Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 12 133420656 133420656 + Silent SNP C C A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr12:133420656C>A c.1836G>T c.(1834-1836)ctG>ctT p.L612L BLCA 12 133428210 133428210 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr12:133428210G>A c.1522C>T c.(1522-1524)Cag>Tag p.Q508* BLCA 12 133428240 133428240 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr12:133428240C>G c.1492G>C c.(1492-1494)Gag>Cag p.E498Q BLCA 12 133428241 133428241 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr12:133428241C>T c.1491G>A c.(1489-1491)gcG>gcA p.A497A BLCA 12 133428265 133428265 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr12:133428265G>C c.1467C>G c.(1465-1467)ttC>ttG p.F489L BLCA 12 133430034 133430034 + Missense_Mutation SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr12:133430034G>A c.1391C>T c.(1390-1392)tCc>tTc p.S464F BLCA 12 133433091 133433091 + Nonsense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr12:133433091C>A c.1228G>T c.(1228-1230)Gag>Tag p.E410* BLCA 12 133433092 133433092 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr12:133433092C>A c.1227G>T c.(1225-1227)ctG>ctT p.L409L BLCA 12 133433181 133433181 + Missense_Mutation SNP C C G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr12:133433181C>G c.1138G>C c.(1138-1140)Gat>Cat p.D380H BLCA 12 133435664 133435664 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr12:133435664C>T c.937G>A c.(937-939)Gac>Aac p.D313N BLCA 12 133438095 133438095 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr12:133438095C>T c.745G>A c.(745-747)Gat>Aat p.D249N BLCA 12 133447326 133447326 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr12:133447326C>T c.387G>A c.(385-387)atG>atA p.M129I BLCA 12 133454175 133454175 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr12:133454175C>T c.199G>A c.(199-201)Gaa>Aaa p.E67K BRCA 12 133438213 133438213 + Silent SNP C C G TCGA-AC-A5EH-01A-11D-A28B-09 TCGA-AC-A5EH-10A-01D-A28E-09 g.chr12:133438213C>G c.627G>C c.(625-627)ggG>ggC p.G209G BRCA 12 133446307 133446307 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr12:133446307C>T c.517G>A c.(517-519)Gag>Aag p.E173K CESC 12 133446252 133446252 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr12:133446252G>A c.572C>T c.(571-573)tCt>tTt p.S191F CESC 12 133454168 133454168 + Nonsense_Mutation SNP G G C TCGA-DG-A2KL-01A-11D-A17W-09 TCGA-DG-A2KL-10A-01D-A17W-09 g.chr12:133454168G>C c.206C>G c.(205-207)tCa>tGa p.S69* CHOL 12 133428224 133428224 + Missense_Mutation SNP G G T TCGA-W5-AA34-01A-11D-A417-09 TCGA-W5-AA34-10A-01D-A41A-09 g.chr12:133428224G>T c.1508C>A c.(1507-1509)cCg>cAg p.P503Q COAD 12 133423629 133423629 + Splice_Site SNP C C A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:133423629C>A c.1771G>T c.(1771-1773)Gat>Tat p.D591Y COAD 12 133423662 133423662 + Missense_Mutation SNP C C T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr12:133423662C>T c.1738G>A c.(1738-1740)Gtg>Atg p.V580M COAD 12 133430078 133430078 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:133430078G>A c.1347C>T c.(1345-1347)ggC>ggT p.G449G COAD 12 133433129 133433129 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:133433129G>T c.1190C>A c.(1189-1191)tCt>tAt p.S397Y COAD 12 133433133 133433133 + Missense_Mutation SNP G G A TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr12:133433133G>A c.1186C>T c.(1186-1188)Cgg>Tgg p.R396W COAD 12 133435802 133435802 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:133435802C>T c.799G>A c.(799-801)Gac>Aac p.D267N COAD 12 133438140 133438140 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:133438140G>A c.700C>T c.(700-702)Ctc>Ttc p.L234F COAD 12 133448924 133448925 + Frame_Shift_Del DEL AA AA - TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr12:133448924_133448925delAA c.289_290delTT c.(289-291)ttafs p.L97fs COAD 12 133448961 133448961 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:133448961T>C c.253A>G c.(253-255)Aac>Gac p.N85D COADREAD 12 133423629 133423629 + Splice_Site SNP C C A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:133423629C>A c.1771G>T c.(1771-1773)Gat>Tat p.D591Y COADREAD 12 133423662 133423662 + Missense_Mutation SNP C C T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr12:133423662C>T c.1738G>A c.(1738-1740)Gtg>Atg p.V580M COADREAD 12 133430078 133430078 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:133430078G>A c.1347C>T c.(1345-1347)ggC>ggT p.G449G COADREAD 12 133433129 133433129 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:133433129G>T c.1190C>A c.(1189-1191)tCt>tAt p.S397Y COADREAD 12 133433133 133433133 + Missense_Mutation SNP G G A TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr12:133433133G>A c.1186C>T c.(1186-1188)Cgg>Tgg p.R396W COADREAD 12 133435802 133435802 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:133435802C>T c.799G>A c.(799-801)Gac>Aac p.D267N COADREAD 12 133438140 133438140 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:133438140G>A c.700C>T c.(700-702)Ctc>Ttc p.L234F COADREAD 12 133448903 133448903 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:133448903T>C c.311A>G c.(310-312)tAc>tGc p.Y104C COADREAD 12 133448924 133448925 + Frame_Shift_Del DEL AA AA - TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr12:133448924_133448925delAA c.289_290delTT c.(289-291)ttafs p.L97fs COADREAD 12 133448961 133448961 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:133448961T>C c.253A>G c.(253-255)Aac>Gac p.N85D ESCA 12 133434058 133434058 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr12:133434058G>T c.1035C>A c.(1033-1035)ccC>ccA p.P345P ESCA 12 133438075 133438075 + Silent SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr12:133438075G>A c.765C>T c.(763-765)ccC>ccT p.P255P HNSC 12 133423707 133423707 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 g.chr12:133423707C>T c.1693G>A c.(1693-1695)Gca>Aca p.A565T HNSC 12 133423717 133423717 + Splice_Site SNP C C A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:133423717C>A c.e15-1 HNSC 12 133433063 133433063 + Nonsense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr12:133433063G>C c.1256C>G c.(1255-1257)tCa>tGa p.S419* HNSC 12 133435715 133435715 + Missense_Mutation SNP C C T TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr12:133435715C>T c.886G>A c.(886-888)Gac>Aac p.D296N HNSC 12 133435802 133435802 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr12:133435802C>G c.799G>C c.(799-801)Gac>Cac p.D267H HNSC 12 133438054 133438054 + Splice_Site SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:133438054T>A c.786A>T c.(784-786)ggA>ggT p.G262G HNSC 12 133448979 133448979 + Splice_Site SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:133448979T>C c.235A>G c.(235-237)Acc>Gcc p.T79A KICH 12 133435693 133435693 + Missense_Mutation SNP G G A TCGA-KM-8443-01A-11D-2310-10 TCGA-KM-8443-10A-01D-2311-10 g.chr12:133435693G>A c.908C>T c.(907-909)aCa>aTa p.T303I KIPAN 12 133428243 133428243 + Missense_Mutation SNP C C G TCGA-UN-AAZ9-01A-11D-A382-10 TCGA-UN-AAZ9-10A-01D-A385-10 g.chr12:133428243C>G c.1489G>C c.(1489-1491)Gcg>Ccg p.A497P KIPAN 12 133435664 133435664 + Missense_Mutation SNP C C T TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr12:133435664C>T c.937G>A c.(937-939)Gac>Aac p.D313N KIPAN 12 133435693 133435693 + Missense_Mutation SNP G G A TCGA-KM-8443-01A-11D-2310-10 TCGA-KM-8443-10A-01D-2311-10 g.chr12:133435693G>A c.908C>T c.(907-909)aCa>aTa p.T303I KIPAN 12 133454165 133454165 + Missense_Mutation SNP C C T TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr12:133454165C>T c.209G>A c.(208-210)gGt>gAt p.G70D KIPAN 12 133454224 133454224 + Missense_Mutation SNP G G C TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr12:133454224G>C c.150C>G c.(148-150)ttC>ttG p.F50L KIRC 12 133435664 133435664 + Missense_Mutation SNP C C T TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr12:133435664C>T c.937G>A c.(937-939)Gac>Aac p.D313N KIRC 12 133454165 133454165 + Missense_Mutation SNP C C T TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr12:133454165C>T c.209G>A c.(208-210)gGt>gAt p.G70D KIRC 12 133454224 133454224 + Missense_Mutation SNP G G C TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr12:133454224G>C c.150C>G c.(148-150)ttC>ttG p.F50L KIRP 12 133428243 133428243 + Missense_Mutation SNP C C G TCGA-UN-AAZ9-01A-11D-A382-10 TCGA-UN-AAZ9-10A-01D-A385-10 g.chr12:133428243C>G c.1489G>C c.(1489-1491)Gcg>Ccg p.A497P LIHC 12 133418144 133418144 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr12:133418144delT c.1991delA c.(1990-1992)aacfs p.N664fs LUAD 12 133420622 133420622 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr12:133420622C>G c.1870G>C c.(1870-1872)Gag>Cag p.E624Q LUAD 12 133428310 133428310 + Silent SNP G G A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr12:133428310G>A c.1422C>T c.(1420-1422)taC>taT p.Y474Y LUAD 12 133433133 133433133 + Missense_Mutation SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chr12:133433133G>A c.1186C>T c.(1186-1188)Cgg>Tgg p.R396W LUAD 12 133433209 133433209 + Missense_Mutation SNP A A T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr12:133433209A>T c.1110T>A c.(1108-1110)agT>agA p.S370R LUAD 12 133438086 133438086 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr12:133438086C>A c.754G>T c.(754-756)Gat>Tat p.D252Y LUAD 12 133447364 133447364 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr12:133447364C>A c.349G>T c.(349-351)Gca>Tca p.A117S LUSC 12 133419614 133419614 + Silent SNP C C T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr12:133419614C>T c.1935G>A c.(1933-1935)gtG>gtA p.V645V LUSC 12 133435727 133435727 + Missense_Mutation SNP C C A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr12:133435727C>A c.874G>T c.(874-876)Gct>Tct p.A292S LUSC 12 133435751 133435751 + Missense_Mutation SNP C C T TCGA-18-4721-01A-01D-1441-08 TCGA-18-4721-11A-01D-1441-08 g.chr12:133435751C>T c.850G>A c.(850-852)Gtc>Atc p.V284I LUSC 12 133435753 133435753 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:133435753G>A c.848C>T c.(847-849)aCc>aTc p.T283I PAAD 12 133428227 133428227 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:133428227T>C c.1505A>G c.(1504-1506)gAc>gGc p.D502G PRAD 12 133428223 133428223 + Silent SNP C C T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 g.chr12:133428223C>T c.1509G>A c.(1507-1509)ccG>ccA p.P503P READ 12 133448903 133448903 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:133448903T>C c.311A>G c.(310-312)tAc>tGc p.Y104C SARC 12 133446393 133446393 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr12:133446393C>T c.431G>A c.(430-432)gGg>gAg p.G144E SKCM 12 133418169 133418169 + Missense_Mutation SNP T T A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr12:133418169T>A c.1966A>T c.(1966-1968)Atc>Ttc p.I656F SKCM 12 133428221 133428221 + Missense_Mutation SNP C C G TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:133428221C>G c.1511G>C c.(1510-1512)cGt>cCt p.R504P SKCM 12 133430057 133430057 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr12:133430057G>A c.1368C>T c.(1366-1368)gcC>gcT p.A456A SKCM 12 133433143 133433143 + Silent SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr12:133433143G>T c.1176C>A c.(1174-1176)ccC>ccA p.P392P SKCM 12 133434019 133434019 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr12:133434019G>A c.1074C>T c.(1072-1074)ctC>ctT p.L358L SKCM 12 133434021 133434021 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:133434021G>A c.1072C>T c.(1072-1074)Ctc>Ttc p.L358F SKCM 12 133434031 133434031 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:133434031G>A c.1062C>T c.(1060-1062)atC>atT p.I354I SKCM 12 133438075 133438075 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr12:133438075G>A c.765C>T c.(763-765)ccC>ccT p.P255P SKCM 12 133438076 133438076 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr12:133438076G>A c.764C>T c.(763-765)cCc>cTc p.P255L SKCM 12 133438100 133438100 + Missense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr12:133438100G>A c.740C>T c.(739-741)cCc>cTc p.P247L SKCM 12 133438112 133438112 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:133438112G>A c.728C>T c.(727-729)tCg>tTg p.S243L SKCM 12 133438182 133438182 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr12:133438182G>A c.658C>T c.(658-660)Ccc>Tcc p.P220S SKCM 12 133448935 133448935 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr12:133448935C>T c.279G>A c.(277-279)caG>caA p.Q93Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 12 133398574 133398574 single base substitution C T downstream_gene_variant BLCA-CN 12 133420655 133420655 single base substitution T G downstream_gene_variant BLCA-CN 12 133420655 133420655 single base substitution T G exon_variant BLCA-CN 12 133420655 133420655 single base substitution T G missense_variant T235P 703A>C BLCA-CN 12 133420655 133420655 single base substitution T G missense_variant T40P 118A>C BLCA-CN 12 133420655 133420655 single base substitution T G missense_variant T521P 1561A>C BLCA-CN 12 133420655 133420655 single base substitution T G missense_variant T572P 1714A>C BLCA-CN 12 133420655 133420655 single base substitution T G missense_variant T601P 1801A>C BLCA-CN 12 133420655 133420655 single base substitution T G missense_variant T612P 1834A>C BLCA-CN 12 133420655 133420655 single base substitution T G missense_variant T613P 1837A>C BLCA-CN 12 133428210 133428210 single base substitution G A downstream_gene_variant BLCA-CN 12 133428210 133428210 single base substitution G A exon_variant BLCA-CN 12 133428210 133428210 single base substitution G A intron_variant BLCA-CN 12 133428210 133428210 single base substitution G A stop_gained Q130* 388C>T BLCA-CN 12 133428210 133428210 single base substitution G A stop_gained Q416* 1246C>T BLCA-CN 12 133428210 133428210 single base substitution G A stop_gained Q467* 1399C>T BLCA-CN 12 133428210 133428210 single base substitution G A stop_gained Q496* 1486C>T BLCA-CN 12 133428210 133428210 single base substitution G A stop_gained Q507* 1519C>T BLCA-CN 12 133428210 133428210 single base substitution G A stop_gained Q508* 1522C>T BLCA-CN 12 133428210 133428210 single base substitution G A upstream_gene_variant BLCA-US 12 133420656 133420656 single base substitution C A downstream_gene_variant BLCA-US 12 133420656 133420656 single base substitution C A exon_variant BLCA-US 12 133420656 133420656 single base substitution C A synonymous_variant L234L 702G>T BLCA-US 12 133420656 133420656 single base substitution C A synonymous_variant L39L 117G>T BLCA-US 12 133420656 133420656 single base substitution C A synonymous_variant L520L 1560G>T BLCA-US 12 133420656 133420656 single base substitution C A synonymous_variant L571L 1713G>T BLCA-US 12 133420656 133420656 single base substitution C A synonymous_variant L600L 1800G>T BLCA-US 12 133420656 133420656 single base substitution C A synonymous_variant L611L 1833G>T BLCA-US 12 133420656 133420656 single base substitution C A synonymous_variant L612L 1836G>T BLCA-US 12 133428210 133428210 single base substitution G A downstream_gene_variant BLCA-US 12 133428210 133428210 single base substitution G A exon_variant BLCA-US 12 133428210 133428210 single base substitution G A intron_variant BLCA-US 12 133428210 133428210 single base substitution G A stop_gained Q130* 388C>T BLCA-US 12 133428210 133428210 single base substitution G A stop_gained Q416* 1246C>T BLCA-US 12 133428210 133428210 single base substitution G A stop_gained Q467* 1399C>T BLCA-US 12 133428210 133428210 single base substitution G A stop_gained Q496* 1486C>T BLCA-US 12 133428210 133428210 single base substitution G A stop_gained Q507* 1519C>T BLCA-US 12 133428210 133428210 single base substitution G A stop_gained Q508* 1522C>T BLCA-US 12 133428210 133428210 single base substitution G A upstream_gene_variant BLCA-US 12 133433181 133433181 single base substitution C G downstream_gene_variant BLCA-US 12 133433181 133433181 single base substitution C G exon_variant BLCA-US 12 133433181 133433181 single base substitution C G missense_variant D288H 862G>C BLCA-US 12 133433181 133433181 single base substitution C G missense_variant D2H 4G>C BLCA-US 12 133433181 133433181 single base substitution C G missense_variant D339H 1015G>C BLCA-US 12 133433181 133433181 single base substitution C G missense_variant D368H 1102G>C BLCA-US 12 133433181 133433181 single base substitution C G missense_variant D380H 1138G>C BLCA-US 12 133433181 133433181 single base substitution C G upstream_gene_variant BOCA-UK 12 133502571 133502571 single base substitution C T intron_variant BRCA-EU 12 133394049 133394049 single base substitution G A downstream_gene_variant BRCA-EU 12 133394601 133394601 single base substitution T A downstream_gene_variant BRCA-EU 12 133396872 133396872 single base substitution C T downstream_gene_variant BRCA-EU 12 133397912 133397912 single base substitution G C downstream_gene_variant BRCA-EU 12 133398225 133398225 single base substitution A G downstream_gene_variant BRCA-EU 12 133398705 133398705 single base substitution C T downstream_gene_variant BRCA-EU 12 133400038 133400038 single base substitution G A intron_variant BRCA-EU 12 133402171 133402171 single base substitution T A intron_variant BRCA-EU 12 133402387 133402387 single base substitution T C intron_variant BRCA-EU 12 133402406 133402406 single base substitution T C intron_variant BRCA-EU 12 133402430 133402430 single base substitution A G intron_variant BRCA-EU 12 133402438 133402438 single base substitution C T intron_variant BRCA-EU 12 133402479 133402479 single base substitution G A intron_variant BRCA-EU 12 133402484 133402484 single base substitution C G intron_variant BRCA-EU 12 133402531 133402531 single base substitution C T intron_variant BRCA-EU 12 133402543 133402543 single base substitution C T intron_variant BRCA-EU 12 133402919 133402919 single base substitution C G intron_variant BRCA-EU 12 133403379 133403379 single base substitution C T intron_variant BRCA-EU 12 133403901 133403901 single base substitution C G intron_variant BRCA-EU 12 133403901 133403901 single base substitution C T intron_variant BRCA-EU 12 133403917 133403917 single base substitution C G intron_variant BRCA-EU 12 133404166 133404166 single base substitution C G intron_variant BRCA-EU 12 133404278 133404278 single base substitution C T intron_variant BRCA-EU 12 133405736 133405745 deletion of <=200bp GGCGTGGCCG - intron_variant BRCA-EU 12 133409048 133409048 single base substitution A G intron_variant BRCA-EU 12 133410397 133410397 single base substitution C G intron_variant BRCA-EU 12 133412438 133412438 single base substitution C T downstream_gene_variant BRCA-EU 12 133412438 133412438 single base substitution C T intron_variant BRCA-EU 12 133412875 133412875 single base substitution C G downstream_gene_variant BRCA-EU 12 133412875 133412875 single base substitution C G intron_variant BRCA-EU 12 133413127 133413127 single base substitution C G downstream_gene_variant BRCA-EU 12 133413127 133413127 single base substitution C G intron_variant BRCA-EU 12 133413568 133413568 single base substitution G A downstream_gene_variant BRCA-EU 12 133413568 133413568 single base substitution G A intron_variant BRCA-EU 12 133414476 133414476 single base substitution C T downstream_gene_variant BRCA-EU 12 133414476 133414476 single base substitution C T intron_variant BRCA-EU 12 133414515 133414539 deletion of <=200bp CCCCTCCGTTCTCATGCTTTCCTTC - downstream_gene_variant BRCA-EU 12 133414515 133414539 deletion of <=200bp CCCCTCCGTTCTCATGCTTTCCTTC - intron_variant BRCA-EU 12 133417584 133417584 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 133417584 133417584 single base substitution A G downstream_gene_variant BRCA-EU 12 133417584 133417584 single base substitution A G exon_variant BRCA-EU 12 133417584 133417584 single base substitution A G intron_variant BRCA-EU 12 133417821 133417821 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 133417821 133417821 single base substitution G T downstream_gene_variant BRCA-EU 12 133417821 133417821 single base substitution G T exon_variant BRCA-EU 12 133417821 133417821 single base substitution G T intron_variant BRCA-EU 12 133418233 133418233 single base substitution C G intron_variant BRCA-EU 12 133418808 133418808 single base substitution C T intron_variant BRCA-EU 12 133418958 133418958 single base substitution C G intron_variant BRCA-EU 12 133419562 133419562 single base substitution C G intron_variant BRCA-EU 12 133420973 133420973 single base substitution C T downstream_gene_variant BRCA-EU 12 133420973 133420973 single base substitution C T intron_variant BRCA-EU 12 133424079 133424079 single base substitution T G downstream_gene_variant BRCA-EU 12 133424079 133424079 single base substitution T G exon_variant BRCA-EU 12 133424079 133424079 single base substitution T G intron_variant BRCA-EU 12 133427427 133427427 single base substitution T C downstream_gene_variant BRCA-EU 12 133427427 133427427 single base substitution T C intron_variant BRCA-EU 12 133427427 133427427 single base substitution T C upstream_gene_variant BRCA-EU 12 133428240 133428240 single base substitution C T downstream_gene_variant BRCA-EU 12 133428240 133428240 single base substitution C T exon_variant BRCA-EU 12 133428240 133428240 single base substitution C T intron_variant BRCA-EU 12 133428240 133428240 single base substitution C T missense_variant E120K 358G>A BRCA-EU 12 133428240 133428240 single base substitution C T missense_variant E406K 1216G>A BRCA-EU 12 133428240 133428240 single base substitution C T missense_variant E457K 1369G>A BRCA-EU 12 133428240 133428240 single base substitution C T missense_variant E486K 1456G>A BRCA-EU 12 133428240 133428240 single base substitution C T missense_variant E497K 1489G>A BRCA-EU 12 133428240 133428240 single base substitution C T missense_variant E498K 1492G>A BRCA-EU 12 133428240 133428240 single base substitution C T upstream_gene_variant BRCA-EU 12 133428662 133428662 single base substitution C T downstream_gene_variant BRCA-EU 12 133428662 133428662 single base substitution C T intron_variant BRCA-EU 12 133428662 133428662 single base substitution C T upstream_gene_variant BRCA-EU 12 133428775 133428775 single base substitution C A downstream_gene_variant BRCA-EU 12 133428775 133428775 single base substitution C A intron_variant BRCA-EU 12 133428775 133428775 single base substitution C A upstream_gene_variant BRCA-EU 12 133429999 133429999 single base substitution G A downstream_gene_variant BRCA-EU 12 133429999 133429999 single base substitution G A intron_variant BRCA-EU 12 133429999 133429999 single base substitution G A upstream_gene_variant BRCA-EU 12 133431124 133431124 single base substitution T A downstream_gene_variant BRCA-EU 12 133431124 133431124 single base substitution T A exon_variant BRCA-EU 12 133431124 133431124 single base substitution T A intron_variant BRCA-EU 12 133431124 133431124 single base substitution T A upstream_gene_variant BRCA-EU 12 133431563 133431563 single base substitution C T downstream_gene_variant BRCA-EU 12 133431563 133431563 single base substitution C T exon_variant BRCA-EU 12 133431563 133431563 single base substitution C T intron_variant BRCA-EU 12 133431563 133431563 single base substitution C T upstream_gene_variant BRCA-EU 12 133433196 133433196 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 133433196 133433196 single base substitution C T downstream_gene_variant BRCA-EU 12 133433196 133433196 single base substitution C T exon_variant BRCA-EU 12 133433196 133433196 single base substitution C T missense_variant D283N 847G>A BRCA-EU 12 133433196 133433196 single base substitution C T missense_variant D334N 1000G>A BRCA-EU 12 133433196 133433196 single base substitution C T missense_variant D363N 1087G>A BRCA-EU 12 133433196 133433196 single base substitution C T missense_variant D375N 1123G>A BRCA-EU 12 133433196 133433196 single base substitution C T upstream_gene_variant BRCA-EU 12 133434999 133434999 single base substitution C G downstream_gene_variant BRCA-EU 12 133434999 133434999 single base substitution C G intron_variant BRCA-EU 12 133434999 133434999 single base substitution C G upstream_gene_variant BRCA-EU 12 133435239 133435239 single base substitution G A downstream_gene_variant BRCA-EU 12 133435239 133435239 single base substitution G A intron_variant BRCA-EU 12 133435239 133435239 single base substitution G A upstream_gene_variant BRCA-EU 12 133435247 133435247 single base substitution G C downstream_gene_variant BRCA-EU 12 133435247 133435247 single base substitution G C intron_variant BRCA-EU 12 133435247 133435247 single base substitution G C upstream_gene_variant BRCA-EU 12 133436449 133436449 single base substitution G A downstream_gene_variant BRCA-EU 12 133436449 133436449 single base substitution G A intron_variant BRCA-EU 12 133436449 133436449 single base substitution G A upstream_gene_variant BRCA-EU 12 133438739 133438739 single base substitution T C intron_variant BRCA-EU 12 133438739 133438739 single base substitution T C upstream_gene_variant BRCA-EU 12 133438761 133438761 single base substitution T C intron_variant BRCA-EU 12 133438761 133438761 single base substitution T C upstream_gene_variant BRCA-EU 12 133440461 133440461 single base substitution C T intron_variant BRCA-EU 12 133440461 133440461 single base substitution C T upstream_gene_variant BRCA-EU 12 133440878 133440878 single base substitution C T intron_variant BRCA-EU 12 133440878 133440878 single base substitution C T upstream_gene_variant BRCA-EU 12 133444036 133444036 single base substitution G T downstream_gene_variant BRCA-EU 12 133444036 133444036 single base substitution G T intron_variant BRCA-EU 12 133444055 133444055 single base substitution C A downstream_gene_variant BRCA-EU 12 133444055 133444055 single base substitution C A intron_variant BRCA-EU 12 133445161 133445161 single base substitution G C downstream_gene_variant BRCA-EU 12 133445161 133445161 single base substitution G C intron_variant BRCA-EU 12 133447598 133447598 single base substitution G A downstream_gene_variant BRCA-EU 12 133447598 133447598 single base substitution G A intron_variant BRCA-EU 12 133449526 133449526 single base substitution G C downstream_gene_variant BRCA-EU 12 133449526 133449526 single base substitution G C intron_variant BRCA-EU 12 133452326 133452326 single base substitution A C downstream_gene_variant BRCA-EU 12 133452326 133452326 single base substitution A C intron_variant BRCA-EU 12 133452446 133452446 single base substitution G A downstream_gene_variant BRCA-EU 12 133452446 133452446 single base substitution G A intron_variant BRCA-EU 12 133453506 133453506 single base substitution G A downstream_gene_variant BRCA-EU 12 133453506 133453506 single base substitution G A intron_variant BRCA-EU 12 133453763 133453763 single base substitution C A downstream_gene_variant BRCA-EU 12 133453763 133453763 single base substitution C A intron_variant BRCA-EU 12 133454392 133454392 single base substitution T G intron_variant BRCA-EU 12 133455131 133455131 insertion of <=200bp - A intron_variant BRCA-EU 12 133455138 133455138 single base substitution C T intron_variant BRCA-EU 12 133456194 133456194 single base substitution C T intron_variant BRCA-EU 12 133456491 133456491 single base substitution C G intron_variant BRCA-EU 12 133457637 133457637 single base substitution C G intron_variant BRCA-EU 12 133459214 133459214 single base substitution C G intron_variant BRCA-EU 12 133460578 133460578 single base substitution C T intron_variant BRCA-EU 12 133460578 133460578 single base substitution C T upstream_gene_variant BRCA-EU 12 133462280 133462280 single base substitution T A intron_variant BRCA-EU 12 133462280 133462280 single base substitution T A upstream_gene_variant BRCA-EU 12 133464357 133464357 single base substitution C A intron_variant BRCA-EU 12 133464357 133464357 single base substitution C A upstream_gene_variant BRCA-EU 12 133465503 133465503 single base substitution A C intron_variant BRCA-EU 12 133465503 133465503 single base substitution A C upstream_gene_variant BRCA-EU 12 133466245 133466245 single base substitution G T intron_variant BRCA-EU 12 133466245 133466245 single base substitution G T upstream_gene_variant BRCA-EU 12 133466360 133466360 single base substitution C A intron_variant BRCA-EU 12 133466360 133466360 single base substitution C A upstream_gene_variant BRCA-EU 12 133466575 133466575 single base substitution G C intron_variant BRCA-EU 12 133466575 133466575 single base substitution G C upstream_gene_variant BRCA-EU 12 133466919 133466919 single base substitution C T intron_variant BRCA-EU 12 133466919 133466919 single base substitution C T upstream_gene_variant BRCA-EU 12 133468970 133468970 single base substitution C G intron_variant BRCA-EU 12 133468970 133468970 single base substitution C G upstream_gene_variant BRCA-EU 12 133469423 133469423 single base substitution T C intron_variant BRCA-EU 12 133470319 133470319 single base substitution G A intron_variant BRCA-EU 12 133471411 133471411 single base substitution G C intron_variant BRCA-EU 12 133471715 133471715 single base substitution C A intron_variant BRCA-EU 12 133471998 133471998 single base substitution A G intron_variant BRCA-EU 12 133472857 133472857 single base substitution C T intron_variant BRCA-EU 12 133473838 133473838 single base substitution A G intron_variant BRCA-EU 12 133473967 133473967 single base substitution C G intron_variant BRCA-EU 12 133474392 133474392 single base substitution C A intron_variant BRCA-EU 12 133474564 133474564 single base substitution A T intron_variant BRCA-EU 12 133474675 133474675 single base substitution G T intron_variant BRCA-EU 12 133475594 133475594 single base substitution A T 5_prime_UTR_variant BRCA-EU 12 133475594 133475594 single base substitution A T intron_variant BRCA-EU 12 133476692 133476692 single base substitution G A intron_variant BRCA-EU 12 133476944 133476944 single base substitution G T intron_variant BRCA-EU 12 133479239 133479239 deletion of <=200bp T - intron_variant BRCA-EU 12 133479831 133479831 single base substitution C G intron_variant BRCA-EU 12 133481489 133481489 insertion of <=200bp - GCGCCACGAGCCACAATCGTAGG intron_variant BRCA-EU 12 133481489 133481489 insertion of <=200bp - GCGCCACGAGCCACAATCGTAGG upstream_gene_variant BRCA-EU 12 133481879 133481879 single base substitution C T intron_variant BRCA-EU 12 133481879 133481879 single base substitution C T upstream_gene_variant BRCA-EU 12 133482127 133482127 single base substitution C G intron_variant BRCA-EU 12 133482127 133482127 single base substitution C G upstream_gene_variant BRCA-EU 12 133482999 133482999 single base substitution C T intron_variant BRCA-EU 12 133482999 133482999 single base substitution C T upstream_gene_variant BRCA-EU 12 133483236 133483236 single base substitution C T intron_variant BRCA-EU 12 133483236 133483236 single base substitution C T upstream_gene_variant BRCA-EU 12 133484578 133484578 single base substitution G A intron_variant BRCA-EU 12 133484578 133484578 single base substitution G A upstream_gene_variant BRCA-EU 12 133485827 133485827 single base substitution G A intron_variant BRCA-EU 12 133485827 133485827 single base substitution G A upstream_gene_variant BRCA-EU 12 133486796 133486796 single base substitution C A intron_variant BRCA-EU 12 133486796 133486796 single base substitution C A upstream_gene_variant BRCA-EU 12 133488055 133488055 deletion of <=200bp T - intron_variant BRCA-EU 12 133488055 133488055 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 133489236 133489236 single base substitution G T intron_variant BRCA-EU 12 133489236 133489236 single base substitution G T upstream_gene_variant BRCA-EU 12 133489512 133489512 deletion of <=200bp A - intron_variant BRCA-EU 12 133489512 133489512 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 133491372 133491372 single base substitution A G intron_variant BRCA-EU 12 133493249 133493249 single base substitution A G intron_variant BRCA-EU 12 133494129 133494129 single base substitution G C intron_variant BRCA-EU 12 133495019 133495019 single base substitution A G intron_variant BRCA-EU 12 133495315 133495315 single base substitution C T intron_variant BRCA-EU 12 133495819 133495822 deletion of <=200bp ATTA - intron_variant BRCA-EU 12 133496092 133496092 single base substitution C T intron_variant BRCA-EU 12 133496210 133496210 single base substitution C T intron_variant BRCA-EU 12 133496270 133496270 single base substitution C T intron_variant BRCA-EU 12 133496436 133496436 deletion of <=200bp G - intron_variant BRCA-EU 12 133496456 133496456 single base substitution C G intron_variant BRCA-EU 12 133496727 133496727 single base substitution G C intron_variant BRCA-EU 12 133497287 133497287 single base substitution C G intron_variant BRCA-EU 12 133497977 133497977 single base substitution T C intron_variant BRCA-EU 12 133503964 133503964 insertion of <=200bp - T intron_variant BRCA-EU 12 133504800 133504800 deletion of <=200bp A - intron_variant BRCA-EU 12 133510493 133510493 single base substitution C G intron_variant BRCA-EU 12 133510949 133510949 single base substitution G A intron_variant BRCA-EU 12 133511682 133511682 deletion of <=200bp G - intron_variant BRCA-EU 12 133512647 133512647 insertion of <=200bp - A intron_variant BRCA-EU 12 133512812 133512812 single base substitution G C intron_variant BRCA-EU 12 133513025 133513025 single base substitution C T intron_variant BRCA-EU 12 133514492 133514495 deletion of <=200bp ATGA - intron_variant BRCA-EU 12 133514782 133514782 single base substitution G A intron_variant BRCA-EU 12 133514860 133514860 single base substitution C T intron_variant BRCA-EU 12 133515864 133515864 single base substitution C T intron_variant BRCA-EU 12 133516859 133516859 single base substitution G A intron_variant BRCA-EU 12 133517946 133517946 single base substitution G T intron_variant BRCA-EU 12 133518784 133518784 single base substitution C T intron_variant BRCA-EU 12 133519458 133519458 single base substitution T C intron_variant BRCA-EU 12 133520892 133520892 deletion of <=200bp A - intron_variant BRCA-EU 12 133522132 133522132 single base substitution G A intron_variant BRCA-EU 12 133522243 133522243 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 133524712 133524712 single base substitution C T intron_variant BRCA-EU 12 133525597 133525597 single base substitution G A intron_variant BRCA-EU 12 133526918 133526918 single base substitution C T intron_variant BRCA-EU 12 133531374 133531374 single base substitution C A intron_variant BRCA-EU 12 133533981 133533981 single base substitution G A upstream_gene_variant BRCA-EU 12 133534671 133534671 single base substitution C G upstream_gene_variant BRCA-EU 12 133536021 133536021 single base substitution T C upstream_gene_variant BRCA-EU 12 133536249 133536249 single base substitution G T upstream_gene_variant BRCA-EU 12 133536319 133536319 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 133537301 133537301 single base substitution A C upstream_gene_variant BRCA-EU 12 133537639 133537639 single base substitution C G upstream_gene_variant BRCA-FR 12 133407321 133407321 single base substitution A G intron_variant BRCA-FR 12 133410397 133410397 single base substitution C G intron_variant BRCA-FR 12 133413568 133413568 single base substitution G A downstream_gene_variant BRCA-FR 12 133413568 133413568 single base substitution G A intron_variant BRCA-FR 12 133419739 133419739 single base substitution G A intron_variant BRCA-FR 12 133420127 133420127 single base substitution C G downstream_gene_variant BRCA-FR 12 133420127 133420127 single base substitution C G intron_variant BRCA-FR 12 133427427 133427427 single base substitution T C downstream_gene_variant BRCA-FR 12 133427427 133427427 single base substitution T C intron_variant BRCA-FR 12 133427427 133427427 single base substitution T C upstream_gene_variant BRCA-FR 12 133436515 133436515 single base substitution C T downstream_gene_variant BRCA-FR 12 133436515 133436515 single base substitution C T intron_variant BRCA-FR 12 133436515 133436515 single base substitution C T upstream_gene_variant BRCA-FR 12 133440461 133440461 single base substitution C T intron_variant BRCA-FR 12 133440461 133440461 single base substitution C T upstream_gene_variant BRCA-FR 12 133444055 133444055 single base substitution C A downstream_gene_variant BRCA-FR 12 133444055 133444055 single base substitution C A intron_variant BRCA-FR 12 133473967 133473967 single base substitution C G intron_variant BRCA-FR 12 133479831 133479831 single base substitution C G intron_variant BRCA-UK 12 133475594 133475594 single base substitution A T 5_prime_UTR_variant BRCA-UK 12 133475594 133475594 single base substitution A T intron_variant BRCA-UK 12 133499914 133499914 single base substitution C A intron_variant BRCA-UK 12 133503521 133503521 single base substitution C G intron_variant BRCA-UK 12 133516859 133516859 single base substitution G A intron_variant BRCA-US 12 133417908 133417908 single base substitution C T 3_prime_UTR_variant BRCA-US 12 133417908 133417908 single base substitution C T downstream_gene_variant BRCA-US 12 133417908 133417908 single base substitution C T exon_variant BRCA-US 12 133417908 133417908 single base substitution C T intron_variant BRCA-US 12 133418072 133418072 single base substitution G A 3_prime_UTR_variant BRCA-US 12 133418072 133418072 single base substitution G A exon_variant BRCA-US 12 133418072 133418072 single base substitution G A intron_variant BRCA-US 12 133418098 133418098 single base substitution C A 3_prime_UTR_variant BRCA-US 12 133418098 133418098 single base substitution C A exon_variant BRCA-US 12 133418098 133418098 single base substitution C A splice_region_variant BRCA-US 12 133446307 133446307 single base substitution C T downstream_gene_variant BRCA-US 12 133446307 133446307 single base substitution C T intron_variant BRCA-US 12 133446307 133446307 single base substitution C T missense_variant E161K 481G>A BRCA-US 12 133446307 133446307 single base substitution C T missense_variant E173K 517G>A BRCA-US 12 133446307 133446307 single base substitution C T missense_variant E33K 97G>A BRCA-US 12 133446307 133446307 single base substitution C T missense_variant E45K 133G>A BRCA-US 12 133448755 133448755 single base substitution T G exon_variant BRCA-US 12 133448755 133448755 single base substitution T G intron_variant BTCA-JP 12 133398506 133398523 deletion of <=200bp TCCTCCCTCAACACCACG - downstream_gene_variant BTCA-JP 12 133418262 133418262 single base substitution A C intron_variant BTCA-JP 12 133454355 133454355 deletion of <=200bp A - intron_variant BTCA-JP 12 133502137 133502137 single base substitution T G intron_variant BTCA-JP 12 133502435 133502435 single base substitution T C intron_variant CESC-US 12 133446252 133446252 single base substitution G A downstream_gene_variant CESC-US 12 133446252 133446252 single base substitution G A intron_variant CESC-US 12 133446252 133446252 single base substitution G A missense_variant S10F 29C>T CESC-US 12 133446252 133446252 single base substitution G A missense_variant S179F 536C>T CESC-US 12 133446252 133446252 single base substitution G A missense_variant S191F 572C>T CESC-US 12 133446252 133446252 single base substitution G A missense_variant S51F 152C>T CESC-US 12 133446252 133446252 single base substitution G A missense_variant S63F 188C>T CESC-US 12 133454168 133454168 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 12 133454168 133454168 single base substitution G C exon_variant CESC-US 12 133454168 133454168 single base substitution G C stop_gained S69* 206C>G CESC-US 12 133485606 133485606 single base substitution C G 5_prime_UTR_variant CESC-US 12 133485606 133485606 single base substitution C G exon_variant CESC-US 12 133485606 133485606 single base substitution C G intron_variant CESC-US 12 133485606 133485606 single base substitution C G upstream_gene_variant CESC-US 12 133502070 133502070 single base substitution C T intron_variant CLLE-ES 12 133393831 133393831 single base substitution C G downstream_gene_variant CLLE-ES 12 133394714 133394714 single base substitution A C downstream_gene_variant CLLE-ES 12 133396949 133396949 single base substitution A G downstream_gene_variant CLLE-ES 12 133396978 133396978 single base substitution A C downstream_gene_variant CLLE-ES 12 133398450 133398450 single base substitution A C downstream_gene_variant CLLE-ES 12 133400001 133400001 single base substitution G A intron_variant CLLE-ES 12 133421372 133421372 single base substitution G A downstream_gene_variant CLLE-ES 12 133421372 133421372 single base substitution G A intron_variant CLLE-ES 12 133435345 133435345 single base substitution T A downstream_gene_variant CLLE-ES 12 133435345 133435345 single base substitution T A intron_variant CLLE-ES 12 133435345 133435345 single base substitution T A upstream_gene_variant CLLE-ES 12 133442289 133442289 single base substitution A G downstream_gene_variant CLLE-ES 12 133442289 133442289 single base substitution A G intron_variant CLLE-ES 12 133442289 133442289 single base substitution A G upstream_gene_variant CLLE-ES 12 133447677 133447677 single base substitution T G downstream_gene_variant CLLE-ES 12 133447677 133447677 single base substitution T G intron_variant CLLE-ES 12 133466636 133466636 single base substitution T A intron_variant CLLE-ES 12 133466636 133466636 single base substitution T A upstream_gene_variant CLLE-ES 12 133471422 133471422 single base substitution T A intron_variant CLLE-ES 12 133493644 133493644 single base substitution G A intron_variant CLLE-ES 12 133498343 133498343 single base substitution C T intron_variant CLLE-ES 12 133528465 133528466 deletion of <=200bp AT - intron_variant COAD-US 12 133398704 133398704 single base substitution G A downstream_gene_variant COAD-US 12 133419635 133419635 single base substitution G A exon_variant COAD-US 12 133419635 133419635 single base substitution G A synonymous_variant G260G 780C>T COAD-US 12 133419635 133419635 single base substitution G A synonymous_variant G546G 1638C>T COAD-US 12 133419635 133419635 single base substitution G A synonymous_variant G597G 1791C>T COAD-US 12 133419635 133419635 single base substitution G A synonymous_variant G626G 1878C>T COAD-US 12 133419635 133419635 single base substitution G A synonymous_variant G637G 1911C>T COAD-US 12 133419635 133419635 single base substitution G A synonymous_variant G638G 1914C>T COAD-US 12 133419635 133419635 single base substitution G A synonymous_variant G65G 195C>T COAD-US 12 133430036 133430036 single base substitution C A downstream_gene_variant COAD-US 12 133430036 133430036 single base substitution C A exon_variant COAD-US 12 133430036 133430036 single base substitution C A intron_variant COAD-US 12 133430036 133430036 single base substitution C A synonymous_variant T371T 1113G>T COAD-US 12 133430036 133430036 single base substitution C A synonymous_variant T422T 1266G>T COAD-US 12 133430036 133430036 single base substitution C A synonymous_variant T451T 1353G>T COAD-US 12 133430036 133430036 single base substitution C A synonymous_variant T463T 1389G>T COAD-US 12 133430036 133430036 single base substitution C A synonymous_variant T85T 255G>T COAD-US 12 133430036 133430036 single base substitution C A upstream_gene_variant COAD-US 12 133430078 133430078 single base substitution G A downstream_gene_variant COAD-US 12 133430078 133430078 single base substitution G A exon_variant COAD-US 12 133430078 133430078 single base substitution G A intron_variant COAD-US 12 133430078 133430078 single base substitution G A synonymous_variant G357G 1071C>T COAD-US 12 133430078 133430078 single base substitution G A synonymous_variant G408G 1224C>T COAD-US 12 133430078 133430078 single base substitution G A synonymous_variant G437G 1311C>T COAD-US 12 133430078 133430078 single base substitution G A synonymous_variant G449G 1347C>T COAD-US 12 133430078 133430078 single base substitution G A synonymous_variant G71G 213C>T COAD-US 12 133430078 133430078 single base substitution G A upstream_gene_variant COAD-US 12 133433129 133433129 single base substitution G T downstream_gene_variant COAD-US 12 133433129 133433129 single base substitution G T exon_variant COAD-US 12 133433129 133433129 single base substitution G T missense_variant S19Y 56C>A COAD-US 12 133433129 133433129 single base substitution G T missense_variant S305Y 914C>A COAD-US 12 133433129 133433129 single base substitution G T missense_variant S356Y 1067C>A COAD-US 12 133433129 133433129 single base substitution G T missense_variant S385Y 1154C>A COAD-US 12 133433129 133433129 single base substitution G T missense_variant S397Y 1190C>A COAD-US 12 133433129 133433129 single base substitution G T upstream_gene_variant COAD-US 12 133433133 133433133 single base substitution G A downstream_gene_variant COAD-US 12 133433133 133433133 single base substitution G A exon_variant COAD-US 12 133433133 133433133 single base substitution G A missense_variant R18W 52C>T COAD-US 12 133433133 133433133 single base substitution G A missense_variant R304W 910C>T COAD-US 12 133433133 133433133 single base substitution G A missense_variant R355W 1063C>T COAD-US 12 133433133 133433133 single base substitution G A missense_variant R384W 1150C>T COAD-US 12 133433133 133433133 single base substitution G A missense_variant R396W 1186C>T COAD-US 12 133433133 133433133 single base substitution G A upstream_gene_variant COAD-US 12 133439002 133439002 single base substitution G A intron_variant COAD-US 12 133439002 133439002 single base substitution G A missense_variant P138L 413C>T COAD-US 12 133439002 133439002 single base substitution G A upstream_gene_variant COAD-US 12 133448924 133448925 deletion of <=200bp AA - 5_prime_UTR_variant COAD-US 12 133448924 133448925 deletion of <=200bp AA - exon_variant COAD-US 12 133448924 133448925 deletion of <=200bp AA - frameshift_variant L97 COAD-US 12 133502193 133502193 single base substitution G A intron_variant COCA-CN 12 133393858 133393858 single base substitution C G downstream_gene_variant COCA-CN 12 133398452 133398452 single base substitution A C downstream_gene_variant COCA-CN 12 133398461 133398461 single base substitution C A downstream_gene_variant COCA-CN 12 133398522 133398522 single base substitution C G downstream_gene_variant COCA-CN 12 133412428 133412428 single base substitution A G downstream_gene_variant COCA-CN 12 133412428 133412428 single base substitution A G intron_variant COCA-CN 12 133413131 133413131 single base substitution G A downstream_gene_variant COCA-CN 12 133413131 133413131 single base substitution G A intron_variant COCA-CN 12 133416557 133416557 single base substitution C T downstream_gene_variant COCA-CN 12 133416557 133416557 single base substitution C T intron_variant COCA-CN 12 133418233 133418233 single base substitution C A intron_variant COCA-CN 12 133419542 133419542 single base substitution C T intron_variant COCA-CN 12 133419572 133419572 single base substitution C T intron_variant COCA-CN 12 133419625 133419625 single base substitution G A exon_variant COCA-CN 12 133419625 133419625 single base substitution G A missense_variant R264C 790C>T COCA-CN 12 133419625 133419625 single base substitution G A missense_variant R550C 1648C>T COCA-CN 12 133419625 133419625 single base substitution G A missense_variant R601C 1801C>T COCA-CN 12 133419625 133419625 single base substitution G A missense_variant R630C 1888C>T COCA-CN 12 133419625 133419625 single base substitution G A missense_variant R641C 1921C>T COCA-CN 12 133419625 133419625 single base substitution G A missense_variant R642C 1924C>T COCA-CN 12 133419625 133419625 single base substitution G A missense_variant R69C 205C>T COCA-CN 12 133419772 133419772 single base substitution C T downstream_gene_variant COCA-CN 12 133419772 133419772 single base substitution C T intron_variant COCA-CN 12 133424584 133424584 single base substitution T C downstream_gene_variant COCA-CN 12 133424584 133424584 single base substitution T C intron_variant COCA-CN 12 133424584 133424584 single base substitution T C upstream_gene_variant COCA-CN 12 133424713 133424713 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 12 133424713 133424713 single base substitution G A downstream_gene_variant COCA-CN 12 133424713 133424713 single base substitution G A exon_variant COCA-CN 12 133424713 133424713 single base substitution G A intron_variant COCA-CN 12 133424713 133424713 single base substitution G A synonymous_variant D169D 507C>T COCA-CN 12 133424713 133424713 single base substitution G A synonymous_variant D455D 1365C>T COCA-CN 12 133424713 133424713 single base substitution G A synonymous_variant D506D 1518C>T COCA-CN 12 133424713 133424713 single base substitution G A synonymous_variant D535D 1605C>T COCA-CN 12 133424713 133424713 single base substitution G A synonymous_variant D546D 1638C>T COCA-CN 12 133424713 133424713 single base substitution G A synonymous_variant D547D 1641C>T COCA-CN 12 133424713 133424713 single base substitution G A upstream_gene_variant COCA-CN 12 133425249 133425249 single base substitution G A downstream_gene_variant COCA-CN 12 133425249 133425249 single base substitution G A exon_variant COCA-CN 12 133425249 133425249 single base substitution G A synonymous_variant Y152Y 456C>T COCA-CN 12 133425249 133425249 single base substitution G A synonymous_variant Y438Y 1314C>T COCA-CN 12 133425249 133425249 single base substitution G A synonymous_variant Y489Y 1467C>T COCA-CN 12 133425249 133425249 single base substitution G A synonymous_variant Y518Y 1554C>T COCA-CN 12 133425249 133425249 single base substitution G A synonymous_variant Y529Y 1587C>T COCA-CN 12 133425249 133425249 single base substitution G A synonymous_variant Y530Y 1590C>T COCA-CN 12 133425249 133425249 single base substitution G A upstream_gene_variant COCA-CN 12 133425345 133425345 single base substitution C T downstream_gene_variant COCA-CN 12 133425345 133425345 single base substitution C T exon_variant COCA-CN 12 133425345 133425345 single base substitution C T intron_variant COCA-CN 12 133425345 133425345 single base substitution C T upstream_gene_variant COCA-CN 12 133428088 133428088 single base substitution A G downstream_gene_variant COCA-CN 12 133428088 133428088 single base substitution A G intron_variant COCA-CN 12 133428088 133428088 single base substitution A G upstream_gene_variant COCA-CN 12 133429998 133429998 single base substitution T G downstream_gene_variant COCA-CN 12 133429998 133429998 single base substitution T G intron_variant COCA-CN 12 133429998 133429998 single base substitution T G upstream_gene_variant COCA-CN 12 133435345 133435345 single base substitution T A downstream_gene_variant COCA-CN 12 133435345 133435345 single base substitution T A intron_variant COCA-CN 12 133435345 133435345 single base substitution T A upstream_gene_variant COCA-CN 12 133435534 133435534 single base substitution C T downstream_gene_variant COCA-CN 12 133435534 133435534 single base substitution C T intron_variant COCA-CN 12 133435534 133435534 single base substitution C T upstream_gene_variant COCA-CN 12 133438277 133438277 single base substitution T C exon_variant COCA-CN 12 133438277 133438277 single base substitution T C intron_variant COCA-CN 12 133438277 133438277 single base substitution T C upstream_gene_variant COCA-CN 12 133445066 133445066 single base substitution T C downstream_gene_variant COCA-CN 12 133445066 133445066 single base substitution T C intron_variant COCA-CN 12 133446346 133446346 single base substitution G A downstream_gene_variant COCA-CN 12 133446346 133446346 single base substitution G A intron_variant COCA-CN 12 133446346 133446346 single base substitution G A missense_variant R148W 442C>T COCA-CN 12 133446346 133446346 single base substitution G A missense_variant R160W 478C>T COCA-CN 12 133446346 133446346 single base substitution G A missense_variant R20W 58C>T COCA-CN 12 133446346 133446346 single base substitution G A missense_variant R32W 94C>T COCA-CN 12 133448814 133448814 single base substitution C T exon_variant COCA-CN 12 133448814 133448814 single base substitution C T intron_variant COCA-CN 12 133454387 133454387 single base substitution G T intron_variant COCA-CN 12 133462508 133462508 single base substitution T G intron_variant COCA-CN 12 133462508 133462508 single base substitution T G upstream_gene_variant COCA-CN 12 133463879 133463879 single base substitution C T exon_variant COCA-CN 12 133463879 133463879 single base substitution C T intron_variant COCA-CN 12 133463879 133463879 single base substitution C T synonymous_variant P12P 36G>A COCA-CN 12 133463879 133463879 single base substitution C T upstream_gene_variant COCA-CN 12 133469453 133469453 single base substitution A T intron_variant COCA-CN 12 133472286 133472286 single base substitution T C intron_variant COCA-CN 12 133472932 133472932 single base substitution T C intron_variant COCA-CN 12 133502710 133502710 single base substitution T G intron_variant COCA-CN 12 133503111 133503111 single base substitution A G intron_variant COCA-CN 12 133522483 133522483 single base substitution G A intron_variant EOPC-DE 12 133398764 133398764 single base substitution T C downstream_gene_variant EOPC-DE 12 133412393 133412393 single base substitution A G downstream_gene_variant EOPC-DE 12 133412393 133412393 single base substitution A G intron_variant EOPC-DE 12 133412413 133412413 single base substitution C A downstream_gene_variant EOPC-DE 12 133412413 133412413 single base substitution C A intron_variant EOPC-DE 12 133412428 133412428 single base substitution A G downstream_gene_variant EOPC-DE 12 133412428 133412428 single base substitution A G intron_variant EOPC-DE 12 133445083 133445083 single base substitution A G downstream_gene_variant EOPC-DE 12 133445083 133445083 single base substitution A G intron_variant EOPC-DE 12 133469538 133469538 single base substitution T C intron_variant ESAD-UK 12 133395329 133395329 single base substitution C G downstream_gene_variant ESAD-UK 12 133396557 133396557 single base substitution G T downstream_gene_variant ESAD-UK 12 133397283 133397283 single base substitution C T downstream_gene_variant ESAD-UK 12 133398311 133398311 single base substitution G A downstream_gene_variant ESAD-UK 12 133399099 133399099 single base substitution G A intron_variant ESAD-UK 12 133400610 133400610 single base substitution G A intron_variant ESAD-UK 12 133402013 133402013 single base substitution T C intron_variant ESAD-UK 12 133402237 133402237 single base substitution G C intron_variant ESAD-UK 12 133404948 133404948 single base substitution C A intron_variant ESAD-UK 12 133405998 133405998 single base substitution T C intron_variant ESAD-UK 12 133407296 133407296 single base substitution C T intron_variant ESAD-UK 12 133408509 133408509 single base substitution G A intron_variant ESAD-UK 12 133408640 133408640 single base substitution A C intron_variant ESAD-UK 12 133410773 133410773 single base substitution T A intron_variant ESAD-UK 12 133413057 133413057 single base substitution G C downstream_gene_variant ESAD-UK 12 133413057 133413057 single base substitution G C intron_variant ESAD-UK 12 133416736 133416736 single base substitution C T downstream_gene_variant ESAD-UK 12 133416736 133416736 single base substitution C T intron_variant ESAD-UK 12 133419431 133419431 single base substitution C T intron_variant ESAD-UK 12 133425004 133425004 single base substitution T C exon_variant ESAD-UK 12 133425004 133425004 single base substitution T C intron_variant ESAD-UK 12 133425004 133425004 single base substitution T C upstream_gene_variant ESAD-UK 12 133425873 133425873 single base substitution C T downstream_gene_variant ESAD-UK 12 133425873 133425873 single base substitution C T exon_variant ESAD-UK 12 133425873 133425873 single base substitution C T intron_variant ESAD-UK 12 133425873 133425873 single base substitution C T upstream_gene_variant ESAD-UK 12 133426045 133426045 single base substitution C T downstream_gene_variant ESAD-UK 12 133426045 133426045 single base substitution C T exon_variant ESAD-UK 12 133426045 133426045 single base substitution C T intron_variant ESAD-UK 12 133426045 133426045 single base substitution C T upstream_gene_variant ESAD-UK 12 133427688 133427688 single base substitution G C downstream_gene_variant ESAD-UK 12 133427688 133427688 single base substitution G C intron_variant ESAD-UK 12 133427688 133427688 single base substitution G C upstream_gene_variant ESAD-UK 12 133429513 133429513 single base substitution G T downstream_gene_variant ESAD-UK 12 133429513 133429513 single base substitution G T intron_variant ESAD-UK 12 133429513 133429513 single base substitution G T upstream_gene_variant ESAD-UK 12 133429526 133429526 single base substitution C A downstream_gene_variant ESAD-UK 12 133429526 133429526 single base substitution C A intron_variant ESAD-UK 12 133429526 133429526 single base substitution C A upstream_gene_variant ESAD-UK 12 133432032 133432032 single base substitution C T downstream_gene_variant ESAD-UK 12 133432032 133432032 single base substitution C T intron_variant ESAD-UK 12 133432032 133432032 single base substitution C T upstream_gene_variant ESAD-UK 12 133432097 133432097 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 133432097 133432097 insertion of <=200bp - A intron_variant ESAD-UK 12 133432097 133432097 insertion of <=200bp - A upstream_gene_variant ESAD-UK 12 133432276 133432276 single base substitution G T downstream_gene_variant ESAD-UK 12 133432276 133432276 single base substitution G T intron_variant ESAD-UK 12 133432276 133432276 single base substitution G T upstream_gene_variant ESAD-UK 12 133432774 133432774 single base substitution G A downstream_gene_variant ESAD-UK 12 133432774 133432774 single base substitution G A intron_variant ESAD-UK 12 133432774 133432774 single base substitution G A upstream_gene_variant ESAD-UK 12 133433801 133433801 single base substitution T C downstream_gene_variant ESAD-UK 12 133433801 133433801 single base substitution T C intron_variant ESAD-UK 12 133433801 133433801 single base substitution T C upstream_gene_variant ESAD-UK 12 133435177 133435177 single base substitution G C downstream_gene_variant ESAD-UK 12 133435177 133435177 single base substitution G C intron_variant ESAD-UK 12 133435177 133435177 single base substitution G C upstream_gene_variant ESAD-UK 12 133435814 133435814 single base substitution C G downstream_gene_variant ESAD-UK 12 133435814 133435814 single base substitution C G splice_acceptor_variant ESAD-UK 12 133435814 133435814 single base substitution C G upstream_gene_variant ESAD-UK 12 133436225 133436225 single base substitution C T downstream_gene_variant ESAD-UK 12 133436225 133436225 single base substitution C T intron_variant ESAD-UK 12 133436225 133436225 single base substitution C T upstream_gene_variant ESAD-UK 12 133438430 133438430 single base substitution G T exon_variant ESAD-UK 12 133438430 133438430 single base substitution G T intron_variant ESAD-UK 12 133438430 133438430 single base substitution G T upstream_gene_variant ESAD-UK 12 133438586 133438586 single base substitution C T intron_variant ESAD-UK 12 133438586 133438586 single base substitution C T upstream_gene_variant ESAD-UK 12 133440087 133440087 single base substitution G A intron_variant ESAD-UK 12 133440087 133440087 single base substitution G A upstream_gene_variant ESAD-UK 12 133440203 133440203 single base substitution C A intron_variant ESAD-UK 12 133440203 133440203 single base substitution C A upstream_gene_variant ESAD-UK 12 133440303 133440303 single base substitution C T intron_variant ESAD-UK 12 133440303 133440303 single base substitution C T upstream_gene_variant ESAD-UK 12 133441040 133441040 single base substitution T G intron_variant ESAD-UK 12 133441040 133441040 single base substitution T G upstream_gene_variant ESAD-UK 12 133443040 133443040 single base substitution C A downstream_gene_variant ESAD-UK 12 133443040 133443040 single base substitution C A intron_variant ESAD-UK 12 133443040 133443040 single base substitution C A upstream_gene_variant ESAD-UK 12 133443793 133443793 single base substitution T C downstream_gene_variant ESAD-UK 12 133443793 133443793 single base substitution T C intron_variant ESAD-UK 12 133443885 133443885 single base substitution C T downstream_gene_variant ESAD-UK 12 133443885 133443885 single base substitution C T intron_variant ESAD-UK 12 133446284 133446284 single base substitution C T downstream_gene_variant ESAD-UK 12 133446284 133446284 single base substitution C T intron_variant ESAD-UK 12 133446284 133446284 single base substitution C T synonymous_variant S168S 504G>A ESAD-UK 12 133446284 133446284 single base substitution C T synonymous_variant S180S 540G>A ESAD-UK 12 133446284 133446284 single base substitution C T synonymous_variant S40S 120G>A ESAD-UK 12 133446284 133446284 single base substitution C T synonymous_variant S52S 156G>A ESAD-UK 12 133449040 133449040 single base substitution T A intron_variant ESAD-UK 12 133449474 133449474 single base substitution C G downstream_gene_variant ESAD-UK 12 133449474 133449474 single base substitution C G intron_variant ESAD-UK 12 133449574 133449574 single base substitution A C downstream_gene_variant ESAD-UK 12 133449574 133449574 single base substitution A C intron_variant ESAD-UK 12 133451792 133451792 single base substitution A G downstream_gene_variant ESAD-UK 12 133451792 133451792 single base substitution A G intron_variant ESAD-UK 12 133452646 133452646 single base substitution C T downstream_gene_variant ESAD-UK 12 133452646 133452646 single base substitution C T intron_variant ESAD-UK 12 133454267 133454267 single base substitution G A intron_variant ESAD-UK 12 133454428 133454428 single base substitution G T intron_variant ESAD-UK 12 133454574 133454574 single base substitution G C intron_variant ESAD-UK 12 133454713 133454713 single base substitution C T intron_variant ESAD-UK 12 133455354 133455354 single base substitution C T intron_variant ESAD-UK 12 133456849 133456849 single base substitution C A intron_variant ESAD-UK 12 133460875 133460875 single base substitution C T intron_variant ESAD-UK 12 133460875 133460875 single base substitution C T upstream_gene_variant ESAD-UK 12 133462971 133462971 single base substitution A C intron_variant ESAD-UK 12 133462971 133462971 single base substitution A C upstream_gene_variant ESAD-UK 12 133464496 133464496 single base substitution C T intron_variant ESAD-UK 12 133464496 133464496 single base substitution C T upstream_gene_variant ESAD-UK 12 133465299 133465299 single base substitution C T intron_variant ESAD-UK 12 133465299 133465299 single base substitution C T upstream_gene_variant ESAD-UK 12 133465753 133465753 single base substitution A G intron_variant ESAD-UK 12 133465753 133465753 single base substitution A G upstream_gene_variant ESAD-UK 12 133465845 133465845 single base substitution C A intron_variant ESAD-UK 12 133465845 133465845 single base substitution C A upstream_gene_variant ESAD-UK 12 133467256 133467256 single base substitution G A intron_variant ESAD-UK 12 133467256 133467256 single base substitution G A upstream_gene_variant ESAD-UK 12 133468386 133468386 single base substitution A T intron_variant ESAD-UK 12 133468386 133468386 single base substitution A T upstream_gene_variant ESAD-UK 12 133470506 133470506 single base substitution C T intron_variant ESAD-UK 12 133471061 133471061 single base substitution C G intron_variant ESAD-UK 12 133472292 133472292 single base substitution C T intron_variant ESAD-UK 12 133472576 133472576 single base substitution G A intron_variant ESAD-UK 12 133472899 133472899 single base substitution G A intron_variant ESAD-UK 12 133473324 133473324 single base substitution G A intron_variant ESAD-UK 12 133474230 133474230 single base substitution A T intron_variant ESAD-UK 12 133474390 133474390 single base substitution A G intron_variant ESAD-UK 12 133474592 133474592 single base substitution A G intron_variant ESAD-UK 12 133475540 133475540 single base substitution T G intron_variant ESAD-UK 12 133475640 133475640 single base substitution G T 5_prime_UTR_variant ESAD-UK 12 133475640 133475640 single base substitution G T intron_variant ESAD-UK 12 133476528 133476528 single base substitution C T intron_variant ESAD-UK 12 133476991 133476991 single base substitution T C intron_variant ESAD-UK 12 133477636 133477636 single base substitution C A intron_variant ESAD-UK 12 133479219 133479219 single base substitution G T intron_variant ESAD-UK 12 133479239 133479239 insertion of <=200bp - T intron_variant ESAD-UK 12 133479477 133479477 single base substitution C T intron_variant ESAD-UK 12 133480392 133480392 single base substitution G A intron_variant ESAD-UK 12 133480755 133480755 single base substitution C T intron_variant ESAD-UK 12 133481897 133481897 single base substitution C T intron_variant ESAD-UK 12 133481897 133481897 single base substitution C T upstream_gene_variant ESAD-UK 12 133482224 133482224 deletion of <=200bp A - intron_variant ESAD-UK 12 133482224 133482224 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 133483390 133483390 single base substitution C T intron_variant ESAD-UK 12 133483390 133483390 single base substitution C T upstream_gene_variant ESAD-UK 12 133485794 133485794 single base substitution G A intron_variant ESAD-UK 12 133485794 133485794 single base substitution G A upstream_gene_variant ESAD-UK 12 133486324 133486324 single base substitution T A intron_variant ESAD-UK 12 133486324 133486324 single base substitution T A upstream_gene_variant ESAD-UK 12 133487074 133487074 single base substitution T G intron_variant ESAD-UK 12 133487074 133487074 single base substitution T G upstream_gene_variant ESAD-UK 12 133487778 133487778 single base substitution T A intron_variant ESAD-UK 12 133487778 133487778 single base substitution T A upstream_gene_variant ESAD-UK 12 133489214 133489214 single base substitution G A intron_variant ESAD-UK 12 133489214 133489214 single base substitution G A upstream_gene_variant ESAD-UK 12 133490663 133490663 single base substitution C G intron_variant ESAD-UK 12 133490663 133490663 single base substitution C G upstream_gene_variant ESAD-UK 12 133491153 133491153 single base substitution T G intron_variant ESAD-UK 12 133492144 133492144 single base substitution T G intron_variant ESAD-UK 12 133493387 133493387 single base substitution C T intron_variant ESAD-UK 12 133493811 133493811 single base substitution T C intron_variant ESAD-UK 12 133493933 133493933 single base substitution G A intron_variant ESAD-UK 12 133494325 133494325 single base substitution C G intron_variant ESAD-UK 12 133494631 133494631 single base substitution C T intron_variant ESAD-UK 12 133496225 133496225 single base substitution T G intron_variant ESAD-UK 12 133496723 133496723 single base substitution G A intron_variant ESAD-UK 12 133496737 133496737 deletion of <=200bp T - intron_variant ESAD-UK 12 133498513 133498513 single base substitution G A intron_variant ESAD-UK 12 133499877 133499877 single base substitution C A intron_variant ESAD-UK 12 133500450 133500450 single base substitution T G intron_variant ESCA-CN 12 133433085 133433085 single base substitution A G downstream_gene_variant ESCA-CN 12 133433085 133433085 single base substitution A G exon_variant ESCA-CN 12 133433085 133433085 single base substitution A G missense_variant S320P 958T>C ESCA-CN 12 133433085 133433085 single base substitution A G missense_variant S34P 100T>C ESCA-CN 12 133433085 133433085 single base substitution A G missense_variant S371P 1111T>C ESCA-CN 12 133433085 133433085 single base substitution A G missense_variant S400P 1198T>C ESCA-CN 12 133433085 133433085 single base substitution A G missense_variant S412P 1234T>C ESCA-CN 12 133433085 133433085 single base substitution A G upstream_gene_variant ESCA-CN 12 133433801 133433801 single base substitution T C downstream_gene_variant ESCA-CN 12 133433801 133433801 single base substitution T C intron_variant ESCA-CN 12 133433801 133433801 single base substitution T C upstream_gene_variant ESCA-CN 12 133435841 133435841 single base substitution G A downstream_gene_variant ESCA-CN 12 133435841 133435841 single base substitution G A intron_variant ESCA-CN 12 133435841 133435841 single base substitution G A upstream_gene_variant ESCA-CN 12 133438120 133438120 single base substitution C T downstream_gene_variant ESCA-CN 12 133438120 133438120 single base substitution C T exon_variant ESCA-CN 12 133438120 133438120 single base substitution C T synonymous_variant A100A 300G>A ESCA-CN 12 133438120 133438120 single base substitution C T synonymous_variant A148A 444G>A ESCA-CN 12 133438120 133438120 single base substitution C T synonymous_variant A199A 597G>A ESCA-CN 12 133438120 133438120 single base substitution C T synonymous_variant A228A 684G>A ESCA-CN 12 133438120 133438120 single base substitution C T synonymous_variant A240A 720G>A ESCA-CN 12 133438120 133438120 single base substitution C T upstream_gene_variant KIRC-US 12 133435664 133435664 single base substitution C T downstream_gene_variant KIRC-US 12 133435664 133435664 single base substitution C T exon_variant KIRC-US 12 133435664 133435664 single base substitution C T missense_variant D221N 661G>A KIRC-US 12 133435664 133435664 single base substitution C T missense_variant D272N 814G>A KIRC-US 12 133435664 133435664 single base substitution C T missense_variant D301N 901G>A KIRC-US 12 133435664 133435664 single base substitution C T missense_variant D313N 937G>A KIRC-US 12 133435664 133435664 single base substitution C T upstream_gene_variant KIRC-US 12 133454165 133454165 single base substitution C T 5_prime_UTR_variant KIRC-US 12 133454165 133454165 single base substitution C T exon_variant KIRC-US 12 133454165 133454165 single base substitution C T missense_variant G70D 209G>A KIRC-US 12 133454224 133454224 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 12 133454224 133454224 single base substitution G C exon_variant KIRC-US 12 133454224 133454224 single base substitution G C missense_variant F50L 150C>G KIRP-US 12 133430112 133430112 single base substitution G T downstream_gene_variant KIRP-US 12 133430112 133430112 single base substitution G T exon_variant KIRP-US 12 133430112 133430112 single base substitution G T intron_variant KIRP-US 12 133430112 133430112 single base substitution G T missense_variant A346E 1037C>A KIRP-US 12 133430112 133430112 single base substitution G T missense_variant A397E 1190C>A KIRP-US 12 133430112 133430112 single base substitution G T missense_variant A426E 1277C>A KIRP-US 12 133430112 133430112 single base substitution G T missense_variant A438E 1313C>A KIRP-US 12 133430112 133430112 single base substitution G T missense_variant A60E 179C>A KIRP-US 12 133430112 133430112 single base substitution G T upstream_gene_variant LAML-CN 12 133434026 133434026 single base substitution T C downstream_gene_variant LAML-CN 12 133434026 133434026 single base substitution T C exon_variant LAML-CN 12 133434026 133434026 single base substitution T C missense_variant N264S 791A>G LAML-CN 12 133434026 133434026 single base substitution T C missense_variant N315S 944A>G LAML-CN 12 133434026 133434026 single base substitution T C missense_variant N344S 1031A>G LAML-CN 12 133434026 133434026 single base substitution T C missense_variant N356S 1067A>G LAML-CN 12 133434026 133434026 single base substitution T C upstream_gene_variant LAML-KR 12 133393777 133393777 single base substitution A T downstream_gene_variant LAML-KR 12 133394707 133394707 single base substitution T C downstream_gene_variant LAML-KR 12 133400199 133400199 single base substitution C T intron_variant LAML-KR 12 133412449 133412449 single base substitution T C downstream_gene_variant LAML-KR 12 133412449 133412449 single base substitution T C intron_variant LAML-KR 12 133412828 133412828 single base substitution C G downstream_gene_variant LAML-KR 12 133412828 133412828 single base substitution C G intron_variant LAML-KR 12 133413063 133413063 single base substitution A T downstream_gene_variant LAML-KR 12 133413063 133413063 single base substitution A T intron_variant LAML-KR 12 133413103 133413103 single base substitution A C downstream_gene_variant LAML-KR 12 133413103 133413103 single base substitution A C intron_variant LAML-KR 12 133413148 133413148 single base substitution A C downstream_gene_variant LAML-KR 12 133413148 133413148 single base substitution A C intron_variant LAML-KR 12 133416103 133416103 single base substitution C A downstream_gene_variant LAML-KR 12 133416103 133416103 single base substitution C A intron_variant LAML-KR 12 133425903 133425903 single base substitution T C downstream_gene_variant LAML-KR 12 133425903 133425903 single base substitution T C exon_variant LAML-KR 12 133425903 133425903 single base substitution T C intron_variant LAML-KR 12 133425903 133425903 single base substitution T C upstream_gene_variant LAML-KR 12 133428242 133428242 single base substitution G A downstream_gene_variant LAML-KR 12 133428242 133428242 single base substitution G A exon_variant LAML-KR 12 133428242 133428242 single base substitution G A intron_variant LAML-KR 12 133428242 133428242 single base substitution G A missense_variant A119V 356C>T LAML-KR 12 133428242 133428242 single base substitution G A missense_variant A405V 1214C>T LAML-KR 12 133428242 133428242 single base substitution G A missense_variant A456V 1367C>T LAML-KR 12 133428242 133428242 single base substitution G A missense_variant A485V 1454C>T LAML-KR 12 133428242 133428242 single base substitution G A missense_variant A496V 1487C>T LAML-KR 12 133428242 133428242 single base substitution G A missense_variant A497V 1490C>T LAML-KR 12 133428242 133428242 single base substitution G A upstream_gene_variant LAML-KR 12 133431428 133431428 single base substitution C T downstream_gene_variant LAML-KR 12 133431428 133431428 single base substitution C T exon_variant LAML-KR 12 133431428 133431428 single base substitution C T intron_variant LAML-KR 12 133431428 133431428 single base substitution C T upstream_gene_variant LAML-KR 12 133433366 133433366 single base substitution T C downstream_gene_variant LAML-KR 12 133433366 133433366 single base substitution T C intron_variant LAML-KR 12 133433366 133433366 single base substitution T C upstream_gene_variant LAML-KR 12 133433367 133433367 single base substitution G A downstream_gene_variant LAML-KR 12 133433367 133433367 single base substitution G A intron_variant LAML-KR 12 133433367 133433367 single base substitution G A upstream_gene_variant LAML-KR 12 133433438 133433438 single base substitution A G downstream_gene_variant LAML-KR 12 133433438 133433438 single base substitution A G intron_variant LAML-KR 12 133433438 133433438 single base substitution A G upstream_gene_variant LAML-KR 12 133433599 133433599 single base substitution G T downstream_gene_variant LAML-KR 12 133433599 133433599 single base substitution G T intron_variant LAML-KR 12 133433599 133433599 single base substitution G T upstream_gene_variant LAML-KR 12 133433948 133433948 single base substitution C A downstream_gene_variant LAML-KR 12 133433948 133433948 single base substitution C A intron_variant LAML-KR 12 133433948 133433948 single base substitution C A upstream_gene_variant LAML-KR 12 133438274 133438274 single base substitution C G exon_variant LAML-KR 12 133438274 133438274 single base substitution C G intron_variant LAML-KR 12 133438274 133438274 single base substitution C G upstream_gene_variant LAML-KR 12 133445852 133445852 single base substitution C G downstream_gene_variant LAML-KR 12 133445852 133445852 single base substitution C G intron_variant LAML-KR 12 133447242 133447242 single base substitution T C downstream_gene_variant LAML-KR 12 133447242 133447242 single base substitution T C intron_variant LAML-KR 12 133450234 133450234 single base substitution G A downstream_gene_variant LAML-KR 12 133450234 133450234 single base substitution G A intron_variant LAML-KR 12 133459788 133459788 single base substitution A T intron_variant LAML-KR 12 133459788 133459788 single base substitution A T upstream_gene_variant LAML-KR 12 133461952 133461952 single base substitution G A intron_variant LAML-KR 12 133461952 133461952 single base substitution G A upstream_gene_variant LAML-KR 12 133461953 133461953 single base substitution C T intron_variant LAML-KR 12 133461953 133461953 single base substitution C T upstream_gene_variant LAML-KR 12 133469453 133469453 single base substitution A T intron_variant LAML-KR 12 133472574 133472574 single base substitution G A intron_variant LAML-KR 12 133472657 133472657 single base substitution A G intron_variant LAML-KR 12 133472845 133472845 single base substitution C T intron_variant LAML-KR 12 133473019 133473019 single base substitution T C intron_variant LAML-KR 12 133473092 133473092 single base substitution T C intron_variant LAML-KR 12 133473316 133473316 single base substitution C T intron_variant LAML-KR 12 133512519 133512519 single base substitution T C intron_variant LAML-KR 12 133516037 133516037 single base substitution T A intron_variant LAML-KR 12 133524373 133524373 single base substitution G T intron_variant LICA-CN 12 133502519 133502519 single base substitution T C intron_variant LICA-FR 12 133424694 133424694 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 12 133424694 133424694 single base substitution T A downstream_gene_variant LICA-FR 12 133424694 133424694 single base substitution T A exon_variant LICA-FR 12 133424694 133424694 single base substitution T A intron_variant LICA-FR 12 133424694 133424694 single base substitution T A missense_variant S176C 526A>T LICA-FR 12 133424694 133424694 single base substitution T A missense_variant S462C 1384A>T LICA-FR 12 133424694 133424694 single base substitution T A missense_variant S513C 1537A>T LICA-FR 12 133424694 133424694 single base substitution T A missense_variant S542C 1624A>T LICA-FR 12 133424694 133424694 single base substitution T A missense_variant S553C 1657A>T LICA-FR 12 133424694 133424694 single base substitution T A missense_variant S554C 1660A>T LICA-FR 12 133424694 133424694 single base substitution T A upstream_gene_variant LICA-FR 12 133440926 133440926 single base substitution A G intron_variant LICA-FR 12 133440926 133440926 single base substitution A G upstream_gene_variant LICA-FR 12 133469730 133469730 single base substitution C T intron_variant LICA-FR 12 133472085 133472085 single base substitution A G intron_variant LICA-FR 12 133472641 133472641 single base substitution C G intron_variant LICA-FR 12 133478000 133478000 single base substitution G T intron_variant LICA-FR 12 133494357 133494357 deletion of <=200bp A - intron_variant LICA-FR 12 133502645 133502645 deletion of <=200bp T - intron_variant LICA-FR 12 133503157 133503157 single base substitution T C intron_variant LICA-FR 12 133503351 133503351 single base substitution A C intron_variant LICA-FR 12 133509188 133509188 single base substitution T C intron_variant LICA-FR 12 133510112 133510112 single base substitution G C intron_variant LINC-JP 12 133398297 133398297 single base substitution G C downstream_gene_variant LINC-JP 12 133416495 133416495 single base substitution A T downstream_gene_variant LINC-JP 12 133416495 133416495 single base substitution A T intron_variant LINC-JP 12 133418737 133418737 deletion of <=200bp T - intron_variant LINC-JP 12 133420617 133420617 single base substitution C A downstream_gene_variant LINC-JP 12 133420617 133420617 single base substitution C A exon_variant LINC-JP 12 133420617 133420617 single base substitution C A missense_variant L247F 741G>T LINC-JP 12 133420617 133420617 single base substitution C A missense_variant L52F 156G>T LINC-JP 12 133420617 133420617 single base substitution C A missense_variant L533F 1599G>T LINC-JP 12 133420617 133420617 single base substitution C A missense_variant L584F 1752G>T LINC-JP 12 133420617 133420617 single base substitution C A missense_variant L613F 1839G>T LINC-JP 12 133420617 133420617 single base substitution C A missense_variant L624F 1872G>T LINC-JP 12 133420617 133420617 single base substitution C A missense_variant L625F 1875G>T LINC-JP 12 133428954 133428954 single base substitution T C downstream_gene_variant LINC-JP 12 133428954 133428954 single base substitution T C intron_variant LINC-JP 12 133428954 133428954 single base substitution T C upstream_gene_variant LINC-JP 12 133433135 133433135 single base substitution C A downstream_gene_variant LINC-JP 12 133433135 133433135 single base substitution C A exon_variant LINC-JP 12 133433135 133433135 single base substitution C A missense_variant R17M 50G>T LINC-JP 12 133433135 133433135 single base substitution C A missense_variant R303M 908G>T LINC-JP 12 133433135 133433135 single base substitution C A missense_variant R354M 1061G>T LINC-JP 12 133433135 133433135 single base substitution C A missense_variant R383M 1148G>T LINC-JP 12 133433135 133433135 single base substitution C A missense_variant R395M 1184G>T LINC-JP 12 133433135 133433135 single base substitution C A upstream_gene_variant LINC-JP 12 133435365 133435365 deletion of <=200bp A - downstream_gene_variant LINC-JP 12 133435365 133435365 deletion of <=200bp A - intron_variant LINC-JP 12 133435365 133435365 deletion of <=200bp A - upstream_gene_variant LINC-JP 12 133440763 133440763 deletion of <=200bp A - intron_variant LINC-JP 12 133440763 133440763 deletion of <=200bp A - upstream_gene_variant LINC-JP 12 133478983 133478983 deletion of <=200bp G - intron_variant LINC-JP 12 133502335 133502335 deletion of <=200bp T - intron_variant LINC-JP 12 133503019 133503019 single base substitution G A intron_variant LINC-JP 12 133522687 133522687 single base substitution C T intron_variant LINC-JP 12 133533114 133533114 deletion of <=200bp T - upstream_gene_variant LIRI-JP 12 133398098 133398098 single base substitution T C downstream_gene_variant LIRI-JP 12 133414514 133414514 single base substitution T G downstream_gene_variant LIRI-JP 12 133414514 133414514 single base substitution T G intron_variant LIRI-JP 12 133420097 133420097 single base substitution C T downstream_gene_variant LIRI-JP 12 133420097 133420097 single base substitution C T intron_variant LIRI-JP 12 133426114 133426114 single base substitution C T downstream_gene_variant LIRI-JP 12 133426114 133426114 single base substitution C T exon_variant LIRI-JP 12 133426114 133426114 single base substitution C T intron_variant LIRI-JP 12 133426114 133426114 single base substitution C T upstream_gene_variant LIRI-JP 12 133429531 133429531 single base substitution T C downstream_gene_variant LIRI-JP 12 133429531 133429531 single base substitution T C intron_variant LIRI-JP 12 133429531 133429531 single base substitution T C upstream_gene_variant LIRI-JP 12 133430496 133430496 single base substitution C A exon_variant LIRI-JP 12 133430496 133430496 single base substitution C A intron_variant LIRI-JP 12 133430496 133430496 single base substitution C A upstream_gene_variant LIRI-JP 12 133434215 133434215 single base substitution C T downstream_gene_variant LIRI-JP 12 133434215 133434215 single base substitution C T intron_variant LIRI-JP 12 133434215 133434215 single base substitution C T upstream_gene_variant LIRI-JP 12 133440163 133440163 single base substitution T C intron_variant LIRI-JP 12 133440163 133440163 single base substitution T C upstream_gene_variant LIRI-JP 12 133440726 133440726 single base substitution C G intron_variant LIRI-JP 12 133440726 133440726 single base substitution C G upstream_gene_variant LIRI-JP 12 133441747 133441747 single base substitution C T downstream_gene_variant LIRI-JP 12 133441747 133441747 single base substitution C T intron_variant LIRI-JP 12 133441747 133441747 single base substitution C T upstream_gene_variant LIRI-JP 12 133454711 133454726 deletion of <=200bp CACCCTCTCAAAGACA - intron_variant LIRI-JP 12 133481330 133481330 single base substitution G A intron_variant LIRI-JP 12 133481587 133481587 single base substitution C T intron_variant LIRI-JP 12 133481587 133481587 single base substitution C T upstream_gene_variant LIRI-JP 12 133483004 133483004 single base substitution G A intron_variant LIRI-JP 12 133483004 133483004 single base substitution G A upstream_gene_variant LIRI-JP 12 133495122 133495122 single base substitution A T intron_variant LIRI-JP 12 133497068 133497068 single base substitution C T intron_variant LIRI-JP 12 133498725 133498725 single base substitution G T intron_variant LIRI-JP 12 133501712 133501712 single base substitution G A intron_variant LIRI-JP 12 133502201 133502201 single base substitution C T intron_variant LUSC-KR 12 133394590 133394590 single base substitution T C downstream_gene_variant LUSC-KR 12 133402661 133402661 single base substitution C T intron_variant LUSC-KR 12 133402805 133402805 single base substitution T A intron_variant LUSC-KR 12 133405256 133405256 single base substitution C A intron_variant LUSC-KR 12 133409513 133409513 single base substitution C T intron_variant LUSC-KR 12 133412673 133412673 single base substitution G A downstream_gene_variant LUSC-KR 12 133412673 133412673 single base substitution G A intron_variant LUSC-KR 12 133413092 133413092 single base substitution C G downstream_gene_variant LUSC-KR 12 133413092 133413092 single base substitution C G intron_variant LUSC-KR 12 133415923 133415923 single base substitution A C downstream_gene_variant LUSC-KR 12 133415923 133415923 single base substitution A C intron_variant LUSC-KR 12 133415990 133415990 single base substitution C T downstream_gene_variant LUSC-KR 12 133415990 133415990 single base substitution C T intron_variant LUSC-KR 12 133423603 133423603 single base substitution G C downstream_gene_variant LUSC-KR 12 133423603 133423603 single base substitution G C intron_variant LUSC-KR 12 133424453 133424453 single base substitution A G downstream_gene_variant LUSC-KR 12 133424453 133424453 single base substitution A G exon_variant LUSC-KR 12 133424453 133424453 single base substitution A G intron_variant LUSC-KR 12 133424453 133424453 single base substitution A G upstream_gene_variant LUSC-KR 12 133425486 133425486 single base substitution T C downstream_gene_variant LUSC-KR 12 133425486 133425486 single base substitution T C exon_variant LUSC-KR 12 133425486 133425486 single base substitution T C intron_variant LUSC-KR 12 133425486 133425486 single base substitution T C upstream_gene_variant LUSC-KR 12 133426640 133426640 single base substitution C T downstream_gene_variant LUSC-KR 12 133426640 133426640 single base substitution C T intron_variant LUSC-KR 12 133426640 133426640 single base substitution C T upstream_gene_variant LUSC-KR 12 133427983 133427983 single base substitution C A downstream_gene_variant LUSC-KR 12 133427983 133427983 single base substitution C A intron_variant LUSC-KR 12 133427983 133427983 single base substitution C A upstream_gene_variant LUSC-KR 12 133428497 133428497 single base substitution C G downstream_gene_variant LUSC-KR 12 133428497 133428497 single base substitution C G intron_variant LUSC-KR 12 133428497 133428497 single base substitution C G upstream_gene_variant LUSC-KR 12 133433624 133433624 single base substitution A G downstream_gene_variant LUSC-KR 12 133433624 133433624 single base substitution A G intron_variant LUSC-KR 12 133433624 133433624 single base substitution A G upstream_gene_variant LUSC-KR 12 133435797 133435797 single base substitution C G downstream_gene_variant LUSC-KR 12 133435797 133435797 single base substitution C G exon_variant LUSC-KR 12 133435797 133435797 single base substitution C G synonymous_variant L176L 528G>C LUSC-KR 12 133435797 133435797 single base substitution C G synonymous_variant L227L 681G>C LUSC-KR 12 133435797 133435797 single base substitution C G synonymous_variant L256L 768G>C LUSC-KR 12 133435797 133435797 single base substitution C G synonymous_variant L268L 804G>C LUSC-KR 12 133435797 133435797 single base substitution C G upstream_gene_variant LUSC-KR 12 133438440 133438440 single base substitution C T exon_variant LUSC-KR 12 133438440 133438440 single base substitution C T intron_variant LUSC-KR 12 133438440 133438440 single base substitution C T upstream_gene_variant LUSC-KR 12 133438807 133438807 single base substitution G T intron_variant LUSC-KR 12 133438807 133438807 single base substitution G T upstream_gene_variant LUSC-KR 12 133439784 133439784 single base substitution A C intron_variant LUSC-KR 12 133439784 133439784 single base substitution A C upstream_gene_variant LUSC-KR 12 133443551 133443551 single base substitution C T downstream_gene_variant LUSC-KR 12 133443551 133443551 single base substitution C T intron_variant LUSC-KR 12 133445848 133445848 single base substitution G C downstream_gene_variant LUSC-KR 12 133445848 133445848 single base substitution G C intron_variant LUSC-KR 12 133446755 133446755 single base substitution G A downstream_gene_variant LUSC-KR 12 133446755 133446755 single base substitution G A intron_variant LUSC-KR 12 133447138 133447138 single base substitution T A downstream_gene_variant LUSC-KR 12 133447138 133447138 single base substitution T A intron_variant LUSC-KR 12 133448509 133448509 single base substitution C T downstream_gene_variant LUSC-KR 12 133448509 133448509 single base substitution C T exon_variant LUSC-KR 12 133448509 133448509 single base substitution C T intron_variant LUSC-KR 12 133451380 133451380 single base substitution C A downstream_gene_variant LUSC-KR 12 133451380 133451380 single base substitution C A intron_variant LUSC-KR 12 133464659 133464659 single base substitution G T intron_variant LUSC-KR 12 133464659 133464659 single base substitution G T upstream_gene_variant LUSC-KR 12 133469384 133469384 single base substitution C T intron_variant LUSC-KR 12 133469453 133469453 single base substitution A T intron_variant LUSC-KR 12 133469533 133469533 single base substitution G A intron_variant LUSC-KR 12 133471111 133471111 single base substitution C G intron_variant LUSC-KR 12 133471523 133471523 single base substitution C T intron_variant LUSC-KR 12 133471930 133471930 single base substitution G A intron_variant LUSC-KR 12 133471963 133471963 single base substitution C T intron_variant LUSC-KR 12 133472319 133472319 single base substitution C T intron_variant LUSC-KR 12 133472690 133472690 single base substitution T C intron_variant LUSC-KR 12 133472723 133472723 single base substitution C T intron_variant LUSC-KR 12 133472948 133472948 single base substitution T C intron_variant LUSC-KR 12 133472993 133472993 single base substitution T C intron_variant LUSC-KR 12 133473058 133473058 single base substitution G A intron_variant LUSC-KR 12 133473087 133473087 single base substitution T C intron_variant LUSC-KR 12 133473938 133473938 single base substitution C G intron_variant LUSC-KR 12 133474196 133474196 single base substitution C G intron_variant LUSC-KR 12 133475968 133475968 single base substitution A C intron_variant LUSC-KR 12 133476641 133476641 single base substitution G T intron_variant LUSC-KR 12 133478733 133478733 single base substitution G T intron_variant LUSC-KR 12 133479902 133479902 single base substitution G A intron_variant LUSC-KR 12 133481302 133481302 single base substitution C A intron_variant LUSC-KR 12 133483914 133483914 single base substitution T C intron_variant LUSC-KR 12 133483914 133483914 single base substitution T C upstream_gene_variant LUSC-KR 12 133487049 133487049 single base substitution C T intron_variant LUSC-KR 12 133487049 133487049 single base substitution C T upstream_gene_variant LUSC-KR 12 133488901 133488901 single base substitution A G intron_variant LUSC-KR 12 133488901 133488901 single base substitution A G upstream_gene_variant LUSC-KR 12 133497319 133497319 single base substitution C A intron_variant LUSC-KR 12 133497320 133497320 single base substitution C T intron_variant LUSC-KR 12 133498093 133498093 single base substitution T A intron_variant LUSC-KR 12 133498766 133498766 single base substitution A G intron_variant LUSC-KR 12 133499855 133499855 single base substitution C T intron_variant LUSC-KR 12 133499881 133499881 single base substitution G C intron_variant LUSC-KR 12 133500432 133500432 single base substitution T A intron_variant LUSC-KR 12 133506733 133506733 single base substitution C G intron_variant LUSC-KR 12 133512139 133512139 single base substitution C G intron_variant LUSC-KR 12 133512508 133512508 single base substitution G A intron_variant LUSC-KR 12 133515804 133515804 single base substitution G A intron_variant LUSC-KR 12 133524373 133524373 single base substitution G T intron_variant LUSC-KR 12 133525785 133525785 single base substitution T G intron_variant LUSC-US 12 133398645 133398645 single base substitution G T downstream_gene_variant LUSC-US 12 133419614 133419614 single base substitution C T exon_variant LUSC-US 12 133419614 133419614 single base substitution C T synonymous_variant V267V 801G>A LUSC-US 12 133419614 133419614 single base substitution C T synonymous_variant V553V 1659G>A LUSC-US 12 133419614 133419614 single base substitution C T synonymous_variant V604V 1812G>A LUSC-US 12 133419614 133419614 single base substitution C T synonymous_variant V633V 1899G>A LUSC-US 12 133419614 133419614 single base substitution C T synonymous_variant V644V 1932G>A LUSC-US 12 133419614 133419614 single base substitution C T synonymous_variant V645V 1935G>A LUSC-US 12 133419614 133419614 single base substitution C T synonymous_variant V72V 216G>A LUSC-US 12 133435727 133435727 single base substitution C A downstream_gene_variant LUSC-US 12 133435727 133435727 single base substitution C A exon_variant LUSC-US 12 133435727 133435727 single base substitution C A missense_variant A200S 598G>T LUSC-US 12 133435727 133435727 single base substitution C A missense_variant A251S 751G>T LUSC-US 12 133435727 133435727 single base substitution C A missense_variant A280S 838G>T LUSC-US 12 133435727 133435727 single base substitution C A missense_variant A292S 874G>T LUSC-US 12 133435727 133435727 single base substitution C A upstream_gene_variant LUSC-US 12 133435751 133435751 single base substitution C T downstream_gene_variant LUSC-US 12 133435751 133435751 single base substitution C T exon_variant LUSC-US 12 133435751 133435751 single base substitution C T missense_variant V192I 574G>A LUSC-US 12 133435751 133435751 single base substitution C T missense_variant V243I 727G>A LUSC-US 12 133435751 133435751 single base substitution C T missense_variant V272I 814G>A LUSC-US 12 133435751 133435751 single base substitution C T missense_variant V284I 850G>A LUSC-US 12 133435751 133435751 single base substitution C T upstream_gene_variant LUSC-US 12 133435753 133435753 single base substitution G A downstream_gene_variant LUSC-US 12 133435753 133435753 single base substitution G A exon_variant LUSC-US 12 133435753 133435753 single base substitution G A missense_variant T191I 572C>T LUSC-US 12 133435753 133435753 single base substitution G A missense_variant T242I 725C>T LUSC-US 12 133435753 133435753 single base substitution G A missense_variant T271I 812C>T LUSC-US 12 133435753 133435753 single base substitution G A missense_variant T283I 848C>T LUSC-US 12 133435753 133435753 single base substitution G A upstream_gene_variant MALY-DE 12 133396710 133396710 single base substitution C G downstream_gene_variant MALY-DE 12 133404998 133404998 single base substitution G T intron_variant MALY-DE 12 133417134 133417134 single base substitution T C 3_prime_UTR_variant MALY-DE 12 133417134 133417134 single base substitution T C downstream_gene_variant MALY-DE 12 133417134 133417134 single base substitution T C exon_variant MALY-DE 12 133417134 133417134 single base substitution T C intron_variant MALY-DE 12 133417311 133417311 single base substitution C G 3_prime_UTR_variant MALY-DE 12 133417311 133417311 single base substitution C G downstream_gene_variant MALY-DE 12 133417311 133417311 single base substitution C G exon_variant MALY-DE 12 133417311 133417311 single base substitution C G intron_variant MALY-DE 12 133421038 133421038 deletion of <=200bp T - downstream_gene_variant MALY-DE 12 133421038 133421038 deletion of <=200bp T - intron_variant MALY-DE 12 133421047 133421047 insertion of <=200bp - CT downstream_gene_variant MALY-DE 12 133421047 133421047 insertion of <=200bp - CT intron_variant MALY-DE 12 133432839 133432839 single base substitution C T downstream_gene_variant MALY-DE 12 133432839 133432839 single base substitution C T intron_variant MALY-DE 12 133432839 133432839 single base substitution C T upstream_gene_variant MALY-DE 12 133443140 133443140 deletion of <=200bp G - downstream_gene_variant MALY-DE 12 133443140 133443140 deletion of <=200bp G - intron_variant MALY-DE 12 133443140 133443140 deletion of <=200bp G - upstream_gene_variant MALY-DE 12 133444574 133444574 single base substitution C T downstream_gene_variant MALY-DE 12 133444574 133444574 single base substitution C T intron_variant MALY-DE 12 133453533 133453533 single base substitution A G downstream_gene_variant MALY-DE 12 133453533 133453533 single base substitution A G intron_variant MALY-DE 12 133464672 133464672 single base substitution T G intron_variant MALY-DE 12 133464672 133464672 single base substitution T G upstream_gene_variant MALY-DE 12 133467884 133467884 single base substitution G A intron_variant MALY-DE 12 133467884 133467884 single base substitution G A upstream_gene_variant MALY-DE 12 133470091 133470091 single base substitution C T intron_variant MALY-DE 12 133470325 133470325 single base substitution G A intron_variant MALY-DE 12 133474557 133474557 single base substitution C A intron_variant MALY-DE 12 133475397 133475397 single base substitution G A intron_variant MALY-DE 12 133475432 133475432 single base substitution C G intron_variant MALY-DE 12 133477818 133477818 single base substitution T A intron_variant MALY-DE 12 133499796 133499796 single base substitution A T intron_variant MELA-AU 12 133395038 133395038 single base substitution G A downstream_gene_variant MELA-AU 12 133395305 133395305 single base substitution G A downstream_gene_variant MELA-AU 12 133395725 133395725 single base substitution G A downstream_gene_variant MELA-AU 12 133395819 133395819 single base substitution A G downstream_gene_variant MELA-AU 12 133395932 133395932 single base substitution G A downstream_gene_variant MELA-AU 12 133398363 133398363 single base substitution C T downstream_gene_variant MELA-AU 12 133398537 133398537 single base substitution C T downstream_gene_variant MELA-AU 12 133398586 133398586 single base substitution G A downstream_gene_variant MELA-AU 12 133398645 133398645 single base substitution G A downstream_gene_variant MELA-AU 12 133398697 133398697 single base substitution G A downstream_gene_variant MELA-AU 12 133399293 133399293 single base substitution G A intron_variant MELA-AU 12 133399495 133399495 single base substitution G A intron_variant MELA-AU 12 133399553 133399553 single base substitution T C intron_variant MELA-AU 12 133399746 133399746 single base substitution C T intron_variant MELA-AU 12 133399806 133399807 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 133399960 133399960 single base substitution C G intron_variant MELA-AU 12 133400097 133400097 single base substitution T A intron_variant MELA-AU 12 133400246 133400246 single base substitution G A intron_variant MELA-AU 12 133400317 133400317 single base substitution G A intron_variant MELA-AU 12 133400504 133400504 single base substitution A G intron_variant MELA-AU 12 133400854 133400854 single base substitution A T intron_variant MELA-AU 12 133401315 133401315 single base substitution G A intron_variant MELA-AU 12 133402392 133402394 deletion of <=200bp TAC - intron_variant MELA-AU 12 133402839 133402839 single base substitution A G intron_variant MELA-AU 12 133403015 133403015 single base substitution G A intron_variant MELA-AU 12 133403065 133403065 single base substitution G A intron_variant MELA-AU 12 133403067 133403067 single base substitution G C intron_variant MELA-AU 12 133403169 133403169 single base substitution C T intron_variant MELA-AU 12 133403649 133403649 deletion of <=200bp C - intron_variant MELA-AU 12 133404133 133404133 single base substitution G A intron_variant MELA-AU 12 133404805 133404805 single base substitution C G intron_variant MELA-AU 12 133404812 133404812 single base substitution G A intron_variant MELA-AU 12 133405069 133405069 single base substitution G A intron_variant MELA-AU 12 133405705 133405705 single base substitution C T intron_variant MELA-AU 12 133405707 133405707 single base substitution G A intron_variant MELA-AU 12 133405708 133405708 single base substitution G A intron_variant MELA-AU 12 133405719 133405719 single base substitution G A intron_variant MELA-AU 12 133405731 133405731 single base substitution G A intron_variant MELA-AU 12 133406556 133406556 single base substitution G A intron_variant MELA-AU 12 133406683 133406683 single base substitution G A intron_variant MELA-AU 12 133407003 133407030 deletion of <=200bp ATCAAGACTATCCTGGCCAACATGGTGA - intron_variant MELA-AU 12 133407068 133407068 single base substitution G A intron_variant MELA-AU 12 133407185 133407185 single base substitution G A intron_variant MELA-AU 12 133407791 133407791 single base substitution G A intron_variant MELA-AU 12 133408010 133408010 single base substitution G A intron_variant MELA-AU 12 133408094 133408094 single base substitution A T intron_variant MELA-AU 12 133409049 133409049 single base substitution A G intron_variant MELA-AU 12 133409423 133409423 single base substitution A C intron_variant MELA-AU 12 133409447 133409447 single base substitution G A intron_variant MELA-AU 12 133409469 133409469 single base substitution G A intron_variant MELA-AU 12 133409512 133409512 single base substitution A T intron_variant MELA-AU 12 133409584 133409584 single base substitution G A intron_variant MELA-AU 12 133409717 133409717 single base substitution G A intron_variant MELA-AU 12 133409740 133409740 single base substitution G A intron_variant MELA-AU 12 133409762 133409762 single base substitution C T intron_variant MELA-AU 12 133410108 133410108 single base substitution A C intron_variant MELA-AU 12 133410573 133410573 single base substitution G A intron_variant MELA-AU 12 133411118 133411118 single base substitution T C intron_variant MELA-AU 12 133411124 133411124 single base substitution G A intron_variant MELA-AU 12 133411628 133411628 single base substitution C G intron_variant MELA-AU 12 133411782 133411782 single base substitution G A intron_variant MELA-AU 12 133412126 133412126 single base substitution G A downstream_gene_variant MELA-AU 12 133412126 133412126 single base substitution G A intron_variant MELA-AU 12 133412337 133412337 single base substitution C T downstream_gene_variant MELA-AU 12 133412337 133412337 single base substitution C T intron_variant MELA-AU 12 133412463 133412463 single base substitution G A downstream_gene_variant MELA-AU 12 133412463 133412463 single base substitution G A intron_variant MELA-AU 12 133412469 133412469 single base substitution C G downstream_gene_variant MELA-AU 12 133412469 133412469 single base substitution C G intron_variant MELA-AU 12 133412821 133412821 single base substitution G A downstream_gene_variant MELA-AU 12 133412821 133412821 single base substitution G A intron_variant MELA-AU 12 133413092 133413092 single base substitution C G downstream_gene_variant MELA-AU 12 133413092 133413092 single base substitution C G intron_variant MELA-AU 12 133413704 133413704 single base substitution A G downstream_gene_variant MELA-AU 12 133413704 133413704 single base substitution A G intron_variant MELA-AU 12 133413721 133413721 single base substitution G A downstream_gene_variant MELA-AU 12 133413721 133413721 single base substitution G A intron_variant MELA-AU 12 133414419 133414419 single base substitution G A downstream_gene_variant MELA-AU 12 133414419 133414419 single base substitution G A intron_variant MELA-AU 12 133414560 133414560 single base substitution C A downstream_gene_variant MELA-AU 12 133414560 133414560 single base substitution C A intron_variant MELA-AU 12 133414662 133414662 single base substitution G A downstream_gene_variant MELA-AU 12 133414662 133414662 single base substitution G A intron_variant MELA-AU 12 133414715 133414715 single base substitution C T downstream_gene_variant MELA-AU 12 133414715 133414715 single base substitution C T intron_variant MELA-AU 12 133415135 133415135 single base substitution G A downstream_gene_variant MELA-AU 12 133415135 133415135 single base substitution G A intron_variant MELA-AU 12 133415662 133415662 single base substitution G A downstream_gene_variant MELA-AU 12 133415662 133415662 single base substitution G A intron_variant MELA-AU 12 133415738 133415738 single base substitution G A downstream_gene_variant MELA-AU 12 133415738 133415738 single base substitution G A intron_variant MELA-AU 12 133415771 133415772 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 133415771 133415772 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 133415772 133415772 single base substitution G A downstream_gene_variant MELA-AU 12 133415772 133415772 single base substitution G A intron_variant MELA-AU 12 133416125 133416125 single base substitution C T downstream_gene_variant MELA-AU 12 133416125 133416125 single base substitution C T intron_variant MELA-AU 12 133416385 133416385 single base substitution A T downstream_gene_variant MELA-AU 12 133416385 133416385 single base substitution A T intron_variant MELA-AU 12 133416976 133416976 single base substitution G A 3_prime_UTR_variant MELA-AU 12 133416976 133416976 single base substitution G A downstream_gene_variant MELA-AU 12 133416976 133416976 single base substitution G A exon_variant MELA-AU 12 133416976 133416976 single base substitution G A intron_variant MELA-AU 12 133417257 133417257 single base substitution G A 3_prime_UTR_variant MELA-AU 12 133417257 133417257 single base substitution G A downstream_gene_variant MELA-AU 12 133417257 133417257 single base substitution G A exon_variant MELA-AU 12 133417257 133417257 single base substitution G A intron_variant MELA-AU 12 133417425 133417425 single base substitution C T 3_prime_UTR_variant MELA-AU 12 133417425 133417425 single base substitution C T downstream_gene_variant MELA-AU 12 133417425 133417425 single base substitution C T exon_variant MELA-AU 12 133417425 133417425 single base substitution C T intron_variant MELA-AU 12 133417436 133417436 single base substitution C T 3_prime_UTR_variant MELA-AU 12 133417436 133417436 single base substitution C T downstream_gene_variant MELA-AU 12 133417436 133417436 single base substitution C T exon_variant MELA-AU 12 133417436 133417436 single base substitution C T intron_variant MELA-AU 12 133417437 133417438 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 133417437 133417438 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 133417437 133417438 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 12 133417437 133417438 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 133417552 133417552 single base substitution T A 3_prime_UTR_variant MELA-AU 12 133417552 133417552 single base substitution T A downstream_gene_variant MELA-AU 12 133417552 133417552 single base substitution T A exon_variant MELA-AU 12 133417552 133417552 single base substitution T A intron_variant MELA-AU 12 133417677 133417677 single base substitution G A 3_prime_UTR_variant MELA-AU 12 133417677 133417677 single base substitution G A downstream_gene_variant MELA-AU 12 133417677 133417677 single base substitution G A exon_variant MELA-AU 12 133417677 133417677 single base substitution G A intron_variant MELA-AU 12 133418069 133418069 single base substitution C T 3_prime_UTR_variant MELA-AU 12 133418069 133418069 single base substitution C T exon_variant MELA-AU 12 133418069 133418069 single base substitution C T intron_variant MELA-AU 12 133418451 133418451 single base substitution G A intron_variant MELA-AU 12 133419768 133419768 single base substitution G A downstream_gene_variant MELA-AU 12 133419768 133419768 single base substitution G A intron_variant MELA-AU 12 133419808 133419808 single base substitution G A downstream_gene_variant MELA-AU 12 133419808 133419808 single base substitution G A intron_variant MELA-AU 12 133419828 133419828 single base substitution G A downstream_gene_variant MELA-AU 12 133419828 133419828 single base substitution G A intron_variant MELA-AU 12 133419838 133419838 single base substitution A G downstream_gene_variant MELA-AU 12 133419838 133419838 single base substitution A G intron_variant MELA-AU 12 133420047 133420047 single base substitution A G downstream_gene_variant MELA-AU 12 133420047 133420047 single base substitution A G intron_variant MELA-AU 12 133420257 133420257 single base substitution A C downstream_gene_variant MELA-AU 12 133420257 133420257 single base substitution A C intron_variant MELA-AU 12 133420372 133420372 single base substitution T A downstream_gene_variant MELA-AU 12 133420372 133420372 single base substitution T A intron_variant MELA-AU 12 133420554 133420554 single base substitution G A downstream_gene_variant MELA-AU 12 133420554 133420554 single base substitution G A intron_variant MELA-AU 12 133420594 133420594 single base substitution G A downstream_gene_variant MELA-AU 12 133420594 133420594 single base substitution G A intron_variant MELA-AU 12 133420649 133420649 single base substitution G A downstream_gene_variant MELA-AU 12 133420649 133420649 single base substitution G A exon_variant MELA-AU 12 133420649 133420649 single base substitution G A stop_gained Q237* 709C>T MELA-AU 12 133420649 133420649 single base substitution G A stop_gained Q42* 124C>T MELA-AU 12 133420649 133420649 single base substitution G A stop_gained Q523* 1567C>T MELA-AU 12 133420649 133420649 single base substitution G A stop_gained Q574* 1720C>T MELA-AU 12 133420649 133420649 single base substitution G A stop_gained Q603* 1807C>T MELA-AU 12 133420649 133420649 single base substitution G A stop_gained Q614* 1840C>T MELA-AU 12 133420649 133420649 single base substitution G A stop_gained Q615* 1843C>T MELA-AU 12 133421125 133421125 single base substitution C T downstream_gene_variant MELA-AU 12 133421125 133421125 single base substitution C T intron_variant MELA-AU 12 133421133 133421133 single base substitution G A downstream_gene_variant MELA-AU 12 133421133 133421133 single base substitution G A intron_variant MELA-AU 12 133421213 133421213 single base substitution A C downstream_gene_variant MELA-AU 12 133421213 133421213 single base substitution A C intron_variant MELA-AU 12 133421279 133421279 single base substitution G A downstream_gene_variant MELA-AU 12 133421279 133421279 single base substitution G A intron_variant MELA-AU 12 133421765 133421765 single base substitution G A downstream_gene_variant MELA-AU 12 133421765 133421765 single base substitution G A intron_variant MELA-AU 12 133421861 133421861 single base substitution G A downstream_gene_variant MELA-AU 12 133421861 133421861 single base substitution G A intron_variant MELA-AU 12 133422157 133422157 single base substitution G A downstream_gene_variant MELA-AU 12 133422157 133422157 single base substitution G A intron_variant MELA-AU 12 133422368 133422368 insertion of <=200bp - GGTGACTT downstream_gene_variant MELA-AU 12 133422368 133422368 insertion of <=200bp - GGTGACTT intron_variant MELA-AU 12 133422880 133422880 single base substitution G A downstream_gene_variant MELA-AU 12 133422880 133422880 single base substitution G A intron_variant MELA-AU 12 133423407 133423407 single base substitution C T downstream_gene_variant MELA-AU 12 133423407 133423407 single base substitution C T intron_variant MELA-AU 12 133423487 133423487 single base substitution A T downstream_gene_variant MELA-AU 12 133423487 133423487 single base substitution A T intron_variant MELA-AU 12 133423695 133423695 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 133423695 133423695 single base substitution A G downstream_gene_variant MELA-AU 12 133423695 133423695 single base substitution A G exon_variant MELA-AU 12 133423695 133423695 single base substitution A G synonymous_variant L191L 571T>C MELA-AU 12 133423695 133423695 single base substitution A G synonymous_variant L477L 1429T>C MELA-AU 12 133423695 133423695 single base substitution A G synonymous_variant L528L 1582T>C MELA-AU 12 133423695 133423695 single base substitution A G synonymous_variant L557L 1669T>C MELA-AU 12 133423695 133423695 single base substitution A G synonymous_variant L568L 1702T>C MELA-AU 12 133423695 133423695 single base substitution A G synonymous_variant L569L 1705T>C MELA-AU 12 133423738 133423738 single base substitution G A downstream_gene_variant MELA-AU 12 133423738 133423738 single base substitution G A exon_variant MELA-AU 12 133423738 133423738 single base substitution G A intron_variant MELA-AU 12 133423784 133423784 single base substitution G A downstream_gene_variant MELA-AU 12 133423784 133423784 single base substitution G A exon_variant MELA-AU 12 133423784 133423784 single base substitution G A intron_variant MELA-AU 12 133423910 133423910 single base substitution G A downstream_gene_variant MELA-AU 12 133423910 133423910 single base substitution G A exon_variant MELA-AU 12 133423910 133423910 single base substitution G A intron_variant MELA-AU 12 133424101 133424101 single base substitution G A downstream_gene_variant MELA-AU 12 133424101 133424101 single base substitution G A exon_variant MELA-AU 12 133424101 133424101 single base substitution G A intron_variant MELA-AU 12 133424385 133424385 single base substitution G A downstream_gene_variant MELA-AU 12 133424385 133424385 single base substitution G A exon_variant MELA-AU 12 133424385 133424385 single base substitution G A intron_variant MELA-AU 12 133424567 133424567 single base substitution G A downstream_gene_variant MELA-AU 12 133424567 133424567 single base substitution G A intron_variant MELA-AU 12 133424567 133424567 single base substitution G A upstream_gene_variant MELA-AU 12 133425496 133425496 single base substitution G A downstream_gene_variant MELA-AU 12 133425496 133425496 single base substitution G A exon_variant MELA-AU 12 133425496 133425496 single base substitution G A intron_variant MELA-AU 12 133425496 133425496 single base substitution G A upstream_gene_variant MELA-AU 12 133425822 133425823 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 12 133425822 133425823 multiple base substitution (>=2bp and <=200bp) AC TT exon_variant MELA-AU 12 133425822 133425823 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 12 133425822 133425823 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 12 133426420 133426420 single base substitution C A downstream_gene_variant MELA-AU 12 133426420 133426420 single base substitution C A exon_variant MELA-AU 12 133426420 133426420 single base substitution C A intron_variant MELA-AU 12 133426420 133426420 single base substitution C A upstream_gene_variant MELA-AU 12 133426483 133426483 single base substitution T C downstream_gene_variant MELA-AU 12 133426483 133426483 single base substitution T C exon_variant MELA-AU 12 133426483 133426483 single base substitution T C intron_variant MELA-AU 12 133426483 133426483 single base substitution T C upstream_gene_variant MELA-AU 12 133426674 133426674 single base substitution G A downstream_gene_variant MELA-AU 12 133426674 133426674 single base substitution G A intron_variant MELA-AU 12 133426674 133426674 single base substitution G A upstream_gene_variant MELA-AU 12 133426802 133426802 single base substitution G A downstream_gene_variant MELA-AU 12 133426802 133426802 single base substitution G A intron_variant MELA-AU 12 133426802 133426802 single base substitution G A upstream_gene_variant MELA-AU 12 133427761 133427761 single base substitution G A downstream_gene_variant MELA-AU 12 133427761 133427761 single base substitution G A intron_variant MELA-AU 12 133427761 133427761 single base substitution G A upstream_gene_variant MELA-AU 12 133427791 133427792 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 133427791 133427792 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 133427791 133427792 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 133428101 133428101 single base substitution G A downstream_gene_variant MELA-AU 12 133428101 133428101 single base substitution G A intron_variant MELA-AU 12 133428101 133428101 single base substitution G A upstream_gene_variant MELA-AU 12 133428131 133428131 single base substitution C T downstream_gene_variant MELA-AU 12 133428131 133428131 single base substitution C T intron_variant MELA-AU 12 133428131 133428131 single base substitution C T upstream_gene_variant MELA-AU 12 133428387 133428387 single base substitution G A downstream_gene_variant MELA-AU 12 133428387 133428387 single base substitution G A intron_variant MELA-AU 12 133428387 133428387 single base substitution G A upstream_gene_variant MELA-AU 12 133428398 133428398 single base substitution G A downstream_gene_variant MELA-AU 12 133428398 133428398 single base substitution G A intron_variant MELA-AU 12 133428398 133428398 single base substitution G A upstream_gene_variant MELA-AU 12 133428439 133428439 single base substitution G A downstream_gene_variant MELA-AU 12 133428439 133428439 single base substitution G A intron_variant MELA-AU 12 133428439 133428439 single base substitution G A upstream_gene_variant MELA-AU 12 133428772 133428772 single base substitution C T downstream_gene_variant MELA-AU 12 133428772 133428772 single base substitution C T intron_variant MELA-AU 12 133428772 133428772 single base substitution C T upstream_gene_variant MELA-AU 12 133429780 133429780 single base substitution C T downstream_gene_variant MELA-AU 12 133429780 133429780 single base substitution C T intron_variant MELA-AU 12 133429780 133429780 single base substitution C T upstream_gene_variant MELA-AU 12 133430801 133430801 single base substitution G A downstream_gene_variant MELA-AU 12 133430801 133430801 single base substitution G A intron_variant MELA-AU 12 133430801 133430801 single base substitution G A upstream_gene_variant MELA-AU 12 133430879 133430879 single base substitution G A downstream_gene_variant MELA-AU 12 133430879 133430879 single base substitution G A exon_variant MELA-AU 12 133430879 133430879 single base substitution G A intron_variant MELA-AU 12 133430879 133430879 single base substitution G A upstream_gene_variant MELA-AU 12 133431027 133431027 single base substitution G A downstream_gene_variant MELA-AU 12 133431027 133431027 single base substitution G A exon_variant MELA-AU 12 133431027 133431027 single base substitution G A intron_variant MELA-AU 12 133431027 133431027 single base substitution G A upstream_gene_variant MELA-AU 12 133431300 133431300 single base substitution G A downstream_gene_variant MELA-AU 12 133431300 133431300 single base substitution G A exon_variant MELA-AU 12 133431300 133431300 single base substitution G A intron_variant MELA-AU 12 133431300 133431300 single base substitution G A upstream_gene_variant MELA-AU 12 133431804 133431804 single base substitution G A downstream_gene_variant MELA-AU 12 133431804 133431804 single base substitution G A intron_variant MELA-AU 12 133431804 133431804 single base substitution G A upstream_gene_variant MELA-AU 12 133433047 133433047 single base substitution G A downstream_gene_variant MELA-AU 12 133433047 133433047 single base substitution G A intron_variant MELA-AU 12 133433047 133433047 single base substitution G A splice_region_variant MELA-AU 12 133433047 133433047 single base substitution G A upstream_gene_variant MELA-AU 12 133433169 133433169 single base substitution T C downstream_gene_variant MELA-AU 12 133433169 133433169 single base substitution T C exon_variant MELA-AU 12 133433169 133433169 single base substitution T C missense_variant K292E 874A>G MELA-AU 12 133433169 133433169 single base substitution T C missense_variant K343E 1027A>G MELA-AU 12 133433169 133433169 single base substitution T C missense_variant K372E 1114A>G MELA-AU 12 133433169 133433169 single base substitution T C missense_variant K384E 1150A>G MELA-AU 12 133433169 133433169 single base substitution T C missense_variant K6E 16A>G MELA-AU 12 133433169 133433169 single base substitution T C upstream_gene_variant MELA-AU 12 133433685 133433685 single base substitution G A downstream_gene_variant MELA-AU 12 133433685 133433685 single base substitution G A intron_variant MELA-AU 12 133433685 133433685 single base substitution G A upstream_gene_variant MELA-AU 12 133433693 133433693 single base substitution C T downstream_gene_variant MELA-AU 12 133433693 133433693 single base substitution C T intron_variant MELA-AU 12 133433693 133433693 single base substitution C T upstream_gene_variant MELA-AU 12 133433909 133433909 single base substitution G A downstream_gene_variant MELA-AU 12 133433909 133433909 single base substitution G A intron_variant MELA-AU 12 133433909 133433909 single base substitution G A upstream_gene_variant MELA-AU 12 133434094 133434094 single base substitution C T downstream_gene_variant MELA-AU 12 133434094 133434094 single base substitution C T exon_variant MELA-AU 12 133434094 133434094 single base substitution C T missense_variant M241I 723G>A MELA-AU 12 133434094 133434094 single base substitution C T missense_variant M292I 876G>A MELA-AU 12 133434094 133434094 single base substitution C T missense_variant M321I 963G>A MELA-AU 12 133434094 133434094 single base substitution C T missense_variant M333I 999G>A MELA-AU 12 133434094 133434094 single base substitution C T upstream_gene_variant MELA-AU 12 133434303 133434303 single base substitution A T downstream_gene_variant MELA-AU 12 133434303 133434303 single base substitution A T intron_variant MELA-AU 12 133434303 133434303 single base substitution A T upstream_gene_variant MELA-AU 12 133434991 133434991 single base substitution G A downstream_gene_variant MELA-AU 12 133434991 133434991 single base substitution G A intron_variant MELA-AU 12 133434991 133434991 single base substitution G A upstream_gene_variant MELA-AU 12 133435186 133435186 single base substitution C T downstream_gene_variant MELA-AU 12 133435186 133435186 single base substitution C T intron_variant MELA-AU 12 133435186 133435186 single base substitution C T upstream_gene_variant MELA-AU 12 133435534 133435534 single base substitution C T downstream_gene_variant MELA-AU 12 133435534 133435534 single base substitution C T intron_variant MELA-AU 12 133435534 133435534 single base substitution C T upstream_gene_variant MELA-AU 12 133435716 133435716 single base substitution T G downstream_gene_variant MELA-AU 12 133435716 133435716 single base substitution T G exon_variant MELA-AU 12 133435716 133435716 single base substitution T G synonymous_variant P203P 609A>C MELA-AU 12 133435716 133435716 single base substitution T G synonymous_variant P254P 762A>C MELA-AU 12 133435716 133435716 single base substitution T G synonymous_variant P283P 849A>C MELA-AU 12 133435716 133435716 single base substitution T G synonymous_variant P295P 885A>C MELA-AU 12 133435716 133435716 single base substitution T G upstream_gene_variant MELA-AU 12 133435929 133435929 single base substitution G A downstream_gene_variant MELA-AU 12 133435929 133435929 single base substitution G A intron_variant MELA-AU 12 133435929 133435929 single base substitution G A upstream_gene_variant MELA-AU 12 133436407 133436407 single base substitution C T downstream_gene_variant MELA-AU 12 133436407 133436407 single base substitution C T intron_variant MELA-AU 12 133436407 133436407 single base substitution C T upstream_gene_variant MELA-AU 12 133436473 133436473 single base substitution G A downstream_gene_variant MELA-AU 12 133436473 133436473 single base substitution G A intron_variant MELA-AU 12 133436473 133436473 single base substitution G A upstream_gene_variant MELA-AU 12 133436722 133436722 single base substitution G A downstream_gene_variant MELA-AU 12 133436722 133436722 single base substitution G A intron_variant MELA-AU 12 133436722 133436722 single base substitution G A upstream_gene_variant MELA-AU 12 133437723 133437723 single base substitution G A downstream_gene_variant MELA-AU 12 133437723 133437723 single base substitution G A intron_variant MELA-AU 12 133437723 133437723 single base substitution G A upstream_gene_variant MELA-AU 12 133437773 133437773 single base substitution G A downstream_gene_variant MELA-AU 12 133437773 133437773 single base substitution G A intron_variant MELA-AU 12 133437773 133437773 single base substitution G A upstream_gene_variant MELA-AU 12 133438112 133438112 single base substitution G A downstream_gene_variant MELA-AU 12 133438112 133438112 single base substitution G A exon_variant MELA-AU 12 133438112 133438112 single base substitution G A missense_variant S103L 308C>T MELA-AU 12 133438112 133438112 single base substitution G A missense_variant S151L 452C>T MELA-AU 12 133438112 133438112 single base substitution G A missense_variant S202L 605C>T MELA-AU 12 133438112 133438112 single base substitution G A missense_variant S231L 692C>T MELA-AU 12 133438112 133438112 single base substitution G A missense_variant S243L 728C>T MELA-AU 12 133438112 133438112 single base substitution G A upstream_gene_variant MELA-AU 12 133438515 133438515 single base substitution A G intron_variant MELA-AU 12 133438515 133438515 single base substitution A G upstream_gene_variant MELA-AU 12 133438849 133438849 single base substitution G A intron_variant MELA-AU 12 133438849 133438849 single base substitution G A upstream_gene_variant MELA-AU 12 133438977 133438977 single base substitution T A intron_variant MELA-AU 12 133438977 133438977 single base substitution T A synonymous_variant L146L 438A>T MELA-AU 12 133438977 133438977 single base substitution T A upstream_gene_variant MELA-AU 12 133439301 133439301 single base substitution G A intron_variant MELA-AU 12 133439301 133439301 single base substitution G A upstream_gene_variant MELA-AU 12 133439388 133439388 single base substitution G A intron_variant MELA-AU 12 133439388 133439388 single base substitution G A upstream_gene_variant MELA-AU 12 133439552 133439552 single base substitution G A intron_variant MELA-AU 12 133439552 133439552 single base substitution G A upstream_gene_variant MELA-AU 12 133440847 133440847 single base substitution G A intron_variant MELA-AU 12 133440847 133440847 single base substitution G A upstream_gene_variant MELA-AU 12 133440851 133440851 single base substitution G A intron_variant MELA-AU 12 133440851 133440851 single base substitution G A upstream_gene_variant MELA-AU 12 133441580 133441580 single base substitution G A downstream_gene_variant MELA-AU 12 133441580 133441580 single base substitution G A intron_variant MELA-AU 12 133441580 133441580 single base substitution G A upstream_gene_variant MELA-AU 12 133443162 133443162 single base substitution A T downstream_gene_variant MELA-AU 12 133443162 133443162 single base substitution A T intron_variant MELA-AU 12 133443162 133443162 single base substitution A T upstream_gene_variant MELA-AU 12 133443224 133443241 deletion of <=200bp AATGTTACAACACACCGG - downstream_gene_variant MELA-AU 12 133443224 133443241 deletion of <=200bp AATGTTACAACACACCGG - intron_variant MELA-AU 12 133443224 133443241 deletion of <=200bp AATGTTACAACACACCGG - upstream_gene_variant MELA-AU 12 133443562 133443562 single base substitution G A downstream_gene_variant MELA-AU 12 133443562 133443562 single base substitution G A intron_variant MELA-AU 12 133443743 133443743 single base substitution G A downstream_gene_variant MELA-AU 12 133443743 133443743 single base substitution G A intron_variant MELA-AU 12 133443779 133443779 single base substitution G A downstream_gene_variant MELA-AU 12 133443779 133443779 single base substitution G A intron_variant MELA-AU 12 133444219 133444219 single base substitution G A downstream_gene_variant MELA-AU 12 133444219 133444219 single base substitution G A intron_variant MELA-AU 12 133444412 133444412 single base substitution G A downstream_gene_variant MELA-AU 12 133444412 133444412 single base substitution G A intron_variant MELA-AU 12 133444728 133444728 single base substitution A G downstream_gene_variant MELA-AU 12 133444728 133444728 single base substitution A G intron_variant MELA-AU 12 133445188 133445188 single base substitution C G downstream_gene_variant MELA-AU 12 133445188 133445188 single base substitution C G intron_variant MELA-AU 12 133445192 133445192 single base substitution G A downstream_gene_variant MELA-AU 12 133445192 133445192 single base substitution G A intron_variant MELA-AU 12 133445249 133445249 single base substitution G A downstream_gene_variant MELA-AU 12 133445249 133445249 single base substitution G A intron_variant MELA-AU 12 133446249 133446249 single base substitution G A downstream_gene_variant MELA-AU 12 133446249 133446249 single base substitution G A intron_variant MELA-AU 12 133446249 133446249 single base substitution G A missense_variant S11F 32C>T MELA-AU 12 133446249 133446249 single base substitution G A missense_variant S180F 539C>T MELA-AU 12 133446249 133446249 single base substitution G A missense_variant S192F 575C>T MELA-AU 12 133446249 133446249 single base substitution G A missense_variant S52F 155C>T MELA-AU 12 133446249 133446249 single base substitution G A missense_variant S64F 191C>T MELA-AU 12 133446478 133446478 single base substitution G A downstream_gene_variant MELA-AU 12 133446478 133446478 single base substitution G A intron_variant MELA-AU 12 133447221 133447222 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 133447221 133447222 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 133448340 133448340 single base substitution A G downstream_gene_variant MELA-AU 12 133448340 133448340 single base substitution A G intron_variant MELA-AU 12 133448785 133448785 single base substitution G A exon_variant MELA-AU 12 133448785 133448785 single base substitution G A intron_variant MELA-AU 12 133449019 133449019 single base substitution T A intron_variant MELA-AU 12 133449238 133449238 single base substitution G A downstream_gene_variant MELA-AU 12 133449238 133449238 single base substitution G A intron_variant MELA-AU 12 133449564 133449564 single base substitution G A downstream_gene_variant MELA-AU 12 133449564 133449564 single base substitution G A intron_variant MELA-AU 12 133449955 133449955 single base substitution G A downstream_gene_variant MELA-AU 12 133449955 133449955 single base substitution G A intron_variant MELA-AU 12 133450496 133450496 single base substitution C A downstream_gene_variant MELA-AU 12 133450496 133450496 single base substitution C A intron_variant MELA-AU 12 133451068 133451068 single base substitution G A downstream_gene_variant MELA-AU 12 133451068 133451068 single base substitution G A intron_variant MELA-AU 12 133451081 133451081 single base substitution G A downstream_gene_variant MELA-AU 12 133451081 133451081 single base substitution G A intron_variant MELA-AU 12 133451595 133451595 single base substitution G A downstream_gene_variant MELA-AU 12 133451595 133451595 single base substitution G A intron_variant MELA-AU 12 133451622 133451622 single base substitution G A downstream_gene_variant MELA-AU 12 133451622 133451622 single base substitution G A intron_variant MELA-AU 12 133452612 133452612 single base substitution A T downstream_gene_variant MELA-AU 12 133452612 133452612 single base substitution A T intron_variant MELA-AU 12 133453319 133453319 single base substitution G A downstream_gene_variant MELA-AU 12 133453319 133453319 single base substitution G A intron_variant MELA-AU 12 133453405 133453405 single base substitution G A downstream_gene_variant MELA-AU 12 133453405 133453405 single base substitution G A intron_variant MELA-AU 12 133453467 133453467 single base substitution G A downstream_gene_variant MELA-AU 12 133453467 133453467 single base substitution G A intron_variant MELA-AU 12 133454269 133454269 single base substitution G A intron_variant MELA-AU 12 133455149 133455149 single base substitution G A intron_variant MELA-AU 12 133455614 133455614 single base substitution G A intron_variant MELA-AU 12 133455968 133455968 single base substitution G A intron_variant MELA-AU 12 133456437 133456437 single base substitution G A intron_variant MELA-AU 12 133457018 133457018 single base substitution G A intron_variant MELA-AU 12 133458808 133458808 single base substitution A G intron_variant MELA-AU 12 133459049 133459049 single base substitution G A intron_variant MELA-AU 12 133459938 133459938 single base substitution G A intron_variant MELA-AU 12 133459938 133459938 single base substitution G A upstream_gene_variant MELA-AU 12 133460288 133460288 single base substitution G A intron_variant MELA-AU 12 133460288 133460288 single base substitution G A upstream_gene_variant MELA-AU 12 133460351 133460351 single base substitution C T intron_variant MELA-AU 12 133460351 133460351 single base substitution C T upstream_gene_variant MELA-AU 12 133460475 133460475 single base substitution G A intron_variant MELA-AU 12 133460475 133460475 single base substitution G A upstream_gene_variant MELA-AU 12 133460561 133460561 single base substitution C T intron_variant MELA-AU 12 133460561 133460561 single base substitution C T upstream_gene_variant MELA-AU 12 133461121 133461121 single base substitution A G intron_variant MELA-AU 12 133461121 133461121 single base substitution A G upstream_gene_variant MELA-AU 12 133461293 133461293 single base substitution G A intron_variant MELA-AU 12 133461293 133461293 single base substitution G A upstream_gene_variant MELA-AU 12 133462410 133462410 single base substitution A G intron_variant MELA-AU 12 133462410 133462410 single base substitution A G upstream_gene_variant MELA-AU 12 133464429 133464429 single base substitution C T intron_variant MELA-AU 12 133464429 133464429 single base substitution C T upstream_gene_variant MELA-AU 12 133464441 133464441 single base substitution C G intron_variant MELA-AU 12 133464441 133464441 single base substitution C G upstream_gene_variant MELA-AU 12 133464836 133464836 single base substitution T A intron_variant MELA-AU 12 133464836 133464836 single base substitution T A upstream_gene_variant MELA-AU 12 133464849 133464849 single base substitution G T intron_variant MELA-AU 12 133464849 133464849 single base substitution G T upstream_gene_variant MELA-AU 12 133465210 133465210 single base substitution C T intron_variant MELA-AU 12 133465210 133465210 single base substitution C T upstream_gene_variant MELA-AU 12 133465525 133465525 single base substitution C T intron_variant MELA-AU 12 133465525 133465525 single base substitution C T upstream_gene_variant MELA-AU 12 133465619 133465619 single base substitution G A intron_variant MELA-AU 12 133465619 133465619 single base substitution G A upstream_gene_variant MELA-AU 12 133465998 133465998 single base substitution C T intron_variant MELA-AU 12 133465998 133465998 single base substitution C T upstream_gene_variant MELA-AU 12 133466015 133466016 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 133466015 133466016 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 133466399 133466399 single base substitution C T intron_variant MELA-AU 12 133466399 133466399 single base substitution C T upstream_gene_variant MELA-AU 12 133466531 133466531 single base substitution C T intron_variant MELA-AU 12 133466531 133466531 single base substitution C T upstream_gene_variant MELA-AU 12 133466760 133466760 single base substitution C T intron_variant MELA-AU 12 133466760 133466760 single base substitution C T upstream_gene_variant MELA-AU 12 133467020 133467020 single base substitution T A intron_variant MELA-AU 12 133467020 133467020 single base substitution T A upstream_gene_variant MELA-AU 12 133467139 133467139 single base substitution G A intron_variant MELA-AU 12 133467139 133467139 single base substitution G A upstream_gene_variant MELA-AU 12 133467666 133467666 single base substitution C T intron_variant MELA-AU 12 133467666 133467666 single base substitution C T upstream_gene_variant MELA-AU 12 133467827 133467827 single base substitution C T intron_variant MELA-AU 12 133467827 133467827 single base substitution C T upstream_gene_variant MELA-AU 12 133468018 133468018 single base substitution G A intron_variant MELA-AU 12 133468018 133468018 single base substitution G A upstream_gene_variant MELA-AU 12 133468294 133468294 single base substitution C T intron_variant MELA-AU 12 133468294 133468294 single base substitution C T upstream_gene_variant MELA-AU 12 133468804 133468804 single base substitution C T intron_variant MELA-AU 12 133468804 133468804 single base substitution C T upstream_gene_variant MELA-AU 12 133468874 133468874 single base substitution G A intron_variant MELA-AU 12 133468874 133468874 single base substitution G A upstream_gene_variant MELA-AU 12 133469842 133469842 single base substitution C T intron_variant MELA-AU 12 133469849 133469849 single base substitution C T intron_variant MELA-AU 12 133470274 133470274 single base substitution G A intron_variant MELA-AU 12 133470605 133470605 single base substitution C T intron_variant MELA-AU 12 133470685 133470685 single base substitution C T intron_variant MELA-AU 12 133470782 133470782 single base substitution G A intron_variant MELA-AU 12 133470894 133470894 single base substitution C T intron_variant MELA-AU 12 133471048 133471048 single base substitution C T intron_variant MELA-AU 12 133471060 133471060 single base substitution C T intron_variant MELA-AU 12 133471370 133471370 single base substitution A C intron_variant MELA-AU 12 133471391 133471391 single base substitution C T intron_variant MELA-AU 12 133471432 133471432 single base substitution G T intron_variant MELA-AU 12 133471642 133471642 single base substitution T A intron_variant MELA-AU 12 133471881 133471881 single base substitution C T intron_variant MELA-AU 12 133471953 133471953 single base substitution C T intron_variant MELA-AU 12 133471966 133471966 single base substitution C T intron_variant MELA-AU 12 133472287 133472287 single base substitution C T intron_variant MELA-AU 12 133472842 133472842 single base substitution C T intron_variant MELA-AU 12 133472930 133472930 single base substitution C T intron_variant MELA-AU 12 133473197 133473197 single base substitution G A intron_variant MELA-AU 12 133473445 133473445 single base substitution T G intron_variant MELA-AU 12 133473450 133473450 single base substitution C T intron_variant MELA-AU 12 133473567 133473567 single base substitution C T intron_variant MELA-AU 12 133474159 133474159 single base substitution A C intron_variant MELA-AU 12 133474248 133474248 single base substitution C T intron_variant MELA-AU 12 133474624 133474624 single base substitution G A intron_variant MELA-AU 12 133474784 133474784 single base substitution G A intron_variant MELA-AU 12 133475084 133475084 single base substitution G A intron_variant MELA-AU 12 133475178 133475178 single base substitution T G intron_variant MELA-AU 12 133475509 133475509 single base substitution C T intron_variant MELA-AU 12 133475516 133475516 single base substitution G A intron_variant MELA-AU 12 133475526 133475526 single base substitution G A intron_variant MELA-AU 12 133475535 133475535 single base substitution G A intron_variant MELA-AU 12 133475554 133475554 single base substitution G A intron_variant MELA-AU 12 133475722 133475722 single base substitution T C 5_prime_UTR_variant MELA-AU 12 133475722 133475722 single base substitution T C intron_variant MELA-AU 12 133476646 133476646 single base substitution C T intron_variant MELA-AU 12 133476716 133476716 single base substitution G A intron_variant MELA-AU 12 133476731 133476731 single base substitution A C intron_variant MELA-AU 12 133476838 133476838 single base substitution G A intron_variant MELA-AU 12 133476964 133476964 single base substitution G A intron_variant MELA-AU 12 133478269 133478269 single base substitution G A intron_variant MELA-AU 12 133478636 133478636 single base substitution G A intron_variant MELA-AU 12 133478827 133478827 single base substitution C T intron_variant MELA-AU 12 133479868 133479868 single base substitution G A intron_variant MELA-AU 12 133481073 133481073 single base substitution G A intron_variant MELA-AU 12 133481250 133481250 single base substitution T A intron_variant MELA-AU 12 133481539 133481539 single base substitution G A intron_variant MELA-AU 12 133481539 133481539 single base substitution G A upstream_gene_variant MELA-AU 12 133481655 133481655 single base substitution C T intron_variant MELA-AU 12 133481655 133481655 single base substitution C T upstream_gene_variant MELA-AU 12 133481733 133481733 single base substitution G A intron_variant MELA-AU 12 133481733 133481733 single base substitution G A upstream_gene_variant MELA-AU 12 133481821 133481821 single base substitution A T intron_variant MELA-AU 12 133481821 133481821 single base substitution A T upstream_gene_variant MELA-AU 12 133481919 133481919 single base substitution G A intron_variant MELA-AU 12 133481919 133481919 single base substitution G A upstream_gene_variant MELA-AU 12 133482069 133482069 single base substitution G A intron_variant MELA-AU 12 133482069 133482069 single base substitution G A upstream_gene_variant MELA-AU 12 133482336 133482336 single base substitution C T intron_variant MELA-AU 12 133482336 133482336 single base substitution C T upstream_gene_variant MELA-AU 12 133482345 133482345 single base substitution T C intron_variant MELA-AU 12 133482345 133482345 single base substitution T C upstream_gene_variant MELA-AU 12 133483121 133483121 single base substitution G A intron_variant MELA-AU 12 133483121 133483121 single base substitution G A upstream_gene_variant MELA-AU 12 133483123 133483123 single base substitution G A intron_variant MELA-AU 12 133483123 133483123 single base substitution G A upstream_gene_variant MELA-AU 12 133483488 133483488 single base substitution T G intron_variant MELA-AU 12 133483488 133483488 single base substitution T G upstream_gene_variant MELA-AU 12 133483923 133483923 single base substitution A G intron_variant MELA-AU 12 133483923 133483923 single base substitution A G upstream_gene_variant MELA-AU 12 133484343 133484343 single base substitution G A intron_variant MELA-AU 12 133484343 133484343 single base substitution G A upstream_gene_variant MELA-AU 12 133485184 133485184 single base substitution C T intron_variant MELA-AU 12 133485184 133485184 single base substitution C T upstream_gene_variant MELA-AU 12 133485342 133485342 single base substitution G C intron_variant MELA-AU 12 133485342 133485342 single base substitution G C upstream_gene_variant MELA-AU 12 133485803 133485803 single base substitution G A intron_variant MELA-AU 12 133485803 133485803 single base substitution G A upstream_gene_variant MELA-AU 12 133486388 133486388 single base substitution G A intron_variant MELA-AU 12 133486388 133486388 single base substitution G A upstream_gene_variant MELA-AU 12 133486832 133486833 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 133486832 133486833 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 12 133487035 133487035 single base substitution G A intron_variant MELA-AU 12 133487035 133487035 single base substitution G A upstream_gene_variant MELA-AU 12 133487186 133487186 single base substitution C T intron_variant MELA-AU 12 133487186 133487186 single base substitution C T upstream_gene_variant MELA-AU 12 133487287 133487287 single base substitution A G intron_variant MELA-AU 12 133487287 133487287 single base substitution A G upstream_gene_variant MELA-AU 12 133487431 133487431 single base substitution C T intron_variant MELA-AU 12 133487431 133487431 single base substitution C T upstream_gene_variant MELA-AU 12 133487535 133487535 single base substitution G A intron_variant MELA-AU 12 133487535 133487535 single base substitution G A upstream_gene_variant MELA-AU 12 133487560 133487560 single base substitution T C intron_variant MELA-AU 12 133487560 133487560 single base substitution T C upstream_gene_variant MELA-AU 12 133487927 133487927 single base substitution C T intron_variant MELA-AU 12 133487927 133487927 single base substitution C T upstream_gene_variant MELA-AU 12 133488403 133488403 single base substitution G A intron_variant MELA-AU 12 133488403 133488403 single base substitution G A upstream_gene_variant MELA-AU 12 133490087 133490087 single base substitution C T intron_variant MELA-AU 12 133490087 133490087 single base substitution C T upstream_gene_variant MELA-AU 12 133490641 133490641 single base substitution G A intron_variant MELA-AU 12 133490641 133490641 single base substitution G A upstream_gene_variant MELA-AU 12 133490901 133490901 single base substitution T C intron_variant MELA-AU 12 133491651 133491651 single base substitution G A intron_variant MELA-AU 12 133491809 133491809 single base substitution C T intron_variant MELA-AU 12 133492155 133492155 single base substitution C T intron_variant MELA-AU 12 133492240 133492240 single base substitution C T intron_variant MELA-AU 12 133492308 133492308 single base substitution G A intron_variant MELA-AU 12 133492331 133492331 single base substitution G A intron_variant MELA-AU 12 133492378 133492378 single base substitution G A intron_variant MELA-AU 12 133492435 133492435 single base substitution G A intron_variant MELA-AU 12 133493311 133493311 single base substitution C T intron_variant MELA-AU 12 133494350 133494350 single base substitution C T intron_variant MELA-AU 12 133494876 133494876 single base substitution A T intron_variant MELA-AU 12 133494883 133494883 single base substitution G A intron_variant MELA-AU 12 133495422 133495422 single base substitution T C intron_variant MELA-AU 12 133496946 133496946 single base substitution C T intron_variant MELA-AU 12 133496947 133496947 single base substitution G A intron_variant MELA-AU 12 133497665 133497665 single base substitution G T intron_variant MELA-AU 12 133497802 133497802 single base substitution C T intron_variant MELA-AU 12 133497980 133497981 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 133498048 133498049 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 133498096 133498096 single base substitution G A intron_variant MELA-AU 12 133498318 133498318 single base substitution G A intron_variant MELA-AU 12 133498599 133498599 single base substitution G A intron_variant MELA-AU 12 133498922 133498922 single base substitution G A intron_variant MELA-AU 12 133499440 133499440 single base substitution G A intron_variant MELA-AU 12 133499533 133499533 single base substitution G A intron_variant MELA-AU 12 133499574 133499574 single base substitution G A intron_variant MELA-AU 12 133500084 133500084 single base substitution G A intron_variant MELA-AU 12 133500876 133500876 single base substitution G A intron_variant MELA-AU 12 133501357 133501357 single base substitution G A intron_variant MELA-AU 12 133501605 133501605 single base substitution C T intron_variant MELA-AU 12 133502291 133502291 single base substitution G A intron_variant MELA-AU 12 133502306 133502306 single base substitution G A intron_variant MELA-AU 12 133503977 133503977 single base substitution G A intron_variant MELA-AU 12 133516641 133516641 single base substitution G A intron_variant ORCA-IN 12 133414791 133414791 single base substitution C A downstream_gene_variant ORCA-IN 12 133414791 133414791 single base substitution C A intron_variant ORCA-IN 12 133419601 133419601 single base substitution C T exon_variant ORCA-IN 12 133419601 133419601 single base substitution C T missense_variant A272T 814G>A ORCA-IN 12 133419601 133419601 single base substitution C T missense_variant A558T 1672G>A ORCA-IN 12 133419601 133419601 single base substitution C T missense_variant A609T 1825G>A ORCA-IN 12 133419601 133419601 single base substitution C T missense_variant A638T 1912G>A ORCA-IN 12 133419601 133419601 single base substitution C T missense_variant A649T 1945G>A ORCA-IN 12 133419601 133419601 single base substitution C T missense_variant A650T 1948G>A ORCA-IN 12 133419601 133419601 single base substitution C T missense_variant A77T 229G>A ORCA-IN 12 133428224 133428224 single base substitution G T downstream_gene_variant ORCA-IN 12 133428224 133428224 single base substitution G T exon_variant ORCA-IN 12 133428224 133428224 single base substitution G T intron_variant ORCA-IN 12 133428224 133428224 single base substitution G T missense_variant P125Q 374C>A ORCA-IN 12 133428224 133428224 single base substitution G T missense_variant P411Q 1232C>A ORCA-IN 12 133428224 133428224 single base substitution G T missense_variant P462Q 1385C>A ORCA-IN 12 133428224 133428224 single base substitution G T missense_variant P491Q 1472C>A ORCA-IN 12 133428224 133428224 single base substitution G T missense_variant P502Q 1505C>A ORCA-IN 12 133428224 133428224 single base substitution G T missense_variant P503Q 1508C>A ORCA-IN 12 133428224 133428224 single base substitution G T upstream_gene_variant ORCA-IN 12 133430083 133430083 single base substitution C T downstream_gene_variant ORCA-IN 12 133430083 133430083 single base substitution C T exon_variant ORCA-IN 12 133430083 133430083 single base substitution C T intron_variant ORCA-IN 12 133430083 133430083 single base substitution C T missense_variant E356K 1066G>A ORCA-IN 12 133430083 133430083 single base substitution C T missense_variant E407K 1219G>A ORCA-IN 12 133430083 133430083 single base substitution C T missense_variant E436K 1306G>A ORCA-IN 12 133430083 133430083 single base substitution C T missense_variant E448K 1342G>A ORCA-IN 12 133430083 133430083 single base substitution C T missense_variant E70K 208G>A ORCA-IN 12 133430083 133430083 single base substitution C T upstream_gene_variant ORCA-IN 12 133440774 133440774 deletion of <=200bp C - intron_variant ORCA-IN 12 133440774 133440774 deletion of <=200bp C - upstream_gene_variant ORCA-IN 12 133455418 133455419 deletion of <=200bp AG - intron_variant ORCA-IN 12 133494082 133494082 single base substitution G A intron_variant OV-AU 12 133396618 133396618 single base substitution C T downstream_gene_variant OV-AU 12 133404182 133404182 single base substitution G C intron_variant OV-AU 12 133410436 133410436 single base substitution C T intron_variant OV-AU 12 133410440 133410440 single base substitution C T intron_variant OV-AU 12 133410607 133410607 single base substitution C A intron_variant OV-AU 12 133410848 133410848 single base substitution C T intron_variant OV-AU 12 133410947 133410947 single base substitution C T intron_variant OV-AU 12 133410948 133410948 single base substitution C A intron_variant OV-AU 12 133410952 133410952 single base substitution C G intron_variant OV-AU 12 133411106 133411106 single base substitution G A intron_variant OV-AU 12 133412449 133412449 single base substitution T C downstream_gene_variant OV-AU 12 133412449 133412449 single base substitution T C intron_variant OV-AU 12 133420372 133420372 single base substitution T G downstream_gene_variant OV-AU 12 133420372 133420372 single base substitution T G intron_variant OV-AU 12 133421852 133421852 single base substitution C T downstream_gene_variant OV-AU 12 133421852 133421852 single base substitution C T intron_variant OV-AU 12 133427129 133427129 single base substitution C G downstream_gene_variant OV-AU 12 133427129 133427129 single base substitution C G intron_variant OV-AU 12 133427129 133427129 single base substitution C G upstream_gene_variant OV-AU 12 133435239 133435239 single base substitution G A downstream_gene_variant OV-AU 12 133435239 133435239 single base substitution G A intron_variant OV-AU 12 133435239 133435239 single base substitution G A upstream_gene_variant OV-AU 12 133437251 133437251 single base substitution G T downstream_gene_variant OV-AU 12 133437251 133437251 single base substitution G T intron_variant OV-AU 12 133437251 133437251 single base substitution G T upstream_gene_variant OV-AU 12 133448687 133448687 single base substitution T G exon_variant OV-AU 12 133448687 133448687 single base substitution T G intron_variant OV-AU 12 133451201 133451201 single base substitution T G downstream_gene_variant OV-AU 12 133451201 133451201 single base substitution T G intron_variant OV-AU 12 133453400 133453400 single base substitution G C downstream_gene_variant OV-AU 12 133453400 133453400 single base substitution G C intron_variant OV-AU 12 133456602 133456602 single base substitution C G intron_variant OV-AU 12 133459735 133459735 single base substitution T C intron_variant OV-AU 12 133459735 133459735 single base substitution T C upstream_gene_variant OV-AU 12 133464495 133464495 single base substitution A G intron_variant OV-AU 12 133464495 133464495 single base substitution A G upstream_gene_variant OV-AU 12 133467299 133467299 single base substitution T A intron_variant OV-AU 12 133467299 133467299 single base substitution T A upstream_gene_variant OV-AU 12 133472881 133472881 single base substitution T A intron_variant OV-AU 12 133477175 133477175 single base substitution G A intron_variant OV-AU 12 133488414 133488414 single base substitution C G intron_variant OV-AU 12 133488414 133488414 single base substitution C G upstream_gene_variant OV-AU 12 133491346 133491346 single base substitution A G intron_variant OV-AU 12 133493618 133493618 single base substitution T A intron_variant PACA-AU 12 133394890 133394890 single base substitution G A downstream_gene_variant PACA-AU 12 133397991 133397991 single base substitution G A downstream_gene_variant PACA-AU 12 133405596 133405596 single base substitution C G intron_variant PACA-AU 12 133411426 133411426 single base substitution C T intron_variant PACA-AU 12 133415473 133415473 single base substitution A T downstream_gene_variant PACA-AU 12 133415473 133415473 single base substitution A T intron_variant PACA-AU 12 133417358 133417358 single base substitution G A 3_prime_UTR_variant PACA-AU 12 133417358 133417358 single base substitution G A downstream_gene_variant PACA-AU 12 133417358 133417358 single base substitution G A exon_variant PACA-AU 12 133417358 133417358 single base substitution G A intron_variant PACA-AU 12 133417425 133417425 single base substitution C T 3_prime_UTR_variant PACA-AU 12 133417425 133417425 single base substitution C T downstream_gene_variant PACA-AU 12 133417425 133417425 single base substitution C T exon_variant PACA-AU 12 133417425 133417425 single base substitution C T intron_variant PACA-AU 12 133425347 133425347 single base substitution C A downstream_gene_variant PACA-AU 12 133425347 133425347 single base substitution C A exon_variant PACA-AU 12 133425347 133425347 single base substitution C A intron_variant PACA-AU 12 133425347 133425347 single base substitution C A upstream_gene_variant PACA-AU 12 133425777 133425777 single base substitution C T downstream_gene_variant PACA-AU 12 133425777 133425777 single base substitution C T exon_variant PACA-AU 12 133425777 133425777 single base substitution C T intron_variant PACA-AU 12 133425777 133425777 single base substitution C T upstream_gene_variant PACA-AU 12 133427374 133427389 deletion of <=200bp GCTCAACAGGGCTAGG - downstream_gene_variant PACA-AU 12 133427374 133427389 deletion of <=200bp GCTCAACAGGGCTAGG - intron_variant PACA-AU 12 133427374 133427389 deletion of <=200bp GCTCAACAGGGCTAGG - upstream_gene_variant PACA-AU 12 133427976 133427976 single base substitution C A downstream_gene_variant PACA-AU 12 133427976 133427976 single base substitution C A intron_variant PACA-AU 12 133427976 133427976 single base substitution C A upstream_gene_variant PACA-AU 12 133427977 133427977 single base substitution C A downstream_gene_variant PACA-AU 12 133427977 133427977 single base substitution C A intron_variant PACA-AU 12 133427977 133427977 single base substitution C A upstream_gene_variant PACA-AU 12 133428234 133428234 single base substitution C T downstream_gene_variant PACA-AU 12 133428234 133428234 single base substitution C T exon_variant PACA-AU 12 133428234 133428234 single base substitution C T intron_variant PACA-AU 12 133428234 133428234 single base substitution C T missense_variant E122K 364G>A PACA-AU 12 133428234 133428234 single base substitution C T missense_variant E408K 1222G>A PACA-AU 12 133428234 133428234 single base substitution C T missense_variant E459K 1375G>A PACA-AU 12 133428234 133428234 single base substitution C T missense_variant E488K 1462G>A PACA-AU 12 133428234 133428234 single base substitution C T missense_variant E499K 1495G>A PACA-AU 12 133428234 133428234 single base substitution C T missense_variant E500K 1498G>A PACA-AU 12 133428234 133428234 single base substitution C T upstream_gene_variant PACA-AU 12 133433429 133433429 single base substitution C T downstream_gene_variant PACA-AU 12 133433429 133433429 single base substitution C T intron_variant PACA-AU 12 133433429 133433429 single base substitution C T upstream_gene_variant PACA-AU 12 133433911 133433911 single base substitution T G downstream_gene_variant PACA-AU 12 133433911 133433911 single base substitution T G intron_variant PACA-AU 12 133433911 133433911 single base substitution T G upstream_gene_variant PACA-AU 12 133434740 133434740 single base substitution C T downstream_gene_variant PACA-AU 12 133434740 133434740 single base substitution C T intron_variant PACA-AU 12 133434740 133434740 single base substitution C T upstream_gene_variant PACA-AU 12 133435599 133435599 single base substitution G A downstream_gene_variant PACA-AU 12 133435599 133435599 single base substitution G A intron_variant PACA-AU 12 133435599 133435599 single base substitution G A upstream_gene_variant PACA-AU 12 133438108 133438108 single base substitution C T downstream_gene_variant PACA-AU 12 133438108 133438108 single base substitution C T exon_variant PACA-AU 12 133438108 133438108 single base substitution C T synonymous_variant S104S 312G>A PACA-AU 12 133438108 133438108 single base substitution C T synonymous_variant S152S 456G>A PACA-AU 12 133438108 133438108 single base substitution C T synonymous_variant S203S 609G>A PACA-AU 12 133438108 133438108 single base substitution C T synonymous_variant S232S 696G>A PACA-AU 12 133438108 133438108 single base substitution C T synonymous_variant S244S 732G>A PACA-AU 12 133438108 133438108 single base substitution C T upstream_gene_variant PACA-AU 12 133443714 133443714 single base substitution C G downstream_gene_variant PACA-AU 12 133443714 133443714 single base substitution C G intron_variant PACA-AU 12 133451240 133451240 single base substitution G A downstream_gene_variant PACA-AU 12 133451240 133451240 single base substitution G A intron_variant PACA-AU 12 133451254 133451254 single base substitution T G downstream_gene_variant PACA-AU 12 133451254 133451254 single base substitution T G intron_variant PACA-AU 12 133459943 133459943 single base substitution C T intron_variant PACA-AU 12 133459943 133459943 single base substitution C T upstream_gene_variant PACA-AU 12 133461438 133461438 single base substitution C T intron_variant PACA-AU 12 133461438 133461438 single base substitution C T upstream_gene_variant PACA-AU 12 133463389 133463389 single base substitution G A intron_variant PACA-AU 12 133463389 133463389 single base substitution G A upstream_gene_variant PACA-AU 12 133466478 133466478 single base substitution G A intron_variant PACA-AU 12 133466478 133466478 single base substitution G A upstream_gene_variant PACA-AU 12 133474907 133474907 single base substitution G C intron_variant PACA-AU 12 133478039 133478039 single base substitution C T intron_variant PACA-AU 12 133478267 133478267 single base substitution G A intron_variant PACA-AU 12 133478418 133478418 single base substitution C T intron_variant PACA-AU 12 133481412 133481412 single base substitution G A 5_prime_UTR_variant PACA-AU 12 133481412 133481412 single base substitution G A intron_variant PACA-AU 12 133482198 133482198 single base substitution C T intron_variant PACA-AU 12 133482198 133482198 single base substitution C T upstream_gene_variant PACA-AU 12 133490619 133490619 single base substitution C G intron_variant PACA-AU 12 133490619 133490619 single base substitution C G upstream_gene_variant PACA-AU 12 133495686 133495686 single base substitution C G intron_variant PACA-AU 12 133499542 133499542 single base substitution C A intron_variant PACA-CA 12 133393876 133393876 single base substitution T A downstream_gene_variant PACA-CA 12 133394675 133394675 single base substitution G A downstream_gene_variant PACA-CA 12 133397344 133397344 single base substitution C T downstream_gene_variant PACA-CA 12 133399453 133399453 single base substitution A G intron_variant PACA-CA 12 133402309 133402309 single base substitution G A intron_variant PACA-CA 12 133407262 133407262 single base substitution G A intron_variant PACA-CA 12 133408481 133408481 single base substitution G A intron_variant PACA-CA 12 133412928 133412928 single base substitution C A downstream_gene_variant PACA-CA 12 133412928 133412928 single base substitution C A intron_variant PACA-CA 12 133412993 133412993 single base substitution T A downstream_gene_variant PACA-CA 12 133412993 133412993 single base substitution T A intron_variant PACA-CA 12 133417166 133417166 single base substitution A T 3_prime_UTR_variant PACA-CA 12 133417166 133417166 single base substitution A T downstream_gene_variant PACA-CA 12 133417166 133417166 single base substitution A T exon_variant PACA-CA 12 133417166 133417166 single base substitution A T intron_variant PACA-CA 12 133420067 133420067 single base substitution A C downstream_gene_variant PACA-CA 12 133420067 133420067 single base substitution A C intron_variant PACA-CA 12 133424365 133424365 single base substitution G A downstream_gene_variant PACA-CA 12 133424365 133424365 single base substitution G A exon_variant PACA-CA 12 133424365 133424365 single base substitution G A intron_variant PACA-CA 12 133424593 133424593 single base substitution A T downstream_gene_variant PACA-CA 12 133424593 133424593 single base substitution A T intron_variant PACA-CA 12 133424593 133424593 single base substitution A T upstream_gene_variant PACA-CA 12 133425042 133425042 single base substitution G A exon_variant PACA-CA 12 133425042 133425042 single base substitution G A intron_variant PACA-CA 12 133425042 133425042 single base substitution G A upstream_gene_variant PACA-CA 12 133425269 133425269 single base substitution A G downstream_gene_variant PACA-CA 12 133425269 133425269 single base substitution A G exon_variant PACA-CA 12 133425269 133425269 single base substitution A G missense_variant C146R 436T>C PACA-CA 12 133425269 133425269 single base substitution A G missense_variant C432R 1294T>C PACA-CA 12 133425269 133425269 single base substitution A G missense_variant C483R 1447T>C PACA-CA 12 133425269 133425269 single base substitution A G missense_variant C512R 1534T>C PACA-CA 12 133425269 133425269 single base substitution A G missense_variant C523R 1567T>C PACA-CA 12 133425269 133425269 single base substitution A G missense_variant C524R 1570T>C PACA-CA 12 133425269 133425269 single base substitution A G upstream_gene_variant PACA-CA 12 133425496 133425496 single base substitution G T downstream_gene_variant PACA-CA 12 133425496 133425496 single base substitution G T exon_variant PACA-CA 12 133425496 133425496 single base substitution G T intron_variant PACA-CA 12 133425496 133425496 single base substitution G T upstream_gene_variant PACA-CA 12 133426418 133426418 single base substitution C T downstream_gene_variant PACA-CA 12 133426418 133426418 single base substitution C T exon_variant PACA-CA 12 133426418 133426418 single base substitution C T intron_variant PACA-CA 12 133426418 133426418 single base substitution C T upstream_gene_variant PACA-CA 12 133429770 133429770 single base substitution G A downstream_gene_variant PACA-CA 12 133429770 133429770 single base substitution G A intron_variant PACA-CA 12 133429770 133429770 single base substitution G A upstream_gene_variant PACA-CA 12 133432027 133432027 single base substitution C T downstream_gene_variant PACA-CA 12 133432027 133432027 single base substitution C T intron_variant PACA-CA 12 133432027 133432027 single base substitution C T upstream_gene_variant PACA-CA 12 133433656 133433656 single base substitution C A downstream_gene_variant PACA-CA 12 133433656 133433656 single base substitution C A intron_variant PACA-CA 12 133433656 133433656 single base substitution C A upstream_gene_variant PACA-CA 12 133433893 133433893 single base substitution T C downstream_gene_variant PACA-CA 12 133433893 133433893 single base substitution T C intron_variant PACA-CA 12 133433893 133433893 single base substitution T C upstream_gene_variant PACA-CA 12 133436316 133436316 single base substitution C A downstream_gene_variant PACA-CA 12 133436316 133436316 single base substitution C A intron_variant PACA-CA 12 133436316 133436316 single base substitution C A upstream_gene_variant PACA-CA 12 133439543 133439543 single base substitution C T intron_variant PACA-CA 12 133439543 133439543 single base substitution C T upstream_gene_variant PACA-CA 12 133441689 133441689 single base substitution C T downstream_gene_variant PACA-CA 12 133441689 133441689 single base substitution C T intron_variant PACA-CA 12 133441689 133441689 single base substitution C T upstream_gene_variant PACA-CA 12 133443698 133443698 single base substitution G A downstream_gene_variant PACA-CA 12 133443698 133443698 single base substitution G A intron_variant PACA-CA 12 133447078 133447078 single base substitution C G downstream_gene_variant PACA-CA 12 133447078 133447078 single base substitution C G intron_variant PACA-CA 12 133448033 133448033 single base substitution A G downstream_gene_variant PACA-CA 12 133448033 133448033 single base substitution A G intron_variant PACA-CA 12 133448724 133448724 single base substitution C T exon_variant PACA-CA 12 133448724 133448724 single base substitution C T intron_variant PACA-CA 12 133449397 133449397 single base substitution T G downstream_gene_variant PACA-CA 12 133449397 133449397 single base substitution T G intron_variant PACA-CA 12 133450234 133450234 single base substitution G A downstream_gene_variant PACA-CA 12 133450234 133450234 single base substitution G A intron_variant PACA-CA 12 133450780 133450780 insertion of <=200bp - T downstream_gene_variant PACA-CA 12 133450780 133450780 insertion of <=200bp - T intron_variant PACA-CA 12 133451024 133451024 single base substitution T C downstream_gene_variant PACA-CA 12 133451024 133451024 single base substitution T C intron_variant PACA-CA 12 133451223 133451223 single base substitution C T downstream_gene_variant PACA-CA 12 133451223 133451223 single base substitution C T intron_variant PACA-CA 12 133451225 133451225 single base substitution G A downstream_gene_variant PACA-CA 12 133451225 133451225 single base substitution G A intron_variant PACA-CA 12 133451227 133451227 single base substitution G A downstream_gene_variant PACA-CA 12 133451227 133451227 single base substitution G A intron_variant PACA-CA 12 133451278 133451278 single base substitution A G downstream_gene_variant PACA-CA 12 133451278 133451278 single base substitution A G intron_variant PACA-CA 12 133451302 133451302 single base substitution A G downstream_gene_variant PACA-CA 12 133451302 133451302 single base substitution A G intron_variant PACA-CA 12 133451541 133451541 single base substitution C T downstream_gene_variant PACA-CA 12 133451541 133451541 single base substitution C T intron_variant PACA-CA 12 133453714 133453714 single base substitution C T downstream_gene_variant PACA-CA 12 133453714 133453714 single base substitution C T intron_variant PACA-CA 12 133459271 133459271 single base substitution G A intron_variant PACA-CA 12 133460622 133460622 single base substitution C T intron_variant PACA-CA 12 133460622 133460622 single base substitution C T upstream_gene_variant PACA-CA 12 133465293 133465293 single base substitution C G intron_variant PACA-CA 12 133465293 133465293 single base substitution C G upstream_gene_variant PACA-CA 12 133466163 133466163 single base substitution G A intron_variant PACA-CA 12 133466163 133466163 single base substitution G A upstream_gene_variant PACA-CA 12 133466536 133466536 single base substitution C G intron_variant PACA-CA 12 133466536 133466536 single base substitution C G upstream_gene_variant PACA-CA 12 133469239 133469239 single base substitution T C intron_variant PACA-CA 12 133469296 133469296 single base substitution C T intron_variant PACA-CA 12 133469453 133469453 single base substitution A T intron_variant PACA-CA 12 133471050 133471050 single base substitution G A intron_variant PACA-CA 12 133471505 133471505 single base substitution T C intron_variant PACA-CA 12 133472495 133472495 single base substitution G A intron_variant PACA-CA 12 133474121 133474121 single base substitution C G intron_variant PACA-CA 12 133474372 133474372 single base substitution G A intron_variant PACA-CA 12 133474564 133474564 single base substitution A T intron_variant PACA-CA 12 133477402 133477402 single base substitution C T intron_variant PACA-CA 12 133477628 133477628 deletion of <=200bp A - intron_variant PACA-CA 12 133477825 133477825 single base substitution A G intron_variant PACA-CA 12 133477892 133477892 single base substitution G A intron_variant PACA-CA 12 133478900 133478900 single base substitution C A intron_variant PACA-CA 12 133481570 133481570 single base substitution C T intron_variant PACA-CA 12 133481570 133481570 single base substitution C T upstream_gene_variant PACA-CA 12 133482815 133482815 single base substitution C G intron_variant PACA-CA 12 133482815 133482815 single base substitution C G upstream_gene_variant PACA-CA 12 133483543 133483543 single base substitution C A intron_variant PACA-CA 12 133483543 133483543 single base substitution C A upstream_gene_variant PACA-CA 12 133484027 133484027 single base substitution G A intron_variant PACA-CA 12 133484027 133484027 single base substitution G A upstream_gene_variant PACA-CA 12 133485024 133485024 single base substitution G A intron_variant PACA-CA 12 133485024 133485024 single base substitution G A upstream_gene_variant PACA-CA 12 133485025 133485025 single base substitution C T intron_variant PACA-CA 12 133485025 133485025 single base substitution C T upstream_gene_variant PACA-CA 12 133486698 133486698 single base substitution G A intron_variant PACA-CA 12 133486698 133486698 single base substitution G A upstream_gene_variant PACA-CA 12 133487736 133487736 single base substitution C T intron_variant PACA-CA 12 133487736 133487736 single base substitution C T upstream_gene_variant PACA-CA 12 133491672 133491672 single base substitution T C intron_variant PACA-CA 12 133492671 133492671 single base substitution C T intron_variant PACA-CA 12 133495776 133495776 insertion of <=200bp - T intron_variant PACA-CA 12 133496870 133496870 single base substitution C A intron_variant PACA-CA 12 133498357 133498357 single base substitution C T intron_variant PACA-CA 12 133516380 133516380 single base substitution G A intron_variant PAEN-AU 12 133393810 133393810 single base substitution A C downstream_gene_variant PAEN-AU 12 133394625 133394625 single base substitution A C downstream_gene_variant PAEN-AU 12 133394667 133394667 single base substitution A C downstream_gene_variant PAEN-AU 12 133400199 133400199 single base substitution C A intron_variant PAEN-AU 12 133405309 133405309 single base substitution T C intron_variant PAEN-AU 12 133412958 133412958 single base substitution A T downstream_gene_variant PAEN-AU 12 133412958 133412958 single base substitution A T intron_variant PAEN-AU 12 133419635 133419635 single base substitution G A exon_variant PAEN-AU 12 133419635 133419635 single base substitution G A synonymous_variant G260G 780C>T PAEN-AU 12 133419635 133419635 single base substitution G A synonymous_variant G546G 1638C>T PAEN-AU 12 133419635 133419635 single base substitution G A synonymous_variant G597G 1791C>T PAEN-AU 12 133419635 133419635 single base substitution G A synonymous_variant G626G 1878C>T PAEN-AU 12 133419635 133419635 single base substitution G A synonymous_variant G637G 1911C>T PAEN-AU 12 133419635 133419635 single base substitution G A synonymous_variant G638G 1914C>T PAEN-AU 12 133419635 133419635 single base substitution G A synonymous_variant G65G 195C>T PAEN-AU 12 133438664 133438664 single base substitution G C intron_variant PAEN-AU 12 133438664 133438664 single base substitution G C upstream_gene_variant PAEN-IT 12 133483271 133483271 single base substitution G A intron_variant PAEN-IT 12 133483271 133483271 single base substitution G A upstream_gene_variant PBCA-DE 12 133393832 133393832 single base substitution C T downstream_gene_variant PBCA-DE 12 133394195 133394195 single base substitution T C downstream_gene_variant PBCA-DE 12 133402805 133402805 single base substitution T A intron_variant PBCA-DE 12 133408648 133408648 single base substitution G A intron_variant PBCA-DE 12 133417311 133417311 single base substitution C G 3_prime_UTR_variant PBCA-DE 12 133417311 133417311 single base substitution C G downstream_gene_variant PBCA-DE 12 133417311 133417311 single base substitution C G exon_variant PBCA-DE 12 133417311 133417311 single base substitution C G intron_variant PBCA-DE 12 133421038 133421038 deletion of <=200bp T - downstream_gene_variant PBCA-DE 12 133421038 133421038 deletion of <=200bp T - intron_variant PBCA-DE 12 133421047 133421047 insertion of <=200bp - CT downstream_gene_variant PBCA-DE 12 133421047 133421047 insertion of <=200bp - CT intron_variant PBCA-DE 12 133422949 133422949 single base substitution C T downstream_gene_variant PBCA-DE 12 133422949 133422949 single base substitution C T intron_variant PBCA-DE 12 133430460 133430460 single base substitution G C exon_variant PBCA-DE 12 133430460 133430460 single base substitution G C intron_variant PBCA-DE 12 133430460 133430460 single base substitution G C upstream_gene_variant PBCA-DE 12 133435345 133435345 single base substitution T A downstream_gene_variant PBCA-DE 12 133435345 133435345 single base substitution T A intron_variant PBCA-DE 12 133435345 133435345 single base substitution T A upstream_gene_variant PBCA-DE 12 133445268 133445268 deletion of <=200bp C - downstream_gene_variant PBCA-DE 12 133445268 133445268 deletion of <=200bp C - intron_variant PBCA-DE 12 133451278 133451278 single base substitution A G downstream_gene_variant PBCA-DE 12 133451278 133451278 single base substitution A G intron_variant PBCA-DE 12 133451433 133451433 single base substitution T C downstream_gene_variant PBCA-DE 12 133451433 133451433 single base substitution T C intron_variant PBCA-DE 12 133454391 133454391 insertion of <=200bp - T intron_variant PBCA-DE 12 133465871 133465871 insertion of <=200bp - A intron_variant PBCA-DE 12 133465871 133465871 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 133469396 133469396 insertion of <=200bp - T intron_variant PBCA-DE 12 133474796 133474796 single base substitution T C intron_variant PBCA-DE 12 133475716 133475716 single base substitution A G 5_prime_UTR_variant PBCA-DE 12 133475716 133475716 single base substitution A G intron_variant PBCA-DE 12 133499151 133499151 single base substitution A G intron_variant PBCA-DE 12 133512302 133512302 deletion of <=200bp C - intron_variant PRAD-CA 12 133396434 133396434 single base substitution C A downstream_gene_variant PRAD-CA 12 133412623 133412623 single base substitution C A downstream_gene_variant PRAD-CA 12 133412623 133412623 single base substitution C A intron_variant PRAD-CA 12 133416520 133416520 single base substitution C T downstream_gene_variant PRAD-CA 12 133416520 133416520 single base substitution C T intron_variant PRAD-CA 12 133416557 133416557 single base substitution C T downstream_gene_variant PRAD-CA 12 133416557 133416557 single base substitution C T intron_variant PRAD-CA 12 133427251 133427251 single base substitution C T downstream_gene_variant PRAD-CA 12 133427251 133427251 single base substitution C T intron_variant PRAD-CA 12 133427251 133427251 single base substitution C T upstream_gene_variant PRAD-CA 12 133431103 133431103 single base substitution C A downstream_gene_variant PRAD-CA 12 133431103 133431103 single base substitution C A exon_variant PRAD-CA 12 133431103 133431103 single base substitution C A intron_variant PRAD-CA 12 133431103 133431103 single base substitution C A upstream_gene_variant PRAD-CA 12 133433604 133433604 single base substitution T C downstream_gene_variant PRAD-CA 12 133433604 133433604 single base substitution T C intron_variant PRAD-CA 12 133433604 133433604 single base substitution T C upstream_gene_variant PRAD-CA 12 133450234 133450234 single base substitution G A downstream_gene_variant PRAD-CA 12 133450234 133450234 single base substitution G A intron_variant PRAD-CA 12 133451206 133451206 single base substitution A G downstream_gene_variant PRAD-CA 12 133451206 133451206 single base substitution A G intron_variant PRAD-CA 12 133451227 133451227 single base substitution G A downstream_gene_variant PRAD-CA 12 133451227 133451227 single base substitution G A intron_variant PRAD-CA 12 133469453 133469453 single base substitution A T intron_variant PRAD-CA 12 133475534 133475534 single base substitution G A intron_variant PRAD-CA 12 133492538 133492538 single base substitution T C intron_variant PRAD-UK 12 133397594 133397594 single base substitution G T downstream_gene_variant PRAD-UK 12 133401733 133401733 single base substitution G A intron_variant PRAD-UK 12 133402873 133402873 single base substitution G C intron_variant PRAD-UK 12 133404111 133404111 single base substitution A C intron_variant PRAD-UK 12 133429805 133429805 single base substitution G A downstream_gene_variant PRAD-UK 12 133429805 133429805 single base substitution G A intron_variant PRAD-UK 12 133429805 133429805 single base substitution G A upstream_gene_variant PRAD-UK 12 133443438 133443438 single base substitution C A downstream_gene_variant PRAD-UK 12 133443438 133443438 single base substitution C A intron_variant PRAD-UK 12 133443438 133443438 single base substitution C A upstream_gene_variant PRAD-UK 12 133444772 133444772 single base substitution C A downstream_gene_variant PRAD-UK 12 133444772 133444772 single base substitution C A intron_variant PRAD-UK 12 133455781 133455781 single base substitution G A intron_variant PRAD-UK 12 133468504 133468504 single base substitution C T intron_variant PRAD-UK 12 133468504 133468504 single base substitution C T upstream_gene_variant PRAD-UK 12 133485833 133485833 single base substitution C T intron_variant PRAD-UK 12 133485833 133485833 single base substitution C T upstream_gene_variant PRAD-UK 12 133496165 133496165 single base substitution C T intron_variant PRAD-UK 12 133502710 133502712 deletion of <=200bp TTC - intron_variant PRAD-UK 12 133528915 133528915 single base substitution C T intron_variant PRAD-UK 12 133534518 133534518 single base substitution C T upstream_gene_variant PRAD-US 12 133428223 133428223 single base substitution C T downstream_gene_variant PRAD-US 12 133428223 133428223 single base substitution C T exon_variant PRAD-US 12 133428223 133428223 single base substitution C T intron_variant PRAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P125P 375G>A PRAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P411P 1233G>A PRAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P462P 1386G>A PRAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P491P 1473G>A PRAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P502P 1506G>A PRAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P503P 1509G>A PRAD-US 12 133428223 133428223 single base substitution C T upstream_gene_variant READ-US 12 133423717 133423717 single base substitution C A downstream_gene_variant READ-US 12 133423717 133423717 single base substitution C A exon_variant READ-US 12 133423717 133423717 single base substitution C A splice_acceptor_variant RECA-EU 12 133394536 133394536 single base substitution T A downstream_gene_variant RECA-EU 12 133402430 133402430 single base substitution A G intron_variant RECA-EU 12 133402438 133402438 single base substitution C T intron_variant RECA-EU 12 133402479 133402479 single base substitution G A intron_variant RECA-EU 12 133402484 133402484 single base substitution C G intron_variant RECA-EU 12 133402531 133402531 single base substitution C T intron_variant RECA-EU 12 133402839 133402839 single base substitution A G intron_variant RECA-EU 12 133406415 133406415 single base substitution T A intron_variant RECA-EU 12 133414591 133414591 single base substitution G T downstream_gene_variant RECA-EU 12 133414591 133414591 single base substitution G T intron_variant RECA-EU 12 133415250 133415250 single base substitution C A downstream_gene_variant RECA-EU 12 133415250 133415250 single base substitution C A intron_variant RECA-EU 12 133415251 133415251 single base substitution C T downstream_gene_variant RECA-EU 12 133415251 133415251 single base substitution C T intron_variant RECA-EU 12 133444708 133444708 single base substitution G A downstream_gene_variant RECA-EU 12 133444708 133444708 single base substitution G A intron_variant RECA-EU 12 133445066 133445066 single base substitution T C downstream_gene_variant RECA-EU 12 133445066 133445066 single base substitution T C intron_variant RECA-EU 12 133447197 133447197 single base substitution G C downstream_gene_variant RECA-EU 12 133447197 133447197 single base substitution G C intron_variant RECA-EU 12 133450482 133450482 single base substitution C G downstream_gene_variant RECA-EU 12 133450482 133450482 single base substitution C G intron_variant RECA-EU 12 133487372 133487372 single base substitution C A intron_variant RECA-EU 12 133487372 133487372 single base substitution C A upstream_gene_variant RECA-EU 12 133490189 133490189 single base substitution G A intron_variant RECA-EU 12 133490189 133490189 single base substitution G A upstream_gene_variant RECA-EU 12 133494739 133494739 single base substitution C T intron_variant RECA-EU 12 133498904 133498904 single base substitution C A intron_variant RECA-EU 12 133502188 133502188 single base substitution C T intron_variant SKCA-BR 12 133393830 133393830 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 12 133393851 133393851 single base substitution A G downstream_gene_variant SKCA-BR 12 133394707 133394707 single base substitution T C downstream_gene_variant SKCA-BR 12 133394757 133394790 deletion of <=200bp GCCCTCCACACCTCTACACTATAAGGTGAACTCA - downstream_gene_variant SKCA-BR 12 133396009 133396009 single base substitution G A downstream_gene_variant SKCA-BR 12 133396557 133396557 single base substitution G A downstream_gene_variant SKCA-BR 12 133399616 133399616 single base substitution G A intron_variant SKCA-BR 12 133401494 133401494 single base substitution G A intron_variant SKCA-BR 12 133403279 133403279 single base substitution G A intron_variant SKCA-BR 12 133403682 133403682 single base substitution T G intron_variant SKCA-BR 12 133405788 133405788 single base substitution T C intron_variant SKCA-BR 12 133407810 133407810 single base substitution G A intron_variant SKCA-BR 12 133408542 133408542 single base substitution A C intron_variant SKCA-BR 12 133413598 133413598 single base substitution T G downstream_gene_variant SKCA-BR 12 133413598 133413598 single base substitution T G intron_variant SKCA-BR 12 133415383 133415383 single base substitution G A downstream_gene_variant SKCA-BR 12 133415383 133415383 single base substitution G A intron_variant SKCA-BR 12 133415653 133415653 single base substitution G A downstream_gene_variant SKCA-BR 12 133415653 133415653 single base substitution G A intron_variant SKCA-BR 12 133416500 133416500 single base substitution T C downstream_gene_variant SKCA-BR 12 133416500 133416500 single base substitution T C intron_variant SKCA-BR 12 133416511 133416511 insertion of <=200bp - CTT downstream_gene_variant SKCA-BR 12 133416511 133416511 insertion of <=200bp - CTT intron_variant SKCA-BR 12 133416520 133416520 single base substitution C T downstream_gene_variant SKCA-BR 12 133416520 133416520 single base substitution C T intron_variant SKCA-BR 12 133416543 133416543 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 12 133416543 133416543 insertion of <=200bp - TC intron_variant SKCA-BR 12 133416557 133416557 single base substitution C T downstream_gene_variant SKCA-BR 12 133416557 133416557 single base substitution C T intron_variant SKCA-BR 12 133416574 133416574 single base substitution A G downstream_gene_variant SKCA-BR 12 133416574 133416574 single base substitution A G intron_variant SKCA-BR 12 133416576 133416576 single base substitution A G downstream_gene_variant SKCA-BR 12 133416576 133416576 single base substitution A G intron_variant SKCA-BR 12 133416920 133416920 single base substitution G A downstream_gene_variant SKCA-BR 12 133416920 133416920 single base substitution G A intron_variant SKCA-BR 12 133417286 133417286 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 133417286 133417286 single base substitution G A downstream_gene_variant SKCA-BR 12 133417286 133417286 single base substitution G A exon_variant SKCA-BR 12 133417286 133417286 single base substitution G A intron_variant SKCA-BR 12 133417311 133417311 single base substitution C G 3_prime_UTR_variant SKCA-BR 12 133417311 133417311 single base substitution C G downstream_gene_variant SKCA-BR 12 133417311 133417311 single base substitution C G exon_variant SKCA-BR 12 133417311 133417311 single base substitution C G intron_variant SKCA-BR 12 133419004 133419004 single base substitution C T intron_variant SKCA-BR 12 133419464 133419465 deletion of <=200bp TC - intron_variant SKCA-BR 12 133421125 133421125 single base substitution C T downstream_gene_variant SKCA-BR 12 133421125 133421125 single base substitution C T intron_variant SKCA-BR 12 133421133 133421133 single base substitution G A downstream_gene_variant SKCA-BR 12 133421133 133421133 single base substitution G A intron_variant SKCA-BR 12 133422828 133422828 single base substitution T C downstream_gene_variant SKCA-BR 12 133422828 133422828 single base substitution T C intron_variant SKCA-BR 12 133427994 133427994 single base substitution G A downstream_gene_variant SKCA-BR 12 133427994 133427994 single base substitution G A intron_variant SKCA-BR 12 133427994 133427994 single base substitution G A upstream_gene_variant SKCA-BR 12 133429776 133429776 single base substitution A C downstream_gene_variant SKCA-BR 12 133429776 133429776 single base substitution A C intron_variant SKCA-BR 12 133429776 133429776 single base substitution A C upstream_gene_variant SKCA-BR 12 133430995 133430995 single base substitution G C downstream_gene_variant SKCA-BR 12 133430995 133430995 single base substitution G C exon_variant SKCA-BR 12 133430995 133430995 single base substitution G C intron_variant SKCA-BR 12 133430995 133430995 single base substitution G C upstream_gene_variant SKCA-BR 12 133431828 133431829 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 12 133431828 133431829 deletion of <=200bp GA - intron_variant SKCA-BR 12 133431828 133431829 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 12 133432851 133432851 single base substitution A C downstream_gene_variant SKCA-BR 12 133432851 133432851 single base substitution A C intron_variant SKCA-BR 12 133432851 133432851 single base substitution A C upstream_gene_variant SKCA-BR 12 133435603 133435603 single base substitution G A downstream_gene_variant SKCA-BR 12 133435603 133435603 single base substitution G A intron_variant SKCA-BR 12 133435603 133435603 single base substitution G A upstream_gene_variant SKCA-BR 12 133436127 133436127 single base substitution A G downstream_gene_variant SKCA-BR 12 133436127 133436127 single base substitution A G intron_variant SKCA-BR 12 133436127 133436127 single base substitution A G upstream_gene_variant SKCA-BR 12 133437732 133437732 single base substitution T A downstream_gene_variant SKCA-BR 12 133437732 133437732 single base substitution T A intron_variant SKCA-BR 12 133437732 133437732 single base substitution T A upstream_gene_variant SKCA-BR 12 133437777 133437777 single base substitution G A downstream_gene_variant SKCA-BR 12 133437777 133437777 single base substitution G A intron_variant SKCA-BR 12 133437777 133437777 single base substitution G A upstream_gene_variant SKCA-BR 12 133438120 133438120 single base substitution C G downstream_gene_variant SKCA-BR 12 133438120 133438120 single base substitution C G exon_variant SKCA-BR 12 133438120 133438120 single base substitution C G synonymous_variant A100A 300G>C SKCA-BR 12 133438120 133438120 single base substitution C G synonymous_variant A148A 444G>C SKCA-BR 12 133438120 133438120 single base substitution C G synonymous_variant A199A 597G>C SKCA-BR 12 133438120 133438120 single base substitution C G synonymous_variant A228A 684G>C SKCA-BR 12 133438120 133438120 single base substitution C G synonymous_variant A240A 720G>C SKCA-BR 12 133438120 133438120 single base substitution C G upstream_gene_variant SKCA-BR 12 133438121 133438121 single base substitution G A downstream_gene_variant SKCA-BR 12 133438121 133438121 single base substitution G A exon_variant SKCA-BR 12 133438121 133438121 single base substitution G A missense_variant A100V 299C>T SKCA-BR 12 133438121 133438121 single base substitution G A missense_variant A148V 443C>T SKCA-BR 12 133438121 133438121 single base substitution G A missense_variant A199V 596C>T SKCA-BR 12 133438121 133438121 single base substitution G A missense_variant A228V 683C>T SKCA-BR 12 133438121 133438121 single base substitution G A missense_variant A240V 719C>T SKCA-BR 12 133438121 133438121 single base substitution G A upstream_gene_variant SKCA-BR 12 133438267 133438267 single base substitution G A exon_variant SKCA-BR 12 133438267 133438267 single base substitution G A intron_variant SKCA-BR 12 133438267 133438267 single base substitution G A upstream_gene_variant SKCA-BR 12 133439409 133439409 single base substitution A C intron_variant SKCA-BR 12 133439409 133439409 single base substitution A C upstream_gene_variant SKCA-BR 12 133439972 133439972 single base substitution A C intron_variant SKCA-BR 12 133439972 133439972 single base substitution A C upstream_gene_variant SKCA-BR 12 133439999 133439999 single base substitution G A intron_variant SKCA-BR 12 133439999 133439999 single base substitution G A upstream_gene_variant SKCA-BR 12 133440774 133440774 single base substitution C A intron_variant SKCA-BR 12 133440774 133440774 single base substitution C A upstream_gene_variant SKCA-BR 12 133443043 133443043 single base substitution G A downstream_gene_variant SKCA-BR 12 133443043 133443043 single base substitution G A intron_variant SKCA-BR 12 133443043 133443043 single base substitution G A upstream_gene_variant SKCA-BR 12 133443070 133443070 single base substitution A T downstream_gene_variant SKCA-BR 12 133443070 133443070 single base substitution A T intron_variant SKCA-BR 12 133443070 133443070 single base substitution A T upstream_gene_variant SKCA-BR 12 133444543 133444544 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 12 133444543 133444544 deletion of <=200bp AT - intron_variant SKCA-BR 12 133445045 133445045 single base substitution G A downstream_gene_variant SKCA-BR 12 133445045 133445045 single base substitution G A intron_variant SKCA-BR 12 133445066 133445066 single base substitution T C downstream_gene_variant SKCA-BR 12 133445066 133445066 single base substitution T C intron_variant SKCA-BR 12 133445088 133445088 insertion of <=200bp - AAAAC downstream_gene_variant SKCA-BR 12 133445088 133445088 insertion of <=200bp - AAAAC intron_variant SKCA-BR 12 133445355 133445355 single base substitution A G downstream_gene_variant SKCA-BR 12 133445355 133445355 single base substitution A G intron_variant SKCA-BR 12 133445361 133445361 single base substitution T G downstream_gene_variant SKCA-BR 12 133445361 133445361 single base substitution T G intron_variant SKCA-BR 12 133449190 133449190 single base substitution A C downstream_gene_variant SKCA-BR 12 133449190 133449190 single base substitution A C intron_variant SKCA-BR 12 133450029 133450029 single base substitution G C downstream_gene_variant SKCA-BR 12 133450029 133450029 single base substitution G C intron_variant SKCA-BR 12 133451089 133451089 single base substitution T C downstream_gene_variant SKCA-BR 12 133451089 133451089 single base substitution T C intron_variant SKCA-BR 12 133451152 133451152 single base substitution C T downstream_gene_variant SKCA-BR 12 133451152 133451152 single base substitution C T intron_variant SKCA-BR 12 133451174 133451174 single base substitution A G downstream_gene_variant SKCA-BR 12 133451174 133451174 single base substitution A G intron_variant SKCA-BR 12 133451433 133451433 single base substitution T C downstream_gene_variant SKCA-BR 12 133451433 133451433 single base substitution T C intron_variant SKCA-BR 12 133455419 133455419 single base substitution G A intron_variant SKCA-BR 12 133455573 133455573 insertion of <=200bp - GT intron_variant SKCA-BR 12 133457621 133457621 single base substitution G A intron_variant SKCA-BR 12 133458378 133458378 single base substitution C T intron_variant SKCA-BR 12 133462148 133462148 single base substitution A C intron_variant SKCA-BR 12 133462148 133462148 single base substitution A C upstream_gene_variant SKCA-BR 12 133467193 133467193 single base substitution C T intron_variant SKCA-BR 12 133467193 133467193 single base substitution C T upstream_gene_variant SKCA-BR 12 133468096 133468096 single base substitution C T intron_variant SKCA-BR 12 133468096 133468096 single base substitution C T upstream_gene_variant SKCA-BR 12 133470110 133470110 single base substitution C T intron_variant SKCA-BR 12 133472948 133472948 single base substitution T C intron_variant SKCA-BR 12 133473255 133473255 single base substitution T C intron_variant SKCA-BR 12 133473407 133473407 single base substitution C T intron_variant SKCA-BR 12 133474357 133474357 single base substitution A G intron_variant SKCA-BR 12 133474485 133474485 single base substitution C T intron_variant SKCA-BR 12 133475572 133475572 single base substitution T G intron_variant SKCA-BR 12 133478418 133478419 deletion of <=200bp CT - intron_variant SKCA-BR 12 133479784 133479784 single base substitution G A intron_variant SKCA-BR 12 133484008 133484008 single base substitution T C intron_variant SKCA-BR 12 133484008 133484008 single base substitution T C upstream_gene_variant SKCA-BR 12 133489563 133489563 insertion of <=200bp - ATTTTT intron_variant SKCA-BR 12 133489563 133489563 insertion of <=200bp - ATTTTT upstream_gene_variant SKCA-BR 12 133495602 133495602 single base substitution C T intron_variant SKCA-BR 12 133495834 133495834 single base substitution G A intron_variant SKCA-BR 12 133495835 133495835 single base substitution G A intron_variant SKCA-BR 12 133497981 133497981 single base substitution G A intron_variant SKCA-BR 12 133498284 133498284 single base substitution G A intron_variant SKCA-BR 12 133498840 133498840 single base substitution C T intron_variant SKCA-BR 12 133501216 133501216 single base substitution G A intron_variant SKCA-BR 12 133509818 133509818 single base substitution G A intron_variant SKCA-BR 12 133516619 133516619 single base substitution G T intron_variant SKCM-US 12 133418169 133418169 single base substitution T A exon_variant SKCM-US 12 133418169 133418169 single base substitution T A missense_variant I278F 832A>T SKCM-US 12 133418169 133418169 single base substitution T A missense_variant I564F 1690A>T SKCM-US 12 133418169 133418169 single base substitution T A missense_variant I615F 1843A>T SKCM-US 12 133418169 133418169 single base substitution T A missense_variant I644F 1930A>T SKCM-US 12 133418169 133418169 single base substitution T A missense_variant I655F 1963A>T SKCM-US 12 133418169 133418169 single base substitution T A missense_variant I656F 1966A>T SKCM-US 12 133418169 133418169 single base substitution T A missense_variant I83F 247A>T SKCM-US 12 133428221 133428221 single base substitution C G downstream_gene_variant SKCM-US 12 133428221 133428221 single base substitution C G exon_variant SKCM-US 12 133428221 133428221 single base substitution C G intron_variant SKCM-US 12 133428221 133428221 single base substitution C G missense_variant R126P 377G>C SKCM-US 12 133428221 133428221 single base substitution C G missense_variant R412P 1235G>C SKCM-US 12 133428221 133428221 single base substitution C G missense_variant R463P 1388G>C SKCM-US 12 133428221 133428221 single base substitution C G missense_variant R492P 1475G>C SKCM-US 12 133428221 133428221 single base substitution C G missense_variant R503P 1508G>C SKCM-US 12 133428221 133428221 single base substitution C G missense_variant R504P 1511G>C SKCM-US 12 133428221 133428221 single base substitution C G upstream_gene_variant SKCM-US 12 133430057 133430057 single base substitution G A downstream_gene_variant SKCM-US 12 133430057 133430057 single base substitution G A exon_variant SKCM-US 12 133430057 133430057 single base substitution G A intron_variant SKCM-US 12 133430057 133430057 single base substitution G A synonymous_variant A364A 1092C>T SKCM-US 12 133430057 133430057 single base substitution G A synonymous_variant A415A 1245C>T SKCM-US 12 133430057 133430057 single base substitution G A synonymous_variant A444A 1332C>T SKCM-US 12 133430057 133430057 single base substitution G A synonymous_variant A456A 1368C>T SKCM-US 12 133430057 133430057 single base substitution G A synonymous_variant A78A 234C>T SKCM-US 12 133430057 133430057 single base substitution G A upstream_gene_variant SKCM-US 12 133434019 133434019 single base substitution G A downstream_gene_variant SKCM-US 12 133434019 133434019 single base substitution G A exon_variant SKCM-US 12 133434019 133434019 single base substitution G A synonymous_variant L266L 798C>T SKCM-US 12 133434019 133434019 single base substitution G A synonymous_variant L317L 951C>T SKCM-US 12 133434019 133434019 single base substitution G A synonymous_variant L346L 1038C>T SKCM-US 12 133434019 133434019 single base substitution G A synonymous_variant L358L 1074C>T SKCM-US 12 133434019 133434019 single base substitution G A upstream_gene_variant SKCM-US 12 133434021 133434021 single base substitution G A downstream_gene_variant SKCM-US 12 133434021 133434021 single base substitution G A exon_variant SKCM-US 12 133434021 133434021 single base substitution G A missense_variant L266F 796C>T SKCM-US 12 133434021 133434021 single base substitution G A missense_variant L317F 949C>T SKCM-US 12 133434021 133434021 single base substitution G A missense_variant L346F 1036C>T SKCM-US 12 133434021 133434021 single base substitution G A missense_variant L358F 1072C>T SKCM-US 12 133434021 133434021 single base substitution G A upstream_gene_variant SKCM-US 12 133434031 133434031 single base substitution G A downstream_gene_variant SKCM-US 12 133434031 133434031 single base substitution G A exon_variant SKCM-US 12 133434031 133434031 single base substitution G A synonymous_variant I262I 786C>T SKCM-US 12 133434031 133434031 single base substitution G A synonymous_variant I313I 939C>T SKCM-US 12 133434031 133434031 single base substitution G A synonymous_variant I342I 1026C>T SKCM-US 12 133434031 133434031 single base substitution G A synonymous_variant I354I 1062C>T SKCM-US 12 133434031 133434031 single base substitution G A upstream_gene_variant SKCM-US 12 133438100 133438100 single base substitution G A downstream_gene_variant SKCM-US 12 133438100 133438100 single base substitution G A exon_variant SKCM-US 12 133438100 133438100 single base substitution G A missense_variant P107L 320C>T SKCM-US 12 133438100 133438100 single base substitution G A missense_variant P155L 464C>T SKCM-US 12 133438100 133438100 single base substitution G A missense_variant P206L 617C>T SKCM-US 12 133438100 133438100 single base substitution G A missense_variant P235L 704C>T SKCM-US 12 133438100 133438100 single base substitution G A missense_variant P247L 740C>T SKCM-US 12 133438100 133438100 single base substitution G A upstream_gene_variant SKCM-US 12 133438112 133438112 single base substitution G A downstream_gene_variant SKCM-US 12 133438112 133438112 single base substitution G A exon_variant SKCM-US 12 133438112 133438112 single base substitution G A missense_variant S103L 308C>T SKCM-US 12 133438112 133438112 single base substitution G A missense_variant S151L 452C>T SKCM-US 12 133438112 133438112 single base substitution G A missense_variant S202L 605C>T SKCM-US 12 133438112 133438112 single base substitution G A missense_variant S231L 692C>T SKCM-US 12 133438112 133438112 single base substitution G A missense_variant S243L 728C>T SKCM-US 12 133438112 133438112 single base substitution G A upstream_gene_variant SKCM-US 12 133438182 133438182 single base substitution G A exon_variant SKCM-US 12 133438182 133438182 single base substitution G A missense_variant P128S 382C>T SKCM-US 12 133438182 133438182 single base substitution G A missense_variant P179S 535C>T SKCM-US 12 133438182 133438182 single base substitution G A missense_variant P208S 622C>T SKCM-US 12 133438182 133438182 single base substitution G A missense_variant P220S 658C>T SKCM-US 12 133438182 133438182 single base substitution G A missense_variant P80S 238C>T SKCM-US 12 133438182 133438182 single base substitution G A upstream_gene_variant SKCM-US 12 133448935 133448935 single base substitution C T 5_prime_UTR_variant SKCM-US 12 133448935 133448935 single base substitution C T exon_variant SKCM-US 12 133448935 133448935 single base substitution C T synonymous_variant Q93Q 279G>A SKCM-US 12 133502309 133502309 single base substitution T A intron_variant SKCM-US 12 133502373 133502373 single base substitution G A intron_variant STAD-US 12 133398686 133398686 single base substitution C T downstream_gene_variant STAD-US 12 133419637 133419637 single base substitution C T exon_variant STAD-US 12 133419637 133419637 single base substitution C T missense_variant G260S 778G>A STAD-US 12 133419637 133419637 single base substitution C T missense_variant G546S 1636G>A STAD-US 12 133419637 133419637 single base substitution C T missense_variant G597S 1789G>A STAD-US 12 133419637 133419637 single base substitution C T missense_variant G626S 1876G>A STAD-US 12 133419637 133419637 single base substitution C T missense_variant G637S 1909G>A STAD-US 12 133419637 133419637 single base substitution C T missense_variant G638S 1912G>A STAD-US 12 133419637 133419637 single base substitution C T missense_variant G65S 193G>A STAD-US 12 133428216 133428216 single base substitution C T downstream_gene_variant STAD-US 12 133428216 133428216 single base substitution C T exon_variant STAD-US 12 133428216 133428216 single base substitution C T intron_variant STAD-US 12 133428216 133428216 single base substitution C T missense_variant A128T 382G>A STAD-US 12 133428216 133428216 single base substitution C T missense_variant A414T 1240G>A STAD-US 12 133428216 133428216 single base substitution C T missense_variant A465T 1393G>A STAD-US 12 133428216 133428216 single base substitution C T missense_variant A494T 1480G>A STAD-US 12 133428216 133428216 single base substitution C T missense_variant A505T 1513G>A STAD-US 12 133428216 133428216 single base substitution C T missense_variant A506T 1516G>A STAD-US 12 133428216 133428216 single base substitution C T upstream_gene_variant STAD-US 12 133428223 133428223 single base substitution C T downstream_gene_variant STAD-US 12 133428223 133428223 single base substitution C T exon_variant STAD-US 12 133428223 133428223 single base substitution C T intron_variant STAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P125P 375G>A STAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P411P 1233G>A STAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P462P 1386G>A STAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P491P 1473G>A STAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P502P 1506G>A STAD-US 12 133428223 133428223 single base substitution C T synonymous_variant P503P 1509G>A STAD-US 12 133428223 133428223 single base substitution C T upstream_gene_variant STAD-US 12 133433083 133433083 single base substitution T C downstream_gene_variant STAD-US 12 133433083 133433083 single base substitution T C exon_variant STAD-US 12 133433083 133433083 single base substitution T C synonymous_variant S320S 960A>G STAD-US 12 133433083 133433083 single base substitution T C synonymous_variant S34S 102A>G STAD-US 12 133433083 133433083 single base substitution T C synonymous_variant S371S 1113A>G STAD-US 12 133433083 133433083 single base substitution T C synonymous_variant S400S 1200A>G STAD-US 12 133433083 133433083 single base substitution T C synonymous_variant S412S 1236A>G STAD-US 12 133433083 133433083 single base substitution T C upstream_gene_variant STAD-US 12 133433166 133433166 single base substitution T C downstream_gene_variant STAD-US 12 133433166 133433166 single base substitution T C exon_variant STAD-US 12 133433166 133433166 single base substitution T C missense_variant I293V 877A>G STAD-US 12 133433166 133433166 single base substitution T C missense_variant I344V 1030A>G STAD-US 12 133433166 133433166 single base substitution T C missense_variant I373V 1117A>G STAD-US 12 133433166 133433166 single base substitution T C missense_variant I385V 1153A>G STAD-US 12 133433166 133433166 single base substitution T C missense_variant I7V 19A>G STAD-US 12 133433166 133433166 single base substitution T C upstream_gene_variant STAD-US 12 133433184 133433184 single base substitution T C downstream_gene_variant STAD-US 12 133433184 133433184 single base substitution T C exon_variant STAD-US 12 133433184 133433184 single base substitution T C missense_variant M287V 859A>G STAD-US 12 133433184 133433184 single base substitution T C missense_variant M338V 1012A>G STAD-US 12 133433184 133433184 single base substitution T C missense_variant M367V 1099A>G STAD-US 12 133433184 133433184 single base substitution T C missense_variant M379V 1135A>G STAD-US 12 133433184 133433184 single base substitution T C start_lost M1V 1A>G STAD-US 12 133433184 133433184 single base substitution T C upstream_gene_variant STAD-US 12 133435665 133435665 single base substitution G A downstream_gene_variant STAD-US 12 133435665 133435665 single base substitution G A exon_variant STAD-US 12 133435665 133435665 single base substitution G A synonymous_variant H220H 660C>T STAD-US 12 133435665 133435665 single base substitution G A synonymous_variant H271H 813C>T STAD-US 12 133435665 133435665 single base substitution G A synonymous_variant H300H 900C>T STAD-US 12 133435665 133435665 single base substitution G A synonymous_variant H312H 936C>T STAD-US 12 133435665 133435665 single base substitution G A upstream_gene_variant STAD-US 12 133435715 133435715 single base substitution C G downstream_gene_variant STAD-US 12 133435715 133435715 single base substitution C G exon_variant STAD-US 12 133435715 133435715 single base substitution C G missense_variant D204H 610G>C STAD-US 12 133435715 133435715 single base substitution C G missense_variant D255H 763G>C STAD-US 12 133435715 133435715 single base substitution C G missense_variant D284H 850G>C STAD-US 12 133435715 133435715 single base substitution C G missense_variant D296H 886G>C STAD-US 12 133435715 133435715 single base substitution C G upstream_gene_variant STAD-US 12 133435752 133435752 single base substitution G A downstream_gene_variant STAD-US 12 133435752 133435752 single base substitution G A exon_variant STAD-US 12 133435752 133435752 single base substitution G A synonymous_variant T191T 573C>T STAD-US 12 133435752 133435752 single base substitution G A synonymous_variant T242T 726C>T STAD-US 12 133435752 133435752 single base substitution G A synonymous_variant T271T 813C>T STAD-US 12 133435752 133435752 single base substitution G A synonymous_variant T283T 849C>T STAD-US 12 133435752 133435752 single base substitution G A upstream_gene_variant STAD-US 12 133438121 133438121 single base substitution G A downstream_gene_variant STAD-US 12 133438121 133438121 single base substitution G A exon_variant STAD-US 12 133438121 133438121 single base substitution G A missense_variant A100V 299C>T STAD-US 12 133438121 133438121 single base substitution G A missense_variant A148V 443C>T STAD-US 12 133438121 133438121 single base substitution G A missense_variant A199V 596C>T STAD-US 12 133438121 133438121 single base substitution G A missense_variant A228V 683C>T STAD-US 12 133438121 133438121 single base substitution G A missense_variant A240V 719C>T STAD-US 12 133438121 133438121 single base substitution G A upstream_gene_variant STAD-US 12 133448913 133448913 insertion of <=200bp - C 5_prime_UTR_variant STAD-US 12 133448913 133448913 insertion of <=200bp - C exon_variant STAD-US 12 133448913 133448913 insertion of <=200bp - C frameshift_variant D101G? STAD-US 12 133501996 133501996 single base substitution G A intron_variant STAD-US 12 133502068 133502068 single base substitution C A intron_variant THCA-SA 12 133417311 133417311 single base substitution C G 3_prime_UTR_variant THCA-SA 12 133417311 133417311 single base substitution C G downstream_gene_variant THCA-SA 12 133417311 133417311 single base substitution C G exon_variant THCA-SA 12 133417311 133417311 single base substitution C G intron_variant THCA-SA 12 133498344 133498344 single base substitution G A intron_variant UCEC-US 12 133398643 133398643 single base substitution G T downstream_gene_variant UCEC-US 12 133419624 133419624 single base substitution C T exon_variant UCEC-US 12 133419624 133419624 single base substitution C T missense_variant R264H 791G>A UCEC-US 12 133419624 133419624 single base substitution C T missense_variant R550H 1649G>A UCEC-US 12 133419624 133419624 single base substitution C T missense_variant R601H 1802G>A UCEC-US 12 133419624 133419624 single base substitution C T missense_variant R630H 1889G>A UCEC-US 12 133419624 133419624 single base substitution C T missense_variant R641H 1922G>A UCEC-US 12 133419624 133419624 single base substitution C T missense_variant R642H 1925G>A UCEC-US 12 133419624 133419624 single base substitution C T missense_variant R69H 206G>A UCEC-US 12 133425242 133425242 single base substitution G T downstream_gene_variant UCEC-US 12 133425242 133425242 single base substitution G T exon_variant UCEC-US 12 133425242 133425242 single base substitution G T missense_variant L155M 463C>A UCEC-US 12 133425242 133425242 single base substitution G T missense_variant L441M 1321C>A UCEC-US 12 133425242 133425242 single base substitution G T missense_variant L492M 1474C>A UCEC-US 12 133425242 133425242 single base substitution G T missense_variant L521M 1561C>A UCEC-US 12 133425242 133425242 single base substitution G T missense_variant L532M 1594C>A UCEC-US 12 133425242 133425242 single base substitution G T missense_variant L533M 1597C>A UCEC-US 12 133425242 133425242 single base substitution G T upstream_gene_variant UCEC-US 12 133428286 133428286 single base substitution G A downstream_gene_variant UCEC-US 12 133428286 133428286 single base substitution G A exon_variant UCEC-US 12 133428286 133428286 single base substitution G A intron_variant UCEC-US 12 133428286 133428286 single base substitution G A synonymous_variant H104H 312C>T UCEC-US 12 133428286 133428286 single base substitution G A synonymous_variant H390H 1170C>T UCEC-US 12 133428286 133428286 single base substitution G A synonymous_variant H441H 1323C>T UCEC-US 12 133428286 133428286 single base substitution G A synonymous_variant H470H 1410C>T UCEC-US 12 133428286 133428286 single base substitution G A synonymous_variant H481H 1443C>T UCEC-US 12 133428286 133428286 single base substitution G A synonymous_variant H482H 1446C>T UCEC-US 12 133428286 133428286 single base substitution G A upstream_gene_variant UCEC-US 12 133430022 133430022 single base substitution G A downstream_gene_variant UCEC-US 12 133430022 133430022 single base substitution G A exon_variant UCEC-US 12 133430022 133430022 single base substitution G A intron_variant UCEC-US 12 133430022 133430022 single base substitution G A missense_variant T376M 1127C>T UCEC-US 12 133430022 133430022 single base substitution G A missense_variant T427M 1280C>T UCEC-US 12 133430022 133430022 single base substitution G A missense_variant T456M 1367C>T UCEC-US 12 133430022 133430022 single base substitution G A missense_variant T468M 1403C>T UCEC-US 12 133430022 133430022 single base substitution G A missense_variant T90M 269C>T UCEC-US 12 133430022 133430022 single base substitution G A upstream_gene_variant UCEC-US 12 133433133 133433133 single base substitution G A downstream_gene_variant UCEC-US 12 133433133 133433133 single base substitution G A exon_variant UCEC-US 12 133433133 133433133 single base substitution G A missense_variant R18W 52C>T UCEC-US 12 133433133 133433133 single base substitution G A missense_variant R304W 910C>T UCEC-US 12 133433133 133433133 single base substitution G A missense_variant R355W 1063C>T UCEC-US 12 133433133 133433133 single base substitution G A missense_variant R384W 1150C>T UCEC-US 12 133433133 133433133 single base substitution G A missense_variant R396W 1186C>T UCEC-US 12 133433133 133433133 single base substitution G A upstream_gene_variant UCEC-US 12 133434124 133434124 single base substitution C T downstream_gene_variant UCEC-US 12 133434124 133434124 single base substitution C T exon_variant UCEC-US 12 133434124 133434124 single base substitution C T synonymous_variant T231T 693G>A UCEC-US 12 133434124 133434124 single base substitution C T synonymous_variant T282T 846G>A UCEC-US 12 133434124 133434124 single base substitution C T synonymous_variant T311T 933G>A UCEC-US 12 133434124 133434124 single base substitution C T synonymous_variant T323T 969G>A UCEC-US 12 133434124 133434124 single base substitution C T upstream_gene_variant UCEC-US 12 133435699 133435699 single base substitution G A downstream_gene_variant UCEC-US 12 133435699 133435699 single base substitution G A exon_variant UCEC-US 12 133435699 133435699 single base substitution G A missense_variant T209M 626C>T UCEC-US 12 133435699 133435699 single base substitution G A missense_variant T260M 779C>T UCEC-US 12 133435699 133435699 single base substitution G A missense_variant T289M 866C>T UCEC-US 12 133435699 133435699 single base substitution G A missense_variant T301M 902C>T UCEC-US 12 133435699 133435699 single base substitution G A upstream_gene_variant UCEC-US 12 133438075 133438075 single base substitution G A downstream_gene_variant UCEC-US 12 133438075 133438075 single base substitution G A exon_variant UCEC-US 12 133438075 133438075 single base substitution G A synonymous_variant P115P 345C>T UCEC-US 12 133438075 133438075 single base substitution G A synonymous_variant P163P 489C>T UCEC-US 12 133438075 133438075 single base substitution G A synonymous_variant P214P 642C>T UCEC-US 12 133438075 133438075 single base substitution G A synonymous_variant P243P 729C>T UCEC-US 12 133438075 133438075 single base substitution G A synonymous_variant P255P 765C>T UCEC-US 12 133438075 133438075 single base substitution G A upstream_gene_variant UCEC-US 12 133438137 133438137 single base substitution G T exon_variant UCEC-US 12 133438137 133438137 single base substitution G T missense_variant P143T 427C>A UCEC-US 12 133438137 133438137 single base substitution G T missense_variant P194T 580C>A UCEC-US 12 133438137 133438137 single base substitution G T missense_variant P223T 667C>A UCEC-US 12 133438137 133438137 single base substitution G T missense_variant P235T 703C>A UCEC-US 12 133438137 133438137 single base substitution G T missense_variant P95T 283C>A UCEC-US 12 133438137 133438137 single base substitution G T upstream_gene_variant UCEC-US 12 133446260 133446260 single base substitution G T downstream_gene_variant UCEC-US 12 133446260 133446260 single base substitution G T intron_variant UCEC-US 12 133446260 133446260 single base substitution G T splice_region_variant UCEC-US 12 133446260 133446260 single base substitution G T synonymous_variant A176A 528C>A UCEC-US 12 133446260 133446260 single base substitution G T synonymous_variant A188A 564C>A UCEC-US 12 133446260 133446260 single base substitution G T synonymous_variant A48A 144C>A UCEC-US 12 133446260 133446260 single base substitution G T synonymous_variant A60A 180C>A UCEC-US 12 133501975 133501975 single base substitution C A intron_variant UCEC-US 12 133502450 133502450 single base substitution A G intron_variant UCEC-US 12 133502497 133502497 single base substitution C T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B59-3-Tumor COSM1746858 c.1837A>C p.T613P Substitution - Missense 12:132844069-132844069 - ESCC-248T COSM2002317 c.597G>A p.A199A Substitution - coding silent 12:132861534-132861534 - TCGA-B2-5633-01 COSM1135337 c.209G>A p.G70D Substitution - Missense 12:132877579-132877579 - TCGA-DM-A28F-01 COSM1360321 c.289_290delTT p.L97fs*14 Deletion - Frameshift 12:132872338-132872339 - 8031157 COSM3688107 c.1791C>T p.G597G Substitution - coding silent 12:132843049-132843049 - BCM325T COSM4798969 c.1660A>T p.S554C Substitution - Missense 12:132848108-132848108 - CSCC-20-T COSM4555332 c.527G>A p.G176E Substitution - Missense 12:132861604-132861604 - CRC-19T COSM5481002 c.1518C>T p.D506D Substitution - coding silent 12:132848127-132848127 - TCGA-CH-5762-01 COSM2002269 c.1509G>A p.P503P Substitution - coding silent 12:132851637-132851637 - TCGA-BR-8382-01 COSM4040489 c.719C>T p.A240V Substitution - Missense 12:132861535-132861535 - ESCC_133 COSM5642481 c.856G>A p.E286K Substitution - Missense 12:132859159-132859159 - C547 COSM4442353 c.970C>T p.Q324* Substitution - Nonsense 12:132857414-132857414 - 8053200 COSM3384190 c.1498G>A p.E500K Substitution - Missense 12:132851648-132851648 - TCGA-G4-6320-01 COSM3688108 c.1389G>T p.T463T Substitution - coding silent 12:132853450-132853450 - TCGA-EE-A29D-06 COSM3458415 c.949C>T p.L317F Substitution - Missense 12:132857435-132857435 - ESCC_170 COSM5649172 c.978A>G p.P326P Substitution - coding silent 12:132857406-132857406 - TCGA-18-3409-01 COSM693105 c.725C>T p.T242I Substitution - Missense 12:132859167-132859167 - TCGA-AA-3525-01 COSM291733 c.676G>A p.D226N Substitution - Missense 12:132859216-132859216 - T1204 COSM4672139 c.1392C>T p.S464S Substitution - coding silent 12:132853447-132853447 - 255 COSM3732226 c.1479C>T p.P493P Substitution - coding silent 12:132851667-132851667 - ESCC_130 COSM1194099 c.707C>T p.P236L Substitution - Missense 12:132859185-132859185 - T3080 COSM4672144 c.604delT p.S202fs*14 Deletion - Frameshift 12:132861527-132861527 - TCGA-HU-A4G8-01 COSM4040474 c.1789G>A p.G597S Substitution - Missense 12:132843051-132843051 - TCGA-HF-7136-01 COSM4040488 c.726C>T p.T242T Substitution - coding silent 12:132859166-132859166 - CSCC-44-T COSM4507230 c.617C>T p.P206L Substitution - Missense 12:132861514-132861514 - TCGA-B5-A11E-01 COSM1586310 c.1597C>A p.L533M Substitution - Missense 12:132848656-132848656 - TCGA-AP-A0LM-01 COSM937379 c.1802G>A p.R601H Substitution - Missense 12:132843038-132843038 - ESCC_158 COSM5646631 c.114G>A p.W38* Substitution - Nonsense 12:132887215-132887215 - Pat_59_B COSM5840620 c.233+1G>A p.? Unknown 12:132877554-132877554 - TCGA-AX-A0J1-01 COSM937383 c.1063C>T p.R355W Substitution - Missense 12:132856547-132856547 - TCGA-DM-A28C-01 COSM937383 c.1063C>T p.R355W Substitution - Missense 12:132856547-132856547 - SNUH_G16_S1 COSM3998714 c.1367C>G p.A456G Substitution - Missense 12:132851656-132851656 - TCGA-DK-A1A3-01 COSM1133388 c.1522C>T p.Q508* Substitution - Nonsense 12:132851624-132851624 - TCGA-ER-A3PL-06 COSM3458420 c.658C>T p.P220S Substitution - Missense 12:132861596-132861596 - 2521243 COSM301938 c.1385C>T p.P462L Substitution - Missense 12:132851638-132851638 - TCGA-BR-6452-01 COSM4040479 c.1153A>G p.I385V Substitution - Missense 12:132856580-132856580 - TCGA-AX-A0J1-01 COSM1360319 c.1186C>T p.R396W Substitution - Missense 12:132856547-132856547 - PT16_1 COSM3458418 c.728C>T p.S243L Substitution - Missense 12:132861526-132861526 - TCGA-CA-6717-01 COSM1360318 c.1067C>A p.S356Y Substitution - Missense 12:132856543-132856543 - sysucc-783T COSM5483736 c.1924C>T p.R642C Substitution - Missense 12:132843039-132843039 - TCGA-AX-A0J1-01 COSM1586308 c.902C>T p.T301M Substitution - Missense 12:132859113-132859113 - CSCC-20-T COSM4555331 c.650G>A p.G217E Substitution - Missense 12:132861604-132861604 - TCGA-BR-6452-01 COSM4040480 c.1030A>G p.I344V Substitution - Missense 12:132856580-132856580 - TCGA-AA-3715-01 COSM268888 c.1648G>T p.D550Y Substitution - Missense 12:132847043-132847043 - YUPAER COSM5374707 c.1237C>T p.P413S Substitution - Missense 12:132853479-132853479 - T1204 COSM4672140 c.1269C>T p.S423S Substitution - coding silent 12:132853447-132853447 - TCGA-DG-A2KL-01 COSM4851322 c.206C>G p.S69* Substitution - Nonsense 12:132877582-132877582 - TCGA-D1-A103-01 COSM937381 c.1323C>T p.H441H Substitution - coding silent 12:132851700-132851700 - J30_T COSM3954457 c.804G>C p.L268L Substitution - coding silent 12:132859211-132859211 - TCGA-BR-8363-01 COSM4040483 c.936C>T p.H312H Substitution - coding silent 12:132859079-132859079 - TCGA-18-4721-01 COSM1146958 c.850G>A p.V284I Substitution - Missense 12:132859165-132859165 - TCGA-AX-A0J1-01 COSM937385 c.779C>T p.T260M Substitution - Missense 12:132859113-132859113 - 11 COSM468058 c.814G>A p.D272N Substitution - Missense 12:132859078-132859078 - CSCC-10-T COSM4476460 c.206C>T p.S69L Substitution - Missense 12:132877582-132877582 - CCK81 COSM4620657 c.1409C>T p.A470V Substitution - Missense 12:132848721-132848721 - TCGA-HF-7136-01 COSM4040487 c.849C>T p.T283T Substitution - coding silent 12:132859166-132859166 - PT49 COSM5935860 c.344-7C>T p.? Unknown 12:132870790-132870790 - 2530678 COSM5885388 c.789T>C p.D263D Substitution - coding silent 12:132859226-132859226 - CRC-19T COSM5481001 c.1641C>T p.D547D Substitution - coding silent 12:132848127-132848127 - TCGA-18-3417-01 COSM1146957 c.874G>T p.A292S Substitution - Missense 12:132859141-132859141 - TCGA-DM-A28C-01 COSM1360319 c.1186C>T p.R396W Substitution - Missense 12:132856547-132856547 - B59-3-Tumor COSM1746859 c.1714A>C p.T572P Substitution - Missense 12:132844069-132844069 - SJHGG034_D COSM4970315 c.861C>T p.D287D Substitution - coding silent 12:132859154-132859154 - CSCC-10-T COSM4568254 c.1050T>C p.C350C Substitution - coding silent 12:132857457-132857457 - TCGA-AZ-6598-01 COSM1360316 c.1224C>T p.G408G Substitution - coding silent 12:132853492-132853492 - TCGA-CH-5762-01 COSM1128640 c.1386G>A p.P462P Substitution - coding silent 12:132851637-132851637 - HX24T COSM3703980 c.1752G>T p.L584F Substitution - Missense 12:132844031-132844031 - LS411 COSM2002300 c.931C>T p.L311L Substitution - coding silent 12:132859084-132859084 - TCGA-AM-5820-01 COSM3688106 c.1914C>T p.G638G Substitution - coding silent 12:132843049-132843049 - TCGA-A6-6650-01 COSM3753072 c.413C>T p.P138L Substitution - Missense 12:132862416-132862416 - CSCC-10-T COSM4568255 c.927T>C p.C309C Substitution - coding silent 12:132857457-132857457 - CN-AML-08-T COSM1180448 c.1490C>T p.A497V Substitution - Missense 12:132851656-132851656 - LS174T COSM4645839 c.1286G>A p.R429Q Substitution - Missense 12:132853553-132853553 - HN_62426 COSM126621 c.1345C>T p.Q449* Substitution - Nonsense 12:132851678-132851678 - OSCC-GB_01110111 COSM4884556 c.1825G>A p.A609T Substitution - Missense 12:132843015-132843015 - T2940 COSM4672142 c.989G>A p.R330H Substitution - Missense 12:132856621-132856621 - TCGA-HU-A4H8-01 COSM1128640 c.1386G>A p.P462P Substitution - coding silent 12:132851637-132851637 - CSCC-47-T COSM4525960 c.1365G>A p.Q455Q Substitution - coding silent 12:132853474-132853474 - B87 COSM1133388 c.1522C>T p.Q508* Substitution - Nonsense 12:132851624-132851624 - YUPAER COSM5374706 c.1360C>T p.P454S Substitution - Missense 12:132853479-132853479 - LUAD-S01346 COSM404320 c.1455G>A p.R485R Substitution - coding silent 12:132848675-132848675 - SNUH_G76_S1 COSM4416888 c.1705T>C p.L569L Substitution - coding silent 12:132847109-132847109 - S00945 COSM5664400 c.466G>T p.G156W Substitution - Missense 12:132869772-132869772 - ESCC-248T COSM2002316 c.720G>A p.A240A Substitution - coding silent 12:132861534-132861534 - TCGA-BR-8382-01 COSM4040490 c.596C>T p.A199V Substitution - Missense 12:132861535-132861535 - STC232 COSM1128639 c.852C>T p.C284C Substitution - coding silent 12:132857532-132857532 - TCGA-P4-A5EB-01 COSM3986782 c.1190C>A p.A397E Substitution - Missense 12:132853526-132853526 - TCGA-G4-6320-01 COSM3688109 c.1266G>T p.T422T Substitution - coding silent 12:132853450-132853450 - ESCC_133 COSM5642482 c.733G>A p.E245K Substitution - Missense 12:132859159-132859159 - CCK81 COSM2002285 c.1064G>A p.R355Q Substitution - Missense 12:132856546-132856546 - CSCC-45-T COSM4553103 c.580G>A p.E194K Substitution - Missense 12:132869658-132869658 - OSCC-GB_01290111 COSM4657109 c.1219G>A p.E407K Substitution - Missense 12:132853497-132853497 - TCGA-D1-A103-01 COSM1586309 c.1446C>T p.H482H Substitution - coding silent 12:132851700-132851700 - T3080 COSM4672143 c.727delT p.S243fs*14 Deletion - Frameshift 12:132861527-132861527 - Pat_44_B COSM5840614 c.763C>T p.P255S Substitution - Missense 12:132861491-132861491 - sysucc-1370T COSM5469932 c.1467C>T p.Y489Y Substitution - coding silent 12:132848663-132848663 - ESCC_170 COSM5649173 c.1098T>C p.H366H Substitution - coding silent 12:132857409-132857409 - OSCC-GB_01110111 COSM4884555 c.1948G>A p.A650T Substitution - Missense 12:132843015-132843015 - CN-AML-NR-08-Dx COSM1180448 c.1490C>T p.A497V Substitution - Missense 12:132851656-132851656 - TCGA-P4-A5EB-01 COSM3986781 c.1313C>A p.A438E Substitution - Missense 12:132853526-132853526 - KYSE-510 COSM2002254 c.1614C>G p.L538L Substitution - coding silent 12:132847077-132847077 - PT35 COSM5913357 c.1091C>T p.S364L Substitution - Missense 12:132856519-132856519 - OSCC-GB_01050111 COSM4889856 c.1385C>A p.P462Q Substitution - Missense 12:132851638-132851638 - SNUH_G76_S1 COSM1180448 c.1490C>T p.A497V Substitution - Missense 12:132851656-132851656 - LS174T COSM4645840 c.1163G>A p.R388Q Substitution - Missense 12:132853553-132853553 - TCGA-EE-A2MT-06 COSM3458412 c.1074C>T p.L358L Substitution - coding silent 12:132857433-132857433 - TCGA-18-3417-01 COSM693107 c.751G>T p.A251S Substitution - Missense 12:132859141-132859141 - 2290929 COSM4440315 c.1592G>A p.G531D Substitution - Missense 12:132848661-132848661 - TCGA-ER-A3PL-06 COSM3458421 c.535C>T p.P179S Substitution - Missense 12:132861596-132861596 - TCGA-G9-6373-01 COSM1128639 c.852C>T p.C284C Substitution - coding silent 12:132857532-132857532 - LS411 COSM2002301 c.808C>T p.L270L Substitution - coding silent 12:132859084-132859084 - TCGA-CD-5801-01 COSM4040478 c.1113A>G p.S371S Substitution - coding silent 12:132856497-132856497 - PT49 COSM5935861 c.344-7C>T p.? Unknown 12:132870790-132870790 - KYSE-510 COSM2002253 c.1737C>G p.L579L Substitution - coding silent 12:132847077-132847077 - ESO-0292 COSM1241008 c.1025A>G p.N342S Substitution - Missense 12:132856585-132856585 - CCK81 COSM2002302 c.832C>T p.R278C Substitution - Missense 12:132859183-132859183 - TCGA-EE-A2MS-06 COSM3458419 c.605C>T p.S202L Substitution - Missense 12:132861526-132861526 - TCGA-H4-A2HQ-01 COSM1299173 c.1368_1369GG>AC p.E457Q Substitution - Missense 12:132851654-132851655 - SW48 COSM4656142 c.130C>T p.R44* Substitution - Nonsense 12:132887199-132887199 - Pat_46_B COSM5840618 c.296C>T p.T99I Substitution - Missense 12:132872332-132872332 - TCGA-B5-A11E-01 COSM937380 c.1474C>A p.L492M Substitution - Missense 12:132848656-132848656 - 587376 COSM1201040 c.726T>G p.F242L Substitution - Missense 12:132861528-132861528 - MO_1013 COSM5567662 c.614G>C p.S205T Substitution - Missense 12:132869624-132869624 - CSCC-29-T COSM4554654 c.504G>A p.G168G Substitution - coding silent 12:132861627-132861627 - CSCC-56-T COSM4533399 c.1854G>A p.Q618Q Substitution - coding silent 12:132841572-132841572 - SC_9076 COSM5561972 c.618C>G p.P206P Substitution - coding silent 12:132861513-132861513 - TCGA-D1-A0ZO-01 COSM937384 c.846G>A p.T282T Substitution - coding silent 12:132857538-132857538 - J30_T COSM3954458 c.681G>C p.L227L Substitution - coding silent 12:132859211-132859211 - TCGA-18-3409-01 COSM1146959 c.848C>T p.T283I Substitution - Missense 12:132859167-132859167 - 2521243 COSM5886767 c.1508C>T p.P503L Substitution - Missense 12:132851638-132851638 - ESO-805 COSM1248234 c.1665C>T p.Y555Y Substitution - coding silent 12:132848103-132848103 - B87-Tumor COSM415938 c.1399C>T p.Q467* Substitution - Nonsense 12:132851624-132851624 - B59-3 COSM1746858 c.1837A>C p.T613P Substitution - Missense 12:132844069-132844069 - ESCC_170 COSM5649174 c.975T>C p.H325H Substitution - coding silent 12:132857409-132857409 - TCGA-BR-6452-01 COSM4040482 c.1012A>G p.M338V Substitution - Missense 12:132856598-132856598 - TCGA-EE-A3JD-06 COSM4395980 c.1843A>T p.I615F Substitution - Missense 12:132841583-132841583 - Gp2D COSM4627015 c.776A>G p.K259R Substitution - Missense 12:132861478-132861478 - TCGA-FW-A3R5-06 COSM3871139 c.1511G>C p.R504P Substitution - Missense 12:132851635-132851635 - Gp2D COSM4627016 c.653A>G p.K218R Substitution - Missense 12:132861478-132861478 - TCGA-AP-A0LM-01 COSM1586311 c.1925G>A p.R642H Substitution - Missense 12:132843038-132843038 - HCT116 COSM4632031 c.537A>G p.T179T Substitution - coding silent 12:132869701-132869701 - SNUH_G16_S1 COSM3998713 c.1490C>G p.A497G Substitution - Missense 12:132851656-132851656 - TCGA-FJ-A3Z7-01 COSM3792388 c.1836G>T p.L612L Substitution - coding silent 12:132844070-132844070 - TCGA-F5-6814-01 COSM3416658 c.1561-1G>T p.? Unknown 12:132847131-132847131 - HCC30 COSM1605853 c.1061G>T p.R354M Substitution - Missense 12:132856549-132856549 - 8015299 COSM3772346 c.609G>A p.S203S Substitution - coding silent 12:132861522-132861522 - TCGA-B0-5119-01 COSM1135336 c.937G>A p.D313N Substitution - Missense 12:132859078-132859078 - TCGA-D1-A17D-01 COSM1152484 c.1403C>T p.T468M Substitution - Missense 12:132853436-132853436 - sysucc-1370T COSM5469933 c.36G>A p.P12P Substitution - coding silent 12:132887293-132887293 - VACO4S COSM4657108 c.1342G>A p.E448K Substitution - Missense 12:132853497-132853497 - YUKAT COSM5374704 c.1375G>A p.D459N Substitution - Missense 12:132853464-132853464 - QC2-25-T2 COSM5653333 c.492G>A p.S164S Substitution - coding silent 12:132869746-132869746 - TCGA-B0-4841-01 COSM3359636 c.150C>G p.F50L Substitution - Missense 12:132877638-132877638 - H358 COSM1194099 c.707C>T p.P236L Substitution - Missense 12:132859185-132859185 - 11 COSM1135336 c.937G>A p.D313N Substitution - Missense 12:132859078-132859078 - CN-AML-NR-08-Dx COSM1180449 c.1367C>T p.A456V Substitution - Missense 12:132851656-132851656 - TCGA-DM-A1DA-01 COSM3753072 c.413C>T p.P138L Substitution - Missense 12:132862416-132862416 - CSCC-47-T COSM4561755 c.775G>A p.E259K Substitution - Missense 12:132859117-132859117 - CSCC-56-T COSM4533398 c.1977G>A p.Q659Q Substitution - coding silent 12:132841572-132841572 - MD-045 COSM301938 c.1385C>T p.P462L Substitution - Missense 12:132851638-132851638 - LUAD-S01354 COSM385844 c.619C>T p.Q207* Substitution - Nonsense 12:132861512-132861512 - Pat_46_B COSM5840617 c.497-1G>A p.? Unknown 12:132861635-132861635 - TCGA-DA-A1I7-06 COSM3458422 c.279G>A p.Q93Q Substitution - coding silent 12:132872349-132872349 - Pat_46_B COSM5840619 c.296C>T p.T99I Substitution - Missense 12:132872332-132872332 - TCGA-EE-A3JD-06 COSM4395979 c.1966A>T p.I656F Substitution - Missense 12:132841583-132841583 - SA071 COSM213247 c.949C>G p.L317V Substitution - Missense 12:132857435-132857435 - TCGA-AP-A059-01 COSM937388 c.564C>A p.A188A Substitution - coding silent 12:132869674-132869674 - Pat_59_B COSM5840621 c.233+1G>A p.? Unknown 12:132877554-132877554 - CSCC-29-T COSM4554653 c.627G>A p.G209G Substitution - coding silent 12:132861627-132861627 - TCGA-FD-A3B6-01 COSM1299174 c.1138G>C p.D380H Substitution - Missense 12:132856595-132856595 - TCGA-B5-A11Y-01 COSM1586307 c.703C>A p.P235T Substitution - Missense 12:132861551-132861551 - 8031157 COSM3688106 c.1914C>T p.G638G Substitution - coding silent 12:132843049-132843049 - TCGA-BR-8363-01 COSM4040484 c.813C>T p.H271H Substitution - coding silent 12:132859079-132859079 - CSCC-44-T COSM4507229 c.740C>T p.P247L Substitution - Missense 12:132861514-132861514 - T3446 COSM4672138 c.1373G>A p.R458H Substitution - Missense 12:132851650-132851650 - ESCC_BICR_008T COSM5428797 c.1111T>C p.S371P Substitution - Missense 12:132856499-132856499 - CML044T COSM5802895 c.1067A>G p.N356S Substitution - Missense 12:132857440-132857440 - TCGA-RP-A695-06 COSM4507230 c.617C>T p.P206L Substitution - Missense 12:132861514-132861514 - TCGA-D8-A27G-01 COSM3811561 c.517G>A p.E173K Substitution - Missense 12:132869721-132869721 - CCK81 COSM4620656 c.1532C>T p.A511V Substitution - Missense 12:132848721-132848721 - B87 COSM415938 c.1399C>T p.Q467* Substitution - Nonsense 12:132851624-132851624 - LS180 COSM4645840 c.1163G>A p.R388Q Substitution - Missense 12:132853553-132853553 - TCGA-CA-6717-01 COSM1360317 c.1190C>A p.S397Y Substitution - Missense 12:132856543-132856543 - TCGA-DK-A1A3-01 COSM415938 c.1399C>T p.Q467* Substitution - Nonsense 12:132851624-132851624 - LS180 COSM4645839 c.1286G>A p.R429Q Substitution - Missense 12:132853553-132853553 - TCGA-BR-8384-01 COSM4040485 c.886G>C p.D296H Substitution - Missense 12:132859129-132859129 - H650 COSM1194328 c.1465T>A p.Y489N Substitution - Missense 12:132848665-132848665 - PT35 COSM5913356 c.1214C>T p.S405L Substitution - Missense 12:132856519-132856519 - VACO4S COSM4657109 c.1219G>A p.E407K Substitution - Missense 12:132853497-132853497 - B59-3 COSM1746859 c.1714A>C p.T572P Substitution - Missense 12:132844069-132844069 - CCK81 COSM2002303 c.709C>T p.R237C Substitution - Missense 12:132859183-132859183 - sysucc-1370T COSM5469934 c.36G>A p.P12P Substitution - coding silent 12:132887293-132887293 - ESCC_BICR_008T COSM5428796 c.1234T>C p.S412P Substitution - Missense 12:132856499-132856499 - TCGA-B5-A11Y-01 COSM937387 c.580C>A p.P194T Substitution - Missense 12:132861551-132861551 - TCGA-DM-A28F-01 COSM1360320 c.289_290delTT p.L97fs*14 Deletion - Frameshift 12:132872338-132872339 - ESCC_170 COSM5649171 c.1101A>G p.P367P Substitution - coding silent 12:132857406-132857406 - 2530678 COSM5885390 c.788-2A>G p.? Unknown 12:132859229-132859229 - TCGA-18-4721-01 COSM693106 c.727G>A p.V243I Substitution - Missense 12:132859165-132859165 - TCGA-CD-5801-01 COSM4040477 c.1236A>G p.S412S Substitution - coding silent 12:132856497-132856497 - TCGA-H4-A2HQ-01 COSM1299172 c.1491_1492GG>AC p.E498Q Substitution - Missense 12:132851654-132851655 - CSCC-10-T COSM4476459 c.206C>T p.S69L Substitution - Missense 12:132877582-132877582 - 2530678 COSM5885391 c.665-2A>G p.? Unknown 12:132859229-132859229 - TCGA-F5-6814-01 COSM3416657 c.1684-1G>T p.? Unknown 12:132847131-132847131 - SW48 COSM4656143 c.130C>T p.R44* Substitution - Nonsense 12:132887199-132887199 - TCGA-B0-4841-01 COSM3359637 c.150C>G p.F50L Substitution - Missense 12:132877638-132877638 - 2530678 COSM5885389 c.666T>C p.D222D Substitution - coding silent 12:132859226-132859226 - TCGA-HU-A4G8-01 COSM4040473 c.1912G>A p.G638S Substitution - Missense 12:132843051-132843051 - TCGA-RP-A695-06 COSM4507229 c.740C>T p.P247L Substitution - Missense 12:132861514-132861514 - TCGA-HU-A4H8-01 COSM2002269 c.1509G>A p.P503P Substitution - coding silent 12:132851637-132851637 - TCGA-DG-A2KL-01 COSM4851323 c.206C>G p.S69* Substitution - Nonsense 12:132877582-132877582 - H650 COSM1194327 c.1588T>A p.Y530N Substitution - Missense 12:132848665-132848665 - TCGA-EE-A2MS-06 COSM3458418 c.728C>T p.S243L Substitution - Missense 12:132861526-132861526 - B87-Tumor COSM1133388 c.1522C>T p.Q508* Substitution - Nonsense 12:132851624-132851624 - 587350 COSM1201039 c.1756G>T p.V586L Substitution - Missense 12:132844027-132844027 - BCM325T COSM4798970 c.1537A>T p.S513C Substitution - Missense 12:132848108-132848108 - TCGA-B0-5119-01 COSM468058 c.814G>A p.D272N Substitution - Missense 12:132859078-132859078 - 8015299 COSM3772345 c.732G>A p.S244S Substitution - coding silent 12:132861522-132861522 - TCGA-B2-5633-01 COSM468059 c.209G>A p.G70D Substitution - Missense 12:132877579-132877579 - TCGA-EE-A29D-06 COSM3458414 c.1072C>T p.L358F Substitution - Missense 12:132857435-132857435 - C467 COSM4040490 c.596C>T p.A199V Substitution - Missense 12:132861535-132861535 - HCC30T COSM1605853 c.1061G>T p.R354M Substitution - Missense 12:132856549-132856549 - TCGA-D9-A1JW-06 COSM3458410 c.1368C>T p.A456A Substitution - coding silent 12:132853471-132853471 - TCGA-BR-8384-01 COSM4040486 c.763G>C p.D255H Substitution - Missense 12:132859129-132859129 - SWE-55A COSM1180448 c.1490C>T p.A497V Substitution - Missense 12:132851656-132851656 - S02403 COSM5700357 c.1369G>T p.E457* Substitution - Nonsense 12:132851654-132851654 - TCGA-BR-6452-01 COSM4040481 c.1135A>G p.M379V Substitution - Missense 12:132856598-132856598 - TCGA-HU-A4GX-01 COSM4040475 c.1516G>A p.A506T Substitution - Missense 12:132851630-132851630 - C467 COSM4040489 c.719C>T p.A240V Substitution - Missense 12:132861535-132861535 - 18 COSM5745179 c.1591G>A p.G531S Substitution - Missense 12:132848662-132848662 - BCM325T COSM4798969 c.1660A>T p.S554C Substitution - Missense 12:132848108-132848108 - TCGA-D1-A0ZO-01 COSM1152485 c.969G>A p.T323T Substitution - coding silent 12:132857538-132857538 - TCGA-EE-A29D-06 COSM3458416 c.1062C>T p.I354I Substitution - coding silent 12:132857445-132857445 - TCGA-FW-A3R5-06 COSM3871140 c.1388G>C p.R463P Substitution - Missense 12:132851635-132851635 - CSCC-47-T COSM4525961 c.1242G>A p.Q414Q Substitution - coding silent 12:132853474-132853474 - TCGA-HU-A4GX-01 COSM4040476 c.1393G>A p.A465T Substitution - Missense 12:132851630-132851630 - TCGA-IR-A3LH-01 COSM4832508 c.572C>T p.S191F Substitution - Missense 12:132869666-132869666 - CCK81 COSM2002284 c.1187G>A p.R396Q Substitution - Missense 12:132856546-132856546 - T3446 COSM4672137 c.1496G>A p.R499H Substitution - Missense 12:132851650-132851650 - SNUH_G76_S1 COSM1180449 c.1367C>T p.A456V Substitution - Missense 12:132851656-132851656 - TCGA-FD-A3B6-01 COSM1299175 c.1015G>C p.D339H Substitution - Missense 12:132856595-132856595 - TCGA-D9-A1JW-06 COSM3458411 c.1245C>T p.A415A Substitution - coding silent 12:132853471-132853471 - HCC30 COSM1605852 c.1184G>T p.R395M Substitution - Missense 12:132856549-132856549 - ESCC_130 COSM1194098 c.830C>T p.P277L Substitution - Missense 12:132859185-132859185 - MZ7-mel COSM27190 c.1458_1459insAACTGCTAC p.T486_G487insNCY Insertion - In frame 12:132848671-132848672 - SC_9076 COSM5561971 c.741C>G p.P247P Substitution - coding silent 12:132861513-132861513 - SJHGG034_D COSM4970316 c.738C>T p.D246D Substitution - coding silent 12:132859154-132859154 - OSCC-GB_01050111 COSM4889855 c.1508C>A p.P503Q Substitution - Missense 12:132851638-132851638 - OSCC-GB_01290111 COSM4657108 c.1342G>A p.E448K Substitution - Missense 12:132853497-132853497 - STC232 COSM5051472 c.975C>T p.C325C Substitution - coding silent 12:132857532-132857532 - LUAD-S01478 COSM404677 c.146C>T p.S49F Substitution - Missense 12:132877642-132877642 - CN-AML-08-T COSM1180449 c.1367C>T p.A456V Substitution - Missense 12:132851656-132851656 - 587376 COSM1201041 c.603T>G p.F201L Substitution - Missense 12:132861528-132861528 - 18 COSM5745180 c.1468G>A p.G490S Substitution - Missense 12:132848662-132848662 - sysucc-1370T COSM5469931 c.1590C>T p.Y530Y Substitution - coding silent 12:132848663-132848663 - HX24T COSM3703979 c.1875G>T p.L625F Substitution - Missense 12:132844031-132844031 - TCGA-AX-A06H-01 COSM937386 c.642C>T p.P214P Substitution - coding silent 12:132861489-132861489 - TCGA-22-0944-01 COSM692159 c.1812G>A p.V604V Substitution - coding silent 12:132843028-132843028 - 8053200 COSM3384191 c.1375G>A p.E459K Substitution - Missense 12:132851648-132851648 - HCC30T COSM1605852 c.1184G>T p.R395M Substitution - Missense 12:132856549-132856549 - TCGA-DA-A1I7-06 COSM3458423 c.279G>A p.Q93Q Substitution - coding silent 12:132872349-132872349 - TCGA-22-0944-01 COSM1146956 c.1935G>A p.V645V Substitution - coding silent 12:132843028-132843028 - TCGA-AM-5820-01 COSM3688107 c.1791C>T p.G597G Substitution - coding silent 12:132843049-132843049 - Pat_44_B COSM5840615 c.640C>T p.P214S Substitution - Missense 12:132861491-132861491 - 587350 COSM1201038 c.1879G>T p.V627L Substitution - Missense 12:132844027-132844027 - CML044T COSM5802896 c.944A>G p.N315S Substitution - Missense 12:132857440-132857440 - TCGA-D1-A17D-01 COSM937382 c.1280C>T p.T427M Substitution - Missense 12:132853436-132853436 - PT16_1 COSM3458419 c.605C>T p.S202L Substitution - Missense 12:132861526-132861526 - CSCC-37-T COSM3458418 c.728C>T p.S243L Substitution - Missense 12:132861526-132861526 - C547 COSM4442352 c.1093C>T p.Q365* Substitution - Nonsense 12:132857414-132857414 - CSCC-47-T COSM4561754 c.898G>A p.E300K Substitution - Missense 12:132859117-132859117 - TCGA-EE-A29D-06 COSM3458417 c.939C>T p.I313I Substitution - coding silent 12:132857445-132857445 - TCGA-AX-A06H-01 COSM1152486 c.765C>T p.P255P Substitution - coding silent 12:132861489-132861489 - H358 COSM1194098 c.830C>T p.P277L Substitution - Missense 12:132859185-132859185 - ESCC_153 COSM5645626 c.988C>T p.R330C Substitution - Missense 12:132856622-132856622 - T2940 COSM4672141 c.1112G>A p.R371H Substitution - Missense 12:132856621-132856621 - ESCC_153 COSM5645625 c.1111C>T p.R371C Substitution - Missense 12:132856622-132856622 - CSCC-37-T COSM3458419 c.605C>T p.S202L Substitution - Missense 12:132861526-132861526 - LUAD-S01356 COSM404430 c.1710G>T p.E570D Substitution - Missense 12:132844073-132844073 - 255 COSM3732227 c.1356C>T p.P452P Substitution - coding silent 12:132851667-132851667 - ESCC_158 COSM5646632 c.114G>A p.W38* Substitution - Nonsense 12:132887215-132887215 - Pat_46_B COSM5840616 c.620-1G>A p.? Unknown 12:132861635-132861635 - S02403 COSM5700356 c.1492G>T p.E498* Substitution - Nonsense 12:132851654-132851654 - YUKAT COSM5374705 c.1252G>A p.D418N Substitution - Missense 12:132853464-132853464 - ESO-805 COSM1248235 c.1542C>T p.Y514Y Substitution - coding silent 12:132848103-132848103 - TCGA-EE-A2MT-06 COSM3458413 c.951C>T p.L317L Substitution - coding silent 12:132857433-132857433 - SWE-55A COSM1180449 c.1367C>T p.A456V Substitution - Missense 12:132851656-132851656 - BCM325T COSM4798970 c.1537A>T p.S513C Substitution - Missense 12:132848108-132848108 - SNUH_G76_S1 COSM4416889 c.1582T>C p.L528L Substitution - coding silent 12:132847109-132847109 - sysucc-783T COSM5483737 c.1801C>T p.R601C Substitution - Missense 12:132843039-132843039 - TCGA-AZ-6598-01 COSM1360315 c.1347C>T p.G449G Substitution - coding silent 12:132853492-132853492 - 2290929 COSM4440316 c.1469G>A p.G490D Substitution - Missense 12:132848661-132848661 - ESO-0292 COSM1241007 c.1148A>G p.N383S Substitution - Missense 12:132856585-132856585 - TCGA-FJ-A3Z7-01 COSM3792389 c.1713G>T p.L571L Substitution - coding silent 12:132844070-132844070 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.720197 12q24.33 605209

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.619+3916T>C 12 133442289 CLL C A Missense p.A117S c.349G>T 12 133447364 LUAD C A Missense p.A292S c.874G>T 12 133435727 LUSC C A Missense p.D252Y c.754G>T 12 133438086 LUAD CC AA Missense p.E410* c.1227_1228delinsTT 12 133433091 BLCA CC GT Missense p.E498Q c.1491_1492delinsAC 12 133428240 BLCA C G Missense p.D380H c.1138G>C 12 133433181 BLCA C G Missense p.E624Q c.1870G>C 12 133420622 LUAD C T IntronicSNV . c.1529-804G>A 12 133426114 HC C T Missense p.D296N c.886G>A 12 133435715 HNSC C T Missense p.D313N c.937G>A 12 133435664 RCCC C T Missense p.G70D c.209G>A 12 133454165 RCCC C T Missense p.V284I c.850G>A 12 133435751 LUSC C T Synonymous p.L541L c.1623G>A 12 133424731 CM C T Synonymous p.P503P c.1509G>A 12 133428223 PRAD C T Synonymous p.Q93Q c.279G>A 12 133448935 CM C T Synonymous p.T323T c.969G>A 12 133434124 UCEC C T Synonymous p.V645V c.1935G>A 12 133419614 LUSC G A 3-UTRSNV . c.1992+91C>T 12 133418052 CM G A Missense p.R343C c.1027C>T 12 133434066 LUAD G A Missense p.S243L c.728C>T 12 133438112 CM G A Missense p.T468M c.1403C>T 12 133430022 UCEC G A Nonsense p.Q490* c.1468C>T 12 133428264 HNSC G A Nonsense p.Q508* c.1522C>T 12 133428210 BLCA G A Synonymous p.A456A c.1368C>T 12 133430057 CM G A Synonymous p.F609F c.1827C>T 12 133420665 CM G A Synonymous p.L358L c.1074C>T 12 133434019 CM G A Synonymous p.P255P c.765C>T 12 133438075 UCEC G A Synonymous p.Y555Y c.1665C>T 12 133424689 ESCA G C Missense p.F50L c.150C>G 12 133454224 RCCC G C Missense p.L358V c.1072C>G 12 133434021 BRCA G C Missense p.L546V c.1636C>G 12 133424718 LGG G C Nonsense p.S419* c.1256C>G 12 133433063 HNSC GG AA Missense p.P255L c.764_765delinsTT 12 133438075 CM G T Missense p.P235T c.703C>A 12 133438137 UCEC G T Synonymous p.P392P c.1176C>A 12 133433143 CM T A IntronicSNV . c.947+309A>T 12 133435345 CLL T A Missense p.I656F c.1966A>T 12 133418169 CM T C Synonymous p.S419S c.1257A>G 12 133433062 CM