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 120990433 120990433 + Silent SNP T T C TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr12:120990433T>C c.486T>C c.(484-486)caT>caC p.H162H BLCA 12 120995374 120995374 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr12:120995374T>C c.856T>C c.(856-858)Tat>Cat p.Y286H BLCA 12 120995397 120995397 + Silent SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr12:120995397G>A c.879G>A c.(877-879)acG>acA p.T293T BLCA 12 120995412 120995412 + Missense_Mutation SNP G G C TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr12:120995412G>C c.894G>C c.(892-894)aaG>aaC p.K298N BLCA 12 120995412 120995412 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:120995412G>A c.894G>A c.(892-894)aaG>aaA p.K298K BLCA 12 120995422 120995422 + Missense_Mutation SNP G G T TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr12:120995422G>T c.904G>T c.(904-906)Ggg>Tgg p.G302W BLCA 12 120995453 120995453 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr12:120995453G>A c.935G>A c.(934-936)tGg>tAg p.W312* BLCA 12 120995453 120995453 + Nonsense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr12:120995453G>A c.935G>A c.(934-936)tGg>tAg p.W312* BLCA 12 121001343 121001343 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 g.chr12:121001343G>T c.1448G>T c.(1447-1449)tGc>tTc p.C483F BLCA 12 121001667 121001667 + Missense_Mutation SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr12:121001667G>T c.1586G>T c.(1585-1587)cGg>cTg p.R529L BLCA 12 121001720 121001720 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr12:121001720G>C c.1639G>C c.(1639-1641)Gag>Cag p.E547Q BLCA 12 121002980 121002980 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr12:121002980G>C c.1771G>C c.(1771-1773)Gag>Cag p.E591Q BLCA 12 121009011 121009011 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr12:121009011C>G c.2059C>G c.(2059-2061)Ctg>Gtg p.L687V BRCA 12 120972697 120972697 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:120972697C>T c.83C>T c.(82-84)tCg>tTg p.S28L BRCA 12 120995234 120995234 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:120995234C>T c.795C>T c.(793-795)atC>atT p.I265I BRCA 12 120995476 120995476 + Missense_Mutation SNP C C T TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 g.chr12:120995476C>T c.958C>T c.(958-960)Cat>Tat p.H320Y BRCA 12 121001615 121001615 + Missense_Mutation SNP G G A TCGA-D8-A1JP-01A-11D-A13L-09 TCGA-D8-A1JP-10A-01D-A13O-09 g.chr12:121001615G>A c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K BRCA 12 121002888 121002888 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 g.chr12:121002888G>A c.1679G>A c.(1678-1680)cGt>cAt p.R560H BRCA 12 121002970 121002970 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:121002970G>T c.1761G>T c.(1759-1761)aaG>aaT p.K587N BRCA 12 121013640 121013640 + Missense_Mutation SNP A A G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 g.chr12:121013640A>G c.2246A>G c.(2245-2247)gAg>gGg p.E749G CESC 12 121000862 121000862 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr12:121000862C>G c.1243C>G c.(1243-1245)Caa>Gaa p.Q415E COAD 12 120984350 120984350 + Silent SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr12:120984350C>T c.300C>T c.(298-300)ggC>ggT p.G100G COAD 12 120984382 120984382 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:120984382T>C c.332T>C c.(331-333)tTt>tCt p.F111S COAD 12 120984397 120984397 + Missense_Mutation SNP G G A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr12:120984397G>A c.347G>A c.(346-348)cGa>cAa p.R116Q COAD 12 120995220 120995220 + Missense_Mutation SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr12:120995220A>G c.781A>G c.(781-783)Agt>Ggt p.S261G COAD 12 120995220 120995220 + Missense_Mutation SNP A A G TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr12:120995220A>G c.781A>G c.(781-783)Agt>Ggt p.S261G COAD 12 120998651 120998651 + Missense_Mutation SNP G G A TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr12:120998651G>A c.1090G>A c.(1090-1092)Gag>Aag p.E364K COAD 12 120998652 120998652 + Missense_Mutation SNP A A G TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr12:120998652A>G c.1091A>G c.(1090-1092)gAg>gGg p.E364G COAD 12 121001288 121001288 + Missense_Mutation SNP G G A TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr12:121001288G>A c.1393G>A c.(1393-1395)Gag>Aag p.E465K COAD 12 121001289 121001289 + Missense_Mutation SNP A A C TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr12:121001289A>C c.1394A>C c.(1393-1395)gAg>gCg p.E465A COAD 12 121001654 121001654 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:121001654C>T c.1573C>T c.(1573-1575)Cgc>Tgc p.R525C COAD 12 121001676 121001676 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:121001676G>A c.1595G>A c.(1594-1596)gGc>gAc p.G532D COAD 12 121002888 121002888 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:121002888G>A c.1679G>A c.(1678-1680)cGt>cAt p.R560H COAD 12 121003293 121003293 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:121003293C>T c.1846C>T c.(1846-1848)Cgc>Tgc p.R616C COAD 12 121004723 121004723 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:121004723A>G c.1981A>G c.(1981-1983)Acc>Gcc p.T661A COAD 12 121013462 121013462 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:121013462A>G c.2171A>G c.(2170-2172)gAt>gGt p.D724G COAD 12 121013685 121013685 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:121013685C>T c.2291C>T c.(2290-2292)tCc>tTc p.S764F COADREAD 12 120984350 120984350 + Silent SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr12:120984350C>T c.300C>T c.(298-300)ggC>ggT p.G100G COADREAD 12 120984382 120984382 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:120984382T>C c.332T>C c.(331-333)tTt>tCt p.F111S COADREAD 12 120984397 120984397 + Missense_Mutation SNP G G A TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr12:120984397G>A c.347G>A c.(346-348)cGa>cAa p.R116Q COADREAD 12 120995220 120995220 + Missense_Mutation SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr12:120995220A>G c.781A>G c.(781-783)Agt>Ggt p.S261G COADREAD 12 120995220 120995220 + Missense_Mutation SNP A A G TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr12:120995220A>G c.781A>G c.(781-783)Agt>Ggt p.S261G COADREAD 12 120998651 120998651 + Missense_Mutation SNP G G A TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr12:120998651G>A c.1090G>A c.(1090-1092)Gag>Aag p.E364K COADREAD 12 120998652 120998652 + Missense_Mutation SNP A A G TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr12:120998652A>G c.1091A>G c.(1090-1092)gAg>gGg p.E364G COADREAD 12 120998652 120998652 + Missense_Mutation SNP A A G TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr12:120998652A>G c.1091A>G c.(1090-1092)gAg>gGg p.E364G COADREAD 12 121001288 121001288 + Missense_Mutation SNP G G A TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr12:121001288G>A c.1393G>A c.(1393-1395)Gag>Aag p.E465K COADREAD 12 121001289 121001289 + Missense_Mutation SNP A A C TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr12:121001289A>C c.1394A>C c.(1393-1395)gAg>gCg p.E465A COADREAD 12 121001654 121001654 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:121001654C>T c.1573C>T c.(1573-1575)Cgc>Tgc p.R525C COADREAD 12 121001676 121001676 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:121001676G>A c.1595G>A c.(1594-1596)gGc>gAc p.G532D COADREAD 12 121002888 121002888 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:121002888G>A c.1679G>A c.(1678-1680)cGt>cAt p.R560H COADREAD 12 121003293 121003293 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:121003293C>T c.1846C>T c.(1846-1848)Cgc>Tgc p.R616C COADREAD 12 121004723 121004723 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:121004723A>G c.1981A>G c.(1981-1983)Acc>Gcc p.T661A COADREAD 12 121013462 121013462 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:121013462A>G c.2171A>G c.(2170-2172)gAt>gGt p.D724G COADREAD 12 121013487 121013487 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:121013487G>T c.2196G>T c.(2194-2196)aaG>aaT p.K732N COADREAD 12 121013685 121013685 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:121013685C>T c.2291C>T c.(2290-2292)tCc>tTc p.S764F DLBC 12 121014414 121014414 + Missense_Mutation SNP G G C TCGA-FA-A6HO-01A-11D-A31X-10 TCGA-FA-A6HO-10A-01D-A31X-10 g.chr12:121014414G>C c.2381G>C c.(2380-2382)aGa>aCa p.R794T ESCA 12 120984267 120984267 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr12:120984267delA c.217delA c.(217-219)aaafs p.K73fs ESCA 12 120995414 120995414 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr12:120995414G>A c.896G>A c.(895-897)aGg>aAg p.R299K ESCA 12 121001268 121001268 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr12:121001268C>A c.1373C>A c.(1372-1374)cCa>cAa p.P458Q ESCA 12 121004647 121004647 + Silent SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr12:121004647C>A c.1905C>A c.(1903-1905)ccC>ccA p.P635P GBMLGG 12 120995185 120995185 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:120995185T>C c.746T>C c.(745-747)aTc>aCc p.I249T GBMLGG 12 120995485 120995485 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:120995485G>T c.967G>T c.(967-969)Gat>Tat p.D323Y GBMLGG 12 121000755 121000755 + Missense_Mutation SNP A A G TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:121000755A>G c.1136A>G c.(1135-1137)gAa>gGa p.E379G HNSC 12 120972711 120972711 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr12:120972711G>T c.97G>T c.(97-99)Ggg>Tgg p.G33W HNSC 12 120972767 120972767 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 g.chr12:120972767G>C c.153G>C c.(151-153)aaG>aaC p.K51N HNSC 12 120995094 120995094 + Missense_Mutation SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 g.chr12:120995094A>G c.655A>G c.(655-657)Agc>Ggc p.S219G HNSC 12 120995255 120995255 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr12:120995255G>C c.816G>C c.(814-816)aaG>aaC p.K272N HNSC 12 120995384 120995384 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr12:120995384G>A c.866G>A c.(865-867)gGt>gAt p.G289D HNSC 12 121000765 121000765 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr12:121000765G>T c.1146G>T c.(1144-1146)ctG>ctT p.L382L HNSC 12 121009002 121009002 + Silent SNP C C T TCGA-CN-A498-01A-11D-A24D-08 TCGA-CN-A498-10A-01D-A24F-08 g.chr12:121009002C>T c.2050C>T c.(2050-2052)Ctg>Ttg p.L684L HNSC 12 121013686 121013686 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr12:121013686C>T c.2292C>T c.(2290-2292)tcC>tcT p.S764S KICH 12 120972755 120972755 + Silent SNP G G A TCGA-KN-8423-01A-11D-2310-10 TCGA-KN-8423-11A-01D-2310-10 g.chr12:120972755G>A c.141G>A c.(139-141)gaG>gaA p.E47E KICH 12 121000814 121000814 + Missense_Mutation SNP C C A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr12:121000814C>A c.1195C>A c.(1195-1197)Ctg>Atg p.L399M KIPAN 12 120972755 120972755 + Silent SNP G G A TCGA-KN-8423-01A-11D-2310-10 TCGA-KN-8423-11A-01D-2310-10 g.chr12:120972755G>A c.141G>A c.(139-141)gaG>gaA p.E47E KIPAN 12 121000814 121000814 + Missense_Mutation SNP C C A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr12:121000814C>A c.1195C>A c.(1195-1197)Ctg>Atg p.L399M KIPAN 12 121002894 121002894 + Missense_Mutation SNP G G T TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr12:121002894G>T c.1685G>T c.(1684-1686)aGa>aTa p.R562I KIPAN 12 121004766 121004766 + Missense_Mutation SNP G G C TCGA-BP-5194-01A-02D-1429-08 TCGA-BP-5194-11A-01D-1429-08 g.chr12:121004766G>C c.2024G>C c.(2023-2025)aGt>aCt p.S675T KIPAN 12 121013657 121013657 + Missense_Mutation SNP C C T TCGA-2Z-A9JI-01A-11D-A42J-10 TCGA-2Z-A9JI-10A-01D-A42M-10 g.chr12:121013657C>T c.2263C>T c.(2263-2265)Cgt>Tgt p.R755C KIPAN 12 121013684 121013684 + Missense_Mutation SNP T T C TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr12:121013684T>C c.2290T>C c.(2290-2292)Tcc>Ccc p.S764P KIRC 12 121002894 121002894 + Missense_Mutation SNP G G T TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr12:121002894G>T c.1685G>T c.(1684-1686)aGa>aTa p.R562I KIRC 12 121004766 121004766 + Missense_Mutation SNP G G C TCGA-BP-5194-01A-02D-1429-08 TCGA-BP-5194-11A-01D-1429-08 g.chr12:121004766G>C c.2024G>C c.(2023-2025)aGt>aCt p.S675T KIRC 12 121013684 121013684 + Missense_Mutation SNP T T C TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr12:121013684T>C c.2290T>C c.(2290-2292)Tcc>Ccc p.S764P KIRP 12 121013657 121013657 + Missense_Mutation SNP C C T TCGA-2Z-A9JI-01A-11D-A42J-10 TCGA-2Z-A9JI-10A-01D-A42M-10 g.chr12:121013657C>T c.2263C>T c.(2263-2265)Cgt>Tgt p.R755C LGG 12 120995185 120995185 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:120995185T>C c.746T>C c.(745-747)aTc>aCc p.I249T LGG 12 120995485 120995485 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:120995485G>T c.967G>T c.(967-969)Gat>Tat p.D323Y LGG 12 121000755 121000755 + Missense_Mutation SNP A A G TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:121000755A>G c.1136A>G c.(1135-1137)gAa>gGa p.E379G LIHC 12 121013648 121013648 + Missense_Mutation SNP A A T TCGA-DD-A115-01A-11D-A12Z-10 TCGA-DD-A115-10A-01D-A12Z-10 g.chr12:121013648A>T c.2254A>T c.(2254-2256)Aat>Tat p.N752Y LUAD 12 120984244 120984244 + Missense_Mutation SNP G G A TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr12:120984244G>A c.194G>A c.(193-195)cGc>cAc p.R65H LUAD 12 120984337 120984337 + Missense_Mutation SNP C C T TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr12:120984337C>T c.287C>T c.(286-288)cCt>cTt p.P96L LUAD 12 120995377 120995377 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 g.chr12:120995377G>T c.859G>T c.(859-861)Gtt>Ttt p.V287F LUAD 12 120995422 120995422 + Missense_Mutation SNP G G A TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr12:120995422G>A c.904G>A c.(904-906)Ggg>Agg p.G302R LUAD 12 121000748 121000748 + Splice_Site SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr12:121000748A>G c.1129A>G c.(1129-1131)Act>Gct p.T377A LUAD 12 121001251 121001251 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr12:121001251G>A c.1356G>A c.(1354-1356)gaG>gaA p.E452E LUAD 12 121001395 121001395 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr12:121001395C>A c.1500C>A c.(1498-1500)ctC>ctA p.L500L LUAD 12 121001687 121001687 + Missense_Mutation SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr12:121001687A>T c.1606A>T c.(1606-1608)Agg>Tgg p.R536W LUAD 12 121004691 121004691 + Missense_Mutation SNP G G C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr12:121004691G>C c.1949G>C c.(1948-1950)tGc>tCc p.C650S LUAD 12 121009089 121009089 + Missense_Mutation SNP G G T TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr12:121009089G>T c.2137G>T c.(2137-2139)Gcc>Tcc p.A713S LUAD 12 121013751 121013751 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr12:121013751C>T c.2357C>T c.(2356-2358)tCt>tTt p.S786F LUSC 12 120972765 120972765 + Missense_Mutation SNP A A C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr12:120972765A>C c.151A>C c.(151-153)Aag>Cag p.K51Q LUSC 12 120995234 120995234 + Missense_Mutation SNP C C G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 g.chr12:120995234C>G c.795C>G c.(793-795)atC>atG p.I265M LUSC 12 121001268 121001268 + Missense_Mutation SNP C C G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr12:121001268C>G c.1373C>G c.(1372-1374)cCa>cGa p.P458R OV 12 120995221 120995221 + Missense_Mutation SNP G G A TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 g.chr12:120995221G>A c.782G>A c.(781-783)aGt>aAt p.S261N OV 12 121004651 121004651 + Missense_Mutation SNP G G A TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 g.chr12:121004651G>A c.1909G>A c.(1909-1911)Gag>Aag p.E637K PAAD 12 120984244 120984244 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:120984244G>A c.194G>A c.(193-195)cGc>cAc p.R65H PAAD 12 121000776 121000776 + Missense_Mutation SNP C C T TCGA-XD-AAUH-01A-42D-A40W-08 TCGA-XD-AAUH-11A-11D-A40W-08 g.chr12:121000776C>T c.1157C>T c.(1156-1158)gCc>gTc p.A386V PCPG 12 121002881 121002881 + Nonsense_Mutation SNP C C T TCGA-QR-A70P-01A-11D-A35D-08 TCGA-QR-A70P-10A-01D-A35B-08 g.chr12:121002881C>T c.1672C>T c.(1672-1674)Cga>Tga p.R558* PRAD 12 120990388 120990388 + Silent SNP T T G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 g.chr12:120990388T>G c.441T>G c.(439-441)acT>acG p.T147T READ 12 120998652 120998652 + Missense_Mutation SNP A A G TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr12:120998652A>G c.1091A>G c.(1090-1092)gAg>gGg p.E364G READ 12 121013487 121013487 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:121013487G>T c.2196G>T c.(2194-2196)aaG>aaT p.K732N SKCM 12 120984355 120984355 + Missense_Mutation SNP G G A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr12:120984355G>A c.305G>A c.(304-306)gGc>gAc p.G102D SKCM 12 120990331 120990331 + Silent SNP C C T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr12:120990331C>T c.384C>T c.(382-384)agC>agT p.S128S SKCM 12 120992561 120992561 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:120992561C>T c.595C>T c.(595-597)Cat>Tat p.H199Y SKCM 12 120995135 120995135 + Silent SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr12:120995135T>C c.696T>C c.(694-696)ccT>ccC p.P232P SKCM 12 121000839 121000839 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:121000839C>T c.1220C>T c.(1219-1221)cCc>cTc p.P407L SKCM 12 121000873 121000873 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr12:121000873G>A c.1254G>A c.(1252-1254)aaG>aaA p.K418K SKCM 12 121002954 121002954 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:121002954C>T c.1745C>T c.(1744-1746)cCt>cTt p.P582L SKCM 12 121004729 121004729 + Missense_Mutation SNP G G A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr12:121004729G>A c.1987G>A c.(1987-1989)Ggc>Agc p.G663S SKCM 12 121009075 121009075 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr12:121009075C>T c.2123C>T c.(2122-2124)cCc>cTc p.P708L

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 120966864 120966864 single base substitution G A upstream_gene_variant BLCA-US 12 120966898 120966898 single base substitution C T upstream_gene_variant BLCA-US 12 120995374 120995374 single base substitution T C 3_prime_UTR_variant BLCA-US 12 120995374 120995374 single base substitution T C downstream_gene_variant BLCA-US 12 120995374 120995374 single base substitution T C exon_variant BLCA-US 12 120995374 120995374 single base substitution T C intron_variant BLCA-US 12 120995374 120995374 single base substitution T C missense_variant Y286H 856T>C BLCA-US 12 120995374 120995374 single base substitution T C missense_variant Y83H 247T>C BLCA-US 12 120995374 120995374 single base substitution T C upstream_gene_variant BLCA-US 12 120995412 120995412 single base substitution G A 3_prime_UTR_variant BLCA-US 12 120995412 120995412 single base substitution G A downstream_gene_variant BLCA-US 12 120995412 120995412 single base substitution G A exon_variant BLCA-US 12 120995412 120995412 single base substitution G A intron_variant BLCA-US 12 120995412 120995412 single base substitution G A synonymous_variant K298K 894G>A BLCA-US 12 120995412 120995412 single base substitution G A synonymous_variant K95K 285G>A BLCA-US 12 120995412 120995412 single base substitution G A upstream_gene_variant BLCA-US 12 120995453 120995453 single base substitution G A downstream_gene_variant BLCA-US 12 120995453 120995453 single base substitution G A exon_variant BLCA-US 12 120995453 120995453 single base substitution G A intron_variant BLCA-US 12 120995453 120995453 single base substitution G A stop_gained W109* 326G>A BLCA-US 12 120995453 120995453 single base substitution G A stop_gained W312* 935G>A BLCA-US 12 120995453 120995453 single base substitution G A upstream_gene_variant BLCA-US 12 121001667 121001667 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 12 121001667 121001667 single base substitution G T downstream_gene_variant BLCA-US 12 121001667 121001667 single base substitution G T exon_variant BLCA-US 12 121001667 121001667 single base substitution G T missense_variant R529L 1586G>T BLCA-US 12 121001667 121001667 single base substitution G T missense_variant R534L 1601G>T BLCA-US 12 121001667 121001667 single base substitution G T missense_variant R73L 218G>T BLCA-US 12 121001667 121001667 single base substitution G T upstream_gene_variant BLCA-US 12 121001720 121001720 single base substitution G C 5_prime_UTR_variant BLCA-US 12 121001720 121001720 single base substitution G C downstream_gene_variant BLCA-US 12 121001720 121001720 single base substitution G C exon_variant BLCA-US 12 121001720 121001720 single base substitution G C missense_variant E547Q 1639G>C BLCA-US 12 121001720 121001720 single base substitution G C missense_variant E552Q 1654G>C BLCA-US 12 121001720 121001720 single base substitution G C missense_variant E91Q 271G>C BLCA-US 12 121001720 121001720 single base substitution G C upstream_gene_variant BLCA-US 12 121002980 121002980 single base substitution G C downstream_gene_variant BLCA-US 12 121002980 121002980 single base substitution G C exon_variant BLCA-US 12 121002980 121002980 single base substitution G C missense_variant E135Q 403G>C BLCA-US 12 121002980 121002980 single base substitution G C missense_variant E39Q 115G>C BLCA-US 12 121002980 121002980 single base substitution G C missense_variant E591Q 1771G>C BLCA-US 12 121002980 121002980 single base substitution G C missense_variant E596Q 1786G>C BLCA-US 12 121002980 121002980 single base substitution G C upstream_gene_variant BLCA-US 12 121018922 121018922 single base substitution G A downstream_gene_variant BRCA-EU 12 120967043 120967043 single base substitution G A upstream_gene_variant BRCA-EU 12 120970465 120970465 single base substitution C G upstream_gene_variant BRCA-EU 12 120970775 120970775 single base substitution C G upstream_gene_variant BRCA-EU 12 120971232 120971232 single base substitution G C upstream_gene_variant BRCA-EU 12 120971266 120971266 deletion of <=200bp C - upstream_gene_variant BRCA-EU 12 120971702 120971702 single base substitution C T intron_variant BRCA-EU 12 120971702 120971702 single base substitution C T upstream_gene_variant BRCA-EU 12 120974969 120974969 single base substitution C T downstream_gene_variant BRCA-EU 12 120974969 120974969 single base substitution C T intron_variant BRCA-EU 12 120975512 120975512 single base substitution G C downstream_gene_variant BRCA-EU 12 120975512 120975512 single base substitution G C intron_variant BRCA-EU 12 120975908 120975908 single base substitution C T downstream_gene_variant BRCA-EU 12 120975908 120975908 single base substitution C T intron_variant BRCA-EU 12 120977701 120977701 single base substitution C T intron_variant BRCA-EU 12 120978031 120978031 single base substitution G T intron_variant BRCA-EU 12 120978775 120978775 single base substitution C T intron_variant BRCA-EU 12 120979943 120979943 single base substitution A T intron_variant BRCA-EU 12 120979943 120979943 single base substitution A T upstream_gene_variant BRCA-EU 12 120980172 120980172 single base substitution G T intron_variant BRCA-EU 12 120980172 120980172 single base substitution G T upstream_gene_variant BRCA-EU 12 120980465 120980465 single base substitution C T intron_variant BRCA-EU 12 120980465 120980465 single base substitution C T upstream_gene_variant BRCA-EU 12 120981403 120981403 single base substitution G C intron_variant BRCA-EU 12 120981403 120981403 single base substitution G C upstream_gene_variant BRCA-EU 12 120982682 120982682 single base substitution A G intron_variant BRCA-EU 12 120982682 120982682 single base substitution A G upstream_gene_variant BRCA-EU 12 120983194 120983194 single base substitution A T intron_variant BRCA-EU 12 120983194 120983194 single base substitution A T upstream_gene_variant BRCA-EU 12 120983308 120983308 single base substitution A G intron_variant BRCA-EU 12 120983308 120983308 single base substitution A G upstream_gene_variant BRCA-EU 12 120983528 120983528 single base substitution C G intron_variant BRCA-EU 12 120983528 120983528 single base substitution C G upstream_gene_variant BRCA-EU 12 120984287 120984287 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 120984287 120984287 single base substitution C A exon_variant BRCA-EU 12 120984287 120984287 single base substitution C A intron_variant BRCA-EU 12 120984287 120984287 single base substitution C A missense_variant N29K 87C>A BRCA-EU 12 120984287 120984287 single base substitution C A missense_variant N79K 237C>A BRCA-EU 12 120984867 120984867 single base substitution C T intron_variant BRCA-EU 12 120987028 120987028 single base substitution G A intron_variant BRCA-EU 12 120987272 120987272 single base substitution G A intron_variant BRCA-EU 12 120987272 120987272 single base substitution G A upstream_gene_variant BRCA-EU 12 120987818 120987818 single base substitution G C intron_variant BRCA-EU 12 120987818 120987818 single base substitution G C upstream_gene_variant BRCA-EU 12 120989874 120989874 single base substitution G A intron_variant BRCA-EU 12 120989874 120989874 single base substitution G A upstream_gene_variant BRCA-EU 12 120990811 120990811 single base substitution T G downstream_gene_variant BRCA-EU 12 120990811 120990811 single base substitution T G intron_variant BRCA-EU 12 120990811 120990811 single base substitution T G upstream_gene_variant BRCA-EU 12 120991072 120991072 single base substitution T A downstream_gene_variant BRCA-EU 12 120991072 120991072 single base substitution T A intron_variant BRCA-EU 12 120991072 120991072 single base substitution T A upstream_gene_variant BRCA-EU 12 120991494 120991494 single base substitution C T downstream_gene_variant BRCA-EU 12 120991494 120991494 single base substitution C T intron_variant BRCA-EU 12 120991494 120991494 single base substitution C T upstream_gene_variant BRCA-EU 12 120992794 120992794 single base substitution C T downstream_gene_variant BRCA-EU 12 120992794 120992794 single base substitution C T intron_variant BRCA-EU 12 120992794 120992794 single base substitution C T upstream_gene_variant BRCA-EU 12 120994234 120994234 single base substitution T C downstream_gene_variant BRCA-EU 12 120994234 120994234 single base substitution T C intron_variant BRCA-EU 12 120994234 120994234 single base substitution T C upstream_gene_variant BRCA-EU 12 120994321 120994321 single base substitution G A downstream_gene_variant BRCA-EU 12 120994321 120994321 single base substitution G A intron_variant BRCA-EU 12 120994321 120994321 single base substitution G A upstream_gene_variant BRCA-EU 12 120994445 120994445 single base substitution G A downstream_gene_variant BRCA-EU 12 120994445 120994445 single base substitution G A intron_variant BRCA-EU 12 120994445 120994445 single base substitution G A upstream_gene_variant BRCA-EU 12 120994933 120994933 single base substitution T G downstream_gene_variant BRCA-EU 12 120994933 120994933 single base substitution T G intron_variant BRCA-EU 12 120994933 120994933 single base substitution T G upstream_gene_variant BRCA-EU 12 120995236 120995236 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 120995236 120995236 single base substitution G A downstream_gene_variant BRCA-EU 12 120995236 120995236 single base substitution G A intron_variant BRCA-EU 12 120995236 120995236 single base substitution G A missense_variant C266Y 797G>A BRCA-EU 12 120995236 120995236 single base substitution G A missense_variant C63Y 188G>A BRCA-EU 12 120995236 120995236 single base substitution G A upstream_gene_variant BRCA-EU 12 120996479 120996479 single base substitution C T downstream_gene_variant BRCA-EU 12 120996479 120996479 single base substitution C T intron_variant BRCA-EU 12 120996479 120996479 single base substitution C T upstream_gene_variant BRCA-EU 12 120998526 120998526 single base substitution T C downstream_gene_variant BRCA-EU 12 120998526 120998526 single base substitution T C intron_variant BRCA-EU 12 120998526 120998526 single base substitution T C splice_region_variant BRCA-EU 12 120998526 120998526 single base substitution T C upstream_gene_variant BRCA-EU 12 120999469 120999469 single base substitution G C downstream_gene_variant BRCA-EU 12 120999469 120999469 single base substitution G C intron_variant BRCA-EU 12 120999469 120999469 single base substitution G C upstream_gene_variant BRCA-EU 12 120999588 120999588 single base substitution A G downstream_gene_variant BRCA-EU 12 120999588 120999588 single base substitution A G intron_variant BRCA-EU 12 120999588 120999588 single base substitution A G upstream_gene_variant BRCA-EU 12 121000954 121000954 single base substitution A C downstream_gene_variant BRCA-EU 12 121000954 121000954 single base substitution A C exon_variant BRCA-EU 12 121000954 121000954 single base substitution A C intron_variant BRCA-EU 12 121000954 121000954 single base substitution A C upstream_gene_variant BRCA-EU 12 121002210 121002210 single base substitution C T downstream_gene_variant BRCA-EU 12 121002210 121002210 single base substitution C T intron_variant BRCA-EU 12 121002210 121002210 single base substitution C T upstream_gene_variant BRCA-EU 12 121002270 121002270 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 121002270 121002270 deletion of <=200bp A - intron_variant BRCA-EU 12 121002270 121002270 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 121002351 121002351 single base substitution T C downstream_gene_variant BRCA-EU 12 121002351 121002351 single base substitution T C intron_variant BRCA-EU 12 121002351 121002351 single base substitution T C upstream_gene_variant BRCA-EU 12 121003288 121003288 single base substitution G A downstream_gene_variant BRCA-EU 12 121003288 121003288 single base substitution G A exon_variant BRCA-EU 12 121003288 121003288 single base substitution G A missense_variant R158Q 473G>A BRCA-EU 12 121003288 121003288 single base substitution G A missense_variant R1Q 2G>A BRCA-EU 12 121003288 121003288 single base substitution G A missense_variant R614Q 1841G>A BRCA-EU 12 121003288 121003288 single base substitution G A missense_variant R619Q 1856G>A BRCA-EU 12 121003288 121003288 single base substitution G A missense_variant R62Q 185G>A BRCA-EU 12 121003288 121003288 single base substitution G A upstream_gene_variant BRCA-EU 12 121005277 121005277 single base substitution G A downstream_gene_variant BRCA-EU 12 121005277 121005277 single base substitution G A intron_variant BRCA-EU 12 121005277 121005277 single base substitution G A upstream_gene_variant BRCA-EU 12 121006858 121006858 single base substitution C T downstream_gene_variant BRCA-EU 12 121006858 121006858 single base substitution C T intron_variant BRCA-EU 12 121006858 121006858 single base substitution C T upstream_gene_variant BRCA-EU 12 121007631 121007631 single base substitution G A downstream_gene_variant BRCA-EU 12 121007631 121007631 single base substitution G A intron_variant BRCA-EU 12 121007631 121007631 single base substitution G A upstream_gene_variant BRCA-EU 12 121007694 121007694 insertion of <=200bp - TTTTG downstream_gene_variant BRCA-EU 12 121007694 121007694 insertion of <=200bp - TTTTG intron_variant BRCA-EU 12 121007694 121007694 insertion of <=200bp - TTTTG upstream_gene_variant BRCA-EU 12 121007735 121007735 single base substitution G A downstream_gene_variant BRCA-EU 12 121007735 121007735 single base substitution G A intron_variant BRCA-EU 12 121007735 121007735 single base substitution G A upstream_gene_variant BRCA-EU 12 121007913 121007913 single base substitution C A downstream_gene_variant BRCA-EU 12 121007913 121007913 single base substitution C A intron_variant BRCA-EU 12 121007913 121007913 single base substitution C A upstream_gene_variant BRCA-EU 12 121008240 121008240 single base substitution C A downstream_gene_variant BRCA-EU 12 121008240 121008240 single base substitution C A intron_variant BRCA-EU 12 121009046 121009046 single base substitution C T downstream_gene_variant BRCA-EU 12 121009046 121009046 single base substitution C T exon_variant BRCA-EU 12 121009046 121009046 single base substitution C T intron_variant BRCA-EU 12 121009046 121009046 single base substitution C T synonymous_variant F33F 99C>T BRCA-EU 12 121009046 121009046 single base substitution C T synonymous_variant F698F 2094C>T BRCA-EU 12 121009046 121009046 single base substitution C T synonymous_variant F703F 2109C>T BRCA-EU 12 121009046 121009046 single base substitution C T upstream_gene_variant BRCA-EU 12 121010128 121010128 single base substitution C G intron_variant BRCA-EU 12 121010128 121010128 single base substitution C G upstream_gene_variant BRCA-EU 12 121011049 121011049 single base substitution C T intron_variant BRCA-EU 12 121011049 121011049 single base substitution C T upstream_gene_variant BRCA-EU 12 121011211 121011214 deletion of <=200bp TTGT - intron_variant BRCA-EU 12 121011211 121011214 deletion of <=200bp TTGT - upstream_gene_variant BRCA-EU 12 121014000 121014000 single base substitution T C downstream_gene_variant BRCA-EU 12 121014000 121014000 single base substitution T C intron_variant BRCA-EU 12 121014988 121014988 single base substitution T G 3_prime_UTR_variant BRCA-EU 12 121014988 121014988 single base substitution T G downstream_gene_variant BRCA-EU 12 121014988 121014988 single base substitution T G exon_variant BRCA-EU 12 121015549 121015549 single base substitution T C downstream_gene_variant BRCA-EU 12 121016792 121016792 single base substitution G C downstream_gene_variant BRCA-EU 12 121018730 121018730 single base substitution G C downstream_gene_variant BRCA-EU 12 121019648 121019648 single base substitution T A downstream_gene_variant BRCA-EU 12 121020012 121020012 single base substitution G C downstream_gene_variant BRCA-FR 12 120970465 120970465 single base substitution C G upstream_gene_variant BRCA-FR 12 120978775 120978775 single base substitution C T intron_variant BRCA-FR 12 120980172 120980172 single base substitution G T intron_variant BRCA-FR 12 120980172 120980172 single base substitution G T upstream_gene_variant BRCA-FR 12 120980465 120980465 single base substitution C T intron_variant BRCA-FR 12 120980465 120980465 single base substitution C T upstream_gene_variant BRCA-FR 12 120981403 120981403 single base substitution G C intron_variant BRCA-FR 12 120981403 120981403 single base substitution G C upstream_gene_variant BRCA-FR 12 120983301 120983301 single base substitution A T intron_variant BRCA-FR 12 120983301 120983301 single base substitution A T upstream_gene_variant BRCA-FR 12 120987272 120987272 single base substitution G A intron_variant BRCA-FR 12 120987272 120987272 single base substitution G A upstream_gene_variant BRCA-FR 12 120987818 120987818 single base substitution G C intron_variant BRCA-FR 12 120987818 120987818 single base substitution G C upstream_gene_variant BRCA-FR 12 120992794 120992794 single base substitution C T downstream_gene_variant BRCA-FR 12 120992794 120992794 single base substitution C T intron_variant BRCA-FR 12 120992794 120992794 single base substitution C T upstream_gene_variant BRCA-FR 12 120994157 120994157 single base substitution G A downstream_gene_variant BRCA-FR 12 120994157 120994157 single base substitution G A intron_variant BRCA-FR 12 120994157 120994157 single base substitution G A upstream_gene_variant BRCA-FR 12 120994321 120994321 single base substitution G A downstream_gene_variant BRCA-FR 12 120994321 120994321 single base substitution G A intron_variant BRCA-FR 12 120994321 120994321 single base substitution G A upstream_gene_variant BRCA-FR 12 120994445 120994445 single base substitution G A downstream_gene_variant BRCA-FR 12 120994445 120994445 single base substitution G A intron_variant BRCA-FR 12 120994445 120994445 single base substitution G A upstream_gene_variant BRCA-FR 12 121002210 121002210 single base substitution C T downstream_gene_variant BRCA-FR 12 121002210 121002210 single base substitution C T intron_variant BRCA-FR 12 121002210 121002210 single base substitution C T upstream_gene_variant BRCA-FR 12 121003322 121003322 single base substitution A G downstream_gene_variant BRCA-FR 12 121003322 121003322 single base substitution A G exon_variant BRCA-FR 12 121003322 121003322 single base substitution A G synonymous_variant K12K 36A>G BRCA-FR 12 121003322 121003322 single base substitution A G synonymous_variant K169K 507A>G BRCA-FR 12 121003322 121003322 single base substitution A G synonymous_variant K625K 1875A>G BRCA-FR 12 121003322 121003322 single base substitution A G synonymous_variant K630K 1890A>G BRCA-FR 12 121003322 121003322 single base substitution A G synonymous_variant K73K 219A>G BRCA-FR 12 121003322 121003322 single base substitution A G upstream_gene_variant BRCA-FR 12 121007735 121007735 single base substitution G A downstream_gene_variant BRCA-FR 12 121007735 121007735 single base substitution G A intron_variant BRCA-FR 12 121007735 121007735 single base substitution G A upstream_gene_variant BRCA-FR 12 121008240 121008240 single base substitution C A downstream_gene_variant BRCA-FR 12 121008240 121008240 single base substitution C A intron_variant BRCA-KR 12 121000884 121000884 single base substitution T G downstream_gene_variant BRCA-KR 12 121000884 121000884 single base substitution T G exon_variant BRCA-KR 12 121000884 121000884 single base substitution T G intron_variant BRCA-KR 12 121000884 121000884 single base substitution T G upstream_gene_variant BRCA-UK 12 120972838 120972838 single base substitution C G downstream_gene_variant BRCA-UK 12 120972838 120972838 single base substitution C G intron_variant BRCA-UK 12 120972838 120972838 single base substitution C G upstream_gene_variant BRCA-UK 12 120996479 120996479 single base substitution C T downstream_gene_variant BRCA-UK 12 120996479 120996479 single base substitution C T intron_variant BRCA-UK 12 120996479 120996479 single base substitution C T upstream_gene_variant BRCA-UK 12 121007913 121007913 single base substitution C A downstream_gene_variant BRCA-UK 12 121007913 121007913 single base substitution C A intron_variant BRCA-UK 12 121007913 121007913 single base substitution C A upstream_gene_variant BRCA-UK 12 121011222 121011222 single base substitution C G intron_variant BRCA-UK 12 121011222 121011222 single base substitution C G upstream_gene_variant BRCA-UK 12 121017702 121017702 single base substitution C G downstream_gene_variant BRCA-US 12 120966842 120966842 single base substitution C A upstream_gene_variant BRCA-US 12 120972697 120972697 single base substitution C T downstream_gene_variant BRCA-US 12 120972697 120972697 single base substitution C T exon_variant BRCA-US 12 120972697 120972697 single base substitution C T missense_variant S28L 83C>T BRCA-US 12 120972697 120972697 single base substitution C T upstream_gene_variant BRCA-US 12 120995234 120995234 single base substitution C T 3_prime_UTR_variant BRCA-US 12 120995234 120995234 single base substitution C T downstream_gene_variant BRCA-US 12 120995234 120995234 single base substitution C T intron_variant BRCA-US 12 120995234 120995234 single base substitution C T synonymous_variant I265I 795C>T BRCA-US 12 120995234 120995234 single base substitution C T synonymous_variant I62I 186C>T BRCA-US 12 120995234 120995234 single base substitution C T upstream_gene_variant BRCA-US 12 120995476 120995476 single base substitution C T downstream_gene_variant BRCA-US 12 120995476 120995476 single base substitution C T exon_variant BRCA-US 12 120995476 120995476 single base substitution C T intron_variant BRCA-US 12 120995476 120995476 single base substitution C T missense_variant H117Y 349C>T BRCA-US 12 120995476 120995476 single base substitution C T missense_variant H320Y 958C>T BRCA-US 12 120995476 120995476 single base substitution C T upstream_gene_variant BRCA-US 12 121001615 121001615 single base substitution G A downstream_gene_variant BRCA-US 12 121001615 121001615 single base substitution G A exon_variant BRCA-US 12 121001615 121001615 single base substitution G A missense_variant E512K 1534G>A BRCA-US 12 121001615 121001615 single base substitution G A missense_variant E517K 1549G>A BRCA-US 12 121001615 121001615 single base substitution G A splice_region_variant BRCA-US 12 121001615 121001615 single base substitution G A upstream_gene_variant BRCA-US 12 121002888 121002888 single base substitution G A downstream_gene_variant BRCA-US 12 121002888 121002888 single base substitution G A exon_variant BRCA-US 12 121002888 121002888 single base substitution G A missense_variant R104H 311G>A BRCA-US 12 121002888 121002888 single base substitution G A missense_variant R560H 1679G>A BRCA-US 12 121002888 121002888 single base substitution G A missense_variant R565H 1694G>A BRCA-US 12 121002888 121002888 single base substitution G A missense_variant R8H 23G>A BRCA-US 12 121002888 121002888 single base substitution G A upstream_gene_variant BRCA-US 12 121002970 121002970 single base substitution G T downstream_gene_variant BRCA-US 12 121002970 121002970 single base substitution G T exon_variant BRCA-US 12 121002970 121002970 single base substitution G T missense_variant K131N 393G>T BRCA-US 12 121002970 121002970 single base substitution G T missense_variant K35N 105G>T BRCA-US 12 121002970 121002970 single base substitution G T missense_variant K587N 1761G>T BRCA-US 12 121002970 121002970 single base substitution G T missense_variant K592N 1776G>T BRCA-US 12 121002970 121002970 single base substitution G T upstream_gene_variant BRCA-US 12 121013640 121013640 single base substitution A G 3_prime_UTR_variant BRCA-US 12 121013640 121013640 single base substitution A G downstream_gene_variant BRCA-US 12 121013640 121013640 single base substitution A G exon_variant BRCA-US 12 121013640 121013640 single base substitution A G missense_variant E749G 2246A>G BRCA-US 12 121013640 121013640 single base substitution A G missense_variant E754G 2261A>G BRCA-US 12 121013640 121013640 single base substitution A G missense_variant E84G 251A>G BRCA-US 12 121017626 121017626 single base substitution C A downstream_gene_variant BRCA-US 12 121017676 121017676 single base substitution C A downstream_gene_variant BRCA-US 12 121018862 121018862 single base substitution C T downstream_gene_variant BRCA-US 12 121018957 121018957 single base substitution C A downstream_gene_variant BTCA-JP 12 120966898 120966898 single base substitution C A upstream_gene_variant BTCA-JP 12 120972516 120972516 single base substitution G A 5_prime_UTR_variant BTCA-JP 12 120972516 120972516 single base substitution G A upstream_gene_variant BTCA-JP 12 120990234 120990234 single base substitution T C intron_variant BTCA-JP 12 120990234 120990234 single base substitution T C upstream_gene_variant BTCA-JP 12 120995242 120995242 single base substitution G A 3_prime_UTR_variant BTCA-JP 12 120995242 120995242 single base substitution G A downstream_gene_variant BTCA-JP 12 120995242 120995242 single base substitution G A intron_variant BTCA-JP 12 120995242 120995242 single base substitution G A missense_variant S268N 803G>A BTCA-JP 12 120995242 120995242 single base substitution G A missense_variant S65N 194G>A BTCA-JP 12 120995242 120995242 single base substitution G A upstream_gene_variant BTCA-JP 12 121004664 121004664 single base substitution A T downstream_gene_variant BTCA-JP 12 121004664 121004664 single base substitution A T exon_variant BTCA-JP 12 121004664 121004664 single base substitution A T intron_variant BTCA-JP 12 121004664 121004664 single base substitution A T missense_variant Q185L 554A>T BTCA-JP 12 121004664 121004664 single base substitution A T missense_variant Q641L 1922A>T BTCA-JP 12 121004664 121004664 single base substitution A T missense_variant Q646L 1937A>T BTCA-JP 12 121004664 121004664 single base substitution A T missense_variant Q89L 266A>T BTCA-JP 12 121004664 121004664 single base substitution A T upstream_gene_variant BTCA-JP 12 121009198 121009198 single base substitution C T downstream_gene_variant BTCA-JP 12 121009198 121009198 single base substitution C T intron_variant BTCA-JP 12 121009198 121009198 single base substitution C T upstream_gene_variant BTCA-JP 12 121013452 121013452 single base substitution G A 3_prime_UTR_variant BTCA-JP 12 121013452 121013452 single base substitution G A downstream_gene_variant BTCA-JP 12 121013452 121013452 single base substitution G A exon_variant BTCA-JP 12 121013452 121013452 single base substitution G A missense_variant A56T 166G>A BTCA-JP 12 121013452 121013452 single base substitution G A missense_variant A721T 2161G>A BTCA-JP 12 121013452 121013452 single base substitution G A missense_variant A726T 2176G>A BTCA-JP 12 121014514 121014514 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 12 121014514 121014514 deletion of <=200bp T - downstream_gene_variant BTCA-JP 12 121014514 121014514 deletion of <=200bp T - exon_variant BTCA-JP 12 121014522 121014522 single base substitution T C 3_prime_UTR_variant BTCA-JP 12 121014522 121014522 single base substitution T C downstream_gene_variant BTCA-JP 12 121014522 121014522 single base substitution T C exon_variant CESC-US 12 120966892 120966892 single base substitution G A upstream_gene_variant CESC-US 12 121000862 121000862 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 12 121000862 121000862 single base substitution C G downstream_gene_variant CESC-US 12 121000862 121000862 single base substitution C G exon_variant CESC-US 12 121000862 121000862 single base substitution C G intron_variant CESC-US 12 121000862 121000862 single base substitution C G missense_variant Q415E 1243C>G CESC-US 12 121000862 121000862 single base substitution C G missense_variant Q92E 274C>G CESC-US 12 121000862 121000862 single base substitution C G upstream_gene_variant CESC-US 12 121014518 121014518 single base substitution T G 3_prime_UTR_variant CESC-US 12 121014518 121014518 single base substitution T G downstream_gene_variant CESC-US 12 121014518 121014518 single base substitution T G exon_variant CLLE-ES 12 120974270 120974270 single base substitution A G downstream_gene_variant CLLE-ES 12 120974270 120974270 single base substitution A G intron_variant CLLE-ES 12 120978397 120978397 single base substitution T G intron_variant CLLE-ES 12 120980309 120980309 single base substitution G A intron_variant CLLE-ES 12 120980309 120980309 single base substitution G A upstream_gene_variant CLLE-ES 12 120997956 120997956 single base substitution T G downstream_gene_variant CLLE-ES 12 120997956 120997956 single base substitution T G intron_variant CLLE-ES 12 120997956 120997956 single base substitution T G upstream_gene_variant COAD-US 12 120966921 120966921 single base substitution A G upstream_gene_variant COAD-US 12 120984382 120984382 single base substitution T C 3_prime_UTR_variant COAD-US 12 120984382 120984382 single base substitution T C exon_variant COAD-US 12 120984382 120984382 single base substitution T C intron_variant COAD-US 12 120984382 120984382 single base substitution T C missense_variant F111S 332T>C COAD-US 12 120984382 120984382 single base substitution T C missense_variant F61S 182T>C COAD-US 12 120998588 120998588 single base substitution C T downstream_gene_variant COAD-US 12 120998588 120998588 single base substitution C T exon_variant COAD-US 12 120998588 120998588 single base substitution C T intron_variant COAD-US 12 120998588 120998588 single base substitution C T missense_variant R140W 418C>T COAD-US 12 120998588 120998588 single base substitution C T missense_variant R20W 58C>T COAD-US 12 120998588 120998588 single base substitution C T missense_variant R343W 1027C>T COAD-US 12 120998588 120998588 single base substitution C T upstream_gene_variant COAD-US 12 121001676 121001676 single base substitution G A 5_prime_UTR_variant COAD-US 12 121001676 121001676 single base substitution G A downstream_gene_variant COAD-US 12 121001676 121001676 single base substitution G A exon_variant COAD-US 12 121001676 121001676 single base substitution G A missense_variant G532D 1595G>A COAD-US 12 121001676 121001676 single base substitution G A missense_variant G537D 1610G>A COAD-US 12 121001676 121001676 single base substitution G A missense_variant G76D 227G>A COAD-US 12 121001676 121001676 single base substitution G A upstream_gene_variant COAD-US 12 121002888 121002888 single base substitution G A downstream_gene_variant COAD-US 12 121002888 121002888 single base substitution G A exon_variant COAD-US 12 121002888 121002888 single base substitution G A missense_variant R104H 311G>A COAD-US 12 121002888 121002888 single base substitution G A missense_variant R560H 1679G>A COAD-US 12 121002888 121002888 single base substitution G A missense_variant R565H 1694G>A COAD-US 12 121002888 121002888 single base substitution G A missense_variant R8H 23G>A COAD-US 12 121002888 121002888 single base substitution G A upstream_gene_variant COAD-US 12 121003293 121003293 single base substitution C T downstream_gene_variant COAD-US 12 121003293 121003293 single base substitution C T exon_variant COAD-US 12 121003293 121003293 single base substitution C T missense_variant R160C 478C>T COAD-US 12 121003293 121003293 single base substitution C T missense_variant R3C 7C>T COAD-US 12 121003293 121003293 single base substitution C T missense_variant R616C 1846C>T COAD-US 12 121003293 121003293 single base substitution C T missense_variant R621C 1861C>T COAD-US 12 121003293 121003293 single base substitution C T missense_variant R64C 190C>T COAD-US 12 121003293 121003293 single base substitution C T upstream_gene_variant COAD-US 12 121013685 121013685 single base substitution C T 3_prime_UTR_variant COAD-US 12 121013685 121013685 single base substitution C T downstream_gene_variant COAD-US 12 121013685 121013685 single base substitution C T exon_variant COAD-US 12 121013685 121013685 single base substitution C T missense_variant S764F 2291C>T COAD-US 12 121013685 121013685 single base substitution C T missense_variant S769F 2306C>T COAD-US 12 121013685 121013685 single base substitution C T missense_variant S99F 296C>T COCA-CN 12 120966809 120966809 single base substitution C A upstream_gene_variant COCA-CN 12 120972498 120972498 single base substitution C A 5_prime_UTR_variant COCA-CN 12 120972498 120972498 single base substitution C A upstream_gene_variant COCA-CN 12 120977179 120977179 single base substitution A C 5_prime_UTR_variant COCA-CN 12 120977179 120977179 single base substitution A C downstream_gene_variant COCA-CN 12 120977179 120977179 single base substitution A C exon_variant COCA-CN 12 120977179 120977179 single base substitution A C intron_variant COCA-CN 12 120977179 120977179 single base substitution A C missense_variant I56L 166A>C COCA-CN 12 120994916 120994916 single base substitution T C downstream_gene_variant COCA-CN 12 120994916 120994916 single base substitution T C intron_variant COCA-CN 12 120994916 120994916 single base substitution T C upstream_gene_variant COCA-CN 12 120995396 120995396 single base substitution C T 3_prime_UTR_variant COCA-CN 12 120995396 120995396 single base substitution C T downstream_gene_variant COCA-CN 12 120995396 120995396 single base substitution C T exon_variant COCA-CN 12 120995396 120995396 single base substitution C T intron_variant COCA-CN 12 120995396 120995396 single base substitution C T missense_variant T293M 878C>T COCA-CN 12 120995396 120995396 single base substitution C T missense_variant T90M 269C>T COCA-CN 12 120995396 120995396 single base substitution C T upstream_gene_variant COCA-CN 12 120996870 120996870 single base substitution T A downstream_gene_variant COCA-CN 12 120996870 120996870 single base substitution T A intron_variant COCA-CN 12 120996870 120996870 single base substitution T A upstream_gene_variant COCA-CN 12 121001176 121001176 single base substitution C T downstream_gene_variant COCA-CN 12 121001176 121001176 single base substitution C T exon_variant COCA-CN 12 121001176 121001176 single base substitution C T intron_variant COCA-CN 12 121001176 121001176 single base substitution C T synonymous_variant F109F 327C>T COCA-CN 12 121001176 121001176 single base substitution C T synonymous_variant F182F 546C>T COCA-CN 12 121001176 121001176 single base substitution C T synonymous_variant F427F 1281C>T COCA-CN 12 121001176 121001176 single base substitution C T synonymous_variant F432F 1296C>T COCA-CN 12 121001176 121001176 single base substitution C T upstream_gene_variant COCA-CN 12 121009198 121009198 single base substitution C T downstream_gene_variant COCA-CN 12 121009198 121009198 single base substitution C T intron_variant COCA-CN 12 121009198 121009198 single base substitution C T upstream_gene_variant COCA-CN 12 121013297 121013297 single base substitution A G downstream_gene_variant COCA-CN 12 121013297 121013297 single base substitution A G exon_variant COCA-CN 12 121013297 121013297 single base substitution A G intron_variant COCA-CN 12 121013297 121013297 single base substitution A G upstream_gene_variant COCA-CN 12 121014990 121014990 single base substitution T G 3_prime_UTR_variant COCA-CN 12 121014990 121014990 single base substitution T G downstream_gene_variant COCA-CN 12 121014990 121014990 single base substitution T G exon_variant EOPC-DE 12 120966881 120966881 single base substitution G T upstream_gene_variant ESAD-UK 12 120967844 120967844 single base substitution C T upstream_gene_variant ESAD-UK 12 120968395 120968395 insertion of <=200bp - AAAG upstream_gene_variant ESAD-UK 12 120973492 120973494 deletion of <=200bp TTG - downstream_gene_variant ESAD-UK 12 120973492 120973494 deletion of <=200bp TTG - intron_variant ESAD-UK 12 120974268 120974268 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 120974268 120974268 insertion of <=200bp - A intron_variant ESAD-UK 12 120975388 120975388 single base substitution A G downstream_gene_variant ESAD-UK 12 120975388 120975388 single base substitution A G intron_variant ESAD-UK 12 120977381 120977381 single base substitution T G downstream_gene_variant ESAD-UK 12 120977381 120977381 single base substitution T G intron_variant ESAD-UK 12 120977387 120977387 single base substitution G A downstream_gene_variant ESAD-UK 12 120977387 120977387 single base substitution G A intron_variant ESAD-UK 12 120978385 120978385 single base substitution C T intron_variant ESAD-UK 12 120982484 120982499 deletion of <=200bp TATTATGTTGTTAGAG - intron_variant ESAD-UK 12 120982484 120982499 deletion of <=200bp TATTATGTTGTTAGAG - upstream_gene_variant ESAD-UK 12 120984781 120984781 deletion of <=200bp T - intron_variant ESAD-UK 12 120985886 120985886 single base substitution G A intron_variant ESAD-UK 12 120988279 120988279 single base substitution C T intron_variant ESAD-UK 12 120988279 120988279 single base substitution C T upstream_gene_variant ESAD-UK 12 120990144 120990144 single base substitution A T intron_variant ESAD-UK 12 120990144 120990144 single base substitution A T upstream_gene_variant ESAD-UK 12 120990230 120990230 deletion of <=200bp T - intron_variant ESAD-UK 12 120990230 120990230 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 120990371 120990371 single base substitution C G 3_prime_UTR_variant ESAD-UK 12 120990371 120990371 single base substitution C G exon_variant ESAD-UK 12 120990371 120990371 single base substitution C G intron_variant ESAD-UK 12 120990371 120990371 single base substitution C G missense_variant H142D 424C>G ESAD-UK 12 120990371 120990371 single base substitution C G missense_variant H92D 274C>G ESAD-UK 12 120990371 120990371 single base substitution C G upstream_gene_variant ESAD-UK 12 120996382 120996382 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 120996382 120996382 insertion of <=200bp - A intron_variant ESAD-UK 12 120996382 120996382 insertion of <=200bp - A upstream_gene_variant ESAD-UK 12 120996382 120996382 single base substitution T A downstream_gene_variant ESAD-UK 12 120996382 120996382 single base substitution T A intron_variant ESAD-UK 12 120996382 120996382 single base substitution T A upstream_gene_variant ESAD-UK 12 120996383 120996383 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 120996383 120996383 insertion of <=200bp - A intron_variant ESAD-UK 12 120996383 120996383 insertion of <=200bp - A upstream_gene_variant ESAD-UK 12 120996640 120996640 single base substitution T C downstream_gene_variant ESAD-UK 12 120996640 120996640 single base substitution T C intron_variant ESAD-UK 12 120996640 120996640 single base substitution T C upstream_gene_variant ESAD-UK 12 120997433 120997433 single base substitution A C downstream_gene_variant ESAD-UK 12 120997433 120997433 single base substitution A C intron_variant ESAD-UK 12 120997433 120997433 single base substitution A C upstream_gene_variant ESAD-UK 12 121000355 121000355 single base substitution G C downstream_gene_variant ESAD-UK 12 121000355 121000355 single base substitution G C intron_variant ESAD-UK 12 121000355 121000355 single base substitution G C upstream_gene_variant ESAD-UK 12 121005632 121005632 single base substitution C T downstream_gene_variant ESAD-UK 12 121005632 121005632 single base substitution C T intron_variant ESAD-UK 12 121005632 121005632 single base substitution C T upstream_gene_variant ESAD-UK 12 121010389 121010393 deletion of <=200bp TTGTT - intron_variant ESAD-UK 12 121010389 121010393 deletion of <=200bp TTGTT - upstream_gene_variant ESAD-UK 12 121010667 121010667 single base substitution G A intron_variant ESAD-UK 12 121010667 121010667 single base substitution G A upstream_gene_variant ESAD-UK 12 121011719 121011719 single base substitution A G intron_variant ESAD-UK 12 121011719 121011719 single base substitution A G upstream_gene_variant ESAD-UK 12 121012178 121012178 single base substitution G A intron_variant ESAD-UK 12 121012178 121012178 single base substitution G A upstream_gene_variant ESAD-UK 12 121016127 121016127 single base substitution G A downstream_gene_variant ESAD-UK 12 121016749 121016749 single base substitution G C downstream_gene_variant ESAD-UK 12 121017230 121017230 single base substitution T G downstream_gene_variant ESAD-UK 12 121018204 121018204 single base substitution C T downstream_gene_variant ESCA-CN 12 120966821 120966821 single base substitution G T upstream_gene_variant ESCA-CN 12 120990449 120990449 single base substitution A G 3_prime_UTR_variant ESCA-CN 12 120990449 120990449 single base substitution A G exon_variant ESCA-CN 12 120990449 120990449 single base substitution A G intron_variant ESCA-CN 12 120990449 120990449 single base substitution A G missense_variant R118G 352A>G ESCA-CN 12 120990449 120990449 single base substitution A G missense_variant R168G 502A>G ESCA-CN 12 120990449 120990449 single base substitution A G upstream_gene_variant ESCA-CN 12 121013461 121013461 single base substitution G C 3_prime_UTR_variant ESCA-CN 12 121013461 121013461 single base substitution G C downstream_gene_variant ESCA-CN 12 121013461 121013461 single base substitution G C exon_variant ESCA-CN 12 121013461 121013461 single base substitution G C missense_variant D59H 175G>C ESCA-CN 12 121013461 121013461 single base substitution G C missense_variant D724H 2170G>C ESCA-CN 12 121013461 121013461 single base substitution G C missense_variant D729H 2185G>C ESCA-CN 12 121014442 121014442 single base substitution C G 3_prime_UTR_variant ESCA-CN 12 121014442 121014442 single base substitution C G downstream_gene_variant ESCA-CN 12 121014442 121014442 single base substitution C G exon_variant ESCA-CN 12 121014442 121014442 single base substitution C G missense_variant F138L 414C>G ESCA-CN 12 121014442 121014442 single base substitution C G missense_variant F803L 2409C>G ESCA-CN 12 121014442 121014442 single base substitution C G missense_variant F808L 2424C>G KIRC-US 12 120966769 120966769 single base substitution A T upstream_gene_variant KIRC-US 12 120995400 120995400 single base substitution G T 3_prime_UTR_variant KIRC-US 12 120995400 120995400 single base substitution G T downstream_gene_variant KIRC-US 12 120995400 120995400 single base substitution G T exon_variant KIRC-US 12 120995400 120995400 single base substitution G T intron_variant KIRC-US 12 120995400 120995400 single base substitution G T missense_variant M294I 882G>T KIRC-US 12 120995400 120995400 single base substitution G T missense_variant M91I 273G>T KIRC-US 12 120995400 120995400 single base substitution G T upstream_gene_variant KIRC-US 12 121002894 121002894 single base substitution G T downstream_gene_variant KIRC-US 12 121002894 121002894 single base substitution G T exon_variant KIRC-US 12 121002894 121002894 single base substitution G T missense_variant R106I 317G>T KIRC-US 12 121002894 121002894 single base substitution G T missense_variant R10I 29G>T KIRC-US 12 121002894 121002894 single base substitution G T missense_variant R562I 1685G>T KIRC-US 12 121002894 121002894 single base substitution G T missense_variant R567I 1700G>T KIRC-US 12 121002894 121002894 single base substitution G T upstream_gene_variant KIRC-US 12 121004766 121004766 single base substitution G C downstream_gene_variant KIRC-US 12 121004766 121004766 single base substitution G C exon_variant KIRC-US 12 121004766 121004766 single base substitution G C intron_variant KIRC-US 12 121004766 121004766 single base substitution G C missense_variant S675T 2024G>C KIRC-US 12 121004766 121004766 single base substitution G C missense_variant S680T 2039G>C KIRC-US 12 121004766 121004766 single base substitution G C upstream_gene_variant KIRC-US 12 121013684 121013684 single base substitution T C 3_prime_UTR_variant KIRC-US 12 121013684 121013684 single base substitution T C downstream_gene_variant KIRC-US 12 121013684 121013684 single base substitution T C exon_variant KIRC-US 12 121013684 121013684 single base substitution T C missense_variant S764P 2290T>C KIRC-US 12 121013684 121013684 single base substitution T C missense_variant S769P 2305T>C KIRC-US 12 121013684 121013684 single base substitution T C missense_variant S99P 295T>C KIRP-US 12 120984362 120984362 single base substitution C A 3_prime_UTR_variant KIRP-US 12 120984362 120984362 single base substitution C A exon_variant KIRP-US 12 120984362 120984362 single base substitution C A intron_variant KIRP-US 12 120984362 120984362 single base substitution C A missense_variant S104R 312C>A KIRP-US 12 120984362 120984362 single base substitution C A missense_variant S54R 162C>A LAML-KR 12 120983144 120983144 single base substitution C G intron_variant LAML-KR 12 120983144 120983144 single base substitution C G upstream_gene_variant LAML-KR 12 120993354 120993354 single base substitution A G downstream_gene_variant LAML-KR 12 120993354 120993354 single base substitution A G intron_variant LAML-KR 12 120993354 120993354 single base substitution A G upstream_gene_variant LAML-KR 12 120993371 120993371 single base substitution A G downstream_gene_variant LAML-KR 12 120993371 120993371 single base substitution A G intron_variant LAML-KR 12 120993371 120993371 single base substitution A G upstream_gene_variant LGG-US 12 120966932 120966932 single base substitution C A upstream_gene_variant LGG-US 12 121000755 121000755 single base substitution A G 5_prime_UTR_variant LGG-US 12 121000755 121000755 single base substitution A G exon_variant LGG-US 12 121000755 121000755 single base substitution A G intron_variant LGG-US 12 121000755 121000755 single base substitution A G missense_variant E109G 326A>G LGG-US 12 121000755 121000755 single base substitution A G missense_variant E379G 1136A>G LGG-US 12 121000755 121000755 single base substitution A G missense_variant E56G 167A>G LGG-US 12 121000755 121000755 single base substitution A G upstream_gene_variant LICA-CN 12 121001339 121001339 single base substitution A T 5_prime_UTR_variant LICA-CN 12 121001339 121001339 single base substitution A T downstream_gene_variant LICA-CN 12 121001339 121001339 single base substitution A T exon_variant LICA-CN 12 121001339 121001339 single base substitution A T missense_variant I28F 82A>T LICA-CN 12 121001339 121001339 single base substitution A T missense_variant I482F 1444A>T LICA-CN 12 121001339 121001339 single base substitution A T missense_variant I487F 1459A>T LICA-CN 12 121001339 121001339 single base substitution A T upstream_gene_variant LICA-FR 12 120970189 120970189 single base substitution G A upstream_gene_variant LICA-FR 12 120989817 120989817 deletion of <=200bp T - intron_variant LICA-FR 12 120989817 120989817 deletion of <=200bp T - upstream_gene_variant LICA-FR 12 120991399 120991399 single base substitution T C downstream_gene_variant LICA-FR 12 120991399 120991399 single base substitution T C intron_variant LICA-FR 12 120991399 120991399 single base substitution T C upstream_gene_variant LICA-FR 12 121000822 121000822 single base substitution A G 5_prime_UTR_variant LICA-FR 12 121000822 121000822 single base substitution A G downstream_gene_variant LICA-FR 12 121000822 121000822 single base substitution A G exon_variant LICA-FR 12 121000822 121000822 single base substitution A G intron_variant LICA-FR 12 121000822 121000822 single base substitution A G synonymous_variant Q401Q 1203A>G LICA-FR 12 121000822 121000822 single base substitution A G synonymous_variant Q78Q 234A>G LICA-FR 12 121000822 121000822 single base substitution A G upstream_gene_variant LICA-FR 12 121005504 121005506 deletion of <=200bp AAA - downstream_gene_variant LICA-FR 12 121005504 121005506 deletion of <=200bp AAA - intron_variant LICA-FR 12 121005504 121005506 deletion of <=200bp AAA - upstream_gene_variant LICA-FR 12 121017386 121017386 single base substitution A G downstream_gene_variant LIHC-US 12 121013648 121013648 single base substitution A T 3_prime_UTR_variant LIHC-US 12 121013648 121013648 single base substitution A T downstream_gene_variant LIHC-US 12 121013648 121013648 single base substitution A T exon_variant LIHC-US 12 121013648 121013648 single base substitution A T missense_variant N752Y 2254A>T LIHC-US 12 121013648 121013648 single base substitution A T missense_variant N757Y 2269A>T LIHC-US 12 121013648 121013648 single base substitution A T missense_variant N87Y 259A>T LINC-JP 12 120968022 120968022 deletion of <=200bp A - upstream_gene_variant LINC-JP 12 120968927 120968927 single base substitution A G upstream_gene_variant LINC-JP 12 120969285 120969285 single base substitution G A upstream_gene_variant LINC-JP 12 120980804 120980821 deletion of <=200bp TTTGGAGAGAATGACATC - intron_variant LINC-JP 12 120980804 120980821 deletion of <=200bp TTTGGAGAGAATGACATC - upstream_gene_variant LINC-JP 12 120990912 120990912 single base substitution A T downstream_gene_variant LINC-JP 12 120990912 120990912 single base substitution A T intron_variant LINC-JP 12 120990912 120990912 single base substitution A T upstream_gene_variant LINC-JP 12 120994887 120994887 single base substitution T C downstream_gene_variant LINC-JP 12 120994887 120994887 single base substitution T C intron_variant LINC-JP 12 120994887 120994887 single base substitution T C upstream_gene_variant LINC-JP 12 120997003 120997003 single base substitution G T downstream_gene_variant LINC-JP 12 120997003 120997003 single base substitution G T intron_variant LINC-JP 12 120997003 120997003 single base substitution G T upstream_gene_variant LINC-JP 12 121000903 121000903 single base substitution C T downstream_gene_variant LINC-JP 12 121000903 121000903 single base substitution C T exon_variant LINC-JP 12 121000903 121000903 single base substitution C T intron_variant LINC-JP 12 121000903 121000903 single base substitution C T upstream_gene_variant LINC-JP 12 121008871 121008871 deletion of <=200bp T - downstream_gene_variant LINC-JP 12 121008871 121008871 deletion of <=200bp T - intron_variant LINC-JP 12 121008871 121008871 deletion of <=200bp T - upstream_gene_variant LINC-JP 12 121008916 121008916 single base substitution C G downstream_gene_variant LINC-JP 12 121008916 121008916 single base substitution C G intron_variant LINC-JP 12 121008916 121008916 single base substitution C G upstream_gene_variant LINC-JP 12 121013452 121013452 single base substitution G A 3_prime_UTR_variant LINC-JP 12 121013452 121013452 single base substitution G A downstream_gene_variant LINC-JP 12 121013452 121013452 single base substitution G A exon_variant LINC-JP 12 121013452 121013452 single base substitution G A missense_variant A56T 166G>A LINC-JP 12 121013452 121013452 single base substitution G A missense_variant A721T 2161G>A LINC-JP 12 121013452 121013452 single base substitution G A missense_variant A726T 2176G>A LINC-JP 12 121013505 121013505 single base substitution A G downstream_gene_variant LINC-JP 12 121013505 121013505 single base substitution A G intron_variant LINC-JP 12 121014988 121014988 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 12 121014988 121014988 deletion of <=200bp T - downstream_gene_variant LINC-JP 12 121014988 121014988 deletion of <=200bp T - exon_variant LINC-JP 12 121017156 121017156 insertion of <=200bp - C downstream_gene_variant LINC-JP 12 121017673 121017673 single base substitution A C downstream_gene_variant LIRI-JP 12 120967490 120967490 single base substitution G T upstream_gene_variant LIRI-JP 12 120968246 120968246 single base substitution A G upstream_gene_variant LIRI-JP 12 120969238 120969238 single base substitution T C upstream_gene_variant LIRI-JP 12 120969341 120969341 single base substitution A G upstream_gene_variant LIRI-JP 12 120969528 120969528 single base substitution T A upstream_gene_variant LIRI-JP 12 120970841 120970841 single base substitution C A upstream_gene_variant LIRI-JP 12 120972501 120972501 insertion of <=200bp - T 5_prime_UTR_variant LIRI-JP 12 120972501 120972501 insertion of <=200bp - T upstream_gene_variant LIRI-JP 12 120972773 120972773 single base substitution T C downstream_gene_variant LIRI-JP 12 120972773 120972773 single base substitution T C splice_donor_variant LIRI-JP 12 120972773 120972773 single base substitution T C upstream_gene_variant LIRI-JP 12 120973535 120973535 insertion of <=200bp - T downstream_gene_variant LIRI-JP 12 120973535 120973535 insertion of <=200bp - T intron_variant LIRI-JP 12 120974143 120974143 single base substitution C T downstream_gene_variant LIRI-JP 12 120974143 120974143 single base substitution C T intron_variant LIRI-JP 12 120974929 120974929 single base substitution A T downstream_gene_variant LIRI-JP 12 120974929 120974929 single base substitution A T intron_variant LIRI-JP 12 120975905 120975905 single base substitution A G downstream_gene_variant LIRI-JP 12 120975905 120975905 single base substitution A G intron_variant LIRI-JP 12 120976864 120976864 single base substitution T C downstream_gene_variant LIRI-JP 12 120976864 120976864 single base substitution T C intron_variant LIRI-JP 12 120977108 120977108 single base substitution A G downstream_gene_variant LIRI-JP 12 120977108 120977108 single base substitution A G intron_variant LIRI-JP 12 120977402 120977402 single base substitution A G downstream_gene_variant LIRI-JP 12 120977402 120977402 single base substitution A G intron_variant LIRI-JP 12 120977949 120977949 single base substitution G A intron_variant LIRI-JP 12 120981350 120981350 single base substitution A G intron_variant LIRI-JP 12 120981350 120981350 single base substitution A G upstream_gene_variant LIRI-JP 12 120982456 120982456 single base substitution C T intron_variant LIRI-JP 12 120982456 120982456 single base substitution C T upstream_gene_variant LIRI-JP 12 120983237 120983237 single base substitution C T intron_variant LIRI-JP 12 120983237 120983237 single base substitution C T upstream_gene_variant LIRI-JP 12 120983716 120983716 single base substitution C A intron_variant LIRI-JP 12 120983716 120983716 single base substitution C A upstream_gene_variant LIRI-JP 12 120984937 120984937 single base substitution A G intron_variant LIRI-JP 12 120987287 120987287 single base substitution A G intron_variant LIRI-JP 12 120987287 120987287 single base substitution A G upstream_gene_variant LIRI-JP 12 120987637 120987637 single base substitution A G intron_variant LIRI-JP 12 120987637 120987637 single base substitution A G upstream_gene_variant LIRI-JP 12 120987983 120987983 single base substitution T C intron_variant LIRI-JP 12 120987983 120987983 single base substitution T C upstream_gene_variant LIRI-JP 12 120988024 120988024 single base substitution A G intron_variant LIRI-JP 12 120988024 120988024 single base substitution A G upstream_gene_variant LIRI-JP 12 120988293 120988293 single base substitution G T intron_variant LIRI-JP 12 120988293 120988293 single base substitution G T upstream_gene_variant LIRI-JP 12 120992244 120992244 single base substitution C A downstream_gene_variant LIRI-JP 12 120992244 120992244 single base substitution C A exon_variant LIRI-JP 12 120992244 120992244 single base substitution C A intron_variant LIRI-JP 12 120992244 120992244 single base substitution C A upstream_gene_variant LIRI-JP 12 120992895 120992895 single base substitution G C downstream_gene_variant LIRI-JP 12 120992895 120992895 single base substitution G C intron_variant LIRI-JP 12 120992895 120992895 single base substitution G C upstream_gene_variant LIRI-JP 12 120995680 120995680 single base substitution A G downstream_gene_variant LIRI-JP 12 120995680 120995680 single base substitution A G intron_variant LIRI-JP 12 120995680 120995680 single base substitution A G upstream_gene_variant LIRI-JP 12 120995766 120995766 single base substitution C G downstream_gene_variant LIRI-JP 12 120995766 120995766 single base substitution C G intron_variant LIRI-JP 12 120995766 120995766 single base substitution C G upstream_gene_variant LIRI-JP 12 120997700 120997700 single base substitution A G downstream_gene_variant LIRI-JP 12 120997700 120997700 single base substitution A G intron_variant LIRI-JP 12 120997700 120997700 single base substitution A G upstream_gene_variant LIRI-JP 12 120998468 120998468 single base substitution T G downstream_gene_variant LIRI-JP 12 120998468 120998468 single base substitution T G intron_variant LIRI-JP 12 120998468 120998468 single base substitution T G upstream_gene_variant LIRI-JP 12 121000778 121000778 single base substitution G A 5_prime_UTR_variant LIRI-JP 12 121000778 121000778 single base substitution G A exon_variant LIRI-JP 12 121000778 121000778 single base substitution G A intron_variant LIRI-JP 12 121000778 121000778 single base substitution G A missense_variant G117R 349G>A LIRI-JP 12 121000778 121000778 single base substitution G A missense_variant G387R 1159G>A LIRI-JP 12 121000778 121000778 single base substitution G A missense_variant G64R 190G>A LIRI-JP 12 121000778 121000778 single base substitution G A upstream_gene_variant LIRI-JP 12 121002635 121002635 single base substitution T G downstream_gene_variant LIRI-JP 12 121002635 121002635 single base substitution T G intron_variant LIRI-JP 12 121002635 121002635 single base substitution T G upstream_gene_variant LIRI-JP 12 121003099 121003099 single base substitution T C downstream_gene_variant LIRI-JP 12 121003099 121003099 single base substitution T C intron_variant LIRI-JP 12 121003099 121003099 single base substitution T C upstream_gene_variant LIRI-JP 12 121004020 121004020 deletion of <=200bp A - downstream_gene_variant LIRI-JP 12 121004020 121004020 deletion of <=200bp A - intron_variant LIRI-JP 12 121004020 121004020 deletion of <=200bp A - upstream_gene_variant LIRI-JP 12 121005177 121005177 single base substitution A G downstream_gene_variant LIRI-JP 12 121005177 121005177 single base substitution A G intron_variant LIRI-JP 12 121005177 121005177 single base substitution A G upstream_gene_variant LIRI-JP 12 121005801 121005801 single base substitution C T downstream_gene_variant LIRI-JP 12 121005801 121005801 single base substitution C T intron_variant LIRI-JP 12 121005801 121005801 single base substitution C T upstream_gene_variant LIRI-JP 12 121006175 121006175 single base substitution A G downstream_gene_variant LIRI-JP 12 121006175 121006175 single base substitution A G intron_variant LIRI-JP 12 121006175 121006175 single base substitution A G upstream_gene_variant LIRI-JP 12 121006592 121006592 single base substitution G T downstream_gene_variant LIRI-JP 12 121006592 121006592 single base substitution G T intron_variant LIRI-JP 12 121006592 121006592 single base substitution G T upstream_gene_variant LIRI-JP 12 121007508 121007508 single base substitution T C downstream_gene_variant LIRI-JP 12 121007508 121007508 single base substitution T C intron_variant LIRI-JP 12 121007508 121007508 single base substitution T C upstream_gene_variant LIRI-JP 12 121008648 121008648 single base substitution A G downstream_gene_variant LIRI-JP 12 121008648 121008648 single base substitution A G intron_variant LIRI-JP 12 121008648 121008648 single base substitution A G upstream_gene_variant LIRI-JP 12 121009536 121009536 deletion of <=200bp T - downstream_gene_variant LIRI-JP 12 121009536 121009536 deletion of <=200bp T - intron_variant LIRI-JP 12 121009536 121009536 deletion of <=200bp T - upstream_gene_variant LIRI-JP 12 121011013 121011013 single base substitution C A intron_variant LIRI-JP 12 121011013 121011013 single base substitution C A upstream_gene_variant LIRI-JP 12 121013632 121013632 single base substitution C T 3_prime_UTR_variant LIRI-JP 12 121013632 121013632 single base substitution C T downstream_gene_variant LIRI-JP 12 121013632 121013632 single base substitution C T exon_variant LIRI-JP 12 121013632 121013632 single base substitution C T synonymous_variant S746S 2238C>T LIRI-JP 12 121013632 121013632 single base substitution C T synonymous_variant S751S 2253C>T LIRI-JP 12 121013632 121013632 single base substitution C T synonymous_variant S81S 243C>T LIRI-JP 12 121015354 121015354 single base substitution C T 3_prime_UTR_variant LIRI-JP 12 121015354 121015354 single base substitution C T downstream_gene_variant LIRI-JP 12 121015640 121015640 single base substitution T G downstream_gene_variant LIRI-JP 12 121015867 121015872 deletion of <=200bp CATGAC - downstream_gene_variant LIRI-JP 12 121016227 121016227 single base substitution G A downstream_gene_variant LIRI-JP 12 121016362 121016362 single base substitution A C downstream_gene_variant LUSC-KR 12 120966710 120966710 single base substitution G A upstream_gene_variant LUSC-KR 12 120966881 120966881 single base substitution G A upstream_gene_variant LUSC-KR 12 120966882 120966882 single base substitution C T upstream_gene_variant LUSC-KR 12 120969141 120969141 single base substitution G C upstream_gene_variant LUSC-KR 12 120979174 120979174 single base substitution A G intron_variant LUSC-KR 12 120983979 120983979 single base substitution C T intron_variant LUSC-KR 12 120983979 120983979 single base substitution C T upstream_gene_variant LUSC-KR 12 120984921 120984921 single base substitution A G intron_variant LUSC-KR 12 120990646 120990646 single base substitution C G downstream_gene_variant LUSC-KR 12 120990646 120990646 single base substitution C G intron_variant LUSC-KR 12 120990646 120990646 single base substitution C G upstream_gene_variant LUSC-KR 12 120998728 120998728 single base substitution T C downstream_gene_variant LUSC-KR 12 120998728 120998728 single base substitution T C intron_variant LUSC-KR 12 120998728 120998728 single base substitution T C upstream_gene_variant LUSC-KR 12 120999322 120999322 single base substitution C G downstream_gene_variant LUSC-KR 12 120999322 120999322 single base substitution C G intron_variant LUSC-KR 12 120999322 120999322 single base substitution C G upstream_gene_variant LUSC-KR 12 121000362 121000362 single base substitution C G downstream_gene_variant LUSC-KR 12 121000362 121000362 single base substitution C G intron_variant LUSC-KR 12 121000362 121000362 single base substitution C G upstream_gene_variant LUSC-KR 12 121000635 121000635 single base substitution C T intron_variant LUSC-KR 12 121000635 121000635 single base substitution C T upstream_gene_variant LUSC-KR 12 121000931 121000931 single base substitution G T downstream_gene_variant LUSC-KR 12 121000931 121000931 single base substitution G T exon_variant LUSC-KR 12 121000931 121000931 single base substitution G T intron_variant LUSC-KR 12 121000931 121000931 single base substitution G T upstream_gene_variant LUSC-KR 12 121000933 121000933 single base substitution A T downstream_gene_variant LUSC-KR 12 121000933 121000933 single base substitution A T exon_variant LUSC-KR 12 121000933 121000933 single base substitution A T intron_variant LUSC-KR 12 121000933 121000933 single base substitution A T upstream_gene_variant LUSC-KR 12 121008548 121008548 single base substitution C T downstream_gene_variant LUSC-KR 12 121008548 121008548 single base substitution C T intron_variant LUSC-KR 12 121008548 121008548 single base substitution C T upstream_gene_variant LUSC-KR 12 121014917 121014917 single base substitution A G 3_prime_UTR_variant LUSC-KR 12 121014917 121014917 single base substitution A G downstream_gene_variant LUSC-KR 12 121014917 121014917 single base substitution A G exon_variant LUSC-US 12 120966933 120966933 single base substitution G A upstream_gene_variant LUSC-US 12 120972765 120972765 single base substitution A C downstream_gene_variant LUSC-US 12 120972765 120972765 single base substitution A C exon_variant LUSC-US 12 120972765 120972765 single base substitution A C missense_variant K51Q 151A>C LUSC-US 12 120972765 120972765 single base substitution A C upstream_gene_variant LUSC-US 12 120995234 120995234 single base substitution C G 3_prime_UTR_variant LUSC-US 12 120995234 120995234 single base substitution C G downstream_gene_variant LUSC-US 12 120995234 120995234 single base substitution C G intron_variant LUSC-US 12 120995234 120995234 single base substitution C G missense_variant I265M 795C>G LUSC-US 12 120995234 120995234 single base substitution C G missense_variant I62M 186C>G LUSC-US 12 120995234 120995234 single base substitution C G upstream_gene_variant LUSC-US 12 121001268 121001268 single base substitution C G 5_prime_UTR_variant LUSC-US 12 121001268 121001268 single base substitution C G downstream_gene_variant LUSC-US 12 121001268 121001268 single base substitution C G exon_variant LUSC-US 12 121001268 121001268 single base substitution C G missense_variant P458R 1373C>G LUSC-US 12 121001268 121001268 single base substitution C G missense_variant P463R 1388C>G LUSC-US 12 121001268 121001268 single base substitution C G missense_variant P4R 11C>G LUSC-US 12 121001268 121001268 single base substitution C G upstream_gene_variant LUSC-US 12 121017127 121017127 single base substitution C A downstream_gene_variant MALY-DE 12 120986865 120986865 single base substitution T G intron_variant MALY-DE 12 120987277 120987277 single base substitution C T intron_variant MALY-DE 12 120987277 120987277 single base substitution C T upstream_gene_variant MALY-DE 12 120988762 120988762 single base substitution G A intron_variant MALY-DE 12 120988762 120988762 single base substitution G A upstream_gene_variant MALY-DE 12 120991867 120991867 single base substitution C T downstream_gene_variant MALY-DE 12 120991867 120991867 single base substitution C T intron_variant MALY-DE 12 120991867 120991867 single base substitution C T upstream_gene_variant MALY-DE 12 120998181 120998181 single base substitution T C downstream_gene_variant MALY-DE 12 120998181 120998181 single base substitution T C intron_variant MALY-DE 12 120998181 120998181 single base substitution T C upstream_gene_variant MALY-DE 12 121002908 121002908 single base substitution T G downstream_gene_variant MALY-DE 12 121002908 121002908 single base substitution T G exon_variant MALY-DE 12 121002908 121002908 single base substitution T G missense_variant L111V 331T>G MALY-DE 12 121002908 121002908 single base substitution T G missense_variant L15V 43T>G MALY-DE 12 121002908 121002908 single base substitution T G missense_variant L567V 1699T>G MALY-DE 12 121002908 121002908 single base substitution T G missense_variant L572V 1714T>G MALY-DE 12 121002908 121002908 single base substitution T G upstream_gene_variant MALY-DE 12 121012044 121012044 single base substitution T C intron_variant MALY-DE 12 121012044 121012044 single base substitution T C upstream_gene_variant MALY-DE 12 121019434 121019434 single base substitution G C downstream_gene_variant MALY-DE 12 121019774 121019774 insertion of <=200bp - T downstream_gene_variant MELA-AU 12 120966856 120966856 single base substitution C A upstream_gene_variant MELA-AU 12 120966934 120966934 single base substitution G A upstream_gene_variant MELA-AU 12 120966968 120966968 single base substitution C T upstream_gene_variant MELA-AU 12 120968114 120968114 single base substitution G A upstream_gene_variant MELA-AU 12 120968146 120968146 single base substitution G A upstream_gene_variant MELA-AU 12 120968648 120968648 single base substitution G A upstream_gene_variant MELA-AU 12 120968686 120968686 single base substitution C T upstream_gene_variant MELA-AU 12 120968738 120968738 single base substitution G A upstream_gene_variant MELA-AU 12 120969321 120969321 single base substitution G A upstream_gene_variant MELA-AU 12 120970118 120970118 single base substitution C T upstream_gene_variant MELA-AU 12 120970634 120970634 single base substitution G A upstream_gene_variant MELA-AU 12 120971546 120971546 single base substitution C T intron_variant MELA-AU 12 120971546 120971546 single base substitution C T upstream_gene_variant MELA-AU 12 120972139 120972140 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 120972139 120972140 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 120973798 120973798 single base substitution T C downstream_gene_variant MELA-AU 12 120973798 120973798 single base substitution T C intron_variant MELA-AU 12 120973884 120973884 single base substitution C T downstream_gene_variant MELA-AU 12 120973884 120973884 single base substitution C T intron_variant MELA-AU 12 120974199 120974199 single base substitution C T downstream_gene_variant MELA-AU 12 120974199 120974199 single base substitution C T intron_variant MELA-AU 12 120974371 120974371 single base substitution C T downstream_gene_variant MELA-AU 12 120974371 120974371 single base substitution C T intron_variant MELA-AU 12 120975070 120975070 single base substitution C T downstream_gene_variant MELA-AU 12 120975070 120975070 single base substitution C T intron_variant MELA-AU 12 120975353 120975353 single base substitution A G downstream_gene_variant MELA-AU 12 120975353 120975353 single base substitution A G intron_variant MELA-AU 12 120976056 120976056 single base substitution C T downstream_gene_variant MELA-AU 12 120976056 120976056 single base substitution C T intron_variant MELA-AU 12 120977094 120977094 single base substitution T A downstream_gene_variant MELA-AU 12 120977094 120977094 single base substitution T A intron_variant MELA-AU 12 120977197 120977197 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 120977197 120977197 single base substitution T A downstream_gene_variant MELA-AU 12 120977197 120977197 single base substitution T A exon_variant MELA-AU 12 120977197 120977197 single base substitution T A intron_variant MELA-AU 12 120977197 120977197 single base substitution T A missense_variant L62M 184T>A MELA-AU 12 120977475 120977475 single base substitution C T downstream_gene_variant MELA-AU 12 120977475 120977475 single base substitution C T intron_variant MELA-AU 12 120977673 120977673 single base substitution C T intron_variant MELA-AU 12 120977702 120977702 single base substitution G A intron_variant MELA-AU 12 120977918 120977918 single base substitution C T intron_variant MELA-AU 12 120978781 120978781 single base substitution C T intron_variant MELA-AU 12 120978813 120978813 single base substitution C T intron_variant MELA-AU 12 120978895 120978895 single base substitution G A intron_variant MELA-AU 12 120979494 120979495 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 120979494 120979495 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 120980875 120980875 single base substitution A C intron_variant MELA-AU 12 120980875 120980875 single base substitution A C upstream_gene_variant MELA-AU 12 120982188 120982188 single base substitution T C intron_variant MELA-AU 12 120982188 120982188 single base substitution T C upstream_gene_variant MELA-AU 12 120982617 120982617 single base substitution C T intron_variant MELA-AU 12 120982617 120982617 single base substitution C T upstream_gene_variant MELA-AU 12 120983087 120983087 single base substitution C T intron_variant MELA-AU 12 120983087 120983087 single base substitution C T upstream_gene_variant MELA-AU 12 120983222 120983222 single base substitution C T intron_variant MELA-AU 12 120983222 120983222 single base substitution C T upstream_gene_variant MELA-AU 12 120983382 120983382 single base substitution C T intron_variant MELA-AU 12 120983382 120983382 single base substitution C T upstream_gene_variant MELA-AU 12 120984355 120984355 single base substitution G A 3_prime_UTR_variant MELA-AU 12 120984355 120984355 single base substitution G A exon_variant MELA-AU 12 120984355 120984355 single base substitution G A intron_variant MELA-AU 12 120984355 120984355 single base substitution G A missense_variant G102D 305G>A MELA-AU 12 120984355 120984355 single base substitution G A missense_variant G52D 155G>A MELA-AU 12 120984546 120984546 single base substitution G C intron_variant MELA-AU 12 120985041 120985041 single base substitution C T intron_variant MELA-AU 12 120985656 120985656 single base substitution T A intron_variant MELA-AU 12 120986862 120986862 single base substitution G A intron_variant MELA-AU 12 120986986 120986987 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 120988395 120988395 single base substitution T A intron_variant MELA-AU 12 120988395 120988395 single base substitution T A upstream_gene_variant MELA-AU 12 120988717 120988717 single base substitution T A intron_variant MELA-AU 12 120988717 120988717 single base substitution T A upstream_gene_variant MELA-AU 12 120989013 120989013 single base substitution T A intron_variant MELA-AU 12 120989013 120989013 single base substitution T A upstream_gene_variant MELA-AU 12 120989015 120989015 single base substitution C T intron_variant MELA-AU 12 120989015 120989015 single base substitution C T upstream_gene_variant MELA-AU 12 120990331 120990331 single base substitution C T 3_prime_UTR_variant MELA-AU 12 120990331 120990331 single base substitution C T exon_variant MELA-AU 12 120990331 120990331 single base substitution C T intron_variant MELA-AU 12 120990331 120990331 single base substitution C T synonymous_variant S128S 384C>T MELA-AU 12 120990331 120990331 single base substitution C T synonymous_variant S78S 234C>T MELA-AU 12 120990331 120990331 single base substitution C T upstream_gene_variant MELA-AU 12 120990371 120990371 single base substitution C T 3_prime_UTR_variant MELA-AU 12 120990371 120990371 single base substitution C T exon_variant MELA-AU 12 120990371 120990371 single base substitution C T intron_variant MELA-AU 12 120990371 120990371 single base substitution C T missense_variant H142Y 424C>T MELA-AU 12 120990371 120990371 single base substitution C T missense_variant H92Y 274C>T MELA-AU 12 120990371 120990371 single base substitution C T upstream_gene_variant MELA-AU 12 120990653 120990653 single base substitution C T downstream_gene_variant MELA-AU 12 120990653 120990653 single base substitution C T intron_variant MELA-AU 12 120990653 120990653 single base substitution C T upstream_gene_variant MELA-AU 12 120990917 120990917 single base substitution C T downstream_gene_variant MELA-AU 12 120990917 120990917 single base substitution C T intron_variant MELA-AU 12 120990917 120990917 single base substitution C T upstream_gene_variant MELA-AU 12 120991010 120991010 single base substitution C T downstream_gene_variant MELA-AU 12 120991010 120991010 single base substitution C T intron_variant MELA-AU 12 120991010 120991010 single base substitution C T upstream_gene_variant MELA-AU 12 120991407 120991407 single base substitution C T downstream_gene_variant MELA-AU 12 120991407 120991407 single base substitution C T intron_variant MELA-AU 12 120991407 120991407 single base substitution C T upstream_gene_variant MELA-AU 12 120992374 120992374 single base substitution T C downstream_gene_variant MELA-AU 12 120992374 120992374 single base substitution T C exon_variant MELA-AU 12 120992374 120992374 single base substitution T C intron_variant MELA-AU 12 120992374 120992374 single base substitution T C upstream_gene_variant MELA-AU 12 120993226 120993226 single base substitution C T downstream_gene_variant MELA-AU 12 120993226 120993226 single base substitution C T intron_variant MELA-AU 12 120993226 120993226 single base substitution C T upstream_gene_variant MELA-AU 12 120993492 120993492 single base substitution T A downstream_gene_variant MELA-AU 12 120993492 120993492 single base substitution T A intron_variant MELA-AU 12 120993492 120993492 single base substitution T A upstream_gene_variant MELA-AU 12 120993502 120993502 single base substitution T C downstream_gene_variant MELA-AU 12 120993502 120993502 single base substitution T C intron_variant MELA-AU 12 120993502 120993502 single base substitution T C upstream_gene_variant MELA-AU 12 120994831 120994831 single base substitution C T downstream_gene_variant MELA-AU 12 120994831 120994831 single base substitution C T intron_variant MELA-AU 12 120994831 120994831 single base substitution C T upstream_gene_variant MELA-AU 12 120994874 120994874 single base substitution G A downstream_gene_variant MELA-AU 12 120994874 120994874 single base substitution G A intron_variant MELA-AU 12 120994874 120994874 single base substitution G A upstream_gene_variant MELA-AU 12 120994968 120994971 deletion of <=200bp GGAT - downstream_gene_variant MELA-AU 12 120994968 120994971 deletion of <=200bp GGAT - intron_variant MELA-AU 12 120994968 120994971 deletion of <=200bp GGAT - upstream_gene_variant MELA-AU 12 120994975 120994975 single base substitution C T downstream_gene_variant MELA-AU 12 120994975 120994975 single base substitution C T intron_variant MELA-AU 12 120994975 120994975 single base substitution C T upstream_gene_variant MELA-AU 12 120996382 120996382 single base substitution T A downstream_gene_variant MELA-AU 12 120996382 120996382 single base substitution T A intron_variant MELA-AU 12 120996382 120996382 single base substitution T A upstream_gene_variant MELA-AU 12 120997236 120997236 single base substitution G A downstream_gene_variant MELA-AU 12 120997236 120997236 single base substitution G A intron_variant MELA-AU 12 120997236 120997236 single base substitution G A upstream_gene_variant MELA-AU 12 120997455 120997455 single base substitution G A downstream_gene_variant MELA-AU 12 120997455 120997455 single base substitution G A intron_variant MELA-AU 12 120997455 120997455 single base substitution G A upstream_gene_variant MELA-AU 12 120997795 120997795 single base substitution T C downstream_gene_variant MELA-AU 12 120997795 120997795 single base substitution T C intron_variant MELA-AU 12 120997795 120997795 single base substitution T C upstream_gene_variant MELA-AU 12 120998649 120998649 single base substitution C T 5_prime_UTR_variant MELA-AU 12 120998649 120998649 single base substitution C T downstream_gene_variant MELA-AU 12 120998649 120998649 single base substitution C T exon_variant MELA-AU 12 120998649 120998649 single base substitution C T missense_variant P160L 479C>T MELA-AU 12 120998649 120998649 single base substitution C T missense_variant P363L 1088C>T MELA-AU 12 120998649 120998649 single base substitution C T missense_variant P40L 119C>T MELA-AU 12 120998649 120998649 single base substitution C T missense_variant P93L 278C>T MELA-AU 12 120998649 120998649 single base substitution C T upstream_gene_variant MELA-AU 12 120998904 120998904 single base substitution C G downstream_gene_variant MELA-AU 12 120998904 120998904 single base substitution C G intron_variant MELA-AU 12 120998904 120998904 single base substitution C G upstream_gene_variant MELA-AU 12 120999079 120999079 single base substitution G C downstream_gene_variant MELA-AU 12 120999079 120999079 single base substitution G C intron_variant MELA-AU 12 120999079 120999079 single base substitution G C upstream_gene_variant MELA-AU 12 120999749 120999749 single base substitution C T downstream_gene_variant MELA-AU 12 120999749 120999749 single base substitution C T intron_variant MELA-AU 12 120999749 120999749 single base substitution C T upstream_gene_variant MELA-AU 12 121000248 121000248 single base substitution T C downstream_gene_variant MELA-AU 12 121000248 121000248 single base substitution T C intron_variant MELA-AU 12 121000248 121000248 single base substitution T C upstream_gene_variant MELA-AU 12 121000846 121000846 single base substitution G A 5_prime_UTR_variant MELA-AU 12 121000846 121000846 single base substitution G A downstream_gene_variant MELA-AU 12 121000846 121000846 single base substitution G A exon_variant MELA-AU 12 121000846 121000846 single base substitution G A intron_variant MELA-AU 12 121000846 121000846 single base substitution G A synonymous_variant A409A 1227G>A MELA-AU 12 121000846 121000846 single base substitution G A synonymous_variant A86A 258G>A MELA-AU 12 121000846 121000846 single base substitution G A upstream_gene_variant MELA-AU 12 121000854 121000854 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 121000854 121000854 single base substitution C T downstream_gene_variant MELA-AU 12 121000854 121000854 single base substitution C T exon_variant MELA-AU 12 121000854 121000854 single base substitution C T intron_variant MELA-AU 12 121000854 121000854 single base substitution C T missense_variant S412F 1235C>T MELA-AU 12 121000854 121000854 single base substitution C T missense_variant S89F 266C>T MELA-AU 12 121000854 121000854 single base substitution C T upstream_gene_variant MELA-AU 12 121001736 121001736 single base substitution C T 5_prime_UTR_variant MELA-AU 12 121001736 121001736 single base substitution C T downstream_gene_variant MELA-AU 12 121001736 121001736 single base substitution C T exon_variant MELA-AU 12 121001736 121001736 single base substitution C T missense_variant S552F 1655C>T MELA-AU 12 121001736 121001736 single base substitution C T missense_variant S557F 1670C>T MELA-AU 12 121001736 121001736 single base substitution C T missense_variant S96F 287C>T MELA-AU 12 121001736 121001736 single base substitution C T upstream_gene_variant MELA-AU 12 121001842 121001842 single base substitution G A downstream_gene_variant MELA-AU 12 121001842 121001842 single base substitution G A intron_variant MELA-AU 12 121001842 121001842 single base substitution G A upstream_gene_variant MELA-AU 12 121002866 121002866 single base substitution C T downstream_gene_variant MELA-AU 12 121002866 121002866 single base substitution C T intron_variant MELA-AU 12 121002866 121002866 single base substitution C T upstream_gene_variant MELA-AU 12 121003955 121003955 single base substitution G T downstream_gene_variant MELA-AU 12 121003955 121003955 single base substitution G T intron_variant MELA-AU 12 121003955 121003955 single base substitution G T upstream_gene_variant MELA-AU 12 121004650 121004650 single base substitution C T downstream_gene_variant MELA-AU 12 121004650 121004650 single base substitution C T exon_variant MELA-AU 12 121004650 121004650 single base substitution C T intron_variant MELA-AU 12 121004650 121004650 single base substitution C T synonymous_variant L180L 540C>T MELA-AU 12 121004650 121004650 single base substitution C T synonymous_variant L636L 1908C>T MELA-AU 12 121004650 121004650 single base substitution C T synonymous_variant L641L 1923C>T MELA-AU 12 121004650 121004650 single base substitution C T synonymous_variant L84L 252C>T MELA-AU 12 121004650 121004650 single base substitution C T upstream_gene_variant MELA-AU 12 121004715 121004715 single base substitution C T downstream_gene_variant MELA-AU 12 121004715 121004715 single base substitution C T exon_variant MELA-AU 12 121004715 121004715 single base substitution C T intron_variant MELA-AU 12 121004715 121004715 single base substitution C T missense_variant P202L 605C>T MELA-AU 12 121004715 121004715 single base substitution C T missense_variant P658L 1973C>T MELA-AU 12 121004715 121004715 single base substitution C T missense_variant P663L 1988C>T MELA-AU 12 121004715 121004715 single base substitution C T upstream_gene_variant MELA-AU 12 121004812 121004813 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 121004812 121004813 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 121004812 121004813 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 121004888 121004888 single base substitution G A downstream_gene_variant MELA-AU 12 121004888 121004888 single base substitution G A intron_variant MELA-AU 12 121004888 121004888 single base substitution G A upstream_gene_variant MELA-AU 12 121005741 121005741 single base substitution G A downstream_gene_variant MELA-AU 12 121005741 121005741 single base substitution G A intron_variant MELA-AU 12 121005741 121005741 single base substitution G A upstream_gene_variant MELA-AU 12 121005853 121005853 single base substitution G A downstream_gene_variant MELA-AU 12 121005853 121005853 single base substitution G A intron_variant MELA-AU 12 121005853 121005853 single base substitution G A upstream_gene_variant MELA-AU 12 121006538 121006538 single base substitution C T downstream_gene_variant MELA-AU 12 121006538 121006538 single base substitution C T intron_variant MELA-AU 12 121006538 121006538 single base substitution C T upstream_gene_variant MELA-AU 12 121007365 121007365 single base substitution C T downstream_gene_variant MELA-AU 12 121007365 121007365 single base substitution C T intron_variant MELA-AU 12 121007365 121007365 single base substitution C T upstream_gene_variant MELA-AU 12 121010915 121010915 single base substitution C T intron_variant MELA-AU 12 121010915 121010915 single base substitution C T upstream_gene_variant MELA-AU 12 121011141 121011141 single base substitution C T intron_variant MELA-AU 12 121011141 121011141 single base substitution C T upstream_gene_variant MELA-AU 12 121013092 121013092 single base substitution T A downstream_gene_variant MELA-AU 12 121013092 121013092 single base substitution T A exon_variant MELA-AU 12 121013092 121013092 single base substitution T A intron_variant MELA-AU 12 121013092 121013092 single base substitution T A upstream_gene_variant MELA-AU 12 121013572 121013572 single base substitution G A downstream_gene_variant MELA-AU 12 121013572 121013572 single base substitution G A intron_variant MELA-AU 12 121016781 121016781 single base substitution G T downstream_gene_variant MELA-AU 12 121018775 121018775 single base substitution G T downstream_gene_variant MELA-AU 12 121019217 121019217 single base substitution C T downstream_gene_variant MELA-AU 12 121019241 121019242 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 121019322 121019322 single base substitution C T downstream_gene_variant MELA-AU 12 121019370 121019370 single base substitution G A downstream_gene_variant ORCA-IN 12 120966776 120966776 single base substitution C G upstream_gene_variant ORCA-IN 12 120991747 120991747 single base substitution G A downstream_gene_variant ORCA-IN 12 120991747 120991747 single base substitution G A exon_variant ORCA-IN 12 120991747 120991747 single base substitution G A intron_variant ORCA-IN 12 120991747 120991747 single base substitution G A upstream_gene_variant OV-AU 12 120971879 120971879 single base substitution T C intron_variant OV-AU 12 120971879 120971879 single base substitution T C upstream_gene_variant OV-AU 12 120982301 120982301 single base substitution A C intron_variant OV-AU 12 120982301 120982301 single base substitution A C upstream_gene_variant OV-AU 12 120984949 120984949 single base substitution A C intron_variant OV-AU 12 120993243 120993243 single base substitution C T downstream_gene_variant OV-AU 12 120993243 120993243 single base substitution C T intron_variant OV-AU 12 120993243 120993243 single base substitution C T upstream_gene_variant OV-AU 12 121015515 121015515 single base substitution T G downstream_gene_variant OV-US 12 120995221 120995221 single base substitution G A 3_prime_UTR_variant OV-US 12 120995221 120995221 single base substitution G A downstream_gene_variant OV-US 12 120995221 120995221 single base substitution G A intron_variant OV-US 12 120995221 120995221 single base substitution G A missense_variant S261N 782G>A OV-US 12 120995221 120995221 single base substitution G A missense_variant S58N 173G>A OV-US 12 120995221 120995221 single base substitution G A upstream_gene_variant PACA-AU 12 120966853 120966853 single base substitution C G upstream_gene_variant PACA-AU 12 120978454 120978454 single base substitution G A intron_variant PACA-AU 12 120978661 120978661 single base substitution T C intron_variant PACA-AU 12 120978663 120978663 single base substitution T C intron_variant PACA-AU 12 120980027 120980027 single base substitution C G intron_variant PACA-AU 12 120980027 120980027 single base substitution C G upstream_gene_variant PACA-AU 12 120997164 120997164 single base substitution T G downstream_gene_variant PACA-AU 12 120997164 120997164 single base substitution T G intron_variant PACA-AU 12 120997164 120997164 single base substitution T G upstream_gene_variant PACA-AU 12 121007583 121007583 single base substitution C T downstream_gene_variant PACA-AU 12 121007583 121007583 single base substitution C T intron_variant PACA-AU 12 121007583 121007583 single base substitution C T upstream_gene_variant PACA-AU 12 121009565 121009565 single base substitution T A downstream_gene_variant PACA-AU 12 121009565 121009565 single base substitution T A intron_variant PACA-AU 12 121009565 121009565 single base substitution T A upstream_gene_variant PACA-AU 12 121014611 121014611 deletion of <=200bp G - 3_prime_UTR_variant PACA-AU 12 121014611 121014611 deletion of <=200bp G - downstream_gene_variant PACA-AU 12 121014611 121014611 deletion of <=200bp G - exon_variant PACA-CA 12 120966321 120966321 single base substitution A G upstream_gene_variant PACA-CA 12 120968196 120968196 single base substitution G C upstream_gene_variant PACA-CA 12 120970625 120970625 single base substitution C T upstream_gene_variant PACA-CA 12 120972966 120972966 single base substitution T G downstream_gene_variant PACA-CA 12 120972966 120972966 single base substitution T G intron_variant PACA-CA 12 120972966 120972966 single base substitution T G upstream_gene_variant PACA-CA 12 120974626 120974626 single base substitution T C downstream_gene_variant PACA-CA 12 120974626 120974626 single base substitution T C intron_variant PACA-CA 12 120982855 120982855 insertion of <=200bp - A intron_variant PACA-CA 12 120982855 120982855 insertion of <=200bp - A upstream_gene_variant PACA-CA 12 120983285 120983285 single base substitution G T intron_variant PACA-CA 12 120983285 120983285 single base substitution G T upstream_gene_variant PACA-CA 12 120986563 120986563 single base substitution G A intron_variant PACA-CA 12 120988238 120988238 single base substitution A G intron_variant PACA-CA 12 120988238 120988238 single base substitution A G upstream_gene_variant PACA-CA 12 120991852 120991852 single base substitution C T downstream_gene_variant PACA-CA 12 120991852 120991852 single base substitution C T intron_variant PACA-CA 12 120991852 120991852 single base substitution C T upstream_gene_variant PACA-CA 12 120997184 120997184 single base substitution T G downstream_gene_variant PACA-CA 12 120997184 120997184 single base substitution T G intron_variant PACA-CA 12 120997184 120997184 single base substitution T G upstream_gene_variant PACA-CA 12 120997314 120997314 single base substitution A T downstream_gene_variant PACA-CA 12 120997314 120997314 single base substitution A T intron_variant PACA-CA 12 120997314 120997314 single base substitution A T upstream_gene_variant PACA-CA 12 121000549 121000549 single base substitution A G intron_variant PACA-CA 12 121000549 121000549 single base substitution A G upstream_gene_variant PACA-CA 12 121002363 121002363 single base substitution G T downstream_gene_variant PACA-CA 12 121002363 121002363 single base substitution G T intron_variant PACA-CA 12 121002363 121002363 single base substitution G T upstream_gene_variant PACA-CA 12 121009658 121009658 single base substitution A T downstream_gene_variant PACA-CA 12 121009658 121009658 single base substitution A T intron_variant PACA-CA 12 121009658 121009658 single base substitution A T upstream_gene_variant PACA-CA 12 121009821 121009821 single base substitution G C intron_variant PACA-CA 12 121009821 121009821 single base substitution G C upstream_gene_variant PACA-CA 12 121010826 121010826 single base substitution C T intron_variant PACA-CA 12 121010826 121010826 single base substitution C T upstream_gene_variant PACA-CA 12 121020273 121020273 single base substitution T C downstream_gene_variant PAEN-AU 12 120980964 120980964 single base substitution G A intron_variant PAEN-AU 12 120980964 120980964 single base substitution G A upstream_gene_variant PAEN-AU 12 120989982 120989982 single base substitution G A intron_variant PAEN-AU 12 120989982 120989982 single base substitution G A upstream_gene_variant PAEN-AU 12 120993150 120993150 single base substitution A G downstream_gene_variant PAEN-AU 12 120993150 120993150 single base substitution A G intron_variant PAEN-AU 12 120993150 120993150 single base substitution A G upstream_gene_variant PAEN-IT 12 120985972 120985972 single base substitution T C intron_variant PBCA-DE 12 120969246 120969246 single base substitution C T upstream_gene_variant PBCA-DE 12 120969423 120969423 single base substitution A T upstream_gene_variant PBCA-DE 12 120971592 120971592 single base substitution C T intron_variant PBCA-DE 12 120971592 120971592 single base substitution C T upstream_gene_variant PBCA-DE 12 120985518 120985518 insertion of <=200bp - GAGA intron_variant PBCA-DE 12 120988702 120988704 deletion of <=200bp AAT - intron_variant PBCA-DE 12 120988702 120988704 deletion of <=200bp AAT - upstream_gene_variant PBCA-DE 12 121015406 121015406 insertion of <=200bp - T downstream_gene_variant PBCA-DE 12 121019153 121019153 single base substitution T C downstream_gene_variant PRAD-CA 12 120984633 120984633 single base substitution A G intron_variant PRAD-CA 12 121008654 121008654 single base substitution C G downstream_gene_variant PRAD-CA 12 121008654 121008654 single base substitution C G intron_variant PRAD-CA 12 121008654 121008654 single base substitution C G upstream_gene_variant PRAD-UK 12 121001842 121001842 single base substitution G A downstream_gene_variant PRAD-UK 12 121001842 121001842 single base substitution G A intron_variant PRAD-UK 12 121001842 121001842 single base substitution G A upstream_gene_variant PRAD-UK 12 121016566 121016566 insertion of <=200bp - A downstream_gene_variant PRAD-UK 12 121016567 121016567 insertion of <=200bp - A downstream_gene_variant RECA-EU 12 120972589 120972589 single base substitution T C 5_prime_UTR_variant RECA-EU 12 120972589 120972589 single base substitution T C upstream_gene_variant RECA-EU 12 120972611 120972611 single base substitution G T 5_prime_UTR_variant RECA-EU 12 120972611 120972611 single base substitution G T upstream_gene_variant RECA-EU 12 120972622 120972622 single base substitution T A exon_variant RECA-EU 12 120972622 120972622 single base substitution T A missense_variant L3Q 8T>A RECA-EU 12 120972622 120972622 single base substitution T A upstream_gene_variant RECA-EU 12 120972634 120972634 single base substitution A G exon_variant RECA-EU 12 120972634 120972634 single base substitution A G missense_variant N7S 20A>G RECA-EU 12 120972634 120972634 single base substitution A G upstream_gene_variant RECA-EU 12 120972695 120972695 single base substitution T C downstream_gene_variant RECA-EU 12 120972695 120972695 single base substitution T C exon_variant RECA-EU 12 120972695 120972695 single base substitution T C synonymous_variant S27S 81T>C RECA-EU 12 120972695 120972695 single base substitution T C upstream_gene_variant RECA-EU 12 120976051 120976051 single base substitution T C downstream_gene_variant RECA-EU 12 120976051 120976051 single base substitution T C intron_variant RECA-EU 12 120982411 120982411 single base substitution A C intron_variant RECA-EU 12 120982411 120982411 single base substitution A C upstream_gene_variant RECA-EU 12 120989576 120989576 single base substitution G C intron_variant RECA-EU 12 120989576 120989576 single base substitution G C upstream_gene_variant RECA-EU 12 120992350 120992350 single base substitution C G downstream_gene_variant RECA-EU 12 120992350 120992350 single base substitution C G exon_variant RECA-EU 12 120992350 120992350 single base substitution C G intron_variant RECA-EU 12 120992350 120992350 single base substitution C G upstream_gene_variant RECA-EU 12 120997956 120997956 single base substitution T G downstream_gene_variant RECA-EU 12 120997956 120997956 single base substitution T G intron_variant RECA-EU 12 120997956 120997956 single base substitution T G upstream_gene_variant RECA-EU 12 120999651 120999651 single base substitution T C downstream_gene_variant RECA-EU 12 120999651 120999651 single base substitution T C intron_variant RECA-EU 12 120999651 120999651 single base substitution T C upstream_gene_variant RECA-EU 12 121002898 121002898 single base substitution T C downstream_gene_variant RECA-EU 12 121002898 121002898 single base substitution T C exon_variant RECA-EU 12 121002898 121002898 single base substitution T C synonymous_variant Y107Y 321T>C RECA-EU 12 121002898 121002898 single base substitution T C synonymous_variant Y11Y 33T>C RECA-EU 12 121002898 121002898 single base substitution T C synonymous_variant Y563Y 1689T>C RECA-EU 12 121002898 121002898 single base substitution T C synonymous_variant Y568Y 1704T>C RECA-EU 12 121002898 121002898 single base substitution T C upstream_gene_variant RECA-EU 12 121003986 121003986 single base substitution G A downstream_gene_variant RECA-EU 12 121003986 121003986 single base substitution G A intron_variant RECA-EU 12 121003986 121003986 single base substitution G A upstream_gene_variant RECA-EU 12 121008060 121008060 single base substitution G A downstream_gene_variant RECA-EU 12 121008060 121008060 single base substitution G A intron_variant RECA-EU 12 121012992 121012992 single base substitution T G downstream_gene_variant RECA-EU 12 121012992 121012992 single base substitution T G exon_variant RECA-EU 12 121012992 121012992 single base substitution T G intron_variant RECA-EU 12 121012992 121012992 single base substitution T G upstream_gene_variant RECA-EU 12 121014473 121014473 single base substitution T C 3_prime_UTR_variant RECA-EU 12 121014473 121014473 single base substitution T C downstream_gene_variant RECA-EU 12 121014473 121014473 single base substitution T C exon_variant SKCA-BR 12 120969595 120969595 single base substitution C T upstream_gene_variant SKCA-BR 12 120971115 120971115 single base substitution C A upstream_gene_variant SKCA-BR 12 120971823 120971823 single base substitution G A intron_variant SKCA-BR 12 120971823 120971823 single base substitution G A upstream_gene_variant SKCA-BR 12 120975315 120975315 single base substitution C T downstream_gene_variant SKCA-BR 12 120975315 120975315 single base substitution C T intron_variant SKCA-BR 12 120975409 120975409 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 12 120975409 120975409 insertion of <=200bp - TA intron_variant SKCA-BR 12 120983151 120983151 insertion of <=200bp - AT intron_variant SKCA-BR 12 120983151 120983151 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 12 120986463 120986463 insertion of <=200bp - CT intron_variant SKCA-BR 12 120989243 120989243 single base substitution A C intron_variant SKCA-BR 12 120989243 120989243 single base substitution A C upstream_gene_variant SKCA-BR 12 120993130 120993130 single base substitution A C downstream_gene_variant SKCA-BR 12 120993130 120993130 single base substitution A C intron_variant SKCA-BR 12 120993130 120993130 single base substitution A C upstream_gene_variant SKCA-BR 12 120994888 120994888 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 12 120994888 120994888 insertion of <=200bp - CA intron_variant SKCA-BR 12 120994888 120994888 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 120994905 120994905 single base substitution G A downstream_gene_variant SKCA-BR 12 120994905 120994905 single base substitution G A intron_variant SKCA-BR 12 120994905 120994905 single base substitution G A upstream_gene_variant SKCA-BR 12 120994917 120994917 single base substitution C T downstream_gene_variant SKCA-BR 12 120994917 120994917 single base substitution C T intron_variant SKCA-BR 12 120994917 120994917 single base substitution C T upstream_gene_variant SKCA-BR 12 120997622 120997622 single base substitution C T downstream_gene_variant SKCA-BR 12 120997622 120997622 single base substitution C T intron_variant SKCA-BR 12 120997622 120997622 single base substitution C T upstream_gene_variant SKCA-BR 12 121001555 121001555 single base substitution T G downstream_gene_variant SKCA-BR 12 121001555 121001555 single base substitution T G exon_variant SKCA-BR 12 121001555 121001555 single base substitution T G intron_variant SKCA-BR 12 121001555 121001555 single base substitution T G upstream_gene_variant SKCA-BR 12 121003852 121003852 single base substitution C T downstream_gene_variant SKCA-BR 12 121003852 121003852 single base substitution C T intron_variant SKCA-BR 12 121003852 121003852 single base substitution C T upstream_gene_variant SKCA-BR 12 121003860 121003860 single base substitution C T downstream_gene_variant SKCA-BR 12 121003860 121003860 single base substitution C T intron_variant SKCA-BR 12 121003860 121003860 single base substitution C T upstream_gene_variant SKCA-BR 12 121005665 121005665 single base substitution T G downstream_gene_variant SKCA-BR 12 121005665 121005665 single base substitution T G intron_variant SKCA-BR 12 121005665 121005665 single base substitution T G upstream_gene_variant SKCA-BR 12 121005682 121005682 single base substitution G A downstream_gene_variant SKCA-BR 12 121005682 121005682 single base substitution G A intron_variant SKCA-BR 12 121005682 121005682 single base substitution G A upstream_gene_variant SKCA-BR 12 121007043 121007043 single base substitution C T downstream_gene_variant SKCA-BR 12 121007043 121007043 single base substitution C T intron_variant SKCA-BR 12 121007043 121007043 single base substitution C T upstream_gene_variant SKCA-BR 12 121008230 121008230 single base substitution C T downstream_gene_variant SKCA-BR 12 121008230 121008230 single base substitution C T intron_variant SKCA-BR 12 121009411 121009411 single base substitution C T downstream_gene_variant SKCA-BR 12 121009411 121009411 single base substitution C T intron_variant SKCA-BR 12 121009411 121009411 single base substitution C T upstream_gene_variant SKCA-BR 12 121010703 121010703 insertion of <=200bp - CT intron_variant SKCA-BR 12 121010703 121010703 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 12 121019175 121019175 single base substitution C T downstream_gene_variant SKCA-BR 12 121019820 121019820 single base substitution C T downstream_gene_variant SKCM-US 12 120966880 120966880 single base substitution C T upstream_gene_variant SKCM-US 12 120966895 120966895 single base substitution C T upstream_gene_variant SKCM-US 12 120984355 120984355 single base substitution G A 3_prime_UTR_variant SKCM-US 12 120984355 120984355 single base substitution G A exon_variant SKCM-US 12 120984355 120984355 single base substitution G A intron_variant SKCM-US 12 120984355 120984355 single base substitution G A missense_variant G102D 305G>A SKCM-US 12 120984355 120984355 single base substitution G A missense_variant G52D 155G>A SKCM-US 12 120990331 120990331 single base substitution C T 3_prime_UTR_variant SKCM-US 12 120990331 120990331 single base substitution C T exon_variant SKCM-US 12 120990331 120990331 single base substitution C T intron_variant SKCM-US 12 120990331 120990331 single base substitution C T synonymous_variant S128S 384C>T SKCM-US 12 120990331 120990331 single base substitution C T synonymous_variant S78S 234C>T SKCM-US 12 120990331 120990331 single base substitution C T upstream_gene_variant SKCM-US 12 120992561 120992561 single base substitution C T 3_prime_UTR_variant SKCM-US 12 120992561 120992561 single base substitution C T downstream_gene_variant SKCM-US 12 120992561 120992561 single base substitution C T exon_variant SKCM-US 12 120992561 120992561 single base substitution C T intron_variant SKCM-US 12 120992561 120992561 single base substitution C T missense_variant H199Y 595C>T SKCM-US 12 120992561 120992561 single base substitution C T upstream_gene_variant SKCM-US 12 120995135 120995135 single base substitution T C 3_prime_UTR_variant SKCM-US 12 120995135 120995135 single base substitution T C downstream_gene_variant SKCM-US 12 120995135 120995135 single base substitution T C exon_variant SKCM-US 12 120995135 120995135 single base substitution T C intron_variant SKCM-US 12 120995135 120995135 single base substitution T C synonymous_variant P232P 696T>C SKCM-US 12 120995135 120995135 single base substitution T C synonymous_variant P29P 87T>C SKCM-US 12 120995135 120995135 single base substitution T C upstream_gene_variant SKCM-US 12 121000839 121000839 single base substitution C T 5_prime_UTR_variant SKCM-US 12 121000839 121000839 single base substitution C T downstream_gene_variant SKCM-US 12 121000839 121000839 single base substitution C T exon_variant SKCM-US 12 121000839 121000839 single base substitution C T intron_variant SKCM-US 12 121000839 121000839 single base substitution C T missense_variant P407L 1220C>T SKCM-US 12 121000839 121000839 single base substitution C T missense_variant P84L 251C>T SKCM-US 12 121000839 121000839 single base substitution C T upstream_gene_variant SKCM-US 12 121000873 121000873 single base substitution G A downstream_gene_variant SKCM-US 12 121000873 121000873 single base substitution G A exon_variant SKCM-US 12 121000873 121000873 single base substitution G A intron_variant SKCM-US 12 121000873 121000873 single base substitution G A splice_region_variant SKCM-US 12 121000873 121000873 single base substitution G A upstream_gene_variant SKCM-US 12 121002954 121002954 single base substitution C T downstream_gene_variant SKCM-US 12 121002954 121002954 single base substitution C T exon_variant SKCM-US 12 121002954 121002954 single base substitution C T missense_variant P126L 377C>T SKCM-US 12 121002954 121002954 single base substitution C T missense_variant P30L 89C>T SKCM-US 12 121002954 121002954 single base substitution C T missense_variant P582L 1745C>T SKCM-US 12 121002954 121002954 single base substitution C T missense_variant P587L 1760C>T SKCM-US 12 121002954 121002954 single base substitution C T upstream_gene_variant SKCM-US 12 121004729 121004729 single base substitution G A downstream_gene_variant SKCM-US 12 121004729 121004729 single base substitution G A exon_variant SKCM-US 12 121004729 121004729 single base substitution G A intron_variant SKCM-US 12 121004729 121004729 single base substitution G A missense_variant G207S 619G>A SKCM-US 12 121004729 121004729 single base substitution G A missense_variant G663S 1987G>A SKCM-US 12 121004729 121004729 single base substitution G A missense_variant G668S 2002G>A SKCM-US 12 121004729 121004729 single base substitution G A upstream_gene_variant SKCM-US 12 121004775 121004775 single base substitution C T downstream_gene_variant SKCM-US 12 121004775 121004775 single base substitution C T exon_variant SKCM-US 12 121004775 121004775 single base substitution C T intron_variant SKCM-US 12 121004775 121004775 single base substitution C T missense_variant S678F 2033C>T SKCM-US 12 121004775 121004775 single base substitution C T missense_variant S683F 2048C>T SKCM-US 12 121004775 121004775 single base substitution C T upstream_gene_variant SKCM-US 12 121009075 121009075 single base substitution C T downstream_gene_variant SKCM-US 12 121009075 121009075 single base substitution C T exon_variant SKCM-US 12 121009075 121009075 single base substitution C T intron_variant SKCM-US 12 121009075 121009075 single base substitution C T missense_variant P43L 128C>T SKCM-US 12 121009075 121009075 single base substitution C T missense_variant P708L 2123C>T SKCM-US 12 121009075 121009075 single base substitution C T missense_variant P713L 2138C>T SKCM-US 12 121009075 121009075 single base substitution C T upstream_gene_variant SKCM-US 12 121014413 121014413 single base substitution A C 3_prime_UTR_variant SKCM-US 12 121014413 121014413 single base substitution A C downstream_gene_variant SKCM-US 12 121014413 121014413 single base substitution A C exon_variant SKCM-US 12 121014413 121014413 single base substitution A C synonymous_variant R129R 385A>C SKCM-US 12 121014413 121014413 single base substitution A C synonymous_variant R794R 2380A>C SKCM-US 12 121014413 121014413 single base substitution A C synonymous_variant R799R 2395A>C SKCM-US 12 121019202 121019202 single base substitution G A downstream_gene_variant STAD-US 12 120966756 120966758 deletion of <=200bp CTC - upstream_gene_variant STAD-US 12 120990439 120990439 single base substitution C T 3_prime_UTR_variant STAD-US 12 120990439 120990439 single base substitution C T exon_variant STAD-US 12 120990439 120990439 single base substitution C T intron_variant STAD-US 12 120990439 120990439 single base substitution C T synonymous_variant S114S 342C>T STAD-US 12 120990439 120990439 single base substitution C T synonymous_variant S164S 492C>T STAD-US 12 120990439 120990439 single base substitution C T upstream_gene_variant STAD-US 12 120995154 120995154 single base substitution C T 3_prime_UTR_variant STAD-US 12 120995154 120995154 single base substitution C T downstream_gene_variant STAD-US 12 120995154 120995154 single base substitution C T exon_variant STAD-US 12 120995154 120995154 single base substitution C T intron_variant STAD-US 12 120995154 120995154 single base substitution C T missense_variant R239C 715C>T STAD-US 12 120995154 120995154 single base substitution C T missense_variant R36C 106C>T STAD-US 12 120995154 120995154 single base substitution C T upstream_gene_variant STAD-US 12 121002881 121002881 single base substitution C T downstream_gene_variant STAD-US 12 121002881 121002881 single base substitution C T exon_variant STAD-US 12 121002881 121002881 single base substitution C T stop_gained R102* 304C>T STAD-US 12 121002881 121002881 single base substitution C T stop_gained R558* 1672C>T STAD-US 12 121002881 121002881 single base substitution C T stop_gained R563* 1687C>T STAD-US 12 121002881 121002881 single base substitution C T stop_gained R6* 16C>T STAD-US 12 121002881 121002881 single base substitution C T upstream_gene_variant STAD-US 12 121013442 121013442 single base substitution G T 3_prime_UTR_variant STAD-US 12 121013442 121013442 single base substitution G T downstream_gene_variant STAD-US 12 121013442 121013442 single base substitution G T exon_variant STAD-US 12 121013442 121013442 single base substitution G T missense_variant R52S 156G>T STAD-US 12 121013442 121013442 single base substitution G T missense_variant R717S 2151G>T STAD-US 12 121013442 121013442 single base substitution G T missense_variant R722S 2166G>T STAD-US 12 121013630 121013630 single base substitution A G 3_prime_UTR_variant STAD-US 12 121013630 121013630 single base substitution A G downstream_gene_variant STAD-US 12 121013630 121013630 single base substitution A G exon_variant STAD-US 12 121013630 121013630 single base substitution A G missense_variant S746G 2236A>G STAD-US 12 121013630 121013630 single base substitution A G missense_variant S751G 2251A>G STAD-US 12 121013630 121013630 single base substitution A G missense_variant S81G 241A>G STAD-US 12 121013635 121013635 single base substitution C T 3_prime_UTR_variant STAD-US 12 121013635 121013635 single base substitution C T downstream_gene_variant STAD-US 12 121013635 121013635 single base substitution C T exon_variant STAD-US 12 121013635 121013635 single base substitution C T synonymous_variant D747D 2241C>T STAD-US 12 121013635 121013635 single base substitution C T synonymous_variant D752D 2256C>T STAD-US 12 121013635 121013635 single base substitution C T synonymous_variant D82D 246C>T STAD-US 12 121018991 121018991 single base substitution G A downstream_gene_variant THCA-US 12 121001322 121001322 single base substitution A G 5_prime_UTR_variant THCA-US 12 121001322 121001322 single base substitution A G downstream_gene_variant THCA-US 12 121001322 121001322 single base substitution A G exon_variant THCA-US 12 121001322 121001322 single base substitution A G missense_variant N22S 65A>G THCA-US 12 121001322 121001322 single base substitution A G missense_variant N476S 1427A>G THCA-US 12 121001322 121001322 single base substitution A G missense_variant N481S 1442A>G THCA-US 12 121001322 121001322 single base substitution A G upstream_gene_variant UCEC-US 12 120966825 120966825 single base substitution A C upstream_gene_variant UCEC-US 12 120990343 120990343 single base substitution C A 3_prime_UTR_variant UCEC-US 12 120990343 120990343 single base substitution C A exon_variant UCEC-US 12 120990343 120990343 single base substitution C A intron_variant UCEC-US 12 120990343 120990343 single base substitution C A missense_variant F132L 396C>A UCEC-US 12 120990343 120990343 single base substitution C A missense_variant F82L 246C>A UCEC-US 12 120990343 120990343 single base substitution C A upstream_gene_variant UCEC-US 12 120995114 120995114 single base substitution C T 3_prime_UTR_variant UCEC-US 12 120995114 120995114 single base substitution C T downstream_gene_variant UCEC-US 12 120995114 120995114 single base substitution C T exon_variant UCEC-US 12 120995114 120995114 single base substitution C T intron_variant UCEC-US 12 120995114 120995114 single base substitution C T synonymous_variant C225C 675C>T UCEC-US 12 120995114 120995114 single base substitution C T synonymous_variant C22C 66C>T UCEC-US 12 120995114 120995114 single base substitution C T upstream_gene_variant UCEC-US 12 120995216 120995216 single base substitution G A 3_prime_UTR_variant UCEC-US 12 120995216 120995216 single base substitution G A downstream_gene_variant UCEC-US 12 120995216 120995216 single base substitution G A intron_variant UCEC-US 12 120995216 120995216 single base substitution G A synonymous_variant T259T 777G>A UCEC-US 12 120995216 120995216 single base substitution G A synonymous_variant T56T 168G>A UCEC-US 12 120995216 120995216 single base substitution G A upstream_gene_variant UCEC-US 12 120995245 120995245 single base substitution C A 3_prime_UTR_variant UCEC-US 12 120995245 120995245 single base substitution C A downstream_gene_variant UCEC-US 12 120995245 120995245 single base substitution C A intron_variant UCEC-US 12 120995245 120995245 single base substitution C A missense_variant S269Y 806C>A UCEC-US 12 120995245 120995245 single base substitution C A missense_variant S66Y 197C>A UCEC-US 12 120995245 120995245 single base substitution C A upstream_gene_variant UCEC-US 12 120995254 120995254 single base substitution A T 3_prime_UTR_variant UCEC-US 12 120995254 120995254 single base substitution A T downstream_gene_variant UCEC-US 12 120995254 120995254 single base substitution A T intron_variant UCEC-US 12 120995254 120995254 single base substitution A T missense_variant K272M 815A>T UCEC-US 12 120995254 120995254 single base substitution A T missense_variant K69M 206A>T UCEC-US 12 120995254 120995254 single base substitution A T upstream_gene_variant UCEC-US 12 121000804 121000804 single base substitution T C 5_prime_UTR_variant UCEC-US 12 121000804 121000804 single base substitution T C downstream_gene_variant UCEC-US 12 121000804 121000804 single base substitution T C exon_variant UCEC-US 12 121000804 121000804 single base substitution T C intron_variant UCEC-US 12 121000804 121000804 single base substitution T C synonymous_variant V395V 1185T>C UCEC-US 12 121000804 121000804 single base substitution T C synonymous_variant V72V 216T>C UCEC-US 12 121000804 121000804 single base substitution T C upstream_gene_variant UCEC-US 12 121000846 121000846 single base substitution G A 5_prime_UTR_variant UCEC-US 12 121000846 121000846 single base substitution G A downstream_gene_variant UCEC-US 12 121000846 121000846 single base substitution G A exon_variant UCEC-US 12 121000846 121000846 single base substitution G A intron_variant UCEC-US 12 121000846 121000846 single base substitution G A synonymous_variant A409A 1227G>A UCEC-US 12 121000846 121000846 single base substitution G A synonymous_variant A86A 258G>A UCEC-US 12 121000846 121000846 single base substitution G A upstream_gene_variant UCEC-US 12 121001190 121001190 single base substitution C T downstream_gene_variant UCEC-US 12 121001190 121001190 single base substitution C T exon_variant UCEC-US 12 121001190 121001190 single base substitution C T intron_variant UCEC-US 12 121001190 121001190 single base substitution C T missense_variant T114M 341C>T UCEC-US 12 121001190 121001190 single base substitution C T missense_variant T432M 1295C>T UCEC-US 12 121001190 121001190 single base substitution C T missense_variant T437M 1310C>T UCEC-US 12 121001190 121001190 single base substitution C T upstream_gene_variant UCEC-US 12 121001211 121001211 single base substitution C T downstream_gene_variant UCEC-US 12 121001211 121001211 single base substitution C T exon_variant UCEC-US 12 121001211 121001211 single base substitution C T intron_variant UCEC-US 12 121001211 121001211 single base substitution C T missense_variant T121I 362C>T UCEC-US 12 121001211 121001211 single base substitution C T missense_variant T439I 1316C>T UCEC-US 12 121001211 121001211 single base substitution C T missense_variant T444I 1331C>T UCEC-US 12 121001211 121001211 single base substitution C T upstream_gene_variant UCEC-US 12 121001294 121001294 single base substitution T C 5_prime_UTR_variant UCEC-US 12 121001294 121001294 single base substitution T C downstream_gene_variant UCEC-US 12 121001294 121001294 single base substitution T C exon_variant UCEC-US 12 121001294 121001294 single base substitution T C missense_variant C13R 37T>C UCEC-US 12 121001294 121001294 single base substitution T C missense_variant C467R 1399T>C UCEC-US 12 121001294 121001294 single base substitution T C missense_variant C472R 1414T>C UCEC-US 12 121001294 121001294 single base substitution T C upstream_gene_variant UCEC-US 12 121001391 121001391 single base substitution G A 5_prime_UTR_variant UCEC-US 12 121001391 121001391 single base substitution G A downstream_gene_variant UCEC-US 12 121001391 121001391 single base substitution G A exon_variant UCEC-US 12 121001391 121001391 single base substitution G A missense_variant R45H 134G>A UCEC-US 12 121001391 121001391 single base substitution G A missense_variant R499H 1496G>A UCEC-US 12 121001391 121001391 single base substitution G A missense_variant R504H 1511G>A UCEC-US 12 121001391 121001391 single base substitution G A upstream_gene_variant UCEC-US 12 121001654 121001654 single base substitution C T 5_prime_UTR_variant UCEC-US 12 121001654 121001654 single base substitution C T downstream_gene_variant UCEC-US 12 121001654 121001654 single base substitution C T exon_variant UCEC-US 12 121001654 121001654 single base substitution C T missense_variant R525C 1573C>T UCEC-US 12 121001654 121001654 single base substitution C T missense_variant R530C 1588C>T UCEC-US 12 121001654 121001654 single base substitution C T missense_variant R69C 205C>T UCEC-US 12 121001654 121001654 single base substitution C T upstream_gene_variant UCEC-US 12 121003288 121003288 single base substitution G A downstream_gene_variant UCEC-US 12 121003288 121003288 single base substitution G A exon_variant UCEC-US 12 121003288 121003288 single base substitution G A missense_variant R158Q 473G>A UCEC-US 12 121003288 121003288 single base substitution G A missense_variant R1Q 2G>A UCEC-US 12 121003288 121003288 single base substitution G A missense_variant R614Q 1841G>A UCEC-US 12 121003288 121003288 single base substitution G A missense_variant R619Q 1856G>A UCEC-US 12 121003288 121003288 single base substitution G A missense_variant R62Q 185G>A UCEC-US 12 121003288 121003288 single base substitution G A upstream_gene_variant UCEC-US 12 121009031 121009031 single base substitution G T downstream_gene_variant UCEC-US 12 121009031 121009031 single base substitution G T exon_variant UCEC-US 12 121009031 121009031 single base substitution G T intron_variant UCEC-US 12 121009031 121009031 single base substitution G T missense_variant Q28H 84G>T UCEC-US 12 121009031 121009031 single base substitution G T missense_variant Q693H 2079G>T UCEC-US 12 121009031 121009031 single base substitution G T missense_variant Q698H 2094G>T UCEC-US 12 121009031 121009031 single base substitution G T upstream_gene_variant UCEC-US 12 121013664 121013664 single base substitution C A 3_prime_UTR_variant UCEC-US 12 121013664 121013664 single base substitution C A downstream_gene_variant UCEC-US 12 121013664 121013664 single base substitution C A exon_variant UCEC-US 12 121013664 121013664 single base substitution C A missense_variant P757H 2270C>A UCEC-US 12 121013664 121013664 single base substitution C A missense_variant P762H 2285C>A UCEC-US 12 121013664 121013664 single base substitution C A missense_variant P92H 275C>A UCEC-US 12 121014433 121014433 single base substitution G A 3_prime_UTR_variant UCEC-US 12 121014433 121014433 single base substitution G A downstream_gene_variant UCEC-US 12 121014433 121014433 single base substitution G A exon_variant UCEC-US 12 121014433 121014433 single base substitution G A synonymous_variant K135K 405G>A UCEC-US 12 121014433 121014433 single base substitution G A synonymous_variant K800K 2400G>A UCEC-US 12 121014433 121014433 single base substitution G A synonymous_variant K805K 2415G>A UCEC-US 12 121014454 121014454 single base substitution C T 3_prime_UTR_variant UCEC-US 12 121014454 121014454 single base substitution C T downstream_gene_variant UCEC-US 12 121014454 121014454 single base substitution C T exon_variant UCEC-US 12 121014454 121014454 single base substitution C T synonymous_variant V142V 426C>T UCEC-US 12 121014454 121014454 single base substitution C T synonymous_variant V807V 2421C>T UCEC-US 12 121014454 121014454 single base substitution C T synonymous_variant V812V 2436C>T UCEC-US 12 121017688 121017688 single base substitution G A downstream_gene_variant UCEC-US 12 121017724 121017724 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CCC6T COSM3703894 c.2161G>A p.A721T Substitution - Missense 12:120575649-120575649 + TCGA-AC-A23H-01 COSM3811226 c.83C>T p.S28L Substitution - Missense 12:120534894-120534894 + Pat_01_B COSM5840320 c.1952C>T p.S651F Substitution - Missense 12:120566891-120566891 + 034T COSM1728524 c.526T>G p.F176V Substitution - Missense 12:120552670-120552670 + pfg008T COSM1639054 c.1277C>T p.A426V Substitution - Missense 12:120563369-120563369 + TCGA-D1-A167-01 COSM935929 c.1295C>T p.T432M Substitution - Missense 12:120563387-120563387 + QC2-22-T2 COSM5653047 c.499A>T p.K167* Substitution - Nonsense 12:120552643-120552643 + LUAD-CHTN-4090680 COSM357719 c.403_404CC>GT p.P135>? Complex 12:120552547-120552548 + 587342 COSM1223877 c.1178C>T p.T393I Substitution - Missense 12:120562994-120562994 + TCGA-A4-A6HP-01 COSM3986692 c.312C>A p.S104R Substitution - Missense 12:120546559-120546559 + TCGA-DK-A3WW-01 COSM3792259 c.1771G>C p.E591Q Substitution - Missense 12:120565177-120565177 + TCGA-HT-8564-01 COSM3968027 c.1136A>G p.E379G Substitution - Missense 12:120562952-120562952 + TCGA-FS-A1ZZ-06 COSM3457056 c.2380A>C p.R794R Substitution - coding silent 12:120576610-120576610 + S02284 COSM5684029 c.859G>A p.V287I Substitution - Missense 12:120557574-120557574 + TCGA-36-1570-01 COSM115882 c.1909G>A p.E637K Substitution - Missense 12:120566848-120566848 + S02277 COSM5683035 c.838G>T p.A280S Substitution - Missense 12:120557553-120557553 + CSCC-37-T COSM4460230 c.1158C>T p.A386A Substitution - coding silent 12:120562974-120562974 + TCGA-BG-A0M4-01 COSM935931 c.1399T>C p.C467R Substitution - Missense 12:120563491-120563491 + CCC6 COSM3703894 c.2161G>A p.A721T Substitution - Missense 12:120575649-120575649 + SNU-283 COSM2175270 c.404C>T p.P135L Substitution - Missense 12:120552548-120552548 + TCGA-B0-4827-01 COSM467899 c.1685G>T p.R562I Substitution - Missense 12:120565091-120565091 + 01-P131 COSM4575096 c.286C>T p.P96S Substitution - Missense 12:120546533-120546533 + sysucc-834T COSM5485557 c.878C>T p.T293M Substitution - Missense 12:120557593-120557593 + 2492729 COSM5729961 c.1588G>T p.E530* Substitution - Nonsense 12:120563866-120563866 + 169 COSM3729841 c.843A>C p.T281T Substitution - coding silent 12:120557558-120557558 + TCGA-DK-A1AC-01 COSM1299005 c.894G>A p.K298K Substitution - coding silent 12:120557609-120557609 + 060T COSM935933 c.1841G>A p.R614Q Substitution - Missense 12:120565485-120565485 + TCGA-AG-A002-01 COSM263363 c.2196G>T p.K732N Substitution - Missense 12:120575684-120575684 + SNU-175 COSM2175297 c.1804C>T p.R602C Substitution - Missense 12:120565448-120565448 + Pat_60_B COSM430512 c.1679G>A p.R560H Substitution - Missense 12:120565085-120565085 + TCGA-HU-A4GQ-01 COSM4039406 c.715C>T p.R239C Substitution - Missense 12:120557351-120557351 + KM12 COSM2175305 c.2103G>A p.G701G Substitution - coding silent 12:120571252-120571252 + TCGA-D1-A101-01 COSM935935 c.2173G>A p.V725M Substitution - Missense 12:120575661-120575661 + TCGA-D1-A163-01 COSM935923 c.675C>T p.C225C Substitution - coding silent 12:120557311-120557311 + TCGA-BT-A20X-01 COSM1299006 c.1448G>T p.C483F Substitution - Missense 12:120563540-120563540 + C0017T COSM4166074 c.8T>A p.L3Q Substitution - Missense 12:120534819-120534819 + TCGA-33-4547-01 COSM691784 c.795C>G p.I265M Substitution - Missense 12:120557431-120557431 + LC_S3 COSM1188626 c.2167G>C p.A723P Substitution - Missense 12:120575655-120575655 + TCGA-EE-A29R-06 COSM3457050 c.696T>C p.P232P Substitution - coding silent 12:120557332-120557332 + TCGA-AP-A059-01 COSM935925 c.806C>A p.S269Y Substitution - Missense 12:120557442-120557442 + HCC72T COSM1605655 c.151A>G p.K51E Substitution - Missense 12:120534962-120534962 + TCGA-BG-A0M8-01 COSM935934 c.2079G>T p.Q693H Substitution - Missense 12:120571228-120571228 + PTC-28C COSM4146718 c.198A>C p.K66N Substitution - Missense 12:120546445-120546445 + TCGA-EE-A29V-06 COSM3457055 c.2123C>T p.P708L Substitution - Missense 12:120571272-120571272 + pfg008T COSM1639054 c.1277C>T p.A426V Substitution - Missense 12:120563369-120563369 + T2932 COSM4721920 c.867T>C p.G289G Substitution - coding silent 12:120557582-120557582 + TCGA-AX-A0J1-01 COSM202371 c.1573C>T p.R525C Substitution - Missense 12:120563851-120563851 + TCGA-B5-A11U-01 COSM935932 c.1496G>A p.R499H Substitution - Missense 12:120563588-120563588 + CSCC-27-T COSM4474935 c.1953C>T p.S651S Substitution - coding silent 12:120566892-120566892 + TCGA-BS-A0UF-01 COSM935928 c.1227G>A p.A409A Substitution - coding silent 12:120563043-120563043 + RK308_C01 COSM3739466 c.1159G>A p.G387R Substitution - Missense 12:120562975-120562975 + CSCC-41-T COSM4532829 c.1923G>A p.Q641Q Substitution - coding silent 12:120566862-120566862 + STC291 COSM5051400 c.160G>T p.G54* Substitution - Nonsense 12:120546407-120546407 + TCGA-EM-A4FO-01 COSM3368683 c.1427A>G p.N476S Substitution - Missense 12:120563519-120563519 + TCGA-BP-4758-01 COSM3359580 c.882G>T p.M294I Substitution - Missense 12:120557597-120557597 + TCGA-ER-A19F-06 COSM3457052 c.1254G>A p.K418K Substitution - coding silent 12:120563070-120563070 + C0017T COSM2175254 c.81T>C p.S27S Substitution - coding silent 12:120534892-120534892 + PD11752a COSM5783306 c.797G>A p.C266Y Substitution - Missense 12:120557433-120557433 + TCGA-AC-A23H-01 COSM1264330 c.795C>T p.I265I Substitution - coding silent 12:120557431-120557431 + TCGA-AX-A05Z-01 COSM935922 c.396C>A p.F132L Substitution - Missense 12:120552540-120552540 + TCGA-A8-A06Z-01 COSM430513 c.2246A>G p.E749G Substitution - Missense 12:120575837-120575837 + CHEWS034 COSM4575098 c.1582G>A p.V528M Substitution - Missense 12:120563860-120563860 + TCGA-DD-A115-01 COSM4919709 c.2254A>T p.N752Y Substitution - Missense 12:120575845-120575845 + C0089T COSM2175254 c.81T>C p.S27S Substitution - coding silent 12:120534892-120534892 + LUAD-B01169 COSM333539 c.18C>T p.P6P Substitution - coding silent 12:120534829-120534829 + TCGA-AZ-4315-01 COSM1359377 c.332T>C p.F111S Substitution - Missense 12:120546579-120546579 + TCGA-B6-A0I9-01 COSM430512 c.1679G>A p.R560H Substitution - Missense 12:120565085-120565085 + TCGA-GC-A3RC-01 COSM3792257 c.856T>C p.Y286H Substitution - Missense 12:120557571-120557571 + BD197T COSM3703894 c.2161G>A p.A721T Substitution - Missense 12:120575649-120575649 + TCGA-24-0966-01 COSM76255 c.782G>A p.S261N Substitution - Missense 12:120557418-120557418 + TCGA-BP-5176-01 COSM467901 c.2290T>C p.S764P Substitution - Missense 12:120575881-120575881 + SW1116 COSM4654591 c.149C>G p.P50R Substitution - Missense 12:120534960-120534960 + C0017T COSM4166075 c.20A>G p.N7S Substitution - Missense 12:120534831-120534831 + TCGA-DK-A3IN-01 COSM3792258 c.935G>A p.W312* Substitution - Nonsense 12:120557650-120557650 + RKO COSM2175268 c.383G>A p.S128N Substitution - Missense 12:120552527-120552527 + 489 COSM3723384 c.1146G>T p.L382L Substitution - coding silent 12:120562962-120562962 + TCGA-BR-8360-01 COSM4039407 c.1672C>T p.R558* Substitution - Nonsense 12:120565078-120565078 + TCGA-BR-4368-01 COSM4039405 c.492C>T p.S164S Substitution - coding silent 12:120552636-120552636 + YUKAT COSM5374387 c.1638G>A p.V546V Substitution - coding silent 12:120563916-120563916 + TCGA-FW-A3R5-06 COSM3870927 c.1745C>T p.P582L Substitution - Missense 12:120565151-120565151 + TCGA-43-2578-01 COSM691785 c.151A>C p.K51Q Substitution - Missense 12:120534962-120534962 + 446 COSM4434941 c.825C>G p.L275L Substitution - coding silent 12:120557461-120557461 + ESCC-205T COSM3935772 c.502A>G p.R168G Substitution - Missense 12:120552646-120552646 + TCGA-EB-A3XB-01 COSM3457054 c.2033C>T p.S678F Substitution - Missense 12:120566972-120566972 + TCGA-CA-6717-01 COSM430512 c.1679G>A p.R560H Substitution - Missense 12:120565085-120565085 + Pat_01_A COSM5840320 c.1952C>T p.S651F Substitution - Missense 12:120566891-120566891 + CSCC-40-T COSM4535319 c.2178G>T p.W726C Substitution - Missense 12:120575666-120575666 + TCGA-CK-5916-01 COSM3687854 c.1027C>T p.R343W Substitution - Missense 12:120560785-120560785 + TCGA-CA-6717-01 COSM1359381 c.1595G>A p.G532D Substitution - Missense 12:120563873-120563873 + TCGA-AP-A0LM-01 COSM935933 c.1841G>A p.R614Q Substitution - Missense 12:120565485-120565485 + TCGA-FW-A3R5-06 COSM3870926 c.595C>T p.H199Y Substitution - Missense 12:120554758-120554758 + C0052T COSM4166076 c.1689T>C p.Y563Y Substitution - coding silent 12:120565095-120565095 + T32 COSM5341921 c.2003C>T p.S668F Substitution - Missense 12:120566942-120566942 + TCGA-AP-A059-01 COSM935936 c.2270C>A p.P757H Substitution - Missense 12:120575861-120575861 + TCGA-22-1002-01 COSM691782 c.1373C>G p.P458R Substitution - Missense 12:120563465-120563465 + SNUH_G16_S1 COSM3998686 c.1886-10T>G p.? Unknown 12:120566815-120566815 + ESO-720 COSM1264331 c.570G>A p.V190V Substitution - coding silent 12:120554733-120554733 + ESCC-010T COSM3935773 c.2170G>C p.D724H Substitution - Missense 12:120575658-120575658 + 07-P1079 COSM4575097 c.1381G>C p.E461Q Substitution - Missense 12:120563473-120563473 + TCGA-EE-A2GN-06 COSM3457053 c.1987G>A p.G663S Substitution - Missense 12:120566926-120566926 + LUAD-F00368 COSM340949 c.1986G>T p.E662D Substitution - Missense 12:120566925-120566925 + BCB111T COSM4790501 c.1203A>G p.Q401Q Substitution - coding silent 12:120563019-120563019 + PD11765a COSM5796755 c.968-3T>C p.? Unknown 12:120560723-120560723 + TCGA-AP-A0LM-01 COSM935938 c.2421C>T p.V807V Substitution - coding silent 12:120576651-120576651 + TCGA-IR-A3LH-01 COSM4833537 c.1243C>G p.Q415E Substitution - Missense 12:120563059-120563059 + TCGA-D8-A1JP-01 COSM1476240 c.1534G>A p.E512K Substitution - Missense 12:120563812-120563812 + CSCC-31-T COSM3457049 c.384C>T p.S128S Substitution - coding silent 12:120552528-120552528 + T2950 COSM2175298 c.1834C>T p.R612C Substitution - Missense 12:120565478-120565478 + T3498 COSM4721919 c.97G>A p.G33R Substitution - Missense 12:120534908-120534908 + HCC115T COSM5807019 c.1444A>T p.I482F Substitution - Missense 12:120563536-120563536 + TCGA-F1-6177-01 COSM4039408 c.2151G>T p.R717S Substitution - Missense 12:120575639-120575639 + TCGA-BS-A0V7-01 COSM935926 c.815A>T p.K272M Substitution - Missense 12:120557451-120557451 + S02353 COSM5695449 c.1536A>G p.E512E Substitution - coding silent 12:120563814-120563814 + TCGA-BS-A0UJ-01 COSM935927 c.1185T>C p.V395V Substitution - coding silent 12:120563001-120563001 + CSCC-35-T COSM4477310 c.2140C>T p.Q714* Substitution - Nonsense 12:120571289-120571289 + LUAD_E00565 COSM389086 c.283A>G p.M95V Substitution - Missense 12:120546530-120546530 + TCGA-HU-A4GT-01 COSM4039410 c.2241C>T p.D747D Substitution - coding silent 12:120575832-120575832 + TCGA-EE-A2MF-06 COSM4892779 c.305G>A p.G102D Substitution - Missense 12:120546552-120546552 + T2950 COSM430512 c.1679G>A p.R560H Substitution - Missense 12:120565085-120565085 + CSCC-31-T COSM4481545 c.251C>T p.S84F Substitution - Missense 12:120546498-120546498 + TCGA-AP-A059-01 COSM935930 c.1316C>T p.T439I Substitution - Missense 12:120563408-120563408 + 53M COSM5595240 c.2079G>A p.Q693Q Substitution - coding silent 12:120571228-120571228 + PD24191a COSM5784547 c.237C>A p.N79K Substitution - Missense 12:120546484-120546484 + 9227_T COSM5039634 c.1312G>A p.D438N Substitution - Missense 12:120563404-120563404 + SNUH_G52_S1 COSM3998685 c.344G>A p.R115K Substitution - Missense 12:120546591-120546591 + pfg120T COSM4760715 c.2094C>G p.F698L Substitution - Missense 12:120571243-120571243 + Pat_41_B COSM5840319 c.820G>A p.D274N Substitution - Missense 12:120557456-120557456 + BCB111T COSM4790501 c.1203A>G p.Q401Q Substitution - coding silent 12:120563019-120563019 + ATL058 COSM5704318 c.82T>C p.S28P Substitution - Missense 12:120534893-120534893 + TCGA-EE-A2MK-06 COSM3457049 c.384C>T p.S128S Substitution - coding silent 12:120552528-120552528 + CCK81 COSM2175255 c.109delC p.R38fs*82 Deletion - Frameshift 12:120534920-120534920 + LB771-HNC COSM23473 c.1090G>A p.E364K Substitution - Missense 12:120560848-120560848 + 587338 COSM1223876 c.1230G>T p.K410N Substitution - Missense 12:120563046-120563046 + H_0010B_GD COSM3720614 c.2336C>T p.P779L Substitution - Missense 12:120575927-120575927 + TCGA-AA-3510-01 COSM1359385 c.2291C>T p.S764F Substitution - Missense 12:120575882-120575882 + T55 COSM2175283 c.1296G>A p.T432T Substitution - coding silent 12:120563388-120563388 + C0089T COSM4166075 c.20A>G p.N7S Substitution - Missense 12:120534831-120534831 + BD124T COSM5493046 c.803G>A p.S268N Substitution - Missense 12:120557439-120557439 + RK119_C01 COSM3739467 c.2238C>T p.S746S Substitution - coding silent 12:120575829-120575829 + RK308_C01 COSM3739465 c.157+2T>C p.? Unknown 12:120534970-120534970 + CSCC-15-T COSM4571731 c.527T>A p.F176Y Substitution - Missense 12:120552671-120552671 + PT35 COSM5913452 c.2042-8C>T p.? Unknown 12:120571183-120571183 + TCGA-E2-A14N-01 COSM430511 c.958C>T p.H320Y Substitution - Missense 12:120557673-120557673 + TCGA-EE-A2GI-06 COSM3457051 c.1220C>T p.P407L Substitution - Missense 12:120563036-120563036 + TCGA-D1-A103-01 COSM935924 c.777G>A p.T259T Substitution - coding silent 12:120557413-120557413 + PCA17-2 COSM5415415 c.416A>G p.N139S Substitution - Missense 12:120552560-120552560 + 587336 COSM1223875 c.370C>T p.R124W Substitution - Missense 12:120552514-120552514 + RKO COSM2175267 c.375A>G p.A125A Substitution - coding silent 12:120552519-120552519 + TCGA-BP-5194-01 COSM467900 c.2024G>C p.S675T Substitution - Missense 12:120566963-120566963 + LUAD-F00162 COSM366131 c.2039C>A p.A680E Substitution - Missense 12:120566978-120566978 + 61 COSM5739835 c.86G>A p.G29D Substitution - Missense 12:120534897-120534897 + TCGA-AZ-4315-01 COSM1359382 c.1846C>T p.R616C Substitution - Missense 12:120565490-120565490 + 587226 COSM1223874 c.31A>G p.T11A Substitution - Missense 12:120534842-120534842 + 4760_CLM COSM5753884 c.981C>T p.S327S Substitution - coding silent 12:120560739-120560739 + S00539 COSM5658712 c.1A>G p.M1V Substitution - Missense 12:120534812-120534812 + S02292 COSM5687329 c.1183G>T p.V395F Substitution - Missense 12:120562999-120562999 + TCGA-AN-A046-01 COSM3811227 c.1761G>T p.K587N Substitution - Missense 12:120565167-120565167 + ESCC-250T COSM3935774 c.2409C>G p.F803L Substitution - Missense 12:120576639-120576639 + TCGA-AP-A056-01 COSM935937 c.2400G>A p.K800K Substitution - coding silent 12:120576630-120576630 + ESO-0149 COSM1264330 c.795C>T p.I265I Substitution - coding silent 12:120557431-120557431 + TCGA-DK-A3IT-01 COSM1299008 c.1639G>C p.E547Q Substitution - Missense 12:120563917-120563917 + TCGA-BR-4267-01 COSM4039409 c.2236A>G p.S746G Substitution - Missense 12:120575827-120575827 + CLL152 COSM1289696 c.1830G>A p.E610E Substitution - coding silent 12:120565474-120565474 + TCGA-CF-A27C-01 COSM1299007 c.1586G>T p.R529L Substitution - Missense 12:120563864-120563864 + 2293785 COSM4609604 c.2069C>T p.T690I Substitution - Missense 12:120571218-120571218 + SC_9055 COSM5565004 c.647G>A p.R216H Substitution - Missense 12:120557283-120557283 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.442793;Hs.442798 12q24.31 2472516|CGAP|BC016622|A/G|coding|Thr432Thr|1742|Candidate; 2472516|CGAP|BC031596|A/G|coding|Thr432Thr|1742|Candidate; 2472516|CGAP|BC101709|A/G|coding|Thr432Thr|1368|Candidate; 2472516|CGAP|BC101715|A/G|coding|Thr432Thr|1368|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E465A c.1394A>C 12 121001289 COREAD A C Missense p.K51Q c.151A>C 12 120972765 LUSC A C Synonymous p.R794R c.2380A>C 12 121014413 CM A G IntronicSNV . c.555-43A>G 12 120992478 CM A G Missense p.E749G c.2246A>G 12 121013640 BRCA A G Missense p.S219G c.655A>G 12 120995094 HNSC A G Missense p.S746G c.2236A>G 12 121013630 STAD A T Missense p.E379V c.1136A>T 12 121000755 STAD A T Missense p.K272M c.815A>T 12 120995254 UCEC C A Missense p.P447H c.1340C>A 12 121001235 LUAD C G Missense p.I265M c.795C>G 12 120995234 LUSC C G Missense p.P458R c.1373C>G 12 121001268 LUSC C T IntronicSNV . c.2143-12C>T 12 121013422 CM C T Missense p.A426V c.1277C>T 12 121001172 STAD C T Missense p.H320Y c.958C>T 12 120995476 BRCA C T Missense p.P407L c.1220C>T 12 121000839 CM C T Missense p.P708L c.2123C>T 12 121009075 CM C T Missense p.P96L c.287C>T 12 120984337 LUAD C T Missense p.R613C c.1837C>T 12 121003284 LUAD C T Synonymous p.C225C c.675C>T 12 120995114 UCEC C T Synonymous p.C228C c.684C>T 12 120995123 CM C T Synonymous p.I265I c.795C>T 12 120995234 ESCA C T Synonymous p.S128S c.384C>T 12 120990331 CM C T Synonymous p.S164S c.492C>T 12 120990439 STAD C T Synonymous p.S764S c.2292C>T 12 121013686 HNSC G A Missense p.E465K c.1393G>A 12 121001288 COREAD G A Missense p.E512K c.1534G>A 12 121001615 BRCA G A Missense p.E637K c.1909G>A 12 121004651 OV G A Missense p.G102D c.305G>A 12 120984355 CM G A Missense p.G289D c.866G>A 12 120995384 HNSC G A Missense p.G663S c.1987G>A 12 121004729 CM G A Missense p.R499H c.1496G>A 12 121001391 UCEC G A Missense p.R560H c.1679G>A 12 121002888 BRCA G A Missense p.S261N c.782G>A 12 120995221 OV G A Nonsense p.W312* c.935G>A 12 120995453 BLCA G A Synonymous p.E452E c.1356G>A 12 121001251 LUAD G A Synonymous p.E610E c.1830G>A 12 121003277 CLL G A Synonymous p.K418K c.1254G>A 12 121000873 CM G C Missense p.C650S c.1949G>C 12 121004691 LUAD G C Missense p.E547Q c.1639G>C 12 121001720 BLCA G C Missense p.K272N c.816G>C 12 120995255 HNSC G C Missense p.K51N c.153G>C 12 120972767 HNSC G C Missense p.R617S c.1851G>C 12 121003298 CM G C Missense p.S675T c.2024G>C 12 121004766 RCCC G T Missense p.C483F c.1448G>T 12 121001343 BLCA G T Missense p.M294I c.882G>T 12 120995400 RCCC G T Missense p.Q693H c.2079G>T 12 121009031 UCEC G T Missense p.R529L c.1586G>T 12 121001667 BLCA G T Missense p.R562I c.1685G>T 12 121002894 RCCC G T Missense p.R717S c.2151G>T 12 121013442 STAD G T Nonsense p.E379* c.1135G>T 12 121000754 STAD G T Synonymous p.L382L c.1146G>T 12 121000765 HNSC T - 3-UTRDeletion . c.2433+56delT 12 121014514 STAD T C Missense p.C467R c.1399T>C 12 121001294 UCEC T C Missense p.S764P c.2290T>C 12 121013684 RCCC T C Synonymous p.P232P c.696T>C 12 120995135 CM T G Missense p.S670A c.2008T>G 12 121004750 CM T G Synonymous p.P96P c.288T>G 12 120984338 STAD