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 121746393 121746393 + Missense_Mutation SNP G G A TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 g.chr12:121746393G>A c.2158C>T c.(2158-2160)Ctc>Ttc p.L720F BLCA 12 121757561 121757561 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr12:121757561G>A c.1576C>T c.(1576-1578)Cat>Tat p.H526Y BLCA 12 121757577 121757577 + Missense_Mutation SNP C C G TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr12:121757577C>G c.1560G>C c.(1558-1560)atG>atC p.M520I BLCA 12 121758210 121758210 + Missense_Mutation SNP G G A TCGA-FD-A62N-01A-11D-A30E-08 TCGA-FD-A62N-10A-01D-A30H-08 g.chr12:121758210G>A c.1493C>T c.(1492-1494)cCg>cTg p.P498L BLCA 12 121768387 121768387 + Splice_Site SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr12:121768387G>A c.1121C>T c.(1120-1122)cCg>cTg p.P374L BLCA 12 121768444 121768444 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:121768444G>A c.1064C>T c.(1063-1065)tCc>tTc p.S355F BLCA 12 121773363 121773363 + Missense_Mutation SNP G G A TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr12:121773363G>A c.923C>T c.(922-924)gCc>gTc p.A308V BLCA 12 121773386 121773386 + Missense_Mutation SNP C C G TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr12:121773386C>G c.900G>C c.(898-900)ttG>ttC p.L300F BLCA 12 121779868 121779868 + Nonsense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr12:121779868C>A c.595G>T c.(595-597)Gag>Tag p.E199* BLCA 12 121783661 121783661 + Nonsense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr12:121783661C>A c.571G>T c.(571-573)Gaa>Taa p.E191* BLCA 12 121784699 121784699 + Splice_Site SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr12:121784699C>T c.397G>A c.(397-399)Ggt>Agt p.G133S BLCA 12 121789986 121789986 + Missense_Mutation SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr12:121789986C>T c.158G>A c.(157-159)aGc>aAc p.S53N BRCA 12 121746349 121746349 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr12:121746349C>T c.2202G>A c.(2200-2202)gcG>gcA p.A734A BRCA 12 121746366 121746366 + Nonsense_Mutation SNP C C A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 g.chr12:121746366C>A c.2185G>T c.(2185-2187)Gag>Tag p.E729* BRCA 12 121747576 121747576 + Missense_Mutation SNP G G A TCGA-AR-A1AI-01A-11D-A12Q-09 TCGA-AR-A1AI-10A-01D-A12Q-09 g.chr12:121747576G>A c.1984C>T c.(1984-1986)Cgt>Tgt p.R662C BRCA 12 121757513 121757513 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 g.chr12:121757513C>G c.1624G>C c.(1624-1626)Gag>Cag p.E542Q BRCA 12 121775176 121775176 + Missense_Mutation SNP T T A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 g.chr12:121775176T>A c.677A>T c.(676-678)gAt>gTt p.D226V BRCA 12 121785621 121785621 + Missense_Mutation SNP T T C TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr12:121785621T>C c.271A>G c.(271-273)Aat>Gat p.N91D CESC 12 121757584 121757584 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:121757584C>G c.1553G>C c.(1552-1554)aGa>aCa p.R518T COAD 12 121746350 121746350 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:121746350G>A c.2201C>T c.(2200-2202)gCg>gTg p.A734V COAD 12 121756398 121756398 + Silent SNP A A G TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr12:121756398A>G c.1651T>C c.(1651-1653)Tta>Cta p.L551L COAD 12 121757507 121757507 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:121757507C>T c.1630G>A c.(1630-1632)Gtt>Att p.V544I COAD 12 121757587 121757587 + Missense_Mutation SNP T T C TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr12:121757587T>C c.1550A>G c.(1549-1551)gAc>gGc p.D517G COAD 12 121764935 121764935 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:121764935G>A c.1404C>T c.(1402-1404)gtC>gtT p.V468V COAD 12 121768434 121768434 + Silent SNP A A G TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr12:121768434A>G c.1074T>C c.(1072-1074)taT>taC p.Y358Y COAD 12 121768435 121768435 + Missense_Mutation SNP T T C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr12:121768435T>C c.1073A>G c.(1072-1074)tAt>tGt p.Y358C COAD 12 121773428 121773428 + Silent SNP G G C TCGA-AA-3526-01A-02W-0831-10 TCGA-AA-3526-10A-01W-0831-10 g.chr12:121773428G>C c.858C>G c.(856-858)gcC>gcG p.A286A COAD 12 121773516 121773516 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:121773516C>T c.770G>A c.(769-771)aGc>aAc p.S257N COADREAD 12 121746350 121746350 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:121746350G>A c.2201C>T c.(2200-2202)gCg>gTg p.A734V COADREAD 12 121756398 121756398 + Silent SNP A A G TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr12:121756398A>G c.1651T>C c.(1651-1653)Tta>Cta p.L551L COADREAD 12 121757507 121757507 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:121757507C>T c.1630G>A c.(1630-1632)Gtt>Att p.V544I COADREAD 12 121757587 121757587 + Missense_Mutation SNP T T C TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr12:121757587T>C c.1550A>G c.(1549-1551)gAc>gGc p.D517G COADREAD 12 121764935 121764935 + Silent SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:121764935G>A c.1404C>T c.(1402-1404)gtC>gtT p.V468V COADREAD 12 121766193 121766193 + Nonsense_Mutation SNP C C T TCGA-AG-3727-01A-01W-0899-10 TCGA-AG-3727-10A-01W-0901-10 g.chr12:121766193C>T c.1230G>A c.(1228-1230)tgG>tgA p.W410* COADREAD 12 121768434 121768434 + Silent SNP A A G TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr12:121768434A>G c.1074T>C c.(1072-1074)taT>taC p.Y358Y COADREAD 12 121768435 121768435 + Missense_Mutation SNP T T C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr12:121768435T>C c.1073A>G c.(1072-1074)tAt>tGt p.Y358C COADREAD 12 121773428 121773428 + Silent SNP G G C TCGA-AA-3526-01A-02W-0831-10 TCGA-AA-3526-10A-01W-0831-10 g.chr12:121773428G>C c.858C>G c.(856-858)gcC>gcG p.A286A COADREAD 12 121773516 121773516 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:121773516C>T c.770G>A c.(769-771)aGc>aAc p.S257N COADREAD 12 121789949 121789949 + Silent SNP C C T TCGA-AG-A032-01A-01W-A00E-09 TCGA-AG-A032-10A-01W-A00E-09 g.chr12:121789949C>T c.195G>A c.(193-195)ctG>ctA p.L65L ESCA 12 121775130 121775130 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr12:121775130G>T c.723C>A c.(721-723)aaC>aaA p.N241K ESCA 12 121775156 121775156 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr12:121775156G>T c.697C>A c.(697-699)Cca>Aca p.P233T ESCA 12 121783796 121783796 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 g.chr12:121783796G>T c.436C>A c.(436-438)Ctt>Att p.L146I ESCA 12 121790048 121790048 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 g.chr12:121790048C>T c.96G>A c.(94-96)ccG>ccA p.P32P GBMLGG 12 121746350 121746350 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121746350G>A c.2201C>T c.(2200-2202)gCg>gTg p.A734V GBMLGG 12 121756220 121756220 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121756220G>A c.1753C>T c.(1753-1755)Ctg>Ttg p.L585L GBMLGG 12 121766164 121766164 + Missense_Mutation SNP A A G TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 g.chr12:121766164A>G c.1259T>C c.(1258-1260)aTc>aCc p.I420T GBMLGG 12 121769171 121769171 + Silent SNP G G A TCGA-HT-7467-01A-11D-2024-08 TCGA-HT-7467-10A-01D-2024-08 g.chr12:121769171G>A c.1011C>T c.(1009-1011)caC>caT p.H337H GBMLGG 12 121773353 121773353 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121773353G>A c.933C>T c.(931-933)caC>caT p.H311H GBMLGG 12 121775117 121775117 + Missense_Mutation SNP A A T TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr12:121775117A>T c.736T>A c.(736-738)Ttt>Att p.F246I GBMLGG 12 121783770 121783770 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121783770C>T c.462G>A c.(460-462)ctG>ctA p.L154L GBMLGG 12 121784789 121784789 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121784789C>A c.307G>T c.(307-309)Ggc>Tgc p.G103C GBMLGG 12 121790075 121790075 + Silent SNP C C G TCGA-HT-8563-01A-11D-2395-08 TCGA-HT-8563-10A-01D-2396-08 g.chr12:121790075C>G c.69G>C c.(67-69)gtG>gtC p.V23V HNSC 12 121756175 121756175 + Missense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr12:121756175C>T c.1798G>A c.(1798-1800)Gcg>Acg p.A600T KIPAN 12 121746455 121746458 + Frame_Shift_Del DEL TTCT TTCT - TCGA-B3-3925-01A-01D-1458-08 TCGA-B3-3925-10A-01D-1458-08 g.chr12:121746455_121746458delTTCT c.2093_2096delAGAA c.(2092-2097)aagaacfs p.KN698fs KIPAN 12 121747554 121747554 + Missense_Mutation SNP T T C TCGA-SX-A7SR-01A-12D-A35Z-10 TCGA-SX-A7SR-10A-01D-A35Z-10 g.chr12:121747554T>C c.2006A>G c.(2005-2007)aAg>aGg p.K669R KIPAN 12 121758187 121758187 + Splice_Site SNP C C A TCGA-B0-5110-01A-01D-1421-08 TCGA-B0-5110-11A-01D-1421-08 g.chr12:121758187C>A c.e12+1 KIPAN 12 121766167 121766168 + Missense_Mutation DNP TC TC CA TCGA-J7-8537-01A-11D-2396-08 TCGA-J7-8537-10A-01D-2396-08 g.chr12:121766167_121766168TC>CA c.1255_1256GA>TG c.(1255-1257)GAt>TGt p.D419C KIRC 12 121758187 121758187 + Splice_Site SNP C C A TCGA-B0-5110-01A-01D-1421-08 TCGA-B0-5110-11A-01D-1421-08 g.chr12:121758187C>A c.e12+1 KIRP 12 121746455 121746458 + Frame_Shift_Del DEL TTCT TTCT - TCGA-B3-3925-01A-01D-1458-08 TCGA-B3-3925-10A-01D-1458-08 g.chr12:121746455_121746458delTTCT c.2093_2096delAGAA c.(2092-2097)aagaacfs p.KN698fs KIRP 12 121747554 121747554 + Missense_Mutation SNP T T C TCGA-SX-A7SR-01A-12D-A35Z-10 TCGA-SX-A7SR-10A-01D-A35Z-10 g.chr12:121747554T>C c.2006A>G c.(2005-2007)aAg>aGg p.K669R KIRP 12 121766167 121766168 + Missense_Mutation DNP TC TC CA TCGA-J7-8537-01A-11D-2396-08 TCGA-J7-8537-10A-01D-2396-08 g.chr12:121766167_121766168TC>CA c.1255_1256GA>TG c.(1255-1257)GAt>TGt p.D419C LGG 12 121746350 121746350 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121746350G>A c.2201C>T c.(2200-2202)gCg>gTg p.A734V LGG 12 121756220 121756220 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121756220G>A c.1753C>T c.(1753-1755)Ctg>Ttg p.L585L LGG 12 121766164 121766164 + Missense_Mutation SNP A A G TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 g.chr12:121766164A>G c.1259T>C c.(1258-1260)aTc>aCc p.I420T LGG 12 121769171 121769171 + Silent SNP G G A TCGA-HT-7467-01A-11D-2024-08 TCGA-HT-7467-10A-01D-2024-08 g.chr12:121769171G>A c.1011C>T c.(1009-1011)caC>caT p.H337H LGG 12 121773353 121773353 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121773353G>A c.933C>T c.(931-933)caC>caT p.H311H LGG 12 121775117 121775117 + Missense_Mutation SNP A A T TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr12:121775117A>T c.736T>A c.(736-738)Ttt>Att p.F246I LGG 12 121783770 121783770 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121783770C>T c.462G>A c.(460-462)ctG>ctA p.L154L LGG 12 121784789 121784789 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121784789C>A c.307G>T c.(307-309)Ggc>Tgc p.G103C LGG 12 121790075 121790075 + Silent SNP C C G TCGA-HT-8563-01A-11D-2395-08 TCGA-HT-8563-10A-01D-2396-08 g.chr12:121790075C>G c.69G>C c.(67-69)gtG>gtC p.V23V LIHC 12 121746389 121746389 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr12:121746389T>C c.2162A>G c.(2161-2163)tAc>tGc p.Y721C LUAD 12 121746298 121746298 + Missense_Mutation SNP C C G TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr12:121746298C>G c.2253G>C c.(2251-2253)ttG>ttC p.L751F LUAD 12 121746477 121746477 + Nonsense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr12:121746477C>A c.2074G>T c.(2074-2076)Gag>Tag p.E692* LUAD 12 121747580 121747580 + Silent SNP T T C TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr12:121747580T>C c.1980A>G c.(1978-1980)aaA>aaG p.K660K LUAD 12 121747584 121747584 + Missense_Mutation SNP T T C TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr12:121747584T>C c.1976A>G c.(1975-1977)gAc>gGc p.D659G LUAD 12 121758194 121758194 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr12:121758194G>A c.1509C>T c.(1507-1509)caC>caT p.H503H LUAD 12 121764982 121764982 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr12:121764982C>A c.1357G>T c.(1357-1359)Gcg>Tcg p.A453S LUAD 12 121766213 121766213 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr12:121766213C>G c.1210G>C c.(1210-1212)Gac>Cac p.D404H LUAD 12 121766252 121766252 + Missense_Mutation SNP C C A TCGA-86-8671-01A-11D-2393-08 TCGA-86-8671-10A-01D-2393-08 g.chr12:121766252C>A c.1171G>T c.(1171-1173)Gct>Tct p.A391S LUAD 12 121773445 121773445 + Silent SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr12:121773445G>A c.841C>T c.(841-843)Ctg>Ttg p.L281L LUAD 12 121775093 121775093 + Splice_Site SNP C C A TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr12:121775093C>A c.e6+1 LUAD 12 121784752 121784752 + Missense_Mutation SNP A A G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr12:121784752A>G c.344T>C c.(343-345)cTt>cCt p.L115P LUSC 12 121746350 121746350 + Missense_Mutation SNP G G A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr12:121746350G>A c.2201C>T c.(2200-2202)gCg>gTg p.A734V LUSC 12 121766123 121766123 + Missense_Mutation SNP G G A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr12:121766123G>A c.1300C>T c.(1300-1302)Cgc>Tgc p.R434C LUSC 12 121773465 121773465 + Missense_Mutation SNP A A G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr12:121773465A>G c.821T>C c.(820-822)cTc>cCc p.L274P LUSC 12 121775156 121775156 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr12:121775156G>T c.697C>A c.(697-699)Cca>Aca p.P233T LUSC 12 121789999 121789999 + Nonsense_Mutation SNP C C A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr12:121789999C>A c.145G>T c.(145-147)Gag>Tag p.E49* OV 12 121758249 121758250 + Missense_Mutation DNP GC GC AT TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 g.chr12:121758249_121758250GC>AT c.1453_1454GC>AT c.(1453-1455)GCa>ATa p.A485I OV 12 121773425 121773425 + Silent SNP T T C TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 g.chr12:121773425T>C c.861A>G c.(859-861)gaA>gaG p.E287E PAAD 12 121746318 121746318 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121746318G>A c.2233C>T c.(2233-2235)Ccc>Tcc p.P745S PAAD 12 121746425 121746425 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 g.chr12:121746425C>T c.2126G>A c.(2125-2127)cGc>cAc p.R709H PAAD 12 121757499 121757499 + Splice_Site SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121757499C>A c.e13+1 PAAD 12 121758243 121758243 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121758243G>T c.1460C>A c.(1459-1461)tCt>tAt p.S487Y PAAD 12 121773451 121773451 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr12:121773451C>A c.835G>T c.(835-837)Gat>Tat p.D279Y PAAD 12 121783678 121783678 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121783678C>A c.554G>T c.(553-555)aGa>aTa p.R185I PRAD 12 121746472 121746472 + Missense_Mutation SNP G G T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 g.chr12:121746472G>T c.2079C>A c.(2077-2079)aaC>aaA p.N693K PRAD 12 121747516 121747516 + Missense_Mutation SNP T T G TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr12:121747516T>G c.2044A>C c.(2044-2046)Aag>Cag p.K682Q PRAD 12 121766164 121766164 + Missense_Mutation SNP A A G TCGA-G9-6339-01A-12D-A30X-08 TCGA-G9-6339-10A-01D-A30X-08 g.chr12:121766164A>G c.1259T>C c.(1258-1260)aTc>aCc p.I420T READ 12 121766193 121766193 + Nonsense_Mutation SNP C C T TCGA-AG-3727-01A-01W-0899-10 TCGA-AG-3727-10A-01W-0901-10 g.chr12:121766193C>T c.1230G>A c.(1228-1230)tgG>tgA p.W410* READ 12 121789949 121789949 + Silent SNP C C T TCGA-AG-A032-01A-01W-A00E-09 TCGA-AG-A032-10A-01W-A00E-09 g.chr12:121789949C>T c.195G>A c.(193-195)ctG>ctA p.L65L SARC 12 121747544 121747544 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 g.chr12:121747544C>T c.2016G>A c.(2014-2016)gtG>gtA p.V672V SARC 12 121766222 121766222 + Missense_Mutation SNP C C T TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 g.chr12:121766222C>T c.1201G>A c.(1201-1203)Gcc>Acc p.A401T SKCM 12 121747651 121747651 + Missense_Mutation SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr12:121747651G>A c.1909C>T c.(1909-1911)Cca>Tca p.P637S SKCM 12 121756141 121756141 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr12:121756141G>A c.1832C>T c.(1831-1833)tCc>tTc p.S611F SKCM 12 121758211 121758211 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:121758211G>A c.1492C>T c.(1492-1494)Ccg>Tcg p.P498S SKCM 12 121779840 121779840 + Missense_Mutation SNP G G A TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr12:121779840G>A c.623C>T c.(622-624)tCc>tTc p.S208F SKCM 12 121784743 121784743 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr12:121784743G>A c.353C>T c.(352-354)tCt>tTt p.S118F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 121779853 121779853 single base substitution T C downstream_gene_variant BLCA-CN 12 121779853 121779853 single base substitution T C exon_variant BLCA-CN 12 121779853 121779853 single base substitution T C missense_variant S105G 313A>G BLCA-CN 12 121779853 121779853 single base substitution T C missense_variant S204G 610A>G BLCA-CN 12 121779853 121779853 single base substitution T C missense_variant S83G 247A>G BLCA-CN 12 121779853 121779853 single base substitution T C upstream_gene_variant BLCA-US 12 121757561 121757561 single base substitution G A exon_variant BLCA-US 12 121757561 121757561 single base substitution G A missense_variant H192Y 574C>T BLCA-US 12 121757561 121757561 single base substitution G A missense_variant H414Y 1240C>T BLCA-US 12 121757561 121757561 single base substitution G A missense_variant H513Y 1537C>T BLCA-US 12 121757561 121757561 single base substitution G A missense_variant H526Y 1576C>T BRCA-EU 12 121741647 121741647 single base substitution C G downstream_gene_variant BRCA-EU 12 121742521 121742521 single base substitution G T downstream_gene_variant BRCA-EU 12 121743112 121743112 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 121743128 121743130 deletion of <=200bp CCT - downstream_gene_variant BRCA-EU 12 121743237 121743237 single base substitution C G downstream_gene_variant BRCA-EU 12 121743456 121743456 single base substitution C G downstream_gene_variant BRCA-EU 12 121744125 121744125 single base substitution G A downstream_gene_variant BRCA-EU 12 121745852 121745852 single base substitution G T downstream_gene_variant BRCA-EU 12 121746585 121746585 single base substitution A C intron_variant BRCA-EU 12 121747401 121747401 single base substitution C T intron_variant BRCA-EU 12 121749779 121749779 insertion of <=200bp - AT intron_variant BRCA-EU 12 121749779 121749779 insertion of <=200bp - AT upstream_gene_variant BRCA-EU 12 121749888 121749888 single base substitution C G intron_variant BRCA-EU 12 121749888 121749888 single base substitution C G upstream_gene_variant BRCA-EU 12 121750158 121750158 single base substitution G C intron_variant BRCA-EU 12 121750158 121750158 single base substitution G C upstream_gene_variant BRCA-EU 12 121752891 121752891 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 121752891 121752891 deletion of <=200bp T - intron_variant BRCA-EU 12 121752891 121752891 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 121753230 121753230 single base substitution G C downstream_gene_variant BRCA-EU 12 121753230 121753230 single base substitution G C intron_variant BRCA-EU 12 121754124 121754124 single base substitution T C downstream_gene_variant BRCA-EU 12 121754124 121754124 single base substitution T C intron_variant BRCA-EU 12 121754886 121754886 single base substitution G A downstream_gene_variant BRCA-EU 12 121754886 121754886 single base substitution G A intron_variant BRCA-EU 12 121755465 121755465 single base substitution C T downstream_gene_variant BRCA-EU 12 121755465 121755465 single base substitution C T intron_variant BRCA-EU 12 121756221 121756221 single base substitution T C downstream_gene_variant BRCA-EU 12 121756221 121756221 single base substitution T C exon_variant BRCA-EU 12 121756221 121756221 single base substitution T C intron_variant BRCA-EU 12 121756221 121756221 single base substitution T C synonymous_variant L250L 750A>G BRCA-EU 12 121756221 121756221 single base substitution T C synonymous_variant L472L 1416A>G BRCA-EU 12 121756221 121756221 single base substitution T C synonymous_variant L571L 1713A>G BRCA-EU 12 121756221 121756221 single base substitution T C synonymous_variant L584L 1752A>G BRCA-EU 12 121757630 121757630 deletion of <=200bp A - intron_variant BRCA-EU 12 121758776 121758776 single base substitution G A exon_variant BRCA-EU 12 121758776 121758776 single base substitution G A intron_variant BRCA-EU 12 121758884 121758884 single base substitution C G exon_variant BRCA-EU 12 121758884 121758884 single base substitution C G intron_variant BRCA-EU 12 121759064 121759064 single base substitution T A intron_variant BRCA-EU 12 121759064 121759064 single base substitution T A upstream_gene_variant BRCA-EU 12 121759466 121759466 single base substitution G A downstream_gene_variant BRCA-EU 12 121759466 121759466 single base substitution G A intron_variant BRCA-EU 12 121759466 121759466 single base substitution G A upstream_gene_variant BRCA-EU 12 121760762 121760762 single base substitution A T downstream_gene_variant BRCA-EU 12 121760762 121760762 single base substitution A T intron_variant BRCA-EU 12 121760762 121760762 single base substitution A T upstream_gene_variant BRCA-EU 12 121761335 121761335 single base substitution A G downstream_gene_variant BRCA-EU 12 121761335 121761335 single base substitution A G intron_variant BRCA-EU 12 121761335 121761335 single base substitution A G upstream_gene_variant BRCA-EU 12 121762107 121762107 single base substitution T C downstream_gene_variant BRCA-EU 12 121762107 121762107 single base substitution T C intron_variant BRCA-EU 12 121762107 121762107 single base substitution T C upstream_gene_variant BRCA-EU 12 121762308 121762308 single base substitution G T downstream_gene_variant BRCA-EU 12 121762308 121762308 single base substitution G T intron_variant BRCA-EU 12 121762308 121762308 single base substitution G T upstream_gene_variant BRCA-EU 12 121762349 121762349 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 121762349 121762349 deletion of <=200bp A - intron_variant BRCA-EU 12 121762349 121762349 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 121762875 121762875 single base substitution G C downstream_gene_variant BRCA-EU 12 121762875 121762875 single base substitution G C intron_variant BRCA-EU 12 121762875 121762875 single base substitution G C upstream_gene_variant BRCA-EU 12 121763217 121763217 single base substitution G A downstream_gene_variant BRCA-EU 12 121763217 121763217 single base substitution G A intron_variant BRCA-EU 12 121763217 121763217 single base substitution G A upstream_gene_variant BRCA-EU 12 121765122 121765122 single base substitution G A downstream_gene_variant BRCA-EU 12 121765122 121765122 single base substitution G A exon_variant BRCA-EU 12 121765122 121765122 single base substitution G A intron_variant BRCA-EU 12 121765427 121765427 single base substitution C T downstream_gene_variant BRCA-EU 12 121765427 121765427 single base substitution C T exon_variant BRCA-EU 12 121765427 121765427 single base substitution C T intron_variant BRCA-EU 12 121766003 121766003 single base substitution G C downstream_gene_variant BRCA-EU 12 121766003 121766003 single base substitution G C exon_variant BRCA-EU 12 121766003 121766003 single base substitution G C intron_variant BRCA-EU 12 121766471 121766471 single base substitution C G downstream_gene_variant BRCA-EU 12 121766471 121766471 single base substitution C G intron_variant BRCA-EU 12 121766719 121766719 single base substitution A G downstream_gene_variant BRCA-EU 12 121766719 121766719 single base substitution A G intron_variant BRCA-EU 12 121766719 121766719 single base substitution A G upstream_gene_variant BRCA-EU 12 121766788 121766788 single base substitution C T downstream_gene_variant BRCA-EU 12 121766788 121766788 single base substitution C T intron_variant BRCA-EU 12 121766788 121766788 single base substitution C T upstream_gene_variant BRCA-EU 12 121767100 121767100 single base substitution G A downstream_gene_variant BRCA-EU 12 121767100 121767100 single base substitution G A intron_variant BRCA-EU 12 121767100 121767100 single base substitution G A upstream_gene_variant BRCA-EU 12 121768620 121768620 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 121768620 121768620 single base substitution A T downstream_gene_variant BRCA-EU 12 121768620 121768620 single base substitution A T exon_variant BRCA-EU 12 121768620 121768620 single base substitution A T intron_variant BRCA-EU 12 121768620 121768620 single base substitution A T upstream_gene_variant BRCA-EU 12 121768847 121768847 single base substitution C G 5_prime_UTR_variant BRCA-EU 12 121768847 121768847 single base substitution C G downstream_gene_variant BRCA-EU 12 121768847 121768847 single base substitution C G exon_variant BRCA-EU 12 121768847 121768847 single base substitution C G intron_variant BRCA-EU 12 121768847 121768847 single base substitution C G upstream_gene_variant BRCA-EU 12 121769440 121769440 single base substitution G C downstream_gene_variant BRCA-EU 12 121769440 121769440 single base substitution G C exon_variant BRCA-EU 12 121769440 121769440 single base substitution G C intron_variant BRCA-EU 12 121769440 121769440 single base substitution G C upstream_gene_variant BRCA-EU 12 121773153 121773153 single base substitution G C downstream_gene_variant BRCA-EU 12 121773153 121773153 single base substitution G C intron_variant BRCA-EU 12 121773153 121773153 single base substitution G C upstream_gene_variant BRCA-EU 12 121774094 121774094 single base substitution C G intron_variant BRCA-EU 12 121774094 121774094 single base substitution C G upstream_gene_variant BRCA-EU 12 121774158 121774158 single base substitution G T intron_variant BRCA-EU 12 121774158 121774158 single base substitution G T upstream_gene_variant BRCA-EU 12 121774377 121774377 single base substitution G C intron_variant BRCA-EU 12 121774377 121774377 single base substitution G C upstream_gene_variant BRCA-EU 12 121775953 121775953 single base substitution C T intron_variant BRCA-EU 12 121775953 121775953 single base substitution C T upstream_gene_variant BRCA-EU 12 121776047 121776047 single base substitution A T intron_variant BRCA-EU 12 121776047 121776047 single base substitution A T upstream_gene_variant BRCA-EU 12 121776319 121776319 single base substitution G T intron_variant BRCA-EU 12 121776319 121776319 single base substitution G T upstream_gene_variant BRCA-EU 12 121776506 121776506 single base substitution C G intron_variant BRCA-EU 12 121776506 121776506 single base substitution C G upstream_gene_variant BRCA-EU 12 121778311 121778311 single base substitution G C intron_variant BRCA-EU 12 121778311 121778311 single base substitution G C upstream_gene_variant BRCA-EU 12 121779904 121779904 single base substitution G C downstream_gene_variant BRCA-EU 12 121779904 121779904 single base substitution G C intron_variant BRCA-EU 12 121779904 121779904 single base substitution G C upstream_gene_variant BRCA-EU 12 121781351 121781351 single base substitution A T downstream_gene_variant BRCA-EU 12 121781351 121781351 single base substitution A T intron_variant BRCA-EU 12 121781351 121781351 single base substitution A T upstream_gene_variant BRCA-EU 12 121786244 121786244 single base substitution G C intron_variant BRCA-EU 12 121786244 121786244 single base substitution G C upstream_gene_variant BRCA-EU 12 121787185 121787185 single base substitution G A intron_variant BRCA-EU 12 121787185 121787185 single base substitution G A upstream_gene_variant BRCA-EU 12 121787900 121787900 single base substitution C A intron_variant BRCA-EU 12 121787900 121787900 single base substitution C A upstream_gene_variant BRCA-EU 12 121788637 121788637 single base substitution G A intron_variant BRCA-EU 12 121788637 121788637 single base substitution G A upstream_gene_variant BRCA-EU 12 121788854 121788854 single base substitution G A intron_variant BRCA-EU 12 121788854 121788854 single base substitution G A upstream_gene_variant BRCA-EU 12 121788947 121788947 single base substitution G C intron_variant BRCA-EU 12 121788947 121788947 single base substitution G C synonymous_variant L89L 267C>G BRCA-EU 12 121788947 121788947 single base substitution G C upstream_gene_variant BRCA-EU 12 121790479 121790479 single base substitution G T intron_variant BRCA-EU 12 121790479 121790479 single base substitution G T upstream_gene_variant BRCA-EU 12 121790645 121790645 single base substitution G T intron_variant BRCA-EU 12 121790645 121790645 single base substitution G T upstream_gene_variant BRCA-EU 12 121790987 121790987 single base substitution C T intron_variant BRCA-EU 12 121790987 121790987 single base substitution C T upstream_gene_variant BRCA-EU 12 121791754 121791754 single base substitution T C intron_variant BRCA-EU 12 121791754 121791754 single base substitution T C upstream_gene_variant BRCA-EU 12 121792110 121792110 single base substitution A T intron_variant BRCA-EU 12 121792110 121792110 single base substitution A T upstream_gene_variant BRCA-EU 12 121792835 121792835 single base substitution G A intron_variant BRCA-EU 12 121792835 121792835 single base substitution G A upstream_gene_variant BRCA-EU 12 121792848 121792848 single base substitution G T intron_variant BRCA-EU 12 121792848 121792848 single base substitution G T upstream_gene_variant BRCA-EU 12 121795039 121795039 deletion of <=200bp G - intron_variant BRCA-EU 12 121795039 121795039 deletion of <=200bp G - upstream_gene_variant BRCA-EU 12 121795331 121795331 single base substitution A G intron_variant BRCA-EU 12 121795347 121795347 single base substitution G C intron_variant BRCA-EU 12 121796681 121796681 single base substitution G T intron_variant BRCA-EU 12 121796930 121796930 insertion of <=200bp - A intron_variant BRCA-EU 12 121796934 121796934 single base substitution A C intron_variant BRCA-EU 12 121797043 121797043 single base substitution A T intron_variant BRCA-EU 12 121797239 121797239 insertion of <=200bp - A intron_variant BRCA-EU 12 121797777 121797777 single base substitution A T intron_variant BRCA-EU 12 121799481 121799481 single base substitution C T intron_variant BRCA-EU 12 121800432 121800432 single base substitution C T intron_variant BRCA-EU 12 121801313 121801313 single base substitution A G intron_variant BRCA-EU 12 121801967 121801967 insertion of <=200bp - C intron_variant BRCA-EU 12 121802638 121802638 single base substitution C G intron_variant BRCA-EU 12 121804241 121804241 single base substitution T C intron_variant BRCA-EU 12 121804628 121804643 deletion of <=200bp TGTGGTGGCTCACGCC - intron_variant BRCA-EU 12 121805946 121805946 single base substitution G C intron_variant BRCA-EU 12 121806897 121806897 deletion of <=200bp A - intron_variant BRCA-EU 12 121807117 121807117 single base substitution G C intron_variant BRCA-EU 12 121809291 121809291 single base substitution C T intron_variant BRCA-EU 12 121809955 121809955 single base substitution G A intron_variant BRCA-EU 12 121809970 121809970 single base substitution C T intron_variant BRCA-EU 12 121810260 121810260 single base substitution G A intron_variant BRCA-EU 12 121811663 121811663 single base substitution A G intron_variant BRCA-EU 12 121811711 121811711 single base substitution C G intron_variant BRCA-EU 12 121813014 121813014 single base substitution C T intron_variant BRCA-EU 12 121813375 121813375 single base substitution G C intron_variant BRCA-EU 12 121813815 121813815 single base substitution T G intron_variant BRCA-EU 12 121814418 121814418 single base substitution C T intron_variant BRCA-EU 12 121814707 121814707 single base substitution G T intron_variant BRCA-EU 12 121814852 121814852 single base substitution C T intron_variant BRCA-EU 12 121817780 121817780 single base substitution G A intron_variant BRCA-EU 12 121818420 121818420 single base substitution A G intron_variant BRCA-EU 12 121818421 121818421 single base substitution A T intron_variant BRCA-EU 12 121818479 121818479 single base substitution C G intron_variant BRCA-EU 12 121819448 121819449 deletion of <=200bp AT - intron_variant BRCA-EU 12 121819735 121819735 single base substitution C T intron_variant BRCA-EU 12 121820427 121820427 single base substitution G A intron_variant BRCA-EU 12 121821446 121821446 single base substitution G C intron_variant BRCA-EU 12 121821776 121821776 single base substitution C T intron_variant BRCA-EU 12 121822725 121822725 single base substitution T A intron_variant BRCA-EU 12 121822822 121822822 single base substitution T C intron_variant BRCA-EU 12 121823171 121823171 single base substitution G C intron_variant BRCA-EU 12 121823201 121823201 single base substitution G A intron_variant BRCA-EU 12 121824229 121824229 single base substitution G A intron_variant BRCA-EU 12 121824476 121824476 single base substitution G C intron_variant BRCA-EU 12 121824759 121824759 single base substitution G T intron_variant BRCA-EU 12 121826705 121826705 single base substitution C G intron_variant BRCA-EU 12 121826724 121826724 single base substitution C G intron_variant BRCA-EU 12 121827639 121827639 single base substitution T C intron_variant BRCA-EU 12 121828023 121828023 single base substitution C T intron_variant BRCA-EU 12 121828252 121828252 single base substitution G A intron_variant BRCA-EU 12 121828412 121828412 single base substitution T C intron_variant BRCA-EU 12 121830992 121830992 single base substitution C T intron_variant BRCA-EU 12 121831506 121831506 single base substitution C G intron_variant BRCA-EU 12 121831552 121831552 deletion of <=200bp T - intron_variant BRCA-EU 12 121833154 121833154 single base substitution G A intron_variant BRCA-EU 12 121836119 121836119 single base substitution G A intron_variant BRCA-EU 12 121836187 121836188 deletion of <=200bp AT - intron_variant BRCA-EU 12 121836588 121836588 deletion of <=200bp A - intron_variant BRCA-EU 12 121837518 121837518 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 121837918 121837918 single base substitution G T upstream_gene_variant BRCA-EU 12 121838791 121838791 single base substitution T G upstream_gene_variant BRCA-EU 12 121839983 121839983 single base substitution A G upstream_gene_variant BRCA-EU 12 121840808 121840808 single base substitution G C upstream_gene_variant BRCA-FR 12 121743456 121743456 single base substitution C G downstream_gene_variant BRCA-FR 12 121744125 121744125 single base substitution G A downstream_gene_variant BRCA-FR 12 121749888 121749888 single base substitution C G intron_variant BRCA-FR 12 121749888 121749888 single base substitution C G upstream_gene_variant BRCA-FR 12 121755282 121755282 single base substitution C G downstream_gene_variant BRCA-FR 12 121755282 121755282 single base substitution C G intron_variant BRCA-FR 12 121768847 121768847 single base substitution C G 5_prime_UTR_variant BRCA-FR 12 121768847 121768847 single base substitution C G downstream_gene_variant BRCA-FR 12 121768847 121768847 single base substitution C G exon_variant BRCA-FR 12 121768847 121768847 single base substitution C G intron_variant BRCA-FR 12 121768847 121768847 single base substitution C G upstream_gene_variant BRCA-FR 12 121769440 121769440 single base substitution G C downstream_gene_variant BRCA-FR 12 121769440 121769440 single base substitution G C exon_variant BRCA-FR 12 121769440 121769440 single base substitution G C intron_variant BRCA-FR 12 121769440 121769440 single base substitution G C upstream_gene_variant BRCA-FR 12 121773153 121773153 single base substitution G C downstream_gene_variant BRCA-FR 12 121773153 121773153 single base substitution G C intron_variant BRCA-FR 12 121773153 121773153 single base substitution G C upstream_gene_variant BRCA-FR 12 121774158 121774158 single base substitution G T intron_variant BRCA-FR 12 121774158 121774158 single base substitution G T upstream_gene_variant BRCA-FR 12 121774377 121774377 single base substitution G C intron_variant BRCA-FR 12 121774377 121774377 single base substitution G C upstream_gene_variant BRCA-FR 12 121793286 121793286 single base substitution G A intron_variant BRCA-FR 12 121793286 121793286 single base substitution G A upstream_gene_variant BRCA-FR 12 121809955 121809955 single base substitution G A intron_variant BRCA-FR 12 121817266 121817266 single base substitution T A intron_variant BRCA-FR 12 121824476 121824476 single base substitution G C intron_variant BRCA-FR 12 121828252 121828252 single base substitution G A intron_variant BRCA-FR 12 121830138 121830138 single base substitution A C intron_variant BRCA-FR 12 121836119 121836119 single base substitution G A intron_variant BRCA-FR 12 121837518 121837518 single base substitution C T 5_prime_UTR_variant BRCA-FR 12 121837918 121837918 single base substitution G T upstream_gene_variant BRCA-UK 12 121756173 121756173 single base substitution C T downstream_gene_variant BRCA-UK 12 121756173 121756173 single base substitution C T exon_variant BRCA-UK 12 121756173 121756173 single base substitution C T intron_variant BRCA-UK 12 121756173 121756173 single base substitution C T synonymous_variant A266A 798G>A BRCA-UK 12 121756173 121756173 single base substitution C T synonymous_variant A488A 1464G>A BRCA-UK 12 121756173 121756173 single base substitution C T synonymous_variant A587A 1761G>A BRCA-UK 12 121756173 121756173 single base substitution C T synonymous_variant A600A 1800G>A BRCA-UK 12 121799404 121799404 single base substitution G A intron_variant BRCA-UK 12 121828412 121828412 single base substitution T C intron_variant BRCA-UK 12 121829400 121829400 single base substitution C G intron_variant BRCA-US 12 121746192 121746192 single base substitution T G 3_prime_UTR_variant BRCA-US 12 121746192 121746192 single base substitution T G downstream_gene_variant BRCA-US 12 121746192 121746192 single base substitution T G exon_variant BRCA-US 12 121746349 121746349 single base substitution C T 3_prime_UTR_variant BRCA-US 12 121746349 121746349 single base substitution C T exon_variant BRCA-US 12 121746349 121746349 single base substitution C T synonymous_variant A400A 1200G>A BRCA-US 12 121746349 121746349 single base substitution C T synonymous_variant A622A 1866G>A BRCA-US 12 121746349 121746349 single base substitution C T synonymous_variant A721A 2163G>A BRCA-US 12 121746349 121746349 single base substitution C T synonymous_variant A734A 2202G>A BRCA-US 12 121746366 121746366 single base substitution C A 3_prime_UTR_variant BRCA-US 12 121746366 121746366 single base substitution C A exon_variant BRCA-US 12 121746366 121746366 single base substitution C A stop_gained E395* 1183G>T BRCA-US 12 121746366 121746366 single base substitution C A stop_gained E617* 1849G>T BRCA-US 12 121746366 121746366 single base substitution C A stop_gained E716* 2146G>T BRCA-US 12 121746366 121746366 single base substitution C A stop_gained E729* 2185G>T BRCA-US 12 121747576 121747576 single base substitution G A 3_prime_UTR_variant BRCA-US 12 121747576 121747576 single base substitution G A exon_variant BRCA-US 12 121747576 121747576 single base substitution G A missense_variant R328C 982C>T BRCA-US 12 121747576 121747576 single base substitution G A missense_variant R550C 1648C>T BRCA-US 12 121747576 121747576 single base substitution G A missense_variant R649C 1945C>T BRCA-US 12 121747576 121747576 single base substitution G A missense_variant R662C 1984C>T BRCA-US 12 121757513 121757513 single base substitution C G exon_variant BRCA-US 12 121757513 121757513 single base substitution C G missense_variant E208Q 622G>C BRCA-US 12 121757513 121757513 single base substitution C G missense_variant E430Q 1288G>C BRCA-US 12 121757513 121757513 single base substitution C G missense_variant E529Q 1585G>C BRCA-US 12 121757513 121757513 single base substitution C G missense_variant E542Q 1624G>C BRCA-US 12 121775176 121775176 single base substitution T A exon_variant BRCA-US 12 121775176 121775176 single base substitution T A missense_variant D105V 314A>T BRCA-US 12 121775176 121775176 single base substitution T A missense_variant D127V 380A>T BRCA-US 12 121775176 121775176 single base substitution T A missense_variant D226V 677A>T BRCA-US 12 121775176 121775176 single base substitution T A upstream_gene_variant BRCA-US 12 121785621 121785621 single base substitution T C 5_prime_UTR_variant BRCA-US 12 121785621 121785621 single base substitution T C exon_variant BRCA-US 12 121785621 121785621 single base substitution T C intron_variant BRCA-US 12 121785621 121785621 single base substitution T C missense_variant N139D 415A>G BRCA-US 12 121785621 121785621 single base substitution T C missense_variant N91D 271A>G BRCA-US 12 121785621 121785621 single base substitution T C upstream_gene_variant BTCA-JP 12 121783939 121783939 single base substitution G C downstream_gene_variant BTCA-JP 12 121783939 121783939 single base substitution G C exon_variant BTCA-JP 12 121783939 121783939 single base substitution G C intron_variant BTCA-JP 12 121783939 121783939 single base substitution G C upstream_gene_variant CESC-US 12 121757584 121757584 single base substitution C G exon_variant CESC-US 12 121757584 121757584 single base substitution C G missense_variant R184T 551G>C CESC-US 12 121757584 121757584 single base substitution C G missense_variant R406T 1217G>C CESC-US 12 121757584 121757584 single base substitution C G missense_variant R505T 1514G>C CESC-US 12 121757584 121757584 single base substitution C G missense_variant R518T 1553G>C CLLE-ES 12 121769557 121769557 single base substitution T A downstream_gene_variant CLLE-ES 12 121769557 121769557 single base substitution T A exon_variant CLLE-ES 12 121769557 121769557 single base substitution T A intron_variant CLLE-ES 12 121769557 121769557 single base substitution T A upstream_gene_variant CLLE-ES 12 121789377 121789377 single base substitution C G intron_variant CLLE-ES 12 121789377 121789377 single base substitution C G upstream_gene_variant CLLE-ES 12 121793102 121793102 single base substitution G A intron_variant CLLE-ES 12 121793102 121793102 single base substitution G A upstream_gene_variant CLLE-ES 12 121810019 121810019 single base substitution C T intron_variant CLLE-ES 12 121823508 121823508 single base substitution T A intron_variant CLLE-ES 12 121824074 121824074 single base substitution T C intron_variant COAD-US 12 121746350 121746350 single base substitution G A 3_prime_UTR_variant COAD-US 12 121746350 121746350 single base substitution G A exon_variant COAD-US 12 121746350 121746350 single base substitution G A missense_variant A400V 1199C>T COAD-US 12 121746350 121746350 single base substitution G A missense_variant A622V 1865C>T COAD-US 12 121746350 121746350 single base substitution G A missense_variant A721V 2162C>T COAD-US 12 121746350 121746350 single base substitution G A missense_variant A734V 2201C>T COAD-US 12 121764935 121764935 single base substitution G A downstream_gene_variant COAD-US 12 121764935 121764935 single base substitution G A exon_variant COAD-US 12 121764935 121764935 single base substitution G A synonymous_variant V134V 402C>T COAD-US 12 121764935 121764935 single base substitution G A synonymous_variant V356V 1068C>T COAD-US 12 121764935 121764935 single base substitution G A synonymous_variant V455V 1365C>T COAD-US 12 121764935 121764935 single base substitution G A synonymous_variant V468V 1404C>T COCA-CN 12 121756352 121756352 single base substitution T G exon_variant COCA-CN 12 121756352 121756352 single base substitution T G missense_variant K232T 695A>C COCA-CN 12 121756352 121756352 single base substitution T G missense_variant K454T 1361A>C COCA-CN 12 121756352 121756352 single base substitution T G missense_variant K553T 1658A>C COCA-CN 12 121756352 121756352 single base substitution T G missense_variant K566T 1697A>C COCA-CN 12 121764877 121764877 single base substitution G A downstream_gene_variant COCA-CN 12 121764877 121764877 single base substitution G A intron_variant COCA-CN 12 121764934 121764934 single base substitution C T downstream_gene_variant COCA-CN 12 121764934 121764934 single base substitution C T exon_variant COCA-CN 12 121764934 121764934 single base substitution C T missense_variant A135T 403G>A COCA-CN 12 121764934 121764934 single base substitution C T missense_variant A357T 1069G>A COCA-CN 12 121764934 121764934 single base substitution C T missense_variant A456T 1366G>A COCA-CN 12 121764934 121764934 single base substitution C T missense_variant A469T 1405G>A COCA-CN 12 121764972 121764972 single base substitution G A downstream_gene_variant COCA-CN 12 121764972 121764972 single base substitution G A exon_variant COCA-CN 12 121764972 121764972 single base substitution G A missense_variant A122V 365C>T COCA-CN 12 121764972 121764972 single base substitution G A missense_variant A344V 1031C>T COCA-CN 12 121764972 121764972 single base substitution G A missense_variant A443V 1328C>T COCA-CN 12 121764972 121764972 single base substitution G A missense_variant A456V 1367C>T COCA-CN 12 121773477 121773477 single base substitution G C exon_variant COCA-CN 12 121773477 121773477 single base substitution G C intron_variant COCA-CN 12 121773477 121773477 single base substitution G C stop_gained S149* 446C>G COCA-CN 12 121773477 121773477 single base substitution G C stop_gained S171* 512C>G COCA-CN 12 121773477 121773477 single base substitution G C stop_gained S270* 809C>G COCA-CN 12 121773477 121773477 single base substitution G C upstream_gene_variant COCA-CN 12 121784860 121784860 single base substitution C A exon_variant COCA-CN 12 121784860 121784860 single base substitution C A intron_variant COCA-CN 12 121784860 121784860 single base substitution C A upstream_gene_variant COCA-CN 12 121785771 121785771 single base substitution C A intron_variant COCA-CN 12 121785771 121785771 single base substitution C A upstream_gene_variant COCA-CN 12 121785795 121785795 single base substitution C A intron_variant COCA-CN 12 121785795 121785795 single base substitution C A upstream_gene_variant COCA-CN 12 121790250 121790250 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 12 121790250 121790250 single base substitution G A intron_variant COCA-CN 12 121790250 121790250 single base substitution G A upstream_gene_variant COCA-CN 12 121812302 121812302 single base substitution C T intron_variant COCA-CN 12 121816979 121816979 single base substitution T C intron_variant COCA-CN 12 121832001 121832001 single base substitution C T intron_variant COCA-CN 12 121842501 121842501 single base substitution A G upstream_gene_variant EOPC-DE 12 121793219 121793219 single base substitution G A intron_variant EOPC-DE 12 121793219 121793219 single base substitution G A upstream_gene_variant EOPC-DE 12 121811950 121811950 single base substitution C G intron_variant EOPC-DE 12 121823519 121823519 single base substitution T C intron_variant ESAD-UK 12 121742500 121742500 single base substitution C G downstream_gene_variant ESAD-UK 12 121748959 121748959 single base substitution A C intron_variant ESAD-UK 12 121748959 121748959 single base substitution A C upstream_gene_variant ESAD-UK 12 121749856 121749856 single base substitution G T intron_variant ESAD-UK 12 121749856 121749856 single base substitution G T upstream_gene_variant ESAD-UK 12 121750044 121750044 single base substitution T A intron_variant ESAD-UK 12 121750044 121750044 single base substitution T A upstream_gene_variant ESAD-UK 12 121752620 121752620 single base substitution G A downstream_gene_variant ESAD-UK 12 121752620 121752620 single base substitution G A intron_variant ESAD-UK 12 121752620 121752620 single base substitution G A upstream_gene_variant ESAD-UK 12 121756406 121756406 single base substitution G A exon_variant ESAD-UK 12 121756406 121756406 single base substitution G A missense_variant A214V 641C>T ESAD-UK 12 121756406 121756406 single base substitution G A missense_variant A436V 1307C>T ESAD-UK 12 121756406 121756406 single base substitution G A missense_variant A535V 1604C>T ESAD-UK 12 121756406 121756406 single base substitution G A missense_variant A548V 1643C>T ESAD-UK 12 121757637 121757637 insertion of <=200bp - AAAAC intron_variant ESAD-UK 12 121758403 121758403 single base substitution C G exon_variant ESAD-UK 12 121758403 121758403 single base substitution C G intron_variant ESAD-UK 12 121758804 121758804 single base substitution G A exon_variant ESAD-UK 12 121758804 121758804 single base substitution G A intron_variant ESAD-UK 12 121759886 121759886 single base substitution C A downstream_gene_variant ESAD-UK 12 121759886 121759886 single base substitution C A intron_variant ESAD-UK 12 121759886 121759886 single base substitution C A upstream_gene_variant ESAD-UK 12 121760582 121760582 single base substitution C G downstream_gene_variant ESAD-UK 12 121760582 121760582 single base substitution C G intron_variant ESAD-UK 12 121760582 121760582 single base substitution C G upstream_gene_variant ESAD-UK 12 121762420 121762420 single base substitution C T downstream_gene_variant ESAD-UK 12 121762420 121762420 single base substitution C T intron_variant ESAD-UK 12 121762420 121762420 single base substitution C T upstream_gene_variant ESAD-UK 12 121764022 121764022 single base substitution G T downstream_gene_variant ESAD-UK 12 121764022 121764022 single base substitution G T intron_variant ESAD-UK 12 121765305 121765305 single base substitution T G downstream_gene_variant ESAD-UK 12 121765305 121765305 single base substitution T G exon_variant ESAD-UK 12 121765305 121765305 single base substitution T G intron_variant ESAD-UK 12 121765591 121765591 single base substitution C G downstream_gene_variant ESAD-UK 12 121765591 121765591 single base substitution C G exon_variant ESAD-UK 12 121765591 121765591 single base substitution C G intron_variant ESAD-UK 12 121767335 121767335 single base substitution G A downstream_gene_variant ESAD-UK 12 121767335 121767335 single base substitution G A intron_variant ESAD-UK 12 121767335 121767335 single base substitution G A upstream_gene_variant ESAD-UK 12 121771797 121771797 single base substitution G C downstream_gene_variant ESAD-UK 12 121771797 121771797 single base substitution G C exon_variant ESAD-UK 12 121771797 121771797 single base substitution G C intron_variant ESAD-UK 12 121771797 121771797 single base substitution G C upstream_gene_variant ESAD-UK 12 121774942 121774942 single base substitution A C intron_variant ESAD-UK 12 121774942 121774942 single base substitution A C upstream_gene_variant ESAD-UK 12 121775620 121775620 single base substitution A C intron_variant ESAD-UK 12 121775620 121775620 single base substitution A C upstream_gene_variant ESAD-UK 12 121777313 121777313 single base substitution G T intron_variant ESAD-UK 12 121777313 121777313 single base substitution G T upstream_gene_variant ESAD-UK 12 121778130 121778130 single base substitution A C intron_variant ESAD-UK 12 121778130 121778130 single base substitution A C upstream_gene_variant ESAD-UK 12 121778459 121778459 single base substitution G A intron_variant ESAD-UK 12 121778459 121778459 single base substitution G A upstream_gene_variant ESAD-UK 12 121780101 121780101 single base substitution T C downstream_gene_variant ESAD-UK 12 121780101 121780101 single base substitution T C intron_variant ESAD-UK 12 121780101 121780101 single base substitution T C upstream_gene_variant ESAD-UK 12 121780344 121780344 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 121780344 121780344 deletion of <=200bp A - intron_variant ESAD-UK 12 121780344 121780344 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 121782934 121782934 single base substitution C A downstream_gene_variant ESAD-UK 12 121782934 121782934 single base substitution C A intron_variant ESAD-UK 12 121782934 121782934 single base substitution C A upstream_gene_variant ESAD-UK 12 121786397 121786397 single base substitution G C intron_variant ESAD-UK 12 121786397 121786397 single base substitution G C upstream_gene_variant ESAD-UK 12 121787546 121787546 single base substitution G A intron_variant ESAD-UK 12 121787546 121787546 single base substitution G A upstream_gene_variant ESAD-UK 12 121793139 121793139 single base substitution C T intron_variant ESAD-UK 12 121793139 121793139 single base substitution C T upstream_gene_variant ESAD-UK 12 121794577 121794577 single base substitution C T intron_variant ESAD-UK 12 121794577 121794577 single base substitution C T upstream_gene_variant ESAD-UK 12 121794918 121794918 single base substitution C T intron_variant ESAD-UK 12 121794918 121794918 single base substitution C T upstream_gene_variant ESAD-UK 12 121795715 121795715 single base substitution A G intron_variant ESAD-UK 12 121796581 121796581 single base substitution C T intron_variant ESAD-UK 12 121797456 121797456 single base substitution G A intron_variant ESAD-UK 12 121798356 121798356 single base substitution G T intron_variant ESAD-UK 12 121798563 121798563 single base substitution T A intron_variant ESAD-UK 12 121799051 121799051 single base substitution C T intron_variant ESAD-UK 12 121799632 121799632 single base substitution G T intron_variant ESAD-UK 12 121802097 121802097 single base substitution A T intron_variant ESAD-UK 12 121803425 121803425 single base substitution A C intron_variant ESAD-UK 12 121804206 121804206 single base substitution C T intron_variant ESAD-UK 12 121804277 121804277 single base substitution C T intron_variant ESAD-UK 12 121804678 121804678 single base substitution G A intron_variant ESAD-UK 12 121807125 121807125 single base substitution C A intron_variant ESAD-UK 12 121807815 121807815 single base substitution G T intron_variant ESAD-UK 12 121809068 121809068 single base substitution G A intron_variant ESAD-UK 12 121809537 121809537 single base substitution C A intron_variant ESAD-UK 12 121809823 121809823 single base substitution C T intron_variant ESAD-UK 12 121810774 121810774 insertion of <=200bp - A intron_variant ESAD-UK 12 121812283 121812283 single base substitution G A intron_variant ESAD-UK 12 121815123 121815123 single base substitution G T intron_variant ESAD-UK 12 121816099 121816099 single base substitution C G intron_variant ESAD-UK 12 121818132 121818132 single base substitution G A intron_variant ESAD-UK 12 121818534 121818534 single base substitution C T intron_variant ESAD-UK 12 121819010 121819010 single base substitution A T intron_variant ESAD-UK 12 121819449 121819449 single base substitution T A intron_variant ESAD-UK 12 121819620 121819620 single base substitution T G intron_variant ESAD-UK 12 121821526 121821526 single base substitution G C intron_variant ESAD-UK 12 121822468 121822468 single base substitution G A intron_variant ESAD-UK 12 121822781 121822781 single base substitution T C intron_variant ESAD-UK 12 121823181 121823181 single base substitution C G intron_variant ESAD-UK 12 121824442 121824442 single base substitution G A intron_variant ESAD-UK 12 121825974 121825974 insertion of <=200bp - TG intron_variant ESAD-UK 12 121829995 121829995 single base substitution A G intron_variant ESAD-UK 12 121830149 121830149 single base substitution A C intron_variant ESAD-UK 12 121830853 121830853 single base substitution C T intron_variant ESAD-UK 12 121831994 121831994 single base substitution A G intron_variant ESAD-UK 12 121836262 121836262 single base substitution G A intron_variant ESAD-UK 12 121837817 121837817 single base substitution C T upstream_gene_variant KIRC-US 12 121758187 121758187 single base substitution C A splice_donor_variant KIRP-US 12 121766167 121766167 single base substitution T C downstream_gene_variant KIRP-US 12 121766167 121766167 single base substitution T C exon_variant KIRP-US 12 121766167 121766167 single base substitution T C missense_variant D307G 920A>G KIRP-US 12 121766167 121766167 single base substitution T C missense_variant D406G 1217A>G KIRP-US 12 121766167 121766167 single base substitution T C missense_variant D419G 1256A>G KIRP-US 12 121766167 121766167 single base substitution T C missense_variant D85G 254A>G KIRP-US 12 121766168 121766168 single base substitution C A downstream_gene_variant KIRP-US 12 121766168 121766168 single base substitution C A exon_variant KIRP-US 12 121766168 121766168 single base substitution C A missense_variant D307Y 919G>T KIRP-US 12 121766168 121766168 single base substitution C A missense_variant D406Y 1216G>T KIRP-US 12 121766168 121766168 single base substitution C A missense_variant D419Y 1255G>T KIRP-US 12 121766168 121766168 single base substitution C A missense_variant D85Y 253G>T LAML-KR 12 121746626 121746626 single base substitution G C intron_variant LAML-KR 12 121800338 121800338 single base substitution C G intron_variant LAML-KR 12 121816390 121816390 single base substitution G A intron_variant LGG-US 12 121769171 121769171 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LGG-US 12 121769171 121769171 single base substitution G A downstream_gene_variant LGG-US 12 121769171 121769171 single base substitution G A exon_variant LGG-US 12 121769171 121769171 single base substitution G A intron_variant LGG-US 12 121769171 121769171 single base substitution G A synonymous_variant H238H 714C>T LGG-US 12 121769171 121769171 single base substitution G A synonymous_variant H337H 1011C>T LGG-US 12 121769171 121769171 single base substitution G A upstream_gene_variant LGG-US 12 121790075 121790075 single base substitution C G 5_prime_UTR_variant LGG-US 12 121790075 121790075 single base substitution C G exon_variant LGG-US 12 121790075 121790075 single base substitution C G intron_variant LGG-US 12 121790075 121790075 single base substitution C G synonymous_variant V23V 69G>C LGG-US 12 121790075 121790075 single base substitution C G upstream_gene_variant LICA-CN 12 121756173 121756173 single base substitution C T downstream_gene_variant LICA-CN 12 121756173 121756173 single base substitution C T exon_variant LICA-CN 12 121756173 121756173 single base substitution C T intron_variant LICA-CN 12 121756173 121756173 single base substitution C T synonymous_variant A266A 798G>A LICA-CN 12 121756173 121756173 single base substitution C T synonymous_variant A488A 1464G>A LICA-CN 12 121756173 121756173 single base substitution C T synonymous_variant A587A 1761G>A LICA-CN 12 121756173 121756173 single base substitution C T synonymous_variant A600A 1800G>A LICA-FR 12 121765428 121765428 single base substitution C T downstream_gene_variant LICA-FR 12 121765428 121765428 single base substitution C T exon_variant LICA-FR 12 121765428 121765428 single base substitution C T intron_variant LICA-FR 12 121775094 121775094 single base substitution C A splice_region_variant LICA-FR 12 121775094 121775094 single base substitution C A upstream_gene_variant LICA-FR 12 121775483 121775483 single base substitution C T intron_variant LICA-FR 12 121775483 121775483 single base substitution C T upstream_gene_variant LICA-FR 12 121776913 121776913 single base substitution A G intron_variant LICA-FR 12 121776913 121776913 single base substitution A G upstream_gene_variant LICA-FR 12 121778120 121778120 insertion of <=200bp - A intron_variant LICA-FR 12 121778120 121778120 insertion of <=200bp - A upstream_gene_variant LICA-FR 12 121791789 121791790 deletion of <=200bp TT - intron_variant LICA-FR 12 121791789 121791790 deletion of <=200bp TT - upstream_gene_variant LICA-FR 12 121793321 121793321 single base substitution C T intron_variant LICA-FR 12 121793321 121793321 single base substitution C T upstream_gene_variant LICA-FR 12 121798392 121798392 deletion of <=200bp T - intron_variant LICA-FR 12 121808944 121808944 single base substitution T C intron_variant LICA-FR 12 121830436 121830436 single base substitution T C intron_variant LICA-FR 12 121842664 121842664 single base substitution C G upstream_gene_variant LIHC-US 12 121783834 121783834 deletion of <=200bp C - downstream_gene_variant LIHC-US 12 121783834 121783834 deletion of <=200bp C - exon_variant LIHC-US 12 121783834 121783834 deletion of <=200bp C - frameshift_variant G12 LIHC-US 12 121783834 121783834 deletion of <=200bp C - frameshift_variant G133 LIHC-US 12 121783834 121783834 deletion of <=200bp C - frameshift_variant G181 LIHC-US 12 121783834 121783834 deletion of <=200bp C - frameshift_variant G34 LIHC-US 12 121783834 121783834 deletion of <=200bp C - splice_region_variant LIHC-US 12 121783834 121783834 deletion of <=200bp C - upstream_gene_variant LINC-JP 12 121754606 121754606 single base substitution G A downstream_gene_variant LINC-JP 12 121754606 121754606 single base substitution G A intron_variant LINC-JP 12 121757479 121757479 single base substitution A G intron_variant LINC-JP 12 121773399 121773399 single base substitution T C exon_variant LINC-JP 12 121773399 121773399 single base substitution T C intron_variant LINC-JP 12 121773399 121773399 single base substitution T C missense_variant Y175C 524A>G LINC-JP 12 121773399 121773399 single base substitution T C missense_variant Y197C 590A>G LINC-JP 12 121773399 121773399 single base substitution T C missense_variant Y296C 887A>G LINC-JP 12 121773399 121773399 single base substitution T C upstream_gene_variant LINC-JP 12 121773620 121773620 single base substitution T C intron_variant LINC-JP 12 121773620 121773620 single base substitution T C upstream_gene_variant LINC-JP 12 121774021 121774021 single base substitution T C intron_variant LINC-JP 12 121774021 121774021 single base substitution T C upstream_gene_variant LINC-JP 12 121783711 121783711 single base substitution T C downstream_gene_variant LINC-JP 12 121783711 121783711 single base substitution T C exon_variant LINC-JP 12 121783711 121783711 single base substitution T C missense_variant D174G 521A>G LINC-JP 12 121783711 121783711 single base substitution T C missense_variant D53G 158A>G LINC-JP 12 121783711 121783711 single base substitution T C missense_variant D75G 224A>G LINC-JP 12 121783711 121783711 single base substitution T C upstream_gene_variant LINC-JP 12 121783810 121783810 single base substitution A C downstream_gene_variant LINC-JP 12 121783810 121783810 single base substitution A C exon_variant LINC-JP 12 121783810 121783810 single base substitution A C intron_variant LINC-JP 12 121783810 121783810 single base substitution A C missense_variant L141W 422T>G LINC-JP 12 121783810 121783810 single base substitution A C missense_variant L189W 566T>G LINC-JP 12 121783810 121783810 single base substitution A C missense_variant L20W 59T>G LINC-JP 12 121783810 121783810 single base substitution A C missense_variant L42W 125T>G LINC-JP 12 121783810 121783810 single base substitution A C upstream_gene_variant LINC-JP 12 121787173 121787173 single base substitution G A intron_variant LINC-JP 12 121787173 121787173 single base substitution G A upstream_gene_variant LINC-JP 12 121790544 121790544 single base substitution C G intron_variant LINC-JP 12 121790544 121790544 single base substitution C G upstream_gene_variant LINC-JP 12 121791264 121791264 single base substitution A T intron_variant LINC-JP 12 121791264 121791264 single base substitution A T upstream_gene_variant LINC-JP 12 121791265 121791265 single base substitution G T intron_variant LINC-JP 12 121791265 121791265 single base substitution G T upstream_gene_variant LINC-JP 12 121793293 121793293 single base substitution G A intron_variant LINC-JP 12 121793293 121793293 single base substitution G A upstream_gene_variant LINC-JP 12 121803263 121803263 single base substitution G A intron_variant LINC-JP 12 121809595 121809595 deletion of <=200bp T - intron_variant LINC-JP 12 121817167 121817167 single base substitution C T intron_variant LINC-JP 12 121820189 121820189 single base substitution G C intron_variant LINC-JP 12 121825997 121826006 deletion of <=200bp ACACACACAC - intron_variant LINC-JP 12 121835478 121835478 single base substitution G T intron_variant LINC-JP 12 121836188 121836188 single base substitution T A intron_variant LIRI-JP 12 121743722 121743722 single base substitution C A downstream_gene_variant LIRI-JP 12 121744968 121744968 single base substitution G A downstream_gene_variant LIRI-JP 12 121745959 121745959 single base substitution T C downstream_gene_variant LIRI-JP 12 121749747 121749747 single base substitution T C intron_variant LIRI-JP 12 121749747 121749747 single base substitution T C upstream_gene_variant LIRI-JP 12 121751515 121751515 single base substitution T G downstream_gene_variant LIRI-JP 12 121751515 121751515 single base substitution T G intron_variant LIRI-JP 12 121751515 121751515 single base substitution T G upstream_gene_variant LIRI-JP 12 121752004 121752004 single base substitution A G downstream_gene_variant LIRI-JP 12 121752004 121752004 single base substitution A G intron_variant LIRI-JP 12 121752004 121752004 single base substitution A G upstream_gene_variant LIRI-JP 12 121754284 121754284 single base substitution C T downstream_gene_variant LIRI-JP 12 121754284 121754284 single base substitution C T intron_variant LIRI-JP 12 121757889 121757889 single base substitution C A intron_variant LIRI-JP 12 121760820 121760820 single base substitution T A downstream_gene_variant LIRI-JP 12 121760820 121760820 single base substitution T A intron_variant LIRI-JP 12 121760820 121760820 single base substitution T A upstream_gene_variant LIRI-JP 12 121765074 121765074 single base substitution G A downstream_gene_variant LIRI-JP 12 121765074 121765074 single base substitution G A exon_variant LIRI-JP 12 121765074 121765074 single base substitution G A intron_variant LIRI-JP 12 121767698 121767698 single base substitution G A downstream_gene_variant LIRI-JP 12 121767698 121767698 single base substitution G A intron_variant LIRI-JP 12 121767698 121767698 single base substitution G A upstream_gene_variant LIRI-JP 12 121769112 121769112 single base substitution C T 5_prime_UTR_variant LIRI-JP 12 121769112 121769112 single base substitution C T downstream_gene_variant LIRI-JP 12 121769112 121769112 single base substitution C T exon_variant LIRI-JP 12 121769112 121769112 single base substitution C T intron_variant LIRI-JP 12 121769112 121769112 single base substitution C T upstream_gene_variant LIRI-JP 12 121770017 121770017 single base substitution T C downstream_gene_variant LIRI-JP 12 121770017 121770017 single base substitution T C exon_variant LIRI-JP 12 121770017 121770017 single base substitution T C intron_variant LIRI-JP 12 121770017 121770017 single base substitution T C upstream_gene_variant LIRI-JP 12 121770656 121770656 single base substitution T C downstream_gene_variant LIRI-JP 12 121770656 121770656 single base substitution T C exon_variant LIRI-JP 12 121770656 121770656 single base substitution T C intron_variant LIRI-JP 12 121770656 121770656 single base substitution T C upstream_gene_variant LIRI-JP 12 121771985 121771985 single base substitution G C downstream_gene_variant LIRI-JP 12 121771985 121771985 single base substitution G C exon_variant LIRI-JP 12 121771985 121771985 single base substitution G C intron_variant LIRI-JP 12 121771985 121771985 single base substitution G C upstream_gene_variant LIRI-JP 12 121772558 121772558 single base substitution T C downstream_gene_variant LIRI-JP 12 121772558 121772558 single base substitution T C exon_variant LIRI-JP 12 121772558 121772558 single base substitution T C intron_variant LIRI-JP 12 121772558 121772558 single base substitution T C upstream_gene_variant LIRI-JP 12 121773850 121773850 single base substitution C G intron_variant LIRI-JP 12 121773850 121773850 single base substitution C G upstream_gene_variant LIRI-JP 12 121777382 121777382 single base substitution T C intron_variant LIRI-JP 12 121777382 121777382 single base substitution T C upstream_gene_variant LIRI-JP 12 121779135 121779135 single base substitution T A downstream_gene_variant LIRI-JP 12 121779135 121779135 single base substitution T A intron_variant LIRI-JP 12 121779135 121779135 single base substitution T A upstream_gene_variant LIRI-JP 12 121779201 121779201 single base substitution A T downstream_gene_variant LIRI-JP 12 121779201 121779201 single base substitution A T intron_variant LIRI-JP 12 121779201 121779201 single base substitution A T upstream_gene_variant LIRI-JP 12 121783338 121783338 single base substitution G T downstream_gene_variant LIRI-JP 12 121783338 121783338 single base substitution G T intron_variant LIRI-JP 12 121783338 121783338 single base substitution G T upstream_gene_variant LIRI-JP 12 121784813 121784813 single base substitution A C exon_variant LIRI-JP 12 121784813 121784813 single base substitution A C splice_region_variant LIRI-JP 12 121784813 121784813 single base substitution A C upstream_gene_variant LIRI-JP 12 121788831 121788831 single base substitution T C intron_variant LIRI-JP 12 121788831 121788831 single base substitution T C upstream_gene_variant LIRI-JP 12 121791697 121791697 single base substitution C G intron_variant LIRI-JP 12 121791697 121791697 single base substitution C G upstream_gene_variant LIRI-JP 12 121794917 121794917 single base substitution A G intron_variant LIRI-JP 12 121794917 121794917 single base substitution A G upstream_gene_variant LIRI-JP 12 121795870 121795870 single base substitution A G intron_variant LIRI-JP 12 121796617 121796617 single base substitution A C intron_variant LIRI-JP 12 121797131 121797131 single base substitution G A intron_variant LIRI-JP 12 121798479 121798479 single base substitution G A intron_variant LIRI-JP 12 121803938 121803938 single base substitution A G intron_variant LIRI-JP 12 121803951 121803951 single base substitution A T intron_variant LIRI-JP 12 121805123 121805123 single base substitution G T intron_variant LIRI-JP 12 121805254 121805254 single base substitution C T intron_variant LIRI-JP 12 121806877 121806877 single base substitution T C intron_variant LIRI-JP 12 121807080 121807080 single base substitution T C intron_variant LIRI-JP 12 121808725 121808725 single base substitution G C intron_variant LIRI-JP 12 121809276 121809276 single base substitution T C intron_variant LIRI-JP 12 121809869 121809869 single base substitution A G intron_variant LIRI-JP 12 121811036 121811036 single base substitution G A intron_variant LIRI-JP 12 121811201 121811201 single base substitution T C intron_variant LIRI-JP 12 121813599 121813599 single base substitution C T intron_variant LIRI-JP 12 121814640 121814640 single base substitution G T intron_variant LIRI-JP 12 121818535 121818535 single base substitution G A intron_variant LIRI-JP 12 121818652 121818652 single base substitution T A intron_variant LIRI-JP 12 121818854 121818854 single base substitution A G intron_variant LIRI-JP 12 121820548 121820548 single base substitution G C intron_variant LIRI-JP 12 121821436 121821436 single base substitution T A intron_variant LIRI-JP 12 121822225 121822225 single base substitution G T intron_variant LIRI-JP 12 121823718 121823718 single base substitution C G intron_variant LIRI-JP 12 121824183 121824183 single base substitution G T intron_variant LIRI-JP 12 121826108 121826108 single base substitution C T intron_variant LIRI-JP 12 121827726 121827726 single base substitution T C intron_variant LIRI-JP 12 121830469 121830469 single base substitution A G intron_variant LIRI-JP 12 121831292 121831292 single base substitution T A intron_variant LIRI-JP 12 121832292 121832292 single base substitution G A intron_variant LIRI-JP 12 121842675 121842675 single base substitution A C upstream_gene_variant LUSC-KR 12 121743069 121743069 single base substitution G A downstream_gene_variant LUSC-KR 12 121744274 121744274 single base substitution C A downstream_gene_variant LUSC-KR 12 121747290 121747290 single base substitution T C intron_variant LUSC-KR 12 121750149 121750149 single base substitution C A intron_variant LUSC-KR 12 121750149 121750149 single base substitution C A upstream_gene_variant LUSC-KR 12 121754265 121754265 single base substitution G C downstream_gene_variant LUSC-KR 12 121754265 121754265 single base substitution G C intron_variant LUSC-KR 12 121754274 121754274 single base substitution C T downstream_gene_variant LUSC-KR 12 121754274 121754274 single base substitution C T intron_variant LUSC-KR 12 121755838 121755838 single base substitution A G downstream_gene_variant LUSC-KR 12 121755838 121755838 single base substitution A G exon_variant LUSC-KR 12 121755838 121755838 single base substitution A G intron_variant LUSC-KR 12 121758031 121758031 single base substitution A G intron_variant LUSC-KR 12 121764571 121764571 single base substitution G C downstream_gene_variant LUSC-KR 12 121764571 121764571 single base substitution G C intron_variant LUSC-KR 12 121764577 121764577 single base substitution C G downstream_gene_variant LUSC-KR 12 121764577 121764577 single base substitution C G intron_variant LUSC-KR 12 121766490 121766490 single base substitution G A downstream_gene_variant LUSC-KR 12 121766490 121766490 single base substitution G A intron_variant LUSC-KR 12 121769935 121769935 single base substitution G C downstream_gene_variant LUSC-KR 12 121769935 121769935 single base substitution G C exon_variant LUSC-KR 12 121769935 121769935 single base substitution G C intron_variant LUSC-KR 12 121769935 121769935 single base substitution G C upstream_gene_variant LUSC-KR 12 121783703 121783703 single base substitution G A downstream_gene_variant LUSC-KR 12 121783703 121783703 single base substitution G A exon_variant LUSC-KR 12 121783703 121783703 single base substitution G A synonymous_variant L177L 529C>T LUSC-KR 12 121783703 121783703 single base substitution G A synonymous_variant L56L 166C>T LUSC-KR 12 121783703 121783703 single base substitution G A synonymous_variant L78L 232C>T LUSC-KR 12 121783703 121783703 single base substitution G A upstream_gene_variant LUSC-KR 12 121785342 121785342 single base substitution G A exon_variant LUSC-KR 12 121785342 121785342 single base substitution G A intron_variant LUSC-KR 12 121785342 121785342 single base substitution G A upstream_gene_variant LUSC-KR 12 121788821 121788821 single base substitution G A intron_variant LUSC-KR 12 121788821 121788821 single base substitution G A upstream_gene_variant LUSC-KR 12 121789755 121789755 single base substitution T C intron_variant LUSC-KR 12 121789755 121789755 single base substitution T C upstream_gene_variant LUSC-KR 12 121790524 121790524 single base substitution G T intron_variant LUSC-KR 12 121790524 121790524 single base substitution G T upstream_gene_variant LUSC-KR 12 121791936 121791936 single base substitution C G intron_variant LUSC-KR 12 121791936 121791936 single base substitution C G upstream_gene_variant LUSC-KR 12 121795581 121795581 single base substitution G T intron_variant LUSC-KR 12 121795822 121795822 single base substitution C G intron_variant LUSC-KR 12 121798411 121798411 single base substitution G T intron_variant LUSC-KR 12 121799821 121799821 single base substitution A G intron_variant LUSC-KR 12 121807709 121807709 single base substitution G T intron_variant LUSC-KR 12 121808377 121808377 single base substitution G A intron_variant LUSC-KR 12 121809940 121809940 single base substitution A T intron_variant LUSC-KR 12 121811058 121811058 single base substitution G A intron_variant LUSC-KR 12 121811571 121811571 single base substitution C A intron_variant LUSC-KR 12 121819451 121819451 single base substitution T A intron_variant LUSC-KR 12 121821318 121821318 single base substitution G T intron_variant LUSC-KR 12 121822016 121822016 single base substitution C A intron_variant LUSC-KR 12 121824362 121824362 single base substitution G A intron_variant LUSC-KR 12 121824550 121824550 single base substitution C T intron_variant LUSC-KR 12 121824684 121824684 single base substitution G A intron_variant LUSC-KR 12 121826530 121826530 single base substitution G A intron_variant LUSC-KR 12 121827665 121827665 single base substitution G A intron_variant LUSC-KR 12 121833808 121833808 single base substitution C A intron_variant LUSC-KR 12 121837952 121837952 single base substitution T A upstream_gene_variant LUSC-KR 12 121838503 121838503 single base substitution C G upstream_gene_variant LUSC-KR 12 121840925 121840925 single base substitution C T upstream_gene_variant LUSC-US 12 121746350 121746350 single base substitution G A 3_prime_UTR_variant LUSC-US 12 121746350 121746350 single base substitution G A exon_variant LUSC-US 12 121746350 121746350 single base substitution G A missense_variant A400V 1199C>T LUSC-US 12 121746350 121746350 single base substitution G A missense_variant A622V 1865C>T LUSC-US 12 121746350 121746350 single base substitution G A missense_variant A721V 2162C>T LUSC-US 12 121746350 121746350 single base substitution G A missense_variant A734V 2201C>T LUSC-US 12 121766123 121766123 single base substitution G A downstream_gene_variant LUSC-US 12 121766123 121766123 single base substitution G A exon_variant LUSC-US 12 121766123 121766123 single base substitution G A missense_variant R100C 298C>T LUSC-US 12 121766123 121766123 single base substitution G A missense_variant R322C 964C>T LUSC-US 12 121766123 121766123 single base substitution G A missense_variant R421C 1261C>T LUSC-US 12 121766123 121766123 single base substitution G A missense_variant R434C 1300C>T LUSC-US 12 121773465 121773465 single base substitution A G exon_variant LUSC-US 12 121773465 121773465 single base substitution A G intron_variant LUSC-US 12 121773465 121773465 single base substitution A G missense_variant L153P 458T>C LUSC-US 12 121773465 121773465 single base substitution A G missense_variant L175P 524T>C LUSC-US 12 121773465 121773465 single base substitution A G missense_variant L274P 821T>C LUSC-US 12 121773465 121773465 single base substitution A G upstream_gene_variant LUSC-US 12 121775156 121775156 single base substitution G T exon_variant LUSC-US 12 121775156 121775156 single base substitution G T missense_variant P112T 334C>A LUSC-US 12 121775156 121775156 single base substitution G T missense_variant P134T 400C>A LUSC-US 12 121775156 121775156 single base substitution G T missense_variant P233T 697C>A LUSC-US 12 121775156 121775156 single base substitution G T upstream_gene_variant LUSC-US 12 121789999 121789999 single base substitution C A 5_prime_UTR_variant LUSC-US 12 121789999 121789999 single base substitution C A exon_variant LUSC-US 12 121789999 121789999 single base substitution C A intron_variant LUSC-US 12 121789999 121789999 single base substitution C A stop_gained E49* 145G>T LUSC-US 12 121789999 121789999 single base substitution C A upstream_gene_variant MALY-DE 12 121741459 121741459 single base substitution G A downstream_gene_variant MALY-DE 12 121749080 121749080 single base substitution G A intron_variant MALY-DE 12 121749080 121749080 single base substitution G A upstream_gene_variant MALY-DE 12 121749731 121749731 single base substitution C G intron_variant MALY-DE 12 121749731 121749731 single base substitution C G upstream_gene_variant MALY-DE 12 121750350 121750350 deletion of <=200bp A - intron_variant MALY-DE 12 121750350 121750350 deletion of <=200bp A - upstream_gene_variant MALY-DE 12 121752307 121752307 single base substitution T G downstream_gene_variant MALY-DE 12 121752307 121752307 single base substitution T G intron_variant MALY-DE 12 121752307 121752307 single base substitution T G upstream_gene_variant MALY-DE 12 121756230 121756230 single base substitution G T downstream_gene_variant MALY-DE 12 121756230 121756230 single base substitution G T exon_variant MALY-DE 12 121756230 121756230 single base substitution G T intron_variant MALY-DE 12 121756230 121756230 single base substitution G T splice_region_variant MALY-DE 12 121756918 121756919 deletion of <=200bp AC - intron_variant MALY-DE 12 121757309 121757334 deletion of <=200bp TTACAGGTGTAAGTCACCATGCCCAG - intron_variant MALY-DE 12 121761889 121761889 single base substitution A G downstream_gene_variant MALY-DE 12 121761889 121761889 single base substitution A G intron_variant MALY-DE 12 121761889 121761889 single base substitution A G upstream_gene_variant MALY-DE 12 121762342 121762342 single base substitution C T downstream_gene_variant MALY-DE 12 121762342 121762342 single base substitution C T intron_variant MALY-DE 12 121762342 121762342 single base substitution C T upstream_gene_variant MALY-DE 12 121787379 121787379 single base substitution A T intron_variant MALY-DE 12 121787379 121787379 single base substitution A T upstream_gene_variant MALY-DE 12 121789980 121789980 single base substitution A G 5_prime_UTR_variant MALY-DE 12 121789980 121789980 single base substitution A G exon_variant MALY-DE 12 121789980 121789980 single base substitution A G intron_variant MALY-DE 12 121789980 121789980 single base substitution A G missense_variant M55T 164T>C MALY-DE 12 121789980 121789980 single base substitution A G upstream_gene_variant MALY-DE 12 121790047 121790047 single base substitution A G 5_prime_UTR_variant MALY-DE 12 121790047 121790047 single base substitution A G exon_variant MALY-DE 12 121790047 121790047 single base substitution A G intron_variant MALY-DE 12 121790047 121790047 single base substitution A G missense_variant Y33H 97T>C MALY-DE 12 121790047 121790047 single base substitution A G upstream_gene_variant MALY-DE 12 121791205 121791205 single base substitution T C intron_variant MALY-DE 12 121791205 121791205 single base substitution T C upstream_gene_variant MALY-DE 12 121791282 121791282 single base substitution C T intron_variant MALY-DE 12 121791282 121791282 single base substitution C T upstream_gene_variant MALY-DE 12 121792101 121792101 single base substitution G A intron_variant MALY-DE 12 121792101 121792101 single base substitution G A upstream_gene_variant MALY-DE 12 121797978 121797978 single base substitution G A intron_variant MALY-DE 12 121798067 121798067 single base substitution A C intron_variant MALY-DE 12 121802480 121802481 deletion of <=200bp AG - intron_variant MALY-DE 12 121803918 121803918 deletion of <=200bp A - intron_variant MALY-DE 12 121810394 121810394 single base substitution G A intron_variant MALY-DE 12 121811410 121811410 deletion of <=200bp A - intron_variant MALY-DE 12 121822244 121822244 single base substitution A T intron_variant MALY-DE 12 121827558 121827558 single base substitution A C intron_variant MALY-DE 12 121832164 121832164 single base substitution G A intron_variant MALY-DE 12 121833290 121833290 single base substitution T C intron_variant MALY-DE 12 121835804 121835804 single base substitution C T intron_variant MALY-DE 12 121839099 121839099 single base substitution A C upstream_gene_variant MELA-AU 12 121741259 121741259 single base substitution C T downstream_gene_variant MELA-AU 12 121741283 121741283 single base substitution T C downstream_gene_variant MELA-AU 12 121742783 121742783 single base substitution G A downstream_gene_variant MELA-AU 12 121742819 121742820 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 121742891 121742891 single base substitution C T downstream_gene_variant MELA-AU 12 121743222 121743222 deletion of <=200bp T - downstream_gene_variant MELA-AU 12 121743591 121743591 single base substitution G A downstream_gene_variant MELA-AU 12 121743635 121743635 single base substitution G A downstream_gene_variant MELA-AU 12 121743841 121743841 single base substitution G A downstream_gene_variant MELA-AU 12 121744789 121744789 single base substitution G A downstream_gene_variant MELA-AU 12 121744905 121744905 single base substitution C T downstream_gene_variant MELA-AU 12 121745973 121745973 single base substitution G A downstream_gene_variant MELA-AU 12 121746215 121746215 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121746215 121746215 single base substitution G A downstream_gene_variant MELA-AU 12 121746215 121746215 single base substitution G A exon_variant MELA-AU 12 121746273 121746273 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121746273 121746273 single base substitution G A downstream_gene_variant MELA-AU 12 121746273 121746273 single base substitution G A exon_variant MELA-AU 12 121746292 121746292 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121746292 121746292 single base substitution G A exon_variant MELA-AU 12 121746292 121746292 single base substitution G A synonymous_variant N419N 1257C>T MELA-AU 12 121746292 121746292 single base substitution G A synonymous_variant N641N 1923C>T MELA-AU 12 121746292 121746292 single base substitution G A synonymous_variant N740N 2220C>T MELA-AU 12 121746292 121746292 single base substitution G A synonymous_variant N753N 2259C>T MELA-AU 12 121746508 121746508 single base substitution G A intron_variant MELA-AU 12 121746533 121746533 single base substitution A T intron_variant MELA-AU 12 121747260 121747260 single base substitution A G intron_variant MELA-AU 12 121747525 121747525 single base substitution C T 3_prime_UTR_variant MELA-AU 12 121747525 121747525 single base substitution C T exon_variant MELA-AU 12 121747525 121747525 single base substitution C T missense_variant D345N 1033G>A MELA-AU 12 121747525 121747525 single base substitution C T missense_variant D567N 1699G>A MELA-AU 12 121747525 121747525 single base substitution C T missense_variant D666N 1996G>A MELA-AU 12 121747525 121747525 single base substitution C T missense_variant D679N 2035G>A MELA-AU 12 121747804 121747804 single base substitution G A exon_variant MELA-AU 12 121747804 121747804 single base substitution G A intron_variant MELA-AU 12 121747966 121747966 single base substitution G A exon_variant MELA-AU 12 121747966 121747966 single base substitution G A intron_variant MELA-AU 12 121747967 121747967 single base substitution G A exon_variant MELA-AU 12 121747967 121747967 single base substitution G A intron_variant MELA-AU 12 121748001 121748001 single base substitution A G exon_variant MELA-AU 12 121748001 121748001 single base substitution A G intron_variant MELA-AU 12 121748556 121748556 single base substitution G A intron_variant MELA-AU 12 121748556 121748556 single base substitution G A upstream_gene_variant MELA-AU 12 121749318 121749318 single base substitution G A intron_variant MELA-AU 12 121749318 121749318 single base substitution G A upstream_gene_variant MELA-AU 12 121749735 121749735 single base substitution G A intron_variant MELA-AU 12 121749735 121749735 single base substitution G A upstream_gene_variant MELA-AU 12 121749938 121749938 single base substitution T A intron_variant MELA-AU 12 121749938 121749938 single base substitution T A upstream_gene_variant MELA-AU 12 121749962 121749962 single base substitution G A intron_variant MELA-AU 12 121749962 121749962 single base substitution G A upstream_gene_variant MELA-AU 12 121750527 121750527 single base substitution A T intron_variant MELA-AU 12 121750527 121750527 single base substitution A T upstream_gene_variant MELA-AU 12 121751403 121751403 single base substitution G A downstream_gene_variant MELA-AU 12 121751403 121751403 single base substitution G A intron_variant MELA-AU 12 121751403 121751403 single base substitution G A upstream_gene_variant MELA-AU 12 121751644 121751644 single base substitution C T downstream_gene_variant MELA-AU 12 121751644 121751644 single base substitution C T intron_variant MELA-AU 12 121751644 121751644 single base substitution C T upstream_gene_variant MELA-AU 12 121752318 121752318 single base substitution G A downstream_gene_variant MELA-AU 12 121752318 121752318 single base substitution G A intron_variant MELA-AU 12 121752318 121752318 single base substitution G A upstream_gene_variant MELA-AU 12 121752407 121752407 single base substitution G A downstream_gene_variant MELA-AU 12 121752407 121752407 single base substitution G A intron_variant MELA-AU 12 121752407 121752407 single base substitution G A upstream_gene_variant MELA-AU 12 121752642 121752642 single base substitution C T downstream_gene_variant MELA-AU 12 121752642 121752642 single base substitution C T intron_variant MELA-AU 12 121752642 121752642 single base substitution C T upstream_gene_variant MELA-AU 12 121752707 121752707 single base substitution G A downstream_gene_variant MELA-AU 12 121752707 121752707 single base substitution G A intron_variant MELA-AU 12 121752707 121752707 single base substitution G A upstream_gene_variant MELA-AU 12 121752722 121752722 single base substitution G A downstream_gene_variant MELA-AU 12 121752722 121752722 single base substitution G A intron_variant MELA-AU 12 121752722 121752722 single base substitution G A upstream_gene_variant MELA-AU 12 121753094 121753094 single base substitution G A downstream_gene_variant MELA-AU 12 121753094 121753094 single base substitution G A intron_variant MELA-AU 12 121753094 121753094 single base substitution G A upstream_gene_variant MELA-AU 12 121753396 121753396 single base substitution G A downstream_gene_variant MELA-AU 12 121753396 121753396 single base substitution G A intron_variant MELA-AU 12 121753727 121753727 single base substitution A G downstream_gene_variant MELA-AU 12 121753727 121753727 single base substitution A G intron_variant MELA-AU 12 121755027 121755027 single base substitution G A downstream_gene_variant MELA-AU 12 121755027 121755027 single base substitution G A intron_variant MELA-AU 12 121755028 121755028 single base substitution G A downstream_gene_variant MELA-AU 12 121755028 121755028 single base substitution G A intron_variant MELA-AU 12 121755475 121755475 single base substitution G A downstream_gene_variant MELA-AU 12 121755475 121755475 single base substitution G A intron_variant MELA-AU 12 121756251 121756251 single base substitution G A downstream_gene_variant MELA-AU 12 121756251 121756251 single base substitution G A exon_variant MELA-AU 12 121756251 121756251 single base substitution G A intron_variant MELA-AU 12 121756614 121756614 single base substitution G A intron_variant MELA-AU 12 121757229 121757229 single base substitution G A intron_variant MELA-AU 12 121757763 121757763 single base substitution T A intron_variant MELA-AU 12 121757989 121757989 single base substitution C G intron_variant MELA-AU 12 121758108 121758108 single base substitution G A intron_variant MELA-AU 12 121758540 121758540 single base substitution G A exon_variant MELA-AU 12 121758540 121758540 single base substitution G A intron_variant MELA-AU 12 121758628 121758628 single base substitution G A exon_variant MELA-AU 12 121758628 121758628 single base substitution G A intron_variant MELA-AU 12 121758844 121758844 single base substitution G A exon_variant MELA-AU 12 121758844 121758844 single base substitution G A intron_variant MELA-AU 12 121758872 121758872 single base substitution G A exon_variant MELA-AU 12 121758872 121758872 single base substitution G A intron_variant MELA-AU 12 121759614 121759614 single base substitution T A downstream_gene_variant MELA-AU 12 121759614 121759614 single base substitution T A intron_variant MELA-AU 12 121759614 121759614 single base substitution T A upstream_gene_variant MELA-AU 12 121760231 121760231 single base substitution G A downstream_gene_variant MELA-AU 12 121760231 121760231 single base substitution G A intron_variant MELA-AU 12 121760231 121760231 single base substitution G A upstream_gene_variant MELA-AU 12 121760390 121760390 single base substitution G A downstream_gene_variant MELA-AU 12 121760390 121760390 single base substitution G A intron_variant MELA-AU 12 121760390 121760390 single base substitution G A upstream_gene_variant MELA-AU 12 121761774 121761774 single base substitution G A downstream_gene_variant MELA-AU 12 121761774 121761774 single base substitution G A intron_variant MELA-AU 12 121761774 121761774 single base substitution G A upstream_gene_variant MELA-AU 12 121761959 121761959 single base substitution G A downstream_gene_variant MELA-AU 12 121761959 121761959 single base substitution G A intron_variant MELA-AU 12 121761959 121761959 single base substitution G A upstream_gene_variant MELA-AU 12 121762041 121762041 single base substitution A G downstream_gene_variant MELA-AU 12 121762041 121762041 single base substitution A G intron_variant MELA-AU 12 121762041 121762041 single base substitution A G upstream_gene_variant MELA-AU 12 121763663 121763663 single base substitution C T downstream_gene_variant MELA-AU 12 121763663 121763663 single base substitution C T intron_variant MELA-AU 12 121763663 121763663 single base substitution C T upstream_gene_variant MELA-AU 12 121763846 121763846 single base substitution C T downstream_gene_variant MELA-AU 12 121763846 121763846 single base substitution C T intron_variant MELA-AU 12 121763846 121763846 single base substitution C T upstream_gene_variant MELA-AU 12 121764132 121764132 single base substitution G A downstream_gene_variant MELA-AU 12 121764132 121764132 single base substitution G A intron_variant MELA-AU 12 121764133 121764133 single base substitution G A downstream_gene_variant MELA-AU 12 121764133 121764133 single base substitution G A intron_variant MELA-AU 12 121764664 121764664 single base substitution G A downstream_gene_variant MELA-AU 12 121764664 121764664 single base substitution G A intron_variant MELA-AU 12 121764884 121764884 single base substitution C T downstream_gene_variant MELA-AU 12 121764884 121764884 single base substitution C T intron_variant MELA-AU 12 121765420 121765420 single base substitution G A downstream_gene_variant MELA-AU 12 121765420 121765420 single base substitution G A exon_variant MELA-AU 12 121765420 121765420 single base substitution G A intron_variant MELA-AU 12 121765536 121765536 single base substitution A C downstream_gene_variant MELA-AU 12 121765536 121765536 single base substitution A C exon_variant MELA-AU 12 121765536 121765536 single base substitution A C intron_variant MELA-AU 12 121765937 121765937 single base substitution G A downstream_gene_variant MELA-AU 12 121765937 121765937 single base substitution G A exon_variant MELA-AU 12 121765937 121765937 single base substitution G A intron_variant MELA-AU 12 121766323 121766323 single base substitution G A downstream_gene_variant MELA-AU 12 121766323 121766323 single base substitution G A intron_variant MELA-AU 12 121767023 121767023 single base substitution C T downstream_gene_variant MELA-AU 12 121767023 121767023 single base substitution C T intron_variant MELA-AU 12 121767023 121767023 single base substitution C T upstream_gene_variant MELA-AU 12 121767522 121767522 single base substitution G A downstream_gene_variant MELA-AU 12 121767522 121767522 single base substitution G A intron_variant MELA-AU 12 121767522 121767522 single base substitution G A upstream_gene_variant MELA-AU 12 121767638 121767638 single base substitution G A downstream_gene_variant MELA-AU 12 121767638 121767638 single base substitution G A intron_variant MELA-AU 12 121767638 121767638 single base substitution G A upstream_gene_variant MELA-AU 12 121767873 121767873 single base substitution G T downstream_gene_variant MELA-AU 12 121767873 121767873 single base substitution G T intron_variant MELA-AU 12 121767873 121767873 single base substitution G T upstream_gene_variant MELA-AU 12 121768696 121768696 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 121768696 121768696 single base substitution G A downstream_gene_variant MELA-AU 12 121768696 121768696 single base substitution G A exon_variant MELA-AU 12 121768696 121768696 single base substitution G A intron_variant MELA-AU 12 121768696 121768696 single base substitution G A upstream_gene_variant MELA-AU 12 121768949 121768949 single base substitution C T 5_prime_UTR_variant MELA-AU 12 121768949 121768949 single base substitution C T downstream_gene_variant MELA-AU 12 121768949 121768949 single base substitution C T exon_variant MELA-AU 12 121768949 121768949 single base substitution C T intron_variant MELA-AU 12 121768949 121768949 single base substitution C T upstream_gene_variant MELA-AU 12 121769368 121769368 single base substitution C T downstream_gene_variant MELA-AU 12 121769368 121769368 single base substitution C T exon_variant MELA-AU 12 121769368 121769368 single base substitution C T intron_variant MELA-AU 12 121769368 121769368 single base substitution C T upstream_gene_variant MELA-AU 12 121769711 121769711 single base substitution C A downstream_gene_variant MELA-AU 12 121769711 121769711 single base substitution C A exon_variant MELA-AU 12 121769711 121769711 single base substitution C A intron_variant MELA-AU 12 121769711 121769711 single base substitution C A upstream_gene_variant MELA-AU 12 121770359 121770359 single base substitution C T downstream_gene_variant MELA-AU 12 121770359 121770359 single base substitution C T exon_variant MELA-AU 12 121770359 121770359 single base substitution C T intron_variant MELA-AU 12 121770359 121770359 single base substitution C T upstream_gene_variant MELA-AU 12 121770519 121770519 single base substitution A T downstream_gene_variant MELA-AU 12 121770519 121770519 single base substitution A T exon_variant MELA-AU 12 121770519 121770519 single base substitution A T intron_variant MELA-AU 12 121770519 121770519 single base substitution A T upstream_gene_variant MELA-AU 12 121771814 121771814 single base substitution C A downstream_gene_variant MELA-AU 12 121771814 121771814 single base substitution C A exon_variant MELA-AU 12 121771814 121771814 single base substitution C A intron_variant MELA-AU 12 121771814 121771814 single base substitution C A upstream_gene_variant MELA-AU 12 121771845 121771845 single base substitution A T downstream_gene_variant MELA-AU 12 121771845 121771845 single base substitution A T exon_variant MELA-AU 12 121771845 121771845 single base substitution A T intron_variant MELA-AU 12 121771845 121771845 single base substitution A T upstream_gene_variant MELA-AU 12 121771863 121771863 single base substitution G A downstream_gene_variant MELA-AU 12 121771863 121771863 single base substitution G A exon_variant MELA-AU 12 121771863 121771863 single base substitution G A intron_variant MELA-AU 12 121771863 121771863 single base substitution G A upstream_gene_variant MELA-AU 12 121772132 121772132 single base substitution G A downstream_gene_variant MELA-AU 12 121772132 121772132 single base substitution G A exon_variant MELA-AU 12 121772132 121772132 single base substitution G A intron_variant MELA-AU 12 121772132 121772132 single base substitution G A upstream_gene_variant MELA-AU 12 121772439 121772439 single base substitution C A downstream_gene_variant MELA-AU 12 121772439 121772439 single base substitution C A exon_variant MELA-AU 12 121772439 121772439 single base substitution C A intron_variant MELA-AU 12 121772439 121772439 single base substitution C A upstream_gene_variant MELA-AU 12 121772460 121772460 single base substitution G A downstream_gene_variant MELA-AU 12 121772460 121772460 single base substitution G A exon_variant MELA-AU 12 121772460 121772460 single base substitution G A intron_variant MELA-AU 12 121772460 121772460 single base substitution G A upstream_gene_variant MELA-AU 12 121772753 121772753 single base substitution G A downstream_gene_variant MELA-AU 12 121772753 121772753 single base substitution G A exon_variant MELA-AU 12 121772753 121772753 single base substitution G A intron_variant MELA-AU 12 121772753 121772753 single base substitution G A upstream_gene_variant MELA-AU 12 121774240 121774240 single base substitution G A intron_variant MELA-AU 12 121774240 121774240 single base substitution G A upstream_gene_variant MELA-AU 12 121774410 121774410 single base substitution G A intron_variant MELA-AU 12 121774410 121774410 single base substitution G A upstream_gene_variant MELA-AU 12 121774612 121774612 single base substitution G A intron_variant MELA-AU 12 121774612 121774612 single base substitution G A upstream_gene_variant MELA-AU 12 121775967 121775967 single base substitution G A intron_variant MELA-AU 12 121775967 121775967 single base substitution G A upstream_gene_variant MELA-AU 12 121776945 121776945 single base substitution C T intron_variant MELA-AU 12 121776945 121776945 single base substitution C T upstream_gene_variant MELA-AU 12 121776987 121776987 single base substitution G A intron_variant MELA-AU 12 121776987 121776987 single base substitution G A upstream_gene_variant MELA-AU 12 121777038 121777038 single base substitution G A intron_variant MELA-AU 12 121777038 121777038 single base substitution G A upstream_gene_variant MELA-AU 12 121778491 121778491 single base substitution G A intron_variant MELA-AU 12 121778491 121778491 single base substitution G A upstream_gene_variant MELA-AU 12 121779094 121779094 single base substitution G A downstream_gene_variant MELA-AU 12 121779094 121779094 single base substitution G A intron_variant MELA-AU 12 121779094 121779094 single base substitution G A upstream_gene_variant MELA-AU 12 121779199 121779199 single base substitution G A downstream_gene_variant MELA-AU 12 121779199 121779199 single base substitution G A intron_variant MELA-AU 12 121779199 121779199 single base substitution G A upstream_gene_variant MELA-AU 12 121779201 121779201 single base substitution A T downstream_gene_variant MELA-AU 12 121779201 121779201 single base substitution A T intron_variant MELA-AU 12 121779201 121779201 single base substitution A T upstream_gene_variant MELA-AU 12 121780110 121780110 single base substitution G A downstream_gene_variant MELA-AU 12 121780110 121780110 single base substitution G A intron_variant MELA-AU 12 121780110 121780110 single base substitution G A upstream_gene_variant MELA-AU 12 121781482 121781482 single base substitution C G downstream_gene_variant MELA-AU 12 121781482 121781482 single base substitution C G intron_variant MELA-AU 12 121781482 121781482 single base substitution C G upstream_gene_variant MELA-AU 12 121782111 121782111 single base substitution G A downstream_gene_variant MELA-AU 12 121782111 121782111 single base substitution G A intron_variant MELA-AU 12 121782111 121782111 single base substitution G A upstream_gene_variant MELA-AU 12 121782643 121782643 single base substitution C T downstream_gene_variant MELA-AU 12 121782643 121782643 single base substitution C T intron_variant MELA-AU 12 121782643 121782643 single base substitution C T upstream_gene_variant MELA-AU 12 121782981 121782981 single base substitution T C downstream_gene_variant MELA-AU 12 121782981 121782981 single base substitution T C intron_variant MELA-AU 12 121782981 121782981 single base substitution T C upstream_gene_variant MELA-AU 12 121784930 121784930 single base substitution G A exon_variant MELA-AU 12 121784930 121784930 single base substitution G A intron_variant MELA-AU 12 121784930 121784930 single base substitution G A upstream_gene_variant MELA-AU 12 121785502 121785502 single base substitution G A exon_variant MELA-AU 12 121785502 121785502 single base substitution G A intron_variant MELA-AU 12 121785502 121785502 single base substitution G A upstream_gene_variant MELA-AU 12 121786695 121786695 single base substitution G A intron_variant MELA-AU 12 121786695 121786695 single base substitution G A upstream_gene_variant MELA-AU 12 121787043 121787043 single base substitution G A intron_variant MELA-AU 12 121787043 121787043 single base substitution G A upstream_gene_variant MELA-AU 12 121787985 121787985 single base substitution A C intron_variant MELA-AU 12 121787985 121787985 single base substitution A C upstream_gene_variant MELA-AU 12 121788011 121788011 single base substitution T A intron_variant MELA-AU 12 121788011 121788011 single base substitution T A upstream_gene_variant MELA-AU 12 121788467 121788467 single base substitution G A intron_variant MELA-AU 12 121788467 121788467 single base substitution G A upstream_gene_variant MELA-AU 12 121788840 121788840 single base substitution G A intron_variant MELA-AU 12 121788840 121788840 single base substitution G A upstream_gene_variant MELA-AU 12 121789155 121789155 single base substitution G A intron_variant MELA-AU 12 121789155 121789155 single base substitution G A upstream_gene_variant MELA-AU 12 121789355 121789356 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121789355 121789356 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 121790251 121790251 single base substitution G A 5_prime_UTR_variant MELA-AU 12 121790251 121790251 single base substitution G A intron_variant MELA-AU 12 121790251 121790251 single base substitution G A upstream_gene_variant MELA-AU 12 121791172 121791172 single base substitution C T intron_variant MELA-AU 12 121791172 121791172 single base substitution C T upstream_gene_variant MELA-AU 12 121791269 121791269 single base substitution G A intron_variant MELA-AU 12 121791269 121791269 single base substitution G A upstream_gene_variant MELA-AU 12 121791696 121791696 single base substitution C T intron_variant MELA-AU 12 121791696 121791696 single base substitution C T upstream_gene_variant MELA-AU 12 121791865 121791865 single base substitution C A intron_variant MELA-AU 12 121791865 121791865 single base substitution C A upstream_gene_variant MELA-AU 12 121792986 121792986 single base substitution C T intron_variant MELA-AU 12 121792986 121792986 single base substitution C T upstream_gene_variant MELA-AU 12 121794082 121794082 single base substitution A C intron_variant MELA-AU 12 121794082 121794082 single base substitution A C upstream_gene_variant MELA-AU 12 121794415 121794415 single base substitution C T intron_variant MELA-AU 12 121794415 121794415 single base substitution C T upstream_gene_variant MELA-AU 12 121794451 121794451 single base substitution C T intron_variant MELA-AU 12 121794451 121794451 single base substitution C T upstream_gene_variant MELA-AU 12 121794742 121794742 single base substitution C T intron_variant MELA-AU 12 121794742 121794742 single base substitution C T upstream_gene_variant MELA-AU 12 121795117 121795117 single base substitution G A intron_variant MELA-AU 12 121795117 121795117 single base substitution G A upstream_gene_variant MELA-AU 12 121795121 121795121 single base substitution G A intron_variant MELA-AU 12 121795121 121795121 single base substitution G A upstream_gene_variant MELA-AU 12 121795161 121795161 single base substitution G A intron_variant MELA-AU 12 121795161 121795161 single base substitution G A upstream_gene_variant MELA-AU 12 121795174 121795174 single base substitution G A intron_variant MELA-AU 12 121795174 121795174 single base substitution G A upstream_gene_variant MELA-AU 12 121795199 121795199 single base substitution G A intron_variant MELA-AU 12 121795199 121795199 single base substitution G A upstream_gene_variant MELA-AU 12 121795228 121795228 single base substitution A G intron_variant MELA-AU 12 121795228 121795228 single base substitution A G upstream_gene_variant MELA-AU 12 121795230 121795230 single base substitution A G intron_variant MELA-AU 12 121795230 121795230 single base substitution A G upstream_gene_variant MELA-AU 12 121795397 121795397 single base substitution G A intron_variant MELA-AU 12 121795409 121795409 single base substitution G A intron_variant MELA-AU 12 121795635 121795635 single base substitution G A intron_variant MELA-AU 12 121796123 121796123 single base substitution G A intron_variant MELA-AU 12 121796674 121796674 single base substitution T A intron_variant MELA-AU 12 121796718 121796718 single base substitution C T intron_variant MELA-AU 12 121797138 121797138 single base substitution G A intron_variant MELA-AU 12 121797144 121797144 single base substitution G A intron_variant MELA-AU 12 121797191 121797191 single base substitution C T intron_variant MELA-AU 12 121797380 121797380 single base substitution C T intron_variant MELA-AU 12 121797672 121797672 single base substitution C T intron_variant MELA-AU 12 121797674 121797674 single base substitution T A intron_variant MELA-AU 12 121797772 121797772 single base substitution C T intron_variant MELA-AU 12 121797792 121797792 single base substitution G A intron_variant MELA-AU 12 121797996 121797996 single base substitution T A intron_variant MELA-AU 12 121799470 121799470 single base substitution T A intron_variant MELA-AU 12 121799785 121799785 deletion of <=200bp A - intron_variant MELA-AU 12 121799881 121799881 single base substitution C T intron_variant MELA-AU 12 121799967 121799967 single base substitution G A intron_variant MELA-AU 12 121801123 121801123 single base substitution G A intron_variant MELA-AU 12 121801128 121801128 single base substitution T A intron_variant MELA-AU 12 121801429 121801429 single base substitution C T intron_variant MELA-AU 12 121801554 121801554 single base substitution C T intron_variant MELA-AU 12 121801663 121801663 single base substitution G A intron_variant MELA-AU 12 121802227 121802227 single base substitution A G intron_variant MELA-AU 12 121802637 121802637 single base substitution T G intron_variant MELA-AU 12 121803820 121803820 single base substitution C T intron_variant MELA-AU 12 121804983 121804983 single base substitution G A intron_variant MELA-AU 12 121805130 121805130 single base substitution C T intron_variant MELA-AU 12 121805621 121805621 single base substitution C T intron_variant MELA-AU 12 121806140 121806140 single base substitution C T intron_variant MELA-AU 12 121806374 121806374 single base substitution T C intron_variant MELA-AU 12 121807480 121807480 single base substitution G A intron_variant MELA-AU 12 121807796 121807796 single base substitution C T intron_variant MELA-AU 12 121808300 121808300 single base substitution G A intron_variant MELA-AU 12 121808325 121808325 single base substitution G A intron_variant MELA-AU 12 121808713 121808713 single base substitution C T intron_variant MELA-AU 12 121808949 121808949 single base substitution C T intron_variant MELA-AU 12 121809101 121809101 single base substitution G A intron_variant MELA-AU 12 121809191 121809191 single base substitution G A intron_variant MELA-AU 12 121809242 121809242 single base substitution C T intron_variant MELA-AU 12 121809312 121809312 single base substitution C T intron_variant MELA-AU 12 121809678 121809678 single base substitution C T intron_variant MELA-AU 12 121809907 121809907 single base substitution T C intron_variant MELA-AU 12 121809987 121809987 single base substitution C T intron_variant MELA-AU 12 121810095 121810095 single base substitution C T intron_variant MELA-AU 12 121810649 121810649 single base substitution G A intron_variant MELA-AU 12 121810798 121810798 single base substitution G A intron_variant MELA-AU 12 121810909 121810909 single base substitution G A intron_variant MELA-AU 12 121810931 121810931 single base substitution G A intron_variant MELA-AU 12 121811466 121811466 single base substitution G A intron_variant MELA-AU 12 121811807 121811807 single base substitution C T intron_variant MELA-AU 12 121811831 121811831 single base substitution G A intron_variant MELA-AU 12 121812210 121812210 single base substitution C T intron_variant MELA-AU 12 121812318 121812318 single base substitution C G intron_variant MELA-AU 12 121812438 121812438 single base substitution G A intron_variant MELA-AU 12 121812572 121812572 single base substitution C T intron_variant MELA-AU 12 121812747 121812747 single base substitution G A intron_variant MELA-AU 12 121812990 121812990 single base substitution T C intron_variant MELA-AU 12 121813073 121813073 single base substitution G A intron_variant MELA-AU 12 121813089 121813089 single base substitution C T intron_variant MELA-AU 12 121813214 121813214 single base substitution G A intron_variant MELA-AU 12 121813231 121813231 single base substitution C T intron_variant MELA-AU 12 121813361 121813361 single base substitution G A intron_variant MELA-AU 12 121813444 121813444 single base substitution C T intron_variant MELA-AU 12 121813638 121813639 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121813843 121813843 single base substitution G A intron_variant MELA-AU 12 121813844 121813844 single base substitution G A intron_variant MELA-AU 12 121814143 121814143 single base substitution G A intron_variant MELA-AU 12 121814311 121814311 single base substitution C T intron_variant MELA-AU 12 121814507 121814508 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121815007 121815007 single base substitution C T intron_variant MELA-AU 12 121815025 121815025 single base substitution C T intron_variant MELA-AU 12 121815034 121815034 single base substitution C T intron_variant MELA-AU 12 121815158 121815158 single base substitution G A intron_variant MELA-AU 12 121815635 121815635 single base substitution G A intron_variant MELA-AU 12 121815642 121815642 single base substitution G A intron_variant MELA-AU 12 121815813 121815813 single base substitution C T intron_variant MELA-AU 12 121816668 121816668 single base substitution C T intron_variant MELA-AU 12 121817562 121817562 single base substitution C A intron_variant MELA-AU 12 121818237 121818237 single base substitution C T intron_variant MELA-AU 12 121818470 121818470 single base substitution C T intron_variant MELA-AU 12 121818760 121818760 single base substitution G A intron_variant MELA-AU 12 121818940 121818940 single base substitution G A intron_variant MELA-AU 12 121819000 121819000 single base substitution G A intron_variant MELA-AU 12 121819210 121819210 single base substitution G A intron_variant MELA-AU 12 121819234 121819234 single base substitution G A intron_variant MELA-AU 12 121819519 121819519 single base substitution G A intron_variant MELA-AU 12 121819635 121819635 single base substitution G A intron_variant MELA-AU 12 121820407 121820407 single base substitution G A intron_variant MELA-AU 12 121821267 121821267 single base substitution T A intron_variant MELA-AU 12 121821723 121821723 single base substitution C T intron_variant MELA-AU 12 121821830 121821830 single base substitution A T intron_variant MELA-AU 12 121821907 121821907 single base substitution C T intron_variant MELA-AU 12 121822059 121822059 single base substitution G A intron_variant MELA-AU 12 121822824 121822824 single base substitution T A intron_variant MELA-AU 12 121822956 121822956 single base substitution G A intron_variant MELA-AU 12 121823188 121823188 single base substitution T G intron_variant MELA-AU 12 121823207 121823207 single base substitution G A intron_variant MELA-AU 12 121823598 121823598 single base substitution C T intron_variant MELA-AU 12 121823680 121823680 single base substitution C T intron_variant MELA-AU 12 121823840 121823840 single base substitution G A intron_variant MELA-AU 12 121824115 121824115 single base substitution C G intron_variant MELA-AU 12 121824140 121824140 single base substitution G A intron_variant MELA-AU 12 121824205 121824205 single base substitution T C intron_variant MELA-AU 12 121824504 121824504 single base substitution G A intron_variant MELA-AU 12 121824670 121824670 single base substitution G A intron_variant MELA-AU 12 121825159 121825159 single base substitution C T intron_variant MELA-AU 12 121825210 121825210 single base substitution G A intron_variant MELA-AU 12 121825236 121825236 single base substitution G A intron_variant MELA-AU 12 121825263 121825263 single base substitution C T intron_variant MELA-AU 12 121826175 121826175 single base substitution G C intron_variant MELA-AU 12 121826262 121826262 single base substitution C T intron_variant MELA-AU 12 121826268 121826268 single base substitution G A intron_variant MELA-AU 12 121826686 121826687 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 121826771 121826771 single base substitution T C intron_variant MELA-AU 12 121826805 121826805 single base substitution G A intron_variant MELA-AU 12 121826921 121826921 single base substitution G A intron_variant MELA-AU 12 121826933 121826933 single base substitution C T intron_variant MELA-AU 12 121826956 121826956 single base substitution G A intron_variant MELA-AU 12 121827492 121827492 single base substitution A T intron_variant MELA-AU 12 121828112 121828112 single base substitution C T intron_variant MELA-AU 12 121828305 121828305 single base substitution A G intron_variant MELA-AU 12 121828905 121828905 single base substitution C T intron_variant MELA-AU 12 121829010 121829010 single base substitution T C intron_variant MELA-AU 12 121829092 121829092 single base substitution C T intron_variant MELA-AU 12 121829667 121829667 single base substitution G A intron_variant MELA-AU 12 121829818 121829818 single base substitution G A intron_variant MELA-AU 12 121830092 121830092 single base substitution G A intron_variant MELA-AU 12 121830355 121830355 single base substitution G A intron_variant MELA-AU 12 121830513 121830514 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121830829 121830829 single base substitution C T intron_variant MELA-AU 12 121831353 121831353 single base substitution C T intron_variant MELA-AU 12 121831467 121831467 single base substitution G A intron_variant MELA-AU 12 121831582 121831582 single base substitution T C intron_variant MELA-AU 12 121831791 121831791 single base substitution G A intron_variant MELA-AU 12 121832097 121832097 single base substitution T C intron_variant MELA-AU 12 121832703 121832703 single base substitution G A intron_variant MELA-AU 12 121832739 121832739 single base substitution A T intron_variant MELA-AU 12 121833182 121833182 single base substitution C T intron_variant MELA-AU 12 121833184 121833184 single base substitution C T intron_variant MELA-AU 12 121833468 121833468 single base substitution A T intron_variant MELA-AU 12 121834101 121834101 single base substitution G A intron_variant MELA-AU 12 121834572 121834572 single base substitution T G intron_variant MELA-AU 12 121834772 121834772 single base substitution T A intron_variant MELA-AU 12 121835260 121835260 single base substitution T C intron_variant MELA-AU 12 121835385 121835385 single base substitution G A intron_variant MELA-AU 12 121836090 121836090 single base substitution G A intron_variant MELA-AU 12 121836244 121836245 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 121837802 121837802 single base substitution C T upstream_gene_variant MELA-AU 12 121837805 121837805 single base substitution G A upstream_gene_variant MELA-AU 12 121837817 121837817 single base substitution C T upstream_gene_variant MELA-AU 12 121837857 121837857 single base substitution G A upstream_gene_variant MELA-AU 12 121837875 121837875 single base substitution C T upstream_gene_variant MELA-AU 12 121838175 121838175 single base substitution C T upstream_gene_variant MELA-AU 12 121838516 121838516 single base substitution C T upstream_gene_variant MELA-AU 12 121839574 121839574 single base substitution A G upstream_gene_variant MELA-AU 12 121840959 121840959 single base substitution G A upstream_gene_variant ORCA-IN 12 121750465 121750465 single base substitution G A intron_variant ORCA-IN 12 121750465 121750465 single base substitution G A upstream_gene_variant ORCA-IN 12 121751646 121751646 single base substitution C G downstream_gene_variant ORCA-IN 12 121751646 121751646 single base substitution C G intron_variant ORCA-IN 12 121751646 121751646 single base substitution C G upstream_gene_variant ORCA-IN 12 121760833 121760833 single base substitution C T downstream_gene_variant ORCA-IN 12 121760833 121760833 single base substitution C T intron_variant ORCA-IN 12 121760833 121760833 single base substitution C T upstream_gene_variant ORCA-IN 12 121782721 121782721 single base substitution A G downstream_gene_variant ORCA-IN 12 121782721 121782721 single base substitution A G intron_variant ORCA-IN 12 121782721 121782721 single base substitution A G upstream_gene_variant ORCA-IN 12 121813274 121813274 single base substitution G A intron_variant ORCA-IN 12 121822819 121822819 insertion of <=200bp - CT intron_variant OV-AU 12 121742087 121742087 single base substitution A G downstream_gene_variant OV-AU 12 121743163 121743163 single base substitution G A downstream_gene_variant OV-AU 12 121747440 121747440 single base substitution G C intron_variant OV-AU 12 121750956 121750956 single base substitution C T downstream_gene_variant OV-AU 12 121750956 121750956 single base substitution C T intron_variant OV-AU 12 121750956 121750956 single base substitution C T upstream_gene_variant OV-AU 12 121752394 121752394 single base substitution T G downstream_gene_variant OV-AU 12 121752394 121752394 single base substitution T G intron_variant OV-AU 12 121752394 121752394 single base substitution T G upstream_gene_variant OV-AU 12 121755203 121755203 single base substitution C T downstream_gene_variant OV-AU 12 121755203 121755203 single base substitution C T intron_variant OV-AU 12 121757942 121757942 single base substitution G T intron_variant OV-AU 12 121762455 121762455 single base substitution G T downstream_gene_variant OV-AU 12 121762455 121762455 single base substitution G T intron_variant OV-AU 12 121762455 121762455 single base substitution G T upstream_gene_variant OV-AU 12 121763360 121763360 single base substitution C G downstream_gene_variant OV-AU 12 121763360 121763360 single base substitution C G intron_variant OV-AU 12 121763360 121763360 single base substitution C G upstream_gene_variant OV-AU 12 121763413 121763413 single base substitution T A downstream_gene_variant OV-AU 12 121763413 121763413 single base substitution T A intron_variant OV-AU 12 121763413 121763413 single base substitution T A upstream_gene_variant OV-AU 12 121768432 121768432 single base substitution A G downstream_gene_variant OV-AU 12 121768432 121768432 single base substitution A G exon_variant OV-AU 12 121768432 121768432 single base substitution A G intron_variant OV-AU 12 121768432 121768432 single base substitution A G missense_variant V25A 74T>C OV-AU 12 121768432 121768432 single base substitution A G missense_variant V260A 779T>C OV-AU 12 121768432 121768432 single base substitution A G missense_variant V359A 1076T>C OV-AU 12 121768432 121768432 single base substitution A G upstream_gene_variant OV-AU 12 121772169 121772169 single base substitution A G downstream_gene_variant OV-AU 12 121772169 121772169 single base substitution A G exon_variant OV-AU 12 121772169 121772169 single base substitution A G intron_variant OV-AU 12 121772169 121772169 single base substitution A G upstream_gene_variant OV-AU 12 121773031 121773031 single base substitution T A downstream_gene_variant OV-AU 12 121773031 121773031 single base substitution T A intron_variant OV-AU 12 121773031 121773031 single base substitution T A upstream_gene_variant OV-AU 12 121777812 121777812 single base substitution C G intron_variant OV-AU 12 121777812 121777812 single base substitution C G upstream_gene_variant OV-AU 12 121778652 121778652 single base substitution C G downstream_gene_variant OV-AU 12 121778652 121778652 single base substitution C G intron_variant OV-AU 12 121778652 121778652 single base substitution C G upstream_gene_variant OV-AU 12 121785109 121785109 single base substitution A G exon_variant OV-AU 12 121785109 121785109 single base substitution A G intron_variant OV-AU 12 121785109 121785109 single base substitution A G upstream_gene_variant OV-AU 12 121789691 121789691 single base substitution C G intron_variant OV-AU 12 121789691 121789691 single base substitution C G upstream_gene_variant OV-AU 12 121791982 121791982 single base substitution G T intron_variant OV-AU 12 121791982 121791982 single base substitution G T upstream_gene_variant OV-AU 12 121795161 121795161 single base substitution G A intron_variant OV-AU 12 121795161 121795161 single base substitution G A upstream_gene_variant OV-AU 12 121796916 121796916 single base substitution A G intron_variant OV-AU 12 121799733 121799733 single base substitution T C intron_variant OV-AU 12 121802021 121802021 single base substitution A G intron_variant OV-AU 12 121802091 121802091 single base substitution C T intron_variant OV-AU 12 121804987 121804987 single base substitution C T intron_variant OV-AU 12 121807450 121807450 single base substitution C T intron_variant OV-AU 12 121811676 121811676 single base substitution G T intron_variant OV-AU 12 121812503 121812503 single base substitution C T intron_variant OV-AU 12 121815673 121815673 single base substitution A C intron_variant OV-AU 12 121817172 121817172 single base substitution T C intron_variant OV-AU 12 121820575 121820575 single base substitution T G intron_variant OV-AU 12 121825989 121825989 single base substitution A G intron_variant OV-AU 12 121832053 121832053 single base substitution A G intron_variant PACA-AU 12 121744118 121744118 single base substitution T C downstream_gene_variant PACA-AU 12 121746542 121746542 single base substitution G T intron_variant PACA-AU 12 121748206 121748206 single base substitution A C intron_variant PACA-AU 12 121748206 121748206 single base substitution A C upstream_gene_variant PACA-AU 12 121752977 121752977 deletion of <=200bp A - downstream_gene_variant PACA-AU 12 121752977 121752977 deletion of <=200bp A - intron_variant PACA-AU 12 121752977 121752977 deletion of <=200bp A - upstream_gene_variant PACA-AU 12 121756911 121756911 single base substitution T C intron_variant PACA-AU 12 121759591 121759591 single base substitution T C downstream_gene_variant PACA-AU 12 121759591 121759591 single base substitution T C intron_variant PACA-AU 12 121759591 121759591 single base substitution T C upstream_gene_variant PACA-AU 12 121764454 121764454 single base substitution T C downstream_gene_variant PACA-AU 12 121764454 121764454 single base substitution T C intron_variant PACA-AU 12 121779592 121779592 single base substitution T C downstream_gene_variant PACA-AU 12 121779592 121779592 single base substitution T C intron_variant PACA-AU 12 121779592 121779592 single base substitution T C upstream_gene_variant PACA-AU 12 121779651 121779651 single base substitution C T downstream_gene_variant PACA-AU 12 121779651 121779651 single base substitution C T intron_variant PACA-AU 12 121779651 121779651 single base substitution C T upstream_gene_variant PACA-AU 12 121781810 121781810 single base substitution A C downstream_gene_variant PACA-AU 12 121781810 121781810 single base substitution A C intron_variant PACA-AU 12 121781810 121781810 single base substitution A C upstream_gene_variant PACA-AU 12 121783033 121783033 single base substitution C A downstream_gene_variant PACA-AU 12 121783033 121783033 single base substitution C A intron_variant PACA-AU 12 121783033 121783033 single base substitution C A upstream_gene_variant PACA-AU 12 121785308 121785308 single base substitution C T exon_variant PACA-AU 12 121785308 121785308 single base substitution C T intron_variant PACA-AU 12 121785308 121785308 single base substitution C T upstream_gene_variant PACA-AU 12 121785678 121785678 single base substitution C G 5_prime_UTR_variant PACA-AU 12 121785678 121785678 single base substitution C G exon_variant PACA-AU 12 121785678 121785678 single base substitution C G intron_variant PACA-AU 12 121785678 121785678 single base substitution C G missense_variant D120H 358G>C PACA-AU 12 121785678 121785678 single base substitution C G missense_variant D72H 214G>C PACA-AU 12 121785678 121785678 single base substitution C G upstream_gene_variant PACA-AU 12 121801395 121801395 single base substitution C T intron_variant PACA-AU 12 121802183 121802183 single base substitution C A intron_variant PACA-AU 12 121802441 121802441 single base substitution C T intron_variant PACA-AU 12 121811298 121811298 single base substitution A C intron_variant PACA-AU 12 121813579 121813579 single base substitution A G intron_variant PACA-AU 12 121815519 121815519 deletion of <=200bp T - intron_variant PACA-AU 12 121816330 121816330 single base substitution A T intron_variant PACA-AU 12 121817047 121817047 single base substitution G C intron_variant PACA-AU 12 121821545 121821545 single base substitution C T intron_variant PACA-AU 12 121826669 121826669 single base substitution G A intron_variant PACA-AU 12 121827152 121827159 deletion of <=200bp ATTTATTT - intron_variant PACA-AU 12 121830454 121830454 single base substitution G C intron_variant PACA-AU 12 121833120 121833120 single base substitution C T intron_variant PACA-AU 12 121833132 121833132 single base substitution C T intron_variant PACA-AU 12 121835952 121835952 single base substitution G A intron_variant PACA-AU 12 121841116 121841116 single base substitution G A upstream_gene_variant PACA-CA 12 121741902 121741902 single base substitution C T downstream_gene_variant PACA-CA 12 121742932 121742932 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 121743108 121743108 single base substitution A G downstream_gene_variant PACA-CA 12 121743228 121743228 single base substitution T C downstream_gene_variant PACA-CA 12 121746426 121746426 single base substitution G A 3_prime_UTR_variant PACA-CA 12 121746426 121746426 single base substitution G A exon_variant PACA-CA 12 121746426 121746426 single base substitution G A missense_variant R375C 1123C>T PACA-CA 12 121746426 121746426 single base substitution G A missense_variant R597C 1789C>T PACA-CA 12 121746426 121746426 single base substitution G A missense_variant R696C 2086C>T PACA-CA 12 121746426 121746426 single base substitution G A missense_variant R709C 2125C>T PACA-CA 12 121751561 121751561 single base substitution A C downstream_gene_variant PACA-CA 12 121751561 121751561 single base substitution A C intron_variant PACA-CA 12 121751561 121751561 single base substitution A C upstream_gene_variant PACA-CA 12 121753449 121753449 insertion of <=200bp - T downstream_gene_variant PACA-CA 12 121753449 121753449 insertion of <=200bp - T intron_variant PACA-CA 12 121754994 121754994 single base substitution T C downstream_gene_variant PACA-CA 12 121754994 121754994 single base substitution T C intron_variant PACA-CA 12 121756234 121756234 single base substitution G A downstream_gene_variant PACA-CA 12 121756234 121756234 single base substitution G A exon_variant PACA-CA 12 121756234 121756234 single base substitution G A intron_variant PACA-CA 12 121756234 121756234 single base substitution G A splice_region_variant PACA-CA 12 121764288 121764288 single base substitution G C downstream_gene_variant PACA-CA 12 121764288 121764288 single base substitution G C exon_variant PACA-CA 12 121764288 121764288 single base substitution G C intron_variant PACA-CA 12 121769239 121769239 single base substitution C T downstream_gene_variant PACA-CA 12 121769239 121769239 single base substitution C T exon_variant PACA-CA 12 121769239 121769239 single base substitution C T intron_variant PACA-CA 12 121769239 121769239 single base substitution C T splice_region_variant PACA-CA 12 121769239 121769239 single base substitution C T upstream_gene_variant PACA-CA 12 121770935 121770935 single base substitution A G downstream_gene_variant PACA-CA 12 121770935 121770935 single base substitution A G exon_variant PACA-CA 12 121770935 121770935 single base substitution A G intron_variant PACA-CA 12 121770935 121770935 single base substitution A G upstream_gene_variant PACA-CA 12 121771165 121771165 single base substitution C T downstream_gene_variant PACA-CA 12 121771165 121771165 single base substitution C T exon_variant PACA-CA 12 121771165 121771165 single base substitution C T intron_variant PACA-CA 12 121771165 121771165 single base substitution C T upstream_gene_variant PACA-CA 12 121772564 121772564 single base substitution T C downstream_gene_variant PACA-CA 12 121772564 121772564 single base substitution T C exon_variant PACA-CA 12 121772564 121772564 single base substitution T C intron_variant PACA-CA 12 121772564 121772564 single base substitution T C upstream_gene_variant PACA-CA 12 121772581 121772581 single base substitution T G downstream_gene_variant PACA-CA 12 121772581 121772581 single base substitution T G exon_variant PACA-CA 12 121772581 121772581 single base substitution T G intron_variant PACA-CA 12 121772581 121772581 single base substitution T G upstream_gene_variant PACA-CA 12 121773223 121773223 single base substitution C G downstream_gene_variant PACA-CA 12 121773223 121773223 single base substitution C G intron_variant PACA-CA 12 121773223 121773223 single base substitution C G upstream_gene_variant PACA-CA 12 121774621 121774621 single base substitution G A intron_variant PACA-CA 12 121774621 121774621 single base substitution G A upstream_gene_variant PACA-CA 12 121788013 121788013 single base substitution A T intron_variant PACA-CA 12 121788013 121788013 single base substitution A T upstream_gene_variant PACA-CA 12 121789086 121789086 deletion of <=200bp G - intron_variant PACA-CA 12 121789086 121789086 deletion of <=200bp G - upstream_gene_variant PACA-CA 12 121790521 121790521 single base substitution T G intron_variant PACA-CA 12 121790521 121790521 single base substitution T G upstream_gene_variant PACA-CA 12 121794101 121794101 single base substitution C T intron_variant PACA-CA 12 121794101 121794101 single base substitution C T upstream_gene_variant PACA-CA 12 121795716 121795716 single base substitution A G intron_variant PACA-CA 12 121797997 121797997 single base substitution C A intron_variant PACA-CA 12 121798462 121798462 single base substitution G A intron_variant PACA-CA 12 121801049 121801049 single base substitution C T intron_variant PACA-CA 12 121801989 121801989 single base substitution G A intron_variant PACA-CA 12 121802187 121802187 single base substitution C T intron_variant PACA-CA 12 121803235 121803235 single base substitution T C intron_variant PACA-CA 12 121804913 121804913 single base substitution G A intron_variant PACA-CA 12 121807586 121807586 single base substitution G A intron_variant PACA-CA 12 121812376 121812376 single base substitution C T intron_variant PACA-CA 12 121817605 121817605 single base substitution G A intron_variant PACA-CA 12 121819620 121819620 single base substitution T G intron_variant PACA-CA 12 121820832 121820832 single base substitution T G intron_variant PACA-CA 12 121828267 121828267 insertion of <=200bp - A intron_variant PACA-CA 12 121830854 121830854 single base substitution G A intron_variant PACA-CA 12 121831538 121831538 single base substitution C G intron_variant PACA-CA 12 121832563 121832563 single base substitution G A intron_variant PACA-CA 12 121834597 121834597 single base substitution A C intron_variant PACA-CA 12 121840803 121840803 single base substitution A C upstream_gene_variant PACA-CA 12 121841959 121841959 single base substitution C T upstream_gene_variant PAEN-AU 12 121787352 121787352 single base substitution G A intron_variant PAEN-AU 12 121787352 121787352 single base substitution G A upstream_gene_variant PAEN-AU 12 121799887 121799887 single base substitution C A intron_variant PAEN-AU 12 121804837 121804837 single base substitution G C intron_variant PAEN-AU 12 121841476 121841476 single base substitution T A upstream_gene_variant PAEN-IT 12 121741643 121741643 single base substitution C G downstream_gene_variant PAEN-IT 12 121824911 121824911 single base substitution C T intron_variant PAEN-IT 12 121825611 121825611 single base substitution T A intron_variant PAEN-IT 12 121833318 121833318 single base substitution A C intron_variant PBCA-DE 12 121748779 121748779 single base substitution A T intron_variant PBCA-DE 12 121748779 121748779 single base substitution A T upstream_gene_variant PBCA-DE 12 121770700 121770700 single base substitution C T downstream_gene_variant PBCA-DE 12 121770700 121770700 single base substitution C T exon_variant PBCA-DE 12 121770700 121770700 single base substitution C T intron_variant PBCA-DE 12 121770700 121770700 single base substitution C T upstream_gene_variant PBCA-DE 12 121772962 121772965 deletion of <=200bp TTTA - downstream_gene_variant PBCA-DE 12 121772962 121772965 deletion of <=200bp TTTA - exon_variant PBCA-DE 12 121772962 121772965 deletion of <=200bp TTTA - intron_variant PBCA-DE 12 121772962 121772965 deletion of <=200bp TTTA - upstream_gene_variant PBCA-DE 12 121778703 121778703 single base substitution C A downstream_gene_variant PBCA-DE 12 121778703 121778703 single base substitution C A intron_variant PBCA-DE 12 121778703 121778703 single base substitution C A upstream_gene_variant PBCA-DE 12 121786472 121786472 insertion of <=200bp - A intron_variant PBCA-DE 12 121786472 121786472 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 121795263 121795263 single base substitution G A intron_variant PBCA-DE 12 121795263 121795263 single base substitution G A upstream_gene_variant PBCA-DE 12 121797299 121797299 single base substitution A T intron_variant PBCA-DE 12 121798549 121798549 single base substitution C T intron_variant PBCA-DE 12 121803512 121803512 single base substitution G T intron_variant PBCA-DE 12 121810674 121810674 insertion of <=200bp - A intron_variant PBCA-DE 12 121811410 121811410 deletion of <=200bp A - intron_variant PBCA-DE 12 121812509 121812509 single base substitution A C intron_variant PBCA-DE 12 121816247 121816247 single base substitution C T intron_variant PBCA-DE 12 121819449 121819449 deletion of <=200bp T - intron_variant PBCA-DE 12 121820176 121820176 insertion of <=200bp - T intron_variant PBCA-DE 12 121824874 121824874 single base substitution G T intron_variant PBCA-DE 12 121837809 121837809 single base substitution G A upstream_gene_variant PRAD-CA 12 121763568 121763568 single base substitution G A downstream_gene_variant PRAD-CA 12 121763568 121763568 single base substitution G A intron_variant PRAD-CA 12 121763568 121763568 single base substitution G A upstream_gene_variant PRAD-CA 12 121790171 121790171 single base substitution G A 5_prime_UTR_variant PRAD-CA 12 121790171 121790171 single base substitution G A exon_variant PRAD-CA 12 121790171 121790171 single base substitution G A intron_variant PRAD-CA 12 121790171 121790171 single base substitution G A upstream_gene_variant PRAD-CA 12 121791917 121791917 single base substitution G A intron_variant PRAD-CA 12 121791917 121791917 single base substitution G A upstream_gene_variant PRAD-CA 12 121809796 121809796 single base substitution A G intron_variant PRAD-CA 12 121813606 121813606 single base substitution T C intron_variant PRAD-CA 12 121818133 121818133 single base substitution C T intron_variant PRAD-CA 12 121818400 121818400 single base substitution G A intron_variant PRAD-CA 12 121824294 121824294 single base substitution C T intron_variant PRAD-CA 12 121829782 121829782 single base substitution C G intron_variant PRAD-CA 12 121837169 121837169 single base substitution A G intron_variant PRAD-CA 12 121839951 121839951 single base substitution G A upstream_gene_variant PRAD-UK 12 121756088 121756088 single base substitution A C 3_prime_UTR_variant PRAD-UK 12 121756088 121756088 single base substitution A C downstream_gene_variant PRAD-UK 12 121756088 121756088 single base substitution A C exon_variant PRAD-UK 12 121756088 121756088 single base substitution A C missense_variant F295V 883T>G PRAD-UK 12 121756088 121756088 single base substitution A C missense_variant F517V 1549T>G PRAD-UK 12 121756088 121756088 single base substitution A C missense_variant F616V 1846T>G PRAD-UK 12 121756088 121756088 single base substitution A C missense_variant F629V 1885T>G PRAD-UK 12 121758811 121758811 single base substitution G C exon_variant PRAD-UK 12 121758811 121758811 single base substitution G C intron_variant PRAD-UK 12 121760282 121760282 deletion of <=200bp A - downstream_gene_variant PRAD-UK 12 121760282 121760282 deletion of <=200bp A - intron_variant PRAD-UK 12 121760282 121760282 deletion of <=200bp A - upstream_gene_variant PRAD-UK 12 121795161 121795161 single base substitution G A intron_variant PRAD-UK 12 121795161 121795161 single base substitution G A upstream_gene_variant PRAD-UK 12 121795339 121795339 single base substitution G A intron_variant PRAD-UK 12 121798181 121798181 single base substitution G A intron_variant PRAD-UK 12 121802277 121802277 single base substitution C A intron_variant PRAD-UK 12 121804988 121804988 single base substitution G A intron_variant PRAD-UK 12 121815021 121815021 single base substitution A C intron_variant PRAD-UK 12 121828356 121828356 single base substitution G T intron_variant PRAD-US 12 121746472 121746472 single base substitution G T 3_prime_UTR_variant PRAD-US 12 121746472 121746472 single base substitution G T exon_variant PRAD-US 12 121746472 121746472 single base substitution G T missense_variant N359K 1077C>A PRAD-US 12 121746472 121746472 single base substitution G T missense_variant N581K 1743C>A PRAD-US 12 121746472 121746472 single base substitution G T missense_variant N680K 2040C>A PRAD-US 12 121746472 121746472 single base substitution G T missense_variant N693K 2079C>A PRAD-US 12 121747516 121747516 single base substitution T G 3_prime_UTR_variant PRAD-US 12 121747516 121747516 single base substitution T G exon_variant PRAD-US 12 121747516 121747516 single base substitution T G missense_variant K348Q 1042A>C PRAD-US 12 121747516 121747516 single base substitution T G missense_variant K570Q 1708A>C PRAD-US 12 121747516 121747516 single base substitution T G missense_variant K669Q 2005A>C PRAD-US 12 121747516 121747516 single base substitution T G missense_variant K682Q 2044A>C PRAD-US 12 121766164 121766164 single base substitution A G downstream_gene_variant PRAD-US 12 121766164 121766164 single base substitution A G exon_variant PRAD-US 12 121766164 121766164 single base substitution A G missense_variant I308T 923T>C PRAD-US 12 121766164 121766164 single base substitution A G missense_variant I407T 1220T>C PRAD-US 12 121766164 121766164 single base substitution A G missense_variant I420T 1259T>C PRAD-US 12 121766164 121766164 single base substitution A G missense_variant I86T 257T>C RECA-EU 12 121753618 121753618 single base substitution C G downstream_gene_variant RECA-EU 12 121753618 121753618 single base substitution C G intron_variant RECA-EU 12 121757910 121757910 single base substitution T C intron_variant RECA-EU 12 121769047 121769047 single base substitution T G 5_prime_UTR_variant RECA-EU 12 121769047 121769047 single base substitution T G downstream_gene_variant RECA-EU 12 121769047 121769047 single base substitution T G exon_variant RECA-EU 12 121769047 121769047 single base substitution T G intron_variant RECA-EU 12 121769047 121769047 single base substitution T G upstream_gene_variant RECA-EU 12 121769050 121769050 single base substitution A G 5_prime_UTR_variant RECA-EU 12 121769050 121769050 single base substitution A G downstream_gene_variant RECA-EU 12 121769050 121769050 single base substitution A G exon_variant RECA-EU 12 121769050 121769050 single base substitution A G intron_variant RECA-EU 12 121769050 121769050 single base substitution A G upstream_gene_variant RECA-EU 12 121782397 121782397 single base substitution A G downstream_gene_variant RECA-EU 12 121782397 121782397 single base substitution A G intron_variant RECA-EU 12 121782397 121782397 single base substitution A G upstream_gene_variant RECA-EU 12 121788148 121788148 single base substitution C A intron_variant RECA-EU 12 121788148 121788148 single base substitution C A upstream_gene_variant RECA-EU 12 121791437 121791437 single base substitution G C intron_variant RECA-EU 12 121791437 121791437 single base substitution G C upstream_gene_variant RECA-EU 12 121802667 121802667 single base substitution G T intron_variant RECA-EU 12 121812752 121812752 single base substitution G C intron_variant RECA-EU 12 121813883 121813883 single base substitution G A intron_variant RECA-EU 12 121841826 121841826 single base substitution T A upstream_gene_variant SKCA-BR 12 121742302 121742302 single base substitution G A downstream_gene_variant SKCA-BR 12 121742303 121742303 single base substitution G A downstream_gene_variant SKCA-BR 12 121742969 121742969 single base substitution C T downstream_gene_variant SKCA-BR 12 121744711 121744711 single base substitution G A downstream_gene_variant SKCA-BR 12 121745296 121745296 single base substitution C T downstream_gene_variant SKCA-BR 12 121748055 121748055 insertion of <=200bp - AAGAG exon_variant SKCA-BR 12 121748055 121748055 insertion of <=200bp - AAGAG intron_variant SKCA-BR 12 121748720 121748720 single base substitution G A intron_variant SKCA-BR 12 121748720 121748720 single base substitution G A upstream_gene_variant SKCA-BR 12 121752623 121752623 single base substitution G A downstream_gene_variant SKCA-BR 12 121752623 121752623 single base substitution G A intron_variant SKCA-BR 12 121752623 121752623 single base substitution G A upstream_gene_variant SKCA-BR 12 121759675 121759675 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 12 121759675 121759675 insertion of <=200bp - CT intron_variant SKCA-BR 12 121759675 121759675 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 12 121760700 121760700 single base substitution T G downstream_gene_variant SKCA-BR 12 121760700 121760700 single base substitution T G intron_variant SKCA-BR 12 121760700 121760700 single base substitution T G upstream_gene_variant SKCA-BR 12 121762152 121762152 single base substitution G A downstream_gene_variant SKCA-BR 12 121762152 121762152 single base substitution G A intron_variant SKCA-BR 12 121762152 121762152 single base substitution G A upstream_gene_variant SKCA-BR 12 121763315 121763315 single base substitution A T downstream_gene_variant SKCA-BR 12 121763315 121763315 single base substitution A T intron_variant SKCA-BR 12 121763315 121763315 single base substitution A T upstream_gene_variant SKCA-BR 12 121768712 121768712 single base substitution T G 5_prime_UTR_variant SKCA-BR 12 121768712 121768712 single base substitution T G downstream_gene_variant SKCA-BR 12 121768712 121768712 single base substitution T G exon_variant SKCA-BR 12 121768712 121768712 single base substitution T G intron_variant SKCA-BR 12 121768712 121768712 single base substitution T G upstream_gene_variant SKCA-BR 12 121769832 121769832 single base substitution A G downstream_gene_variant SKCA-BR 12 121769832 121769832 single base substitution A G exon_variant SKCA-BR 12 121769832 121769832 single base substitution A G intron_variant SKCA-BR 12 121769832 121769832 single base substitution A G upstream_gene_variant SKCA-BR 12 121769850 121769850 single base substitution A G downstream_gene_variant SKCA-BR 12 121769850 121769850 single base substitution A G exon_variant SKCA-BR 12 121769850 121769850 single base substitution A G intron_variant SKCA-BR 12 121769850 121769850 single base substitution A G upstream_gene_variant SKCA-BR 12 121776857 121776857 single base substitution C T intron_variant SKCA-BR 12 121776857 121776857 single base substitution C T upstream_gene_variant SKCA-BR 12 121777512 121777512 single base substitution T C intron_variant SKCA-BR 12 121777512 121777512 single base substitution T C upstream_gene_variant SKCA-BR 12 121777515 121777515 single base substitution A C intron_variant SKCA-BR 12 121777515 121777515 single base substitution A C upstream_gene_variant SKCA-BR 12 121786405 121786405 single base substitution T G intron_variant SKCA-BR 12 121786405 121786405 single base substitution T G upstream_gene_variant SKCA-BR 12 121787569 121787569 single base substitution G A intron_variant SKCA-BR 12 121787569 121787569 single base substitution G A upstream_gene_variant SKCA-BR 12 121787849 121787849 single base substitution G A intron_variant SKCA-BR 12 121787849 121787849 single base substitution G A upstream_gene_variant SKCA-BR 12 121790524 121790524 single base substitution G T intron_variant SKCA-BR 12 121790524 121790524 single base substitution G T upstream_gene_variant SKCA-BR 12 121791187 121791187 single base substitution C G intron_variant SKCA-BR 12 121791187 121791187 single base substitution C G upstream_gene_variant SKCA-BR 12 121791788 121791789 deletion of <=200bp AT - intron_variant SKCA-BR 12 121791788 121791789 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 12 121793455 121793455 single base substitution G A intron_variant SKCA-BR 12 121793455 121793455 single base substitution G A upstream_gene_variant SKCA-BR 12 121794468 121794468 single base substitution G A intron_variant SKCA-BR 12 121794468 121794468 single base substitution G A upstream_gene_variant SKCA-BR 12 121796053 121796053 single base substitution C T intron_variant SKCA-BR 12 121798052 121798052 insertion of <=200bp - CA intron_variant SKCA-BR 12 121805185 121805185 single base substitution A C intron_variant SKCA-BR 12 121805441 121805441 single base substitution C T intron_variant SKCA-BR 12 121805810 121805810 single base substitution G A intron_variant SKCA-BR 12 121811014 121811014 single base substitution C T intron_variant SKCA-BR 12 121811571 121811571 insertion of <=200bp - CA intron_variant SKCA-BR 12 121811808 121811808 single base substitution A C intron_variant SKCA-BR 12 121812268 121812268 single base substitution G A intron_variant SKCA-BR 12 121812509 121812509 single base substitution A C intron_variant SKCA-BR 12 121813322 121813322 single base substitution A G intron_variant SKCA-BR 12 121815252 121815252 single base substitution T C intron_variant SKCA-BR 12 121815439 121815439 single base substitution A T intron_variant SKCA-BR 12 121822818 121822818 insertion of <=200bp - TC intron_variant SKCA-BR 12 121822820 121822820 single base substitution T C intron_variant SKCA-BR 12 121823297 121823297 single base substitution C T intron_variant SKCA-BR 12 121824280 121824280 insertion of <=200bp - CT intron_variant SKCA-BR 12 121824292 121824292 insertion of <=200bp - TTTC intron_variant SKCA-BR 12 121825210 121825210 single base substitution G A intron_variant SKCA-BR 12 121825322 121825322 single base substitution C T intron_variant SKCA-BR 12 121827151 121827151 insertion of <=200bp - AATTT intron_variant SKCA-BR 12 121827389 121827389 single base substitution G A intron_variant SKCA-BR 12 121829633 121829633 single base substitution G A intron_variant SKCA-BR 12 121830368 121830368 single base substitution G A intron_variant SKCA-BR 12 121832141 121832141 single base substitution G A intron_variant SKCA-BR 12 121833792 121833792 single base substitution G A intron_variant SKCA-BR 12 121835290 121835291 deletion of <=200bp TC - intron_variant SKCA-BR 12 121835291 121835291 single base substitution C T intron_variant SKCM-US 12 121746388 121746388 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121746388 121746388 single base substitution G A exon_variant SKCM-US 12 121746388 121746388 single base substitution G A synonymous_variant Y387Y 1161C>T SKCM-US 12 121746388 121746388 single base substitution G A synonymous_variant Y609Y 1827C>T SKCM-US 12 121746388 121746388 single base substitution G A synonymous_variant Y708Y 2124C>T SKCM-US 12 121746388 121746388 single base substitution G A synonymous_variant Y721Y 2163C>T SKCM-US 12 121747651 121747651 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121747651 121747651 single base substitution G A exon_variant SKCM-US 12 121747651 121747651 single base substitution G A missense_variant P303S 907C>T SKCM-US 12 121747651 121747651 single base substitution G A missense_variant P525S 1573C>T SKCM-US 12 121747651 121747651 single base substitution G A missense_variant P624S 1870C>T SKCM-US 12 121747651 121747651 single base substitution G A missense_variant P637S 1909C>T SKCM-US 12 121756141 121756141 single base substitution G A downstream_gene_variant SKCM-US 12 121756141 121756141 single base substitution G A exon_variant SKCM-US 12 121756141 121756141 single base substitution G A missense_variant S277F 830C>T SKCM-US 12 121756141 121756141 single base substitution G A missense_variant S499F 1496C>T SKCM-US 12 121756141 121756141 single base substitution G A missense_variant S598F 1793C>T SKCM-US 12 121756141 121756141 single base substitution G A missense_variant S611F 1832C>T SKCM-US 12 121758211 121758211 single base substitution G A exon_variant SKCM-US 12 121758211 121758211 single base substitution G A missense_variant P164S 490C>T SKCM-US 12 121758211 121758211 single base substitution G A missense_variant P386S 1156C>T SKCM-US 12 121758211 121758211 single base substitution G A missense_variant P485S 1453C>T SKCM-US 12 121758211 121758211 single base substitution G A missense_variant P498S 1492C>T SKCM-US 12 121779811 121779811 single base substitution G T downstream_gene_variant SKCM-US 12 121779811 121779811 single base substitution G T exon_variant SKCM-US 12 121779811 121779811 single base substitution G T missense_variant Q119K 355C>A SKCM-US 12 121779811 121779811 single base substitution G T missense_variant Q218K 652C>A SKCM-US 12 121779811 121779811 single base substitution G T missense_variant Q97K 289C>A SKCM-US 12 121779811 121779811 single base substitution G T upstream_gene_variant SKCM-US 12 121779840 121779840 single base substitution G A downstream_gene_variant SKCM-US 12 121779840 121779840 single base substitution G A exon_variant SKCM-US 12 121779840 121779840 single base substitution G A missense_variant S109F 326C>T SKCM-US 12 121779840 121779840 single base substitution G A missense_variant S208F 623C>T SKCM-US 12 121779840 121779840 single base substitution G A missense_variant S87F 260C>T SKCM-US 12 121779840 121779840 single base substitution G A upstream_gene_variant SKCM-US 12 121784743 121784743 single base substitution G A exon_variant SKCM-US 12 121784743 121784743 single base substitution G A missense_variant S118F 353C>T SKCM-US 12 121784743 121784743 single base substitution G A missense_variant S166F 497C>T SKCM-US 12 121784743 121784743 single base substitution G A missense_variant S19F 56C>T SKCM-US 12 121784743 121784743 single base substitution G A upstream_gene_variant STAD-US 12 121756174 121756174 single base substitution G A downstream_gene_variant STAD-US 12 121756174 121756174 single base substitution G A exon_variant STAD-US 12 121756174 121756174 single base substitution G A intron_variant STAD-US 12 121756174 121756174 single base substitution G A missense_variant A266V 797C>T STAD-US 12 121756174 121756174 single base substitution G A missense_variant A488V 1463C>T STAD-US 12 121756174 121756174 single base substitution G A missense_variant A587V 1760C>T STAD-US 12 121756174 121756174 single base substitution G A missense_variant A600V 1799C>T STAD-US 12 121757618 121757618 single base substitution A G exon_variant STAD-US 12 121757618 121757618 single base substitution A G missense_variant W173R 517T>C STAD-US 12 121757618 121757618 single base substitution A G missense_variant W395R 1183T>C STAD-US 12 121757618 121757618 single base substitution A G missense_variant W494R 1480T>C STAD-US 12 121757618 121757618 single base substitution A G missense_variant W507R 1519T>C STAD-US 12 121765029 121765029 single base substitution A G downstream_gene_variant STAD-US 12 121765029 121765029 single base substitution A G exon_variant STAD-US 12 121765029 121765029 single base substitution A G missense_variant M103T 308T>C STAD-US 12 121765029 121765029 single base substitution A G missense_variant M325T 974T>C STAD-US 12 121765029 121765029 single base substitution A G missense_variant M424T 1271T>C STAD-US 12 121765029 121765029 single base substitution A G missense_variant M437T 1310T>C STAD-US 12 121773377 121773377 single base substitution G A exon_variant STAD-US 12 121773377 121773377 single base substitution G A intron_variant STAD-US 12 121773377 121773377 single base substitution G A synonymous_variant A182A 546C>T STAD-US 12 121773377 121773377 single base substitution G A synonymous_variant A204A 612C>T STAD-US 12 121773377 121773377 single base substitution G A synonymous_variant A303A 909C>T STAD-US 12 121773377 121773377 single base substitution G A upstream_gene_variant STAD-US 12 121775094 121775094 single base substitution C T splice_region_variant STAD-US 12 121775094 121775094 single base substitution C T upstream_gene_variant THCA-SA 12 121747517 121747517 single base substitution C T 3_prime_UTR_variant THCA-SA 12 121747517 121747517 single base substitution C T exon_variant THCA-SA 12 121747517 121747517 single base substitution C T synonymous_variant P347P 1041G>A THCA-SA 12 121747517 121747517 single base substitution C T synonymous_variant P569P 1707G>A THCA-SA 12 121747517 121747517 single base substitution C T synonymous_variant P668P 2004G>A THCA-SA 12 121747517 121747517 single base substitution C T synonymous_variant P681P 2043G>A THCA-SA 12 121790178 121790178 single base substitution G A 5_prime_UTR_variant THCA-SA 12 121790178 121790178 single base substitution G A exon_variant THCA-SA 12 121790178 121790178 single base substitution G A intron_variant THCA-SA 12 121790178 121790178 single base substitution G A upstream_gene_variant THCA-US 12 121766258 121766258 single base substitution C T downstream_gene_variant THCA-US 12 121766258 121766258 single base substitution C T exon_variant THCA-US 12 121766258 121766258 single base substitution C T missense_variant A277T 829G>A THCA-US 12 121766258 121766258 single base substitution C T missense_variant A376T 1126G>A THCA-US 12 121766258 121766258 single base substitution C T missense_variant A389T 1165G>A THCA-US 12 121766258 121766258 single base substitution C T missense_variant A55T 163G>A THCA-US 12 121766258 121766258 single base substitution C T synonymous_variant E210E 630G>A UCEC-US 12 121746433 121746433 single base substitution G A 3_prime_UTR_variant UCEC-US 12 121746433 121746433 single base substitution G A exon_variant UCEC-US 12 121746433 121746433 single base substitution G A synonymous_variant C372C 1116C>T UCEC-US 12 121746433 121746433 single base substitution G A synonymous_variant C594C 1782C>T UCEC-US 12 121746433 121746433 single base substitution G A synonymous_variant C693C 2079C>T UCEC-US 12 121746433 121746433 single base substitution G A synonymous_variant C706C 2118C>T UCEC-US 12 121747634 121747634 single base substitution A T 3_prime_UTR_variant UCEC-US 12 121747634 121747634 single base substitution A T exon_variant UCEC-US 12 121747634 121747634 single base substitution A T missense_variant S308R 924T>A UCEC-US 12 121747634 121747634 single base substitution A T missense_variant S530R 1590T>A UCEC-US 12 121747634 121747634 single base substitution A T missense_variant S629R 1887T>A UCEC-US 12 121747634 121747634 single base substitution A T missense_variant S642R 1926T>A UCEC-US 12 121756173 121756173 single base substitution C T downstream_gene_variant UCEC-US 12 121756173 121756173 single base substitution C T exon_variant UCEC-US 12 121756173 121756173 single base substitution C T intron_variant UCEC-US 12 121756173 121756173 single base substitution C T synonymous_variant A266A 798G>A UCEC-US 12 121756173 121756173 single base substitution C T synonymous_variant A488A 1464G>A UCEC-US 12 121756173 121756173 single base substitution C T synonymous_variant A587A 1761G>A UCEC-US 12 121756173 121756173 single base substitution C T synonymous_variant A600A 1800G>A UCEC-US 12 121758186 121758186 single base substitution A T splice_donor_variant UCEC-US 12 121766228 121766228 single base substitution T A downstream_gene_variant UCEC-US 12 121766228 121766228 single base substitution T A exon_variant UCEC-US 12 121766228 121766228 single base substitution T A missense_variant M287L 859A>T UCEC-US 12 121766228 121766228 single base substitution T A missense_variant M386L 1156A>T UCEC-US 12 121766228 121766228 single base substitution T A missense_variant M399L 1195A>T UCEC-US 12 121766228 121766228 single base substitution T A missense_variant M65L 193A>T UCEC-US 12 121766228 121766228 single base substitution T A stop_lost *220C 660A>T UCEC-US 12 121769176 121769176 single base substitution C T 5_prime_UTR_variant UCEC-US 12 121769176 121769176 single base substitution C T downstream_gene_variant UCEC-US 12 121769176 121769176 single base substitution C T exon_variant UCEC-US 12 121769176 121769176 single base substitution C T intron_variant UCEC-US 12 121769176 121769176 single base substitution C T missense_variant D237N 709G>A UCEC-US 12 121769176 121769176 single base substitution C T missense_variant D336N 1006G>A UCEC-US 12 121769176 121769176 single base substitution C T upstream_gene_variant UCEC-US 12 121773498 121773498 single base substitution C T exon_variant UCEC-US 12 121773498 121773498 single base substitution C T intron_variant UCEC-US 12 121773498 121773498 single base substitution C T missense_variant R142H 425G>A UCEC-US 12 121773498 121773498 single base substitution C T missense_variant R164H 491G>A UCEC-US 12 121773498 121773498 single base substitution C T missense_variant R263H 788G>A UCEC-US 12 121773498 121773498 single base substitution C T upstream_gene_variant UCEC-US 12 121775128 121775128 single base substitution T G exon_variant UCEC-US 12 121775128 121775128 single base substitution T G missense_variant N121T 362A>C UCEC-US 12 121775128 121775128 single base substitution T G missense_variant N143T 428A>C UCEC-US 12 121775128 121775128 single base substitution T G missense_variant N242T 725A>C UCEC-US 12 121775128 121775128 single base substitution T G upstream_gene_variant UCEC-US 12 121779826 121779826 single base substitution C A downstream_gene_variant UCEC-US 12 121779826 121779826 single base substitution C A exon_variant UCEC-US 12 121779826 121779826 single base substitution C A stop_gained E114* 340G>T UCEC-US 12 121779826 121779826 single base substitution C A stop_gained E213* 637G>T UCEC-US 12 121779826 121779826 single base substitution C A stop_gained E92* 274G>T UCEC-US 12 121779826 121779826 single base substitution C A upstream_gene_variant UCEC-US 12 121783822 121783822 single base substitution C T downstream_gene_variant UCEC-US 12 121783822 121783822 single base substitution C T exon_variant UCEC-US 12 121783822 121783822 single base substitution C T intron_variant UCEC-US 12 121783822 121783822 single base substitution C T missense_variant R137H 410G>A UCEC-US 12 121783822 121783822 single base substitution C T missense_variant R16H 47G>A UCEC-US 12 121783822 121783822 single base substitution C T missense_variant R185H 554G>A UCEC-US 12 121783822 121783822 single base substitution C T missense_variant R38H 113G>A UCEC-US 12 121783822 121783822 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G9-6356-01 COSM1127529 c.2079C>A p.N693K Substitution - Missense 12:121308669-121308669 - TCGA-D1-A167-01 COSM936016 c.788G>A p.R263H Substitution - Missense 12:121335695-121335695 - BB65-RCC COSM22083 c.1073A>G p.Y358C Substitution - Missense 12:121330632-121330632 - pfg043T COSM4760774 c.1592T>G p.L531R Substitution - Missense 12:121319742-121319742 - PCSI_0090_Pa_P COSM3376148 c.951-8G>A p.? Unknown 12:121331436-121331436 - TCGA-CG-5726-01 COSM2175710 c.1799C>T p.A600V Substitution - Missense 12:121318371-121318371 - TCGA-J7-8537-01 COSM3986697 c.1255G>T p.D419Y Substitution - Missense 12:121328365-121328365 - Pat_41_B COSM5840347 c.424G>A p.A142T Substitution - Missense 12:121346005-121346005 - TARGET-30-PANXJL COSM1283404 c.299T>G p.M100R Substitution - Missense 12:121346994-121346994 - TCGA-J9-A52C-01 COSM4877609 c.2044A>C p.K682Q Substitution - Missense 12:121309713-121309713 - TCGA-AO-A03N-01 COSM430537 c.1624G>C p.E542Q Substitution - Missense 12:121319710-121319710 - SC_9086 COSM5563885 c.2040G>A p.Q680Q Substitution - coding silent 12:121309717-121309717 - TCGA-A6-6653-01 COSM1359457 c.1404C>T p.V468V Substitution - coding silent 12:121327132-121327132 - TCGA-33-4583-01 COSM691744 c.145G>T p.E49* Substitution - Nonsense 12:121352196-121352196 - TCGA-AA-3526-01 COSM291765 c.858C>G p.A286A Substitution - coding silent 12:121335625-121335625 - HT55 COSM2175738 c.724A>T p.N242Y Substitution - Missense 12:121337326-121337326 - TCGA-EE-A29D-06 COSM3457157 c.1492C>T p.P498S Substitution - Missense 12:121320408-121320408 - RK128_C01 COSM3739470 c.288-5T>G p.? Unknown 12:121347010-121347010 - HCC65T COSM1605664 c.422T>G p.L141W Substitution - Missense 12:121346007-121346007 - B83 COSM1746809 c.610A>G p.S204G Substitution - Missense 12:121342050-121342050 - 2734_T COSM3954291 c.1745+3A>G p.? Unknown 12:121318498-121318498 - TCGA-CZ-5461-01 COSM467912 c.653A>G p.Q218R Substitution - Missense 12:121342007-121342007 - TCGA-G9-6339-01 COSM4392476 c.1259T>C p.I420T Substitution - Missense 12:121328361-121328361 - LB2518-MEL COSM22081 c.1651T>G p.L551V Substitution - Missense 12:121318595-121318595 - LIM1215 COSM4204047 c.891C>T p.G297G Substitution - coding silent 12:121335592-121335592 - PTC_221 COSM5960165 c.2043G>A p.P681P Substitution - coding silent 12:121309714-121309714 - T469 COSM4661490 c.1431C>T p.H477H Substitution - coding silent 12:121327105-121327105 - CSCC-31-T COSM4459952 c.1148C>T p.S383F Substitution - Missense 12:121328472-121328472 - TCGA-Q1-A73O-01 COSM4834475 c.1553G>C p.R518T Substitution - Missense 12:121319781-121319781 - SR COSM1677414 c.2159T>C p.L720P Substitution - Missense 12:121308589-121308589 - TCGA-BG-A0VX-01 COSM936019 c.582A>G p.V194V Substitution - coding silent 12:121345847-121345847 - HCC82T COSM1605663 c.887A>G p.Y296C Substitution - Missense 12:121335596-121335596 - B83-Tumor COSM1746809 c.610A>G p.S204G Substitution - Missense 12:121342050-121342050 - 585208 COSM324701 c.1969A>G p.I657V Substitution - Missense 12:121309788-121309788 - TCGA-B0-5110-01 COSM467911 c.1515+1G>T p.? Unknown 12:121320384-121320384 - TCGA-HT-8563-01 COSM3968030 c.69G>C p.V23V Substitution - coding silent 12:121352272-121352272 - Pat_14_B COSM5840345 c.1272G>C p.Q424H Substitution - Missense 12:121328348-121328348 - ESCC-D21 COSM5046108 c.1681C>T p.H561Y Substitution - Missense 12:121318565-121318565 - TCGA-39-5030-01 COSM202445 c.2201C>T p.A734V Substitution - Missense 12:121308547-121308547 - HCC65 COSM1605664 c.422T>G p.L141W Substitution - Missense 12:121346007-121346007 - YUPAER COSM5374407 c.1254C>T p.I418I Substitution - coding silent 12:121328366-121328366 - TCGA-21-1070-01 COSM691747 c.1300C>T p.R434C Substitution - Missense 12:121328320-121328320 - LUAD-YKER9 COSM351955 c.1208A>T p.K403M Substitution - Missense 12:121328412-121328412 - TCGA-HU-8602-01 COSM4039448 c.909C>T p.A303A Substitution - coding silent 12:121335574-121335574 - 4_RESISTANT COSM1724453 c.1516-9_1516-8insT p.? Unknown 12:121319826-121319827 - I2L-P7-Tumor-Organoid COSM3731355 c.1516-9delT p.? Unknown 12:121319827-121319827 - PCSI_0083_Pa_P_526 COSM3376147 c.1746-7C>T p.? Unknown 12:121318431-121318431 - HCC156 COSM3703905 c.521A>G p.D174G Substitution - Missense 12:121345908-121345908 - Au1 COSM5596257 c.646C>T p.L216F Substitution - Missense 12:121342014-121342014 - 0118_CRUK_PC_0118_T1_DNA COSM5423321 c.1885T>G p.F629V Substitution - Missense 12:121318285-121318285 - TCGA-BR-8078-01 COSM2175718 c.1519T>C p.W507R Substitution - Missense 12:121319815-121319815 - TCGA-85-6561-01 COSM691745 c.697C>A p.P233T Substitution - Missense 12:121337353-121337353 - CRC-29T COSM5452202 c.809C>G p.S270* Substitution - Nonsense 12:121335674-121335674 - PCSI_0090_Pa_X COSM3376148 c.951-8G>A p.? Unknown 12:121331436-121331436 - TCGA-AG-3891-01 COSM5068500 c.336_337insT p.D113fs*1 Insertion - Frameshift 12:121346956-121346957 - TCGA-66-2800-01 COSM691746 c.821T>C p.L274P Substitution - Missense 12:121335662-121335662 - T3091 COSM4661492 c.630delA p.K210fs*14 Deletion - Frameshift 12:121342030-121342030 - Pat_60_B COSM5840346 c.859G>A p.E287K Substitution - Missense 12:121335624-121335624 - TCGA-B5-A11E-01 COSM936011 c.2118C>T p.C706C Substitution - coding silent 12:121308630-121308630 - TCGA-AR-A1AI-01 COSM430535 c.1984C>T p.R662C Substitution - Missense 12:121309773-121309773 - AOCS-120-3-6 COSM3980829 c.1076T>C p.V359A Substitution - Missense 12:121330629-121330629 - CSCC-15-T COSM4521103 c.1095G>A p.V365V Substitution - coding silent 12:121330610-121330610 - TCGA-AX-A0J0-01 COSM936015 c.1006G>A p.D336N Substitution - Missense 12:121331373-121331373 - TCGA-AP-A0L9-01 COSM936012 c.1926T>A p.S642R Substitution - Missense 12:121309831-121309831 - TCGA-BS-A0UV-01 COSM936020 c.410G>A p.R137H Substitution - Missense 12:121346019-121346019 - TCGA-EE-A2GR-06 COSM3457156 c.1832C>T p.S611F Substitution - Missense 12:121318338-121318338 - HCC156T COSM3703905 c.521A>G p.D174G Substitution - Missense 12:121345908-121345908 - TCGA-BS-A0UV-01 COSM936013 c.1515+2T>A p.? Unknown 12:121320383-121320383 - TCGA-CK-5916-01 COSM202445 c.2201C>T p.A734V Substitution - Missense 12:121308547-121308547 - SA071 COSM213244 c.2245G>A p.V749I Substitution - Missense 12:121308503-121308503 - LUAD_E00565 COSM392737 c.2035delG p.D679fs*73 Deletion - Frameshift 12:121309722-121309722 - TCGA-G9-6338-01 COSM3670995 c.1504C>T p.Q502* Substitution - Nonsense 12:121320396-121320396 - TCGA-DJ-A13O-01 COSM3368686 c.1165G>A p.A389T Substitution - Missense 12:121328455-121328455 - TCGA-EB-A4IS-01 COSM3457154 c.2163C>T p.Y721Y Substitution - coding silent 12:121308585-121308585 - sysucc-1163T COSM5458333 c.1367C>T p.A456V Substitution - Missense 12:121327169-121327169 - AD48 COSM5966559 c.1102G>T p.A368S Substitution - Missense 12:121330603-121330603 - ESCC_141 COSM5643516 c.787C>T p.R263C Substitution - Missense 12:121335696-121335696 - TCGA-A5-A0GM-01 COSM936010 c.2213G>A p.R738Q Substitution - Missense 12:121308535-121308535 - TCGA-B5-A11E-01 COSM936014 c.1195A>T p.M399L Substitution - Missense 12:121328425-121328425 - ESCC_149 COSM4774717 c.1258A>G p.I420V Substitution - Missense 12:121328362-121328362 - TCGA-B6-A0IO-01 COSM430534 c.2185G>T p.E729* Substitution - Nonsense 12:121308563-121308563 - TCGA-AG-3727-01 COSM288266 c.1230G>A p.W410* Substitution - Nonsense 12:121328390-121328390 - T1154 COSM4661493 c.65A>G p.N22S Substitution - Missense 12:121352276-121352276 - T36 COSM4661491 c.1170delT p.F390fs*9 Deletion - Frameshift 12:121328450-121328450 - CP66-MEL COSM25303 c.1091_1118del28 p.S364fs*26 Deletion - Frameshift 12:121330587-121330614 - S02360 COSM5695975 c.788G>T p.R263L Substitution - Missense 12:121335695-121335695 - HCC1143 COSM25301 c.1851G>T p.Q617H Substitution - Missense 12:121318319-121318319 - TCGA-AX-A0J0-01 COSM936017 c.725A>C p.N242T Substitution - Missense 12:121337325-121337325 - TCGA-AO-A03M-01 COSM3811256 c.2202G>A p.A734A Substitution - coding silent 12:121308546-121308546 - TCGA-EE-A29E-06 COSM3457160 c.353C>T p.S118F Substitution - Missense 12:121346940-121346940 - HCC041T COSM159048 c.1800G>A p.A600A Substitution - coding silent 12:121318370-121318370 - TCGA-ER-A19E-06 COSM3457159 c.623C>T p.S208F Substitution - Missense 12:121342037-121342037 - PCSI_0083_Pa_P COSM3376147 c.1746-7C>T p.? Unknown 12:121318431-121318431 - TCGA-J7-8537-01 COSM3986696 c.1256A>G p.D419G Substitution - Missense 12:121328364-121328364 - T2940 COSM4661494 c.3G>A p.M1I Substitution - Missense 12:121352338-121352338 - ESCC_113 COSM5639576 c.1985G>A p.R662H Substitution - Missense 12:121309772-121309772 - TCGA-HT-7467-01 COSM3968029 c.1011C>T p.H337H Substitution - coding silent 12:121331368-121331368 - TCGA-BR-4368-01 COSM4039447 c.1310T>C p.M437T Substitution - Missense 12:121327226-121327226 - SNUH_G44_S1 COSM2175752 c.15C>T p.H5H Substitution - coding silent 12:121352326-121352326 - TCGA-AG-A032-01 COSM290725 c.195G>A p.L65L Substitution - coding silent 12:121352146-121352146 - TCGA-BH-A0DL-01 COSM430538 c.677A>T p.D226V Substitution - Missense 12:121337373-121337373 - T10 COSM5341927 c.496G>A p.E166K Substitution - Missense 12:121345933-121345933 - PCSI_0083_Pa_X COSM3376147 c.1746-7C>T p.? Unknown 12:121318431-121318431 - HCC1143 COSM25301 c.1851G>T p.Q617H Substitution - Missense 12:121318319-121318319 - 587222 COSM1182716 c.271A>C p.N91H Substitution - Missense 12:121347818-121347818 - PD4112a COSM159048 c.1800G>A p.A600A Substitution - coding silent 12:121318370-121318370 - TCGA-29-1784-01 COSM1322702 c.861A>G p.E287E Substitution - coding silent 12:121335622-121335622 - HCC82 COSM1605663 c.887A>G p.Y296C Substitution - Missense 12:121335596-121335596 - CSCC-6-T COSM4523312 c.1209G>A p.K403K Substitution - coding silent 12:121328411-121328411 - S02241 COSM5676756 c.1770G>T p.L590L Substitution - coding silent 12:121318400-121318400 - J88_T COSM3954292 c.529C>T p.L177L Substitution - coding silent 12:121345900-121345900 - KYSE110 COSM5049486 c.1538A>C p.K513T Substitution - Missense 12:121319796-121319796 - TCGA-CG-5728-01 COSM4039449 c.759G>A p.A253A Substitution - coding silent 12:121337291-121337291 - PT21_2 COSM5901767 c.2042C>T p.P681L Substitution - Missense 12:121309715-121309715 - HCT15 COSM2175739 c.705C>A p.S235S Substitution - coding silent 12:121337345-121337345 - TCGA-DK-A3WW-01 COSM3792271 c.1576C>T p.H526Y Substitution - Missense 12:121319758-121319758 - TCGA-AP-A0LM-01 COSM936018 c.637G>T p.E213* Substitution - Nonsense 12:121342023-121342023 - CP66-MEL COSM25302 c.1988C>T p.A663V Substitution - Missense 12:121309769-121309769 - PT21_2 COSM5901768 c.2041C>T p.P681S Substitution - Missense 12:121309716-121309716 - ESCC-F59 COSM5048174 c.157A>G p.S53G Substitution - Missense 12:121352184-121352184 - TCGA-D8-A1XQ-01 COSM3811257 c.271A>G p.N91D Substitution - Missense 12:121347818-121347818 - 8069332 COSM4406730 c.214G>C p.D72H Substitution - Missense 12:121347875-121347875 - TCGA-13-0791-01 COSM1322703 c.1453_1454GC>AT p.A485I Substitution - Missense 12:121320446-121320447 - GC_359T-GC_359N COSM4774717 c.1258A>G p.I420V Substitution - Missense 12:121328362-121328362 - TCGA-AA-3672-01 COSM265994 c.770G>A p.S257N Substitution - Missense 12:121335713-121335713 - ESCC-F27 COSM5047445 c.1244C>G p.S415* Substitution - Nonsense 12:121328376-121328376 - sysucc-274T COSM5475618 c.1405G>A p.A469T Substitution - Missense 12:121327131-121327131 - CHC1738T COSM4805338 c.759G>T p.A253A Substitution - coding silent 12:121337291-121337291 - TCGA-D3-A5GU-06 COSM3457155 c.1909C>T p.P637S Substitution - Missense 12:121309848-121309848 - TCGA-FS-A1ZA-06 COSM3457158 c.652C>A p.Q218K Substitution - Missense 12:121342008-121342008 - TCGA-AP-A0LM-01 COSM159048 c.1800G>A p.A600A Substitution - coding silent 12:121318370-121318370 - 234 COSM3731355 c.1516-9delT p.? Unknown 12:121319827-121319827 - 185T COSM4383220 c.2257A>G p.N753D Substitution - Missense 12:121308491-121308491 - SNU-175 COSM2175722 c.1313C>T p.A438V Substitution - Missense 12:121327223-121327223 - CHC1738T COSM4805338 c.759G>T p.A253A Substitution - coding silent 12:121337291-121337291 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.7101 12q24.31 606948 2473937|CGAP|BC001081|A/T|non-coding||2365|Candidate; 2473937|CGAP|BC001950|A/T|non-coding||2365|Candidate; 2473937|CGAP|BC006301|A/T|non-coding||2369|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.M100R c.299T>G 12 121784797 NB A G Missense p.I420T c.1259T>C 12 121766164 PRAD A G Missense p.L274P c.821T>C 12 121773465 LUSC A G Missense p.M437T c.1310T>C 12 121765029 STAD A T Missense p.S642R c.1926T>A 12 121747634 UCEC C A Nonsense p.E49* c.145G>T 12 121789999 LUSC C A Nonsense p.E729* c.2185G>T 12 121746366 BRCA C A SpliceDonorSNV . c.1515+1G>T 12 121758187 RCCC CG AT Missense p.R615M c.1843_1844delinsAT 12 121756129 CM C G Missense p.E542Q c.1624G>C 12 121757513 BRCA C G Missense p.L751F c.2253G>C 12 121746298 LUAD C T IntronicSNV . c.951-1469G>A 12 121770700 MB C T Missense p.A389T c.1165G>A 12 121766258 THCA C T Missense p.A600T c.1798G>A 12 121756175 HNSC C T Missense p.V749I c.2245G>A 12 121746306 BRCA C T Nonsense p.W410* c.1230G>A 12 121766193 COREAD C T Synonymous p.A253A c.759G>A 12 121775094 STAD C T Synonymous p.A600A c.1800G>A 12 121756173 BRCA C T Synonymous p.L65L c.195G>A 12 121789949 COREAD G A IntronicSNV . c.1305-40C>T 12 121765074 HC G A Missense p.A456V c.1367C>T 12 121764972 THCA G A Missense p.A600V c.1799C>T 12 121756174 STAD G A Missense p.A734V c.2201C>T 12 121746350 LUSC G A Missense p.R434C c.1300C>T 12 121766123 LUSC G A Missense p.R662C c.1984C>T 12 121747576 BRCA G A Missense p.S208F c.623C>T 12 121779840 CM G A Missense p.S611F c.1832C>T 12 121756141 CM G A Nonsense p.Q502* c.1504C>T 12 121758199 PRAD G A Synonymous p.P602P c.1806C>T 12 121756167 BRCA GC AT Missense p.A485I c.1453_1454delinsAT 12 121758249 OV G C Synonymous p.A286A c.858C>G 12 121773428 COREAD GG TT Missense p.Q209K c.624_625delinsAA 12 121779838 CM G T Missense p.N693K c.2079C>A 12 121746472 PRAD G T Missense p.P233T c.697C>A 12 121775156 LUSC G T Missense p.Q218K c.652C>A 12 121779811 CM G T Missense p.Q617H c.1851G>T 12 121756122 BRCA T A Missense p.D226V c.677A>T 12 121775176 BRCA T A Missense p.K77I c.230A>T 12 121785662 BRCA T C IntronicSNV . c.950+778A>G 12 121772558 HC T C Missense p.I657V c.1969A>G 12 121747591 SCLC