Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 9 33941759 33941759 + Missense_Mutation SNP T T C TCGA-OR-A5L5-01A-11D-A29I-10 TCGA-OR-A5L5-10A-01D-A29L-10 g.chr9:33941759T>C c.1817A>G c.(1816-1818)aAt>aGt p.N606S ACC 9 33941759 33941759 + Missense_Mutation SNP T T C TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr9:33941759T>C c.1817A>G c.(1816-1818)aAt>aGt p.N606S BLCA 9 33923031 33923031 + IGR SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr9:33923031C>T BLCA 9 33927842 33927842 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr9:33927842G>A c.2324C>T c.(2323-2325)gCg>gTg p.A775V BLCA 9 33935847 33935847 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr9:33935847C>G c.1959G>C c.(1957-1959)caG>caC p.Q653H BLCA 9 33941739 33941739 + Missense_Mutation SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr9:33941739T>C c.1837A>G c.(1837-1839)Atg>Gtg p.M613V BLCA 9 33943441 33943441 + Silent SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr9:33943441G>A c.1692C>T c.(1690-1692)atC>atT p.I564I BLCA 9 33948389 33948389 + Nonsense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr9:33948389G>T c.1253C>A c.(1252-1254)tCa>tAa p.S418* BLCA 9 33973226 33973226 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr9:33973226C>T c.530G>A c.(529-531)cGt>cAt p.R177H BLCA 9 33996301 33996301 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr9:33996301C>T c.208G>A c.(208-210)Gaa>Aaa p.E70K BLCA 9 33998823 33998823 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr9:33998823C>G c.139G>C c.(139-141)Gat>Cat p.D47H BLCA 9 34017107 34017107 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr9:34017107G>A c.40C>T c.(40-42)Cgg>Tgg p.R14W BRCA 9 33922571 33922571 + IGR DEL G G - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr9:33922571delG BRCA 9 33923840 33923841 + In_Frame_Ins INS - - GGG TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 g.chr9:33923840_33923841insGGG c.2748_2749insCCC c.(2746-2751)ccctac>cccCCCtac p.916_917insP BRCA 9 33923949 33923949 + Silent SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr9:33923949A>C c.2640T>G c.(2638-2640)gcT>gcG p.A880A BRCA 9 33923997 33923997 + Splice_Site SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr9:33923997A>C c.2592T>G c.(2590-2592)ggT>ggG p.G864G BRCA 9 33941794 33941794 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr9:33941794G>A c.1782C>T c.(1780-1782)gtC>gtT p.V594V BRCA 9 33944419 33944419 + Nonsense_Mutation SNP G G A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr9:33944419G>A c.1489C>T c.(1489-1491)Cag>Tag p.Q497* BRCA 9 33948440 33948440 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr9:33948440T>G c.1202A>C c.(1201-1203)cAc>cCc p.H401P BRCA 9 33973198 33973198 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr9:33973198G>C c.558C>G c.(556-558)ttC>ttG p.F186L BRCA 9 33989072 33989072 + Nonsense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr9:33989072G>C c.341C>G c.(340-342)tCa>tGa p.S114* CESC 9 33922521 33922521 + IGR SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr9:33922521G>A CESC 9 33922757 33922757 + IGR SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 g.chr9:33922757G>C CESC 9 33953364 33953364 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr9:33953364G>A c.975C>T c.(973-975)ttC>ttT p.F325F CESC 9 33996307 33996307 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr9:33996307G>C c.202C>G c.(202-204)Cag>Gag p.Q68E CHOL 9 33927945 33927945 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr9:33927945A>C c.2221T>G c.(2221-2223)Ttc>Gtc p.F741V CHOL 9 33989030 33989030 + Nonsense_Mutation SNP G G T TCGA-ZU-A8S4-01A-11D-A417-09 TCGA-ZU-A8S4-10A-01D-A41A-09 g.chr9:33989030G>T c.383C>A c.(382-384)tCg>tAg p.S128* COAD 9 33923251 33923251 + IGR SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:33923251G>A COAD 9 33923265 33923265 + IGR SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr9:33923265C>T COAD 9 33924247 33924247 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr9:33924247C>T c.2547G>A c.(2545-2547)gcG>gcA p.A849A COAD 9 33927811 33927811 + Silent SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr9:33927811C>T c.2355G>A c.(2353-2355)gcG>gcA p.A785A COAD 9 33927935 33927935 + Nonsense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr9:33927935G>A c.2005C>T c.(2005-2007)Cag>Tag p.Q669* COAD 9 33932606 33932606 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr9:33932606C>T c.2129G>A c.(2128-2130)aGc>aAc p.S710N COAD 9 33933619 33933619 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr9:33933619C>A c.1977G>T c.(1975-1977)aaG>aaT p.K659N COAD 9 33935858 33935858 + Nonsense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr9:33935858G>A c.1948C>T c.(1948-1950)Cga>Tga p.R650* COAD 9 33944369 33944369 + Silent SNP A A T TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr9:33944369A>T c.1539T>A c.(1537-1539)gcT>gcA p.A513A COAD 9 33944453 33944453 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr9:33944453G>A c.1455C>T c.(1453-1455)agC>agT p.S485S COAD 9 33948442 33948442 + Silent SNP A A G TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr9:33948442A>G c.1200T>C c.(1198-1200)agT>agC p.S400S COAD 9 33953307 33953307 + Silent SNP G G T TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr9:33953307G>T c.1032C>A c.(1030-1032)gtC>gtA p.V344V COAD 9 33953309 33953309 + Missense_Mutation SNP C C T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr9:33953309C>T c.1030G>A c.(1030-1032)Gtc>Atc p.V344I COAD 9 33986772 33986772 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:33986772C>T c.506G>A c.(505-507)cGa>cAa p.R169Q COAD 9 34017046 34017046 + Splice_Site SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr9:34017046A>G c.e2+1 COADREAD 9 33922582 33922582 + IGR SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:33922582G>A COADREAD 9 33923251 33923251 + IGR SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:33923251G>A COADREAD 9 33923265 33923265 + IGR SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr9:33923265C>T COADREAD 9 33924247 33924247 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr9:33924247C>T c.2547G>A c.(2545-2547)gcG>gcA p.A849A COADREAD 9 33927811 33927811 + Silent SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr9:33927811C>T c.2355G>A c.(2353-2355)gcG>gcA p.A785A COADREAD 9 33927851 33927851 + Missense_Mutation SNP C C T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr9:33927851C>T c.2315G>A c.(2314-2316)gGg>gAg p.G772E COADREAD 9 33927935 33927935 + Nonsense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr9:33927935G>A c.2005C>T c.(2005-2007)Cag>Tag p.Q669* COADREAD 9 33932606 33932606 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr9:33932606C>T c.2129G>A c.(2128-2130)aGc>aAc p.S710N COADREAD 9 33933619 33933619 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr9:33933619C>A c.1977G>T c.(1975-1977)aaG>aaT p.K659N COADREAD 9 33935858 33935858 + Nonsense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr9:33935858G>A c.1948C>T c.(1948-1950)Cga>Tga p.R650* COADREAD 9 33944369 33944369 + Silent SNP A A T TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr9:33944369A>T c.1539T>A c.(1537-1539)gcT>gcA p.A513A COADREAD 9 33944453 33944453 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr9:33944453G>A c.1455C>T c.(1453-1455)agC>agT p.S485S COADREAD 9 33948442 33948442 + Silent SNP A A G TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr9:33948442A>G c.1200T>C c.(1198-1200)agT>agC p.S400S COADREAD 9 33953307 33953307 + Silent SNP G G T TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr9:33953307G>T c.1032C>A c.(1030-1032)gtC>gtA p.V344V COADREAD 9 33953309 33953309 + Missense_Mutation SNP C C T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr9:33953309C>T c.1030G>A c.(1030-1032)Gtc>Atc p.V344I COADREAD 9 33956100 33956100 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:33956100C>A c.843G>T c.(841-843)gaG>gaT p.E281D COADREAD 9 33986772 33986772 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:33986772C>T c.506G>A c.(505-507)cGa>cAa p.R169Q COADREAD 9 33988990 33988990 + Silent SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr9:33988990G>A c.423C>T c.(421-423)ggC>ggT p.G141G COADREAD 9 34017046 34017046 + Splice_Site SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr9:34017046A>G c.e2+1 COADREAD 9 34017093 34017093 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:34017093C>A c.54G>T c.(52-54)caG>caT p.Q18H DLBC 9 33927880 33927880 + Nonstop_Mutation SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr9:33927880C>G c.2060G>C c.(2059-2061)tGa>tCa p.*687S DLBC 9 33998847 33998847 + Missense_Mutation SNP T T C TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr9:33998847T>C c.115A>G c.(115-117)Atg>Gtg p.M39V ESCA 9 33923379 33923379 + IGR SNP G G C TCGA-LN-A49U-01A-31D-A27G-09 TCGA-LN-A49U-10A-01D-A27G-09 g.chr9:33923379G>C ESCA 9 33927920 33927920 + Nonsense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr9:33927920G>C c.2246C>G c.(2245-2247)tCa>tGa p.S749* ESCA 9 33941666 33941666 + Nonsense_Mutation SNP G G C TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chr9:33941666G>C c.1910C>G c.(1909-1911)tCa>tGa p.S637* ESCA 9 33943548 33943548 + Missense_Mutation SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 g.chr9:33943548C>A c.1585G>T c.(1585-1587)Gtc>Ttc p.V529F ESCA 9 33956094 33956094 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr9:33956094G>T c.849C>A c.(847-849)caC>caA p.H283Q GBMLGG 9 33926987 33926987 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:33926987C>T c.2463G>A c.(2461-2463)ccG>ccA p.P821P GBMLGG 9 33933502 33933502 + Silent SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 g.chr9:33933502G>A c.2094C>T c.(2092-2094)ctC>ctT p.L698L GBMLGG 9 34017093 34017093 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34017093C>A c.54G>T c.(52-54)caG>caT p.Q18H HNSC 9 33922871 33922871 + IGR SNP A A T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr9:33922871A>T HNSC 9 33927875 33927875 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr9:33927875G>A c.2291C>T c.(2290-2292)aCc>aTc p.T764I HNSC 9 33932597 33932597 + Missense_Mutation SNP G G C TCGA-CQ-6219-01A-11D-1912-08 TCGA-CQ-6219-10A-01D-1912-08 g.chr9:33932597G>C c.2138C>G c.(2137-2139)tCt>tGt p.S713C HNSC 9 33933498 33933498 + Nonsense_Mutation SNP G G A TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr9:33933498G>A c.2098C>T c.(2098-2100)Cag>Tag p.Q700* HNSC 9 33933540 33933540 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr9:33933540T>C c.2056A>G c.(2056-2058)Aca>Gca p.T686A HNSC 9 33943473 33943473 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr9:33943473G>T c.1660C>A c.(1660-1662)Cca>Aca p.P554T HNSC 9 33943557 33943560 + Frame_Shift_Del DEL AACC AACC - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr9:33943557_33943560delAACC c.1573_1576delGGTT c.(1573-1578)ggttcafs p.GS525fs HNSC 9 33956091 33956091 + Missense_Mutation SNP G G C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 g.chr9:33956091G>C c.852C>G c.(850-852)atC>atG p.I284M HNSC 9 33956140 33956140 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr9:33956140G>T c.803C>A c.(802-804)tCt>tAt p.S268Y KIPAN 9 33941709 33941709 + Missense_Mutation SNP G G T TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr9:33941709G>T c.1867C>A c.(1867-1869)Cat>Aat p.H623N KIPAN 9 33944463 33944463 + Missense_Mutation SNP T T G TCGA-SX-A7SU-01A-11D-A35Z-10 TCGA-SX-A7SU-10A-01D-A35Z-10 g.chr9:33944463T>G c.1445A>C c.(1444-1446)cAg>cCg p.Q482P KIPAN 9 33986810 33986810 + De_novo_Start_OutOfFrame SNP A A T TCGA-BP-4329-01A-02D-1366-10 TCGA-BP-4329-11A-01D-1366-10 g.chr9:33986810A>T KIPAN 9 33989092 33989092 + Silent SNP C C T TCGA-CJ-4886-01A-01D-1373-10 TCGA-CJ-4886-11A-01D-1373-10 g.chr9:33989092C>T c.321G>A c.(319-321)aaG>aaA p.K107K KIRC 9 33941709 33941709 + Missense_Mutation SNP G G T TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr9:33941709G>T c.1867C>A c.(1867-1869)Cat>Aat p.H623N KIRC 9 33986810 33986810 + De_novo_Start_OutOfFrame SNP A A T TCGA-BP-4329-01A-02D-1366-10 TCGA-BP-4329-11A-01D-1366-10 g.chr9:33986810A>T KIRC 9 33989092 33989092 + Silent SNP C C T TCGA-CJ-4886-01A-01D-1373-10 TCGA-CJ-4886-11A-01D-1373-10 g.chr9:33989092C>T c.321G>A c.(319-321)aaG>aaA p.K107K KIRP 9 33944463 33944463 + Missense_Mutation SNP T T G TCGA-SX-A7SU-01A-11D-A35Z-10 TCGA-SX-A7SU-10A-01D-A35Z-10 g.chr9:33944463T>G c.1445A>C c.(1444-1446)cAg>cCg p.Q482P LGG 9 33926987 33926987 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:33926987C>T c.2463G>A c.(2461-2463)ccG>ccA p.P821P LGG 9 33933502 33933502 + Silent SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 g.chr9:33933502G>A c.2094C>T c.(2092-2094)ctC>ctT p.L698L LGG 9 34017093 34017093 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34017093C>A c.54G>T c.(52-54)caG>caT p.Q18H LIHC 9 33922747 33922747 + IGR SNP A A T TCGA-DD-AAD6-01A-11D-A40R-10 TCGA-DD-AAD6-10A-01D-A40U-10 g.chr9:33922747A>T LIHC 9 33927030 33927030 + Missense_Mutation SNP T T C TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr9:33927030T>C c.2420A>G c.(2419-2421)aAc>aGc p.N807S LIHC 9 33932569 33932569 + Silent SNP C C T TCGA-2Y-A9H6-01A-11D-A38X-10 TCGA-2Y-A9H6-10A-01D-A38X-10 g.chr9:33932569C>T c.2166G>A c.(2164-2166)acG>acA p.T722T LIHC 9 33953474 33953474 + Splice_Site SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr9:33953474T>C c.e12-2 LIHC 9 33971700 33971700 + Missense_Mutation SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr9:33971700T>C c.628A>G c.(628-630)Aca>Gca p.T210A LIHC 9 33996317 33996317 + Silent SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr9:33996317T>C c.192A>G c.(190-192)acA>acG p.T64T LIHC 9 34017099 34017099 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr9:34017099delT c.48delA c.(46-48)aaafs p.K16fs LUAD 9 33923274 33923274 + IGR SNP G G A TCGA-NJ-A4YG-01A-22D-A25L-08 TCGA-NJ-A4YG-10A-01D-A25L-08 g.chr9:33923274G>A LUAD 9 33923972 33923972 + Frame_Shift_Del DEL C C - TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr9:33923972delC c.2617delG c.(2617-2619)gacfs p.D873fs LUAD 9 33923984 33923984 + Missense_Mutation SNP A A C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr9:33923984A>C c.2605T>G c.(2605-2607)Ttt>Gtt p.F869V LUAD 9 33927814 33927814 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr9:33927814G>A c.2352C>T c.(2350-2352)gcC>gcT p.A784A LUAD 9 33927878 33927878 + Missense_Mutation SNP T T C TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr9:33927878T>C c.2288A>G c.(2287-2289)aAc>aGc p.N763S LUAD 9 33941703 33941703 + Missense_Mutation SNP T T C TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr9:33941703T>C c.1873A>G c.(1873-1875)Agg>Ggg p.R625G LUAD 9 33948372 33948372 + Splice_Site SNP C C A TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr9:33948372C>A c.1270G>T c.(1270-1272)Gac>Tac p.D424Y LUAD 9 33953410 33953410 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr9:33953410G>A c.929C>T c.(928-930)tCc>tTc p.S310F LUAD 9 33973196 33973196 + Nonsense_Mutation SNP G G C TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr9:33973196G>C c.560C>G c.(559-561)tCa>tGa p.S187* LUAD 9 33988990 33988990 + Silent SNP G G C TCGA-MP-A4TH-01A-31D-A25L-08 TCGA-MP-A4TH-10A-01D-A25L-08 g.chr9:33988990G>C c.423C>G c.(421-423)ggC>ggG p.G141G LUAD 9 33988994 33988994 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 g.chr9:33988994C>T c.419G>A c.(418-420)aGa>aAa p.R140K LUAD 9 33988994 33988994 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr9:33988994C>T c.419G>A c.(418-420)aGa>aAa p.R140K LUAD 9 33998823 33998823 + Missense_Mutation SNP C C T TCGA-75-6207-01A-11D-1753-08 TCGA-75-6207-10A-01D-1753-08 g.chr9:33998823C>T c.139G>A c.(139-141)Gat>Aat p.D47N LUSC 9 33923422 33923422 + Missense_Mutation SNP G G T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr9:33923422G>T c.2851C>A c.(2851-2853)Ccc>Acc p.P951T LUSC 9 33927889 33927889 + Missense_Mutation SNP G G C TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chr9:33927889G>C c.2051C>G c.(2050-2052)cCa>cGa p.P684R LUSC 9 33948493 33948493 + Silent SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr9:33948493C>A c.1149G>T c.(1147-1149)ccG>ccT p.P383P OV 9 33927935 33927935 + Missense_Mutation SNP G G C TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr9:33927935G>C c.2231C>G c.(2230-2232)gCa>gGa p.A744G OV 9 33953309 33953309 + Missense_Mutation SNP C C T TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 g.chr9:33953309C>T c.1030G>A c.(1030-1032)Gtc>Atc p.V344I OV 9 33986812 33986812 + Missense_Mutation SNP C C G TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 g.chr9:33986812C>G c.466G>C c.(466-468)Gat>Cat p.D156H OV 9 33998843 33998843 + Missense_Mutation SNP C C G TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 g.chr9:33998843C>G c.119G>C c.(118-120)cGt>cCt p.R40P PAAD 9 33922776 33922776 + IGR SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:33922776C>T PAAD 9 33953440 33953440 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:33953440A>G c.899T>C c.(898-900)gTt>gCt p.V300A PAAD 9 33989115 33989115 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 g.chr9:33989115C>T c.298G>A c.(298-300)Gag>Aag p.E100K PAAD 9 34017072 34017072 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:34017072C>T c.75G>A c.(73-75)acG>acA p.T25T PRAD 9 33923389 33923389 + IGR SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr9:33923389C>T PRAD 9 33923825 33923825 + Missense_Mutation SNP G G A TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 g.chr9:33923825G>A c.2764C>T c.(2764-2766)Ccc>Tcc p.P922S PRAD 9 33943522 33943522 + Silent SNP C C A TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 g.chr9:33943522C>A c.1611G>T c.(1609-1611)ggG>ggT p.G537G PRAD 9 33986782 33986782 + Missense_Mutation SNP G G A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 g.chr9:33986782G>A c.496C>T c.(496-498)Cgt>Tgt p.R166C PRAD 9 33989021 33989021 + Missense_Mutation SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 g.chr9:33989021C>T c.392G>A c.(391-393)gGa>gAa p.G131E READ 9 33922582 33922582 + IGR SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:33922582G>A READ 9 33927851 33927851 + Missense_Mutation SNP C C T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr9:33927851C>T c.2315G>A c.(2314-2316)gGg>gAg p.G772E READ 9 33956100 33956100 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:33956100C>A c.843G>T c.(841-843)gaG>gaT p.E281D READ 9 33988990 33988990 + Silent SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr9:33988990G>A c.423C>T c.(421-423)ggC>ggT p.G141G READ 9 34017093 34017093 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:34017093C>A c.54G>T c.(52-54)caG>caT p.Q18H SKCM 9 33923820 33923820 + Missense_Mutation SNP A A T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr9:33923820A>T c.2769T>A c.(2767-2769)agT>agA p.S923R SKCM 9 33944535 33944535 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:33944535G>A c.1373C>T c.(1372-1374)tCc>tTc p.S458F SKCM 9 33956124 33956124 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:33956124G>A c.819C>T c.(817-819)ttC>ttT p.F273F SKCM 9 33960857 33960857 + Nonsense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr9:33960857C>T c.32G>A c.(31-33)tGg>tAg p.W11* SKCM 9 33971691 33971691 + Missense_Mutation SNP C C T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr9:33971691C>T c.637G>A c.(637-639)Gta>Ata p.V213I SKCM 9 33998810 33998810 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr9:33998810G>A c.152C>T c.(151-153)tCa>tTa p.S51L

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 9 33923861 33923861 single base substitution A G downstream_gene_variant BLCA-CN 9 33923861 33923861 single base substitution A G exon_variant BLCA-CN 9 33923861 33923861 single base substitution A G missense_variant Y149H 445T>C BLCA-CN 9 33923861 33923861 single base substitution A G missense_variant Y643H 1927T>C BLCA-CN 9 33923861 33923861 single base substitution A G missense_variant Y665H 1993T>C BLCA-CN 9 33923861 33923861 single base substitution A G missense_variant Y910H 2728T>C BLCA-CN 9 33941837 33941837 single base substitution G C downstream_gene_variant BLCA-CN 9 33941837 33941837 single base substitution G C stop_gained S213* 638C>G BLCA-CN 9 33941837 33941837 single base substitution G C stop_gained S313* 938C>G BLCA-CN 9 33941837 33941837 single base substitution G C stop_gained S335* 1004C>G BLCA-CN 9 33941837 33941837 single base substitution G C stop_gained S527* 1580C>G BLCA-CN 9 33941837 33941837 single base substitution G C stop_gained S580* 1739C>G BLCA-CN 9 33941837 33941837 single base substitution G C upstream_gene_variant BLCA-CN 9 33989072 33989072 single base substitution G A 5_prime_UTR_variant BLCA-CN 9 33989072 33989072 single base substitution G A intron_variant BLCA-CN 9 33989072 33989072 single base substitution G A missense_variant S114L 341C>T BLCA-CN 9 33989072 33989072 single base substitution G A upstream_gene_variant BLCA-US 9 33927842 33927842 single base substitution G A 3_prime_UTR_variant BLCA-US 9 33927842 33927842 single base substitution G A downstream_gene_variant BLCA-US 9 33927842 33927842 single base substitution G A exon_variant BLCA-US 9 33927842 33927842 single base substitution G A missense_variant A14V 41C>T BLCA-US 9 33927842 33927842 single base substitution G A missense_variant A508V 1523C>T BLCA-US 9 33927842 33927842 single base substitution G A missense_variant A530V 1589C>T BLCA-US 9 33927842 33927842 single base substitution G A missense_variant A775V 2324C>T BLCA-US 9 33941739 33941739 single base substitution T C downstream_gene_variant BLCA-US 9 33941739 33941739 single base substitution T C missense_variant M246V 736A>G BLCA-US 9 33941739 33941739 single base substitution T C missense_variant M346V 1036A>G BLCA-US 9 33941739 33941739 single base substitution T C missense_variant M368V 1102A>G BLCA-US 9 33941739 33941739 single base substitution T C missense_variant M560V 1678A>G BLCA-US 9 33941739 33941739 single base substitution T C missense_variant M613V 1837A>G BLCA-US 9 33941739 33941739 single base substitution T C upstream_gene_variant BLCA-US 9 33943441 33943441 single base substitution G A downstream_gene_variant BLCA-US 9 33943441 33943441 single base substitution G A synonymous_variant I197I 591C>T BLCA-US 9 33943441 33943441 single base substitution G A synonymous_variant I297I 891C>T BLCA-US 9 33943441 33943441 single base substitution G A synonymous_variant I319I 957C>T BLCA-US 9 33943441 33943441 single base substitution G A synonymous_variant I511I 1533C>T BLCA-US 9 33943441 33943441 single base substitution G A synonymous_variant I564I 1692C>T BLCA-US 9 33943441 33943441 single base substitution G A upstream_gene_variant BLCA-US 9 33948389 33948389 single base substitution G T exon_variant BLCA-US 9 33948389 33948389 single base substitution G T stop_gained S151* 452C>A BLCA-US 9 33948389 33948389 single base substitution G T stop_gained S173* 518C>A BLCA-US 9 33948389 33948389 single base substitution G T stop_gained S272* 815C>A BLCA-US 9 33948389 33948389 single base substitution G T stop_gained S365* 1094C>A BLCA-US 9 33948389 33948389 single base substitution G T stop_gained S418* 1253C>A BLCA-US 9 33948389 33948389 single base substitution G T stop_gained S51* 152C>A BLCA-US 9 33998823 33998823 single base substitution C G 5_prime_UTR_variant BLCA-US 9 33998823 33998823 single base substitution C G exon_variant BLCA-US 9 33998823 33998823 single base substitution C G missense_variant D47H 139G>C BLCA-US 9 33998823 33998823 single base substitution C G missense_variant D9H 25G>C BLCA-US 9 34017107 34017107 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 9 34017107 34017107 single base substitution G A exon_variant BLCA-US 9 34017107 34017107 single base substitution G A intron_variant BLCA-US 9 34017107 34017107 single base substitution G A missense_variant R14W 40C>T BOCA-FR 9 33923611 33923611 single base substitution C T downstream_gene_variant BOCA-FR 9 33923611 33923611 single base substitution C T intron_variant BRCA-EU 9 33919714 33919714 single base substitution G C downstream_gene_variant BRCA-EU 9 33920159 33920159 single base substitution T C downstream_gene_variant BRCA-EU 9 33922084 33922084 single base substitution G C 3_prime_UTR_variant BRCA-EU 9 33922084 33922084 single base substitution G C downstream_gene_variant BRCA-EU 9 33922084 33922084 single base substitution G C intron_variant BRCA-EU 9 33922298 33922298 insertion of <=200bp - C 3_prime_UTR_variant BRCA-EU 9 33922298 33922298 insertion of <=200bp - CC 3_prime_UTR_variant BRCA-EU 9 33922298 33922298 insertion of <=200bp - CC downstream_gene_variant BRCA-EU 9 33922298 33922298 insertion of <=200bp - CC intron_variant BRCA-EU 9 33922298 33922298 insertion of <=200bp - C downstream_gene_variant BRCA-EU 9 33922298 33922298 insertion of <=200bp - C intron_variant BRCA-EU 9 33923952 33923952 single base substitution G A downstream_gene_variant BRCA-EU 9 33923952 33923952 single base substitution G A exon_variant BRCA-EU 9 33923952 33923952 single base substitution G A synonymous_variant P118P 354C>T BRCA-EU 9 33923952 33923952 single base substitution G A synonymous_variant P612P 1836C>T BRCA-EU 9 33923952 33923952 single base substitution G A synonymous_variant P634P 1902C>T BRCA-EU 9 33923952 33923952 single base substitution G A synonymous_variant P879P 2637C>T BRCA-EU 9 33924386 33924386 single base substitution T G downstream_gene_variant BRCA-EU 9 33924386 33924386 single base substitution T G intron_variant BRCA-EU 9 33924471 33924471 single base substitution A G downstream_gene_variant BRCA-EU 9 33924471 33924471 single base substitution A G intron_variant BRCA-EU 9 33924786 33924786 single base substitution G A downstream_gene_variant BRCA-EU 9 33924786 33924786 single base substitution G A intron_variant BRCA-EU 9 33928050 33928050 single base substitution G T 5_prime_UTR_variant BRCA-EU 9 33928050 33928050 single base substitution G T intron_variant BRCA-EU 9 33928641 33928641 single base substitution C T 5_prime_UTR_variant BRCA-EU 9 33928641 33928641 single base substitution C T intron_variant BRCA-EU 9 33931347 33931347 single base substitution A G downstream_gene_variant BRCA-EU 9 33931347 33931347 single base substitution A G intron_variant BRCA-EU 9 33931347 33931347 single base substitution A G upstream_gene_variant BRCA-EU 9 33932122 33932122 single base substitution C A downstream_gene_variant BRCA-EU 9 33932122 33932122 single base substitution C A intron_variant BRCA-EU 9 33932122 33932122 single base substitution C A upstream_gene_variant BRCA-EU 9 33934606 33934606 single base substitution A G downstream_gene_variant BRCA-EU 9 33934606 33934606 single base substitution A G intron_variant BRCA-EU 9 33934606 33934606 single base substitution A G upstream_gene_variant BRCA-EU 9 33934634 33934634 single base substitution G T downstream_gene_variant BRCA-EU 9 33934634 33934634 single base substitution G T intron_variant BRCA-EU 9 33934634 33934634 single base substitution G T upstream_gene_variant BRCA-EU 9 33934949 33934949 single base substitution A G downstream_gene_variant BRCA-EU 9 33934949 33934949 single base substitution A G intron_variant BRCA-EU 9 33934949 33934949 single base substitution A G upstream_gene_variant BRCA-EU 9 33937031 33937031 single base substitution A T intron_variant BRCA-EU 9 33937031 33937031 single base substitution A T upstream_gene_variant BRCA-EU 9 33938640 33938640 single base substitution C T intron_variant BRCA-EU 9 33938640 33938640 single base substitution C T upstream_gene_variant BRCA-EU 9 33940510 33940510 single base substitution C T downstream_gene_variant BRCA-EU 9 33940510 33940510 single base substitution C T intron_variant BRCA-EU 9 33941133 33941133 single base substitution G A downstream_gene_variant BRCA-EU 9 33941133 33941133 single base substitution G A intron_variant BRCA-EU 9 33941189 33941189 single base substitution C G downstream_gene_variant BRCA-EU 9 33941189 33941189 single base substitution C G intron_variant BRCA-EU 9 33941203 33941203 single base substitution G C downstream_gene_variant BRCA-EU 9 33941203 33941203 single base substitution G C intron_variant BRCA-EU 9 33943456 33943456 single base substitution A G downstream_gene_variant BRCA-EU 9 33943456 33943456 single base substitution A G synonymous_variant S192S 576T>C BRCA-EU 9 33943456 33943456 single base substitution A G synonymous_variant S292S 876T>C BRCA-EU 9 33943456 33943456 single base substitution A G synonymous_variant S314S 942T>C BRCA-EU 9 33943456 33943456 single base substitution A G synonymous_variant S506S 1518T>C BRCA-EU 9 33943456 33943456 single base substitution A G synonymous_variant S559S 1677T>C BRCA-EU 9 33943456 33943456 single base substitution A G upstream_gene_variant BRCA-EU 9 33947038 33947038 single base substitution A T downstream_gene_variant BRCA-EU 9 33947038 33947038 single base substitution A T intron_variant BRCA-EU 9 33950359 33950359 single base substitution G A intron_variant BRCA-EU 9 33950359 33950359 single base substitution G A upstream_gene_variant BRCA-EU 9 33953561 33953561 single base substitution T C intron_variant BRCA-EU 9 33953561 33953561 single base substitution T C upstream_gene_variant BRCA-EU 9 33954251 33954251 single base substitution T A intron_variant BRCA-EU 9 33957420 33957420 single base substitution C T intron_variant BRCA-EU 9 33958828 33958828 single base substitution C T intron_variant BRCA-EU 9 33959628 33959628 single base substitution G A intron_variant BRCA-EU 9 33960705 33960705 single base substitution G C intron_variant BRCA-EU 9 33961560 33961560 single base substitution A T intron_variant BRCA-EU 9 33961866 33961866 single base substitution G C intron_variant BRCA-EU 9 33962326 33962326 insertion of <=200bp - C intron_variant BRCA-EU 9 33962713 33962713 single base substitution G T intron_variant BRCA-EU 9 33962948 33962948 single base substitution G A intron_variant BRCA-EU 9 33963148 33963148 single base substitution A C intron_variant BRCA-EU 9 33963245 33963245 single base substitution T C intron_variant BRCA-EU 9 33965444 33965444 single base substitution G C intron_variant BRCA-EU 9 33965444 33965444 single base substitution G C upstream_gene_variant BRCA-EU 9 33965823 33965823 single base substitution G C intron_variant BRCA-EU 9 33965823 33965823 single base substitution G C upstream_gene_variant BRCA-EU 9 33966901 33966901 single base substitution T A intron_variant BRCA-EU 9 33966901 33966901 single base substitution T A upstream_gene_variant BRCA-EU 9 33967176 33967176 single base substitution T C intron_variant BRCA-EU 9 33967176 33967176 single base substitution T C upstream_gene_variant BRCA-EU 9 33968643 33968674 deletion of <=200bp TAATTTTGTTAAATGGATAATACTAATTTCTA - intron_variant BRCA-EU 9 33968643 33968674 deletion of <=200bp TAATTTTGTTAAATGGATAATACTAATTTCTA - upstream_gene_variant BRCA-EU 9 33968779 33968779 single base substitution T C intron_variant BRCA-EU 9 33968779 33968779 single base substitution T C upstream_gene_variant BRCA-EU 9 33970334 33970334 single base substitution C G intron_variant BRCA-EU 9 33971238 33971238 single base substitution G A intron_variant BRCA-EU 9 33971632 33971632 single base substitution A T intron_variant BRCA-EU 9 33972593 33972593 single base substitution T C intron_variant BRCA-EU 9 33974638 33974638 single base substitution C T intron_variant BRCA-EU 9 33975878 33975878 single base substitution G C intron_variant BRCA-EU 9 33976313 33976313 single base substitution G T intron_variant BRCA-EU 9 33978904 33978904 single base substitution T A intron_variant BRCA-EU 9 33979407 33979407 single base substitution C G intron_variant BRCA-EU 9 33980022 33980022 single base substitution G A intron_variant BRCA-EU 9 33980336 33980336 single base substitution T C intron_variant BRCA-EU 9 33980754 33980754 single base substitution G T intron_variant BRCA-EU 9 33982173 33982173 single base substitution T A intron_variant BRCA-EU 9 33982520 33982520 single base substitution C T intron_variant BRCA-EU 9 33982639 33982639 single base substitution G A intron_variant BRCA-EU 9 33982881 33982881 insertion of <=200bp - G intron_variant BRCA-EU 9 33983212 33983212 single base substitution G A intron_variant BRCA-EU 9 33984281 33984281 single base substitution G A intron_variant BRCA-EU 9 33989866 33989866 single base substitution A G downstream_gene_variant BRCA-EU 9 33989866 33989866 single base substitution A G intron_variant BRCA-EU 9 33989866 33989866 single base substitution A G upstream_gene_variant BRCA-EU 9 33991878 33991878 single base substitution C T downstream_gene_variant BRCA-EU 9 33991878 33991878 single base substitution C T intron_variant BRCA-EU 9 33991878 33991878 single base substitution C T upstream_gene_variant BRCA-EU 9 33991987 33991987 single base substitution C G downstream_gene_variant BRCA-EU 9 33991987 33991987 single base substitution C G intron_variant BRCA-EU 9 33991987 33991987 single base substitution C G upstream_gene_variant BRCA-EU 9 33992119 33992119 single base substitution G C downstream_gene_variant BRCA-EU 9 33992119 33992119 single base substitution G C intron_variant BRCA-EU 9 33992119 33992119 single base substitution G C upstream_gene_variant BRCA-EU 9 33992816 33992816 single base substitution G C downstream_gene_variant BRCA-EU 9 33992816 33992816 single base substitution G C intron_variant BRCA-EU 9 33992816 33992816 single base substitution G C upstream_gene_variant BRCA-EU 9 33993374 33993374 single base substitution G A downstream_gene_variant BRCA-EU 9 33993374 33993374 single base substitution G A intron_variant BRCA-EU 9 33993374 33993374 single base substitution G A upstream_gene_variant BRCA-EU 9 33994090 33994090 single base substitution C T downstream_gene_variant BRCA-EU 9 33994090 33994090 single base substitution C T intron_variant BRCA-EU 9 33994268 33994268 single base substitution C G downstream_gene_variant BRCA-EU 9 33994268 33994268 single base substitution C G intron_variant BRCA-EU 9 33994401 33994401 deletion of <=200bp G - downstream_gene_variant BRCA-EU 9 33994401 33994401 deletion of <=200bp G - intron_variant BRCA-EU 9 33995019 33995019 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 33995019 33995019 deletion of <=200bp T - exon_variant BRCA-EU 9 33995019 33995019 deletion of <=200bp T - intron_variant BRCA-EU 9 33995027 33995027 single base substitution T A downstream_gene_variant BRCA-EU 9 33995027 33995027 single base substitution T A exon_variant BRCA-EU 9 33995027 33995027 single base substitution T A intron_variant BRCA-EU 9 33995881 33995881 single base substitution A T downstream_gene_variant BRCA-EU 9 33995881 33995881 single base substitution A T exon_variant BRCA-EU 9 33995881 33995881 single base substitution A T intron_variant BRCA-EU 9 33996595 33996595 single base substitution A G exon_variant BRCA-EU 9 33996595 33996595 single base substitution A G intron_variant BRCA-EU 9 33996835 33996835 single base substitution C T exon_variant BRCA-EU 9 33996835 33996835 single base substitution C T intron_variant BRCA-EU 9 33998049 33998049 single base substitution G T exon_variant BRCA-EU 9 33998049 33998049 single base substitution G T intron_variant BRCA-EU 9 33998400 33998400 deletion of <=200bp A - exon_variant BRCA-EU 9 33998400 33998400 deletion of <=200bp A - intron_variant BRCA-EU 9 33998622 33998622 single base substitution T C exon_variant BRCA-EU 9 33998622 33998622 single base substitution T C intron_variant BRCA-EU 9 34001806 34001806 single base substitution G A intron_variant BRCA-EU 9 34001917 34001917 single base substitution T C intron_variant BRCA-EU 9 34002127 34002127 single base substitution A G intron_variant BRCA-EU 9 34002548 34002548 single base substitution G C intron_variant BRCA-EU 9 34002617 34002617 single base substitution G A intron_variant BRCA-EU 9 34003983 34003983 single base substitution G A intron_variant BRCA-EU 9 34008731 34008731 single base substitution G A intron_variant BRCA-EU 9 34009512 34009512 single base substitution C A intron_variant BRCA-EU 9 34010011 34010011 single base substitution G A intron_variant BRCA-EU 9 34010033 34010033 single base substitution G A intron_variant BRCA-EU 9 34010771 34010771 single base substitution A T intron_variant BRCA-EU 9 34011255 34011255 single base substitution G A intron_variant BRCA-EU 9 34013312 34013312 single base substitution C T intron_variant BRCA-EU 9 34014635 34014635 deletion of <=200bp A - intron_variant BRCA-EU 9 34014656 34014656 single base substitution G T intron_variant BRCA-EU 9 34015600 34015600 single base substitution C G intron_variant BRCA-EU 9 34016467 34016467 single base substitution C T intron_variant BRCA-EU 9 34016752 34016752 single base substitution C G intron_variant BRCA-EU 9 34017212 34017212 deletion of <=200bp C - intron_variant BRCA-EU 9 34017685 34017685 single base substitution G A intron_variant BRCA-EU 9 34020077 34020077 single base substitution G C intron_variant BRCA-EU 9 34020783 34020783 single base substitution G A intron_variant BRCA-EU 9 34020882 34020882 single base substitution G A intron_variant BRCA-EU 9 34023032 34023032 single base substitution G C intron_variant BRCA-EU 9 34025935 34025935 single base substitution G A intron_variant BRCA-EU 9 34025992 34025992 single base substitution C G intron_variant BRCA-EU 9 34026173 34026173 single base substitution G C intron_variant BRCA-EU 9 34026507 34026507 single base substitution A C intron_variant BRCA-EU 9 34028310 34028310 single base substitution G C intron_variant BRCA-EU 9 34028734 34028734 single base substitution G C intron_variant BRCA-EU 9 34030811 34030811 single base substitution C G intron_variant BRCA-EU 9 34033979 34033979 single base substitution C T intron_variant BRCA-EU 9 34034778 34034778 single base substitution G C intron_variant BRCA-EU 9 34037280 34037280 single base substitution C A intron_variant BRCA-EU 9 34038531 34038531 single base substitution C T intron_variant BRCA-EU 9 34039271 34039271 deletion of <=200bp G - intron_variant BRCA-EU 9 34040703 34040703 single base substitution T C intron_variant BRCA-EU 9 34044124 34044124 single base substitution G A intron_variant BRCA-EU 9 34045283 34045283 single base substitution G C intron_variant BRCA-EU 9 34046377 34046377 single base substitution G T intron_variant BRCA-EU 9 34046958 34046958 single base substitution C T intron_variant BRCA-EU 9 34048575 34048575 single base substitution G C intron_variant BRCA-EU 9 34052368 34052368 single base substitution C T upstream_gene_variant BRCA-EU 9 34052764 34052764 deletion of <=200bp A - upstream_gene_variant BRCA-EU 9 34053539 34053539 single base substitution T A upstream_gene_variant BRCA-EU 9 34053845 34053845 single base substitution G A upstream_gene_variant BRCA-FR 9 33919714 33919714 single base substitution G C downstream_gene_variant BRCA-FR 9 33923351 33923351 single base substitution G A downstream_gene_variant BRCA-FR 9 33923351 33923351 single base substitution G A intron_variant BRCA-FR 9 33924471 33924471 single base substitution A G downstream_gene_variant BRCA-FR 9 33924471 33924471 single base substitution A G intron_variant BRCA-FR 9 33926013 33926013 single base substitution C G downstream_gene_variant BRCA-FR 9 33926013 33926013 single base substitution C G intron_variant BRCA-FR 9 33941133 33941133 single base substitution G A downstream_gene_variant BRCA-FR 9 33941133 33941133 single base substitution G A intron_variant BRCA-FR 9 33959628 33959628 single base substitution G A intron_variant BRCA-FR 9 33963148 33963148 single base substitution A C intron_variant BRCA-FR 9 33975878 33975878 single base substitution G C intron_variant BRCA-FR 9 33978794 33978794 single base substitution G C intron_variant BRCA-FR 9 33992816 33992816 single base substitution G C downstream_gene_variant BRCA-FR 9 33992816 33992816 single base substitution G C intron_variant BRCA-FR 9 33992816 33992816 single base substitution G C upstream_gene_variant BRCA-FR 9 33994268 33994268 single base substitution C G downstream_gene_variant BRCA-FR 9 33994268 33994268 single base substitution C G intron_variant BRCA-FR 9 34008731 34008731 single base substitution G A intron_variant BRCA-FR 9 34020882 34020882 single base substitution G A intron_variant BRCA-FR 9 34026173 34026173 single base substitution G C intron_variant BRCA-FR 9 34045580 34045580 single base substitution T C intron_variant BRCA-FR 9 34046299 34046299 single base substitution A T intron_variant BRCA-FR 9 34048575 34048575 single base substitution G C intron_variant BRCA-FR 9 34052368 34052368 single base substitution C T upstream_gene_variant BRCA-UK 9 33972388 33972401 deletion of <=200bp TGCTCCTGAGAGTT - intron_variant BRCA-UK 9 34013312 34013312 single base substitution C T intron_variant BRCA-US 9 33922571 33922571 deletion of <=200bp G - downstream_gene_variant BRCA-US 9 33922571 33922571 deletion of <=200bp G - frameshift_variant P1097 BRCA-US 9 33922571 33922571 deletion of <=200bp G - frameshift_variant P336 BRCA-US 9 33922571 33922571 deletion of <=200bp G - frameshift_variant P830 BRCA-US 9 33922571 33922571 deletion of <=200bp G - frameshift_variant P852 BRCA-US 9 33923840 33923840 insertion of <=200bp - GGG downstream_gene_variant BRCA-US 9 33923840 33923840 insertion of <=200bp - GGG exon_variant BRCA-US 9 33923840 33923840 insertion of <=200bp - GGG inframe_insertion Y156SH BRCA-US 9 33923840 33923840 insertion of <=200bp - GGG inframe_insertion Y650SH BRCA-US 9 33923840 33923840 insertion of <=200bp - GGG inframe_insertion Y672SH BRCA-US 9 33923840 33923840 insertion of <=200bp - GGG inframe_insertion Y917SH BRCA-US 9 33923949 33923949 single base substitution A C downstream_gene_variant BRCA-US 9 33923949 33923949 single base substitution A C exon_variant BRCA-US 9 33923949 33923949 single base substitution A C synonymous_variant A119A 357T>G BRCA-US 9 33923949 33923949 single base substitution A C synonymous_variant A613A 1839T>G BRCA-US 9 33923949 33923949 single base substitution A C synonymous_variant A635A 1905T>G BRCA-US 9 33923949 33923949 single base substitution A C synonymous_variant A880A 2640T>G BRCA-US 9 33923997 33923997 single base substitution A C downstream_gene_variant BRCA-US 9 33923997 33923997 single base substitution A C splice_region_variant BRCA-US 9 33934266 33934266 single base substitution A T downstream_gene_variant BRCA-US 9 33934266 33934266 single base substitution A T exon_variant BRCA-US 9 33934266 33934266 single base substitution A T intron_variant BRCA-US 9 33935736 33935736 single base substitution A G intron_variant BRCA-US 9 33935736 33935736 single base substitution A G synonymous_variant L323L 969T>C BRCA-US 9 33935736 33935736 single base substitution A G upstream_gene_variant BRCA-US 9 33935827 33935827 single base substitution C T intron_variant BRCA-US 9 33935827 33935827 single base substitution C T missense_variant S293N 878G>A BRCA-US 9 33935827 33935827 single base substitution C T upstream_gene_variant BRCA-US 9 33941794 33941794 single base substitution G A downstream_gene_variant BRCA-US 9 33941794 33941794 single base substitution G A synonymous_variant V227V 681C>T BRCA-US 9 33941794 33941794 single base substitution G A synonymous_variant V327V 981C>T BRCA-US 9 33941794 33941794 single base substitution G A synonymous_variant V349V 1047C>T BRCA-US 9 33941794 33941794 single base substitution G A synonymous_variant V541V 1623C>T BRCA-US 9 33941794 33941794 single base substitution G A synonymous_variant V594V 1782C>T BRCA-US 9 33941794 33941794 single base substitution G A upstream_gene_variant BRCA-US 9 33944419 33944419 single base substitution G A downstream_gene_variant BRCA-US 9 33944419 33944419 single base substitution G A stop_gained Q130* 388C>T BRCA-US 9 33944419 33944419 single base substitution G A stop_gained Q230* 688C>T BRCA-US 9 33944419 33944419 single base substitution G A stop_gained Q252* 754C>T BRCA-US 9 33944419 33944419 single base substitution G A stop_gained Q444* 1330C>T BRCA-US 9 33944419 33944419 single base substitution G A stop_gained Q497* 1489C>T BRCA-US 9 33944419 33944419 single base substitution G A upstream_gene_variant BRCA-US 9 33948440 33948440 single base substitution T G exon_variant BRCA-US 9 33948440 33948440 single base substitution T G missense_variant H134P 401A>C BRCA-US 9 33948440 33948440 single base substitution T G missense_variant H156P 467A>C BRCA-US 9 33948440 33948440 single base substitution T G missense_variant H255P 764A>C BRCA-US 9 33948440 33948440 single base substitution T G missense_variant H348P 1043A>C BRCA-US 9 33948440 33948440 single base substitution T G missense_variant H34P 101A>C BRCA-US 9 33948440 33948440 single base substitution T G missense_variant H401P 1202A>C BRCA-US 9 33973198 33973198 single base substitution G C intron_variant BRCA-US 9 33973198 33973198 single base substitution G C missense_variant F186L 558C>G BRCA-US 9 33973198 33973198 single base substitution G C missense_variant F62L 186C>G BRCA-US 9 33989072 33989072 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 9 33989072 33989072 single base substitution G C intron_variant BRCA-US 9 33989072 33989072 single base substitution G C stop_gained S114* 341C>G BRCA-US 9 33989072 33989072 single base substitution G C upstream_gene_variant BTCA-JP 9 33922987 33922987 single base substitution C G downstream_gene_variant BTCA-JP 9 33922987 33922987 single base substitution C G missense_variant G1017R 3049G>C BTCA-JP 9 33922987 33922987 single base substitution C G missense_variant G256R 766G>C BTCA-JP 9 33922987 33922987 single base substitution C G missense_variant G750R 2248G>C BTCA-JP 9 33922987 33922987 single base substitution C G missense_variant G772R 2314G>C BTCA-JP 9 33924419 33924419 single base substitution C T downstream_gene_variant BTCA-JP 9 33924419 33924419 single base substitution C T intron_variant BTCA-JP 9 33926562 33926562 single base substitution G A downstream_gene_variant BTCA-JP 9 33926562 33926562 single base substitution G A intron_variant BTCA-JP 9 33926815 33926815 single base substitution G A downstream_gene_variant BTCA-JP 9 33926815 33926815 single base substitution G A intron_variant BTCA-JP 9 33944644 33944644 insertion of <=200bp - AT downstream_gene_variant BTCA-JP 9 33944644 33944644 insertion of <=200bp - AT intron_variant BTCA-JP 9 33944644 33944644 insertion of <=200bp - AT splice_region_variant BTCA-JP 9 33944644 33944644 insertion of <=200bp - AT upstream_gene_variant BTCA-JP 9 33960946 33960946 single base substitution T C intron_variant BTCA-JP 9 33996311 33996311 single base substitution T A 5_prime_UTR_variant BTCA-JP 9 33996311 33996311 single base substitution T A downstream_gene_variant BTCA-JP 9 33996311 33996311 single base substitution T A exon_variant BTCA-JP 9 33996311 33996311 single base substitution T A intron_variant BTCA-JP 9 33996311 33996311 single base substitution T A missense_variant K66N 198A>T CESC-US 9 33922521 33922521 single base substitution G A downstream_gene_variant CESC-US 9 33922521 33922521 single base substitution G A missense_variant S1114F 3341C>T CESC-US 9 33922521 33922521 single base substitution G A missense_variant S353F 1058C>T CESC-US 9 33922521 33922521 single base substitution G A missense_variant S847F 2540C>T CESC-US 9 33922521 33922521 single base substitution G A missense_variant S869F 2606C>T CESC-US 9 33922757 33922757 single base substitution G C downstream_gene_variant CESC-US 9 33922757 33922757 single base substitution G C missense_variant F1064L 3192C>G CESC-US 9 33922757 33922757 single base substitution G C missense_variant F303L 909C>G CESC-US 9 33922757 33922757 single base substitution G C missense_variant F797L 2391C>G CESC-US 9 33922757 33922757 single base substitution G C missense_variant F819L 2457C>G CESC-US 9 33953364 33953364 single base substitution G A exon_variant CESC-US 9 33953364 33953364 single base substitution G A synonymous_variant F179F 537C>T CESC-US 9 33953364 33953364 single base substitution G A synonymous_variant F272F 816C>T CESC-US 9 33953364 33953364 single base substitution G A synonymous_variant F325F 975C>T CESC-US 9 33953364 33953364 single base substitution G A synonymous_variant F58F 174C>T CESC-US 9 33953364 33953364 single base substitution G A synonymous_variant F80F 240C>T CESC-US 9 33953364 33953364 single base substitution G A upstream_gene_variant CESC-US 9 33996307 33996307 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 9 33996307 33996307 single base substitution G C downstream_gene_variant CESC-US 9 33996307 33996307 single base substitution G C exon_variant CESC-US 9 33996307 33996307 single base substitution G C intron_variant CESC-US 9 33996307 33996307 single base substitution G C missense_variant Q68E 202C>G CLLE-ES 9 33917499 33917499 single base substitution A G downstream_gene_variant CLLE-ES 9 33951602 33951602 single base substitution C T intron_variant CLLE-ES 9 33951602 33951602 single base substitution C T upstream_gene_variant CLLE-ES 9 33966140 33966140 single base substitution A C intron_variant CLLE-ES 9 33966140 33966140 single base substitution A C upstream_gene_variant CLLE-ES 9 33978062 33978062 single base substitution A G intron_variant CLLE-ES 9 33981294 33981294 single base substitution A T intron_variant CLLE-ES 9 33999932 33999932 single base substitution C A intron_variant CLLE-ES 9 34003787 34003787 single base substitution T C intron_variant CLLE-ES 9 34004260 34004260 single base substitution T C intron_variant CLLE-ES 9 34004341 34004341 single base substitution A G intron_variant CLLE-ES 9 34012466 34012466 single base substitution T C intron_variant CLLE-ES 9 34034473 34034473 single base substitution A C intron_variant CLLE-ES 9 34050552 34050552 single base substitution T C upstream_gene_variant CLLE-ES 9 34052518 34052518 single base substitution C G upstream_gene_variant COAD-US 9 33923015 33923015 single base substitution T A downstream_gene_variant COAD-US 9 33923015 33923015 single base substitution T A synonymous_variant S1007S 3021A>T COAD-US 9 33923015 33923015 single base substitution T A synonymous_variant S246S 738A>T COAD-US 9 33923015 33923015 single base substitution T A synonymous_variant S740S 2220A>T COAD-US 9 33923015 33923015 single base substitution T A synonymous_variant S762S 2286A>T COAD-US 9 33923251 33923251 single base substitution G A downstream_gene_variant COAD-US 9 33923251 33923251 single base substitution G A synonymous_variant Y218Y 654C>T COAD-US 9 33923251 33923251 single base substitution G A synonymous_variant Y712Y 2136C>T COAD-US 9 33923251 33923251 single base substitution G A synonymous_variant Y734Y 2202C>T COAD-US 9 33923251 33923251 single base substitution G A synonymous_variant Y979Y 2937C>T COAD-US 9 33927811 33927811 single base substitution C T 3_prime_UTR_variant COAD-US 9 33927811 33927811 single base substitution C T downstream_gene_variant COAD-US 9 33927811 33927811 single base substitution C T exon_variant COAD-US 9 33927811 33927811 single base substitution C T synonymous_variant A24A 72G>A COAD-US 9 33927811 33927811 single base substitution C T synonymous_variant A518A 1554G>A COAD-US 9 33927811 33927811 single base substitution C T synonymous_variant A540A 1620G>A COAD-US 9 33927811 33927811 single base substitution C T synonymous_variant A785A 2355G>A COAD-US 9 33935858 33935858 single base substitution G A exon_variant COAD-US 9 33935858 33935858 single base substitution G A stop_gained R283* 847C>T COAD-US 9 33935858 33935858 single base substitution G A stop_gained R383* 1147C>T COAD-US 9 33935858 33935858 single base substitution G A stop_gained R405* 1213C>T COAD-US 9 33935858 33935858 single base substitution G A stop_gained R597* 1789C>T COAD-US 9 33935858 33935858 single base substitution G A stop_gained R650* 1948C>T COAD-US 9 33935858 33935858 single base substitution G A upstream_gene_variant COAD-US 9 33941759 33941759 single base substitution T C downstream_gene_variant COAD-US 9 33941759 33941759 single base substitution T C missense_variant N239S 716A>G COAD-US 9 33941759 33941759 single base substitution T C missense_variant N339S 1016A>G COAD-US 9 33941759 33941759 single base substitution T C missense_variant N361S 1082A>G COAD-US 9 33941759 33941759 single base substitution T C missense_variant N553S 1658A>G COAD-US 9 33941759 33941759 single base substitution T C missense_variant N606S 1817A>G COAD-US 9 33941759 33941759 single base substitution T C upstream_gene_variant COAD-US 9 33944369 33944369 single base substitution A T downstream_gene_variant COAD-US 9 33944369 33944369 single base substitution A T synonymous_variant A146A 438T>A COAD-US 9 33944369 33944369 single base substitution A T synonymous_variant A246A 738T>A COAD-US 9 33944369 33944369 single base substitution A T synonymous_variant A268A 804T>A COAD-US 9 33944369 33944369 single base substitution A T synonymous_variant A460A 1380T>A COAD-US 9 33944369 33944369 single base substitution A T synonymous_variant A513A 1539T>A COAD-US 9 33944369 33944369 single base substitution A T upstream_gene_variant COAD-US 9 33944453 33944453 single base substitution G A downstream_gene_variant COAD-US 9 33944453 33944453 single base substitution G A synonymous_variant S118S 354C>T COAD-US 9 33944453 33944453 single base substitution G A synonymous_variant S218S 654C>T COAD-US 9 33944453 33944453 single base substitution G A synonymous_variant S240S 720C>T COAD-US 9 33944453 33944453 single base substitution G A synonymous_variant S432S 1296C>T COAD-US 9 33944453 33944453 single base substitution G A synonymous_variant S485S 1455C>T COAD-US 9 33944453 33944453 single base substitution G A upstream_gene_variant COAD-US 9 33944640 33944640 deletion of <=200bp A - downstream_gene_variant COAD-US 9 33944640 33944640 deletion of <=200bp A - intron_variant COAD-US 9 33944640 33944640 deletion of <=200bp A - splice_region_variant COAD-US 9 33944640 33944640 deletion of <=200bp A - upstream_gene_variant COAD-US 9 33948442 33948442 single base substitution A G exon_variant COAD-US 9 33948442 33948442 single base substitution A G synonymous_variant S133S 399T>C COAD-US 9 33948442 33948442 single base substitution A G synonymous_variant S155S 465T>C COAD-US 9 33948442 33948442 single base substitution A G synonymous_variant S254S 762T>C COAD-US 9 33948442 33948442 single base substitution A G synonymous_variant S33S 99T>C COAD-US 9 33948442 33948442 single base substitution A G synonymous_variant S347S 1041T>C COAD-US 9 33948442 33948442 single base substitution A G synonymous_variant S400S 1200T>C COAD-US 9 33986772 33986772 single base substitution C T 5_prime_UTR_variant COAD-US 9 33986772 33986772 single base substitution C T intron_variant COAD-US 9 33986772 33986772 single base substitution C T missense_variant R169Q 506G>A COAD-US 9 33986772 33986772 single base substitution C T missense_variant R45Q 134G>A COAD-US 9 34017046 34017046 single base substitution A G intron_variant COAD-US 9 34017046 34017046 single base substitution A G splice_donor_variant COAD-US 9 34017106 34017106 single base substitution C T 5_prime_UTR_variant COAD-US 9 34017106 34017106 single base substitution C T exon_variant COAD-US 9 34017106 34017106 single base substitution C T intron_variant COAD-US 9 34017106 34017106 single base substitution C T missense_variant R14Q 41G>A COCA-CN 9 33923225 33923225 single base substitution G A downstream_gene_variant COCA-CN 9 33923225 33923225 single base substitution G A missense_variant S227L 680C>T COCA-CN 9 33923225 33923225 single base substitution G A missense_variant S721L 2162C>T COCA-CN 9 33923225 33923225 single base substitution G A missense_variant S743L 2228C>T COCA-CN 9 33923225 33923225 single base substitution G A missense_variant S988L 2963C>T COCA-CN 9 33923389 33923389 single base substitution C T downstream_gene_variant COCA-CN 9 33923389 33923389 single base substitution C T missense_variant G201S 601G>A COCA-CN 9 33923389 33923389 single base substitution C T missense_variant G695S 2083G>A COCA-CN 9 33923389 33923389 single base substitution C T missense_variant G717S 2149G>A COCA-CN 9 33923389 33923389 single base substitution C T missense_variant G962S 2884G>A COCA-CN 9 33926559 33926559 single base substitution G A downstream_gene_variant COCA-CN 9 33926559 33926559 single base substitution G A intron_variant COCA-CN 9 33927194 33927194 single base substitution G A downstream_gene_variant COCA-CN 9 33927194 33927194 single base substitution G A intron_variant COCA-CN 9 33927790 33927790 single base substitution A C downstream_gene_variant COCA-CN 9 33927790 33927790 single base substitution A C intron_variant COCA-CN 9 33927790 33927790 single base substitution A C splice_region_variant COCA-CN 9 33932649 33932649 single base substitution G A downstream_gene_variant COCA-CN 9 33932649 33932649 single base substitution G A intron_variant COCA-CN 9 33932649 33932649 single base substitution G A upstream_gene_variant COCA-CN 9 33933545 33933545 single base substitution G T downstream_gene_variant COCA-CN 9 33933545 33933545 single base substitution G T exon_variant COCA-CN 9 33933545 33933545 single base substitution G T missense_variant P417Q 1250C>A COCA-CN 9 33933545 33933545 single base substitution G T missense_variant P439Q 1316C>A COCA-CN 9 33933545 33933545 single base substitution G T missense_variant P631Q 1892C>A COCA-CN 9 33933545 33933545 single base substitution G T missense_variant P684Q 2051C>A COCA-CN 9 33933545 33933545 single base substitution G T upstream_gene_variant COCA-CN 9 33938795 33938795 single base substitution A C intron_variant COCA-CN 9 33938795 33938795 single base substitution A C upstream_gene_variant COCA-CN 9 33938816 33938816 single base substitution G T intron_variant COCA-CN 9 33938816 33938816 single base substitution G T upstream_gene_variant COCA-CN 9 33940844 33940844 single base substitution C A downstream_gene_variant COCA-CN 9 33940844 33940844 single base substitution C A intron_variant COCA-CN 9 33943429 33943429 single base substitution C T downstream_gene_variant COCA-CN 9 33943429 33943429 single base substitution C T synonymous_variant S201S 603G>A COCA-CN 9 33943429 33943429 single base substitution C T synonymous_variant S301S 903G>A COCA-CN 9 33943429 33943429 single base substitution C T synonymous_variant S323S 969G>A COCA-CN 9 33943429 33943429 single base substitution C T synonymous_variant S515S 1545G>A COCA-CN 9 33943429 33943429 single base substitution C T synonymous_variant S568S 1704G>A COCA-CN 9 33943429 33943429 single base substitution C T upstream_gene_variant COCA-CN 9 33943471 33943471 single base substitution T A downstream_gene_variant COCA-CN 9 33943471 33943471 single base substitution T A synonymous_variant P187P 561A>T COCA-CN 9 33943471 33943471 single base substitution T A synonymous_variant P287P 861A>T COCA-CN 9 33943471 33943471 single base substitution T A synonymous_variant P309P 927A>T COCA-CN 9 33943471 33943471 single base substitution T A synonymous_variant P501P 1503A>T COCA-CN 9 33943471 33943471 single base substitution T A synonymous_variant P554P 1662A>T COCA-CN 9 33943471 33943471 single base substitution T A upstream_gene_variant COCA-CN 9 33944638 33944638 single base substitution C T downstream_gene_variant COCA-CN 9 33944638 33944638 single base substitution C T splice_acceptor_variant COCA-CN 9 33944638 33944638 single base substitution C T upstream_gene_variant COCA-CN 9 33960777 33960777 single base substitution T C intron_variant COCA-CN 9 33973324 33973324 single base substitution A G intron_variant COCA-CN 9 33996394 33996394 single base substitution C A downstream_gene_variant COCA-CN 9 33996394 33996394 single base substitution C A exon_variant COCA-CN 9 33996394 33996394 single base substitution C A intron_variant COCA-CN 9 34009167 34009167 single base substitution G A intron_variant COCA-CN 9 34013175 34013175 single base substitution G A intron_variant COCA-CN 9 34013313 34013313 single base substitution G A intron_variant COCA-CN 9 34016207 34016207 single base substitution A G intron_variant COCA-CN 9 34016249 34016249 single base substitution G A intron_variant COCA-CN 9 34017013 34017013 single base substitution A G intron_variant COCA-CN 9 34017016 34017016 single base substitution A G intron_variant COCA-CN 9 34029505 34029505 single base substitution C G intron_variant COCA-CN 9 34033279 34033279 single base substitution T A intron_variant COCA-CN 9 34038647 34038647 single base substitution C G intron_variant COCA-CN 9 34039002 34039002 single base substitution C T intron_variant EOPC-DE 9 33942654 33942654 single base substitution G A downstream_gene_variant EOPC-DE 9 33942654 33942654 single base substitution G A intron_variant EOPC-DE 9 33942654 33942654 single base substitution G A upstream_gene_variant EOPC-DE 9 33962682 33962682 single base substitution T A intron_variant EOPC-DE 9 33991696 33991696 single base substitution A T downstream_gene_variant EOPC-DE 9 33991696 33991696 single base substitution A T intron_variant EOPC-DE 9 33991696 33991696 single base substitution A T upstream_gene_variant EOPC-DE 9 34020031 34020031 single base substitution G A intron_variant EOPC-DE 9 34052809 34052809 single base substitution G T upstream_gene_variant ESAD-UK 9 33917138 33917140 deletion of <=200bp ACG - downstream_gene_variant ESAD-UK 9 33918072 33918072 single base substitution C T downstream_gene_variant ESAD-UK 9 33919678 33919678 single base substitution T G downstream_gene_variant ESAD-UK 9 33920731 33920731 single base substitution G C downstream_gene_variant ESAD-UK 9 33921316 33921316 single base substitution G A downstream_gene_variant ESAD-UK 9 33928427 33928427 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 9 33928427 33928427 single base substitution G A exon_variant ESAD-UK 9 33928427 33928427 single base substitution G A intron_variant ESAD-UK 9 33933091 33933091 single base substitution C T downstream_gene_variant ESAD-UK 9 33933091 33933091 single base substitution C T intron_variant ESAD-UK 9 33933091 33933091 single base substitution C T upstream_gene_variant ESAD-UK 9 33933443 33933443 single base substitution T A downstream_gene_variant ESAD-UK 9 33933443 33933443 single base substitution T A intron_variant ESAD-UK 9 33933443 33933443 single base substitution T A upstream_gene_variant ESAD-UK 9 33937015 33937015 single base substitution A C intron_variant ESAD-UK 9 33937015 33937015 single base substitution A C upstream_gene_variant ESAD-UK 9 33937467 33937467 single base substitution G A intron_variant ESAD-UK 9 33937467 33937467 single base substitution G A upstream_gene_variant ESAD-UK 9 33940294 33940294 single base substitution G A downstream_gene_variant ESAD-UK 9 33940294 33940294 single base substitution G A intron_variant ESAD-UK 9 33942735 33942735 single base substitution A G downstream_gene_variant ESAD-UK 9 33942735 33942735 single base substitution A G intron_variant ESAD-UK 9 33942735 33942735 single base substitution A G upstream_gene_variant ESAD-UK 9 33949320 33949320 single base substitution C T intron_variant ESAD-UK 9 33949320 33949320 single base substitution C T upstream_gene_variant ESAD-UK 9 33949413 33949413 single base substitution A T intron_variant ESAD-UK 9 33949413 33949413 single base substitution A T upstream_gene_variant ESAD-UK 9 33951649 33951649 single base substitution G T intron_variant ESAD-UK 9 33951649 33951649 single base substitution G T upstream_gene_variant ESAD-UK 9 33955536 33955536 deletion of <=200bp A - intron_variant ESAD-UK 9 33955600 33955600 single base substitution G A intron_variant ESAD-UK 9 33959434 33959435 deletion of <=200bp AT - intron_variant ESAD-UK 9 33959588 33959588 single base substitution T C intron_variant ESAD-UK 9 33959590 33959590 single base substitution T C intron_variant ESAD-UK 9 33961117 33961117 single base substitution C G intron_variant ESAD-UK 9 33961593 33961593 deletion of <=200bp A - intron_variant ESAD-UK 9 33961632 33961632 single base substitution C T intron_variant ESAD-UK 9 33962687 33962687 single base substitution A G intron_variant ESAD-UK 9 33962971 33962971 single base substitution C G intron_variant ESAD-UK 9 33963096 33963096 single base substitution G C intron_variant ESAD-UK 9 33965232 33965232 single base substitution A G intron_variant ESAD-UK 9 33965232 33965232 single base substitution A G upstream_gene_variant ESAD-UK 9 33965769 33965769 single base substitution G A intron_variant ESAD-UK 9 33965769 33965769 single base substitution G A upstream_gene_variant ESAD-UK 9 33966901 33966901 single base substitution T A intron_variant ESAD-UK 9 33966901 33966901 single base substitution T A upstream_gene_variant ESAD-UK 9 33967288 33967288 single base substitution C T intron_variant ESAD-UK 9 33967288 33967288 single base substitution C T upstream_gene_variant ESAD-UK 9 33967386 33967386 single base substitution T A intron_variant ESAD-UK 9 33967386 33967386 single base substitution T A upstream_gene_variant ESAD-UK 9 33973093 33973093 single base substitution A C intron_variant ESAD-UK 9 33976576 33976576 single base substitution G C intron_variant ESAD-UK 9 33976742 33976742 single base substitution C A intron_variant ESAD-UK 9 33976768 33976768 single base substitution G T intron_variant ESAD-UK 9 33977496 33977496 single base substitution G C intron_variant ESAD-UK 9 33978418 33978418 single base substitution C G intron_variant ESAD-UK 9 33978967 33978967 single base substitution G A intron_variant ESAD-UK 9 33981812 33981812 deletion of <=200bp G - intron_variant ESAD-UK 9 33982133 33982133 deletion of <=200bp A - intron_variant ESAD-UK 9 33982926 33982926 single base substitution G A intron_variant ESAD-UK 9 33984184 33984184 single base substitution G T intron_variant ESAD-UK 9 33984507 33984507 single base substitution T A intron_variant ESAD-UK 9 33984876 33984876 single base substitution A T intron_variant ESAD-UK 9 33985748 33985748 single base substitution G A intron_variant ESAD-UK 9 33987435 33987435 deletion of <=200bp A - intron_variant ESAD-UK 9 33997104 33997104 single base substitution A C exon_variant ESAD-UK 9 33997104 33997104 single base substitution A C intron_variant ESAD-UK 9 33997569 33997569 single base substitution C T exon_variant ESAD-UK 9 33997569 33997569 single base substitution C T intron_variant ESAD-UK 9 34000312 34000312 single base substitution A C intron_variant ESAD-UK 9 34001971 34001971 single base substitution A C intron_variant ESAD-UK 9 34009196 34009196 single base substitution C T intron_variant ESAD-UK 9 34012222 34012222 single base substitution T A intron_variant ESAD-UK 9 34014571 34014571 single base substitution G A intron_variant ESAD-UK 9 34015184 34015184 single base substitution C A intron_variant ESAD-UK 9 34016055 34016055 single base substitution T C intron_variant ESAD-UK 9 34018898 34018898 single base substitution T A intron_variant ESAD-UK 9 34019175 34019175 single base substitution G T intron_variant ESAD-UK 9 34020872 34020872 single base substitution G A intron_variant ESAD-UK 9 34020912 34020912 single base substitution G A intron_variant ESAD-UK 9 34021452 34021452 single base substitution T G intron_variant ESAD-UK 9 34024671 34024671 single base substitution G A intron_variant ESAD-UK 9 34029201 34029201 single base substitution C A intron_variant ESAD-UK 9 34030773 34030773 single base substitution A T intron_variant ESAD-UK 9 34030968 34030968 single base substitution C T intron_variant ESAD-UK 9 34031153 34031153 single base substitution G T intron_variant ESAD-UK 9 34031983 34031983 single base substitution A G intron_variant ESAD-UK 9 34033177 34033177 single base substitution G C intron_variant ESAD-UK 9 34035147 34035147 single base substitution G T intron_variant ESAD-UK 9 34040656 34040656 single base substitution G C intron_variant ESAD-UK 9 34043653 34043653 single base substitution A C intron_variant ESAD-UK 9 34050303 34050303 single base substitution A G upstream_gene_variant ESAD-UK 9 34050560 34050560 single base substitution C T upstream_gene_variant ESAD-UK 9 34051599 34051599 single base substitution C T upstream_gene_variant ESCA-CN 9 33953093 33953093 single base substitution C A intron_variant ESCA-CN 9 33953093 33953093 single base substitution C A upstream_gene_variant GBM-US 9 33923830 33923830 single base substitution C T downstream_gene_variant GBM-US 9 33923830 33923830 single base substitution C T exon_variant GBM-US 9 33923830 33923830 single base substitution C T missense_variant G159D 476G>A GBM-US 9 33923830 33923830 single base substitution C T missense_variant G653D 1958G>A GBM-US 9 33923830 33923830 single base substitution C T missense_variant G675D 2024G>A GBM-US 9 33923830 33923830 single base substitution C T missense_variant G920D 2759G>A KIRC-US 9 33941709 33941709 single base substitution G T downstream_gene_variant KIRC-US 9 33941709 33941709 single base substitution G T exon_variant KIRC-US 9 33941709 33941709 single base substitution G T missense_variant H256N 766C>A KIRC-US 9 33941709 33941709 single base substitution G T missense_variant H356N 1066C>A KIRC-US 9 33941709 33941709 single base substitution G T missense_variant H378N 1132C>A KIRC-US 9 33941709 33941709 single base substitution G T missense_variant H570N 1708C>A KIRC-US 9 33941709 33941709 single base substitution G T missense_variant H623N 1867C>A KIRC-US 9 33986810 33986810 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 9 33986810 33986810 single base substitution A T intron_variant KIRC-US 9 33986810 33986810 single base substitution A T missense_variant D156E 468T>A KIRC-US 9 33986810 33986810 single base substitution A T missense_variant D32E 96T>A KIRC-US 9 33986813 33986813 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 9 33986813 33986813 single base substitution A C intron_variant KIRC-US 9 33986813 33986813 single base substitution A C missense_variant I155M 465T>G KIRC-US 9 33986813 33986813 single base substitution A C missense_variant I31M 93T>G KIRC-US 9 33989092 33989092 single base substitution C T 5_prime_UTR_variant KIRC-US 9 33989092 33989092 single base substitution C T intron_variant KIRC-US 9 33989092 33989092 single base substitution C T synonymous_variant K107K 321G>A KIRC-US 9 33989092 33989092 single base substitution C T upstream_gene_variant LAML-KR 9 33971546 33971546 single base substitution T C intron_variant LAML-KR 9 33988921 33988921 single base substitution T G intron_variant LAML-KR 9 34004829 34004829 single base substitution G A intron_variant LAML-KR 9 34004833 34004833 single base substitution A G intron_variant LICA-CN 9 33953320 33953320 single base substitution C A exon_variant LICA-CN 9 33953320 33953320 single base substitution C A missense_variant S194I 581G>T LICA-CN 9 33953320 33953320 single base substitution C A missense_variant S287I 860G>T LICA-CN 9 33953320 33953320 single base substitution C A missense_variant S340I 1019G>T LICA-CN 9 33953320 33953320 single base substitution C A missense_variant S73I 218G>T LICA-CN 9 33953320 33953320 single base substitution C A missense_variant S95I 284G>T LICA-CN 9 33953320 33953320 single base substitution C A upstream_gene_variant LICA-FR 9 33941736 33941736 single base substitution A T downstream_gene_variant LICA-FR 9 33941736 33941736 single base substitution A T missense_variant S247T 739T>A LICA-FR 9 33941736 33941736 single base substitution A T missense_variant S347T 1039T>A LICA-FR 9 33941736 33941736 single base substitution A T missense_variant S369T 1105T>A LICA-FR 9 33941736 33941736 single base substitution A T missense_variant S561T 1681T>A LICA-FR 9 33941736 33941736 single base substitution A T missense_variant S614T 1840T>A LICA-FR 9 33941736 33941736 single base substitution A T upstream_gene_variant LICA-FR 9 33956316 33956317 deletion of <=200bp TT - intron_variant LICA-FR 9 33973236 33973236 single base substitution C T intron_variant LICA-FR 9 33973236 33973236 single base substitution C T splice_acceptor_variant LICA-FR 9 33999852 33999852 insertion of <=200bp - GTAT intron_variant LICA-FR 9 34002376 34002377 deletion of <=200bp TT - intron_variant LICA-FR 9 34016281 34016281 single base substitution A G intron_variant LIHC-US 9 33953474 33953474 single base substitution T C splice_acceptor_variant LIHC-US 9 33953474 33953474 single base substitution T C upstream_gene_variant LIHC-US 9 33996317 33996317 single base substitution T C 5_prime_UTR_variant LIHC-US 9 33996317 33996317 single base substitution T C downstream_gene_variant LIHC-US 9 33996317 33996317 single base substitution T C exon_variant LIHC-US 9 33996317 33996317 single base substitution T C intron_variant LIHC-US 9 33996317 33996317 single base substitution T C synonymous_variant T64T 192A>G LINC-JP 9 33933732 33933732 single base substitution G C downstream_gene_variant LINC-JP 9 33933732 33933732 single base substitution G C intron_variant LINC-JP 9 33933732 33933732 single base substitution G C upstream_gene_variant LINC-JP 9 33948365 33948365 single base substitution T C downstream_gene_variant LINC-JP 9 33948365 33948365 single base substitution T C intron_variant LINC-JP 9 33948365 33948365 single base substitution T C splice_region_variant LINC-JP 9 33952378 33952378 single base substitution G A intron_variant LINC-JP 9 33952378 33952378 single base substitution G A upstream_gene_variant LINC-JP 9 33956333 33956333 single base substitution T G intron_variant LINC-JP 9 33960849 33960849 single base substitution C A exon_variant LINC-JP 9 33960849 33960849 single base substitution C A intron_variant LINC-JP 9 33960849 33960849 single base substitution C A missense_variant W112L 335G>T LINC-JP 9 33960849 33960849 single base substitution C A missense_variant W205L 614G>T LINC-JP 9 33960849 33960849 single base substitution C A missense_variant W258L 773G>T LINC-JP 9 33960849 33960849 single base substitution C A stop_gained G14* 40G>T LINC-JP 9 33968076 33968076 single base substitution A C intron_variant LINC-JP 9 33968076 33968076 single base substitution A C upstream_gene_variant LINC-JP 9 33968478 33968478 single base substitution C T intron_variant LINC-JP 9 33968478 33968478 single base substitution C T upstream_gene_variant LINC-JP 9 33972201 33972201 single base substitution T C intron_variant LINC-JP 9 33974532 33974532 single base substitution C A intron_variant LINC-JP 9 33986617 33986617 single base substitution A T intron_variant LINC-JP 9 33999321 33999321 single base substitution T A intron_variant LINC-JP 9 33999323 33999323 single base substitution A T intron_variant LINC-JP 9 33999851 33999851 single base substitution C T intron_variant LINC-JP 9 34001976 34001976 single base substitution C A intron_variant LINC-JP 9 34001977 34001977 single base substitution A C intron_variant LINC-JP 9 34005263 34005263 single base substitution G A intron_variant LINC-JP 9 34006236 34006236 single base substitution G A intron_variant LINC-JP 9 34016427 34016427 single base substitution T C intron_variant LINC-JP 9 34032869 34032869 single base substitution C A intron_variant LINC-JP 9 34043797 34043797 deletion of <=200bp T - intron_variant LIRI-JP 9 33918288 33918288 single base substitution T C downstream_gene_variant LIRI-JP 9 33918881 33918881 insertion of <=200bp - T downstream_gene_variant LIRI-JP 9 33923731 33923731 insertion of <=200bp - AA downstream_gene_variant LIRI-JP 9 33923731 33923731 insertion of <=200bp - AA intron_variant LIRI-JP 9 33923860 33923860 single base substitution T C downstream_gene_variant LIRI-JP 9 33923860 33923860 single base substitution T C exon_variant LIRI-JP 9 33923860 33923860 single base substitution T C missense_variant Y149C 446A>G LIRI-JP 9 33923860 33923860 single base substitution T C missense_variant Y643C 1928A>G LIRI-JP 9 33923860 33923860 single base substitution T C missense_variant Y665C 1994A>G LIRI-JP 9 33923860 33923860 single base substitution T C missense_variant Y910C 2729A>G LIRI-JP 9 33930607 33930607 single base substitution A C downstream_gene_variant LIRI-JP 9 33930607 33930607 single base substitution A C intron_variant LIRI-JP 9 33930607 33930607 single base substitution A C upstream_gene_variant LIRI-JP 9 33931772 33931772 single base substitution A G downstream_gene_variant LIRI-JP 9 33931772 33931772 single base substitution A G intron_variant LIRI-JP 9 33931772 33931772 single base substitution A G upstream_gene_variant LIRI-JP 9 33931786 33931786 single base substitution T A downstream_gene_variant LIRI-JP 9 33931786 33931786 single base substitution T A intron_variant LIRI-JP 9 33931786 33931786 single base substitution T A upstream_gene_variant LIRI-JP 9 33933232 33933232 single base substitution G T downstream_gene_variant LIRI-JP 9 33933232 33933232 single base substitution G T intron_variant LIRI-JP 9 33933232 33933232 single base substitution G T upstream_gene_variant LIRI-JP 9 33934966 33934966 single base substitution T A downstream_gene_variant LIRI-JP 9 33934966 33934966 single base substitution T A intron_variant LIRI-JP 9 33934966 33934966 single base substitution T A upstream_gene_variant LIRI-JP 9 33936745 33936745 single base substitution T C intron_variant LIRI-JP 9 33936745 33936745 single base substitution T C upstream_gene_variant LIRI-JP 9 33937560 33937560 single base substitution G A intron_variant LIRI-JP 9 33937560 33937560 single base substitution G A upstream_gene_variant LIRI-JP 9 33937847 33937847 single base substitution G A intron_variant LIRI-JP 9 33937847 33937847 single base substitution G A upstream_gene_variant LIRI-JP 9 33943883 33943883 single base substitution G A downstream_gene_variant LIRI-JP 9 33943883 33943883 single base substitution G A intron_variant LIRI-JP 9 33943883 33943883 single base substitution G A upstream_gene_variant LIRI-JP 9 33944299 33944299 single base substitution C G downstream_gene_variant LIRI-JP 9 33944299 33944299 single base substitution C G intron_variant LIRI-JP 9 33944299 33944299 single base substitution C G upstream_gene_variant LIRI-JP 9 33947495 33947495 single base substitution A G downstream_gene_variant LIRI-JP 9 33947495 33947495 single base substitution A G intron_variant LIRI-JP 9 33948511 33948511 single base substitution C A exon_variant LIRI-JP 9 33948511 33948511 single base substitution C A missense_variant L10F 30G>T LIRI-JP 9 33948511 33948511 single base substitution C A missense_variant L110F 330G>T LIRI-JP 9 33948511 33948511 single base substitution C A missense_variant L132F 396G>T LIRI-JP 9 33948511 33948511 single base substitution C A missense_variant L231F 693G>T LIRI-JP 9 33948511 33948511 single base substitution C A missense_variant L324F 972G>T LIRI-JP 9 33948511 33948511 single base substitution C A missense_variant L377F 1131G>T LIRI-JP 9 33948838 33948862 deletion of <=200bp AGAAATCAATTTTTAAAAACGTGAT - 5_prime_UTR_variant LIRI-JP 9 33948838 33948862 deletion of <=200bp AGAAATCAATTTTTAAAAACGTGAT - intron_variant LIRI-JP 9 33951096 33951096 single base substitution C T intron_variant LIRI-JP 9 33951096 33951096 single base substitution C T upstream_gene_variant LIRI-JP 9 33952405 33952405 single base substitution T C intron_variant LIRI-JP 9 33952405 33952405 single base substitution T C upstream_gene_variant LIRI-JP 9 33954671 33954671 single base substitution A G intron_variant LIRI-JP 9 33956844 33956844 single base substitution G T intron_variant LIRI-JP 9 33960270 33960270 single base substitution C A intron_variant LIRI-JP 9 33960603 33960603 single base substitution G A intron_variant LIRI-JP 9 33963914 33963919 deletion of <=200bp AATTGA - intron_variant LIRI-JP 9 33963914 33963919 deletion of <=200bp AATTGA - upstream_gene_variant LIRI-JP 9 33967173 33967173 single base substitution T G intron_variant LIRI-JP 9 33967173 33967173 single base substitution T G upstream_gene_variant LIRI-JP 9 33972035 33972035 single base substitution T C intron_variant LIRI-JP 9 33972357 33972357 single base substitution T A intron_variant LIRI-JP 9 33973081 33973081 single base substitution T G intron_variant LIRI-JP 9 33975258 33975258 single base substitution T C intron_variant LIRI-JP 9 33975785 33975785 single base substitution A T intron_variant LIRI-JP 9 33984926 33984926 single base substitution T C intron_variant LIRI-JP 9 33988968 33988968 single base substitution T A intron_variant LIRI-JP 9 33988968 33988968 single base substitution T A splice_region_variant LIRI-JP 9 33989552 33989552 single base substitution T C downstream_gene_variant LIRI-JP 9 33989552 33989552 single base substitution T C intron_variant LIRI-JP 9 33989552 33989552 single base substitution T C upstream_gene_variant LIRI-JP 9 33990156 33990156 single base substitution T C downstream_gene_variant LIRI-JP 9 33990156 33990156 single base substitution T C intron_variant LIRI-JP 9 33990156 33990156 single base substitution T C upstream_gene_variant LIRI-JP 9 33990349 33990349 single base substitution T C downstream_gene_variant LIRI-JP 9 33990349 33990349 single base substitution T C intron_variant LIRI-JP 9 33990349 33990349 single base substitution T C upstream_gene_variant LIRI-JP 9 33990755 33990755 single base substitution C T downstream_gene_variant LIRI-JP 9 33990755 33990755 single base substitution C T intron_variant LIRI-JP 9 33990755 33990755 single base substitution C T upstream_gene_variant LIRI-JP 9 33990775 33990775 single base substitution T C downstream_gene_variant LIRI-JP 9 33990775 33990775 single base substitution T C intron_variant LIRI-JP 9 33990775 33990775 single base substitution T C upstream_gene_variant LIRI-JP 9 33996616 33996616 single base substitution G T exon_variant LIRI-JP 9 33996616 33996616 single base substitution G T intron_variant LIRI-JP 9 33998880 33998880 single base substitution T C intron_variant LIRI-JP 9 34001548 34001548 single base substitution T C intron_variant LIRI-JP 9 34002075 34002075 single base substitution C T intron_variant LIRI-JP 9 34002325 34002325 single base substitution T C intron_variant LIRI-JP 9 34003684 34003684 single base substitution C T intron_variant LIRI-JP 9 34004095 34004095 single base substitution A G intron_variant LIRI-JP 9 34004161 34004161 single base substitution T C intron_variant LIRI-JP 9 34006475 34006475 single base substitution T G intron_variant LIRI-JP 9 34006483 34006483 single base substitution G C intron_variant LIRI-JP 9 34007264 34007264 single base substitution G A intron_variant LIRI-JP 9 34008719 34008719 single base substitution C A intron_variant LIRI-JP 9 34011635 34011635 single base substitution T A 5_prime_UTR_variant LIRI-JP 9 34011635 34011635 single base substitution T A exon_variant LIRI-JP 9 34011635 34011635 single base substitution T A intron_variant LIRI-JP 9 34011726 34011726 insertion of <=200bp - A intron_variant LIRI-JP 9 34015745 34015745 single base substitution G T intron_variant LIRI-JP 9 34017391 34017391 single base substitution T C intron_variant LIRI-JP 9 34020398 34020398 single base substitution C T intron_variant LIRI-JP 9 34021571 34021571 single base substitution A G intron_variant LIRI-JP 9 34022142 34022142 single base substitution C G intron_variant LIRI-JP 9 34023352 34023352 single base substitution A C intron_variant LIRI-JP 9 34025313 34025313 deletion of <=200bp T - intron_variant LIRI-JP 9 34026766 34026766 single base substitution A T intron_variant LIRI-JP 9 34031302 34031302 single base substitution G A intron_variant LIRI-JP 9 34033169 34033169 single base substitution T C intron_variant LIRI-JP 9 34035441 34035441 single base substitution A C intron_variant LIRI-JP 9 34037184 34037184 single base substitution C T intron_variant LIRI-JP 9 34037949 34037949 single base substitution A G intron_variant LIRI-JP 9 34041537 34041537 single base substitution A C intron_variant LIRI-JP 9 34042534 34042534 single base substitution C A intron_variant LIRI-JP 9 34043045 34043045 single base substitution G T intron_variant LIRI-JP 9 34044064 34044064 single base substitution G A intron_variant LIRI-JP 9 34047638 34047638 single base substitution C A intron_variant LIRI-JP 9 34048319 34048319 single base substitution A C intron_variant LIRI-JP 9 34048854 34048854 single base substitution T C 5_prime_UTR_variant LIRI-JP 9 34048854 34048854 single base substitution T C exon_variant LIRI-JP 9 34048854 34048854 single base substitution T C intron_variant LUSC-KR 9 33918980 33918980 single base substitution A G downstream_gene_variant LUSC-KR 9 33921643 33921643 single base substitution G C downstream_gene_variant LUSC-KR 9 33923297 33923297 single base substitution G A downstream_gene_variant LUSC-KR 9 33923297 33923297 single base substitution G A splice_region_variant LUSC-KR 9 33925503 33925503 single base substitution G C downstream_gene_variant LUSC-KR 9 33925503 33925503 single base substitution G C intron_variant LUSC-KR 9 33926082 33926082 single base substitution C A downstream_gene_variant LUSC-KR 9 33926082 33926082 single base substitution C A intron_variant LUSC-KR 9 33926692 33926692 single base substitution G A downstream_gene_variant LUSC-KR 9 33926692 33926692 single base substitution G A intron_variant LUSC-KR 9 33929986 33929986 single base substitution G C intron_variant LUSC-KR 9 33929986 33929986 single base substitution G C upstream_gene_variant LUSC-KR 9 33933890 33933890 single base substitution C A downstream_gene_variant LUSC-KR 9 33933890 33933890 single base substitution C A intron_variant LUSC-KR 9 33939773 33939773 single base substitution A G downstream_gene_variant LUSC-KR 9 33939773 33939773 single base substitution A G intron_variant LUSC-KR 9 33939841 33939841 single base substitution G A downstream_gene_variant LUSC-KR 9 33939841 33939841 single base substitution G A intron_variant LUSC-KR 9 33945380 33945380 single base substitution C A downstream_gene_variant LUSC-KR 9 33945380 33945380 single base substitution C A intron_variant LUSC-KR 9 33945380 33945380 single base substitution C A upstream_gene_variant LUSC-KR 9 33946475 33946475 single base substitution G A downstream_gene_variant LUSC-KR 9 33946475 33946475 single base substitution G A intron_variant LUSC-KR 9 33946475 33946475 single base substitution G A upstream_gene_variant LUSC-KR 9 33950795 33950795 single base substitution G T intron_variant LUSC-KR 9 33950795 33950795 single base substitution G T upstream_gene_variant LUSC-KR 9 33951855 33951855 single base substitution T A intron_variant LUSC-KR 9 33951855 33951855 single base substitution T A upstream_gene_variant LUSC-KR 9 33952118 33952118 single base substitution C T intron_variant LUSC-KR 9 33952118 33952118 single base substitution C T upstream_gene_variant LUSC-KR 9 33965555 33965555 single base substitution G A intron_variant LUSC-KR 9 33965555 33965555 single base substitution G A upstream_gene_variant LUSC-KR 9 33970061 33970061 single base substitution G A intron_variant LUSC-KR 9 33974655 33974655 single base substitution C T intron_variant LUSC-KR 9 33979097 33979097 single base substitution G C intron_variant LUSC-KR 9 33989237 33989237 single base substitution G A intron_variant LUSC-KR 9 33989237 33989237 single base substitution G A upstream_gene_variant LUSC-KR 9 33990652 33990652 single base substitution G T downstream_gene_variant LUSC-KR 9 33990652 33990652 single base substitution G T intron_variant LUSC-KR 9 33990652 33990652 single base substitution G T upstream_gene_variant LUSC-KR 9 33995185 33995185 single base substitution C A downstream_gene_variant LUSC-KR 9 33995185 33995185 single base substitution C A exon_variant LUSC-KR 9 33995185 33995185 single base substitution C A intron_variant LUSC-KR 9 33996070 33996070 single base substitution T A downstream_gene_variant LUSC-KR 9 33996070 33996070 single base substitution T A exon_variant LUSC-KR 9 33996070 33996070 single base substitution T A intron_variant LUSC-KR 9 33997033 33997033 single base substitution C A exon_variant LUSC-KR 9 33997033 33997033 single base substitution C A intron_variant LUSC-KR 9 34001407 34001407 single base substitution T C intron_variant LUSC-KR 9 34005201 34005201 single base substitution C A intron_variant LUSC-KR 9 34008034 34008034 single base substitution G A intron_variant LUSC-KR 9 34008336 34008336 single base substitution T A intron_variant LUSC-KR 9 34011895 34011895 single base substitution C G intron_variant LUSC-KR 9 34019941 34019941 single base substitution C T intron_variant LUSC-KR 9 34021013 34021013 single base substitution G C intron_variant LUSC-KR 9 34025035 34025035 single base substitution C A intron_variant LUSC-KR 9 34029291 34029291 single base substitution G A intron_variant LUSC-KR 9 34030721 34030721 single base substitution G A intron_variant LUSC-KR 9 34035906 34035906 single base substitution G C intron_variant LUSC-KR 9 34038737 34038737 single base substitution C A intron_variant LUSC-KR 9 34044634 34044634 single base substitution A C intron_variant LUSC-KR 9 34045070 34045070 single base substitution G C intron_variant LUSC-KR 9 34051118 34051118 single base substitution C A upstream_gene_variant LUSC-US 9 33923422 33923422 single base substitution G T downstream_gene_variant LUSC-US 9 33923422 33923422 single base substitution G T missense_variant P190T 568C>A LUSC-US 9 33923422 33923422 single base substitution G T missense_variant P684T 2050C>A LUSC-US 9 33923422 33923422 single base substitution G T missense_variant P706T 2116C>A LUSC-US 9 33923422 33923422 single base substitution G T missense_variant P951T 2851C>A LUSC-US 9 33927889 33927889 single base substitution G C 5_prime_UTR_variant LUSC-US 9 33927889 33927889 single base substitution G C exon_variant LUSC-US 9 33927889 33927889 single base substitution G C missense_variant P684R 2051C>G LUSC-US 9 33927889 33927889 single base substitution G C synonymous_variant S492S 1476C>G LUSC-US 9 33927889 33927889 single base substitution G C synonymous_variant S514S 1542C>G LUSC-US 9 33927889 33927889 single base substitution G C synonymous_variant S759S 2277C>G LUSC-US 9 33948493 33948493 single base substitution C A exon_variant LUSC-US 9 33948493 33948493 single base substitution C A synonymous_variant P116P 348G>T LUSC-US 9 33948493 33948493 single base substitution C A synonymous_variant P138P 414G>T LUSC-US 9 33948493 33948493 single base substitution C A synonymous_variant P16P 48G>T LUSC-US 9 33948493 33948493 single base substitution C A synonymous_variant P237P 711G>T LUSC-US 9 33948493 33948493 single base substitution C A synonymous_variant P330P 990G>T LUSC-US 9 33948493 33948493 single base substitution C A synonymous_variant P383P 1149G>T MALY-DE 9 33924769 33924769 single base substitution C T downstream_gene_variant MALY-DE 9 33924769 33924769 single base substitution C T intron_variant MALY-DE 9 33928486 33928486 single base substitution G A 5_prime_UTR_variant MALY-DE 9 33928486 33928486 single base substitution G A exon_variant MALY-DE 9 33928486 33928486 single base substitution G A intron_variant MALY-DE 9 33941360 33941360 single base substitution T C downstream_gene_variant MALY-DE 9 33941360 33941360 single base substitution T C intron_variant MALY-DE 9 33952521 33952521 single base substitution A G intron_variant MALY-DE 9 33952521 33952521 single base substitution A G upstream_gene_variant MALY-DE 9 33954058 33954058 single base substitution C T intron_variant MALY-DE 9 33956383 33956383 single base substitution C G intron_variant MALY-DE 9 33965774 33965774 single base substitution C T intron_variant MALY-DE 9 33965774 33965774 single base substitution C T upstream_gene_variant MALY-DE 9 33972309 33972309 single base substitution A T intron_variant MALY-DE 9 33974207 33974207 single base substitution G T intron_variant MALY-DE 9 33976068 33976068 single base substitution A C intron_variant MALY-DE 9 33976607 33976607 single base substitution G A intron_variant MALY-DE 9 33982024 33982024 single base substitution A C intron_variant MALY-DE 9 33983971 33983971 single base substitution A T intron_variant MALY-DE 9 33993009 33993009 single base substitution A T downstream_gene_variant MALY-DE 9 33993009 33993009 single base substitution A T intron_variant MALY-DE 9 33993009 33993009 single base substitution A T upstream_gene_variant MALY-DE 9 33994350 33994350 single base substitution T A downstream_gene_variant MALY-DE 9 33994350 33994350 single base substitution T A intron_variant MALY-DE 9 33998408 33998408 single base substitution A T exon_variant MALY-DE 9 33998408 33998408 single base substitution A T intron_variant MALY-DE 9 34001216 34001216 single base substitution A C intron_variant MALY-DE 9 34008169 34008169 single base substitution G A intron_variant MALY-DE 9 34009091 34009091 single base substitution T C intron_variant MALY-DE 9 34011168 34011168 single base substitution T C intron_variant MALY-DE 9 34011649 34011649 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 9 34011649 34011649 single base substitution A T exon_variant MALY-DE 9 34011649 34011649 single base substitution A T intron_variant MALY-DE 9 34012780 34012780 single base substitution A C intron_variant MALY-DE 9 34014948 34014948 single base substitution A G intron_variant MALY-DE 9 34024250 34024250 single base substitution G A intron_variant MALY-DE 9 34025882 34025882 single base substitution T G intron_variant MALY-DE 9 34034200 34034200 single base substitution A T intron_variant MALY-DE 9 34037385 34037385 single base substitution G A intron_variant MALY-DE 9 34037874 34037874 insertion of <=200bp - T intron_variant MALY-DE 9 34048485 34048485 single base substitution C A intron_variant MALY-DE 9 34049694 34049694 single base substitution G A upstream_gene_variant MALY-DE 9 34053652 34053652 insertion of <=200bp - T upstream_gene_variant MELA-AU 9 33917715 33917715 single base substitution A G downstream_gene_variant MELA-AU 9 33919127 33919127 single base substitution C T downstream_gene_variant MELA-AU 9 33919704 33919704 single base substitution G A downstream_gene_variant MELA-AU 9 33920220 33920220 single base substitution A G downstream_gene_variant MELA-AU 9 33923106 33923106 single base substitution G A downstream_gene_variant MELA-AU 9 33923106 33923106 single base substitution G A intron_variant MELA-AU 9 33923820 33923820 single base substitution A T downstream_gene_variant MELA-AU 9 33923820 33923820 single base substitution A T missense_variant S162R 486T>A MELA-AU 9 33923820 33923820 single base substitution A T missense_variant S656R 1968T>A MELA-AU 9 33923820 33923820 single base substitution A T missense_variant S678R 2034T>A MELA-AU 9 33923820 33923820 single base substitution A T missense_variant S923R 2769T>A MELA-AU 9 33924628 33924628 single base substitution C T downstream_gene_variant MELA-AU 9 33924628 33924628 single base substitution C T intron_variant MELA-AU 9 33926592 33926592 single base substitution C T downstream_gene_variant MELA-AU 9 33926592 33926592 single base substitution C T intron_variant MELA-AU 9 33927080 33927080 single base substitution T C downstream_gene_variant MELA-AU 9 33927080 33927080 single base substitution T C splice_acceptor_variant MELA-AU 9 33927300 33927300 single base substitution A G downstream_gene_variant MELA-AU 9 33927300 33927300 single base substitution A G intron_variant MELA-AU 9 33927469 33927469 single base substitution T G downstream_gene_variant MELA-AU 9 33927469 33927469 single base substitution T G intron_variant MELA-AU 9 33929552 33929552 single base substitution C T intron_variant MELA-AU 9 33929552 33929552 single base substitution C T upstream_gene_variant MELA-AU 9 33930826 33930826 single base substitution G A downstream_gene_variant MELA-AU 9 33930826 33930826 single base substitution G A intron_variant MELA-AU 9 33930826 33930826 single base substitution G A upstream_gene_variant MELA-AU 9 33931109 33931109 single base substitution G A downstream_gene_variant MELA-AU 9 33931109 33931109 single base substitution G A intron_variant MELA-AU 9 33931109 33931109 single base substitution G A upstream_gene_variant MELA-AU 9 33931455 33931456 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 9 33931455 33931456 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 9 33931455 33931456 multiple base substitution (>=2bp and <=200bp) AC CT upstream_gene_variant MELA-AU 9 33932001 33932001 single base substitution C T downstream_gene_variant MELA-AU 9 33932001 33932001 single base substitution C T intron_variant MELA-AU 9 33932001 33932001 single base substitution C T upstream_gene_variant MELA-AU 9 33932130 33932131 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 33932130 33932131 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33932130 33932131 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 33932481 33932481 single base substitution C T downstream_gene_variant MELA-AU 9 33932481 33932481 single base substitution C T intron_variant MELA-AU 9 33932481 33932481 single base substitution C T upstream_gene_variant MELA-AU 9 33932540 33932540 single base substitution G A downstream_gene_variant MELA-AU 9 33932540 33932540 single base substitution G A intron_variant MELA-AU 9 33932540 33932540 single base substitution G A upstream_gene_variant MELA-AU 9 33933549 33933549 single base substitution G A downstream_gene_variant MELA-AU 9 33933549 33933549 single base substitution G A exon_variant MELA-AU 9 33933549 33933549 single base substitution G A synonymous_variant L416L 1246C>T MELA-AU 9 33933549 33933549 single base substitution G A synonymous_variant L438L 1312C>T MELA-AU 9 33933549 33933549 single base substitution G A synonymous_variant L630L 1888C>T MELA-AU 9 33933549 33933549 single base substitution G A synonymous_variant L683L 2047C>T MELA-AU 9 33933549 33933549 single base substitution G A upstream_gene_variant MELA-AU 9 33933768 33933768 single base substitution C T downstream_gene_variant MELA-AU 9 33933768 33933768 single base substitution C T intron_variant MELA-AU 9 33933768 33933768 single base substitution C T upstream_gene_variant MELA-AU 9 33934730 33934730 single base substitution G A downstream_gene_variant MELA-AU 9 33934730 33934730 single base substitution G A intron_variant MELA-AU 9 33934730 33934730 single base substitution G A upstream_gene_variant MELA-AU 9 33934853 33934853 single base substitution A G downstream_gene_variant MELA-AU 9 33934853 33934853 single base substitution A G intron_variant MELA-AU 9 33934853 33934853 single base substitution A G upstream_gene_variant MELA-AU 9 33937985 33937985 single base substitution G A intron_variant MELA-AU 9 33937985 33937985 single base substitution G A upstream_gene_variant MELA-AU 9 33938087 33938087 single base substitution C T intron_variant MELA-AU 9 33938087 33938087 single base substitution C T upstream_gene_variant MELA-AU 9 33939951 33939951 single base substitution G A downstream_gene_variant MELA-AU 9 33939951 33939951 single base substitution G A intron_variant MELA-AU 9 33940925 33940925 single base substitution T C downstream_gene_variant MELA-AU 9 33940925 33940925 single base substitution T C intron_variant MELA-AU 9 33942217 33942217 single base substitution G A downstream_gene_variant MELA-AU 9 33942217 33942217 single base substitution G A intron_variant MELA-AU 9 33942217 33942217 single base substitution G A upstream_gene_variant MELA-AU 9 33942217 33942217 single base substitution G T downstream_gene_variant MELA-AU 9 33942217 33942217 single base substitution G T intron_variant MELA-AU 9 33942217 33942217 single base substitution G T upstream_gene_variant MELA-AU 9 33942450 33942450 single base substitution G A downstream_gene_variant MELA-AU 9 33942450 33942450 single base substitution G A intron_variant MELA-AU 9 33942450 33942450 single base substitution G A upstream_gene_variant MELA-AU 9 33943944 33943944 single base substitution G A downstream_gene_variant MELA-AU 9 33943944 33943944 single base substitution G A intron_variant MELA-AU 9 33943944 33943944 single base substitution G A upstream_gene_variant MELA-AU 9 33946087 33946087 single base substitution G A downstream_gene_variant MELA-AU 9 33946087 33946087 single base substitution G A intron_variant MELA-AU 9 33946087 33946087 single base substitution G A upstream_gene_variant MELA-AU 9 33946126 33946126 single base substitution A G downstream_gene_variant MELA-AU 9 33946126 33946126 single base substitution A G intron_variant MELA-AU 9 33946126 33946126 single base substitution A G upstream_gene_variant MELA-AU 9 33946128 33946128 single base substitution G A downstream_gene_variant MELA-AU 9 33946128 33946128 single base substitution G A intron_variant MELA-AU 9 33946128 33946128 single base substitution G A upstream_gene_variant MELA-AU 9 33946239 33946239 single base substitution G A downstream_gene_variant MELA-AU 9 33946239 33946239 single base substitution G A intron_variant MELA-AU 9 33946239 33946239 single base substitution G A upstream_gene_variant MELA-AU 9 33946527 33946527 single base substitution G A downstream_gene_variant MELA-AU 9 33946527 33946527 single base substitution G A intron_variant MELA-AU 9 33946527 33946527 single base substitution G A upstream_gene_variant MELA-AU 9 33947847 33947847 single base substitution G A downstream_gene_variant MELA-AU 9 33947847 33947847 single base substitution G A intron_variant MELA-AU 9 33948816 33948816 single base substitution G A 5_prime_UTR_variant MELA-AU 9 33948816 33948816 single base substitution G A intron_variant MELA-AU 9 33950261 33950262 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 33950261 33950262 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 33950418 33950418 single base substitution T G intron_variant MELA-AU 9 33950418 33950418 single base substitution T G upstream_gene_variant MELA-AU 9 33951472 33951472 single base substitution G A intron_variant MELA-AU 9 33951472 33951472 single base substitution G A upstream_gene_variant MELA-AU 9 33952508 33952508 single base substitution C A intron_variant MELA-AU 9 33952508 33952508 single base substitution C A upstream_gene_variant MELA-AU 9 33952674 33952674 single base substitution G A intron_variant MELA-AU 9 33952674 33952674 single base substitution G A upstream_gene_variant MELA-AU 9 33952744 33952744 single base substitution A G intron_variant MELA-AU 9 33952744 33952744 single base substitution A G upstream_gene_variant MELA-AU 9 33954445 33954445 single base substitution A T intron_variant MELA-AU 9 33955181 33955181 single base substitution A C intron_variant MELA-AU 9 33955294 33955294 single base substitution G A intron_variant MELA-AU 9 33956519 33956519 single base substitution G A intron_variant MELA-AU 9 33956574 33956574 single base substitution A C intron_variant MELA-AU 9 33958067 33958067 single base substitution C T intron_variant MELA-AU 9 33958134 33958134 single base substitution A T intron_variant MELA-AU 9 33958840 33958840 single base substitution G C intron_variant MELA-AU 9 33959567 33959567 single base substitution G A intron_variant MELA-AU 9 33960474 33960474 single base substitution G A intron_variant MELA-AU 9 33960772 33960772 single base substitution C T intron_variant MELA-AU 9 33961261 33961261 single base substitution C A intron_variant MELA-AU 9 33961583 33961583 single base substitution A G intron_variant MELA-AU 9 33962410 33962410 single base substitution C T intron_variant MELA-AU 9 33962428 33962428 single base substitution G A intron_variant MELA-AU 9 33962551 33962551 single base substitution G C intron_variant MELA-AU 9 33962682 33962682 single base substitution T A intron_variant MELA-AU 9 33962684 33962684 single base substitution A G intron_variant MELA-AU 9 33962872 33962872 single base substitution G A intron_variant MELA-AU 9 33963035 33963035 single base substitution A C intron_variant MELA-AU 9 33963387 33963387 single base substitution G A intron_variant MELA-AU 9 33964419 33964419 single base substitution G A intron_variant MELA-AU 9 33964419 33964419 single base substitution G A upstream_gene_variant MELA-AU 9 33965260 33965260 single base substitution T C intron_variant MELA-AU 9 33965260 33965260 single base substitution T C upstream_gene_variant MELA-AU 9 33965275 33965275 single base substitution T A intron_variant MELA-AU 9 33965275 33965275 single base substitution T A upstream_gene_variant MELA-AU 9 33967360 33967360 single base substitution G A intron_variant MELA-AU 9 33967360 33967360 single base substitution G A upstream_gene_variant MELA-AU 9 33967879 33967879 single base substitution G A intron_variant MELA-AU 9 33967879 33967879 single base substitution G A upstream_gene_variant MELA-AU 9 33968188 33968188 single base substitution T A intron_variant MELA-AU 9 33968188 33968188 single base substitution T A upstream_gene_variant MELA-AU 9 33969016 33969016 single base substitution G A intron_variant MELA-AU 9 33969559 33969559 single base substitution A T intron_variant MELA-AU 9 33969563 33969563 single base substitution G A intron_variant MELA-AU 9 33969714 33969714 single base substitution G C intron_variant MELA-AU 9 33969852 33969852 single base substitution C T intron_variant MELA-AU 9 33969998 33969998 single base substitution G A intron_variant MELA-AU 9 33970288 33970288 single base substitution G A intron_variant MELA-AU 9 33970824 33970824 single base substitution G A intron_variant MELA-AU 9 33970892 33970892 single base substitution C T intron_variant MELA-AU 9 33970935 33970935 single base substitution G A intron_variant MELA-AU 9 33972320 33972320 single base substitution G A intron_variant MELA-AU 9 33972529 33972529 single base substitution G A intron_variant MELA-AU 9 33972529 33972530 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 9 33972948 33972948 single base substitution G A intron_variant MELA-AU 9 33973354 33973354 single base substitution A G intron_variant MELA-AU 9 33974015 33974015 single base substitution G A intron_variant MELA-AU 9 33974306 33974306 single base substitution G A intron_variant MELA-AU 9 33975212 33975212 single base substitution G A intron_variant MELA-AU 9 33975337 33975337 single base substitution G A intron_variant MELA-AU 9 33977010 33977010 single base substitution G A intron_variant MELA-AU 9 33977498 33977498 single base substitution T A intron_variant MELA-AU 9 33978206 33978206 single base substitution G A intron_variant MELA-AU 9 33978236 33978236 single base substitution G A intron_variant MELA-AU 9 33978254 33978254 single base substitution G A intron_variant MELA-AU 9 33979468 33979468 single base substitution G C intron_variant MELA-AU 9 33979760 33979760 single base substitution G A intron_variant MELA-AU 9 33980209 33980209 single base substitution G A intron_variant MELA-AU 9 33980461 33980461 single base substitution G A intron_variant MELA-AU 9 33981514 33981514 single base substitution C T intron_variant MELA-AU 9 33981736 33981736 single base substitution G A intron_variant MELA-AU 9 33982535 33982535 single base substitution G A intron_variant MELA-AU 9 33983611 33983611 single base substitution G A intron_variant MELA-AU 9 33984252 33984252 single base substitution G A intron_variant MELA-AU 9 33984471 33984471 single base substitution G A intron_variant MELA-AU 9 33987858 33987858 single base substitution G A intron_variant MELA-AU 9 33987923 33987923 single base substitution T C intron_variant MELA-AU 9 33988838 33988838 single base substitution G A intron_variant MELA-AU 9 33990116 33990116 single base substitution G A downstream_gene_variant MELA-AU 9 33990116 33990116 single base substitution G A intron_variant MELA-AU 9 33990116 33990116 single base substitution G A upstream_gene_variant MELA-AU 9 33990265 33990265 single base substitution A T downstream_gene_variant MELA-AU 9 33990265 33990265 single base substitution A T intron_variant MELA-AU 9 33990265 33990265 single base substitution A T upstream_gene_variant MELA-AU 9 33990764 33990764 single base substitution A G downstream_gene_variant MELA-AU 9 33990764 33990764 single base substitution A G intron_variant MELA-AU 9 33990764 33990764 single base substitution A G upstream_gene_variant MELA-AU 9 33992660 33992660 single base substitution G A downstream_gene_variant MELA-AU 9 33992660 33992660 single base substitution G A intron_variant MELA-AU 9 33992660 33992660 single base substitution G A upstream_gene_variant MELA-AU 9 33992726 33992726 single base substitution A T downstream_gene_variant MELA-AU 9 33992726 33992726 single base substitution A T intron_variant MELA-AU 9 33992726 33992726 single base substitution A T upstream_gene_variant MELA-AU 9 33993338 33993338 single base substitution G A downstream_gene_variant MELA-AU 9 33993338 33993338 single base substitution G A intron_variant MELA-AU 9 33993338 33993338 single base substitution G A upstream_gene_variant MELA-AU 9 33993553 33993553 single base substitution C T downstream_gene_variant MELA-AU 9 33993553 33993553 single base substitution C T intron_variant MELA-AU 9 33993553 33993553 single base substitution C T upstream_gene_variant MELA-AU 9 33994326 33994326 single base substitution A T downstream_gene_variant MELA-AU 9 33994326 33994326 single base substitution A T intron_variant MELA-AU 9 33994575 33994575 single base substitution C T downstream_gene_variant MELA-AU 9 33994575 33994575 single base substitution C T exon_variant MELA-AU 9 33994575 33994575 single base substitution C T intron_variant MELA-AU 9 33996692 33996692 single base substitution G A exon_variant MELA-AU 9 33996692 33996692 single base substitution G A intron_variant MELA-AU 9 33997514 33997514 single base substitution A G exon_variant MELA-AU 9 33997514 33997514 single base substitution A G intron_variant MELA-AU 9 33998049 33998049 single base substitution G A exon_variant MELA-AU 9 33998049 33998049 single base substitution G A intron_variant MELA-AU 9 33998396 33998396 single base substitution T A exon_variant MELA-AU 9 33998396 33998396 single base substitution T A intron_variant MELA-AU 9 33998810 33998810 single base substitution G A 5_prime_UTR_variant MELA-AU 9 33998810 33998810 single base substitution G A exon_variant MELA-AU 9 33998810 33998810 single base substitution G A missense_variant S13L 38C>T MELA-AU 9 33998810 33998810 single base substitution G A missense_variant S51L 152C>T MELA-AU 9 33999082 33999082 single base substitution G A intron_variant MELA-AU 9 33999712 33999712 single base substitution G A intron_variant MELA-AU 9 34000079 34000079 single base substitution G A intron_variant MELA-AU 9 34000081 34000081 single base substitution G A intron_variant MELA-AU 9 34000490 34000490 single base substitution G A intron_variant MELA-AU 9 34001626 34001626 single base substitution G A intron_variant MELA-AU 9 34002143 34002143 single base substitution G A intron_variant MELA-AU 9 34004489 34004489 single base substitution G A intron_variant MELA-AU 9 34004849 34004849 single base substitution C T intron_variant MELA-AU 9 34005155 34005155 single base substitution G A intron_variant MELA-AU 9 34006968 34006968 single base substitution T A intron_variant MELA-AU 9 34008688 34008688 single base substitution G A intron_variant MELA-AU 9 34009051 34009051 single base substitution A G intron_variant MELA-AU 9 34009149 34009149 single base substitution G A intron_variant MELA-AU 9 34011886 34011886 single base substitution G A intron_variant MELA-AU 9 34012350 34012350 single base substitution G A intron_variant MELA-AU 9 34013183 34013183 single base substitution G A intron_variant MELA-AU 9 34013622 34013622 single base substitution C T intron_variant MELA-AU 9 34013698 34013707 deletion of <=200bp AACCCCGTCT - intron_variant MELA-AU 9 34014252 34014252 single base substitution G A intron_variant MELA-AU 9 34017512 34017512 single base substitution A G intron_variant MELA-AU 9 34017540 34017540 single base substitution G A intron_variant MELA-AU 9 34018974 34018974 single base substitution G A intron_variant MELA-AU 9 34019100 34019100 insertion of <=200bp - A intron_variant MELA-AU 9 34019228 34019228 single base substitution C T intron_variant MELA-AU 9 34020448 34020448 single base substitution G A intron_variant MELA-AU 9 34020989 34020989 single base substitution G A intron_variant MELA-AU 9 34022345 34022345 single base substitution T A intron_variant MELA-AU 9 34023540 34023540 single base substitution A G intron_variant MELA-AU 9 34024123 34024123 single base substitution G A intron_variant MELA-AU 9 34024334 34024334 single base substitution C G intron_variant MELA-AU 9 34026256 34026256 single base substitution A C intron_variant MELA-AU 9 34026354 34026354 single base substitution G A intron_variant MELA-AU 9 34027500 34027500 single base substitution G A intron_variant MELA-AU 9 34028292 34028292 deletion of <=200bp A - intron_variant MELA-AU 9 34028373 34028373 single base substitution T C intron_variant MELA-AU 9 34028804 34028804 single base substitution G A intron_variant MELA-AU 9 34030214 34030214 single base substitution C T intron_variant MELA-AU 9 34030430 34030430 single base substitution G C intron_variant MELA-AU 9 34030747 34030747 single base substitution A G intron_variant MELA-AU 9 34034689 34034690 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 34034962 34034962 single base substitution C G intron_variant MELA-AU 9 34034962 34034962 single base substitution C T intron_variant MELA-AU 9 34035487 34035487 single base substitution G A intron_variant MELA-AU 9 34036537 34036537 single base substitution A T intron_variant MELA-AU 9 34037081 34037081 single base substitution G A intron_variant MELA-AU 9 34038585 34038585 single base substitution C T intron_variant MELA-AU 9 34038851 34038851 single base substitution G A intron_variant MELA-AU 9 34038949 34038949 single base substitution G A intron_variant MELA-AU 9 34041390 34041390 single base substitution G A intron_variant MELA-AU 9 34041933 34041933 single base substitution G A intron_variant MELA-AU 9 34042582 34042582 single base substitution C A intron_variant MELA-AU 9 34043603 34043603 single base substitution C G intron_variant MELA-AU 9 34044489 34044489 single base substitution G A intron_variant MELA-AU 9 34044885 34044885 single base substitution G A intron_variant MELA-AU 9 34044895 34044895 single base substitution A G intron_variant MELA-AU 9 34045546 34045546 single base substitution A G intron_variant MELA-AU 9 34047673 34047674 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 34048248 34048248 single base substitution C T intron_variant MELA-AU 9 34049400 34049400 single base substitution G A upstream_gene_variant MELA-AU 9 34049477 34049477 single base substitution G A upstream_gene_variant MELA-AU 9 34049517 34049517 single base substitution G A upstream_gene_variant MELA-AU 9 34050549 34050549 single base substitution C T upstream_gene_variant MELA-AU 9 34050665 34050666 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 34050770 34050770 single base substitution C T upstream_gene_variant MELA-AU 9 34051033 34051033 single base substitution C T upstream_gene_variant MELA-AU 9 34051415 34051415 single base substitution G A upstream_gene_variant MELA-AU 9 34051605 34051605 single base substitution C T upstream_gene_variant MELA-AU 9 34051694 34051694 single base substitution C T upstream_gene_variant MELA-AU 9 34051864 34051864 single base substitution G A upstream_gene_variant MELA-AU 9 34053258 34053258 single base substitution C T upstream_gene_variant MELA-AU 9 34053411 34053411 single base substitution G A upstream_gene_variant MELA-AU 9 34053888 34053888 single base substitution G A upstream_gene_variant ORCA-IN 9 33926987 33926987 single base substitution C T downstream_gene_variant ORCA-IN 9 33926987 33926987 single base substitution C T splice_region_variant ORCA-IN 9 33935972 33935972 single base substitution G C intron_variant ORCA-IN 9 33935972 33935972 single base substitution G C upstream_gene_variant ORCA-IN 9 33948695 33948695 single base substitution C T 5_prime_UTR_variant ORCA-IN 9 33948695 33948695 single base substitution C T intron_variant ORCA-IN 9 33975443 33975443 deletion of <=200bp C - intron_variant ORCA-IN 9 33996034 33996034 single base substitution G T downstream_gene_variant ORCA-IN 9 33996034 33996034 single base substitution G T exon_variant ORCA-IN 9 33996034 33996034 single base substitution G T intron_variant ORCA-IN 9 33998031 33998031 single base substitution C G exon_variant ORCA-IN 9 33998031 33998031 single base substitution C G intron_variant ORCA-IN 9 34022427 34022427 insertion of <=200bp - C intron_variant ORCA-IN 9 34035575 34035575 single base substitution G A intron_variant OV-AU 9 33924207 33924207 single base substitution G C downstream_gene_variant OV-AU 9 33924207 33924207 single base substitution G C exon_variant OV-AU 9 33924207 33924207 single base substitution G C missense_variant P102A 304C>G OV-AU 9 33924207 33924207 single base substitution G C missense_variant P596A 1786C>G OV-AU 9 33924207 33924207 single base substitution G C missense_variant P618A 1852C>G OV-AU 9 33924207 33924207 single base substitution G C missense_variant P863A 2587C>G OV-AU 9 33933987 33933987 single base substitution G A downstream_gene_variant OV-AU 9 33933987 33933987 single base substitution G A intron_variant OV-AU 9 33935584 33935584 single base substitution T C 3_prime_UTR_variant OV-AU 9 33935584 33935584 single base substitution T C intron_variant OV-AU 9 33935584 33935584 single base substitution T C upstream_gene_variant OV-AU 9 33938392 33938392 single base substitution G C intron_variant OV-AU 9 33938392 33938392 single base substitution G C upstream_gene_variant OV-AU 9 33951389 33951389 single base substitution G T intron_variant OV-AU 9 33951389 33951389 single base substitution G T upstream_gene_variant OV-AU 9 33953216 33953216 single base substitution T C intron_variant OV-AU 9 33953216 33953216 single base substitution T C upstream_gene_variant OV-AU 9 33963519 33963519 single base substitution G A intron_variant OV-AU 9 33983260 33983260 single base substitution A T intron_variant OV-AU 9 33987740 33987740 single base substitution A G intron_variant OV-AU 9 33990759 33990759 single base substitution C T downstream_gene_variant OV-AU 9 33990759 33990759 single base substitution C T intron_variant OV-AU 9 33990759 33990759 single base substitution C T upstream_gene_variant OV-AU 9 33997274 33997274 single base substitution C T exon_variant OV-AU 9 33997274 33997274 single base substitution C T intron_variant OV-AU 9 33999637 33999637 single base substitution C T intron_variant OV-AU 9 34012627 34012627 single base substitution C G intron_variant OV-AU 9 34014433 34014433 single base substitution G T intron_variant OV-AU 9 34016395 34016395 single base substitution T C intron_variant OV-AU 9 34017701 34017701 single base substitution G C intron_variant OV-AU 9 34018425 34018425 single base substitution A G intron_variant OV-AU 9 34018886 34018886 single base substitution T C intron_variant OV-AU 9 34019361 34019361 single base substitution A G intron_variant OV-AU 9 34022377 34022377 single base substitution G A intron_variant OV-AU 9 34023067 34023067 single base substitution A C intron_variant OV-AU 9 34023196 34023196 single base substitution G A intron_variant OV-AU 9 34023667 34023667 single base substitution G C intron_variant OV-AU 9 34024523 34024523 single base substitution T G intron_variant OV-AU 9 34045623 34045623 single base substitution G A intron_variant OV-AU 9 34050649 34050649 single base substitution C A upstream_gene_variant OV-AU 9 34053263 34053263 single base substitution G A upstream_gene_variant OV-US 9 33935776 33935776 single base substitution A G intron_variant OV-US 9 33935776 33935776 single base substitution A G missense_variant I310T 929T>C OV-US 9 33935776 33935776 single base substitution A G upstream_gene_variant OV-US 9 33953309 33953309 single base substitution C T exon_variant OV-US 9 33953309 33953309 single base substitution C T missense_variant V198I 592G>A OV-US 9 33953309 33953309 single base substitution C T missense_variant V291I 871G>A OV-US 9 33953309 33953309 single base substitution C T missense_variant V344I 1030G>A OV-US 9 33953309 33953309 single base substitution C T missense_variant V77I 229G>A OV-US 9 33953309 33953309 single base substitution C T missense_variant V99I 295G>A OV-US 9 33953309 33953309 single base substitution C T upstream_gene_variant OV-US 9 33986812 33986812 single base substitution C G 5_prime_UTR_variant OV-US 9 33986812 33986812 single base substitution C G intron_variant OV-US 9 33986812 33986812 single base substitution C G missense_variant D156H 466G>C OV-US 9 33986812 33986812 single base substitution C G missense_variant D32H 94G>C PACA-AU 9 33917491 33917491 single base substitution T A downstream_gene_variant PACA-AU 9 33917715 33917715 single base substitution A G downstream_gene_variant PACA-AU 9 33918216 33918216 single base substitution C T downstream_gene_variant PACA-AU 9 33919005 33919005 single base substitution A C downstream_gene_variant PACA-AU 9 33929673 33929695 deletion of <=200bp AAGACCTGACAAAAAAAGGAACC - intron_variant PACA-AU 9 33929673 33929695 deletion of <=200bp AAGACCTGACAAAAAAAGGAACC - upstream_gene_variant PACA-AU 9 33937922 33937922 single base substitution T C intron_variant PACA-AU 9 33937922 33937922 single base substitution T C upstream_gene_variant PACA-AU 9 33938876 33938876 single base substitution A G intron_variant PACA-AU 9 33938876 33938876 single base substitution A G upstream_gene_variant PACA-AU 9 33939517 33939517 single base substitution C A downstream_gene_variant PACA-AU 9 33939517 33939517 single base substitution C A intron_variant PACA-AU 9 33950648 33950648 single base substitution A C intron_variant PACA-AU 9 33950648 33950648 single base substitution A C upstream_gene_variant PACA-AU 9 33951501 33951501 single base substitution C T intron_variant PACA-AU 9 33951501 33951501 single base substitution C T upstream_gene_variant PACA-AU 9 33956957 33956957 single base substitution G T intron_variant PACA-AU 9 33960047 33960047 single base substitution C T intron_variant PACA-AU 9 33962183 33962183 deletion of <=200bp A - intron_variant PACA-AU 9 33971177 33971177 single base substitution A G intron_variant PACA-AU 9 33975015 33975015 single base substitution C G intron_variant PACA-AU 9 33981134 33981134 single base substitution A T intron_variant PACA-AU 9 33982302 33982310 deletion of <=200bp ATATACTCT - intron_variant PACA-AU 9 33982370 33982370 single base substitution C G intron_variant PACA-AU 9 33982946 33982946 single base substitution C G intron_variant PACA-AU 9 33983580 33983580 single base substitution C A intron_variant PACA-AU 9 33987137 33987137 single base substitution A G intron_variant PACA-AU 9 33987146 33987146 single base substitution C T intron_variant PACA-AU 9 33989579 33989579 single base substitution A G downstream_gene_variant PACA-AU 9 33989579 33989579 single base substitution A G intron_variant PACA-AU 9 33989579 33989579 single base substitution A G upstream_gene_variant PACA-AU 9 33994852 33994852 single base substitution G A downstream_gene_variant PACA-AU 9 33994852 33994852 single base substitution G A exon_variant PACA-AU 9 33994852 33994852 single base substitution G A intron_variant PACA-AU 9 34004639 34004639 single base substitution G A intron_variant PACA-AU 9 34007258 34007258 single base substitution G A intron_variant PACA-AU 9 34010770 34010770 single base substitution T A intron_variant PACA-AU 9 34013654 34013654 single base substitution C A intron_variant PACA-AU 9 34015278 34015287 deletion of <=200bp GAGGAGGAGG - intron_variant PACA-AU 9 34020153 34020153 single base substitution A T intron_variant PACA-AU 9 34024513 34024513 single base substitution A G intron_variant PACA-AU 9 34028524 34028524 single base substitution C A intron_variant PACA-AU 9 34037740 34037740 single base substitution C T intron_variant PACA-AU 9 34043867 34043867 single base substitution T A intron_variant PACA-AU 9 34044161 34044161 single base substitution C T intron_variant PACA-AU 9 34047398 34047398 single base substitution A T intron_variant PACA-AU 9 34048830 34048830 single base substitution G T 5_prime_UTR_variant PACA-AU 9 34048830 34048830 single base substitution G T exon_variant PACA-AU 9 34048830 34048830 single base substitution G T intron_variant PACA-AU 9 34050283 34050283 single base substitution G C upstream_gene_variant PACA-CA 9 33916809 33916809 single base substitution C T downstream_gene_variant PACA-CA 9 33918206 33918206 single base substitution C A downstream_gene_variant PACA-CA 9 33924944 33924944 single base substitution T C downstream_gene_variant PACA-CA 9 33924944 33924944 single base substitution T C intron_variant PACA-CA 9 33926856 33926856 single base substitution G C downstream_gene_variant PACA-CA 9 33926856 33926856 single base substitution G C intron_variant PACA-CA 9 33927812 33927812 single base substitution G A 3_prime_UTR_variant PACA-CA 9 33927812 33927812 single base substitution G A downstream_gene_variant PACA-CA 9 33927812 33927812 single base substitution G A exon_variant PACA-CA 9 33927812 33927812 single base substitution G A missense_variant A24V 71C>T PACA-CA 9 33927812 33927812 single base substitution G A missense_variant A518V 1553C>T PACA-CA 9 33927812 33927812 single base substitution G A missense_variant A540V 1619C>T PACA-CA 9 33927812 33927812 single base substitution G A missense_variant A785V 2354C>T PACA-CA 9 33930132 33930132 single base substitution T C intron_variant PACA-CA 9 33930132 33930132 single base substitution T C upstream_gene_variant PACA-CA 9 33930751 33930751 single base substitution G A downstream_gene_variant PACA-CA 9 33930751 33930751 single base substitution G A intron_variant PACA-CA 9 33930751 33930751 single base substitution G A upstream_gene_variant PACA-CA 9 33936599 33936599 single base substitution G A intron_variant PACA-CA 9 33936599 33936599 single base substitution G A upstream_gene_variant PACA-CA 9 33940415 33940415 single base substitution A T downstream_gene_variant PACA-CA 9 33940415 33940415 single base substitution A T intron_variant PACA-CA 9 33940443 33940443 single base substitution G A downstream_gene_variant PACA-CA 9 33940443 33940443 single base substitution G A intron_variant PACA-CA 9 33942779 33942779 single base substitution T G downstream_gene_variant PACA-CA 9 33942779 33942779 single base substitution T G intron_variant PACA-CA 9 33942779 33942779 single base substitution T G upstream_gene_variant PACA-CA 9 33943295 33943295 single base substitution T C downstream_gene_variant PACA-CA 9 33943295 33943295 single base substitution T C intron_variant PACA-CA 9 33943295 33943295 single base substitution T C upstream_gene_variant PACA-CA 9 33947326 33947326 single base substitution A G downstream_gene_variant PACA-CA 9 33947326 33947326 single base substitution A G intron_variant PACA-CA 9 33947552 33947552 single base substitution G A downstream_gene_variant PACA-CA 9 33947552 33947552 single base substitution G A intron_variant PACA-CA 9 33952866 33952866 deletion of <=200bp T - intron_variant PACA-CA 9 33952866 33952866 deletion of <=200bp T - upstream_gene_variant PACA-CA 9 33968738 33968738 single base substitution T C intron_variant PACA-CA 9 33968738 33968738 single base substitution T C upstream_gene_variant PACA-CA 9 33972289 33972289 single base substitution A C intron_variant PACA-CA 9 33975299 33975299 single base substitution G A intron_variant PACA-CA 9 33979985 33979985 single base substitution T A intron_variant PACA-CA 9 33990459 33990459 single base substitution T C downstream_gene_variant PACA-CA 9 33990459 33990459 single base substitution T C intron_variant PACA-CA 9 33990459 33990459 single base substitution T C upstream_gene_variant PACA-CA 9 33993335 33993335 single base substitution A G downstream_gene_variant PACA-CA 9 33993335 33993335 single base substitution A G intron_variant PACA-CA 9 33993335 33993335 single base substitution A G upstream_gene_variant PACA-CA 9 33993394 33993394 single base substitution T C downstream_gene_variant PACA-CA 9 33993394 33993394 single base substitution T C intron_variant PACA-CA 9 33993394 33993394 single base substitution T C upstream_gene_variant PACA-CA 9 33995863 33995863 single base substitution G C downstream_gene_variant PACA-CA 9 33995863 33995863 single base substitution G C exon_variant PACA-CA 9 33995863 33995863 single base substitution G C intron_variant PACA-CA 9 34002681 34002681 deletion of <=200bp T - intron_variant PACA-CA 9 34007640 34007640 insertion of <=200bp - T intron_variant PACA-CA 9 34008460 34008460 single base substitution A G intron_variant PACA-CA 9 34016038 34016038 single base substitution T C intron_variant PACA-CA 9 34016169 34016169 single base substitution G A intron_variant PACA-CA 9 34016846 34016846 single base substitution G A intron_variant PACA-CA 9 34019067 34019067 single base substitution C G intron_variant PACA-CA 9 34023245 34023245 single base substitution T C intron_variant PACA-CA 9 34023524 34023524 single base substitution G C intron_variant PACA-CA 9 34024086 34024086 insertion of <=200bp - T intron_variant PACA-CA 9 34026485 34026485 single base substitution T C intron_variant PACA-CA 9 34028896 34028896 single base substitution G A intron_variant PACA-CA 9 34029122 34029122 insertion of <=200bp - A intron_variant PACA-CA 9 34036093 34036093 single base substitution C A intron_variant PACA-CA 9 34036362 34036362 single base substitution G A intron_variant PACA-CA 9 34042617 34042617 single base substitution T A intron_variant PACA-CA 9 34048877 34048877 single base substitution T G 5_prime_UTR_variant PACA-CA 9 34048877 34048877 single base substitution T G exon_variant PACA-CA 9 34048877 34048877 single base substitution T G splice_region_variant PACA-CA 9 34048877 34048877 single base substitution T G upstream_gene_variant PACA-CA 9 34049237 34049237 single base substitution C T upstream_gene_variant PACA-CA 9 34049975 34049975 single base substitution C G upstream_gene_variant PACA-CA 9 34050674 34050674 single base substitution C T upstream_gene_variant PAEN-AU 9 33961159 33961159 single base substitution A G intron_variant PAEN-AU 9 33981262 33981262 single base substitution G T intron_variant PAEN-AU 9 34020911 34020911 single base substitution C T intron_variant PAEN-AU 9 34039252 34039252 single base substitution G A intron_variant PAEN-IT 9 33929691 33929691 single base substitution G C intron_variant PAEN-IT 9 33929691 33929691 single base substitution G C upstream_gene_variant PAEN-IT 9 33942139 33942139 single base substitution G A downstream_gene_variant PAEN-IT 9 33942139 33942139 single base substitution G A intron_variant PAEN-IT 9 33942139 33942139 single base substitution G A upstream_gene_variant PAEN-IT 9 33975612 33975612 single base substitution C T intron_variant PAEN-IT 9 34015738 34015738 single base substitution C T intron_variant PBCA-DE 9 33917973 33917973 single base substitution C A downstream_gene_variant PBCA-DE 9 33925294 33925294 single base substitution C A downstream_gene_variant PBCA-DE 9 33925294 33925294 single base substitution C A intron_variant PBCA-DE 9 33928378 33928378 single base substitution A G 5_prime_UTR_variant PBCA-DE 9 33928378 33928378 single base substitution A G exon_variant PBCA-DE 9 33928378 33928378 single base substitution A G intron_variant PBCA-DE 9 33934062 33934062 single base substitution G A downstream_gene_variant PBCA-DE 9 33934062 33934062 single base substitution G A exon_variant PBCA-DE 9 33934062 33934062 single base substitution G A intron_variant PBCA-DE 9 33938641 33938641 insertion of <=200bp - AAA intron_variant PBCA-DE 9 33938641 33938641 insertion of <=200bp - AAA upstream_gene_variant PBCA-DE 9 33955652 33955652 insertion of <=200bp - CC intron_variant PBCA-DE 9 33955671 33955671 insertion of <=200bp - A intron_variant PBCA-DE 9 33959902 33959902 insertion of <=200bp - A intron_variant PBCA-DE 9 33971181 33971181 single base substitution T C intron_variant PBCA-DE 9 33971830 33971830 single base substitution C T intron_variant PBCA-DE 9 33980054 33980054 single base substitution G A intron_variant PBCA-DE 9 33982518 33982518 single base substitution G A intron_variant PBCA-DE 9 33991556 33991556 single base substitution C G downstream_gene_variant PBCA-DE 9 33991556 33991556 single base substitution C G intron_variant PBCA-DE 9 33991556 33991556 single base substitution C G upstream_gene_variant PBCA-DE 9 33998954 33998955 deletion of <=200bp CT - intron_variant PBCA-DE 9 33999793 33999793 single base substitution C T intron_variant PBCA-DE 9 34004563 34004563 insertion of <=200bp - CT intron_variant PBCA-DE 9 34009106 34009106 deletion of <=200bp T - intron_variant PBCA-DE 9 34013875 34013875 insertion of <=200bp - A intron_variant PBCA-DE 9 34022081 34022081 insertion of <=200bp - A intron_variant PBCA-DE 9 34039754 34039755 deletion of <=200bp TT - intron_variant PBCA-DE 9 34047016 34047016 single base substitution G C intron_variant PBCA-DE 9 34047286 34047286 single base substitution T C intron_variant PBCA-DE 9 34049492 34049492 single base substitution A G upstream_gene_variant PBCA-DE 9 34053288 34053288 single base substitution G A upstream_gene_variant PRAD-CA 9 33965774 33965774 single base substitution C T intron_variant PRAD-CA 9 33965774 33965774 single base substitution C T upstream_gene_variant PRAD-CA 9 33969565 33969565 single base substitution A G intron_variant PRAD-CA 9 34003069 34003069 single base substitution C T intron_variant PRAD-CA 9 34003878 34003878 single base substitution C T intron_variant PRAD-CA 9 34019588 34019588 single base substitution C T intron_variant PRAD-CA 9 34048601 34048601 single base substitution A G intron_variant PRAD-CA 9 34051502 34051502 single base substitution C A upstream_gene_variant PRAD-UK 9 33923459 33923459 single base substitution G A downstream_gene_variant PRAD-UK 9 33923459 33923459 single base substitution G A synonymous_variant A177A 531C>T PRAD-UK 9 33923459 33923459 single base substitution G A synonymous_variant A671A 2013C>T PRAD-UK 9 33923459 33923459 single base substitution G A synonymous_variant A693A 2079C>T PRAD-UK 9 33923459 33923459 single base substitution G A synonymous_variant A938A 2814C>T PRAD-UK 9 33926913 33926913 single base substitution G A downstream_gene_variant PRAD-UK 9 33926913 33926913 single base substitution G A intron_variant PRAD-UK 9 33966901 33966901 single base substitution T A intron_variant PRAD-UK 9 33966901 33966901 single base substitution T A upstream_gene_variant PRAD-UK 9 33981766 33981766 single base substitution T A intron_variant PRAD-UK 9 33985240 33985240 single base substitution A G intron_variant PRAD-UK 9 34010620 34010620 single base substitution T C intron_variant PRAD-UK 9 34032963 34032963 single base substitution C T intron_variant PRAD-UK 9 34035881 34035881 single base substitution C T intron_variant PRAD-UK 9 34036476 34036476 single base substitution G C intron_variant PRAD-UK 9 34039268 34039268 single base substitution G A intron_variant PRAD-UK 9 34046507 34046507 single base substitution T A intron_variant PRAD-US 9 33923825 33923825 single base substitution G A downstream_gene_variant PRAD-US 9 33923825 33923825 single base substitution G A exon_variant PRAD-US 9 33923825 33923825 single base substitution G A missense_variant P161S 481C>T PRAD-US 9 33923825 33923825 single base substitution G A missense_variant P655S 1963C>T PRAD-US 9 33923825 33923825 single base substitution G A missense_variant P677S 2029C>T PRAD-US 9 33923825 33923825 single base substitution G A missense_variant P922S 2764C>T PRAD-US 9 33989021 33989021 single base substitution C T 5_prime_UTR_variant PRAD-US 9 33989021 33989021 single base substitution C T intron_variant PRAD-US 9 33989021 33989021 single base substitution C T missense_variant G131E 392G>A PRAD-US 9 33989021 33989021 single base substitution C T missense_variant G7E 20G>A READ-US 9 33927851 33927851 single base substitution C T 3_prime_UTR_variant READ-US 9 33927851 33927851 single base substitution C T exon_variant READ-US 9 33927851 33927851 single base substitution C T missense_variant G11E 32G>A READ-US 9 33927851 33927851 single base substitution C T missense_variant G505E 1514G>A READ-US 9 33927851 33927851 single base substitution C T missense_variant G527E 1580G>A READ-US 9 33927851 33927851 single base substitution C T missense_variant G772E 2315G>A READ-US 9 33935857 33935857 single base substitution C T exon_variant READ-US 9 33935857 33935857 single base substitution C T missense_variant R283Q 848G>A READ-US 9 33935857 33935857 single base substitution C T missense_variant R383Q 1148G>A READ-US 9 33935857 33935857 single base substitution C T missense_variant R405Q 1214G>A READ-US 9 33935857 33935857 single base substitution C T missense_variant R597Q 1790G>A READ-US 9 33935857 33935857 single base substitution C T missense_variant R650Q 1949G>A READ-US 9 33935857 33935857 single base substitution C T upstream_gene_variant RECA-EU 9 33917139 33917139 single base substitution C T downstream_gene_variant RECA-EU 9 33920047 33920047 single base substitution T C downstream_gene_variant RECA-EU 9 33920921 33920921 single base substitution A G downstream_gene_variant RECA-EU 9 33923851 33923851 single base substitution G C downstream_gene_variant RECA-EU 9 33923851 33923851 single base substitution G C exon_variant RECA-EU 9 33923851 33923851 single base substitution G C missense_variant T152S 455C>G RECA-EU 9 33923851 33923851 single base substitution G C missense_variant T646S 1937C>G RECA-EU 9 33923851 33923851 single base substitution G C missense_variant T668S 2003C>G RECA-EU 9 33923851 33923851 single base substitution G C missense_variant T913S 2738C>G RECA-EU 9 33928320 33928320 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant RECA-EU 9 33928320 33928320 single base substitution T A intron_variant RECA-EU 9 33930357 33930357 single base substitution A T downstream_gene_variant RECA-EU 9 33930357 33930357 single base substitution A T intron_variant RECA-EU 9 33930357 33930357 single base substitution A T upstream_gene_variant RECA-EU 9 33930513 33930513 single base substitution T A downstream_gene_variant RECA-EU 9 33930513 33930513 single base substitution T A intron_variant RECA-EU 9 33930513 33930513 single base substitution T A upstream_gene_variant RECA-EU 9 33936153 33936153 single base substitution G A intron_variant RECA-EU 9 33936153 33936153 single base substitution G A upstream_gene_variant RECA-EU 9 33970381 33970381 single base substitution G A intron_variant RECA-EU 9 33970496 33970496 single base substitution T C intron_variant RECA-EU 9 33979827 33979827 single base substitution C T intron_variant RECA-EU 9 33986494 33986494 single base substitution T G intron_variant RECA-EU 9 33988853 33988853 single base substitution T G intron_variant RECA-EU 9 33994866 33994866 single base substitution A G downstream_gene_variant RECA-EU 9 33994866 33994866 single base substitution A G exon_variant RECA-EU 9 33994866 33994866 single base substitution A G intron_variant RECA-EU 9 33997788 33997788 single base substitution C T exon_variant RECA-EU 9 33997788 33997788 single base substitution C T intron_variant RECA-EU 9 34006480 34006480 single base substitution C A intron_variant RECA-EU 9 34023472 34023472 single base substitution T C intron_variant RECA-EU 9 34043539 34043539 single base substitution T C intron_variant SKCA-BR 9 33925536 33925536 single base substitution C T downstream_gene_variant SKCA-BR 9 33925536 33925536 single base substitution C T intron_variant SKCA-BR 9 33926921 33926921 single base substitution C T downstream_gene_variant SKCA-BR 9 33926921 33926921 single base substitution C T intron_variant SKCA-BR 9 33932338 33932338 single base substitution A G downstream_gene_variant SKCA-BR 9 33932338 33932338 single base substitution A G intron_variant SKCA-BR 9 33932338 33932338 single base substitution A G upstream_gene_variant SKCA-BR 9 33932692 33932692 single base substitution G A downstream_gene_variant SKCA-BR 9 33932692 33932692 single base substitution G A intron_variant SKCA-BR 9 33932692 33932692 single base substitution G A upstream_gene_variant SKCA-BR 9 33932855 33932855 single base substitution G A downstream_gene_variant SKCA-BR 9 33932855 33932855 single base substitution G A intron_variant SKCA-BR 9 33932855 33932855 single base substitution G A upstream_gene_variant SKCA-BR 9 33933896 33933896 single base substitution G A downstream_gene_variant SKCA-BR 9 33933896 33933896 single base substitution G A intron_variant SKCA-BR 9 33934271 33934271 single base substitution T C downstream_gene_variant SKCA-BR 9 33934271 33934271 single base substitution T C exon_variant SKCA-BR 9 33934271 33934271 single base substitution T C intron_variant SKCA-BR 9 33936895 33936895 single base substitution A C intron_variant SKCA-BR 9 33936895 33936895 single base substitution A C upstream_gene_variant SKCA-BR 9 33937575 33937575 single base substitution G A intron_variant SKCA-BR 9 33937575 33937575 single base substitution G A upstream_gene_variant SKCA-BR 9 33938793 33938794 deletion of <=200bp CA - intron_variant SKCA-BR 9 33938793 33938794 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 9 33942191 33942191 single base substitution T C downstream_gene_variant SKCA-BR 9 33942191 33942191 single base substitution T C intron_variant SKCA-BR 9 33942191 33942191 single base substitution T C upstream_gene_variant SKCA-BR 9 33951155 33951156 deletion of <=200bp GA - intron_variant SKCA-BR 9 33951155 33951156 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 9 33951158 33951158 single base substitution T G intron_variant SKCA-BR 9 33951158 33951158 single base substitution T G upstream_gene_variant SKCA-BR 9 33951159 33951159 single base substitution A C intron_variant SKCA-BR 9 33951159 33951159 single base substitution A C upstream_gene_variant SKCA-BR 9 33951966 33951966 single base substitution C T intron_variant SKCA-BR 9 33951966 33951966 single base substitution C T upstream_gene_variant SKCA-BR 9 33952935 33952935 single base substitution A T intron_variant SKCA-BR 9 33952935 33952935 single base substitution A T upstream_gene_variant SKCA-BR 9 33953608 33953608 single base substitution G A intron_variant SKCA-BR 9 33953608 33953608 single base substitution G A upstream_gene_variant SKCA-BR 9 33954267 33954267 insertion of <=200bp - TACACACACACAC intron_variant SKCA-BR 9 33955179 33955179 insertion of <=200bp - CA intron_variant SKCA-BR 9 33960105 33960105 insertion of <=200bp - AT intron_variant SKCA-BR 9 33960120 33960120 single base substitution G A intron_variant SKCA-BR 9 33962643 33962643 insertion of <=200bp - AAAAT intron_variant SKCA-BR 9 33962646 33962646 single base substitution A G intron_variant SKCA-BR 9 33962670 33962670 insertion of <=200bp - ATAAT intron_variant SKCA-BR 9 33962674 33962674 insertion of <=200bp - ATAAT intron_variant SKCA-BR 9 33962678 33962678 insertion of <=200bp - ATAAT intron_variant SKCA-BR 9 33965775 33965775 single base substitution G A intron_variant SKCA-BR 9 33965775 33965775 single base substitution G A upstream_gene_variant SKCA-BR 9 33966513 33966513 single base substitution G A intron_variant SKCA-BR 9 33966513 33966513 single base substitution G A upstream_gene_variant SKCA-BR 9 33969855 33969855 single base substitution A C intron_variant SKCA-BR 9 33973062 33973062 single base substitution A C intron_variant SKCA-BR 9 33974948 33974948 single base substitution C G intron_variant SKCA-BR 9 33978313 33978313 single base substitution C A intron_variant SKCA-BR 9 33980408 33980408 insertion of <=200bp - AT intron_variant SKCA-BR 9 33981062 33981117 deletion of <=200bp CATATATATATATATATATATATATATATATATATTCTGGATATATATATATATAT - intron_variant SKCA-BR 9 33981101 33981107 deletion of <=200bp GATATAT - intron_variant SKCA-BR 9 33981140 33981140 insertion of <=200bp - GAT intron_variant SKCA-BR 9 33981161 33981163 deletion of <=200bp GAT - intron_variant SKCA-BR 9 33981281 33981302 deletion of <=200bp GATATATATATATATTCTGGAT - intron_variant SKCA-BR 9 33981300 33981302 deletion of <=200bp GAT - intron_variant SKCA-BR 9 33981784 33981784 single base substitution G A intron_variant SKCA-BR 9 33982440 33982440 single base substitution G A intron_variant SKCA-BR 9 33984682 33984682 insertion of <=200bp - GA intron_variant SKCA-BR 9 33988457 33988457 single base substitution A C intron_variant SKCA-BR 9 33992387 33992387 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 9 33992387 33992387 insertion of <=200bp - CAA intron_variant SKCA-BR 9 33992387 33992387 insertion of <=200bp - CAA upstream_gene_variant SKCA-BR 9 33992591 33992591 single base substitution C T downstream_gene_variant SKCA-BR 9 33992591 33992591 single base substitution C T intron_variant SKCA-BR 9 33992591 33992591 single base substitution C T upstream_gene_variant SKCA-BR 9 33992656 33992656 single base substitution A G downstream_gene_variant SKCA-BR 9 33992656 33992656 single base substitution A G intron_variant SKCA-BR 9 33992656 33992656 single base substitution A G upstream_gene_variant SKCA-BR 9 33995537 33995537 insertion of <=200bp - TTAAA downstream_gene_variant SKCA-BR 9 33995537 33995537 insertion of <=200bp - TTAAA exon_variant SKCA-BR 9 33995537 33995537 insertion of <=200bp - TTAAA intron_variant SKCA-BR 9 33995553 33995558 deletion of <=200bp ATAATT - downstream_gene_variant SKCA-BR 9 33995553 33995558 deletion of <=200bp ATAATT - exon_variant SKCA-BR 9 33995553 33995558 deletion of <=200bp ATAATT - intron_variant SKCA-BR 9 33999900 33999905 deletion of <=200bp GTATGT - intron_variant SKCA-BR 9 34003331 34003331 single base substitution G A intron_variant SKCA-BR 9 34004798 34004798 single base substitution G A intron_variant SKCA-BR 9 34006269 34006269 single base substitution T C intron_variant SKCA-BR 9 34007640 34007640 single base substitution A T intron_variant SKCA-BR 9 34008130 34008130 insertion of <=200bp - CA intron_variant SKCA-BR 9 34009051 34009051 single base substitution A G intron_variant SKCA-BR 9 34009354 34009354 single base substitution C T intron_variant SKCA-BR 9 34009804 34009804 insertion of <=200bp - CT intron_variant SKCA-BR 9 34011945 34011945 single base substitution G A intron_variant SKCA-BR 9 34012721 34012721 single base substitution G A intron_variant SKCA-BR 9 34016175 34016193 deletion of <=200bp GAGGAAGAGGAGGAATAGA - intron_variant SKCA-BR 9 34016270 34016279 deletion of <=200bp GAAGGAGGAA - intron_variant SKCA-BR 9 34017512 34017512 single base substitution A C intron_variant SKCA-BR 9 34017546 34017546 single base substitution A C intron_variant SKCA-BR 9 34018404 34018404 single base substitution G A intron_variant SKCA-BR 9 34020377 34020377 single base substitution G A intron_variant SKCA-BR 9 34027945 34027945 single base substitution G A intron_variant SKCA-BR 9 34028359 34028359 insertion of <=200bp - CTTAT intron_variant SKCA-BR 9 34030230 34030230 single base substitution T G intron_variant SKCA-BR 9 34031120 34031120 single base substitution A G intron_variant SKCA-BR 9 34032137 34032137 single base substitution T A intron_variant SKCA-BR 9 34032214 34032214 single base substitution G A intron_variant SKCA-BR 9 34032914 34032914 insertion of <=200bp - CA intron_variant SKCA-BR 9 34040254 34040254 single base substitution G A intron_variant SKCA-BR 9 34040321 34040325 deletion of <=200bp CAAAA - intron_variant SKCA-BR 9 34040922 34040922 single base substitution A T intron_variant SKCA-BR 9 34041420 34041420 single base substitution A C intron_variant SKCA-BR 9 34042470 34042470 single base substitution C T intron_variant SKCA-BR 9 34042769 34042769 insertion of <=200bp - CT intron_variant SKCA-BR 9 34044088 34044089 deletion of <=200bp CA - intron_variant SKCA-BR 9 34045609 34045609 single base substitution A C intron_variant SKCA-BR 9 34048939 34048939 single base substitution T G 5_prime_UTR_variant SKCA-BR 9 34048939 34048939 single base substitution T G upstream_gene_variant SKCA-BR 9 34049513 34049513 single base substitution T G upstream_gene_variant SKCA-BR 9 34049518 34049518 single base substitution T G upstream_gene_variant SKCA-BR 9 34050952 34050952 single base substitution C T upstream_gene_variant SKCA-BR 9 34051726 34051726 single base substitution C T upstream_gene_variant SKCA-BR 9 34052462 34052465 deletion of <=200bp AAAG - upstream_gene_variant SKCM-US 9 33922684 33922684 single base substitution C T downstream_gene_variant SKCM-US 9 33922684 33922684 single base substitution C T splice_donor_variant SKCM-US 9 33923424 33923424 single base substitution G A downstream_gene_variant SKCM-US 9 33923424 33923424 single base substitution G A missense_variant P189L 566C>T SKCM-US 9 33923424 33923424 single base substitution G A missense_variant P683L 2048C>T SKCM-US 9 33923424 33923424 single base substitution G A missense_variant P705L 2114C>T SKCM-US 9 33923424 33923424 single base substitution G A missense_variant P950L 2849C>T SKCM-US 9 33923820 33923820 single base substitution A T downstream_gene_variant SKCM-US 9 33923820 33923820 single base substitution A T missense_variant S162R 486T>A SKCM-US 9 33923820 33923820 single base substitution A T missense_variant S656R 1968T>A SKCM-US 9 33923820 33923820 single base substitution A T missense_variant S678R 2034T>A SKCM-US 9 33923820 33923820 single base substitution A T missense_variant S923R 2769T>A SKCM-US 9 33944535 33944535 single base substitution G A downstream_gene_variant SKCM-US 9 33944535 33944535 single base substitution G A missense_variant S191F 572C>T SKCM-US 9 33944535 33944535 single base substitution G A missense_variant S213F 638C>T SKCM-US 9 33944535 33944535 single base substitution G A missense_variant S405F 1214C>T SKCM-US 9 33944535 33944535 single base substitution G A missense_variant S458F 1373C>T SKCM-US 9 33944535 33944535 single base substitution G A missense_variant S91F 272C>T SKCM-US 9 33944535 33944535 single base substitution G A upstream_gene_variant SKCM-US 9 33956124 33956124 single base substitution G A intron_variant SKCM-US 9 33956124 33956124 single base substitution G A synonymous_variant F127F 381C>T SKCM-US 9 33956124 33956124 single base substitution G A synonymous_variant F220F 660C>T SKCM-US 9 33956124 33956124 single base substitution G A synonymous_variant F273F 819C>T SKCM-US 9 33956124 33956124 single base substitution G A synonymous_variant F28F 84C>T SKCM-US 9 33960857 33960857 single base substitution C T exon_variant SKCM-US 9 33960857 33960857 single base substitution C T intron_variant SKCM-US 9 33960857 33960857 single base substitution C T stop_gained W11* 32G>A SKCM-US 9 33960857 33960857 single base substitution C T synonymous_variant V109V 327G>A SKCM-US 9 33960857 33960857 single base substitution C T synonymous_variant V202V 606G>A SKCM-US 9 33960857 33960857 single base substitution C T synonymous_variant V255V 765G>A SKCM-US 9 33971691 33971691 single base substitution C T intron_variant SKCM-US 9 33971691 33971691 single base substitution C T missense_variant V213I 637G>A SKCM-US 9 33971691 33971691 single base substitution C T missense_variant V89I 265G>A SKCM-US 9 33989090 33989090 single base substitution T A 5_prime_UTR_variant SKCM-US 9 33989090 33989090 single base substitution T A intron_variant SKCM-US 9 33989090 33989090 single base substitution T A missense_variant N108I 323A>T SKCM-US 9 33989090 33989090 single base substitution T A upstream_gene_variant STAD-US 9 33922786 33922786 single base substitution C G downstream_gene_variant STAD-US 9 33922786 33922786 single base substitution C G missense_variant A1055P 3163G>C STAD-US 9 33922786 33922786 single base substitution C G missense_variant A294P 880G>C STAD-US 9 33922786 33922786 single base substitution C G missense_variant A788P 2362G>C STAD-US 9 33922786 33922786 single base substitution C G missense_variant A810P 2428G>C STAD-US 9 33927811 33927811 single base substitution C T 3_prime_UTR_variant STAD-US 9 33927811 33927811 single base substitution C T downstream_gene_variant STAD-US 9 33927811 33927811 single base substitution C T exon_variant STAD-US 9 33927811 33927811 single base substitution C T synonymous_variant A24A 72G>A STAD-US 9 33927811 33927811 single base substitution C T synonymous_variant A518A 1554G>A STAD-US 9 33927811 33927811 single base substitution C T synonymous_variant A540A 1620G>A STAD-US 9 33927811 33927811 single base substitution C T synonymous_variant A785A 2355G>A STAD-US 9 33927924 33927924 single base substitution C T 5_prime_UTR_variant STAD-US 9 33927924 33927924 single base substitution C T exon_variant STAD-US 9 33927924 33927924 single base substitution C T missense_variant V481I 1441G>A STAD-US 9 33927924 33927924 single base substitution C T missense_variant V503I 1507G>A STAD-US 9 33927924 33927924 single base substitution C T missense_variant V748I 2242G>A STAD-US 9 33927924 33927924 single base substitution C T synonymous_variant P672P 2016G>A STAD-US 9 33943446 33943446 single base substitution G A downstream_gene_variant STAD-US 9 33943446 33943446 single base substitution G A missense_variant P196S 586C>T STAD-US 9 33943446 33943446 single base substitution G A missense_variant P296S 886C>T STAD-US 9 33943446 33943446 single base substitution G A missense_variant P318S 952C>T STAD-US 9 33943446 33943446 single base substitution G A missense_variant P510S 1528C>T STAD-US 9 33943446 33943446 single base substitution G A missense_variant P563S 1687C>T STAD-US 9 33943446 33943446 single base substitution G A upstream_gene_variant STAD-US 9 33944640 33944640 deletion of <=200bp A - downstream_gene_variant STAD-US 9 33944640 33944640 deletion of <=200bp A - intron_variant STAD-US 9 33944640 33944640 deletion of <=200bp A - splice_region_variant STAD-US 9 33944640 33944640 deletion of <=200bp A - upstream_gene_variant STAD-US 9 33948391 33948397 deletion of <=200bp GGACTGG - exon_variant STAD-US 9 33948391 33948397 deletion of <=200bp GGACTGG - frameshift_variant SQS148 STAD-US 9 33948391 33948397 deletion of <=200bp GGACTGG - frameshift_variant SQS170 STAD-US 9 33948391 33948397 deletion of <=200bp GGACTGG - frameshift_variant SQS269 STAD-US 9 33948391 33948397 deletion of <=200bp GGACTGG - frameshift_variant SQS362 STAD-US 9 33948391 33948397 deletion of <=200bp GGACTGG - frameshift_variant SQS415 STAD-US 9 33948391 33948397 deletion of <=200bp GGACTGG - frameshift_variant SQS48 STAD-US 9 33948487 33948487 single base substitution C A exon_variant STAD-US 9 33948487 33948487 single base substitution C A missense_variant L118F 354G>T STAD-US 9 33948487 33948487 single base substitution C A missense_variant L140F 420G>T STAD-US 9 33948487 33948487 single base substitution C A missense_variant L18F 54G>T STAD-US 9 33948487 33948487 single base substitution C A missense_variant L239F 717G>T STAD-US 9 33948487 33948487 single base substitution C A missense_variant L332F 996G>T STAD-US 9 33948487 33948487 single base substitution C A missense_variant L385F 1155G>T STAD-US 9 33948577 33948577 single base substitution G A 5_prime_UTR_variant STAD-US 9 33948577 33948577 single base substitution G A exon_variant STAD-US 9 33948577 33948577 single base substitution G A synonymous_variant V110V 330C>T STAD-US 9 33948577 33948577 single base substitution G A synonymous_variant V209V 627C>T STAD-US 9 33948577 33948577 single base substitution G A synonymous_variant V302V 906C>T STAD-US 9 33948577 33948577 single base substitution G A synonymous_variant V355V 1065C>T STAD-US 9 33948577 33948577 single base substitution G A synonymous_variant V88V 264C>T STAD-US 9 33953371 33953371 single base substitution A G exon_variant STAD-US 9 33953371 33953371 single base substitution A G missense_variant L177P 530T>C STAD-US 9 33953371 33953371 single base substitution A G missense_variant L270P 809T>C STAD-US 9 33953371 33953371 single base substitution A G missense_variant L323P 968T>C STAD-US 9 33953371 33953371 single base substitution A G missense_variant L56P 167T>C STAD-US 9 33953371 33953371 single base substitution A G missense_variant L78P 233T>C STAD-US 9 33953371 33953371 single base substitution A G upstream_gene_variant STAD-US 9 33953403 33953403 single base substitution T G exon_variant STAD-US 9 33953403 33953403 single base substitution T G missense_variant E166D 498A>C STAD-US 9 33953403 33953403 single base substitution T G missense_variant E259D 777A>C STAD-US 9 33953403 33953403 single base substitution T G missense_variant E312D 936A>C STAD-US 9 33953403 33953403 single base substitution T G missense_variant E45D 135A>C STAD-US 9 33953403 33953403 single base substitution T G missense_variant E67D 201A>C STAD-US 9 33953403 33953403 single base substitution T G upstream_gene_variant STAD-US 9 33973225 33973225 single base substitution A G intron_variant STAD-US 9 33973225 33973225 single base substitution A G synonymous_variant R177R 531T>C STAD-US 9 33973225 33973225 single base substitution A G synonymous_variant R53R 159T>C STAD-US 9 33988989 33988989 single base substitution C T 5_prime_UTR_variant STAD-US 9 33988989 33988989 single base substitution C T intron_variant STAD-US 9 33988989 33988989 single base substitution C T missense_variant G142S 424G>A STAD-US 9 33988989 33988989 single base substitution C T missense_variant G18S 52G>A STAD-US 9 33996302 33996302 single base substitution A G 5_prime_UTR_variant STAD-US 9 33996302 33996302 single base substitution A G downstream_gene_variant STAD-US 9 33996302 33996302 single base substitution A G exon_variant STAD-US 9 33996302 33996302 single base substitution A G intron_variant STAD-US 9 33996302 33996302 single base substitution A G synonymous_variant D69D 207T>C THCA-SA 9 33917498 33917498 single base substitution T C downstream_gene_variant THCA-SA 9 33921977 33921977 single base substitution G C 3_prime_UTR_variant THCA-SA 9 33921977 33921977 single base substitution G C downstream_gene_variant THCA-SA 9 33921977 33921977 single base substitution G C intron_variant THCA-SA 9 33941759 33941759 single base substitution T C downstream_gene_variant THCA-SA 9 33941759 33941759 single base substitution T C missense_variant N239S 716A>G THCA-SA 9 33941759 33941759 single base substitution T C missense_variant N339S 1016A>G THCA-SA 9 33941759 33941759 single base substitution T C missense_variant N361S 1082A>G THCA-SA 9 33941759 33941759 single base substitution T C missense_variant N553S 1658A>G THCA-SA 9 33941759 33941759 single base substitution T C missense_variant N606S 1817A>G THCA-SA 9 33941759 33941759 single base substitution T C upstream_gene_variant UCEC-US 9 33922583 33922583 single base substitution C T downstream_gene_variant UCEC-US 9 33922583 33922583 single base substitution C T synonymous_variant Q1093Q 3279G>A UCEC-US 9 33922583 33922583 single base substitution C T synonymous_variant Q332Q 996G>A UCEC-US 9 33922583 33922583 single base substitution C T synonymous_variant Q826Q 2478G>A UCEC-US 9 33922583 33922583 single base substitution C T synonymous_variant Q848Q 2544G>A UCEC-US 9 33922844 33922844 single base substitution C T downstream_gene_variant UCEC-US 9 33922844 33922844 single base substitution C T synonymous_variant T1035T 3105G>A UCEC-US 9 33922844 33922844 single base substitution C T synonymous_variant T274T 822G>A UCEC-US 9 33922844 33922844 single base substitution C T synonymous_variant T768T 2304G>A UCEC-US 9 33922844 33922844 single base substitution C T synonymous_variant T790T 2370G>A UCEC-US 9 33922847 33922847 single base substitution C T downstream_gene_variant UCEC-US 9 33922847 33922847 single base substitution C T synonymous_variant G1034G 3102G>A UCEC-US 9 33922847 33922847 single base substitution C T synonymous_variant G273G 819G>A UCEC-US 9 33922847 33922847 single base substitution C T synonymous_variant G767G 2301G>A UCEC-US 9 33922847 33922847 single base substitution C T synonymous_variant G789G 2367G>A UCEC-US 9 33923014 33923014 deletion of <=200bp T - downstream_gene_variant UCEC-US 9 33923014 33923014 deletion of <=200bp T - frameshift_variant S1008 UCEC-US 9 33923014 33923014 deletion of <=200bp T - frameshift_variant S247 UCEC-US 9 33923014 33923014 deletion of <=200bp T - frameshift_variant S741 UCEC-US 9 33923014 33923014 deletion of <=200bp T - frameshift_variant S763 UCEC-US 9 33923438 33923438 single base substitution G C downstream_gene_variant UCEC-US 9 33923438 33923438 single base substitution G C synonymous_variant L184L 552C>G UCEC-US 9 33923438 33923438 single base substitution G C synonymous_variant L678L 2034C>G UCEC-US 9 33923438 33923438 single base substitution G C synonymous_variant L700L 2100C>G UCEC-US 9 33923438 33923438 single base substitution G C synonymous_variant L945L 2835C>G UCEC-US 9 33927001 33927001 single base substitution G A downstream_gene_variant UCEC-US 9 33927001 33927001 single base substitution G A exon_variant UCEC-US 9 33927001 33927001 single base substitution G A missense_variant L550F 1648C>T UCEC-US 9 33927001 33927001 single base substitution G A missense_variant L56F 166C>T UCEC-US 9 33927001 33927001 single base substitution G A missense_variant L572F 1714C>T UCEC-US 9 33927001 33927001 single base substitution G A missense_variant L817F 2449C>T UCEC-US 9 33927891 33927891 single base substitution A G 5_prime_UTR_variant UCEC-US 9 33927891 33927891 single base substitution A G exon_variant UCEC-US 9 33927891 33927891 single base substitution A G missense_variant S492P 1474T>C UCEC-US 9 33927891 33927891 single base substitution A G missense_variant S514P 1540T>C UCEC-US 9 33927891 33927891 single base substitution A G missense_variant S759P 2275T>C UCEC-US 9 33927891 33927891 single base substitution A G synonymous_variant C683C 2049T>C UCEC-US 9 33927931 33927931 single base substitution C T 5_prime_UTR_variant UCEC-US 9 33927931 33927931 single base substitution C T exon_variant UCEC-US 9 33927931 33927931 single base substitution C T missense_variant R670Q 2009G>A UCEC-US 9 33927931 33927931 single base substitution C T synonymous_variant A478A 1434G>A UCEC-US 9 33927931 33927931 single base substitution C T synonymous_variant A500A 1500G>A UCEC-US 9 33927931 33927931 single base substitution C T synonymous_variant A745A 2235G>A UCEC-US 9 33943429 33943429 single base substitution C T downstream_gene_variant UCEC-US 9 33943429 33943429 single base substitution C T synonymous_variant S201S 603G>A UCEC-US 9 33943429 33943429 single base substitution C T synonymous_variant S301S 903G>A UCEC-US 9 33943429 33943429 single base substitution C T synonymous_variant S323S 969G>A UCEC-US 9 33943429 33943429 single base substitution C T synonymous_variant S515S 1545G>A UCEC-US 9 33943429 33943429 single base substitution C T synonymous_variant S568S 1704G>A UCEC-US 9 33943429 33943429 single base substitution C T upstream_gene_variant UCEC-US 9 33943450 33943450 single base substitution C A downstream_gene_variant UCEC-US 9 33943450 33943450 single base substitution C A missense_variant Q194H 582G>T UCEC-US 9 33943450 33943450 single base substitution C A missense_variant Q294H 882G>T UCEC-US 9 33943450 33943450 single base substitution C A missense_variant Q316H 948G>T UCEC-US 9 33943450 33943450 single base substitution C A missense_variant Q508H 1524G>T UCEC-US 9 33943450 33943450 single base substitution C A missense_variant Q561H 1683G>T UCEC-US 9 33943450 33943450 single base substitution C A upstream_gene_variant UCEC-US 9 33943461 33943461 single base substitution T G downstream_gene_variant UCEC-US 9 33943461 33943461 single base substitution T G missense_variant N191H 571A>C UCEC-US 9 33943461 33943461 single base substitution T G missense_variant N291H 871A>C UCEC-US 9 33943461 33943461 single base substitution T G missense_variant N313H 937A>C UCEC-US 9 33943461 33943461 single base substitution T G missense_variant N505H 1513A>C UCEC-US 9 33943461 33943461 single base substitution T G missense_variant N558H 1672A>C UCEC-US 9 33943461 33943461 single base substitution T G upstream_gene_variant UCEC-US 9 33944512 33944512 single base substitution G A downstream_gene_variant UCEC-US 9 33944512 33944512 single base substitution G A stop_gained R199* 595C>T UCEC-US 9 33944512 33944512 single base substitution G A stop_gained R221* 661C>T UCEC-US 9 33944512 33944512 single base substitution G A stop_gained R413* 1237C>T UCEC-US 9 33944512 33944512 single base substitution G A stop_gained R466* 1396C>T UCEC-US 9 33944512 33944512 single base substitution G A stop_gained R99* 295C>T UCEC-US 9 33944512 33944512 single base substitution G A upstream_gene_variant UCEC-US 9 33989034 33989034 single base substitution C A 5_prime_UTR_variant UCEC-US 9 33989034 33989034 single base substitution C A intron_variant UCEC-US 9 33989034 33989034 single base substitution C A stop_gained E127* 379G>T UCEC-US 9 33989034 33989034 single base substitution C A stop_gained E3* 7G>T UCEC-US 9 33989068 33989068 single base substitution T C 5_prime_UTR_variant UCEC-US 9 33989068 33989068 single base substitution T C intron_variant UCEC-US 9 33989068 33989068 single base substitution T C synonymous_variant E115E 345A>G UCEC-US 9 33989068 33989068 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A194-01 COSM3656985 c.323A>T p.N108I Substitution - Missense 9:33989092-33989092 - T3306 COSM4738623 c.466G>T p.D156Y Substitution - Missense 9:33986814-33986814 - TCGA-BK-A0C9-01 COSM1108390 c.2501G>A p.R834Q Substitution - Missense 9:33926627-33926627 - CHEWS001 COSM4588781 c.1488C>T p.H496H Substitution - coding silent 9:33944422-33944422 - T3090 COSM4738614 c.2638G>A p.A880T Substitution - Missense 9:33923953-33923953 - TCGA-AP-A056-01 COSM1108400 c.345A>G p.E115E Substitution - coding silent 9:33989070-33989070 - TCGA-AN-A0AK-01 COSM3848370 c.2640T>G p.A880A Substitution - coding silent 9:33923951-33923951 - 250LT COSM150593 c.1817A>G p.N606S Substitution - Missense 9:33941761-33941761 - 61 COSM5738573 c.554G>T p.R185M Substitution - Missense 9:33973204-33973204 - TCGA-EB-A5SE-01 COSM3656981 c.2849C>T p.P950L Substitution - Missense 9:33923426-33923426 - CLL159 COSM1292846 c.601G>T p.D201Y Substitution - Missense 9:33971729-33971729 - CHC2115T COSM4793346 c.521-1G>A p.? Unknown 9:33973238-33973238 - pfg105T COSM4752515 c.511C>T p.R171W Substitution - Missense 9:33986769-33986769 - T2269 COSM4738618 c.2015C>T p.S672F Substitution - Missense 9:33933583-33933583 - PDA_074 COSM150593 c.1817A>G p.N606S Substitution - Missense 9:33941761-33941761 - T3116 COSM4738621 c.888C>G p.L296L Substitution - coding silent 9:33953453-33953453 - TCGA-D1-A0ZO-01 COSM1108389 c.2756C>T p.T919I Substitution - Missense 9:33923835-33923835 - 1022 COSM5730678 c.1600G>T p.V534L Substitution - Missense 9:33943535-33943535 - TCGA-BS-A0UF-01 COSM1108397 c.1396C>T p.R466* Substitution - Nonsense 9:33944514-33944514 - TCGA-G4-6309-01 COSM1462100 c.1948C>T p.R650* Substitution - Nonsense 9:33935860-33935860 - B105-0 COSM1756139 c.2728T>C p.Y910H Substitution - Missense 9:33923863-33923863 - SNU-175 COSM2772914 c.2542A>G p.T848A Substitution - Missense 9:33924254-33924254 - SWE-34 COSM1179699 c.41G>A p.R14Q Substitution - Missense 9:34017108-34017108 - KM12 COSM1674459 c.2917G>A p.G973R Substitution - Missense 9:33923273-33923273 - TCGA-06-0211-02 COSM3413618 c.2759G>A p.G920D Substitution - Missense 9:33923832-33923832 - Pat_37_B COSM5876147 c.2692C>A p.Q898K Substitution - Missense 9:33923899-33923899 - T28 COSM150593 c.1817A>G p.N606S Substitution - Missense 9:33941761-33941761 - TCGA-BP-4329-01 COSM3367693 c.468T>A p.D156E Substitution - Missense 9:33986812-33986812 - 8016486 COSM1159300 c.2897-4_2899delCTAGGTT p.? Unknown 9:33923291-33923297 - TCGA-Q1-A5R2-01 COSM4850421 c.3341C>T p.S1114F Substitution - Missense 9:33922523-33922523 - TCGA-D8-A1JF-01 COSM1489955 c.2748_2749insCCC p.P916_Y917insP Insertion - In frame 9:33923842-33923843 - TCGA-24-1104-01 COSM76927 c.466G>C p.D156H Substitution - Missense 9:33986814-33986814 - TCGA-BT-A3PH-01 COSM1314777 c.2324C>T p.A775V Substitution - Missense 9:33927844-33927844 - U343 COSM5712500 c.2403G>C p.V801V Substitution - coding silent 9:33927049-33927049 - TCGA-AC-A23H-01 COSM3848373 c.1782C>T p.V594V Substitution - coding silent 9:33941796-33941796 - TCGA-CM-4752-01 COSM1462103 c.1200T>C p.S400S Substitution - coding silent 9:33948444-33948444 - HCC2998 COSM2772962 c.321G>T p.K107N Substitution - Missense 9:33989094-33989094 - TCGA-AX-A0J1-01 COSM1108385 c.3105G>A p.T1035T Substitution - coding silent 9:33922846-33922846 - B78-Tumor COSM1756140 c.1739C>G p.S580* Substitution - Nonsense 9:33941839-33941839 - TCGA-BR-6452-01 COSM3906968 c.531T>C p.R177R Substitution - coding silent 9:33973227-33973227 - TCGA-DK-A2I4-01 COSM3779966 c.1253C>A p.S418* Substitution - Nonsense 9:33948391-33948391 - CHEWS004 COSM4588780 c.2945G>T p.G982V Substitution - Missense 9:33923245-33923245 - TCGA-EK-A2R7-01 COSM4852226 c.3192C>G p.F1064L Substitution - Missense 9:33922759-33922759 - TCGA-GC-A3OO-01 COSM3779968 c.139G>C p.D47H Substitution - Missense 9:33998825-33998825 - PD13418a COSM5776855 c.2637C>T p.P879P Substitution - coding silent 9:33923954-33923954 - CHC205T COSM1179699 c.41G>A p.R14Q Substitution - Missense 9:34017108-34017108 - TCGA-13-2061-01 COSM1331572 c.119G>C p.R40P Substitution - Missense 9:33998845-33998845 - ICGC_0054 COSM1159300 c.2897-4_2899delCTAGGTT p.? Unknown 9:33923291-33923297 - EWS502 COSM4588783 c.1219T>A p.S407T Substitution - Missense 9:33948425-33948425 - S01522 COSM4387377 c.2879A>C p.Q960P Substitution - Missense 9:33923396-33923396 - SNUH_G76_S1 COSM4417348 c.3083A>G p.K1028R Substitution - Missense 9:33922868-33922868 - I2L-P19Ta-Tumor-Organoid COSM5367753 c.1644_1645insCT p.E549fs*24 Insertion - Frameshift 9:33943490-33943491 - TCGA-AD-6964-01 COSM1462102 c.1455C>T p.S485S Substitution - coding silent 9:33944455-33944455 - HCC89T COSM1624917 c.773G>T p.W258L Substitution - Missense 9:33960851-33960851 - TCGA-AG-A02X-01 COSM290713 c.423C>T p.G141G Substitution - coding silent 9:33988992-33988992 - 66 COSM1179699 c.41G>A p.R14Q Substitution - Missense 9:34017108-34017108 - 587376 COSM1231527 c.1725G>T p.L575F Substitution - Missense 9:33941853-33941853 - TCGA-13-0920-01 COSM76926 c.1030G>A p.V344I Substitution - Missense 9:33953311-33953311 - TCGA-F5-6812-01 COSM1569285 c.2315G>A p.G772E Substitution - Missense 9:33927853-33927853 - BD79T COSM5520549 c.3049G>C p.G1017R Substitution - Missense 9:33922989-33922989 - P162 COSM1737816 c.362A>G p.E121G Substitution - Missense 9:33989053-33989053 - T2225 COSM4738619 c.1779C>T p.S593S Substitution - coding silent 9:33941799-33941799 - TCGA-BS-A0UF-01 COSM1108399 c.379G>T p.E127* Substitution - Nonsense 9:33989036-33989036 - SW48 COSM2772954 c.769G>A p.E257K Substitution - Missense 9:33960855-33960855 - TCGA-EE-A3AB-06 COSM3656984 c.637G>A p.V213I Substitution - Missense 9:33971693-33971693 - 02-30519 COSM220624 c.1463T>C p.I488T Substitution - Missense 9:33944447-33944447 - TCGA-85-6561-01 COSM608697 c.1149G>T p.P383P Substitution - coding silent 9:33948495-33948495 - TCGA-B5-A11N-01 COSM1108394 c.1704G>A p.S568S Substitution - coding silent 9:33943431-33943431 - SNU-175 COSM2772917 c.2431G>A p.V811I Substitution - Missense 9:33927021-33927021 - CHC1629T COSM4791780 c.1840T>A p.S614T Substitution - Missense 9:33941738-33941738 - TCGA-BS-A0UF-01 COSM1108392 c.2275T>C p.S759P Substitution - Missense 9:33927893-33927893 - TCGA-63-5128-01 COSM753594 c.2277C>G p.S759S Substitution - coding silent 9:33927891-33927891 - CHC1629T COSM4791780 c.1840T>A p.S614T Substitution - Missense 9:33941738-33941738 - TCGA-BR-4201-01 COSM1462097 c.2355G>A p.A785A Substitution - coding silent 9:33927813-33927813 - TCGA-04-1338-01 COSM78738 c.2231C>G p.A744G Substitution - Missense 9:33927937-33927937 - CLL102 COSM1292845 c.3140C>T p.S1047F Substitution - Missense 9:33922811-33922811 - YUKAT COSM5411010 c.408C>T p.N136N Substitution - coding silent 9:33989007-33989007 - RK085_C01 COSM3703543 c.1131G>T p.L377F Substitution - Missense 9:33948513-33948513 - FL-PatientA COSM220468 c.2650G>A p.A884T Substitution - Missense 9:33923941-33923941 - TCGA-FP-A4BE-01 COSM3906969 c.424G>A p.G142S Substitution - Missense 9:33988991-33988991 - TCGA-AP-A056-01 COSM1108396 c.1672A>C p.N558H Substitution - Missense 9:33943463-33943463 - TCGA-AA-A00N-01 COSM277981 c.1977G>T p.K659N Substitution - Missense 9:33933621-33933621 - TCGA-CA-6717-01 COSM1462096 c.2937C>T p.Y979Y Substitution - coding silent 9:33923253-33923253 - 2492730 COSM5728437 c.2314G>A p.G772R Substitution - Missense 9:33927854-33927854 - TCGA-AP-A059-01 COSM1108395 c.1683G>T p.Q561H Substitution - Missense 9:33943452-33943452 - TCGA-AC-A23H-01 COSM3848377 c.558C>G p.F186L Substitution - Missense 9:33973200-33973200 - 2492730 COSM5728438 c.215T>C p.I72T Substitution - Missense 9:33996296-33996296 - I2L-P19Ta-Tumor-Biopsy COSM5367753 c.1644_1645insCT p.E549fs*24 Insertion - Frameshift 9:33943490-33943491 - TCGA-AZ-4315-01 COSM1462105 c.506G>A p.R169Q Substitution - Missense 9:33986774-33986774 - ESO-2472 COSM1269610 c.2439C>T p.P813P Substitution - coding silent 9:33927013-33927013 - TCGA-GC-A3RB-01 COSM1314780 c.40C>T p.R14W Substitution - Missense 9:34017109-34017109 - CSCC-16-T COSM4516720 c.2229_2230GG>AA p.A744T Substitution - Missense 9:33927938-33927939 - TCGA-ER-A19N-06 COSM3656983 c.765G>A p.V255V Substitution - coding silent 9:33960859-33960859 - RK019_C COSM1636167 c.442+3A>T p.? Unknown 9:33988970-33988970 - T3152 COSM4738616 c.2323G>A p.A775T Substitution - Missense 9:33927845-33927845 - TCGA-C8-A12P-01 COSM455859 c.1489C>T p.Q497* Substitution - Nonsense 9:33944421-33944421 - TCGA-AC-A23H-01 COSM3848378 c.341C>G p.S114* Substitution - Nonsense 9:33989074-33989074 - 35M COSM5582976 c.1885C>T p.Q629* Substitution - Nonsense 9:33941693-33941693 - TCGA-EK-A3GK-01 COSM4853451 c.202C>G p.Q68E Substitution - Missense 9:33996309-33996309 - PD24318a COSM5768312 c.1677T>C p.S559S Substitution - coding silent 9:33943458-33943458 - TCGA-G4-6586-01 COSM5831051 c.1271-3delT p.? Unknown 9:33944642-33944642 - TCGA-EI-6917-01 COSM3750172 c.1949G>A p.R650Q Substitution - Missense 9:33935859-33935859 - 19 COSM5746975 c.3169C>A p.P1057T Substitution - Missense 9:33922782-33922782 - TCGA-AP-A0LM-01 COSM1108393 c.2235G>A p.A745A Substitution - coding silent 9:33927933-33927933 - sysucc-1397T COSM5475284 c.2051C>A p.P684Q Substitution - Missense 9:33933547-33933547 - TCGA-A8-A0A6-01 COSM3848375 c.1202A>C p.H401P Substitution - Missense 9:33948442-33948442 - GC8_T COSM150593 c.1817A>G p.N606S Substitution - Missense 9:33941761-33941761 - TCGA-BR-8680-01 COSM3906967 c.936A>C p.E312D Substitution - Missense 9:33953405-33953405 - T3724 COSM290713 c.423C>T p.G141G Substitution - coding silent 9:33988992-33988992 - sysucc-1317T COSM5450578 c.2884G>A p.G962S Substitution - Missense 9:33923391-33923391 - 67 COSM5744166 c.94G>A p.V32I Substitution - Missense 9:34017055-34017055 - T3202 COSM1108385 c.3105G>A p.T1035T Substitution - coding silent 9:33922846-33922846 - TCGA-B0-4824-01 COSM3367694 c.465T>G p.I155M Substitution - Missense 9:33986815-33986815 - 0127_CRUK_PC_0127_T1_DNA COSM5422056 c.2814C>T p.A938A Substitution - coding silent 9:33923461-33923461 - TCGA-CG-5721-01 COSM3906965 c.1065C>T p.V355V Substitution - coding silent 9:33948579-33948579 - MO_1339 COSM5556817 c.3201C>T p.I1067I Substitution - coding silent 9:33922750-33922750 - CHC2115T COSM4793346 c.521-1G>A p.? Unknown 9:33973238-33973238 - TCGA-AM-5820-01 COSM1179699 c.41G>A p.R14Q Substitution - Missense 9:34017108-34017108 - TCGA-G9-6369-01 COSM3675324 c.392G>A p.G131E Substitution - Missense 9:33989023-33989023 - TCGA-Q1-A73O-01 COSM4836351 c.975C>T p.F325F Substitution - coding silent 9:33953366-33953366 - TCGA-CD-5801-01 COSM3906961 c.1687C>T p.P563S Substitution - Missense 9:33943448-33943448 - sysucc-882T COSM5447848 c.2963C>T p.S988L Substitution - Missense 9:33923227-33923227 - T2931 COSM4738615 c.2394T>G p.P798P Substitution - coding silent 9:33927058-33927058 - TCGA-AG-A002-01 COSM264512 c.3280C>T p.R1094C Substitution - Missense 9:33922584-33922584 - LS411 COSM2772942 c.983C>T p.S328L Substitution - Missense 9:33953358-33953358 - JVM-2 COSM1739555 c.2557C>G p.R853G Substitution - Missense 9:33924239-33924239 - Pat_24_B COSM5876146 c.3192C>A p.F1064L Substitution - Missense 9:33922759-33922759 - TCGA-AY-6197-01 COSM1462106 c.99+2T>C p.? Unknown 9:34017048-34017048 - C0069T COSM4138937 c.2738C>G p.T913S Substitution - Missense 9:33923853-33923853 - TCGA-B5-A11E-01 COSM1108384 c.3279G>A p.Q1093Q Substitution - coding silent 9:33922585-33922585 - TCGA-HU-8602-01 COSM3906970 c.207T>C p.D69D Substitution - coding silent 9:33996304-33996304 - T3255 COSM4738617 c.2165C>T p.T722M Substitution - Missense 9:33932572-33932572 - SW48 COSM2772918 c.2401delG p.V801fs*11 Deletion - Frameshift 9:33927051-33927051 - TCGA-AS-3778-01 COSM487388 c.384G>T p.S128S Substitution - coding silent 9:33989031-33989031 - A5 COSM5351591 c.544G>A p.G182R Substitution - Missense 9:33973214-33973214 - I2L-P10-Tumor-Organoid COSM5359166 c.2295G>A p.A765A Substitution - coding silent 9:33927873-33927873 - HCC64T COSM1624916 c.1270+7A>G p.? Unknown 9:33948367-33948367 - DLD1 COSM4626433 c.1512A>T p.K504N Substitution - Missense 9:33944398-33944398 - TCGA-HC-A632-01 COSM4392872 c.2764C>T p.P922S Substitution - Missense 9:33923827-33923827 - 2293782 COSM4609456 c.2624C>A p.A875E Substitution - Missense 9:33923967-33923967 - NPC1F COSM4997060 c.3117C>G p.F1039L Substitution - Missense 9:33922834-33922834 - LUAD-S01357 COSM387968 c.2710C>T p.P904S Substitution - Missense 9:33923881-33923881 - TCGA-CG-4469-01 COSM3906959 c.3163G>C p.A1055P Substitution - Missense 9:33922788-33922788 - TCGA-A8-A07R-01 COSM5835735 c.3291delC p.S1098fs*>22 Deletion - Frameshift 9:33922573-33922573 - TCGA-EY-A1GS-01 COSM1108388 c.2835C>G p.L945L Substitution - coding silent 9:33923440-33923440 - PT46 COSM5929158 c.487C>T p.P163S Substitution - Missense 9:33986793-33986793 - B105-0-Tumor COSM1756139 c.2728T>C p.Y910H Substitution - Missense 9:33923863-33923863 - B9-Tumor COSM4007169 c.341C>T p.S114L Substitution - Missense 9:33989074-33989074 - TCGA-AM-5821-01 COSM3699664 c.3021A>T p.S1007S Substitution - coding silent 9:33923017-33923017 - TCGA-BG-A0M0-01 COSM1108386 c.3102G>A p.G1034G Substitution - coding silent 9:33922849-33922849 - DLD1 COSM4626432 c.3057C>A p.V1019V Substitution - coding silent 9:33922981-33922981 - ccRCC-29 COSM1664851 c.124G>T p.A42S Substitution - Missense 9:33998840-33998840 - S02354 COSM5695693 c.2740G>A p.G914S Substitution - Missense 9:33923851-33923851 - 587332 COSM1231526 c.2053T>C p.S685P Substitution - Missense 9:33933545-33933545 - PCSI_0083_Pa_P_526 COSM3782236 c.2354C>T p.A785V Substitution - Missense 9:33927814-33927814 - TCGA-GC-A3RB-01 COSM1314779 c.1692C>T p.I564I Substitution - coding silent 9:33943443-33943443 - B78 COSM1756140 c.1739C>G p.S580* Substitution - Nonsense 9:33941839-33941839 - TCGA-BF-A1PZ-01 COSM4399230 c.3264+1G>A p.? Unknown 9:33922686-33922686 - 7996 COSM3656982 c.2769T>A p.S923R Substitution - Missense 9:33923822-33923822 - sysucc-311T COSM5467688 c.2371+5T>G p.? Unknown 9:33927792-33927792 - 381_T COSM3952667 c.2041G>A p.A681T Substitution - Missense 9:33933557-33933557 - TCGA-A7-A0DA-01 COSM455858 c.1969+10G>A p.? Unknown 9:33935829-33935829 - BD141T COSM5516952 c.1271-8_1271-7insAT p.? Unknown 9:33944646-33944647 - TCGA-B5-A1MY-01 COSM1108387 c.3022delA p.S1008fs*8 Deletion - Frameshift 9:33923016-33923016 - TCGA-AP-A051-01 COSM1108391 c.2449C>T p.L817F Substitution - Missense 9:33927003-33927003 - T3603 COSM4738622 c.602A>G p.D201G Substitution - Missense 9:33971728-33971728 - T26 COSM150593 c.1817A>G p.N606S Substitution - Missense 9:33941761-33941761 - HCC64 COSM1624916 c.1270+7A>G p.? Unknown 9:33948367-33948367 - TCGA-CJ-4886-01 COSM3367695 c.321G>A p.K107K Substitution - coding silent 9:33989094-33989094 - TCGA-UB-A7MB-01 COSM4930834 c.867-2A>G p.? Unknown 9:33953476-33953476 - RK019_C01 COSM1636167 c.442+3A>T p.? Unknown 9:33988970-33988970 - CSCC-62-T COSM4447415 c.1969+3A>T p.? Unknown 9:33935836-33935836 - TCGA-CZ-5459-01 COSM487387 c.1867C>A p.H623N Substitution - Missense 9:33941711-33941711 - TCGA-CM-6674-01 COSM1462097 c.2355G>A p.A785A Substitution - coding silent 9:33927813-33927813 - KM12 COSM1674459 c.2917G>A p.G973R Substitution - Missense 9:33923273-33923273 - LUAD-S01315 COSM392464 c.2384delC p.P795fs*17 Deletion - Frameshift 9:33927068-33927068 - ESO-859 COSM1240595 c.2893A>G p.T965A Substitution - Missense 9:33923382-33923382 - AOCS-128-1-0 COSM4152255 c.2587C>G p.P863A Substitution - Missense 9:33924209-33924209 - YUGOE COSM1701053 c.383C>T p.S128L Substitution - Missense 9:33989032-33989032 - 2521260 COSM5891424 c.508G>C p.A170P Substitution - Missense 9:33986772-33986772 - TCGA-A2-A0T5-01 COSM3848371 c.2592T>G p.G864G Substitution - coding silent 9:33923999-33923999 - TCGA-ES-A2HS-01 COSM4910382 c.192A>G p.T64T Substitution - coding silent 9:33996319-33996319 - LIM2551 COSM4644927 c.2019G>A p.L673L Substitution - coding silent 9:33933579-33933579 - TCGA-BR-8589-01 COSM3906966 c.968T>C p.L323P Substitution - Missense 9:33953373-33953373 - CCK81 COSM2772908 c.2806G>A p.A936T Substitution - Missense 9:33923469-33923469 - T6 COSM5345780 c.2944G>C p.G982R Substitution - Missense 9:33923246-33923246 - TCGA-BR-8363-01 COSM3906960 c.2242G>A p.V748I Substitution - Missense 9:33927926-33927926 - Pat_24_A COSM5876146 c.3192C>A p.F1064L Substitution - Missense 9:33922759-33922759 - HCC068T COSM5824158 c.1019G>T p.S340I Substitution - Missense 9:33953322-33953322 - OSCC-GB_01230111 COSM5955390 c.2463G>A p.P821P Substitution - coding silent 9:33926989-33926989 - TCGA-FW-A3R5-06 COSM3926718 c.1373C>T p.S458F Substitution - Missense 9:33944537-33944537 - HCC89 COSM1624917 c.773G>T p.W258L Substitution - Missense 9:33960851-33960851 - TCGA-DK-A3IK-01 COSM1314778 c.1837A>G p.M613V Substitution - Missense 9:33941741-33941741 - TCGA-EE-A3AB-06 COSM3656982 c.2769T>A p.S923R Substitution - Missense 9:33923822-33923822 - TCGA-BS-A0UM-01 COSM1108398 c.394C>T p.R132C Substitution - Missense 9:33989021-33989021 - SW1222 COSM4654990 c.3187C>T p.P1063S Substitution - Missense 9:33922764-33922764 - TCGA-BR-4361-01 COSM3906963 c.1155G>T p.L385F Substitution - Missense 9:33948489-33948489 - LUAD-S01315 COSM346124 c.715C>A p.L239M Substitution - Missense 9:33963756-33963756 - I2L-P20-Tumor-Biopsy COSM5359416 c.2904C>T p.D968D Substitution - coding silent 9:33923286-33923286 - TCGA-AM-5821-01 COSM150593 c.1817A>G p.N606S Substitution - Missense 9:33941761-33941761 - Pat_41_B COSM5876145 c.3325C>T p.P1109S Substitution - Missense 9:33922539-33922539 - TCGA-18-3414-01 COSM753595 c.2851C>A p.P951T Substitution - Missense 9:33923424-33923424 - TCGA-DM-A1D8-01 COSM1462101 c.1539T>A p.A513A Substitution - coding silent 9:33944371-33944371 - TCGA-FW-A3R5-06 COSM2772953 c.819C>T p.F273F Substitution - coding silent 9:33956126-33956126 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.493739 9p13.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.680-2351T>G 9 33966140 CLL A C Missense p.I155M c.465T>G 9 33986813 RCCC A G IntronicSNV . c.1969+61T>C 9 33935776 OV A T Missense p.D156E c.468T>A 9 33986810 RCCC A T Missense p.S923R c.2769T>A 9 33923820 CM A T Missense p.S923R c.2769T>A 9 33923820 NSCLC C A IntronicSNV . c.100-1070G>T 9 33999932 CLL C A Missense p.D201Y c.601G>T 9 33971727 CLL C A Missense p.D424Y c.1270G>T 9 33948372 LUAD C A Synonymous p.P383P c.1149G>T 9 33948493 LUSC CG AT Missense p.R171M c.511_512delinsAT 9 33986766 CM C G Missense p.A1055P c.3163G>C 9 33922786 STAD C G Missense p.D156H c.466G>C 9 33986812 OV CTAT - IntronicDeletion . c.177+947_177+950delAGAT 9 33997837 CLL C T IntronicSNV . c.1969+10G>A 9 33935827 BRCA C T Missense p.D47N c.139G>A 9 33998823 LUAD C T Missense p.G131E c.392G>A 9 33989021 PRAD C T Missense p.G920D c.2759G>A 9 33923830 GBM C T Missense p.V213I c.637G>A 9 33971691 CM C T Missense p.V344I c.1030G>A 9 33953309 OV C T SpliceDonorSNV . c.3264+1G>A 9 33922684 CM C T Synonymous p.G1034G c.3102G>A 9 33922847 UCEC C T Synonymous p.K107K c.321G>A 9 33989092 RCCC C T Synonymous p.V255V c.765G>A 9 33960857 CM G A IntronicSNV . c.1970-436C>T 9 33934062 MB G A Missense p.A775V c.2324C>T 9 33927842 BLCA G A Missense p.A880V c.2639C>T 9 33923950 CM G A Missense p.P563L c.1688C>T 9 33943445 CM G A Missense p.P922S c.2764C>T 9 33923825 PRAD G A Missense p.R14W c.40C>T 9 34017107 BLCA G A Missense p.R166C c.496C>T 9 33986782 CM G A Missense p.S1047F c.3140C>T 9 33922809 CLL G A Missense p.S734F c.2201C>T 9 33927965 CM G A Missense p.T764I c.2291C>T 9 33927875 HNSC G A Nonsense p.Q497* c.1489C>T 9 33944419 BRCA G A Synonymous p.G141G c.423C>T 9 33988990 COREAD G A Synonymous p.I564I c.1692C>T 9 33943441 BLCA G C Missense p.A744G c.2231C>G 9 33927935 OV G C Missense p.L239V c.715C>G 9 33963754 LUAD G C Missense p.L698V c.2092C>G 9 33933504 CM G C Missense p.S713C c.2138C>G 9 33932597 HNSC G C Synonymous p.L945L c.2835C>G 9 33923438 UCEC G C Synonymous p.S759S c.2277C>G 9 33927889 LUSC GG AA Missense p.P934F c.2800_2801delinsTT 9 33923472 CM - GGG InFrameInsertion p.P916dupP c.2746_2748dupCCC 9 33923841 BRCA - G IntronicInsertion . c.2797-3dupC 9 33923479 HNSC G T Missense p.H623N c.1867C>A 9 33941709 RCCC G T Missense p.P554T c.1660C>A 9 33943473 HNSC G T Missense p.P951T c.2851C>A 9 33923422 LUSC G T Missense p.S759Y c.2276C>A 9 33927890 CM G T Nonsense p.S418* c.1253C>A 9 33948389 BLCA G T Synonymous p.R171R c.511C>A 9 33986767 LUAD T A IntronicSNV . c.177+376A>T 9 33998409 HC T A Missense p.N108I c.323A>T 9 33989090 CM T A Missense p.T577S c.1729A>T 9 33941847 MM T C Missense p.M613V c.1837A>G 9 33941739 BLCA T C Missense p.N763S c.2288A>G 9 33927878 LUAD T C Missense p.T965A c.2893A>G 9 33923380 ESCA T - Frameshift p.S1008Afs*8 c.3022delA 9 33923014 UCEC T G Missense p.E265D c.795A>C 9 33960827 BRCA T G Missense p.K792N c.2376A>C 9 33927074 CM