Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 167906233 167906233 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr1:167906233G>A c.84G>A c.(82-84)cgG>cgA p.R28R BLCA 1 167921068 167921068 + Missense_Mutation SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr1:167921068T>G c.128T>G c.(127-129)cTt>cGt p.L43R BLCA 1 167960533 167960533 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:167960533C>T c.644C>T c.(643-645)tCa>tTa p.S215L BLCA 1 167962475 167962475 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr1:167962475G>A c.700G>A c.(700-702)Ggt>Agt p.G234S BLCA 1 167973115 167973115 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr1:167973115G>C c.1005G>C c.(1003-1005)caG>caC p.Q335H BLCA 1 167992243 167992243 + Intron SNP G G C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr1:167992243G>C BLCA 1 168007717 168007717 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr1:168007717C>T c.1487C>T c.(1486-1488)aCa>aTa p.T496I BLCA 1 168014277 168014277 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr1:168014277G>A c.1839G>A c.(1837-1839)caG>caA p.Q613Q BLCA 1 168034939 168034939 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr1:168034939G>C c.2278G>C c.(2278-2280)Gat>Cat p.D760H BLCA 1 168035698 168035698 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr1:168035698G>C c.2407G>C c.(2407-2409)Gat>Cat p.D803H BLCA 1 168044653 168044653 + Missense_Mutation SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr1:168044653G>A c.2563G>A c.(2563-2565)Gaa>Aaa p.E855K BRCA 1 167935897 167935897 + Missense_Mutation SNP G G A TCGA-D8-A1JH-01A-11D-A188-09 TCGA-D8-A1JH-10A-01D-A13O-09 g.chr1:167935897G>A c.190G>A c.(190-192)Gaa>Aaa p.E64K BRCA 1 167960473 167960473 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr1:167960473C>T c.584C>T c.(583-585)aCg>aTg p.T195M BRCA 1 167973842 167973842 + Missense_Mutation SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:167973842A>G c.1189A>G c.(1189-1191)Act>Gct p.T397A BRCA 1 167973911 167973911 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:167973911C>G c.1258C>G c.(1258-1260)Cag>Gag p.Q420E BRCA 1 168032951 168032951 + Missense_Mutation SNP C C T TCGA-E2-A1L6-01A-11D-A13L-09 TCGA-E2-A1L6-10A-01D-A13O-09 g.chr1:168032951C>T c.2120C>T c.(2119-2121)cCg>cTg p.P707L BRCA 1 168034845 168034845 + Silent SNP C C T TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr1:168034845C>T c.2184C>T c.(2182-2184)ttC>ttT p.F728F BRCA 1 168034923 168034923 + Silent SNP G G A TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr1:168034923G>A c.2262G>A c.(2260-2262)ttG>ttA p.L754L BRCA 1 168037611 168037611 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:168037611G>A c.2428G>A c.(2428-2430)Gaa>Aaa p.E810K BRCA 1 168044617 168044617 + Nonsense_Mutation SNP G G T TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chr1:168044617G>T c.2527G>T c.(2527-2529)Gag>Tag p.E843* BRCA 1 168044671 168044671 + Nonstop_Mutation SNP T T A TCGA-AR-A24L-01A-11D-A167-09 TCGA-AR-A24L-10A-01D-A167-09 g.chr1:168044671T>A c.2581T>A c.(2581-2583)Taa>Aaa p.*861K CESC 1 167973897 167973897 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr1:167973897C>T c.1244C>T c.(1243-1245)tCt>tTt p.S415F CESC 1 167973911 167973911 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr1:167973911C>G c.1258C>G c.(1258-1260)Cag>Gag p.Q420E CESC 1 168007719 168007719 + Missense_Mutation SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 g.chr1:168007719G>A c.1489G>A c.(1489-1491)Gat>Aat p.D497N COAD 1 167935897 167935897 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:167935897G>T c.190G>T c.(190-192)Gaa>Taa p.E64* COAD 1 167935952 167935952 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:167935952G>A c.245G>A c.(244-246)aGc>aAc p.S82N COAD 1 167944228 167944228 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:167944228C>T c.413C>T c.(412-414)aCg>aTg p.T138M COAD 1 167960550 167960550 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:167960550C>T c.661C>T c.(661-663)Cgg>Tgg p.R221W COAD 1 167962653 167962655 + In_Frame_Del DEL CTT CTT - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:167962653_167962655delCTT c.878_880delCTT c.(877-882)ccttct>cct p.S294del COAD 1 167973229 167973229 + Splice_Site SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:167973229T>C c.e9+2 COAD 1 168013867 168013867 + Nonsense_Mutation SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:168013867G>T c.1657G>T c.(1657-1659)Gga>Tga p.G553* COAD 1 168014272 168014272 + Missense_Mutation SNP G G C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr1:168014272G>C c.1834G>C c.(1834-1836)Gat>Cat p.D612H COAD 1 168014283 168014283 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:168014283C>A c.1845C>A c.(1843-1845)agC>agA p.S615R COAD 1 168014330 168014330 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:168014330T>C c.1892T>C c.(1891-1893)tTc>tCc p.F631S COAD 1 168014363 168014363 + Missense_Mutation SNP A A C TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr1:168014363A>C c.1925A>C c.(1924-1926)gAa>gCa p.E642A COAD 1 168032995 168032995 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:168032995A>G c.2164A>G c.(2164-2166)Atg>Gtg p.M722V COAD 1 168032997 168032997 + Splice_Site SNP G G A TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr1:168032997G>A c.2166G>A c.(2164-2166)atG>atA p.M722I COAD 1 168032997 168032997 + Splice_Site SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:168032997G>A c.2166G>A c.(2164-2166)atG>atA p.M722I COAD 1 168034884 168034884 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:168034884C>T c.2223C>T c.(2221-2223)ggC>ggT p.G741G COAD 1 168037606 168037606 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:168037606G>A c.2423G>A c.(2422-2424)cGa>cAa p.R808Q COADREAD 1 167935897 167935897 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:167935897G>T c.190G>T c.(190-192)Gaa>Taa p.E64* COADREAD 1 167935952 167935952 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:167935952G>A c.245G>A c.(244-246)aGc>aAc p.S82N COADREAD 1 167944228 167944228 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:167944228C>T c.413C>T c.(412-414)aCg>aTg p.T138M COADREAD 1 167960550 167960550 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:167960550C>T c.661C>T c.(661-663)Cgg>Tgg p.R221W COADREAD 1 167962640 167962640 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:167962640G>T c.865G>T c.(865-867)Gaa>Taa p.E289* COADREAD 1 167962653 167962655 + In_Frame_Del DEL CTT CTT - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:167962653_167962655delCTT c.878_880delCTT c.(877-882)ccttct>cct p.S294del COADREAD 1 167973229 167973229 + Splice_Site SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:167973229T>C c.e9+2 COADREAD 1 168013867 168013867 + Nonsense_Mutation SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:168013867G>T c.1657G>T c.(1657-1659)Gga>Tga p.G553* COADREAD 1 168014272 168014272 + Missense_Mutation SNP G G C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr1:168014272G>C c.1834G>C c.(1834-1836)Gat>Cat p.D612H COADREAD 1 168014283 168014283 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:168014283C>A c.1845C>A c.(1843-1845)agC>agA p.S615R COADREAD 1 168014330 168014330 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:168014330T>C c.1892T>C c.(1891-1893)tTc>tCc p.F631S COADREAD 1 168014363 168014363 + Missense_Mutation SNP A A C TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr1:168014363A>C c.1925A>C c.(1924-1926)gAa>gCa p.E642A COADREAD 1 168032995 168032995 + Missense_Mutation SNP A A G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:168032995A>G c.2164A>G c.(2164-2166)Atg>Gtg p.M722V COADREAD 1 168032995 168032995 + Missense_Mutation SNP A A G TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr1:168032995A>G c.2164A>G c.(2164-2166)Atg>Gtg p.M722V COADREAD 1 168032997 168032997 + Splice_Site SNP G G A TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr1:168032997G>A c.2166G>A c.(2164-2166)atG>atA p.M722I COADREAD 1 168032997 168032997 + Splice_Site SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:168032997G>A c.2166G>A c.(2164-2166)atG>atA p.M722I COADREAD 1 168032997 168032997 + Splice_Site SNP G G A TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr1:168032997G>A c.2166G>A c.(2164-2166)atG>atA p.M722I COADREAD 1 168034884 168034884 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:168034884C>T c.2223C>T c.(2221-2223)ggC>ggT p.G741G COADREAD 1 168034954 168034954 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:168034954A>G c.2293A>G c.(2293-2295)Aac>Gac p.N765D COADREAD 1 168037606 168037606 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:168037606G>A c.2423G>A c.(2422-2424)cGa>cAa p.R808Q COADREAD 1 168037611 168037611 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:168037611G>A c.2428G>A c.(2428-2430)Gaa>Aaa p.E810K DLBC 1 168014147 168014147 + Missense_Mutation SNP A A G TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr1:168014147A>G c.1709A>G c.(1708-1710)gAt>gGt p.D570G ESCA 1 168007624 168007624 + Missense_Mutation SNP A A T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 g.chr1:168007624A>T c.1394A>T c.(1393-1395)aAg>aTg p.K465M ESCA 1 168014359 168014359 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr1:168014359C>T c.1921C>T c.(1921-1923)Cat>Tat p.H641Y ESCA 1 168032896 168032896 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:168032896C>T c.2065C>T c.(2065-2067)Cgg>Tgg p.R689W ESCA 1 168034884 168034884 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:168034884C>T c.2223C>T c.(2221-2223)ggC>ggT p.G741G ESCA 1 168034905 168034905 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:168034905G>A c.2244G>A c.(2242-2244)cgG>cgA p.R748R GBMLGG 1 167956741 167956741 + Silent SNP T T C TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 g.chr1:167956741T>C c.447T>C c.(445-447)acT>acC p.T149T GBMLGG 1 167962634 167962634 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:167962634G>A c.859G>A c.(859-861)Gca>Aca p.A287T HNSC 1 167906205 167906205 + Missense_Mutation SNP T T C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 g.chr1:167906205T>C c.56T>C c.(55-57)cTc>cCc p.L19P HNSC 1 167944229 167944229 + Silent SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 g.chr1:167944229G>A c.414G>A c.(412-414)acG>acA p.T138T HNSC 1 167962616 167962616 + Missense_Mutation SNP G G C TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr1:167962616G>C c.841G>C c.(841-843)Gac>Cac p.D281H HNSC 1 167971802 167971802 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 g.chr1:167971802G>A c.986G>A c.(985-987)cGa>cAa p.R329Q HNSC 1 167973999 167973999 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr1:167973999A>T c.1346A>T c.(1345-1347)gAg>gTg p.E449V HNSC 1 168013891 168013891 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 g.chr1:168013891G>A c.1681G>A c.(1681-1683)Gag>Aag p.E561K HNSC 1 168014240 168014240 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr1:168014240C>T c.1802C>T c.(1801-1803)tCa>tTa p.S601L HNSC 1 168014243 168014243 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr1:168014243C>G c.1805C>G c.(1804-1806)tCt>tGt p.S602C HNSC 1 168014380 168014380 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 g.chr1:168014380G>A c.1942G>A c.(1942-1944)Gac>Aac p.D648N HNSC 1 168037616 168037616 + Silent SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 g.chr1:168037616C>T c.2433C>T c.(2431-2433)ctC>ctT p.L811L KIPAN 1 167974003 167974003 + Silent SNP A A G TCGA-B8-5163-01A-01D-1421-08 TCGA-B8-5163-10A-01D-1421-08 g.chr1:167974003A>G c.1350A>G c.(1348-1350)gcA>gcG p.A450A KIPAN 1 168034953 168034953 + Silent SNP A A T TCGA-A3-3349-01A-01D-1251-10 TCGA-A3-3349-11A-01D-1251-10 g.chr1:168034953A>T c.2292A>T c.(2290-2292)gtA>gtT p.V764V KIRC 1 167974003 167974003 + Silent SNP A A G TCGA-B8-5163-01A-01D-1421-08 TCGA-B8-5163-10A-01D-1421-08 g.chr1:167974003A>G c.1350A>G c.(1348-1350)gcA>gcG p.A450A KIRC 1 168034953 168034953 + Silent SNP A A T TCGA-A3-3349-01A-01D-1251-10 TCGA-A3-3349-11A-01D-1251-10 g.chr1:168034953A>T c.2292A>T c.(2290-2292)gtA>gtT p.V764V LAML 1 167960544 167960544 + Missense_Mutation SNP T T C TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 g.chr1:167960544T>C c.655T>C c.(655-657)Tat>Cat p.Y219H LGG 1 167956741 167956741 + Silent SNP T T C TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 g.chr1:167956741T>C c.447T>C c.(445-447)acT>acC p.T149T LGG 1 167962634 167962634 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:167962634G>A c.859G>A c.(859-861)Gca>Aca p.A287T LIHC 1 167944101 167944101 + Missense_Mutation SNP A A G TCGA-ZP-A9D2-01A-11D-A382-10 TCGA-ZP-A9D2-10B-01D-A385-10 g.chr1:167944101A>G c.286A>G c.(286-288)Aac>Gac p.N96D LIHC 1 167962525 167962525 + Frame_Shift_Del DEL T T - TCGA-HP-A5N0-01A-11D-A28X-10 TCGA-HP-A5N0-10A-01D-A28X-10 g.chr1:167962525delT c.750delT c.(748-750)aatfs p.N251fs LIHC 1 167971753 167971753 + Missense_Mutation SNP C C T TCGA-CC-A9FS-01A-11D-A36X-10 TCGA-CC-A9FS-10A-01D-A370-10 g.chr1:167971753C>T c.937C>T c.(937-939)Cgt>Tgt p.R313C LIHC 1 167971772 167971772 + Missense_Mutation SNP C C T TCGA-EP-A26S-01A-11D-A16V-10 TCGA-EP-A26S-10A-01D-A16V-10 g.chr1:167971772C>T c.956C>T c.(955-957)aCt>aTt p.T319I LIHC 1 168014320 168014320 + Missense_Mutation SNP G G C TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr1:168014320G>C c.1882G>C c.(1882-1884)Gag>Cag p.E628Q LIHC 1 168032858 168032858 + Splice_Site SNP G G C TCGA-2Y-A9GU-01A-11D-A382-10 TCGA-2Y-A9GU-10A-01D-A385-10 g.chr1:168032858G>C c.e15-1 LIHC 1 168034975 168034975 + Missense_Mutation SNP T T C TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr1:168034975T>C c.2314T>C c.(2314-2316)Ttt>Ctt p.F772L LUAD 1 167944145 167944145 + Missense_Mutation SNP G G C TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr1:167944145G>C c.330G>C c.(328-330)caG>caC p.Q110H LUAD 1 167956802 167956802 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr1:167956802G>A c.508G>A c.(508-510)Gat>Aat p.D170N LUAD 1 167960554 167960554 + Missense_Mutation SNP G G A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr1:167960554G>A c.665G>A c.(664-666)cGa>cAa p.R222Q LUAD 1 167962666 167962666 + Missense_Mutation SNP G G T TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr1:167962666G>T c.891G>T c.(889-891)gaG>gaT p.E297D LUAD 1 167973205 167973205 + Silent SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 g.chr1:167973205A>T c.1095A>T c.(1093-1095)ggA>ggT p.G365G LUAD 1 167973797 167973797 + Missense_Mutation SNP A A G TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 g.chr1:167973797A>G c.1144A>G c.(1144-1146)Act>Gct p.T382A LUAD 1 167974027 167974027 + Missense_Mutation SNP G G C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:167974027G>C c.1374G>C c.(1372-1374)caG>caC p.Q458H LUAD 1 168012315 168012315 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:168012315G>T c.1549G>T c.(1549-1551)Ggt>Tgt p.G517C LUAD 1 168014234 168014234 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr1:168014234C>G c.1796C>G c.(1795-1797)tCt>tGt p.S599C LUAD 1 168014281 168014281 + Missense_Mutation SNP A A G TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr1:168014281A>G c.1843A>G c.(1843-1845)Agc>Ggc p.S615G LUAD 1 168014354 168014354 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr1:168014354C>T c.1916C>T c.(1915-1917)tCa>tTa p.S639L LUAD 1 168032861 168032861 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 g.chr1:168032861G>T c.2030G>T c.(2029-2031)cGc>cTc p.R677L LUAD 1 168034950 168034950 + Silent SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr1:168034950G>T c.2289G>T c.(2287-2289)gtG>gtT p.V763V LUAD 1 168034951 168034951 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr1:168034951G>T c.2290G>T c.(2290-2292)Gta>Tta p.V764L LUSC 1 167962587 167962587 + Missense_Mutation SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr1:167962587G>A c.812G>A c.(811-813)aGt>aAt p.S271N LUSC 1 168012380 168012380 + Splice_Site SNP T T A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr1:168012380T>A c.e12+2 LUSC 1 168037687 168037687 + Missense_Mutation SNP A A G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr1:168037687A>G c.2504A>G c.(2503-2505)aAt>aGt p.N835S OV 1 168032995 168032995 + Missense_Mutation SNP A A G TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 g.chr1:168032995A>G c.2164A>G c.(2164-2166)Atg>Gtg p.M722V PAAD 1 167921055 167921055 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr1:167921055C>A c.115C>A c.(115-117)Caa>Aaa p.Q39K PAAD 1 167944232 167944232 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:167944232T>C c.417T>C c.(415-417)tgT>tgC p.C139C PAAD 1 167960489 167960489 + Silent SNP C C T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 g.chr1:167960489C>T c.600C>T c.(598-600)tgC>tgT p.C200C PAAD 1 168034905 168034905 + Silent SNP G G A TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr1:168034905G>A c.2244G>A c.(2242-2244)cgG>cgA p.R748R PRAD 1 167962660 167962660 + Silent SNP G G A TCGA-XJ-A83H-01A-11D-A34U-08 TCGA-XJ-A83H-10A-01D-A34X-08 g.chr1:167962660G>A c.885G>A c.(883-885)gcG>gcA p.A295A PRAD 1 167973820 167973820 + Silent SNP T T C TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 g.chr1:167973820T>C c.1167T>C c.(1165-1167)agT>agC p.S389S READ 1 167962640 167962640 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:167962640G>T c.865G>T c.(865-867)Gaa>Taa p.E289* READ 1 168032995 168032995 + Missense_Mutation SNP A A G TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr1:168032995A>G c.2164A>G c.(2164-2166)Atg>Gtg p.M722V READ 1 168032997 168032997 + Splice_Site SNP G G A TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr1:168032997G>A c.2166G>A c.(2164-2166)atG>atA p.M722I READ 1 168034954 168034954 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:168034954A>G c.2293A>G c.(2293-2295)Aac>Gac p.N765D READ 1 168037611 168037611 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:168037611G>A c.2428G>A c.(2428-2430)Gaa>Aaa p.E810K SKCM 1 167944107 167944107 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr1:167944107T>G c.292T>G c.(292-294)Ttt>Gtt p.F98V SKCM 1 167960470 167960470 + Missense_Mutation SNP C C T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr1:167960470C>T c.581C>T c.(580-582)gCc>gTc p.A194V SKCM 1 167962515 167962515 + Missense_Mutation SNP C C T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr1:167962515C>T c.740C>T c.(739-741)tCc>tTc p.S247F SKCM 1 167962533 167962533 + Missense_Mutation SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr1:167962533C>T c.758C>T c.(757-759)tCc>tTc p.S253F SKCM 1 167962580 167962580 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr1:167962580C>T c.805C>T c.(805-807)Ctc>Ttc p.L269F SKCM 1 167971768 167971768 + Missense_Mutation SNP G G C TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 g.chr1:167971768G>C c.952G>C c.(952-954)Gat>Cat p.D318H SKCM 1 167973186 167973186 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:167973186T>C c.1076T>C c.(1075-1077)gTt>gCt p.V359A SKCM 1 167973951 167973951 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr1:167973951C>T c.1298C>T c.(1297-1299)tCt>tTt p.S433F SKCM 1 167992241 167992241 + Intron SNP T T G TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr1:167992241T>G SKCM 1 168007709 168007709 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr1:168007709G>A c.1479G>A c.(1477-1479)ctG>ctA p.L493L SKCM 1 168012370 168012370 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr1:168012370G>A c.1604G>A c.(1603-1605)aGt>aAt p.S535N SKCM 1 168014196 168014196 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:168014196C>T c.1758C>T c.(1756-1758)gaC>gaT p.D586D SKCM 1 168014329 168014329 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr1:168014329T>C c.1891T>C c.(1891-1893)Ttc>Ctc p.F631L SKCM 1 168014372 168014372 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:168014372C>T c.1934C>T c.(1933-1935)tCc>tTc p.S645F SKCM 1 168014418 168014418 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr1:168014418C>T c.1980C>T c.(1978-1980)gaC>gaT p.D660D SKCM 1 168014467 168014467 + Splice_Site SNP T T C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr1:168014467T>C c.e14+2 SKCM 1 168032874 168032874 + Silent SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr1:168032874C>T c.2043C>T c.(2041-2043)gcC>gcT p.A681A SKCM 1 168044630 168044630 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:168044630C>T c.2540C>T c.(2539-2541)tCa>tTa p.S847L

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 1 167944066 167944066 single base substitution A C splice_acceptor_variant BLCA-US 1 167906233 167906233 single base substitution G A exon_variant BLCA-US 1 167906233 167906233 single base substitution G A intron_variant BLCA-US 1 167906233 167906233 single base substitution G A synonymous_variant R28R 84G>A BLCA-US 1 167906233 167906233 single base substitution G A upstream_gene_variant BLCA-US 1 167921068 167921068 single base substitution T G exon_variant BLCA-US 1 167921068 167921068 single base substitution T G missense_variant L43R 128T>G BLCA-US 1 167962475 167962475 single base substitution G A downstream_gene_variant BLCA-US 1 167962475 167962475 single base substitution G A exon_variant BLCA-US 1 167962475 167962475 single base substitution G A missense_variant G203S 607G>A BLCA-US 1 167962475 167962475 single base substitution G A missense_variant G234S 700G>A BLCA-US 1 167973115 167973115 single base substitution G C exon_variant BLCA-US 1 167973115 167973115 single base substitution G C missense_variant Q304H 912G>C BLCA-US 1 167973115 167973115 single base substitution G C missense_variant Q335H 1005G>C BLCA-US 1 168007717 168007717 single base substitution C T missense_variant T496I 1487C>T BLCA-US 1 168007717 168007717 single base substitution C T missense_variant T516I 1547C>T BLCA-US 1 168007717 168007717 single base substitution C T missense_variant T542I 1625C>T BLCA-US 1 168007717 168007717 single base substitution C T missense_variant T573I 1718C>T BLCA-US 1 168007717 168007717 single base substitution C T upstream_gene_variant BLCA-US 1 168014277 168014277 single base substitution G A exon_variant BLCA-US 1 168014277 168014277 single base substitution G A synonymous_variant Q613Q 1839G>A BLCA-US 1 168014277 168014277 single base substitution G A synonymous_variant Q633Q 1899G>A BLCA-US 1 168014277 168014277 single base substitution G A synonymous_variant Q659Q 1977G>A BLCA-US 1 168014277 168014277 single base substitution G A synonymous_variant Q690Q 2070G>A BLCA-US 1 168014277 168014277 single base substitution G A upstream_gene_variant BLCA-US 1 168034939 168034939 single base substitution G C downstream_gene_variant BLCA-US 1 168034939 168034939 single base substitution G C exon_variant BLCA-US 1 168034939 168034939 single base substitution G C missense_variant D760H 2278G>C BLCA-US 1 168034939 168034939 single base substitution G C missense_variant D780H 2338G>C BLCA-US 1 168034939 168034939 single base substitution G C missense_variant D820H 2458G>C BLCA-US 1 168034939 168034939 single base substitution G C missense_variant D851H 2551G>C BLCA-US 1 168035698 168035698 single base substitution G C downstream_gene_variant BLCA-US 1 168035698 168035698 single base substitution G C exon_variant BLCA-US 1 168035698 168035698 single base substitution G C missense_variant D803H 2407G>C BLCA-US 1 168035698 168035698 single base substitution G C missense_variant D823H 2467G>C BLCA-US 1 168035698 168035698 single base substitution G C missense_variant D863H 2587G>C BLCA-US 1 168035698 168035698 single base substitution G C missense_variant D894H 2680G>C BOCA-FR 1 167919930 167919930 single base substitution C T intron_variant BRCA-EU 1 167901543 167901543 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 167901631 167901631 single base substitution T C upstream_gene_variant BRCA-EU 1 167902327 167902327 single base substitution G A upstream_gene_variant BRCA-EU 1 167903115 167903115 single base substitution G C upstream_gene_variant BRCA-EU 1 167904637 167904637 single base substitution A C upstream_gene_variant BRCA-EU 1 167905902 167905902 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 167905902 167905902 single base substitution G C intron_variant BRCA-EU 1 167905902 167905902 single base substitution G C upstream_gene_variant BRCA-EU 1 167905937 167905937 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 167905937 167905937 single base substitution C G intron_variant BRCA-EU 1 167905937 167905937 single base substitution C G upstream_gene_variant BRCA-EU 1 167908585 167908585 single base substitution C G intron_variant BRCA-EU 1 167909033 167909033 single base substitution A G intron_variant BRCA-EU 1 167909100 167909100 insertion of <=200bp - T intron_variant BRCA-EU 1 167909501 167909501 single base substitution C A intron_variant BRCA-EU 1 167909518 167909518 single base substitution T C intron_variant BRCA-EU 1 167909666 167909666 single base substitution G T intron_variant BRCA-EU 1 167912454 167912454 single base substitution G T intron_variant BRCA-EU 1 167912463 167912463 single base substitution T A intron_variant BRCA-EU 1 167912498 167912498 single base substitution C T intron_variant BRCA-EU 1 167912742 167912742 single base substitution G A intron_variant BRCA-EU 1 167915201 167915201 single base substitution T G intron_variant BRCA-EU 1 167915669 167915669 single base substitution G A intron_variant BRCA-EU 1 167915851 167915851 single base substitution G A intron_variant BRCA-EU 1 167916969 167916969 single base substitution C T intron_variant BRCA-EU 1 167917156 167917156 single base substitution C G intron_variant BRCA-EU 1 167917578 167917578 single base substitution G A intron_variant BRCA-EU 1 167917769 167917769 single base substitution A T intron_variant BRCA-EU 1 167917885 167917885 single base substitution G C intron_variant BRCA-EU 1 167918184 167918184 single base substitution A G intron_variant BRCA-EU 1 167918874 167918874 single base substitution C T intron_variant BRCA-EU 1 167919107 167919107 single base substitution T C intron_variant BRCA-EU 1 167919237 167919237 single base substitution A G intron_variant BRCA-EU 1 167919331 167919331 single base substitution C T intron_variant BRCA-EU 1 167919591 167919591 single base substitution C T intron_variant BRCA-EU 1 167920053 167920053 single base substitution G T intron_variant BRCA-EU 1 167920925 167920925 single base substitution G T intron_variant BRCA-EU 1 167921414 167921414 deletion of <=200bp T - intron_variant BRCA-EU 1 167921427 167921427 deletion of <=200bp T - intron_variant BRCA-EU 1 167922891 167922891 single base substitution T G intron_variant BRCA-EU 1 167923866 167923866 single base substitution A G intron_variant BRCA-EU 1 167924872 167924872 single base substitution G A intron_variant BRCA-EU 1 167924945 167924945 single base substitution T C intron_variant BRCA-EU 1 167925514 167925514 single base substitution G C intron_variant BRCA-EU 1 167925659 167925659 single base substitution C T intron_variant BRCA-EU 1 167926967 167926967 single base substitution C G intron_variant BRCA-EU 1 167927299 167927299 single base substitution G A intron_variant BRCA-EU 1 167927574 167927574 deletion of <=200bp T - intron_variant BRCA-EU 1 167928401 167928401 single base substitution C T intron_variant BRCA-EU 1 167928438 167928438 single base substitution C A intron_variant BRCA-EU 1 167928452 167928452 single base substitution C G intron_variant BRCA-EU 1 167928484 167928484 single base substitution C T intron_variant BRCA-EU 1 167929398 167929398 deletion of <=200bp A - intron_variant BRCA-EU 1 167929565 167929565 single base substitution C G intron_variant BRCA-EU 1 167929784 167929784 single base substitution C T intron_variant BRCA-EU 1 167932190 167932190 single base substitution C T intron_variant BRCA-EU 1 167932342 167932342 single base substitution A T intron_variant BRCA-EU 1 167933636 167933636 single base substitution G C intron_variant BRCA-EU 1 167933636 167933636 single base substitution G C upstream_gene_variant BRCA-EU 1 167934081 167934081 single base substitution G C intron_variant BRCA-EU 1 167934081 167934081 single base substitution G C upstream_gene_variant BRCA-EU 1 167935682 167935682 single base substitution C T intron_variant BRCA-EU 1 167935682 167935682 single base substitution C T upstream_gene_variant BRCA-EU 1 167935741 167935741 single base substitution A G intron_variant BRCA-EU 1 167935741 167935741 single base substitution A G upstream_gene_variant BRCA-EU 1 167936103 167936103 single base substitution G A intron_variant BRCA-EU 1 167936103 167936103 single base substitution G A upstream_gene_variant BRCA-EU 1 167936907 167936907 single base substitution C T intron_variant BRCA-EU 1 167936907 167936907 single base substitution C T upstream_gene_variant BRCA-EU 1 167937447 167937447 single base substitution T G intron_variant BRCA-EU 1 167937447 167937447 single base substitution T G upstream_gene_variant BRCA-EU 1 167938289 167938289 deletion of <=200bp T - intron_variant BRCA-EU 1 167940478 167940478 single base substitution A C intron_variant BRCA-EU 1 167940586 167940586 single base substitution C G intron_variant BRCA-EU 1 167940810 167940810 single base substitution T A intron_variant BRCA-EU 1 167941885 167941885 single base substitution A T intron_variant BRCA-EU 1 167943019 167943019 single base substitution G T intron_variant BRCA-EU 1 167943452 167943452 deletion of <=200bp A - intron_variant BRCA-EU 1 167943921 167943921 single base substitution T A intron_variant BRCA-EU 1 167944427 167944427 insertion of <=200bp - T intron_variant BRCA-EU 1 167945368 167945368 single base substitution A T intron_variant BRCA-EU 1 167946061 167946061 single base substitution C A intron_variant BRCA-EU 1 167946821 167946821 deletion of <=200bp T - intron_variant BRCA-EU 1 167947099 167947099 single base substitution C G intron_variant BRCA-EU 1 167947668 167947668 single base substitution C T intron_variant BRCA-EU 1 167948358 167948358 single base substitution G C intron_variant BRCA-EU 1 167948642 167948676 deletion of <=200bp TCATTCTACTTTCTGTTTCTAAGAATTTGACTATT - intron_variant BRCA-EU 1 167949726 167949726 deletion of <=200bp T - intron_variant BRCA-EU 1 167949865 167949865 single base substitution C T intron_variant BRCA-EU 1 167950279 167950279 single base substitution G T intron_variant BRCA-EU 1 167950637 167950637 single base substitution C T intron_variant BRCA-EU 1 167951524 167951524 single base substitution G A intron_variant BRCA-EU 1 167951672 167951672 single base substitution G T intron_variant BRCA-EU 1 167952424 167952424 single base substitution C G intron_variant BRCA-EU 1 167952474 167952474 single base substitution C T intron_variant BRCA-EU 1 167952991 167952991 single base substitution T A intron_variant BRCA-EU 1 167953686 167953686 single base substitution C T intron_variant BRCA-EU 1 167955989 167955989 deletion of <=200bp T - intron_variant BRCA-EU 1 167957701 167957701 single base substitution G C downstream_gene_variant BRCA-EU 1 167957701 167957701 single base substitution G C intron_variant BRCA-EU 1 167958588 167958588 single base substitution G T downstream_gene_variant BRCA-EU 1 167958588 167958588 single base substitution G T intron_variant BRCA-EU 1 167959956 167959956 single base substitution C G downstream_gene_variant BRCA-EU 1 167959956 167959956 single base substitution C G intron_variant BRCA-EU 1 167960088 167960088 single base substitution A G downstream_gene_variant BRCA-EU 1 167960088 167960088 single base substitution A G intron_variant BRCA-EU 1 167960157 167960157 single base substitution G A downstream_gene_variant BRCA-EU 1 167960157 167960157 single base substitution G A intron_variant BRCA-EU 1 167960631 167960631 single base substitution T G downstream_gene_variant BRCA-EU 1 167960631 167960631 single base substitution T G intron_variant BRCA-EU 1 167961976 167961980 multiple base substitution (>=2bp and <=200bp) TATTC TAA downstream_gene_variant BRCA-EU 1 167961976 167961980 multiple base substitution (>=2bp and <=200bp) TATTC TAA intron_variant BRCA-EU 1 167961980 167961980 single base substitution C A downstream_gene_variant BRCA-EU 1 167961980 167961980 single base substitution C A intron_variant BRCA-EU 1 167961981 167961981 single base substitution T A downstream_gene_variant BRCA-EU 1 167961981 167961981 single base substitution T A intron_variant BRCA-EU 1 167963767 167963767 single base substitution A C downstream_gene_variant BRCA-EU 1 167963767 167963767 single base substitution A C intron_variant BRCA-EU 1 167964014 167964014 single base substitution G C downstream_gene_variant BRCA-EU 1 167964014 167964014 single base substitution G C intron_variant BRCA-EU 1 167964022 167964022 single base substitution G A downstream_gene_variant BRCA-EU 1 167964022 167964022 single base substitution G A intron_variant BRCA-EU 1 167964470 167964470 single base substitution G A downstream_gene_variant BRCA-EU 1 167964470 167964470 single base substitution G A intron_variant BRCA-EU 1 167964542 167964542 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 167964542 167964542 deletion of <=200bp T - intron_variant BRCA-EU 1 167965006 167965006 single base substitution C G downstream_gene_variant BRCA-EU 1 167965006 167965006 single base substitution C G intron_variant BRCA-EU 1 167965419 167965419 single base substitution C A downstream_gene_variant BRCA-EU 1 167965419 167965419 single base substitution C A intron_variant BRCA-EU 1 167966070 167966070 single base substitution C T downstream_gene_variant BRCA-EU 1 167966070 167966070 single base substitution C T intron_variant BRCA-EU 1 167966579 167966579 single base substitution G A downstream_gene_variant BRCA-EU 1 167966579 167966579 single base substitution G A intron_variant BRCA-EU 1 167966672 167966672 single base substitution C G downstream_gene_variant BRCA-EU 1 167966672 167966672 single base substitution C G intron_variant BRCA-EU 1 167967083 167967083 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 167967083 167967083 deletion of <=200bp T - intron_variant BRCA-EU 1 167967707 167967707 single base substitution C T intron_variant BRCA-EU 1 167968340 167968340 single base substitution T C intron_variant BRCA-EU 1 167969200 167969200 single base substitution T A intron_variant BRCA-EU 1 167970219 167970220 deletion of <=200bp TA - intron_variant BRCA-EU 1 167970880 167970880 insertion of <=200bp - T intron_variant BRCA-EU 1 167970963 167970963 single base substitution G A intron_variant BRCA-EU 1 167970976 167970976 single base substitution G C intron_variant BRCA-EU 1 167972603 167972603 single base substitution C T intron_variant BRCA-EU 1 167973085 167973085 single base substitution T C intron_variant BRCA-EU 1 167973485 167973485 deletion of <=200bp T - intron_variant BRCA-EU 1 167974100 167974100 single base substitution G C intron_variant BRCA-EU 1 167977060 167977060 single base substitution C A intron_variant BRCA-EU 1 167978763 167978763 single base substitution C T intron_variant BRCA-EU 1 167978798 167978798 single base substitution C G intron_variant BRCA-EU 1 167979501 167979501 insertion of <=200bp - TA intron_variant BRCA-EU 1 167979815 167979815 single base substitution G A intron_variant BRCA-EU 1 167980252 167980252 single base substitution A G intron_variant BRCA-EU 1 167980252 167980252 single base substitution A G upstream_gene_variant BRCA-EU 1 167980681 167980683 deletion of <=200bp GTG - intron_variant BRCA-EU 1 167980681 167980683 deletion of <=200bp GTG - upstream_gene_variant BRCA-EU 1 167980769 167980769 single base substitution G C intron_variant BRCA-EU 1 167980769 167980769 single base substitution G C upstream_gene_variant BRCA-EU 1 167980887 167980887 single base substitution C G intron_variant BRCA-EU 1 167980887 167980887 single base substitution C G upstream_gene_variant BRCA-EU 1 167981587 167981587 single base substitution T C intron_variant BRCA-EU 1 167981587 167981587 single base substitution T C upstream_gene_variant BRCA-EU 1 167982179 167982179 single base substitution C G intron_variant BRCA-EU 1 167982179 167982179 single base substitution C G upstream_gene_variant BRCA-EU 1 167983374 167983374 single base substitution G A intron_variant BRCA-EU 1 167983374 167983374 single base substitution G A upstream_gene_variant BRCA-EU 1 167984074 167984074 single base substitution G C intron_variant BRCA-EU 1 167984074 167984074 single base substitution G C upstream_gene_variant BRCA-EU 1 167984865 167984865 single base substitution G T intron_variant BRCA-EU 1 167984865 167984865 single base substitution G T upstream_gene_variant BRCA-EU 1 167986466 167986466 single base substitution T G intron_variant BRCA-EU 1 167987781 167987781 single base substitution G C intron_variant BRCA-EU 1 167988429 167988429 single base substitution G C intron_variant BRCA-EU 1 167988818 167988818 single base substitution G C exon_variant BRCA-EU 1 167988818 167988818 single base substitution G C intron_variant BRCA-EU 1 167989540 167989540 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 167989540 167989540 deletion of <=200bp A - intron_variant BRCA-EU 1 167989766 167989766 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 167989766 167989766 deletion of <=200bp A - intron_variant BRCA-EU 1 167990085 167990085 single base substitution G C downstream_gene_variant BRCA-EU 1 167990085 167990085 single base substitution G C intron_variant BRCA-EU 1 167990137 167990137 single base substitution G A downstream_gene_variant BRCA-EU 1 167990137 167990137 single base substitution G A intron_variant BRCA-EU 1 167990468 167990468 single base substitution G A downstream_gene_variant BRCA-EU 1 167990468 167990468 single base substitution G A intron_variant BRCA-EU 1 167990733 167990733 single base substitution G A downstream_gene_variant BRCA-EU 1 167990733 167990733 single base substitution G A intron_variant BRCA-EU 1 167990761 167990761 single base substitution G A downstream_gene_variant BRCA-EU 1 167990761 167990761 single base substitution G A intron_variant BRCA-EU 1 167990884 167990884 single base substitution G A downstream_gene_variant BRCA-EU 1 167990884 167990884 single base substitution G A intron_variant BRCA-EU 1 167990922 167990922 single base substitution T C downstream_gene_variant BRCA-EU 1 167990922 167990922 single base substitution T C intron_variant BRCA-EU 1 167991382 167991382 single base substitution G C downstream_gene_variant BRCA-EU 1 167991382 167991382 single base substitution G C intron_variant BRCA-EU 1 167991501 167991501 single base substitution C T downstream_gene_variant BRCA-EU 1 167991501 167991501 single base substitution C T intron_variant BRCA-EU 1 167992266 167992266 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 167992266 167992266 single base substitution G A downstream_gene_variant BRCA-EU 1 167992266 167992266 single base substitution G A intron_variant BRCA-EU 1 167992266 167992266 single base substitution G A missense_variant M473I 1419G>A BRCA-EU 1 167992266 167992266 single base substitution G A missense_variant M499I 1497G>A BRCA-EU 1 167992266 167992266 single base substitution G A missense_variant M530I 1590G>A BRCA-EU 1 167992476 167992476 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 167992476 167992476 single base substitution T C downstream_gene_variant BRCA-EU 1 167992476 167992476 single base substitution T C intron_variant BRCA-EU 1 167995370 167995370 single base substitution C G downstream_gene_variant BRCA-EU 1 167995370 167995370 single base substitution C G intron_variant BRCA-EU 1 167997483 167997483 single base substitution C T downstream_gene_variant BRCA-EU 1 167997483 167997483 single base substitution C T intron_variant BRCA-EU 1 167997509 167997509 single base substitution C T downstream_gene_variant BRCA-EU 1 167997509 167997509 single base substitution C T intron_variant BRCA-EU 1 167998388 167998388 single base substitution C T intron_variant BRCA-EU 1 168000482 168000482 single base substitution C G intron_variant BRCA-EU 1 168001082 168001082 single base substitution G A intron_variant BRCA-EU 1 168001477 168001477 single base substitution G T intron_variant BRCA-EU 1 168001784 168001784 single base substitution G C intron_variant BRCA-EU 1 168002005 168002005 single base substitution G T intron_variant BRCA-EU 1 168002853 168002853 single base substitution C T intron_variant BRCA-EU 1 168003051 168003051 single base substitution C G intron_variant BRCA-EU 1 168004036 168004036 single base substitution T A intron_variant BRCA-EU 1 168004811 168004811 single base substitution G A intron_variant BRCA-EU 1 168006428 168006428 single base substitution G A intron_variant BRCA-EU 1 168006808 168006808 deletion of <=200bp T - intron_variant BRCA-EU 1 168006808 168006808 insertion of <=200bp - T intron_variant BRCA-EU 1 168006855 168006855 single base substitution T C intron_variant BRCA-EU 1 168007004 168007004 single base substitution G A intron_variant BRCA-EU 1 168007004 168007004 single base substitution G A upstream_gene_variant BRCA-EU 1 168007055 168007055 single base substitution A G intron_variant BRCA-EU 1 168007055 168007055 single base substitution A G upstream_gene_variant BRCA-EU 1 168009540 168009540 single base substitution G A intron_variant BRCA-EU 1 168009540 168009540 single base substitution G A upstream_gene_variant BRCA-EU 1 168010056 168010062 deletion of <=200bp ATTTCTT - intron_variant BRCA-EU 1 168010056 168010062 deletion of <=200bp ATTTCTT - upstream_gene_variant BRCA-EU 1 168010800 168010800 single base substitution G A intron_variant BRCA-EU 1 168010800 168010800 single base substitution G A upstream_gene_variant BRCA-EU 1 168011073 168011073 single base substitution T A intron_variant BRCA-EU 1 168011073 168011073 single base substitution T A upstream_gene_variant BRCA-EU 1 168011324 168011324 single base substitution T A intron_variant BRCA-EU 1 168011324 168011324 single base substitution T A upstream_gene_variant BRCA-EU 1 168011961 168011961 single base substitution C G intron_variant BRCA-EU 1 168011961 168011961 single base substitution C G upstream_gene_variant BRCA-EU 1 168012468 168012485 deletion of <=200bp CTTGTTTTTAATAAATTA - intron_variant BRCA-EU 1 168012468 168012485 deletion of <=200bp CTTGTTTTTAATAAATTA - upstream_gene_variant BRCA-EU 1 168012637 168012637 single base substitution G A intron_variant BRCA-EU 1 168012637 168012637 single base substitution G A upstream_gene_variant BRCA-EU 1 168013913 168013913 single base substitution A T splice_region_variant BRCA-EU 1 168013913 168013913 single base substitution A T upstream_gene_variant BRCA-EU 1 168014133 168014133 single base substitution G C splice_region_variant BRCA-EU 1 168014133 168014133 single base substitution G C upstream_gene_variant BRCA-EU 1 168014189 168014189 single base substitution G C exon_variant BRCA-EU 1 168014189 168014189 single base substitution G C missense_variant R584T 1751G>C BRCA-EU 1 168014189 168014189 single base substitution G C missense_variant R604T 1811G>C BRCA-EU 1 168014189 168014189 single base substitution G C missense_variant R630T 1889G>C BRCA-EU 1 168014189 168014189 single base substitution G C missense_variant R661T 1982G>C BRCA-EU 1 168014189 168014189 single base substitution G C upstream_gene_variant BRCA-EU 1 168014206 168014206 single base substitution G C exon_variant BRCA-EU 1 168014206 168014206 single base substitution G C missense_variant D590H 1768G>C BRCA-EU 1 168014206 168014206 single base substitution G C missense_variant D610H 1828G>C BRCA-EU 1 168014206 168014206 single base substitution G C missense_variant D636H 1906G>C BRCA-EU 1 168014206 168014206 single base substitution G C missense_variant D667H 1999G>C BRCA-EU 1 168014206 168014206 single base substitution G C upstream_gene_variant BRCA-EU 1 168015607 168015607 single base substitution A G intron_variant BRCA-EU 1 168015789 168015789 single base substitution T C intron_variant BRCA-EU 1 168017001 168017001 single base substitution G A intron_variant BRCA-EU 1 168018112 168018112 single base substitution G A intron_variant BRCA-EU 1 168018490 168018490 single base substitution T C intron_variant BRCA-EU 1 168019199 168019199 single base substitution A T intron_variant BRCA-EU 1 168019370 168019370 single base substitution T A intron_variant BRCA-EU 1 168019520 168019520 single base substitution T C intron_variant BRCA-EU 1 168019843 168019843 single base substitution C T intron_variant BRCA-EU 1 168020491 168020491 single base substitution C T intron_variant BRCA-EU 1 168021341 168021341 single base substitution C G intron_variant BRCA-EU 1 168023615 168023615 single base substitution C G intron_variant BRCA-EU 1 168023921 168023921 single base substitution C T intron_variant BRCA-EU 1 168025034 168025034 single base substitution C T intron_variant BRCA-EU 1 168025352 168025352 single base substitution C G intron_variant BRCA-EU 1 168025536 168025536 single base substitution C A intron_variant BRCA-EU 1 168026798 168026798 single base substitution C T intron_variant BRCA-EU 1 168027135 168027136 deletion of <=200bp AA - intron_variant BRCA-EU 1 168027300 168027300 single base substitution T C intron_variant BRCA-EU 1 168027402 168027402 deletion of <=200bp T - intron_variant BRCA-EU 1 168028042 168028042 single base substitution A T intron_variant BRCA-EU 1 168028207 168028207 single base substitution C T intron_variant BRCA-EU 1 168028418 168028418 single base substitution T G intron_variant BRCA-EU 1 168028957 168028957 single base substitution C T intron_variant BRCA-EU 1 168029231 168029231 single base substitution G C intron_variant BRCA-EU 1 168031504 168031504 single base substitution T C intron_variant BRCA-EU 1 168033259 168033259 single base substitution T G downstream_gene_variant BRCA-EU 1 168033259 168033259 single base substitution T G intron_variant BRCA-EU 1 168033887 168033887 single base substitution G A downstream_gene_variant BRCA-EU 1 168033887 168033887 single base substitution G A intron_variant BRCA-EU 1 168035644 168035644 single base substitution A G downstream_gene_variant BRCA-EU 1 168035644 168035644 single base substitution A G exon_variant BRCA-EU 1 168035644 168035644 single base substitution A G missense_variant I785V 2353A>G BRCA-EU 1 168035644 168035644 single base substitution A G missense_variant I805V 2413A>G BRCA-EU 1 168035644 168035644 single base substitution A G missense_variant I845V 2533A>G BRCA-EU 1 168035644 168035644 single base substitution A G missense_variant I876V 2626A>G BRCA-EU 1 168036087 168036087 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 168036087 168036087 insertion of <=200bp - T intron_variant BRCA-EU 1 168038856 168038856 single base substitution A T intron_variant BRCA-EU 1 168039361 168039361 single base substitution G C intron_variant BRCA-EU 1 168040044 168040044 single base substitution C G intron_variant BRCA-EU 1 168041073 168041073 single base substitution C G intron_variant BRCA-EU 1 168042408 168042408 single base substitution G T intron_variant BRCA-EU 1 168043638 168043638 single base substitution G C intron_variant BRCA-EU 1 168044377 168044377 single base substitution T C intron_variant BRCA-EU 1 168044706 168044706 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 168044706 168044706 single base substitution G C exon_variant BRCA-EU 1 168045809 168045809 single base substitution C A downstream_gene_variant BRCA-EU 1 168047861 168047861 single base substitution G C downstream_gene_variant BRCA-EU 1 168047980 168047980 single base substitution A T downstream_gene_variant BRCA-EU 1 168049409 168049409 deletion of <=200bp T - downstream_gene_variant BRCA-FR 1 167900815 167900815 single base substitution C T upstream_gene_variant BRCA-FR 1 167905374 167905374 single base substitution A G intron_variant BRCA-FR 1 167905374 167905374 single base substitution A G upstream_gene_variant BRCA-FR 1 167912498 167912498 single base substitution C T intron_variant BRCA-FR 1 167915411 167915411 single base substitution C G intron_variant BRCA-FR 1 167920159 167920159 single base substitution T C intron_variant BRCA-FR 1 167924769 167924769 single base substitution C T intron_variant BRCA-FR 1 167925124 167925124 single base substitution G C intron_variant BRCA-FR 1 167925514 167925514 single base substitution G C intron_variant BRCA-FR 1 167928401 167928401 single base substitution C T intron_variant BRCA-FR 1 167929784 167929784 single base substitution C T intron_variant BRCA-FR 1 167929890 167929890 single base substitution G A intron_variant BRCA-FR 1 167933636 167933636 single base substitution G C intron_variant BRCA-FR 1 167933636 167933636 single base substitution G C upstream_gene_variant BRCA-FR 1 167943019 167943019 single base substitution G T intron_variant BRCA-FR 1 167949865 167949865 single base substitution C T intron_variant BRCA-FR 1 167960157 167960157 single base substitution G A downstream_gene_variant BRCA-FR 1 167960157 167960157 single base substitution G A intron_variant BRCA-FR 1 167965419 167965419 single base substitution C A downstream_gene_variant BRCA-FR 1 167965419 167965419 single base substitution C A intron_variant BRCA-FR 1 167966579 167966579 single base substitution G A downstream_gene_variant BRCA-FR 1 167966579 167966579 single base substitution G A intron_variant BRCA-FR 1 167969200 167969200 single base substitution T A intron_variant BRCA-FR 1 167972603 167972603 single base substitution C T intron_variant BRCA-FR 1 167972765 167972765 single base substitution G T intron_variant BRCA-FR 1 167975119 167975119 single base substitution C T intron_variant BRCA-FR 1 167980520 167980520 single base substitution A T intron_variant BRCA-FR 1 167980520 167980520 single base substitution A T upstream_gene_variant BRCA-FR 1 167980769 167980769 single base substitution G C intron_variant BRCA-FR 1 167980769 167980769 single base substitution G C upstream_gene_variant BRCA-FR 1 167982179 167982179 single base substitution C G intron_variant BRCA-FR 1 167982179 167982179 single base substitution C G upstream_gene_variant BRCA-FR 1 167984074 167984074 single base substitution G C intron_variant BRCA-FR 1 167984074 167984074 single base substitution G C upstream_gene_variant BRCA-FR 1 167997483 167997483 single base substitution C T downstream_gene_variant BRCA-FR 1 167997483 167997483 single base substitution C T intron_variant BRCA-FR 1 168000482 168000482 single base substitution C G intron_variant BRCA-FR 1 168002005 168002005 single base substitution G T intron_variant BRCA-FR 1 168009540 168009540 single base substitution G A intron_variant BRCA-FR 1 168009540 168009540 single base substitution G A upstream_gene_variant BRCA-FR 1 168011073 168011073 single base substitution T A intron_variant BRCA-FR 1 168011073 168011073 single base substitution T A upstream_gene_variant BRCA-FR 1 168018650 168018650 single base substitution T A intron_variant BRCA-FR 1 168021341 168021341 single base substitution C G intron_variant BRCA-FR 1 168026798 168026798 single base substitution C T intron_variant BRCA-FR 1 168028042 168028042 single base substitution A T intron_variant BRCA-FR 1 168028207 168028207 single base substitution C T intron_variant BRCA-FR 1 168028418 168028418 single base substitution T G intron_variant BRCA-FR 1 168028444 168028444 single base substitution A G intron_variant BRCA-FR 1 168028957 168028957 single base substitution C T intron_variant BRCA-FR 1 168039361 168039361 single base substitution G C intron_variant BRCA-FR 1 168040044 168040044 single base substitution C G intron_variant BRCA-FR 1 168041073 168041073 single base substitution C G intron_variant BRCA-FR 1 168043638 168043638 single base substitution G C intron_variant BRCA-FR 1 168044706 168044706 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 168044706 168044706 single base substitution G C exon_variant BRCA-FR 1 168045751 168045751 single base substitution G A downstream_gene_variant BRCA-KR 1 167967893 167967893 single base substitution T C intron_variant BRCA-UK 1 167932026 167932026 single base substitution C G intron_variant BRCA-UK 1 167935682 167935682 single base substitution C T intron_variant BRCA-UK 1 167935682 167935682 single base substitution C T upstream_gene_variant BRCA-UK 1 167936907 167936907 single base substitution C T intron_variant BRCA-UK 1 167936907 167936907 single base substitution C T upstream_gene_variant BRCA-UK 1 167944139 167944139 insertion of <=200bp - T exon_variant BRCA-UK 1 167944139 167944139 insertion of <=200bp - T frameshift_variant D108D? BRCA-UK 1 167944139 167944139 insertion of <=200bp - T frameshift_variant D77D? BRCA-UK 1 167949655 167949655 single base substitution C G intron_variant BRCA-UK 1 167951524 167951524 single base substitution G A intron_variant BRCA-UK 1 167951865 167951865 single base substitution G C intron_variant BRCA-UK 1 167975804 167975804 single base substitution G A intron_variant BRCA-UK 1 167983374 167983374 single base substitution G A intron_variant BRCA-UK 1 167983374 167983374 single base substitution G A upstream_gene_variant BRCA-UK 1 167986827 167986827 single base substitution C G intron_variant BRCA-UK 1 168007618 168007618 single base substitution A T missense_variant N463I 1388A>T BRCA-UK 1 168007618 168007618 single base substitution A T missense_variant N483I 1448A>T BRCA-UK 1 168007618 168007618 single base substitution A T missense_variant N509I 1526A>T BRCA-UK 1 168007618 168007618 single base substitution A T missense_variant N540I 1619A>T BRCA-UK 1 168007618 168007618 single base substitution A T upstream_gene_variant BRCA-UK 1 168008000 168008000 single base substitution G C intron_variant BRCA-UK 1 168008000 168008000 single base substitution G C upstream_gene_variant BRCA-UK 1 168018171 168018171 single base substitution G C intron_variant BRCA-UK 1 168019216 168019216 single base substitution C A intron_variant BRCA-UK 1 168021772 168021772 single base substitution G T intron_variant BRCA-US 1 167905004 167905004 single base substitution C T upstream_gene_variant BRCA-US 1 167935897 167935897 single base substitution G A exon_variant BRCA-US 1 167935897 167935897 single base substitution G A intron_variant BRCA-US 1 167935897 167935897 single base substitution G A missense_variant E64K 190G>A BRCA-US 1 167935897 167935897 single base substitution G A upstream_gene_variant BRCA-US 1 167960473 167960473 single base substitution C T downstream_gene_variant BRCA-US 1 167960473 167960473 single base substitution C T exon_variant BRCA-US 1 167960473 167960473 single base substitution C T missense_variant T164M 491C>T BRCA-US 1 167960473 167960473 single base substitution C T missense_variant T195M 584C>T BRCA-US 1 167973842 167973842 single base substitution A G exon_variant BRCA-US 1 167973842 167973842 single base substitution A G missense_variant T366A 1096A>G BRCA-US 1 167973842 167973842 single base substitution A G missense_variant T397A 1189A>G BRCA-US 1 167973911 167973911 single base substitution C G exon_variant BRCA-US 1 167973911 167973911 single base substitution C G missense_variant Q389E 1165C>G BRCA-US 1 167973911 167973911 single base substitution C G missense_variant Q420E 1258C>G BRCA-US 1 168032951 168032951 single base substitution C T exon_variant BRCA-US 1 168032951 168032951 single base substitution C T missense_variant P707L 2120C>T BRCA-US 1 168032951 168032951 single base substitution C T missense_variant P727L 2180C>T BRCA-US 1 168032951 168032951 single base substitution C T missense_variant P767L 2300C>T BRCA-US 1 168032951 168032951 single base substitution C T missense_variant P798L 2393C>T BRCA-US 1 168034845 168034845 single base substitution C T downstream_gene_variant BRCA-US 1 168034845 168034845 single base substitution C T exon_variant BRCA-US 1 168034845 168034845 single base substitution C T synonymous_variant F728F 2184C>T BRCA-US 1 168034845 168034845 single base substitution C T synonymous_variant F748F 2244C>T BRCA-US 1 168034845 168034845 single base substitution C T synonymous_variant F788F 2364C>T BRCA-US 1 168034845 168034845 single base substitution C T synonymous_variant F819F 2457C>T BRCA-US 1 168034923 168034923 single base substitution G A downstream_gene_variant BRCA-US 1 168034923 168034923 single base substitution G A exon_variant BRCA-US 1 168034923 168034923 single base substitution G A synonymous_variant L754L 2262G>A BRCA-US 1 168034923 168034923 single base substitution G A synonymous_variant L774L 2322G>A BRCA-US 1 168034923 168034923 single base substitution G A synonymous_variant L814L 2442G>A BRCA-US 1 168034923 168034923 single base substitution G A synonymous_variant L845L 2535G>A BRCA-US 1 168037611 168037611 single base substitution G A downstream_gene_variant BRCA-US 1 168037611 168037611 single base substitution G A exon_variant BRCA-US 1 168037611 168037611 single base substitution G A missense_variant E810K 2428G>A BRCA-US 1 168037611 168037611 single base substitution G A missense_variant E830K 2488G>A BRCA-US 1 168037611 168037611 single base substitution G A missense_variant E870K 2608G>A BRCA-US 1 168037611 168037611 single base substitution G A missense_variant E901K 2701G>A BRCA-US 1 168044617 168044617 single base substitution G T exon_variant BRCA-US 1 168044617 168044617 single base substitution G T stop_gained E843* 2527G>T BRCA-US 1 168044617 168044617 single base substitution G T stop_gained E863* 2587G>T BRCA-US 1 168044617 168044617 single base substitution G T stop_gained E903* 2707G>T BRCA-US 1 168044617 168044617 single base substitution G T stop_gained E934* 2800G>T BRCA-US 1 168044671 168044671 single base substitution T A exon_variant BRCA-US 1 168044671 168044671 single base substitution T A stop_lost *861K 2581T>A BRCA-US 1 168044671 168044671 single base substitution T A stop_lost *881K 2641T>A BRCA-US 1 168044671 168044671 single base substitution T A stop_lost *921K 2761T>A BRCA-US 1 168044671 168044671 single base substitution T A stop_lost *952K 2854T>A BTCA-JP 1 167906398 167906398 single base substitution G T exon_variant BTCA-JP 1 167906398 167906398 single base substitution G T intron_variant BTCA-JP 1 167956819 167956819 single base substitution T C downstream_gene_variant BTCA-JP 1 167956819 167956819 single base substitution T C exon_variant BTCA-JP 1 167956819 167956819 single base substitution T C synonymous_variant T144T 432T>C BTCA-JP 1 167956819 167956819 single base substitution T C synonymous_variant T175T 525T>C BTCA-JP 1 167956882 167956882 single base substitution A G downstream_gene_variant BTCA-JP 1 167956882 167956882 single base substitution A G intron_variant BTCA-JP 1 168007656 168007656 single base substitution G A missense_variant V476I 1426G>A BTCA-JP 1 168007656 168007656 single base substitution G A missense_variant V496I 1486G>A BTCA-JP 1 168007656 168007656 single base substitution G A missense_variant V522I 1564G>A BTCA-JP 1 168007656 168007656 single base substitution G A missense_variant V553I 1657G>A BTCA-JP 1 168007656 168007656 single base substitution G A upstream_gene_variant BTCA-JP 1 168013779 168013779 single base substitution C T intron_variant BTCA-JP 1 168013779 168013779 single base substitution C T upstream_gene_variant BTCA-JP 1 168020195 168020195 single base substitution A T intron_variant BTCA-JP 1 168032926 168032926 single base substitution T C exon_variant BTCA-JP 1 168032926 168032926 single base substitution T C synonymous_variant L699L 2095T>C BTCA-JP 1 168032926 168032926 single base substitution T C synonymous_variant L719L 2155T>C BTCA-JP 1 168032926 168032926 single base substitution T C synonymous_variant L759L 2275T>C BTCA-JP 1 168032926 168032926 single base substitution T C synonymous_variant L790L 2368T>C CESC-US 1 167973897 167973897 single base substitution C T exon_variant CESC-US 1 167973897 167973897 single base substitution C T missense_variant S384F 1151C>T CESC-US 1 167973897 167973897 single base substitution C T missense_variant S415F 1244C>T CESC-US 1 167973911 167973911 single base substitution C G exon_variant CESC-US 1 167973911 167973911 single base substitution C G missense_variant Q389E 1165C>G CESC-US 1 167973911 167973911 single base substitution C G missense_variant Q420E 1258C>G CESC-US 1 168007719 168007719 single base substitution G A missense_variant D497N 1489G>A CESC-US 1 168007719 168007719 single base substitution G A missense_variant D517N 1549G>A CESC-US 1 168007719 168007719 single base substitution G A missense_variant D543N 1627G>A CESC-US 1 168007719 168007719 single base substitution G A missense_variant D574N 1720G>A CESC-US 1 168007719 168007719 single base substitution G A upstream_gene_variant CLLE-ES 1 167920036 167920036 single base substitution C T intron_variant CLLE-ES 1 167936550 167936550 single base substitution T A intron_variant CLLE-ES 1 167936550 167936550 single base substitution T A upstream_gene_variant CLLE-ES 1 167979348 167979348 single base substitution T C intron_variant CLLE-ES 1 167986566 167986566 single base substitution G A intron_variant CLLE-ES 1 167997044 167997044 single base substitution T C downstream_gene_variant CLLE-ES 1 167997044 167997044 single base substitution T C intron_variant CLLE-ES 1 168037108 168037108 single base substitution C G downstream_gene_variant CLLE-ES 1 168037108 168037108 single base substitution C G intron_variant COAD-US 1 167935952 167935952 single base substitution G A exon_variant COAD-US 1 167935952 167935952 single base substitution G A intron_variant COAD-US 1 167935952 167935952 single base substitution G A missense_variant S82N 245G>A COAD-US 1 167935952 167935952 single base substitution G A upstream_gene_variant COAD-US 1 168013850 168013850 single base substitution T C exon_variant COAD-US 1 168013850 168013850 single base substitution T C missense_variant V547A 1640T>C COAD-US 1 168013850 168013850 single base substitution T C missense_variant V567A 1700T>C COAD-US 1 168013850 168013850 single base substitution T C missense_variant V593A 1778T>C COAD-US 1 168013850 168013850 single base substitution T C missense_variant V624A 1871T>C COAD-US 1 168013850 168013850 single base substitution T C upstream_gene_variant COAD-US 1 168013867 168013867 single base substitution G T exon_variant COAD-US 1 168013867 168013867 single base substitution G T stop_gained G553* 1657G>T COAD-US 1 168013867 168013867 single base substitution G T stop_gained G573* 1717G>T COAD-US 1 168013867 168013867 single base substitution G T stop_gained G599* 1795G>T COAD-US 1 168013867 168013867 single base substitution G T stop_gained G630* 1888G>T COAD-US 1 168013867 168013867 single base substitution G T upstream_gene_variant COAD-US 1 168014272 168014272 single base substitution G C exon_variant COAD-US 1 168014272 168014272 single base substitution G C missense_variant D612H 1834G>C COAD-US 1 168014272 168014272 single base substitution G C missense_variant D632H 1894G>C COAD-US 1 168014272 168014272 single base substitution G C missense_variant D658H 1972G>C COAD-US 1 168014272 168014272 single base substitution G C missense_variant D689H 2065G>C COAD-US 1 168014272 168014272 single base substitution G C upstream_gene_variant COAD-US 1 168014363 168014363 single base substitution A C exon_variant COAD-US 1 168014363 168014363 single base substitution A C missense_variant E642A 1925A>C COAD-US 1 168014363 168014363 single base substitution A C missense_variant E662A 1985A>C COAD-US 1 168014363 168014363 single base substitution A C missense_variant E688A 2063A>C COAD-US 1 168014363 168014363 single base substitution A C missense_variant E719A 2156A>C COCA-CN 1 167944109 167944109 single base substitution T C exon_variant COCA-CN 1 167944109 167944109 single base substitution T C synonymous_variant F67F 201T>C COCA-CN 1 167944109 167944109 single base substitution T C synonymous_variant F98F 294T>C COCA-CN 1 168025442 168025442 single base substitution A G intron_variant COCA-CN 1 168025483 168025483 single base substitution C G intron_variant COCA-CN 1 168025536 168025536 single base substitution C A intron_variant EOPC-DE 1 167947084 167947084 single base substitution C T intron_variant EOPC-DE 1 167978624 167978624 single base substitution C T intron_variant EOPC-DE 1 168010230 168010230 single base substitution C T intron_variant EOPC-DE 1 168010230 168010230 single base substitution C T upstream_gene_variant EOPC-DE 1 168010656 168010656 single base substitution C G intron_variant EOPC-DE 1 168010656 168010656 single base substitution C G upstream_gene_variant EOPC-DE 1 168016950 168016950 single base substitution G A intron_variant EOPC-DE 1 168028761 168028761 single base substitution C T intron_variant EOPC-DE 1 168040845 168040845 single base substitution C G intron_variant ESAD-UK 1 167900034 167900034 single base substitution T G upstream_gene_variant ESAD-UK 1 167903186 167903186 single base substitution A T upstream_gene_variant ESAD-UK 1 167904524 167904524 single base substitution G C upstream_gene_variant ESAD-UK 1 167907235 167907235 single base substitution C T intron_variant ESAD-UK 1 167908467 167908467 single base substitution T G intron_variant ESAD-UK 1 167910467 167910467 single base substitution C A intron_variant ESAD-UK 1 167914145 167914145 single base substitution A C intron_variant ESAD-UK 1 167919344 167919344 single base substitution C T intron_variant ESAD-UK 1 167921554 167921554 single base substitution C A intron_variant ESAD-UK 1 167921623 167921623 insertion of <=200bp - G intron_variant ESAD-UK 1 167922523 167922523 single base substitution C T intron_variant ESAD-UK 1 167923470 167923470 single base substitution C T intron_variant ESAD-UK 1 167924921 167924921 single base substitution C T intron_variant ESAD-UK 1 167927574 167927574 single base substitution T G intron_variant ESAD-UK 1 167931072 167931072 single base substitution G C intron_variant ESAD-UK 1 167931968 167931968 single base substitution C T intron_variant ESAD-UK 1 167932389 167932389 single base substitution C T intron_variant ESAD-UK 1 167932798 167932798 single base substitution C A intron_variant ESAD-UK 1 167932798 167932798 single base substitution C A upstream_gene_variant ESAD-UK 1 167934979 167934979 single base substitution C T intron_variant ESAD-UK 1 167934979 167934979 single base substitution C T upstream_gene_variant ESAD-UK 1 167935466 167935466 single base substitution A C intron_variant ESAD-UK 1 167935466 167935466 single base substitution A C upstream_gene_variant ESAD-UK 1 167935795 167935795 single base substitution C T intron_variant ESAD-UK 1 167935795 167935795 single base substitution C T upstream_gene_variant ESAD-UK 1 167939296 167939296 single base substitution G A intron_variant ESAD-UK 1 167940040 167940040 single base substitution G A intron_variant ESAD-UK 1 167940990 167940990 single base substitution C G intron_variant ESAD-UK 1 167942620 167942620 single base substitution G C intron_variant ESAD-UK 1 167943291 167943291 single base substitution G A intron_variant ESAD-UK 1 167945891 167945892 deletion of <=200bp TC - intron_variant ESAD-UK 1 167946222 167946222 single base substitution A G intron_variant ESAD-UK 1 167946673 167946673 single base substitution A G intron_variant ESAD-UK 1 167947265 167947265 deletion of <=200bp T - intron_variant ESAD-UK 1 167950584 167950584 single base substitution G A intron_variant ESAD-UK 1 167952007 167952007 single base substitution C A intron_variant ESAD-UK 1 167954260 167954260 single base substitution C T intron_variant ESAD-UK 1 167954450 167954450 insertion of <=200bp - TGTGGT intron_variant ESAD-UK 1 167956544 167956544 single base substitution A T intron_variant ESAD-UK 1 167956698 167956698 single base substitution C T intron_variant ESAD-UK 1 167956778 167956778 single base substitution G A exon_variant ESAD-UK 1 167956778 167956778 single base substitution G A missense_variant E131K 391G>A ESAD-UK 1 167956778 167956778 single base substitution G A missense_variant E162K 484G>A ESAD-UK 1 167957380 167957380 single base substitution C T downstream_gene_variant ESAD-UK 1 167957380 167957380 single base substitution C T intron_variant ESAD-UK 1 167959654 167959654 single base substitution A G downstream_gene_variant ESAD-UK 1 167959654 167959654 single base substitution A G intron_variant ESAD-UK 1 167960274 167960274 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 167960274 167960274 deletion of <=200bp A - intron_variant ESAD-UK 1 167964689 167964689 single base substitution G A downstream_gene_variant ESAD-UK 1 167964689 167964689 single base substitution G A intron_variant ESAD-UK 1 167964965 167964965 single base substitution G A downstream_gene_variant ESAD-UK 1 167964965 167964965 single base substitution G A intron_variant ESAD-UK 1 167965847 167965847 single base substitution A G downstream_gene_variant ESAD-UK 1 167965847 167965847 single base substitution A G intron_variant ESAD-UK 1 167966199 167966199 single base substitution C T downstream_gene_variant ESAD-UK 1 167966199 167966199 single base substitution C T intron_variant ESAD-UK 1 167969897 167969897 single base substitution G A intron_variant ESAD-UK 1 167970093 167970093 single base substitution G A intron_variant ESAD-UK 1 167970484 167970484 single base substitution G T intron_variant ESAD-UK 1 167976645 167976645 single base substitution G C intron_variant ESAD-UK 1 167978031 167978031 single base substitution C A intron_variant ESAD-UK 1 167979500 167979500 insertion of <=200bp - TT intron_variant ESAD-UK 1 167980492 167980492 single base substitution T G intron_variant ESAD-UK 1 167980492 167980492 single base substitution T G upstream_gene_variant ESAD-UK 1 167981939 167981939 single base substitution T C intron_variant ESAD-UK 1 167981939 167981939 single base substitution T C upstream_gene_variant ESAD-UK 1 167984257 167984257 single base substitution G A intron_variant ESAD-UK 1 167984257 167984257 single base substitution G A upstream_gene_variant ESAD-UK 1 167984966 167984966 single base substitution T C intron_variant ESAD-UK 1 167984966 167984966 single base substitution T C upstream_gene_variant ESAD-UK 1 167985762 167985762 single base substitution C T intron_variant ESAD-UK 1 167986243 167986243 single base substitution G A intron_variant ESAD-UK 1 167986244 167986244 single base substitution T G intron_variant ESAD-UK 1 167987484 167987484 single base substitution C T intron_variant ESAD-UK 1 167988447 167988447 single base substitution C T intron_variant ESAD-UK 1 167988968 167988968 single base substitution C A exon_variant ESAD-UK 1 167988968 167988968 single base substitution C A intron_variant ESAD-UK 1 167989150 167989150 single base substitution C A exon_variant ESAD-UK 1 167989150 167989150 single base substitution C A intron_variant ESAD-UK 1 167990050 167990050 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 167990050 167990050 insertion of <=200bp - A intron_variant ESAD-UK 1 167991180 167991180 single base substitution G A downstream_gene_variant ESAD-UK 1 167991180 167991180 single base substitution G A intron_variant ESAD-UK 1 167996684 167996684 single base substitution G A downstream_gene_variant ESAD-UK 1 167996684 167996684 single base substitution G A intron_variant ESAD-UK 1 167997097 167997097 single base substitution A T downstream_gene_variant ESAD-UK 1 167997097 167997097 single base substitution A T intron_variant ESAD-UK 1 167997651 167997651 single base substitution C A downstream_gene_variant ESAD-UK 1 167997651 167997651 single base substitution C A intron_variant ESAD-UK 1 168000290 168000290 single base substitution C A intron_variant ESAD-UK 1 168000650 168000650 single base substitution T A intron_variant ESAD-UK 1 168003049 168003049 single base substitution T G intron_variant ESAD-UK 1 168004666 168004666 single base substitution C T intron_variant ESAD-UK 1 168008207 168008207 single base substitution C T intron_variant ESAD-UK 1 168008207 168008207 single base substitution C T upstream_gene_variant ESAD-UK 1 168008424 168008424 single base substitution A C intron_variant ESAD-UK 1 168008424 168008424 single base substitution A C upstream_gene_variant ESAD-UK 1 168009471 168009471 single base substitution G T intron_variant ESAD-UK 1 168009471 168009471 single base substitution G T upstream_gene_variant ESAD-UK 1 168011317 168011317 deletion of <=200bp T - intron_variant ESAD-UK 1 168011317 168011317 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 168016942 168016942 single base substitution G A intron_variant ESAD-UK 1 168017254 168017254 single base substitution A G intron_variant ESAD-UK 1 168017315 168017315 single base substitution A T intron_variant ESAD-UK 1 168026585 168026585 single base substitution C T intron_variant ESAD-UK 1 168027742 168027742 single base substitution G T intron_variant ESAD-UK 1 168027862 168027862 single base substitution A T intron_variant ESAD-UK 1 168028256 168028256 deletion of <=200bp T - intron_variant ESAD-UK 1 168028750 168028750 single base substitution T A intron_variant ESAD-UK 1 168028910 168028910 single base substitution G A intron_variant ESAD-UK 1 168030754 168030754 single base substitution G T intron_variant ESAD-UK 1 168032692 168032692 single base substitution C A intron_variant ESAD-UK 1 168033836 168033836 single base substitution G A downstream_gene_variant ESAD-UK 1 168033836 168033836 single base substitution G A intron_variant ESAD-UK 1 168034749 168034749 single base substitution A G downstream_gene_variant ESAD-UK 1 168034749 168034749 single base substitution A G intron_variant ESAD-UK 1 168038194 168038194 single base substitution G A downstream_gene_variant ESAD-UK 1 168038194 168038194 single base substitution G A intron_variant ESAD-UK 1 168039797 168039797 single base substitution G T intron_variant ESAD-UK 1 168039823 168039823 single base substitution T G intron_variant ESAD-UK 1 168040058 168040058 single base substitution A G intron_variant ESAD-UK 1 168040863 168040863 single base substitution C T intron_variant ESAD-UK 1 168044411 168044411 single base substitution T A intron_variant ESAD-UK 1 168044674 168044674 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 168044674 168044674 single base substitution T G exon_variant ESAD-UK 1 168046581 168046581 single base substitution G A downstream_gene_variant ESAD-UK 1 168047093 168047093 single base substitution A T downstream_gene_variant ESAD-UK 1 168048016 168048016 single base substitution G A downstream_gene_variant ESAD-UK 1 168048477 168048477 single base substitution C T downstream_gene_variant KIRC-US 1 167974003 167974003 single base substitution A G exon_variant KIRC-US 1 167974003 167974003 single base substitution A G synonymous_variant A419A 1257A>G KIRC-US 1 167974003 167974003 single base substitution A G synonymous_variant A450A 1350A>G KIRC-US 1 168034953 168034953 single base substitution A T downstream_gene_variant KIRC-US 1 168034953 168034953 single base substitution A T exon_variant KIRC-US 1 168034953 168034953 single base substitution A T synonymous_variant V764V 2292A>T KIRC-US 1 168034953 168034953 single base substitution A T synonymous_variant V784V 2352A>T KIRC-US 1 168034953 168034953 single base substitution A T synonymous_variant V824V 2472A>T KIRC-US 1 168034953 168034953 single base substitution A T synonymous_variant V855V 2565A>T KIRP-US 1 167962583 167962583 single base substitution G A downstream_gene_variant KIRP-US 1 167962583 167962583 single base substitution G A exon_variant KIRP-US 1 167962583 167962583 single base substitution G A missense_variant V239I 715G>A KIRP-US 1 167962583 167962583 single base substitution G A missense_variant V270I 808G>A LAML-KR 1 167901842 167901842 single base substitution T A upstream_gene_variant LAML-KR 1 167916593 167916593 single base substitution C T intron_variant LAML-KR 1 167950174 167950174 single base substitution G T intron_variant LAML-KR 1 168025442 168025442 single base substitution A G intron_variant LAML-KR 1 168025577 168025577 single base substitution C T intron_variant LGG-US 1 167956741 167956741 single base substitution T C exon_variant LGG-US 1 167956741 167956741 single base substitution T C synonymous_variant T118T 354T>C LGG-US 1 167956741 167956741 single base substitution T C synonymous_variant T149T 447T>C LICA-CN 1 167962565 167962565 single base substitution G T downstream_gene_variant LICA-CN 1 167962565 167962565 single base substitution G T exon_variant LICA-CN 1 167962565 167962565 single base substitution G T missense_variant D233Y 697G>T LICA-CN 1 167962565 167962565 single base substitution G T missense_variant D264Y 790G>T LICA-CN 1 168007674 168007674 single base substitution A T missense_variant S482C 1444A>T LICA-CN 1 168007674 168007674 single base substitution A T missense_variant S502C 1504A>T LICA-CN 1 168007674 168007674 single base substitution A T missense_variant S528C 1582A>T LICA-CN 1 168007674 168007674 single base substitution A T missense_variant S559C 1675A>T LICA-CN 1 168007674 168007674 single base substitution A T upstream_gene_variant LICA-FR 1 167921524 167921524 single base substitution A C intron_variant LICA-FR 1 167939670 167939670 single base substitution G T intron_variant LICA-FR 1 167950155 167950155 insertion of <=200bp - T intron_variant LICA-FR 1 167993830 167993830 single base substitution G A downstream_gene_variant LICA-FR 1 167993830 167993830 single base substitution G A intron_variant LICA-FR 1 168011131 168011140 deletion of <=200bp CGCACACACA - intron_variant LICA-FR 1 168011131 168011140 deletion of <=200bp CGCACACACA - upstream_gene_variant LICA-FR 1 168013668 168013668 single base substitution T C intron_variant LICA-FR 1 168013668 168013668 single base substitution T C upstream_gene_variant LICA-FR 1 168029247 168029247 single base substitution T C intron_variant LICA-FR 1 168032277 168032277 single base substitution G A intron_variant LICA-FR 1 168044628 168044628 single base substitution A C exon_variant LICA-FR 1 168044628 168044628 single base substitution A C missense_variant R846S 2538A>C LICA-FR 1 168044628 168044628 single base substitution A C missense_variant R866S 2598A>C LICA-FR 1 168044628 168044628 single base substitution A C missense_variant R906S 2718A>C LICA-FR 1 168044628 168044628 single base substitution A C missense_variant R937S 2811A>C LIHC-US 1 167962525 167962525 deletion of <=200bp T - downstream_gene_variant LIHC-US 1 167962525 167962525 deletion of <=200bp T - exon_variant LIHC-US 1 167962525 167962525 deletion of <=200bp T - frameshift_variant N219 LIHC-US 1 167962525 167962525 deletion of <=200bp T - frameshift_variant N250 LIHC-US 1 167971772 167971772 single base substitution C T exon_variant LIHC-US 1 167971772 167971772 single base substitution C T missense_variant T288I 863C>T LIHC-US 1 167971772 167971772 single base substitution C T missense_variant T319I 956C>T LIHC-US 1 168014320 168014320 single base substitution G C exon_variant LIHC-US 1 168014320 168014320 single base substitution G C missense_variant E628Q 1882G>C LIHC-US 1 168014320 168014320 single base substitution G C missense_variant E648Q 1942G>C LIHC-US 1 168014320 168014320 single base substitution G C missense_variant E674Q 2020G>C LIHC-US 1 168014320 168014320 single base substitution G C missense_variant E705Q 2113G>C LINC-JP 1 167905042 167905042 insertion of <=200bp - T exon_variant LINC-JP 1 167905042 167905042 insertion of <=200bp - T upstream_gene_variant LINC-JP 1 167919975 167919975 insertion of <=200bp - CTT intron_variant LINC-JP 1 167921056 167921056 single base substitution A T exon_variant LINC-JP 1 167921056 167921056 single base substitution A T missense_variant Q39L 116A>T LINC-JP 1 167921703 167921703 single base substitution C T intron_variant LINC-JP 1 167927258 167927258 single base substitution A G intron_variant LINC-JP 1 167934116 167934116 single base substitution C T intron_variant LINC-JP 1 167934116 167934116 single base substitution C T upstream_gene_variant LINC-JP 1 167946447 167946447 deletion of <=200bp T - intron_variant LINC-JP 1 167948588 167948588 single base substitution C G intron_variant LINC-JP 1 167954062 167954062 single base substitution A G intron_variant LINC-JP 1 167963218 167963218 single base substitution G C downstream_gene_variant LINC-JP 1 167963218 167963218 single base substitution G C intron_variant LINC-JP 1 167964505 167964505 single base substitution T G downstream_gene_variant LINC-JP 1 167964505 167964505 single base substitution T G intron_variant LINC-JP 1 167967082 167967082 single base substitution C T downstream_gene_variant LINC-JP 1 167967082 167967082 single base substitution C T intron_variant LINC-JP 1 167971859 167971859 single base substitution A G intron_variant LINC-JP 1 167972504 167972504 single base substitution A T intron_variant LINC-JP 1 167995564 167995564 single base substitution A C downstream_gene_variant LINC-JP 1 167995564 167995564 single base substitution A C intron_variant LINC-JP 1 168003698 168003698 single base substitution A G intron_variant LINC-JP 1 168006090 168006090 single base substitution A G intron_variant LINC-JP 1 168014017 168014017 single base substitution T C intron_variant LINC-JP 1 168014017 168014017 single base substitution T C upstream_gene_variant LINC-JP 1 168014026 168014026 single base substitution T A intron_variant LINC-JP 1 168014026 168014026 single base substitution T A upstream_gene_variant LINC-JP 1 168029307 168029307 single base substitution T G intron_variant LINC-JP 1 168029770 168029770 single base substitution G A intron_variant LINC-JP 1 168037710 168037710 insertion of <=200bp - T downstream_gene_variant LINC-JP 1 168037710 168037710 insertion of <=200bp - T intron_variant LIRI-JP 1 167901259 167901259 single base substitution A G upstream_gene_variant LIRI-JP 1 167901279 167901279 single base substitution C T upstream_gene_variant LIRI-JP 1 167901417 167901417 single base substitution T G upstream_gene_variant LIRI-JP 1 167902134 167902134 single base substitution G A upstream_gene_variant LIRI-JP 1 167902695 167902695 single base substitution G T upstream_gene_variant LIRI-JP 1 167902989 167902989 single base substitution A G upstream_gene_variant LIRI-JP 1 167903191 167903191 single base substitution T C upstream_gene_variant LIRI-JP 1 167906749 167906749 single base substitution G C intron_variant LIRI-JP 1 167906798 167906798 single base substitution C T intron_variant LIRI-JP 1 167907388 167907388 single base substitution C T intron_variant LIRI-JP 1 167908914 167908914 single base substitution T C intron_variant LIRI-JP 1 167908932 167908932 single base substitution T G intron_variant LIRI-JP 1 167909764 167909764 single base substitution A G intron_variant LIRI-JP 1 167910276 167910276 single base substitution T C intron_variant LIRI-JP 1 167910456 167910457 deletion of <=200bp TT - intron_variant LIRI-JP 1 167911094 167911094 single base substitution G A intron_variant LIRI-JP 1 167911811 167911811 single base substitution A G intron_variant LIRI-JP 1 167913303 167913303 single base substitution A G intron_variant LIRI-JP 1 167914755 167914755 single base substitution A G intron_variant LIRI-JP 1 167916392 167916392 single base substitution A G intron_variant LIRI-JP 1 167917258 167917258 single base substitution A G intron_variant LIRI-JP 1 167917533 167917533 single base substitution T A intron_variant LIRI-JP 1 167917929 167917929 single base substitution G T intron_variant LIRI-JP 1 167918938 167918938 single base substitution A G intron_variant LIRI-JP 1 167919375 167919375 single base substitution A G intron_variant LIRI-JP 1 167919997 167919997 single base substitution A G intron_variant LIRI-JP 1 167920113 167920113 single base substitution A G intron_variant LIRI-JP 1 167921292 167921303 deletion of <=200bp TTTCTAATATTA - intron_variant LIRI-JP 1 167921425 167921425 single base substitution A G intron_variant LIRI-JP 1 167923343 167923343 single base substitution C T intron_variant LIRI-JP 1 167923393 167923393 single base substitution A T intron_variant LIRI-JP 1 167923409 167923409 single base substitution A G intron_variant LIRI-JP 1 167925275 167925275 single base substitution A C intron_variant LIRI-JP 1 167927760 167927760 single base substitution C T intron_variant LIRI-JP 1 167928410 167928410 single base substitution A G intron_variant LIRI-JP 1 167928446 167928446 single base substitution C G intron_variant LIRI-JP 1 167929378 167929378 single base substitution A G intron_variant LIRI-JP 1 167930396 167930396 single base substitution G A intron_variant LIRI-JP 1 167930855 167930855 single base substitution A T intron_variant LIRI-JP 1 167931478 167931478 single base substitution C G intron_variant LIRI-JP 1 167932691 167932691 single base substitution C T intron_variant LIRI-JP 1 167933498 167933498 single base substitution A G intron_variant LIRI-JP 1 167933498 167933498 single base substitution A G upstream_gene_variant LIRI-JP 1 167933845 167933845 single base substitution A G intron_variant LIRI-JP 1 167933845 167933845 single base substitution A G upstream_gene_variant LIRI-JP 1 167933921 167933921 single base substitution T G intron_variant LIRI-JP 1 167933921 167933921 single base substitution T G upstream_gene_variant LIRI-JP 1 167934341 167934341 single base substitution A C intron_variant LIRI-JP 1 167934341 167934341 single base substitution A C upstream_gene_variant LIRI-JP 1 167934772 167934772 single base substitution A C intron_variant LIRI-JP 1 167934772 167934772 single base substitution A C upstream_gene_variant LIRI-JP 1 167936005 167936005 single base substitution C G intron_variant LIRI-JP 1 167936005 167936005 single base substitution C G upstream_gene_variant LIRI-JP 1 167936028 167936029 deletion of <=200bp TG - intron_variant LIRI-JP 1 167936028 167936029 deletion of <=200bp TG - upstream_gene_variant LIRI-JP 1 167936066 167936066 single base substitution C T intron_variant LIRI-JP 1 167936066 167936066 single base substitution C T upstream_gene_variant LIRI-JP 1 167936304 167936304 single base substitution T G intron_variant LIRI-JP 1 167936304 167936304 single base substitution T G upstream_gene_variant LIRI-JP 1 167936309 167936309 single base substitution A G intron_variant LIRI-JP 1 167936309 167936309 single base substitution A G upstream_gene_variant LIRI-JP 1 167939202 167939202 single base substitution T G intron_variant LIRI-JP 1 167939548 167939548 single base substitution T G intron_variant LIRI-JP 1 167939715 167939715 single base substitution C T intron_variant LIRI-JP 1 167939826 167939826 single base substitution A G intron_variant LIRI-JP 1 167942562 167942562 single base substitution C T intron_variant LIRI-JP 1 167943007 167943007 single base substitution A G intron_variant LIRI-JP 1 167946218 167946218 single base substitution C T intron_variant LIRI-JP 1 167948699 167948699 single base substitution A G intron_variant LIRI-JP 1 167948817 167948817 single base substitution C T intron_variant LIRI-JP 1 167949224 167949224 single base substitution T G intron_variant LIRI-JP 1 167949278 167949278 single base substitution A G intron_variant LIRI-JP 1 167949796 167949796 single base substitution A G intron_variant LIRI-JP 1 167953735 167953735 single base substitution A G intron_variant LIRI-JP 1 167954078 167954078 single base substitution A G intron_variant LIRI-JP 1 167956483 167956483 single base substitution A T intron_variant LIRI-JP 1 167956592 167956592 single base substitution G T intron_variant LIRI-JP 1 167958183 167958183 single base substitution T C downstream_gene_variant LIRI-JP 1 167958183 167958183 single base substitution T C intron_variant LIRI-JP 1 167959548 167959548 single base substitution A G downstream_gene_variant LIRI-JP 1 167959548 167959548 single base substitution A G intron_variant LIRI-JP 1 167959714 167959714 single base substitution A G downstream_gene_variant LIRI-JP 1 167959714 167959714 single base substitution A G intron_variant LIRI-JP 1 167961005 167961005 single base substitution A C downstream_gene_variant LIRI-JP 1 167961005 167961005 single base substitution A C intron_variant LIRI-JP 1 167961691 167961691 single base substitution A G downstream_gene_variant LIRI-JP 1 167961691 167961691 single base substitution A G intron_variant LIRI-JP 1 167961926 167961926 single base substitution A G downstream_gene_variant LIRI-JP 1 167961926 167961926 single base substitution A G intron_variant LIRI-JP 1 167962845 167962845 single base substitution A G downstream_gene_variant LIRI-JP 1 167962845 167962845 single base substitution A G intron_variant LIRI-JP 1 167966823 167966823 single base substitution A G downstream_gene_variant LIRI-JP 1 167966823 167966823 single base substitution A G intron_variant LIRI-JP 1 167966843 167966843 single base substitution G T downstream_gene_variant LIRI-JP 1 167966843 167966843 single base substitution G T intron_variant LIRI-JP 1 167966985 167966985 single base substitution G A downstream_gene_variant LIRI-JP 1 167966985 167966985 single base substitution G A intron_variant LIRI-JP 1 167967828 167967828 single base substitution G A intron_variant LIRI-JP 1 167969103 167969103 single base substitution C G intron_variant LIRI-JP 1 167969272 167969272 single base substitution A G intron_variant LIRI-JP 1 167969490 167969490 single base substitution A G intron_variant LIRI-JP 1 167970103 167970103 single base substitution T C intron_variant LIRI-JP 1 167970193 167970193 single base substitution A G intron_variant LIRI-JP 1 167972049 167972049 single base substitution A G intron_variant LIRI-JP 1 167974627 167974627 single base substitution T C intron_variant LIRI-JP 1 167975178 167975178 single base substitution A G intron_variant LIRI-JP 1 167976914 167976914 single base substitution C T intron_variant LIRI-JP 1 167981560 167981560 single base substitution A T intron_variant LIRI-JP 1 167981560 167981560 single base substitution A T upstream_gene_variant LIRI-JP 1 167984637 167984637 single base substitution G T intron_variant LIRI-JP 1 167984637 167984637 single base substitution G T upstream_gene_variant LIRI-JP 1 167984638 167984638 single base substitution C T intron_variant LIRI-JP 1 167984638 167984638 single base substitution C T upstream_gene_variant LIRI-JP 1 167989195 167989195 single base substitution G T exon_variant LIRI-JP 1 167989195 167989195 single base substitution G T intron_variant LIRI-JP 1 167991087 167991087 single base substitution C A downstream_gene_variant LIRI-JP 1 167991087 167991087 single base substitution C A intron_variant LIRI-JP 1 167991716 167991716 single base substitution T C downstream_gene_variant LIRI-JP 1 167991716 167991716 single base substitution T C intron_variant LIRI-JP 1 167994612 167994612 single base substitution T G downstream_gene_variant LIRI-JP 1 167994612 167994612 single base substitution T G intron_variant LIRI-JP 1 167997083 167997083 single base substitution A T downstream_gene_variant LIRI-JP 1 167997083 167997083 single base substitution A T intron_variant LIRI-JP 1 167997317 167997317 single base substitution A C downstream_gene_variant LIRI-JP 1 167997317 167997317 single base substitution A C intron_variant LIRI-JP 1 167997652 167997652 single base substitution T C downstream_gene_variant LIRI-JP 1 167997652 167997652 single base substitution T C intron_variant LIRI-JP 1 167998439 167998439 single base substitution A G intron_variant LIRI-JP 1 167998969 167998969 single base substitution A T intron_variant LIRI-JP 1 167999043 167999043 single base substitution C T intron_variant LIRI-JP 1 167999566 167999566 single base substitution A G intron_variant LIRI-JP 1 167999643 167999643 single base substitution A G intron_variant LIRI-JP 1 168000203 168000203 single base substitution C T intron_variant LIRI-JP 1 168003619 168003619 single base substitution C A intron_variant LIRI-JP 1 168003676 168003676 single base substitution A G intron_variant LIRI-JP 1 168003686 168003686 single base substitution C A intron_variant LIRI-JP 1 168003688 168003688 single base substitution A G intron_variant LIRI-JP 1 168003875 168003875 single base substitution A G intron_variant LIRI-JP 1 168005769 168005769 deletion of <=200bp A - intron_variant LIRI-JP 1 168006157 168006157 single base substitution A C intron_variant LIRI-JP 1 168009181 168009181 single base substitution A G intron_variant LIRI-JP 1 168009181 168009181 single base substitution A G upstream_gene_variant LIRI-JP 1 168010293 168010293 single base substitution T G intron_variant LIRI-JP 1 168010293 168010293 single base substitution T G upstream_gene_variant LIRI-JP 1 168011129 168011130 deletion of <=200bp CG - intron_variant LIRI-JP 1 168011129 168011130 deletion of <=200bp CG - upstream_gene_variant LIRI-JP 1 168011426 168011426 single base substitution A G intron_variant LIRI-JP 1 168011426 168011426 single base substitution A G upstream_gene_variant LIRI-JP 1 168011990 168011990 single base substitution A G exon_variant LIRI-JP 1 168011990 168011990 single base substitution A G intron_variant LIRI-JP 1 168011990 168011990 single base substitution A G upstream_gene_variant LIRI-JP 1 168013348 168013348 single base substitution A G intron_variant LIRI-JP 1 168013348 168013348 single base substitution A G upstream_gene_variant LIRI-JP 1 168014209 168014209 single base substitution C T exon_variant LIRI-JP 1 168014209 168014209 single base substitution C T missense_variant R591C 1771C>T LIRI-JP 1 168014209 168014209 single base substitution C T missense_variant R611C 1831C>T LIRI-JP 1 168014209 168014209 single base substitution C T missense_variant R637C 1909C>T LIRI-JP 1 168014209 168014209 single base substitution C T missense_variant R668C 2002C>T LIRI-JP 1 168014209 168014209 single base substitution C T upstream_gene_variant LIRI-JP 1 168016496 168016496 single base substitution A G intron_variant LIRI-JP 1 168016743 168016743 single base substitution T A intron_variant LIRI-JP 1 168017103 168017103 single base substitution A G intron_variant LIRI-JP 1 168017216 168017216 single base substitution A G intron_variant LIRI-JP 1 168018855 168018855 single base substitution G T intron_variant LIRI-JP 1 168020815 168020815 single base substitution A G intron_variant LIRI-JP 1 168022897 168022897 single base substitution T A intron_variant LIRI-JP 1 168025709 168025709 single base substitution C T intron_variant LIRI-JP 1 168026885 168026885 single base substitution G T intron_variant LIRI-JP 1 168027354 168027354 single base substitution T C intron_variant LIRI-JP 1 168028528 168028528 single base substitution A G intron_variant LIRI-JP 1 168029557 168029557 single base substitution A G intron_variant LIRI-JP 1 168029774 168029774 single base substitution A T intron_variant LIRI-JP 1 168030470 168030470 insertion of <=200bp - T intron_variant LIRI-JP 1 168030606 168030606 single base substitution A G intron_variant LIRI-JP 1 168031352 168031352 single base substitution C T intron_variant LIRI-JP 1 168035438 168035438 single base substitution G C downstream_gene_variant LIRI-JP 1 168035438 168035438 single base substitution G C intron_variant LIRI-JP 1 168035850 168035850 single base substitution G C downstream_gene_variant LIRI-JP 1 168035850 168035850 single base substitution G C intron_variant LIRI-JP 1 168036924 168036924 single base substitution A T downstream_gene_variant LIRI-JP 1 168036924 168036924 single base substitution A T intron_variant LIRI-JP 1 168038291 168038291 single base substitution A G intron_variant LIRI-JP 1 168038316 168038316 single base substitution G C intron_variant LIRI-JP 1 168039486 168039486 single base substitution T C intron_variant LIRI-JP 1 168040586 168040586 single base substitution A G intron_variant LIRI-JP 1 168040942 168040942 single base substitution C T intron_variant LIRI-JP 1 168041595 168041595 single base substitution T G intron_variant LIRI-JP 1 168041839 168041839 single base substitution T A intron_variant LIRI-JP 1 168042338 168042338 single base substitution C T intron_variant LIRI-JP 1 168043083 168043083 single base substitution A G intron_variant LIRI-JP 1 168044505 168044505 single base substitution T C intron_variant LIRI-JP 1 168046015 168046015 single base substitution C G downstream_gene_variant LIRI-JP 1 168047461 168047461 single base substitution G T downstream_gene_variant LIRI-JP 1 168047700 168047700 single base substitution G A downstream_gene_variant LIRI-JP 1 168047849 168047849 single base substitution T G downstream_gene_variant LIRI-JP 1 168049050 168049051 deletion of <=200bp AG - downstream_gene_variant LUSC-KR 1 167904155 167904155 single base substitution C G upstream_gene_variant LUSC-KR 1 167912094 167912094 single base substitution C G intron_variant LUSC-KR 1 167913687 167913687 single base substitution C A intron_variant LUSC-KR 1 167914568 167914568 single base substitution G T intron_variant LUSC-KR 1 167920077 167920077 single base substitution C T intron_variant LUSC-KR 1 167924019 167924019 single base substitution G T intron_variant LUSC-KR 1 167927161 167927161 single base substitution G C intron_variant LUSC-KR 1 167931732 167931732 single base substitution G T intron_variant LUSC-KR 1 167940767 167940767 single base substitution A G intron_variant LUSC-KR 1 167946124 167946124 single base substitution G T intron_variant LUSC-KR 1 167959164 167959164 single base substitution C T downstream_gene_variant LUSC-KR 1 167959164 167959164 single base substitution C T intron_variant LUSC-KR 1 167968657 167968657 single base substitution C T intron_variant LUSC-KR 1 167970794 167970794 single base substitution G C intron_variant LUSC-KR 1 167973328 167973328 single base substitution C G intron_variant LUSC-KR 1 167974997 167974997 single base substitution A T intron_variant LUSC-KR 1 167978091 167978091 single base substitution G C intron_variant LUSC-KR 1 167978624 167978624 single base substitution C T intron_variant LUSC-KR 1 167984494 167984494 single base substitution C A intron_variant LUSC-KR 1 167984494 167984494 single base substitution C A upstream_gene_variant LUSC-KR 1 167984543 167984543 single base substitution A T intron_variant LUSC-KR 1 167984543 167984543 single base substitution A T upstream_gene_variant LUSC-KR 1 167985917 167985917 single base substitution G C intron_variant LUSC-KR 1 167988806 167988806 single base substitution G A exon_variant LUSC-KR 1 167988806 167988806 single base substitution G A intron_variant LUSC-KR 1 167990506 167990506 single base substitution G T downstream_gene_variant LUSC-KR 1 167990506 167990506 single base substitution G T intron_variant LUSC-KR 1 167992344 167992344 single base substitution T A 3_prime_UTR_variant LUSC-KR 1 167992344 167992344 single base substitution T A downstream_gene_variant LUSC-KR 1 167992344 167992344 single base substitution T A intron_variant LUSC-KR 1 167998727 167998727 single base substitution G T intron_variant LUSC-KR 1 168003095 168003095 single base substitution A T intron_variant LUSC-KR 1 168013092 168013092 single base substitution A T intron_variant LUSC-KR 1 168013092 168013092 single base substitution A T upstream_gene_variant LUSC-KR 1 168013850 168013850 single base substitution T C exon_variant LUSC-KR 1 168013850 168013850 single base substitution T C missense_variant V547A 1640T>C LUSC-KR 1 168013850 168013850 single base substitution T C missense_variant V567A 1700T>C LUSC-KR 1 168013850 168013850 single base substitution T C missense_variant V593A 1778T>C LUSC-KR 1 168013850 168013850 single base substitution T C missense_variant V624A 1871T>C LUSC-KR 1 168013850 168013850 single base substitution T C upstream_gene_variant LUSC-KR 1 168024678 168024678 single base substitution G A intron_variant LUSC-KR 1 168024786 168024786 single base substitution C T intron_variant LUSC-KR 1 168024947 168024947 single base substitution C T intron_variant LUSC-KR 1 168024948 168024948 single base substitution G A intron_variant LUSC-KR 1 168025051 168025051 single base substitution T G intron_variant LUSC-KR 1 168025536 168025536 single base substitution C A intron_variant LUSC-KR 1 168035896 168035896 single base substitution G C downstream_gene_variant LUSC-KR 1 168035896 168035896 single base substitution G C intron_variant LUSC-KR 1 168035919 168035919 single base substitution A G downstream_gene_variant LUSC-KR 1 168035919 168035919 single base substitution A G intron_variant LUSC-US 1 167962587 167962587 single base substitution G A downstream_gene_variant LUSC-US 1 167962587 167962587 single base substitution G A exon_variant LUSC-US 1 167962587 167962587 single base substitution G A missense_variant S240N 719G>A LUSC-US 1 167962587 167962587 single base substitution G A missense_variant S271N 812G>A LUSC-US 1 168012380 168012380 single base substitution T A splice_donor_variant LUSC-US 1 168012380 168012380 single base substitution T A upstream_gene_variant LUSC-US 1 168037687 168037687 single base substitution A G downstream_gene_variant LUSC-US 1 168037687 168037687 single base substitution A G exon_variant LUSC-US 1 168037687 168037687 single base substitution A G missense_variant N835S 2504A>G LUSC-US 1 168037687 168037687 single base substitution A G missense_variant N855S 2564A>G LUSC-US 1 168037687 168037687 single base substitution A G missense_variant N895S 2684A>G LUSC-US 1 168037687 168037687 single base substitution A G missense_variant N926S 2777A>G MALY-DE 1 167902345 167902345 single base substitution G A upstream_gene_variant MALY-DE 1 167907801 167907801 single base substitution G A intron_variant MALY-DE 1 167915227 167915227 single base substitution T C intron_variant MALY-DE 1 167916534 167916534 single base substitution T G intron_variant MALY-DE 1 167920475 167920475 single base substitution T G intron_variant MALY-DE 1 167924296 167924296 single base substitution T G intron_variant MALY-DE 1 167932816 167932816 insertion of <=200bp - TTACAGGTGCC intron_variant MALY-DE 1 167932816 167932816 insertion of <=200bp - TTACAGGTGCC upstream_gene_variant MALY-DE 1 167943448 167943448 single base substitution C T intron_variant MALY-DE 1 167954423 167954424 deletion of <=200bp GT - intron_variant MALY-DE 1 167964293 167964293 single base substitution C T downstream_gene_variant MALY-DE 1 167964293 167964293 single base substitution C T intron_variant MALY-DE 1 167964744 167964744 single base substitution C T downstream_gene_variant MALY-DE 1 167964744 167964744 single base substitution C T intron_variant MALY-DE 1 167979501 167979502 deletion of <=200bp TA - intron_variant MALY-DE 1 168001336 168001336 single base substitution G C intron_variant MALY-DE 1 168003054 168003054 single base substitution A T intron_variant MALY-DE 1 168007712 168007712 single base substitution C A missense_variant N494K 1482C>A MALY-DE 1 168007712 168007712 single base substitution C A missense_variant N514K 1542C>A MALY-DE 1 168007712 168007712 single base substitution C A missense_variant N540K 1620C>A MALY-DE 1 168007712 168007712 single base substitution C A missense_variant N571K 1713C>A MALY-DE 1 168007712 168007712 single base substitution C A upstream_gene_variant MALY-DE 1 168012596 168012596 single base substitution C T intron_variant MALY-DE 1 168012596 168012596 single base substitution C T upstream_gene_variant MALY-DE 1 168013810 168013810 single base substitution G A intron_variant MALY-DE 1 168013810 168013810 single base substitution G A upstream_gene_variant MALY-DE 1 168024252 168024252 single base substitution T A intron_variant MALY-DE 1 168025508 168025508 single base substitution A C intron_variant MALY-DE 1 168027662 168027662 single base substitution C G intron_variant MALY-DE 1 168028079 168028079 single base substitution A C intron_variant MALY-DE 1 168028172 168028172 single base substitution G C intron_variant MALY-DE 1 168028261 168028261 single base substitution A G intron_variant MALY-DE 1 168031229 168031229 single base substitution A C intron_variant MALY-DE 1 168033268 168033268 single base substitution T C downstream_gene_variant MALY-DE 1 168033268 168033268 single base substitution T C intron_variant MALY-DE 1 168033393 168033393 single base substitution T A downstream_gene_variant MALY-DE 1 168033393 168033393 single base substitution T A intron_variant MALY-DE 1 168034032 168034032 single base substitution A T downstream_gene_variant MALY-DE 1 168034032 168034032 single base substitution A T intron_variant MALY-DE 1 168035687 168035687 single base substitution G A downstream_gene_variant MALY-DE 1 168035687 168035687 single base substitution G A exon_variant MALY-DE 1 168035687 168035687 single base substitution G A missense_variant R799Q 2396G>A MALY-DE 1 168035687 168035687 single base substitution G A missense_variant R819Q 2456G>A MALY-DE 1 168035687 168035687 single base substitution G A missense_variant R859Q 2576G>A MALY-DE 1 168035687 168035687 single base substitution G A missense_variant R890Q 2669G>A MALY-DE 1 168042561 168042561 single base substitution T G intron_variant MALY-DE 1 168042592 168042592 single base substitution A G intron_variant MALY-DE 1 168042593 168042593 single base substitution T A intron_variant MALY-DE 1 168042641 168042641 single base substitution T C intron_variant MALY-DE 1 168044664 168044664 single base substitution T C exon_variant MALY-DE 1 168044664 168044664 single base substitution T C synonymous_variant D858D 2574T>C MALY-DE 1 168044664 168044664 single base substitution T C synonymous_variant D878D 2634T>C MALY-DE 1 168044664 168044664 single base substitution T C synonymous_variant D918D 2754T>C MALY-DE 1 168044664 168044664 single base substitution T C synonymous_variant D949D 2847T>C MALY-DE 1 168045765 168045765 single base substitution T C downstream_gene_variant MALY-DE 1 168045915 168045915 single base substitution G A downstream_gene_variant MALY-DE 1 168049986 168049986 single base substitution G T downstream_gene_variant MELA-AU 1 167900189 167900189 single base substitution G A upstream_gene_variant MELA-AU 1 167900293 167900293 single base substitution C T upstream_gene_variant MELA-AU 1 167903009 167903009 single base substitution C T upstream_gene_variant MELA-AU 1 167903728 167903728 single base substitution T C upstream_gene_variant MELA-AU 1 167904130 167904130 single base substitution A G upstream_gene_variant MELA-AU 1 167904794 167904794 single base substitution G A upstream_gene_variant MELA-AU 1 167905678 167905678 single base substitution C T exon_variant MELA-AU 1 167905678 167905678 single base substitution C T intron_variant MELA-AU 1 167905678 167905678 single base substitution C T upstream_gene_variant MELA-AU 1 167905820 167905820 single base substitution G A intron_variant MELA-AU 1 167905820 167905820 single base substitution G A upstream_gene_variant MELA-AU 1 167905953 167905953 single base substitution G A 5_prime_UTR_variant MELA-AU 1 167905953 167905953 single base substitution G A intron_variant MELA-AU 1 167905953 167905953 single base substitution G A upstream_gene_variant MELA-AU 1 167907290 167907290 single base substitution T C intron_variant MELA-AU 1 167907294 167907294 single base substitution T A intron_variant MELA-AU 1 167907369 167907369 single base substitution C T intron_variant MELA-AU 1 167907510 167907510 single base substitution T G intron_variant MELA-AU 1 167908786 167908786 single base substitution G A intron_variant MELA-AU 1 167910011 167910011 single base substitution C T intron_variant MELA-AU 1 167910263 167910263 single base substitution T A intron_variant MELA-AU 1 167910349 167910349 single base substitution C T intron_variant MELA-AU 1 167912410 167912410 single base substitution G A intron_variant MELA-AU 1 167912483 167912483 single base substitution C T intron_variant MELA-AU 1 167913050 167913050 single base substitution C T intron_variant MELA-AU 1 167913817 167913817 single base substitution C T intron_variant MELA-AU 1 167914218 167914218 single base substitution C T intron_variant MELA-AU 1 167914294 167914294 single base substitution C T intron_variant MELA-AU 1 167914539 167914539 single base substitution G A intron_variant MELA-AU 1 167914607 167914607 single base substitution C T intron_variant MELA-AU 1 167914900 167914900 single base substitution T G intron_variant MELA-AU 1 167915037 167915037 single base substitution C T intron_variant MELA-AU 1 167915748 167915748 single base substitution C T intron_variant MELA-AU 1 167916855 167916855 single base substitution C T intron_variant MELA-AU 1 167916923 167916923 single base substitution C T intron_variant MELA-AU 1 167918820 167918820 single base substitution C T intron_variant MELA-AU 1 167919357 167919357 single base substitution C T intron_variant MELA-AU 1 167919367 167919387 deletion of <=200bp AAGTGGCTAGAGCCATGTTTC - intron_variant MELA-AU 1 167920644 167920644 single base substitution C T intron_variant MELA-AU 1 167920917 167920917 single base substitution G A intron_variant MELA-AU 1 167921752 167921752 single base substitution C T intron_variant MELA-AU 1 167921817 167921817 single base substitution T C intron_variant MELA-AU 1 167921832 167921832 single base substitution C T intron_variant MELA-AU 1 167921883 167921883 single base substitution C T intron_variant MELA-AU 1 167921929 167921929 single base substitution C T intron_variant MELA-AU 1 167922115 167922115 single base substitution C G intron_variant MELA-AU 1 167922195 167922195 single base substitution C T intron_variant MELA-AU 1 167922198 167922198 single base substitution C T intron_variant MELA-AU 1 167922767 167922767 single base substitution T G intron_variant MELA-AU 1 167924438 167924438 single base substitution C T intron_variant MELA-AU 1 167924789 167924789 single base substitution C T intron_variant MELA-AU 1 167924921 167924921 single base substitution C T intron_variant MELA-AU 1 167925016 167925016 single base substitution G A intron_variant MELA-AU 1 167925174 167925174 single base substitution T G intron_variant MELA-AU 1 167925607 167925607 single base substitution C T intron_variant MELA-AU 1 167926305 167926305 single base substitution C T intron_variant MELA-AU 1 167927588 167927588 single base substitution T A intron_variant MELA-AU 1 167928258 167928287 deletion of <=200bp TCCTGTGCTCTGCCTATTTATCACCCACCT - intron_variant MELA-AU 1 167928265 167928265 single base substitution C T intron_variant MELA-AU 1 167928380 167928380 single base substitution C T intron_variant MELA-AU 1 167929405 167929405 single base substitution C T intron_variant MELA-AU 1 167929573 167929573 single base substitution C T intron_variant MELA-AU 1 167929630 167929630 single base substitution G A intron_variant MELA-AU 1 167930572 167930572 single base substitution C T intron_variant MELA-AU 1 167930572 167930573 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 167930704 167930704 single base substitution C T intron_variant MELA-AU 1 167931025 167931025 single base substitution C T intron_variant MELA-AU 1 167931179 167931179 single base substitution C T intron_variant MELA-AU 1 167931240 167931240 single base substitution C T intron_variant MELA-AU 1 167931639 167931639 single base substitution G A intron_variant MELA-AU 1 167932090 167932090 single base substitution G A intron_variant MELA-AU 1 167932172 167932172 single base substitution G A intron_variant MELA-AU 1 167932416 167932416 single base substitution C T intron_variant MELA-AU 1 167932623 167932623 single base substitution T G intron_variant MELA-AU 1 167933551 167933551 single base substitution G A intron_variant MELA-AU 1 167933551 167933551 single base substitution G A upstream_gene_variant MELA-AU 1 167933783 167933783 single base substitution T A intron_variant MELA-AU 1 167933783 167933783 single base substitution T A upstream_gene_variant MELA-AU 1 167933889 167933889 single base substitution C T intron_variant MELA-AU 1 167933889 167933889 single base substitution C T upstream_gene_variant MELA-AU 1 167934125 167934125 single base substitution C T intron_variant MELA-AU 1 167934125 167934125 single base substitution C T upstream_gene_variant MELA-AU 1 167934196 167934196 single base substitution C T intron_variant MELA-AU 1 167934196 167934196 single base substitution C T upstream_gene_variant MELA-AU 1 167934569 167934569 single base substitution C T intron_variant MELA-AU 1 167934569 167934569 single base substitution C T upstream_gene_variant MELA-AU 1 167934734 167934734 single base substitution C T intron_variant MELA-AU 1 167934734 167934734 single base substitution C T upstream_gene_variant MELA-AU 1 167934879 167934879 single base substitution T A intron_variant MELA-AU 1 167934879 167934879 single base substitution T A upstream_gene_variant MELA-AU 1 167935093 167935093 single base substitution G A intron_variant MELA-AU 1 167935093 167935093 single base substitution G A upstream_gene_variant MELA-AU 1 167935115 167935115 single base substitution C T intron_variant MELA-AU 1 167935115 167935115 single base substitution C T upstream_gene_variant MELA-AU 1 167935821 167935821 single base substitution C T intron_variant MELA-AU 1 167935821 167935821 single base substitution C T upstream_gene_variant MELA-AU 1 167935847 167935847 single base substitution C T intron_variant MELA-AU 1 167935847 167935847 single base substitution C T upstream_gene_variant MELA-AU 1 167936069 167936069 single base substitution C T intron_variant MELA-AU 1 167936069 167936069 single base substitution C T upstream_gene_variant MELA-AU 1 167936391 167936391 single base substitution C T intron_variant MELA-AU 1 167936391 167936391 single base substitution C T upstream_gene_variant MELA-AU 1 167936782 167936782 deletion of <=200bp C - intron_variant MELA-AU 1 167936782 167936782 deletion of <=200bp C - upstream_gene_variant MELA-AU 1 167937538 167937538 single base substitution G A intron_variant MELA-AU 1 167937538 167937538 single base substitution G A upstream_gene_variant MELA-AU 1 167937981 167937981 single base substitution C T intron_variant MELA-AU 1 167938291 167938291 single base substitution T A intron_variant MELA-AU 1 167938339 167938339 single base substitution C T intron_variant MELA-AU 1 167938966 167938966 single base substitution C T intron_variant MELA-AU 1 167939209 167939209 single base substitution T C intron_variant MELA-AU 1 167939386 167939386 single base substitution C T intron_variant MELA-AU 1 167940143 167940143 single base substitution C T intron_variant MELA-AU 1 167940461 167940461 single base substitution C T intron_variant MELA-AU 1 167941059 167941059 single base substitution G A intron_variant MELA-AU 1 167941216 167941216 single base substitution C T intron_variant MELA-AU 1 167941951 167941951 single base substitution C T intron_variant MELA-AU 1 167942124 167942124 single base substitution G A intron_variant MELA-AU 1 167942391 167942391 single base substitution A G intron_variant MELA-AU 1 167942659 167942659 single base substitution C T intron_variant MELA-AU 1 167942811 167942811 single base substitution C T intron_variant MELA-AU 1 167942891 167942891 single base substitution C T intron_variant MELA-AU 1 167943765 167943765 single base substitution C T intron_variant MELA-AU 1 167944371 167944371 single base substitution G A intron_variant MELA-AU 1 167945016 167945016 single base substitution C T intron_variant MELA-AU 1 167945032 167945032 single base substitution C T intron_variant MELA-AU 1 167945243 167945243 single base substitution A G intron_variant MELA-AU 1 167946010 167946010 single base substitution T C intron_variant MELA-AU 1 167946061 167946061 single base substitution C T intron_variant MELA-AU 1 167946068 167946068 single base substitution C T intron_variant MELA-AU 1 167946171 167946171 single base substitution C T intron_variant MELA-AU 1 167946232 167946232 single base substitution C T intron_variant MELA-AU 1 167946545 167946545 single base substitution C T intron_variant MELA-AU 1 167946614 167946614 single base substitution C T intron_variant MELA-AU 1 167946927 167946927 single base substitution C T intron_variant MELA-AU 1 167948463 167948463 single base substitution C T intron_variant MELA-AU 1 167948691 167948691 single base substitution T G intron_variant MELA-AU 1 167948904 167948904 single base substitution C T intron_variant MELA-AU 1 167949008 167949008 single base substitution C T intron_variant MELA-AU 1 167949453 167949453 single base substitution C T intron_variant MELA-AU 1 167949544 167949544 single base substitution T C intron_variant MELA-AU 1 167949553 167949553 single base substitution C T intron_variant MELA-AU 1 167949814 167949814 single base substitution C T intron_variant MELA-AU 1 167949817 167949817 single base substitution C T intron_variant MELA-AU 1 167950314 167950314 single base substitution T A intron_variant MELA-AU 1 167950504 167950504 single base substitution C T intron_variant MELA-AU 1 167950616 167950616 single base substitution C T intron_variant MELA-AU 1 167950627 167950627 single base substitution A G intron_variant MELA-AU 1 167950718 167950718 single base substitution G A intron_variant MELA-AU 1 167950967 167950967 single base substitution G A intron_variant MELA-AU 1 167951432 167951432 single base substitution C T intron_variant MELA-AU 1 167951712 167951712 single base substitution C T intron_variant MELA-AU 1 167951804 167951804 single base substitution C T intron_variant MELA-AU 1 167951908 167951908 single base substitution C T intron_variant MELA-AU 1 167952027 167952027 single base substitution C T intron_variant MELA-AU 1 167952430 167952430 single base substitution C T intron_variant MELA-AU 1 167952509 167952509 single base substitution G A intron_variant MELA-AU 1 167952819 167952819 single base substitution C T intron_variant MELA-AU 1 167952947 167952947 single base substitution A G intron_variant MELA-AU 1 167953098 167953098 single base substitution G A intron_variant MELA-AU 1 167953321 167953321 single base substitution C T intron_variant MELA-AU 1 167953658 167953658 single base substitution C T intron_variant MELA-AU 1 167954591 167954591 single base substitution C T intron_variant MELA-AU 1 167954648 167954648 single base substitution C T intron_variant MELA-AU 1 167954819 167954819 single base substitution T C intron_variant MELA-AU 1 167955025 167955025 single base substitution C T intron_variant MELA-AU 1 167955282 167955282 single base substitution A T intron_variant MELA-AU 1 167955549 167955549 single base substitution C T intron_variant MELA-AU 1 167955567 167955567 single base substitution C T intron_variant MELA-AU 1 167955870 167955870 single base substitution C T intron_variant MELA-AU 1 167956698 167956698 single base substitution C T intron_variant MELA-AU 1 167957253 167957253 single base substitution T A downstream_gene_variant MELA-AU 1 167957253 167957253 single base substitution T A intron_variant MELA-AU 1 167957784 167957784 single base substitution T C downstream_gene_variant MELA-AU 1 167957784 167957784 single base substitution T C intron_variant MELA-AU 1 167958120 167958120 single base substitution C T downstream_gene_variant MELA-AU 1 167958120 167958120 single base substitution C T intron_variant MELA-AU 1 167958369 167958369 single base substitution T A downstream_gene_variant MELA-AU 1 167958369 167958369 single base substitution T A intron_variant MELA-AU 1 167958479 167958479 single base substitution C T downstream_gene_variant MELA-AU 1 167958479 167958479 single base substitution C T intron_variant MELA-AU 1 167958733 167958733 single base substitution T A downstream_gene_variant MELA-AU 1 167958733 167958733 single base substitution T A intron_variant MELA-AU 1 167958767 167958767 single base substitution A T downstream_gene_variant MELA-AU 1 167958767 167958767 single base substitution A T intron_variant MELA-AU 1 167959033 167959033 single base substitution C T downstream_gene_variant MELA-AU 1 167959033 167959033 single base substitution C T intron_variant MELA-AU 1 167959056 167959056 single base substitution T C downstream_gene_variant MELA-AU 1 167959056 167959056 single base substitution T C intron_variant MELA-AU 1 167959725 167959725 single base substitution C A downstream_gene_variant MELA-AU 1 167959725 167959725 single base substitution C A intron_variant MELA-AU 1 167960272 167960272 single base substitution C T downstream_gene_variant MELA-AU 1 167960272 167960272 single base substitution C T intron_variant MELA-AU 1 167961398 167961398 single base substitution C T downstream_gene_variant MELA-AU 1 167961398 167961398 single base substitution C T intron_variant MELA-AU 1 167961694 167961694 single base substitution A T downstream_gene_variant MELA-AU 1 167961694 167961694 single base substitution A T intron_variant MELA-AU 1 167961777 167961777 single base substitution A T downstream_gene_variant MELA-AU 1 167961777 167961777 single base substitution A T intron_variant MELA-AU 1 167961889 167961889 single base substitution C T downstream_gene_variant MELA-AU 1 167961889 167961889 single base substitution C T intron_variant MELA-AU 1 167962478 167962478 single base substitution C T downstream_gene_variant MELA-AU 1 167962478 167962478 single base substitution C T exon_variant MELA-AU 1 167962478 167962478 single base substitution C T stop_gained R204* 610C>T MELA-AU 1 167962478 167962478 single base substitution C T stop_gained R235* 703C>T MELA-AU 1 167962956 167962956 single base substitution C T downstream_gene_variant MELA-AU 1 167962956 167962956 single base substitution C T intron_variant MELA-AU 1 167963008 167963009 multiple base substitution (>=2bp and <=200bp) CA AC downstream_gene_variant MELA-AU 1 167963008 167963009 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 1 167964372 167964372 single base substitution C T downstream_gene_variant MELA-AU 1 167964372 167964372 single base substitution C T intron_variant MELA-AU 1 167964994 167964994 single base substitution T C downstream_gene_variant MELA-AU 1 167964994 167964994 single base substitution T C intron_variant MELA-AU 1 167965611 167965611 single base substitution C T downstream_gene_variant MELA-AU 1 167965611 167965611 single base substitution C T intron_variant MELA-AU 1 167967314 167967314 single base substitution C T downstream_gene_variant MELA-AU 1 167967314 167967314 single base substitution C T intron_variant MELA-AU 1 167968333 167968333 single base substitution T G intron_variant MELA-AU 1 167968353 167968353 single base substitution T G intron_variant MELA-AU 1 167968988 167968988 single base substitution G T intron_variant MELA-AU 1 167969063 167969063 single base substitution C T intron_variant MELA-AU 1 167971322 167971322 single base substitution C T intron_variant MELA-AU 1 167972375 167972375 single base substitution C T intron_variant MELA-AU 1 167973471 167973471 single base substitution T C intron_variant MELA-AU 1 167973627 167973627 single base substitution G A intron_variant MELA-AU 1 167974439 167974439 single base substitution C T intron_variant MELA-AU 1 167975477 167975477 single base substitution T C intron_variant MELA-AU 1 167975674 167975674 single base substitution C T intron_variant MELA-AU 1 167976312 167976312 single base substitution C T intron_variant MELA-AU 1 167976603 167976603 single base substitution C T intron_variant MELA-AU 1 167976604 167976605 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 167976970 167976970 single base substitution C T intron_variant MELA-AU 1 167977239 167977239 single base substitution C T intron_variant MELA-AU 1 167977574 167977574 single base substitution C T intron_variant MELA-AU 1 167977627 167977627 single base substitution T A intron_variant MELA-AU 1 167978463 167978463 single base substitution C T intron_variant MELA-AU 1 167978541 167978541 single base substitution C A intron_variant MELA-AU 1 167978583 167978583 single base substitution C T intron_variant MELA-AU 1 167978624 167978624 single base substitution C T intron_variant MELA-AU 1 167978639 167978639 single base substitution T C intron_variant MELA-AU 1 167978666 167978666 single base substitution G C intron_variant MELA-AU 1 167978694 167978694 single base substitution C G intron_variant MELA-AU 1 167978703 167978703 single base substitution C T intron_variant MELA-AU 1 167978710 167978710 single base substitution C T intron_variant MELA-AU 1 167978722 167978722 single base substitution T C intron_variant MELA-AU 1 167978736 167978736 single base substitution C T intron_variant MELA-AU 1 167978767 167978767 single base substitution C T intron_variant MELA-AU 1 167978805 167978805 single base substitution C T intron_variant MELA-AU 1 167978850 167978850 single base substitution C T intron_variant MELA-AU 1 167979236 167979236 single base substitution G A intron_variant MELA-AU 1 167979535 167979535 single base substitution C T intron_variant MELA-AU 1 167980123 167980123 single base substitution G A intron_variant MELA-AU 1 167980232 167980232 single base substitution G A intron_variant MELA-AU 1 167980232 167980232 single base substitution G A upstream_gene_variant MELA-AU 1 167981244 167981244 single base substitution G A intron_variant MELA-AU 1 167981244 167981244 single base substitution G A upstream_gene_variant MELA-AU 1 167981703 167981703 single base substitution C T intron_variant MELA-AU 1 167981703 167981703 single base substitution C T upstream_gene_variant MELA-AU 1 167981998 167981998 single base substitution A G intron_variant MELA-AU 1 167981998 167981998 single base substitution A G upstream_gene_variant MELA-AU 1 167982777 167982777 deletion of <=200bp T - intron_variant MELA-AU 1 167982777 167982777 deletion of <=200bp T - upstream_gene_variant MELA-AU 1 167982841 167982841 single base substitution C T intron_variant MELA-AU 1 167982841 167982841 single base substitution C T upstream_gene_variant MELA-AU 1 167983223 167983223 single base substitution C T intron_variant MELA-AU 1 167983223 167983223 single base substitution C T upstream_gene_variant MELA-AU 1 167983491 167983491 single base substitution C T intron_variant MELA-AU 1 167983491 167983491 single base substitution C T upstream_gene_variant MELA-AU 1 167983631 167983631 single base substitution C T intron_variant MELA-AU 1 167983631 167983631 single base substitution C T upstream_gene_variant MELA-AU 1 167983723 167983723 single base substitution C T intron_variant MELA-AU 1 167983723 167983723 single base substitution C T upstream_gene_variant MELA-AU 1 167983801 167983801 single base substitution C T intron_variant MELA-AU 1 167983801 167983801 single base substitution C T upstream_gene_variant MELA-AU 1 167983805 167983805 single base substitution T C intron_variant MELA-AU 1 167983805 167983805 single base substitution T C upstream_gene_variant MELA-AU 1 167984559 167984559 single base substitution A T intron_variant MELA-AU 1 167984559 167984559 single base substitution A T upstream_gene_variant MELA-AU 1 167985209 167985209 single base substitution C T intron_variant MELA-AU 1 167985673 167985673 single base substitution C T intron_variant MELA-AU 1 167985733 167985733 single base substitution A G intron_variant MELA-AU 1 167986373 167986373 single base substitution T A intron_variant MELA-AU 1 167986440 167986440 single base substitution G A intron_variant MELA-AU 1 167986561 167986561 single base substitution C T intron_variant MELA-AU 1 167987767 167987767 single base substitution C T intron_variant MELA-AU 1 167988774 167988774 single base substitution C T intron_variant MELA-AU 1 167988849 167988849 single base substitution C T 3_prime_UTR_variant MELA-AU 1 167988849 167988849 single base substitution C T exon_variant MELA-AU 1 167988849 167988849 single base substitution C T intron_variant MELA-AU 1 167989679 167989679 single base substitution C G downstream_gene_variant MELA-AU 1 167989679 167989679 single base substitution C G intron_variant MELA-AU 1 167990183 167990183 single base substitution A T downstream_gene_variant MELA-AU 1 167990183 167990183 single base substitution A T intron_variant MELA-AU 1 167990729 167990729 single base substitution A G downstream_gene_variant MELA-AU 1 167990729 167990729 single base substitution A G intron_variant MELA-AU 1 167991073 167991073 single base substitution C T downstream_gene_variant MELA-AU 1 167991073 167991073 single base substitution C T intron_variant MELA-AU 1 167991107 167991107 single base substitution G A downstream_gene_variant MELA-AU 1 167991107 167991107 single base substitution G A intron_variant MELA-AU 1 167991824 167991824 single base substitution C T downstream_gene_variant MELA-AU 1 167991824 167991824 single base substitution C T intron_variant MELA-AU 1 167991933 167991933 single base substitution C T downstream_gene_variant MELA-AU 1 167991933 167991933 single base substitution C T intron_variant MELA-AU 1 167992376 167992376 single base substitution C T 3_prime_UTR_variant MELA-AU 1 167992376 167992376 single base substitution C T downstream_gene_variant MELA-AU 1 167992376 167992376 single base substitution C T intron_variant MELA-AU 1 167992737 167992737 single base substitution C T 3_prime_UTR_variant MELA-AU 1 167992737 167992737 single base substitution C T downstream_gene_variant MELA-AU 1 167992737 167992737 single base substitution C T intron_variant MELA-AU 1 167992907 167992907 single base substitution T C 3_prime_UTR_variant MELA-AU 1 167992907 167992907 single base substitution T C downstream_gene_variant MELA-AU 1 167992907 167992907 single base substitution T C intron_variant MELA-AU 1 167993338 167993338 single base substitution C T downstream_gene_variant MELA-AU 1 167993338 167993338 single base substitution C T intron_variant MELA-AU 1 167993354 167993354 single base substitution C T downstream_gene_variant MELA-AU 1 167993354 167993354 single base substitution C T intron_variant MELA-AU 1 167993727 167993727 single base substitution C T downstream_gene_variant MELA-AU 1 167993727 167993727 single base substitution C T intron_variant MELA-AU 1 167993792 167993792 single base substitution C T downstream_gene_variant MELA-AU 1 167993792 167993792 single base substitution C T intron_variant MELA-AU 1 167995426 167995426 single base substitution A G downstream_gene_variant MELA-AU 1 167995426 167995426 single base substitution A G intron_variant MELA-AU 1 167995638 167995638 single base substitution C T downstream_gene_variant MELA-AU 1 167995638 167995638 single base substitution C T intron_variant MELA-AU 1 167995891 167995891 single base substitution C T downstream_gene_variant MELA-AU 1 167995891 167995891 single base substitution C T intron_variant MELA-AU 1 167996701 167996701 single base substitution C T downstream_gene_variant MELA-AU 1 167996701 167996701 single base substitution C T intron_variant MELA-AU 1 167996718 167996718 single base substitution C T downstream_gene_variant MELA-AU 1 167996718 167996718 single base substitution C T intron_variant MELA-AU 1 167997389 167997389 single base substitution C T downstream_gene_variant MELA-AU 1 167997389 167997389 single base substitution C T intron_variant MELA-AU 1 167997507 167997507 single base substitution T G downstream_gene_variant MELA-AU 1 167997507 167997507 single base substitution T G intron_variant MELA-AU 1 167998372 167998372 single base substitution C T intron_variant MELA-AU 1 167998401 167998401 single base substitution C T intron_variant MELA-AU 1 167998628 167998628 single base substitution C T intron_variant MELA-AU 1 167999450 167999450 single base substitution C T intron_variant MELA-AU 1 167999682 167999682 single base substitution G A intron_variant MELA-AU 1 168001437 168001437 single base substitution G A intron_variant MELA-AU 1 168001613 168001613 single base substitution C T intron_variant MELA-AU 1 168001830 168001830 single base substitution T A intron_variant MELA-AU 1 168002046 168002047 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 168002177 168002177 single base substitution C T intron_variant MELA-AU 1 168002917 168002917 single base substitution C T intron_variant MELA-AU 1 168003324 168003324 single base substitution T A intron_variant MELA-AU 1 168004347 168004347 single base substitution G T intron_variant MELA-AU 1 168005722 168005722 single base substitution C T intron_variant MELA-AU 1 168007101 168007101 single base substitution C T intron_variant MELA-AU 1 168007101 168007101 single base substitution C T upstream_gene_variant MELA-AU 1 168008996 168008996 single base substitution G A intron_variant MELA-AU 1 168008996 168008996 single base substitution G A upstream_gene_variant MELA-AU 1 168009597 168009597 deletion of <=200bp T - intron_variant MELA-AU 1 168009597 168009597 deletion of <=200bp T - upstream_gene_variant MELA-AU 1 168009951 168009951 single base substitution T A intron_variant MELA-AU 1 168009951 168009951 single base substitution T A upstream_gene_variant MELA-AU 1 168010195 168010195 single base substitution A C intron_variant MELA-AU 1 168010195 168010195 single base substitution A C upstream_gene_variant MELA-AU 1 168010784 168010784 single base substitution C T intron_variant MELA-AU 1 168010784 168010784 single base substitution C T upstream_gene_variant MELA-AU 1 168010874 168010874 single base substitution C T intron_variant MELA-AU 1 168010874 168010874 single base substitution C T upstream_gene_variant MELA-AU 1 168010892 168010892 single base substitution C T intron_variant MELA-AU 1 168010892 168010892 single base substitution C T upstream_gene_variant MELA-AU 1 168011024 168011024 single base substitution C T intron_variant MELA-AU 1 168011024 168011024 single base substitution C T upstream_gene_variant MELA-AU 1 168011129 168011130 deletion of <=200bp CG - intron_variant MELA-AU 1 168011129 168011130 deletion of <=200bp CG - upstream_gene_variant MELA-AU 1 168011370 168011370 single base substitution C T intron_variant MELA-AU 1 168011370 168011370 single base substitution C T upstream_gene_variant MELA-AU 1 168012530 168012531 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 168012530 168012531 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 168013235 168013235 single base substitution C T intron_variant MELA-AU 1 168013235 168013235 single base substitution C T upstream_gene_variant MELA-AU 1 168013383 168013383 single base substitution G A intron_variant MELA-AU 1 168013383 168013383 single base substitution G A upstream_gene_variant MELA-AU 1 168013438 168013438 single base substitution C A intron_variant MELA-AU 1 168013438 168013438 single base substitution C A upstream_gene_variant MELA-AU 1 168013527 168013527 single base substitution C T intron_variant MELA-AU 1 168013527 168013527 single base substitution C T upstream_gene_variant MELA-AU 1 168013998 168013998 single base substitution C T intron_variant MELA-AU 1 168013998 168013998 single base substitution C T upstream_gene_variant MELA-AU 1 168014224 168014224 single base substitution C T exon_variant MELA-AU 1 168014224 168014224 single base substitution C T missense_variant P596S 1786C>T MELA-AU 1 168014224 168014224 single base substitution C T missense_variant P616S 1846C>T MELA-AU 1 168014224 168014224 single base substitution C T missense_variant P642S 1924C>T MELA-AU 1 168014224 168014224 single base substitution C T missense_variant P673S 2017C>T MELA-AU 1 168014224 168014224 single base substitution C T upstream_gene_variant MELA-AU 1 168014537 168014537 single base substitution G A intron_variant MELA-AU 1 168014973 168014973 single base substitution C T intron_variant MELA-AU 1 168015781 168015781 single base substitution T A intron_variant MELA-AU 1 168017417 168017417 single base substitution T A intron_variant MELA-AU 1 168017489 168017489 single base substitution C T intron_variant MELA-AU 1 168017752 168017752 single base substitution T G intron_variant MELA-AU 1 168018449 168018449 single base substitution C T intron_variant MELA-AU 1 168018705 168018705 single base substitution C T intron_variant MELA-AU 1 168018929 168018929 single base substitution C T intron_variant MELA-AU 1 168019427 168019427 single base substitution C T intron_variant MELA-AU 1 168019484 168019484 single base substitution T C intron_variant MELA-AU 1 168019559 168019559 single base substitution T C intron_variant MELA-AU 1 168020059 168020059 single base substitution C T intron_variant MELA-AU 1 168020545 168020545 single base substitution C T intron_variant MELA-AU 1 168020662 168020662 single base substitution G A intron_variant MELA-AU 1 168021134 168021134 single base substitution C T intron_variant MELA-AU 1 168021477 168021477 single base substitution T G intron_variant MELA-AU 1 168021963 168021963 single base substitution C T intron_variant MELA-AU 1 168022149 168022149 single base substitution C T intron_variant MELA-AU 1 168023285 168023285 single base substitution C T intron_variant MELA-AU 1 168023543 168023544 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 168023598 168023600 deletion of <=200bp TCT - intron_variant MELA-AU 1 168025170 168025170 single base substitution T C intron_variant MELA-AU 1 168025330 168025330 single base substitution C T intron_variant MELA-AU 1 168025489 168025489 single base substitution C T intron_variant MELA-AU 1 168025498 168025498 single base substitution C T intron_variant MELA-AU 1 168025560 168025560 single base substitution C T intron_variant MELA-AU 1 168025804 168025804 single base substitution G A intron_variant MELA-AU 1 168025985 168025985 single base substitution C T intron_variant MELA-AU 1 168026248 168026248 single base substitution C T intron_variant MELA-AU 1 168026358 168026358 single base substitution C T intron_variant MELA-AU 1 168026467 168026467 deletion of <=200bp T - intron_variant MELA-AU 1 168026612 168026612 single base substitution C G intron_variant MELA-AU 1 168026705 168026705 single base substitution T C intron_variant MELA-AU 1 168027447 168027447 single base substitution A C intron_variant MELA-AU 1 168028057 168028057 single base substitution C T intron_variant MELA-AU 1 168028957 168028957 single base substitution C T intron_variant MELA-AU 1 168029548 168029548 single base substitution G A intron_variant MELA-AU 1 168030306 168030306 single base substitution C T intron_variant MELA-AU 1 168031032 168031032 single base substitution G A intron_variant MELA-AU 1 168031139 168031139 single base substitution C T intron_variant MELA-AU 1 168032586 168032586 single base substitution C T intron_variant MELA-AU 1 168032852 168032852 single base substitution C T intron_variant MELA-AU 1 168032852 168032852 single base substitution C T splice_region_variant MELA-AU 1 168033132 168033132 single base substitution C T exon_variant MELA-AU 1 168033132 168033132 single base substitution C T intron_variant MELA-AU 1 168033258 168033258 single base substitution T G downstream_gene_variant MELA-AU 1 168033258 168033258 single base substitution T G intron_variant MELA-AU 1 168033741 168033741 single base substitution T A downstream_gene_variant MELA-AU 1 168033741 168033741 single base substitution T A intron_variant MELA-AU 1 168034562 168034562 single base substitution T A downstream_gene_variant MELA-AU 1 168034562 168034562 single base substitution T A intron_variant MELA-AU 1 168034933 168034933 single base substitution G A downstream_gene_variant MELA-AU 1 168034933 168034933 single base substitution G A exon_variant MELA-AU 1 168034933 168034933 single base substitution G A missense_variant E758K 2272G>A MELA-AU 1 168034933 168034933 single base substitution G A missense_variant E778K 2332G>A MELA-AU 1 168034933 168034933 single base substitution G A missense_variant E818K 2452G>A MELA-AU 1 168034933 168034933 single base substitution G A missense_variant E849K 2545G>A MELA-AU 1 168036069 168036069 single base substitution C T downstream_gene_variant MELA-AU 1 168036069 168036069 single base substitution C T intron_variant MELA-AU 1 168036452 168036452 single base substitution C T downstream_gene_variant MELA-AU 1 168036452 168036452 single base substitution C T intron_variant MELA-AU 1 168039342 168039342 single base substitution C T intron_variant MELA-AU 1 168039731 168039731 single base substitution T C intron_variant MELA-AU 1 168039747 168039747 single base substitution C T intron_variant MELA-AU 1 168039792 168039792 single base substitution C T intron_variant MELA-AU 1 168039841 168039841 single base substitution C T intron_variant MELA-AU 1 168040251 168040251 single base substitution C T intron_variant MELA-AU 1 168040531 168040531 single base substitution T C intron_variant MELA-AU 1 168041628 168041628 single base substitution C T intron_variant MELA-AU 1 168041837 168041837 single base substitution C T intron_variant MELA-AU 1 168042368 168042368 single base substitution C T intron_variant MELA-AU 1 168042383 168042383 single base substitution C T intron_variant MELA-AU 1 168042721 168042721 single base substitution T G intron_variant MELA-AU 1 168042807 168042807 single base substitution C T intron_variant MELA-AU 1 168043162 168043162 single base substitution T C intron_variant MELA-AU 1 168044399 168044399 single base substitution C T intron_variant MELA-AU 1 168044592 168044592 single base substitution C T intron_variant MELA-AU 1 168044599 168044599 single base substitution G A intron_variant MELA-AU 1 168044932 168044932 single base substitution C T 3_prime_UTR_variant MELA-AU 1 168044932 168044932 single base substitution C T downstream_gene_variant MELA-AU 1 168044932 168044932 single base substitution C T exon_variant MELA-AU 1 168045087 168045087 single base substitution C T downstream_gene_variant MELA-AU 1 168046065 168046065 single base substitution A C downstream_gene_variant MELA-AU 1 168046236 168046236 single base substitution C T downstream_gene_variant MELA-AU 1 168048273 168048273 single base substitution C T downstream_gene_variant MELA-AU 1 168048306 168048306 single base substitution G A downstream_gene_variant ORCA-IN 1 167929715 167929715 single base substitution C G intron_variant ORCA-IN 1 167961522 167961522 single base substitution A C downstream_gene_variant ORCA-IN 1 167961522 167961522 single base substitution A C intron_variant ORCA-IN 1 167980286 167980286 single base substitution G A intron_variant ORCA-IN 1 167980286 167980286 single base substitution G A upstream_gene_variant ORCA-IN 1 167999119 167999119 single base substitution G C intron_variant ORCA-IN 1 168013841 168013841 single base substitution C T exon_variant ORCA-IN 1 168013841 168013841 single base substitution C T missense_variant S544L 1631C>T ORCA-IN 1 168013841 168013841 single base substitution C T missense_variant S564L 1691C>T ORCA-IN 1 168013841 168013841 single base substitution C T missense_variant S590L 1769C>T ORCA-IN 1 168013841 168013841 single base substitution C T missense_variant S621L 1862C>T ORCA-IN 1 168013841 168013841 single base substitution C T upstream_gene_variant OV-AU 1 167900669 167900669 single base substitution T C upstream_gene_variant OV-AU 1 167905826 167905826 single base substitution T G intron_variant OV-AU 1 167905826 167905826 single base substitution T G upstream_gene_variant OV-AU 1 167909433 167909433 single base substitution A T intron_variant OV-AU 1 167922361 167922361 single base substitution C A intron_variant OV-AU 1 167923839 167923839 single base substitution C T intron_variant OV-AU 1 167924716 167924716 single base substitution C G intron_variant OV-AU 1 167927927 167927927 single base substitution T A intron_variant OV-AU 1 167933494 167933494 single base substitution G T intron_variant OV-AU 1 167933494 167933494 single base substitution G T upstream_gene_variant OV-AU 1 167933520 167933520 single base substitution T G intron_variant OV-AU 1 167933520 167933520 single base substitution T G upstream_gene_variant OV-AU 1 167937254 167937254 single base substitution C T intron_variant OV-AU 1 167937254 167937254 single base substitution C T upstream_gene_variant OV-AU 1 167939490 167939490 single base substitution C T intron_variant OV-AU 1 167940571 167940571 single base substitution A G intron_variant OV-AU 1 167941203 167941203 single base substitution C T intron_variant OV-AU 1 167943766 167943766 single base substitution G A intron_variant OV-AU 1 167944854 167944854 single base substitution G C intron_variant OV-AU 1 167945558 167945558 single base substitution T G intron_variant OV-AU 1 167945837 167945837 single base substitution C G intron_variant OV-AU 1 167952574 167952574 single base substitution T C intron_variant OV-AU 1 167959913 167959913 single base substitution G C downstream_gene_variant OV-AU 1 167959913 167959913 single base substitution G C intron_variant OV-AU 1 167962944 167962944 single base substitution G A downstream_gene_variant OV-AU 1 167962944 167962944 single base substitution G A intron_variant OV-AU 1 167965920 167965920 single base substitution T C downstream_gene_variant OV-AU 1 167965920 167965920 single base substitution T C intron_variant OV-AU 1 167968636 167968636 single base substitution C G intron_variant OV-AU 1 167978666 167978666 single base substitution G C intron_variant OV-AU 1 167980649 167980649 single base substitution C T intron_variant OV-AU 1 167980649 167980649 single base substitution C T upstream_gene_variant OV-AU 1 167983530 167983530 single base substitution G C intron_variant OV-AU 1 167983530 167983530 single base substitution G C upstream_gene_variant OV-AU 1 167983540 167983540 single base substitution C A intron_variant OV-AU 1 167983540 167983540 single base substitution C A upstream_gene_variant OV-AU 1 167985636 167985636 single base substitution A G intron_variant OV-AU 1 167985779 167985779 single base substitution C T intron_variant OV-AU 1 167996867 167996867 single base substitution G A downstream_gene_variant OV-AU 1 167996867 167996867 single base substitution G A intron_variant OV-AU 1 168013323 168013323 single base substitution A T intron_variant OV-AU 1 168013323 168013323 single base substitution A T upstream_gene_variant OV-AU 1 168018454 168018454 single base substitution A C intron_variant OV-AU 1 168037927 168037927 single base substitution G A downstream_gene_variant OV-AU 1 168037927 168037927 single base substitution G A intron_variant OV-AU 1 168039816 168039816 single base substitution C G intron_variant OV-AU 1 168045337 168045337 single base substitution A T downstream_gene_variant OV-AU 1 168047325 168047325 single base substitution G T downstream_gene_variant PACA-AU 1 167900965 167900965 single base substitution A T upstream_gene_variant PACA-AU 1 167905621 167905621 single base substitution C T exon_variant PACA-AU 1 167905621 167905621 single base substitution C T intron_variant PACA-AU 1 167905621 167905621 single base substitution C T upstream_gene_variant PACA-AU 1 167914298 167914298 single base substitution A G intron_variant PACA-AU 1 167928641 167928641 deletion of <=200bp C - intron_variant PACA-AU 1 167932457 167932457 single base substitution G A intron_variant PACA-AU 1 167950609 167950609 deletion of <=200bp T - intron_variant PACA-AU 1 167950779 167950787 deletion of <=200bp GCTCTACTA - intron_variant PACA-AU 1 167951414 167951414 single base substitution G A intron_variant PACA-AU 1 167963080 167963080 single base substitution C A downstream_gene_variant PACA-AU 1 167963080 167963080 single base substitution C A intron_variant PACA-AU 1 167965206 167965206 single base substitution T C downstream_gene_variant PACA-AU 1 167965206 167965206 single base substitution T C intron_variant PACA-AU 1 167974059 167974059 single base substitution T G intron_variant PACA-AU 1 167981679 167981679 deletion of <=200bp T - intron_variant PACA-AU 1 167981679 167981679 deletion of <=200bp T - upstream_gene_variant PACA-AU 1 167983040 167983040 single base substitution A G intron_variant PACA-AU 1 167983040 167983040 single base substitution A G upstream_gene_variant PACA-AU 1 167986464 167986464 insertion of <=200bp - G intron_variant PACA-AU 1 167987018 167987018 single base substitution C A intron_variant PACA-AU 1 167992888 167992888 single base substitution C T 3_prime_UTR_variant PACA-AU 1 167992888 167992888 single base substitution C T downstream_gene_variant PACA-AU 1 167992888 167992888 single base substitution C T intron_variant PACA-AU 1 167994636 167994636 single base substitution T C downstream_gene_variant PACA-AU 1 167994636 167994636 single base substitution T C intron_variant PACA-AU 1 167996983 167996983 single base substitution A T downstream_gene_variant PACA-AU 1 167996983 167996983 single base substitution A T intron_variant PACA-AU 1 167997350 167997350 single base substitution T C downstream_gene_variant PACA-AU 1 167997350 167997350 single base substitution T C intron_variant PACA-AU 1 167999658 167999658 single base substitution G A intron_variant PACA-AU 1 168007950 168007950 single base substitution A T intron_variant PACA-AU 1 168007950 168007950 single base substitution A T upstream_gene_variant PACA-AU 1 168010700 168010700 single base substitution T G intron_variant PACA-AU 1 168010700 168010700 single base substitution T G upstream_gene_variant PACA-AU 1 168021190 168021190 single base substitution C G intron_variant PACA-AU 1 168021903 168021903 single base substitution A G intron_variant PACA-AU 1 168024219 168024219 single base substitution T G intron_variant PACA-AU 1 168030095 168030095 single base substitution C T intron_variant PACA-AU 1 168030245 168030245 single base substitution T G intron_variant PACA-AU 1 168030943 168030943 single base substitution T G intron_variant PACA-AU 1 168036732 168036732 single base substitution C T downstream_gene_variant PACA-AU 1 168036732 168036732 single base substitution C T intron_variant PACA-AU 1 168036943 168036943 single base substitution G A downstream_gene_variant PACA-AU 1 168036943 168036943 single base substitution G A intron_variant PACA-AU 1 168037789 168037789 single base substitution A T downstream_gene_variant PACA-AU 1 168037789 168037789 single base substitution A T intron_variant PACA-AU 1 168038825 168038825 single base substitution G A intron_variant PACA-AU 1 168041012 168041012 single base substitution T C intron_variant PACA-CA 1 167901023 167901023 single base substitution T C upstream_gene_variant PACA-CA 1 167902919 167902919 single base substitution A G upstream_gene_variant PACA-CA 1 167903972 167903972 single base substitution A T upstream_gene_variant PACA-CA 1 167920263 167920263 single base substitution C A intron_variant PACA-CA 1 167923980 167923980 single base substitution G A intron_variant PACA-CA 1 167924696 167924696 single base substitution A T intron_variant PACA-CA 1 167926176 167926176 single base substitution T C intron_variant PACA-CA 1 167927354 167927354 single base substitution G T intron_variant PACA-CA 1 167928128 167928128 single base substitution C A intron_variant PACA-CA 1 167934153 167934153 single base substitution C G intron_variant PACA-CA 1 167934153 167934153 single base substitution C G upstream_gene_variant PACA-CA 1 167934640 167934640 single base substitution C T intron_variant PACA-CA 1 167934640 167934640 single base substitution C T upstream_gene_variant PACA-CA 1 167934980 167934980 single base substitution G A intron_variant PACA-CA 1 167934980 167934980 single base substitution G A upstream_gene_variant PACA-CA 1 167937064 167937064 single base substitution G T intron_variant PACA-CA 1 167937064 167937064 single base substitution G T upstream_gene_variant PACA-CA 1 167938288 167938288 single base substitution G T intron_variant PACA-CA 1 167946440 167946440 single base substitution G A intron_variant PACA-CA 1 167949699 167949699 insertion of <=200bp - GGCA intron_variant PACA-CA 1 167950398 167950398 single base substitution G A intron_variant PACA-CA 1 167950527 167950527 single base substitution T G intron_variant PACA-CA 1 167952272 167952272 single base substitution G A intron_variant PACA-CA 1 167955578 167955578 single base substitution A C intron_variant PACA-CA 1 167956607 167956607 single base substitution G A intron_variant PACA-CA 1 167957522 167957522 single base substitution C A downstream_gene_variant PACA-CA 1 167957522 167957522 single base substitution C A intron_variant PACA-CA 1 167958250 167958250 single base substitution G A downstream_gene_variant PACA-CA 1 167958250 167958250 single base substitution G A intron_variant PACA-CA 1 167959063 167959063 single base substitution G A downstream_gene_variant PACA-CA 1 167959063 167959063 single base substitution G A intron_variant PACA-CA 1 167961538 167961538 single base substitution T G downstream_gene_variant PACA-CA 1 167961538 167961538 single base substitution T G intron_variant PACA-CA 1 167964246 167964246 single base substitution C T downstream_gene_variant PACA-CA 1 167964246 167964246 single base substitution C T intron_variant PACA-CA 1 167964378 167964378 single base substitution G C downstream_gene_variant PACA-CA 1 167964378 167964378 single base substitution G C intron_variant PACA-CA 1 167966682 167966682 single base substitution T C downstream_gene_variant PACA-CA 1 167966682 167966682 single base substitution T C intron_variant PACA-CA 1 167969733 167969746 deletion of <=200bp TTGGGTAGTTCTCC - intron_variant PACA-CA 1 167970782 167970782 single base substitution A T intron_variant PACA-CA 1 167972799 167972799 single base substitution G T intron_variant PACA-CA 1 167978639 167978639 single base substitution T C intron_variant PACA-CA 1 167982405 167982405 single base substitution A G intron_variant PACA-CA 1 167982405 167982405 single base substitution A G upstream_gene_variant PACA-CA 1 167985824 167985824 insertion of <=200bp - T intron_variant PACA-CA 1 167988142 167988142 single base substitution G A intron_variant PACA-CA 1 167988153 167988153 single base substitution C A intron_variant PACA-CA 1 167989704 167989704 single base substitution G C downstream_gene_variant PACA-CA 1 167989704 167989704 single base substitution G C intron_variant PACA-CA 1 167989766 167989766 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 167989766 167989766 deletion of <=200bp A - intron_variant PACA-CA 1 167996538 167996538 single base substitution C T downstream_gene_variant PACA-CA 1 167996538 167996538 single base substitution C T intron_variant PACA-CA 1 167998139 167998139 single base substitution C G downstream_gene_variant PACA-CA 1 167998139 167998139 single base substitution C G intron_variant PACA-CA 1 168001786 168001786 single base substitution G A intron_variant PACA-CA 1 168004822 168004822 single base substitution G A intron_variant PACA-CA 1 168005018 168005018 single base substitution A G intron_variant PACA-CA 1 168005287 168005287 single base substitution G T intron_variant PACA-CA 1 168021363 168021363 single base substitution C G intron_variant PACA-CA 1 168027336 168027336 insertion of <=200bp - T intron_variant PACA-CA 1 168032604 168032604 single base substitution C T intron_variant PACA-CA 1 168032834 168032834 deletion of <=200bp T - intron_variant PACA-CA 1 168033200 168033200 deletion of <=200bp A - exon_variant PACA-CA 1 168033200 168033200 deletion of <=200bp A - intron_variant PACA-CA 1 168041683 168041683 single base substitution T C intron_variant PACA-CA 1 168042199 168042199 single base substitution A C intron_variant PACA-CA 1 168043375 168043375 single base substitution G C intron_variant PACA-CA 1 168044781 168044781 single base substitution A T 3_prime_UTR_variant PACA-CA 1 168044781 168044781 single base substitution A T exon_variant PACA-CA 1 168045478 168045478 single base substitution A G downstream_gene_variant PAEN-AU 1 167943034 167943034 single base substitution T G intron_variant PAEN-AU 1 167955807 167955807 single base substitution T A intron_variant PAEN-AU 1 168013633 168013633 single base substitution A G intron_variant PAEN-AU 1 168013633 168013633 single base substitution A G upstream_gene_variant PAEN-IT 1 167931498 167931498 single base substitution T C intron_variant PAEN-IT 1 167971988 167971988 single base substitution G A intron_variant PAEN-IT 1 167991002 167991002 single base substitution T A downstream_gene_variant PAEN-IT 1 167991002 167991002 single base substitution T A intron_variant PAEN-IT 1 168038209 168038209 single base substitution C G intron_variant PBCA-DE 1 167900524 167900524 single base substitution C T upstream_gene_variant PBCA-DE 1 167909001 167909001 insertion of <=200bp - ATAAATAAATAAATAA intron_variant PBCA-DE 1 167913085 167913085 deletion of <=200bp T - intron_variant PBCA-DE 1 167914061 167914061 single base substitution G A intron_variant PBCA-DE 1 167932816 167932816 insertion of <=200bp - TTACAGGTGCC intron_variant PBCA-DE 1 167932816 167932816 insertion of <=200bp - TTACAGGTGCC upstream_gene_variant PBCA-DE 1 167933875 167933875 single base substitution C A intron_variant PBCA-DE 1 167933875 167933875 single base substitution C A upstream_gene_variant PBCA-DE 1 167944008 167944008 single base substitution A C intron_variant PBCA-DE 1 167948566 167948566 insertion of <=200bp - T intron_variant PBCA-DE 1 167951682 167951682 single base substitution C T intron_variant PBCA-DE 1 167954423 167954424 deletion of <=200bp GT - intron_variant PBCA-DE 1 167961491 167961492 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 1 167961491 167961492 deletion of <=200bp AC - intron_variant PBCA-DE 1 167978624 167978624 single base substitution C T intron_variant PBCA-DE 1 167982750 167982750 single base substitution A G intron_variant PBCA-DE 1 167982750 167982750 single base substitution A G upstream_gene_variant PBCA-DE 1 167984820 167984820 single base substitution T A intron_variant PBCA-DE 1 167984820 167984820 single base substitution T A upstream_gene_variant PBCA-DE 1 167988950 167988950 insertion of <=200bp - A exon_variant PBCA-DE 1 167988950 167988950 insertion of <=200bp - A intron_variant PBCA-DE 1 168009726 168009726 deletion of <=200bp A - intron_variant PBCA-DE 1 168009726 168009726 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 168016953 168016954 deletion of <=200bp TA - intron_variant PBCA-DE 1 168034135 168034136 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 1 168034135 168034136 deletion of <=200bp TG - intron_variant PBCA-DE 1 168037522 168037522 single base substitution C T downstream_gene_variant PBCA-DE 1 168037522 168037522 single base substitution C T intron_variant PRAD-CA 1 167912242 167912242 single base substitution T G intron_variant PRAD-CA 1 167919097 167919097 single base substitution T A intron_variant PRAD-CA 1 167919219 167919219 single base substitution A C intron_variant PRAD-CA 1 167954989 167954989 single base substitution A T intron_variant PRAD-CA 1 167974861 167974861 single base substitution T C intron_variant PRAD-CA 1 167978587 167978587 single base substitution T C intron_variant PRAD-CA 1 167978591 167978591 single base substitution T C intron_variant PRAD-CA 1 167978710 167978710 single base substitution C T intron_variant PRAD-CA 1 167989350 167989350 single base substitution A T downstream_gene_variant PRAD-CA 1 167989350 167989350 single base substitution A T intron_variant PRAD-CA 1 168005003 168005003 single base substitution A C intron_variant PRAD-CA 1 168005492 168005492 single base substitution A G intron_variant PRAD-CA 1 168043940 168043940 single base substitution A C intron_variant PRAD-UK 1 167901567 167901567 single base substitution C A upstream_gene_variant PRAD-UK 1 167905572 167905572 single base substitution A C exon_variant PRAD-UK 1 167905572 167905572 single base substitution A C intron_variant PRAD-UK 1 167905572 167905572 single base substitution A C upstream_gene_variant PRAD-UK 1 167913752 167913752 single base substitution A G intron_variant PRAD-UK 1 167935469 167935469 single base substitution T A intron_variant PRAD-UK 1 167935469 167935469 single base substitution T A upstream_gene_variant PRAD-UK 1 167957402 167957402 single base substitution A T downstream_gene_variant PRAD-UK 1 167957402 167957402 single base substitution A T intron_variant PRAD-UK 1 167968623 167968623 single base substitution C T intron_variant PRAD-UK 1 167994818 167994818 single base substitution G C downstream_gene_variant PRAD-UK 1 167994818 167994818 single base substitution G C intron_variant PRAD-UK 1 168004177 168004180 deletion of <=200bp ATTA - intron_variant PRAD-UK 1 168004180 168004180 single base substitution A C intron_variant PRAD-UK 1 168004180 168004180 single base substitution A T intron_variant PRAD-UK 1 168007089 168007090 deletion of <=200bp TG - intron_variant PRAD-UK 1 168007089 168007090 deletion of <=200bp TG - upstream_gene_variant PRAD-UK 1 168018982 168018982 single base substitution C T intron_variant PRAD-UK 1 168027208 168027208 single base substitution A C intron_variant PRAD-UK 1 168032818 168032818 deletion of <=200bp T - intron_variant PRAD-UK 1 168035339 168035339 single base substitution C T downstream_gene_variant PRAD-UK 1 168035339 168035339 single base substitution C T intron_variant PRAD-UK 1 168037791 168037791 single base substitution T A downstream_gene_variant PRAD-UK 1 168037791 168037791 single base substitution T A intron_variant PRAD-UK 1 168047276 168047276 single base substitution A G downstream_gene_variant PRAD-US 1 167973820 167973820 single base substitution T C exon_variant PRAD-US 1 167973820 167973820 single base substitution T C synonymous_variant S358S 1074T>C PRAD-US 1 167973820 167973820 single base substitution T C synonymous_variant S389S 1167T>C READ-US 1 167973179 167973179 single base substitution A C exon_variant READ-US 1 167973179 167973179 single base substitution A C missense_variant S326R 976A>C READ-US 1 167973179 167973179 single base substitution A C missense_variant S357R 1069A>C READ-US 1 167973817 167973817 single base substitution A G exon_variant READ-US 1 167973817 167973817 single base substitution A G synonymous_variant S357S 1071A>G READ-US 1 167973817 167973817 single base substitution A G synonymous_variant S388S 1164A>G READ-US 1 168014265 168014265 single base substitution A C exon_variant READ-US 1 168014265 168014265 single base substitution A C missense_variant E609D 1827A>C READ-US 1 168014265 168014265 single base substitution A C missense_variant E629D 1887A>C READ-US 1 168014265 168014265 single base substitution A C missense_variant E655D 1965A>C READ-US 1 168014265 168014265 single base substitution A C missense_variant E686D 2058A>C READ-US 1 168014265 168014265 single base substitution A C upstream_gene_variant RECA-EU 1 167906842 167906842 single base substitution C T intron_variant RECA-EU 1 167909117 167909117 single base substitution A G intron_variant RECA-EU 1 167943837 167943837 single base substitution C T intron_variant RECA-EU 1 167947596 167947596 single base substitution T C intron_variant RECA-EU 1 167954637 167954637 single base substitution T A intron_variant RECA-EU 1 167963788 167963788 single base substitution A T downstream_gene_variant RECA-EU 1 167963788 167963788 single base substitution A T intron_variant RECA-EU 1 167964898 167964898 single base substitution C T downstream_gene_variant RECA-EU 1 167964898 167964898 single base substitution C T intron_variant RECA-EU 1 167965353 167965353 single base substitution A G downstream_gene_variant RECA-EU 1 167965353 167965353 single base substitution A G intron_variant RECA-EU 1 167965825 167965825 single base substitution A T downstream_gene_variant RECA-EU 1 167965825 167965825 single base substitution A T intron_variant RECA-EU 1 167966109 167966109 single base substitution T A downstream_gene_variant RECA-EU 1 167966109 167966109 single base substitution T A intron_variant RECA-EU 1 167967004 167967004 single base substitution T C downstream_gene_variant RECA-EU 1 167967004 167967004 single base substitution T C intron_variant RECA-EU 1 167968426 167968426 single base substitution A C intron_variant RECA-EU 1 167978620 167978620 single base substitution C T intron_variant RECA-EU 1 167981706 167981706 single base substitution A C intron_variant RECA-EU 1 167981706 167981706 single base substitution A C upstream_gene_variant RECA-EU 1 168011677 168011677 single base substitution A T intron_variant RECA-EU 1 168011677 168011677 single base substitution A T upstream_gene_variant RECA-EU 1 168014352 168014352 single base substitution T C exon_variant RECA-EU 1 168014352 168014352 single base substitution T C synonymous_variant P638P 1914T>C RECA-EU 1 168014352 168014352 single base substitution T C synonymous_variant P658P 1974T>C RECA-EU 1 168014352 168014352 single base substitution T C synonymous_variant P684P 2052T>C RECA-EU 1 168014352 168014352 single base substitution T C synonymous_variant P715P 2145T>C RECA-EU 1 168014354 168014354 single base substitution C A exon_variant RECA-EU 1 168014354 168014354 single base substitution C A stop_gained S639* 1916C>A RECA-EU 1 168014354 168014354 single base substitution C A stop_gained S659* 1976C>A RECA-EU 1 168014354 168014354 single base substitution C A stop_gained S685* 2054C>A RECA-EU 1 168014354 168014354 single base substitution C A stop_gained S716* 2147C>A RECA-EU 1 168017407 168017407 single base substitution A G intron_variant RECA-EU 1 168018672 168018672 single base substitution T G intron_variant RECA-EU 1 168027040 168027040 single base substitution C G intron_variant RECA-EU 1 168030270 168030270 single base substitution C A intron_variant RECA-EU 1 168033258 168033258 single base substitution T G downstream_gene_variant RECA-EU 1 168033258 168033258 single base substitution T G intron_variant RECA-EU 1 168034034 168034034 single base substitution T G downstream_gene_variant RECA-EU 1 168034034 168034034 single base substitution T G intron_variant RECA-EU 1 168036298 168036298 single base substitution T C downstream_gene_variant RECA-EU 1 168036298 168036298 single base substitution T C intron_variant RECA-EU 1 168038054 168038054 single base substitution T A downstream_gene_variant RECA-EU 1 168038054 168038054 single base substitution T A intron_variant RECA-EU 1 168040052 168040052 single base substitution T C intron_variant RECA-EU 1 168042822 168042822 single base substitution G A intron_variant RECA-EU 1 168044952 168044952 single base substitution A C 3_prime_UTR_variant RECA-EU 1 168044952 168044952 single base substitution A C downstream_gene_variant RECA-EU 1 168044952 168044952 single base substitution A C exon_variant SKCA-BR 1 167901868 167901868 single base substitution G A upstream_gene_variant SKCA-BR 1 167902660 167902660 single base substitution C A upstream_gene_variant SKCA-BR 1 167905987 167905987 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 167905987 167905987 single base substitution A G intron_variant SKCA-BR 1 167905987 167905987 single base substitution A G upstream_gene_variant SKCA-BR 1 167910798 167910798 single base substitution T G intron_variant SKCA-BR 1 167912630 167912630 single base substitution T C intron_variant SKCA-BR 1 167913304 167913304 single base substitution T C intron_variant SKCA-BR 1 167913945 167913945 single base substitution C T intron_variant SKCA-BR 1 167913946 167913946 single base substitution C T intron_variant SKCA-BR 1 167917679 167917679 single base substitution G A intron_variant SKCA-BR 1 167924125 167924125 single base substitution C T intron_variant SKCA-BR 1 167924750 167924750 single base substitution C T intron_variant SKCA-BR 1 167926181 167926181 single base substitution A G intron_variant SKCA-BR 1 167928057 167928057 single base substitution C T intron_variant SKCA-BR 1 167932495 167932495 single base substitution C T intron_variant SKCA-BR 1 167932782 167932782 single base substitution G A intron_variant SKCA-BR 1 167932782 167932782 single base substitution G A upstream_gene_variant SKCA-BR 1 167932815 167932815 insertion of <=200bp - ATTACAGGTGCC intron_variant SKCA-BR 1 167932815 167932815 insertion of <=200bp - ATTACAGGTGCC upstream_gene_variant SKCA-BR 1 167933486 167933486 single base substitution C T intron_variant SKCA-BR 1 167933486 167933486 single base substitution C T upstream_gene_variant SKCA-BR 1 167935069 167935069 single base substitution C T intron_variant SKCA-BR 1 167935069 167935069 single base substitution C T upstream_gene_variant SKCA-BR 1 167937321 167937321 single base substitution C T intron_variant SKCA-BR 1 167937321 167937321 single base substitution C T upstream_gene_variant SKCA-BR 1 167937697 167937697 single base substitution C T intron_variant SKCA-BR 1 167937697 167937697 single base substitution C T upstream_gene_variant SKCA-BR 1 167939805 167939805 single base substitution G T intron_variant SKCA-BR 1 167942890 167942890 single base substitution C T intron_variant SKCA-BR 1 167951150 167951150 single base substitution T C intron_variant SKCA-BR 1 167953807 167953807 single base substitution G A intron_variant SKCA-BR 1 167953921 167953921 single base substitution C T intron_variant SKCA-BR 1 167958909 167958909 single base substitution T G downstream_gene_variant SKCA-BR 1 167958909 167958909 single base substitution T G intron_variant SKCA-BR 1 167961522 167961522 single base substitution A C downstream_gene_variant SKCA-BR 1 167961522 167961522 single base substitution A C intron_variant SKCA-BR 1 167962769 167962769 single base substitution C T downstream_gene_variant SKCA-BR 1 167962769 167962769 single base substitution C T intron_variant SKCA-BR 1 167964338 167964338 single base substitution C T downstream_gene_variant SKCA-BR 1 167964338 167964338 single base substitution C T intron_variant SKCA-BR 1 167965390 167965390 single base substitution A T downstream_gene_variant SKCA-BR 1 167965390 167965390 single base substitution A T intron_variant SKCA-BR 1 167965395 167965395 single base substitution C T downstream_gene_variant SKCA-BR 1 167965395 167965395 single base substitution C T intron_variant SKCA-BR 1 167966074 167966074 single base substitution C T downstream_gene_variant SKCA-BR 1 167966074 167966074 single base substitution C T intron_variant SKCA-BR 1 167974469 167974469 single base substitution C T intron_variant SKCA-BR 1 167979765 167979765 single base substitution C T intron_variant SKCA-BR 1 167983825 167983825 single base substitution T C intron_variant SKCA-BR 1 167983825 167983825 single base substitution T C upstream_gene_variant SKCA-BR 1 167983854 167983854 single base substitution T C intron_variant SKCA-BR 1 167983854 167983854 single base substitution T C upstream_gene_variant SKCA-BR 1 167985282 167985282 single base substitution A G intron_variant SKCA-BR 1 167986963 167986963 single base substitution A G intron_variant SKCA-BR 1 167988171 167988171 single base substitution A T intron_variant SKCA-BR 1 167988257 167988257 single base substitution G A intron_variant SKCA-BR 1 167992709 167992709 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 167992709 167992709 single base substitution A G downstream_gene_variant SKCA-BR 1 167992709 167992709 single base substitution A G intron_variant SKCA-BR 1 167993714 167993714 single base substitution A C downstream_gene_variant SKCA-BR 1 167993714 167993714 single base substitution A C intron_variant SKCA-BR 1 167994356 167994356 single base substitution T A downstream_gene_variant SKCA-BR 1 167994356 167994356 single base substitution T A intron_variant SKCA-BR 1 167997233 167997233 single base substitution C T downstream_gene_variant SKCA-BR 1 167997233 167997233 single base substitution C T intron_variant SKCA-BR 1 168002759 168002759 single base substitution G T intron_variant SKCA-BR 1 168003060 168003060 single base substitution C T intron_variant SKCA-BR 1 168006340 168006340 single base substitution C T intron_variant SKCA-BR 1 168006342 168006342 single base substitution C T intron_variant SKCA-BR 1 168006960 168006960 single base substitution C T intron_variant SKCA-BR 1 168011128 168011130 deletion of <=200bp TCG - intron_variant SKCA-BR 1 168011128 168011130 deletion of <=200bp TCG - upstream_gene_variant SKCA-BR 1 168022566 168022566 single base substitution T C intron_variant SKCA-BR 1 168024975 168024975 single base substitution G C intron_variant SKCA-BR 1 168025442 168025442 single base substitution A G intron_variant SKCA-BR 1 168025628 168025628 single base substitution G A intron_variant SKCA-BR 1 168025664 168025664 single base substitution C A intron_variant SKCA-BR 1 168027213 168027213 single base substitution C T intron_variant SKCA-BR 1 168027457 168027457 single base substitution C T intron_variant SKCA-BR 1 168030079 168030079 single base substitution A C intron_variant SKCA-BR 1 168033253 168033254 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 1 168033253 168033254 deletion of <=200bp GT - intron_variant SKCA-BR 1 168033257 168033257 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 1 168033257 168033257 insertion of <=200bp - TG intron_variant SKCA-BR 1 168034354 168034354 single base substitution C T downstream_gene_variant SKCA-BR 1 168034354 168034354 single base substitution C T intron_variant SKCM-US 1 167944107 167944107 single base substitution T G exon_variant SKCM-US 1 167944107 167944107 single base substitution T G missense_variant F67V 199T>G SKCM-US 1 167944107 167944107 single base substitution T G missense_variant F98V 292T>G SKCM-US 1 167960470 167960470 single base substitution C T downstream_gene_variant SKCM-US 1 167960470 167960470 single base substitution C T exon_variant SKCM-US 1 167960470 167960470 single base substitution C T missense_variant A163V 488C>T SKCM-US 1 167960470 167960470 single base substitution C T missense_variant A194V 581C>T SKCM-US 1 167962515 167962515 single base substitution C T downstream_gene_variant SKCM-US 1 167962515 167962515 single base substitution C T exon_variant SKCM-US 1 167962515 167962515 single base substitution C T missense_variant S216F 647C>T SKCM-US 1 167962515 167962515 single base substitution C T missense_variant S247F 740C>T SKCM-US 1 167962533 167962533 single base substitution C T downstream_gene_variant SKCM-US 1 167962533 167962533 single base substitution C T exon_variant SKCM-US 1 167962533 167962533 single base substitution C T missense_variant S222F 665C>T SKCM-US 1 167962533 167962533 single base substitution C T missense_variant S253F 758C>T SKCM-US 1 167962580 167962580 single base substitution C T downstream_gene_variant SKCM-US 1 167962580 167962580 single base substitution C T exon_variant SKCM-US 1 167962580 167962580 single base substitution C T missense_variant L238F 712C>T SKCM-US 1 167962580 167962580 single base substitution C T missense_variant L269F 805C>T SKCM-US 1 167971768 167971768 single base substitution G C exon_variant SKCM-US 1 167971768 167971768 single base substitution G C missense_variant D287H 859G>C SKCM-US 1 167971768 167971768 single base substitution G C missense_variant D318H 952G>C SKCM-US 1 167973186 167973186 single base substitution T C exon_variant SKCM-US 1 167973186 167973186 single base substitution T C missense_variant V328A 983T>C SKCM-US 1 167973186 167973186 single base substitution T C missense_variant V359A 1076T>C SKCM-US 1 167973951 167973951 single base substitution C T exon_variant SKCM-US 1 167973951 167973951 single base substitution C T missense_variant S402F 1205C>T SKCM-US 1 167973951 167973951 single base substitution C T missense_variant S433F 1298C>T SKCM-US 1 168007709 168007709 single base substitution G A synonymous_variant L493L 1479G>A SKCM-US 1 168007709 168007709 single base substitution G A synonymous_variant L513L 1539G>A SKCM-US 1 168007709 168007709 single base substitution G A synonymous_variant L539L 1617G>A SKCM-US 1 168007709 168007709 single base substitution G A synonymous_variant L570L 1710G>A SKCM-US 1 168007709 168007709 single base substitution G A upstream_gene_variant SKCM-US 1 168012370 168012370 single base substitution G A exon_variant SKCM-US 1 168012370 168012370 single base substitution G A missense_variant S535N 1604G>A SKCM-US 1 168012370 168012370 single base substitution G A missense_variant S555N 1664G>A SKCM-US 1 168012370 168012370 single base substitution G A missense_variant S581N 1742G>A SKCM-US 1 168012370 168012370 single base substitution G A missense_variant S612N 1835G>A SKCM-US 1 168012370 168012370 single base substitution G A upstream_gene_variant SKCM-US 1 168014196 168014196 single base substitution C T exon_variant SKCM-US 1 168014196 168014196 single base substitution C T synonymous_variant D586D 1758C>T SKCM-US 1 168014196 168014196 single base substitution C T synonymous_variant D606D 1818C>T SKCM-US 1 168014196 168014196 single base substitution C T synonymous_variant D632D 1896C>T SKCM-US 1 168014196 168014196 single base substitution C T synonymous_variant D663D 1989C>T SKCM-US 1 168014196 168014196 single base substitution C T upstream_gene_variant SKCM-US 1 168014329 168014329 single base substitution T C exon_variant SKCM-US 1 168014329 168014329 single base substitution T C missense_variant F631L 1891T>C SKCM-US 1 168014329 168014329 single base substitution T C missense_variant F651L 1951T>C SKCM-US 1 168014329 168014329 single base substitution T C missense_variant F677L 2029T>C SKCM-US 1 168014329 168014329 single base substitution T C missense_variant F708L 2122T>C SKCM-US 1 168014372 168014372 single base substitution C T exon_variant SKCM-US 1 168014372 168014372 single base substitution C T missense_variant S645F 1934C>T SKCM-US 1 168014372 168014372 single base substitution C T missense_variant S665F 1994C>T SKCM-US 1 168014372 168014372 single base substitution C T missense_variant S691F 2072C>T SKCM-US 1 168014372 168014372 single base substitution C T missense_variant S722F 2165C>T SKCM-US 1 168014418 168014418 single base substitution C T exon_variant SKCM-US 1 168014418 168014418 single base substitution C T synonymous_variant D660D 1980C>T SKCM-US 1 168014418 168014418 single base substitution C T synonymous_variant D680D 2040C>T SKCM-US 1 168014418 168014418 single base substitution C T synonymous_variant D706D 2118C>T SKCM-US 1 168014418 168014418 single base substitution C T synonymous_variant D737D 2211C>T SKCM-US 1 168014467 168014467 single base substitution T C splice_donor_variant SKCM-US 1 168032874 168032874 single base substitution C T exon_variant SKCM-US 1 168032874 168032874 single base substitution C T synonymous_variant A681A 2043C>T SKCM-US 1 168032874 168032874 single base substitution C T synonymous_variant A701A 2103C>T SKCM-US 1 168032874 168032874 single base substitution C T synonymous_variant A741A 2223C>T SKCM-US 1 168032874 168032874 single base substitution C T synonymous_variant A772A 2316C>T SKCM-US 1 168044630 168044630 single base substitution C T exon_variant SKCM-US 1 168044630 168044630 single base substitution C T missense_variant S847L 2540C>T SKCM-US 1 168044630 168044630 single base substitution C T missense_variant S867L 2600C>T SKCM-US 1 168044630 168044630 single base substitution C T missense_variant S907L 2720C>T SKCM-US 1 168044630 168044630 single base substitution C T missense_variant S938L 2813C>T STAD-US 1 167921046 167921046 single base substitution G A exon_variant STAD-US 1 167921046 167921046 single base substitution G A missense_variant E36K 106G>A STAD-US 1 167944108 167944108 single base substitution T C exon_variant STAD-US 1 167944108 167944108 single base substitution T C missense_variant F67S 200T>C STAD-US 1 167944108 167944108 single base substitution T C missense_variant F98S 293T>C STAD-US 1 167962538 167962538 single base substitution A C downstream_gene_variant STAD-US 1 167962538 167962538 single base substitution A C exon_variant STAD-US 1 167962538 167962538 single base substitution A C synonymous_variant R224R 670A>C STAD-US 1 167962538 167962538 single base substitution A C synonymous_variant R255R 763A>C STAD-US 1 167962611 167962611 deletion of <=200bp T - downstream_gene_variant STAD-US 1 167962611 167962611 deletion of <=200bp T - exon_variant STAD-US 1 167962611 167962611 deletion of <=200bp T - frameshift_variant L248 STAD-US 1 167962611 167962611 deletion of <=200bp T - frameshift_variant L279 STAD-US 1 167971724 167971724 single base substitution G A exon_variant STAD-US 1 167971724 167971724 single base substitution G A missense_variant R272Q 815G>A STAD-US 1 167971724 167971724 single base substitution G A missense_variant R303Q 908G>A STAD-US 1 167971802 167971802 single base substitution G A exon_variant STAD-US 1 167971802 167971802 single base substitution G A missense_variant R298Q 893G>A STAD-US 1 167971802 167971802 single base substitution G A missense_variant R329Q 986G>A STAD-US 1 167974018 167974018 single base substitution A G exon_variant STAD-US 1 167974018 167974018 single base substitution A G synonymous_variant T424T 1272A>G STAD-US 1 167974018 167974018 single base substitution A G synonymous_variant T455T 1365A>G STAD-US 1 168037606 168037606 single base substitution G A downstream_gene_variant STAD-US 1 168037606 168037606 single base substitution G A exon_variant STAD-US 1 168037606 168037606 single base substitution G A missense_variant R808Q 2423G>A STAD-US 1 168037606 168037606 single base substitution G A missense_variant R828Q 2483G>A STAD-US 1 168037606 168037606 single base substitution G A missense_variant R868Q 2603G>A STAD-US 1 168037606 168037606 single base substitution G A missense_variant R899Q 2696G>A UCEC-US 1 167921041 167921041 single base substitution G T exon_variant UCEC-US 1 167921041 167921041 single base substitution G T missense_variant R34I 101G>T UCEC-US 1 167921046 167921046 single base substitution G A exon_variant UCEC-US 1 167921046 167921046 single base substitution G A missense_variant E36K 106G>A UCEC-US 1 167956812 167956812 single base substitution T C downstream_gene_variant UCEC-US 1 167956812 167956812 single base substitution T C exon_variant UCEC-US 1 167956812 167956812 single base substitution T C missense_variant I142T 425T>C UCEC-US 1 167956812 167956812 single base substitution T C missense_variant I173T 518T>C UCEC-US 1 167956832 167956832 single base substitution G T downstream_gene_variant UCEC-US 1 167956832 167956832 single base substitution G T exon_variant UCEC-US 1 167956832 167956832 single base substitution G T stop_gained E149* 445G>T UCEC-US 1 167956832 167956832 single base substitution G T stop_gained E180* 538G>T UCEC-US 1 167956836 167956836 single base substitution A G downstream_gene_variant UCEC-US 1 167956836 167956836 single base substitution A G exon_variant UCEC-US 1 167956836 167956836 single base substitution A G missense_variant D150G 449A>G UCEC-US 1 167956836 167956836 single base substitution A G missense_variant D181G 542A>G UCEC-US 1 167962634 167962634 single base substitution G A downstream_gene_variant UCEC-US 1 167962634 167962634 single base substitution G A exon_variant UCEC-US 1 167962634 167962634 single base substitution G A missense_variant A256T 766G>A UCEC-US 1 167962634 167962634 single base substitution G A missense_variant A287T 859G>A UCEC-US 1 167962640 167962640 single base substitution G A downstream_gene_variant UCEC-US 1 167962640 167962640 single base substitution G A exon_variant UCEC-US 1 167962640 167962640 single base substitution G A missense_variant E258K 772G>A UCEC-US 1 167962640 167962640 single base substitution G A missense_variant E289K 865G>A UCEC-US 1 167973219 167973219 single base substitution G A exon_variant UCEC-US 1 167973219 167973219 single base substitution G A missense_variant R339Q 1016G>A UCEC-US 1 167973219 167973219 single base substitution G A missense_variant R370Q 1109G>A UCEC-US 1 167973771 167973771 single base substitution G A missense_variant G342D 1025G>A UCEC-US 1 167973771 167973771 single base substitution G A missense_variant G373D 1118G>A UCEC-US 1 167973771 167973771 single base substitution G A splice_region_variant UCEC-US 1 167973894 167973894 single base substitution C T exon_variant UCEC-US 1 167973894 167973894 single base substitution C T missense_variant S383F 1148C>T UCEC-US 1 167973894 167973894 single base substitution C T missense_variant S414F 1241C>T UCEC-US 1 168007704 168007704 single base substitution A T stop_gained K492* 1474A>T UCEC-US 1 168007704 168007704 single base substitution A T stop_gained K512* 1534A>T UCEC-US 1 168007704 168007704 single base substitution A T stop_gained K538* 1612A>T UCEC-US 1 168007704 168007704 single base substitution A T stop_gained K569* 1705A>T UCEC-US 1 168007704 168007704 single base substitution A T upstream_gene_variant UCEC-US 1 168012310 168012310 single base substitution C G exon_variant UCEC-US 1 168012310 168012310 single base substitution C G missense_variant S515C 1544C>G UCEC-US 1 168012310 168012310 single base substitution C G missense_variant S535C 1604C>G UCEC-US 1 168012310 168012310 single base substitution C G missense_variant S561C 1682C>G UCEC-US 1 168012310 168012310 single base substitution C G missense_variant S592C 1775C>G UCEC-US 1 168012310 168012310 single base substitution C G upstream_gene_variant UCEC-US 1 168014287 168014287 single base substitution G A exon_variant UCEC-US 1 168014287 168014287 single base substitution G A missense_variant E617K 1849G>A UCEC-US 1 168014287 168014287 single base substitution G A missense_variant E637K 1909G>A UCEC-US 1 168014287 168014287 single base substitution G A missense_variant E663K 1987G>A UCEC-US 1 168014287 168014287 single base substitution G A missense_variant E694K 2080G>A UCEC-US 1 168014287 168014287 single base substitution G A upstream_gene_variant UCEC-US 1 168032914 168032914 single base substitution G T exon_variant UCEC-US 1 168032914 168032914 single base substitution G T stop_gained E695* 2083G>T UCEC-US 1 168032914 168032914 single base substitution G T stop_gained E715* 2143G>T UCEC-US 1 168032914 168032914 single base substitution G T stop_gained E755* 2263G>T UCEC-US 1 168032914 168032914 single base substitution G T stop_gained E786* 2356G>T UCEC-US 1 168032976 168032976 single base substitution C T exon_variant UCEC-US 1 168032976 168032976 single base substitution C T synonymous_variant G715G 2145C>T UCEC-US 1 168032976 168032976 single base substitution C T synonymous_variant G735G 2205C>T UCEC-US 1 168032976 168032976 single base substitution C T synonymous_variant G775G 2325C>T UCEC-US 1 168032976 168032976 single base substitution C T synonymous_variant G806G 2418C>T UCEC-US 1 168032981 168032981 single base substitution G A exon_variant UCEC-US 1 168032981 168032981 single base substitution G A missense_variant R717H 2150G>A UCEC-US 1 168032981 168032981 single base substitution G A missense_variant R737H 2210G>A UCEC-US 1 168032981 168032981 single base substitution G A missense_variant R777H 2330G>A UCEC-US 1 168032981 168032981 single base substitution G A missense_variant R808H 2423G>A UCEC-US 1 168035686 168035686 single base substitution C T downstream_gene_variant UCEC-US 1 168035686 168035686 single base substitution C T exon_variant UCEC-US 1 168035686 168035686 single base substitution C T stop_gained R799* 2395C>T UCEC-US 1 168035686 168035686 single base substitution C T stop_gained R819* 2455C>T UCEC-US 1 168035686 168035686 single base substitution C T stop_gained R859* 2575C>T UCEC-US 1 168035686 168035686 single base substitution C T stop_gained R890* 2668C>T UCEC-US 1 168035689 168035689 single base substitution A G downstream_gene_variant UCEC-US 1 168035689 168035689 single base substitution A G exon_variant UCEC-US 1 168035689 168035689 single base substitution A G missense_variant K800E 2398A>G UCEC-US 1 168035689 168035689 single base substitution A G missense_variant K820E 2458A>G UCEC-US 1 168035689 168035689 single base substitution A G missense_variant K860E 2578A>G UCEC-US 1 168035689 168035689 single base substitution A G missense_variant K891E 2671A>G UCEC-US 1 168037605 168037605 single base substitution C T downstream_gene_variant UCEC-US 1 168037605 168037605 single base substitution C T exon_variant UCEC-US 1 168037605 168037605 single base substitution C T stop_gained R808* 2422C>T UCEC-US 1 168037605 168037605 single base substitution C T stop_gained R828* 2482C>T UCEC-US 1 168037605 168037605 single base substitution C T stop_gained R868* 2602C>T UCEC-US 1 168037605 168037605 single base substitution C T stop_gained R899* 2695C>T UCEC-US 1 168037606 168037606 single base substitution G A downstream_gene_variant UCEC-US 1 168037606 168037606 single base substitution G A exon_variant UCEC-US 1 168037606 168037606 single base substitution G A missense_variant R808Q 2423G>A UCEC-US 1 168037606 168037606 single base substitution G A missense_variant R828Q 2483G>A UCEC-US 1 168037606 168037606 single base substitution G A missense_variant R868Q 2603G>A UCEC-US 1 168037606 168037606 single base substitution G A missense_variant R899Q 2696G>A UCEC-US 1 168037681 168037681 single base substitution C T downstream_gene_variant UCEC-US 1 168037681 168037681 single base substitution C T exon_variant UCEC-US 1 168037681 168037681 single base substitution C T missense_variant S833L 2498C>T UCEC-US 1 168037681 168037681 single base substitution C T missense_variant S853L 2558C>T UCEC-US 1 168037681 168037681 single base substitution C T missense_variant S893L 2678C>T UCEC-US 1 168037681 168037681 single base substitution C T missense_variant S924L 2771C>T UCEC-US 1 168044653 168044653 single base substitution G T exon_variant UCEC-US 1 168044653 168044653 single base substitution G T stop_gained E855* 2563G>T UCEC-US 1 168044653 168044653 single base substitution G T stop_gained E875* 2623G>T UCEC-US 1 168044653 168044653 single base substitution G T stop_gained E915* 2743G>T UCEC-US 1 168044653 168044653 single base substitution G T stop_gained E946* 2836G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-117 COSM1249746 c.2196_2198delTTA p.Y733delY Deletion - In frame 1:168063729-168063731 + CHC1629T COSM4791935 c.2598A>C p.R866S Substitution - Missense 1:168075390-168075390 + TCGA-EE-A2GO-06 COSM3477876 c.2040C>T p.D680D Substitution - coding silent 1:168045180-168045180 + GC_370T-GC_370N COSM4772912 c.1764A>G p.Q588Q Substitution - coding silent 1:168044904-168044904 + TCGA-FS-A1ZP-06 COSM3477860 c.740C>T p.S247F Substitution - Missense 1:167993277-167993277 + 07-P8041 COSM4576543 c.21C>T p.Y7Y Substitution - coding silent 1:167936932-167936932 + PD14460a COSM5780500 c.2413A>G p.I805V Substitution - Missense 1:168066406-168066406 + TCGA-G2-A3VY-01 COSM3789058 c.2467G>C p.D823H Substitution - Missense 1:168066460-168066460 + LC_C15 COSM1185636 c.632G>T p.C211F Substitution - Missense 1:167991283-167991283 + TCGA-B5-A11N-01 COSM899149 c.1534A>T p.K512* Substitution - Nonsense 1:168038466-168038466 + A549 COSM1193349 c.1088A>G p.N363S Substitution - Missense 1:168003960-168003960 + Detroit_562 COSM4142998 c.90A>C p.R30R Substitution - coding silent TCGA-EE-A3AE-06 COSM3477880 c.2103C>T p.A701A Substitution - coding silent 1:168063636-168063636 + LC_S6 COSM1190698 c.1599delC p.C533fs*1 Deletion - Frameshift 1:168043067-168043067 + 2492725 COSM5724605 c.2475T>C p.V825V Substitution - coding silent 1:168068360-168068360 + S02273 COSM5681433 c.452C>G p.P151R Substitution - Missense 1:167987508-167987508 + T2269 COSM366981 c.268C>T p.R90C Substitution - Missense 1:167974845-167974845 + TCGA-FR-A3YO-06 COSM3477872 c.1951T>C p.F651L Substitution - Missense 1:168045091-168045091 + ESO-0053 COSM1249747 c.324T>C p.D108D Substitution - coding silent 1:167974901-167974901 + YUKAT COSM5378337 c.878C>T p.P293L Substitution - Missense 1:167993415-167993415 + 385 COSM4426846 c.574C>T p.R192C Substitution - Missense 1:167991225-167991225 + TCGA-FD-A3SL-01 COSM3789056 c.128T>G p.L43R Substitution - Missense 1:167951830-167951830 + TCGA-A8-A09Z-01 COSM3802740 c.1189A>G p.T397A Substitution - Missense 1:168004604-168004604 + TCGA-BC-A10U-01 COSM4942450 c.1942G>C p.E648Q Substitution - Missense 1:168045082-168045082 + PT15_1 COSM5897268 c.1303C>T p.P435S Substitution - Missense 1:168004718-168004718 + TCGA-AX-A0J1-01 COSM899144 c.859G>A p.A287T Substitution - Missense 1:167993396-167993396 + TCGA-GV-A3QI-01 COSM1295432 c.700G>A p.G234S Substitution - Missense 1:167993237-167993237 + 98687 COSM325122 c.1325G>A p.S442N Substitution - Missense 1:168004740-168004740 + CSCC-49-T COSM4511700 c.877C>T p.P293S Substitution - Missense 1:167993414-167993414 + C0050T COSM4422604 c.1974T>C p.P658P Substitution - coding silent 1:168045114-168045114 + Pat_59_A COSM5844416 c.37G>A p.D13N Substitution - Missense 1:167936948-167936948 + 24 COSM4777614 c.2437G>T p.E813* Substitution - Nonsense 1:168066430-168066430 + 19 COSM5745747 c.169A>G p.I57V Substitution - Missense 1:167966638-167966638 + B56-Tumor COSM1756839 c.253-2A>C p.? Unknown 1:167974828-167974828 + BD184T COSM5517579 c.2155T>C p.L719L Substitution - coding silent 1:168063688-168063688 + TCGA-C4-A0F1-01 COSM414347 c.2338G>C p.D780H Substitution - Missense 1:168065701-168065701 + Br27P COSM40203 c.1904G>A p.S635N Substitution - Missense 1:168045044-168045044 + TCGA-ER-A199-06 COSM3477870 c.1664G>A p.S555N Substitution - Missense 1:168043132-168043132 + TCGA-A3-3358-01 COSM463349 c.587C>A p.S196Y Substitution - Missense 1:167991238-167991238 + TCGA-F5-6814-01 COSM3418288 c.1069A>C p.S357R Substitution - Missense 1:168003941-168003941 + PD4955a COSM5795799 c.1760-5G>C p.? Unknown 1:168044895-168044895 + 400 COSM4429356 c.411T>C p.F137F Substitution - coding silent 1:167974988-167974988 + PTC-28C COSM4142998 c.90A>C p.R30R Substitution - coding silent 12T COSM106303 c.1678C>T p.P560S Substitution - Missense 1:168044590-168044590 + TCGA-AP-A0LM-01 COSM899148 c.1241C>T p.S414F Substitution - Missense 1:168004656-168004656 + YUDEXA COSM1689117 c.287A>G p.N96S Substitution - Missense 1:167974864-167974864 + TCGA-BR-4257-01 COSM4024846 c.986G>A p.R329Q Substitution - Missense 1:168002564-168002564 + LUAD-YINHD COSM349842 c.2499G>T p.L833L Substitution - coding silent 1:168068384-168068384 + TCGA-FC-7708-01 COSM1470170 c.1167T>C p.S389S Substitution - coding silent 1:168004582-168004582 + TCGA-D1-A17D-01 COSM899159 c.2558C>T p.S853L Substitution - Missense 1:168068443-168068443 + TCGA-B5-A0JR-01 COSM899155 c.2210G>A p.R737H Substitution - Missense 1:168063743-168063743 + CHC1629T COSM4791935 c.2598A>C p.R866S Substitution - Missense 1:168075390-168075390 + TCGA-DK-A3IK-01 COSM1295433 c.1005G>C p.Q335H Substitution - Missense 1:168003877-168003877 + TCGA-D3-A3MR-06 COSM3477862 c.805C>T p.L269F Substitution - Missense 1:167993342-167993342 + 94 COSM5014163 c.2320T>G p.L774V Substitution - Missense 1:168065683-168065683 + TCGA-C8-A274-01 COSM1472943 c.2322G>A p.L774L Substitution - coding silent 1:168065685-168065685 + TCGA-AP-A059-01 COSM899147 c.1118G>A p.G373D Substitution - Missense 1:168004533-168004533 + RMS105_ COSM4986116 c.1249A>G p.M417V Substitution - Missense 1:168004664-168004664 + RK180_C01 COSM1626606 c.1831C>T p.R611C Substitution - Missense 1:168044971-168044971 + C0050T COSM4422602 c.1976C>A p.S659* Substitution - Nonsense 1:168045116-168045116 + PD4000a COSM166025 c.323_324insT p.K109fs*1 Insertion - Frameshift 1:167974900-167974901 + TCGA-66-2785-01 COSM677308 c.812G>A p.S271N Substitution - Missense 1:167993349-167993349 + TCGA-BR-8380-01 COSM4024848 c.1365A>G p.T455T Substitution - coding silent 1:168004780-168004780 + U2940 COSM5620626 c.283G>A p.A95T Substitution - Missense 1:167974860-167974860 + LS411 COSM2185972 c.697G>A p.A233T Substitution - Missense 1:167993234-167993234 + TCGA-D1-A17Q-01 COSM899143 c.542A>G p.D181G Substitution - Missense 1:167987598-167987598 + TCGA-EE-A29B-06 COSM3477866 c.1298C>T p.S433F Substitution - Missense 1:168004713-168004713 + HT55 COSM2185982 c.1001A>G p.E334G Substitution - Missense 1:168003873-168003873 + 587376 COSM1203073 c.119G>T p.R40I Substitution - Missense 1:167951821-167951821 + 587342 COSM1203072 c.1738G>A p.V580I Substitution - Missense 1:168044650-168044650 + TCGA-D9-A6EC-06 COSM4405947 c.1076T>C p.V359A Substitution - Missense 1:168003948-168003948 + PD24182a COSM5790886 c.1759+4A>T p.? Unknown 1:168044675-168044675 + TCGA-AR-A2LE-01 COSM3802747 c.2587G>T p.E863* Substitution - Nonsense 1:168075379-168075379 + A549 COSM1193349 c.1088A>G p.N363S Substitution - Missense 1:168003960-168003960 + TCGA-FW-A3R5-06 COSM3863446 c.1818C>T p.D606D Substitution - coding silent 1:168044958-168044958 + YUZINO COSM1689118 c.1514G>A p.G505E Substitution - Missense 1:168038446-168038446 + 71 COSM5744428 c.1546A>G p.T516A Substitution - Missense 1:168038478-168038478 + 381LT COSM4381499 c.493A>G p.T165A Substitution - Missense 1:167987549-167987549 + TCGA-A3-3349-01 COSM463351 c.2352A>T p.V784V Substitution - coding silent 1:168065715-168065715 + TCGA-ER-A3ET-06 COSM3477864 c.952G>C p.D318H Substitution - Missense 1:168002530-168002530 + KU-9T COSM3750561 c.1700T>C p.V567A Substitution - Missense 1:168044612-168044612 + TCGA-AA-A00N-01 COSM274740 c.661C>T p.R221W Substitution - Missense 1:167991312-167991312 + OSCC-GB_00070111 COSM3710409 c.1691C>T p.S564L Substitution - Missense 1:168044603-168044603 + T3446 COSM4676383 c.264A>G p.T88T Substitution - coding silent 1:167974841-167974841 + TCGA-ER-A193-06 COSM3477856 c.292T>G p.F98V Substitution - Missense 1:167974869-167974869 + TCGA-25-1630-01 COSM77903 c.2224A>G p.M742V Substitution - Missense 1:168063757-168063757 + PT36 COSM5914604 c.160-6C>T p.? Unknown 1:167966623-167966623 + T40 COSM5341719 c.1557-7A>G p.? Unknown 1:168043018-168043018 + sysucc-311T COSM5477775 c.294T>C p.F98F Substitution - coding silent 1:167974871-167974871 + HCC147T COSM5811573 c.790G>T p.D264Y Substitution - Missense 1:167993327-167993327 + PT25 COSM3750561 c.1700T>C p.V567A Substitution - Missense 1:168044612-168044612 + TCGA-DK-A2I6-01 COSM1295431 c.84G>A p.R28R Substitution - coding silent 1:167936995-167936995 + C086 COSM274740 c.661C>T p.R221W Substitution - Missense 1:167991312-167991312 + TCGA-BR-8680-01 COSM207657 c.2483G>A p.R828Q Substitution - Missense 1:168068368-168068368 + TCGA-AX-A0J0-01 COSM899142 c.538G>T p.E180* Substitution - Nonsense 1:167987594-167987594 + 2173_T COSM3976469 c.1438G>T p.D480Y Substitution - Missense 1:168023047-168023047 + 587284 COSM1203071 c.728G>A p.R243H Substitution - Missense 1:167993265-167993265 + LS411 COSM1203071 c.728G>A p.R243H Substitution - Missense 1:167993265-167993265 + 587222 COSM1203069 c.1811G>A p.R604K Substitution - Missense 1:168044951-168044951 + tumor_4147968 COSM5946829 c.2456G>A p.R819Q Substitution - Missense 1:168066449-168066449 + HCC058T COSM5804945 c.1504A>T p.S502C Substitution - Missense 1:168038436-168038436 + CSCC-20-T COSM1626606 c.1831C>T p.R611C Substitution - Missense 1:168044971-168044971 + 468 COSM4437404 c.2005T>C p.S669P Substitution - Missense 1:168045145-168045145 + 587376 COSM1203074 c.1972C>T p.P658S Substitution - Missense 1:168045112-168045112 + TCGA-B5-A0JY-01 COSM899139 c.106G>A p.E36K Substitution - Missense 1:167951808-167951808 + TCGA-AB-2810-03 COSM1317629 c.655T>C p.Y219H Substitution - Missense 1:167991306-167991306 + TCGA-BS-A0UF-01 COSM899156 c.2455C>T p.R819* Substitution - Nonsense 1:168066448-168066448 + ACINAR13 COSM1733539 c.1702A>C p.T568P Substitution - Missense 1:168044614-168044614 + TCGA-BR-8680-01 COSM899139 c.106G>A p.E36K Substitution - Missense 1:167951808-167951808 + TCGA-DB-A64Q-01 COSM3966001 c.447T>C p.T149T Substitution - coding silent 1:167987503-167987503 + PA285 COSM1162852 c.1287A>G p.E429E Substitution - coding silent 1:168004702-168004702 + TCGA-BR-A4CQ-01 COSM4024840 c.293T>C p.F98S Substitution - Missense 1:167974870-167974870 + TCGA-AX-A0J0-01 COSM899153 c.2143G>T p.E715* Substitution - Nonsense 1:168063676-168063676 + TCGA-AP-A0LF-01 COSM899150 c.1604C>G p.S535C Substitution - Missense 1:168043072-168043072 + BD120T COSM5514603 c.1486G>A p.V496I Substitution - Missense 1:168038418-168038418 + SS6003109 COSM4127595 c.484G>A p.E162K Substitution - Missense 1:167987540-167987540 + PD4955a COSM5795801 c.1811G>C p.R604T Substitution - Missense 1:168044951-168044951 + LUAD-F00282 COSM366981 c.268C>T p.R90C Substitution - Missense 1:167974845-167974845 + TCGA-AA-A010-01 COSM280307 c.1117+2T>C p.? Unknown 1:168003991-168003991 + TCGA-B5-A0JY-01 COSM899138 c.101G>T p.R34I Substitution - Missense 1:167951803-167951803 + STC246 COSM5052783 c.1326T>C p.S442S Substitution - coding silent 1:168004741-168004741 + HCA46 COSM2186013 c.2223A>G p.T741T Substitution - coding silent 1:168063756-168063756 + TCGA-F5-6814-01 COSM3418290 c.1164A>G p.S388S Substitution - coding silent 1:168004579-168004579 + TCGA-G7-7501-01 COSM3984442 c.808G>A p.V270I Substitution - Missense 1:167993345-167993345 + TCGA-33-4566-01 COSM677307 c.1672+2T>A p.? Unknown 1:168043142-168043142 + Pat_66_A COSM5844418 c.2581C>T p.R861W Substitution - Missense 1:168075373-168075373 + PD4955a COSM5785130 c.1828G>C p.D610H Substitution - Missense 1:168044968-168044968 + 587350 COSM1203070 c.572G>A p.R191Q Substitution - Missense 1:167991223-167991223 + T3064 COSM1472942 c.2180C>T p.P727L Substitution - Missense 1:168063713-168063713 + TCGA-EE-A2GP-06 COSM3477858 c.581C>T p.A194V Substitution - Missense 1:167991232-167991232 + 7T COSM3710409 c.1691C>T p.S564L Substitution - Missense 1:168044603-168044603 + TCGA-DK-A1AB-01 COSM414348 c.1899G>A p.Q633Q Substitution - coding silent 1:168045039-168045039 + HN_62601 COSM122508 c.1007G>A p.S336N Substitution - Missense 1:168003879-168003879 + TCGA-D8-A27V-01 COSM3802744 c.2244C>T p.F748F Substitution - coding silent 1:168065607-168065607 + ESO-717 COSM1242176 c.1261G>T p.A421S Substitution - Missense 1:168004676-168004676 + 3N26-VS-3T26 COSM4980057 c.1177G>C p.E393Q Substitution - Missense 1:168004592-168004592 + TCGA-B5-A11R-01 COSM899151 c.1909G>A p.E637K Substitution - Missense 1:168045049-168045049 + HCC36T COSM1601192 c.116A>T p.Q39L Substitution - Missense 1:167951818-167951818 + RKO COSM2185987 c.1117G>T p.G373C Substitution - Missense 1:168003989-168003989 + TCGA-EE-A2MS-06 COSM3477882 c.2600C>T p.S867L Substitution - Missense 1:168075392-168075392 + TCGA-AG-A002-01 COSM260365 c.865G>T p.E289* Substitution - Nonsense 1:167993402-167993402 + TCGA-CM-6163-01 COSM1336027 c.1894G>C p.D632H Substitution - Missense 1:168045034-168045034 + ME009T COSM222585 c.451C>T p.P151S Substitution - Missense 1:167987507-167987507 + TCGA-D1-A17Q-01 COSM899158 c.2482C>T p.R828* Substitution - Nonsense 1:168068367-168068367 + HCC36 COSM1601192 c.116A>T p.Q39L Substitution - Missense 1:167951818-167951818 + TCGA-F5-6814-01 COSM3418292 c.1887A>C p.E629D Substitution - Missense 1:168045027-168045027 + 2492726 COSM5724605 c.2475T>C p.V825V Substitution - coding silent 1:168068360-168068360 + 394 COSM3721415 c.726C>T p.A242A Substitution - coding silent 1:167993263-167993263 + PT36 COSM5914602 c.1277C>T p.S426F Substitution - Missense 1:168004692-168004692 + 3N64-VS-3T64 COSM4984632 c.1033A>T p.M345L Substitution - Missense 1:168003905-168003905 + TCGA-D8-A1JH-01 COSM1472941 c.190G>A p.E64K Substitution - Missense 1:167966659-167966659 + TCGA-DK-A1AD-01 COSM1295434 c.1547C>T p.T516I Substitution - Missense 1:168038479-168038479 + TCGA-E2-A1L6-01 COSM1472942 c.2180C>T p.P727L Substitution - Missense 1:168063713-168063713 + LUAD-S01467 COSM399396 c.2104C>T p.R702C Substitution - Missense 1:168063637-168063637 + LUAD-CHTN-3090346 COSM356642 c.957T>C p.T319T Substitution - coding silent 1:168002535-168002535 + TCGA-B5-A0K9-01 COSM899152 c.2071G>T p.A691S Substitution - Missense 1:168045211-168045211 + TCGA-EE-A2MR-06 COSM3477874 c.1994C>T p.S665F Substitution - Missense 1:168045134-168045134 + TCGA-EP-A26S-01 COSM4913672 c.956C>T p.T319I Substitution - Missense 1:168002534-168002534 + TCGA-EA-A3QD-01 COSM4821737 c.1549G>A p.D517N Substitution - Missense 1:168038481-168038481 + TCGA-EE-A29B-06 COSM3477868 c.1539G>A p.L513L Substitution - coding silent 1:168038471-168038471 + CSCC-44-T COSM4502338 c.610C>T p.P204S Substitution - Missense 1:167991261-167991261 + TCGA-D8-A1JA-01 COSM3802742 c.1258C>G p.Q420E Substitution - Missense 1:168004673-168004673 + TCGA-ER-A19W-06 COSM4398700 c.758C>T p.S253F Substitution - Missense 1:167993295-167993295 + HDC82 COSM4636574 c.1541A>G p.N514S Substitution - Missense 1:168038473-168038473 + TCGA-AM-5820-01 COSM3750561 c.1700T>C p.V567A Substitution - Missense 1:168044612-168044612 + PTC-7C COSM4142998 c.90A>C p.R30R Substitution - coding silent TCGA-AP-A056-01 COSM899145 c.865G>A p.E289K Substitution - Missense 1:167993402-167993402 + TCGA-AR-A24L-01 COSM1472944 c.2641T>A p.*881K Nonstop extension 1:168075433-168075433 + TCGA-B8-5163-01 COSM463350 c.1350A>G p.A450A Substitution - coding silent 1:168004765-168004765 + PD4842a COSM160339 c.1448A>T p.N483I Substitution - Missense 1:168038380-168038380 + T14 COSM5341721 c.2336C>T p.A779V Substitution - Missense 1:168065699-168065699 + TCGA-AD-6895-01 COSM1336023 c.245G>A p.S82N Substitution - Missense 1:167966714-167966714 + TCGA-BR-8487-01 COSM4024844 c.908G>A p.R303Q Substitution - Missense 1:168002486-168002486 + TCGA-BR-8078-01 COSM4024842 c.763A>C p.R255R Substitution - coding silent 1:167993300-167993300 + PD24215a COSM5796655 c.1419G>A p.M473I Substitution - Missense 1:168023028-168023028 + TCGA-BH-A18G-01 COSM3802738 c.584C>T p.T195M Substitution - Missense 1:167991235-167991235 + TCGA-BS-A0UL-01 COSM899146 c.1109G>A p.R370Q Substitution - Missense 1:168003981-168003981 + TCGA-D1-A16X-01 COSM899141 c.518T>C p.I173T Substitution - Missense 1:167987574-167987574 + ESO-683 COSM1249748 c.317C>T p.T106I Substitution - Missense 1:167974894-167974894 + PT33 COSM5907875 c.1415C>T p.S472F Substitution - Missense 1:168023024-168023024 + TCGA-D1-A0ZS-01 COSM899140 c.515G>A p.R172H Substitution - Missense 1:167987571-167987571 + TCGA-AP-A056-01 COSM899160 c.2623G>T p.E875* Substitution - Nonsense 1:168075415-168075415 + TCGA-AN-A046-01 COSM174721 c.2488G>A p.E830K Substitution - Missense 1:168068373-168068373 + 2492724 COSM5724605 c.2475T>C p.V825V Substitution - coding silent 1:168068360-168068360 + B56 COSM1756839 c.253-2A>C p.? Unknown 1:167974828-167974828 + TCGA-CM-6677-01 COSM1336030 c.1985A>C p.E662A Substitution - Missense 1:168045125-168045125 + CSCC-27-T COSM4468781 c.1391C>T p.S464F Substitution - Missense 1:168023000-168023000 + TCGA-AD-6889-01 COSM1336026 c.1717G>T p.G573* Substitution - Nonsense 1:168044629-168044629 + TCGA-BS-A0UJ-01 COSM899157 c.2458A>G p.K820E Substitution - Missense 1:168066451-168066451 + TCGA-FS-A1ZQ-06 COSM3477878 c.2087+2T>C p.? Unknown 1:168045229-168045229 + TCGA-C5-A1MK-01 COSM4827067 c.1244C>T p.S415F Substitution - Missense 1:168004659-168004659 + TCGA-D1-A17Q-01 COSM207657 c.2483G>A p.R828Q Substitution - Missense 1:168068368-168068368 + TCGA-AP-A051-01 COSM899154 c.2205C>T p.G735G Substitution - coding silent 1:168063738-168063738 + TCGA-56-6546-01 COSM677306 c.2564A>G p.N855S Substitution - Missense 1:168068449-168068449 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.435736;Hs.435741 1q24.2 610494 2391621|CGAP|BC025262|C/T|non-coding||1664|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.M813V c.2437A>G 1 168032995 OV A G Missense p.N926S c.2777A>G 1 168037687 LUSC A G Missense p.S692G c.2074A>G 1 168014281 LUAD A G Synonymous p.A450A c.1350A>G 1 167974003 RCCC A G Synonymous p.E675E c.2025A>G 1 168014232 LUAD A T Missense p.E449V c.1346A>T 1 167973999 HNSC A T Missense p.N540I c.1619A>T 1 168007618 BRCA A T Synonymous p.G365G c.1095A>T 1 167973205 LUAD A T Synonymous p.V855V c.2565A>T 1 168034953 RCCC C A Missense p.Q690K c.2068C>A 1 168014275 LUAD C G Missense p.S592C c.1775C>G 1 168012310 UCEC CTCTCTCTT - IntronicDeletion . c.1378+4614_1378+4622delCTCTCTCTT 1 167978645 CLL C T IntronicSNV . c.2300+5325C>T 1 168025496 CM C T Missense p.A194V c.581C>T 1 167960470 CM C T Missense p.L269F c.805C>T 1 167962580 CM C T Missense p.P151S c.451C>T 1 167956745 CM C T Missense p.P798L c.2393C>T 1 168032951 BRCA C T Missense p.S247F c.740C>T 1 167962515 CM C T Missense p.S433F c.1298C>T 1 167973951 CM C T Missense p.S678L c.2033C>T 1 168014240 HNSC C T Missense p.S924L c.2771C>T 1 168037681 UCEC C T Missense p.S938L c.2813C>T 1 168044630 CM C T Missense p.T106I c.317C>T 1 167944132 ESCA C T Missense p.T573I c.1718C>T 1 168007717 BLCA C T Synonymous p.A772A c.2316C>T 1 168032874 CM C T Synonymous p.D737D c.2211C>T 1 168014418 CM C T Synonymous p.L543L c.1627C>T 1 168007626 HNSC C T Synonymous p.L902L c.2706C>T 1 168037616 HNSC G A IntronicSNV . c.2300+5055G>A 1 168025226 CM G A Missense p.D170N c.508G>A 1 167956802 LUAD G A Missense p.D725N c.2173G>A 1 168014380 HNSC G A Missense p.E64K c.190G>A 1 167935897 BRCA G A Missense p.E694K c.2080G>A 1 168014287 UCEC G A Missense p.G234S c.700G>A 1 167962475 BLCA G A Missense p.R222Q c.665G>A 1 167960554 LUAD G A Missense p.R329Q c.986G>A 1 167971802 HNSC G A Missense p.R329Q c.986G>A 1 167971802 STAD G A Missense p.R370Q c.1109G>A 1 167973219 UCEC G A Missense p.R808H c.2423G>A 1 168032981 UCEC G A Missense p.S336N c.1007G>A 1 167973117 HNSC G A Missense p.S442N c.1325G>A 1 167973978 SCLC G A Missense p.S612N c.1835G>A 1 168012370 CM G A Synonymous p.L570L c.1710G>A 1 168007709 CM G A Synonymous p.L845L c.2535G>A 1 168034923 BRCA G A Synonymous p.Q690Q c.2070G>A 1 168014277 BLCA G A Synonymous p.R28R c.84G>A 1 167906233 BLCA G C Missense p.D318H c.952G>C 1 167971768 CM G C Missense p.D851H c.2551G>C 1 168034939 BLCA G C Missense p.Q110H c.330G>C 1 167944145 LUAD G C Missense p.Q335H c.1005G>C 1 167973115 BLCA G C Missense p.Q458H c.1374G>C 1 167974027 LUAD T A 3-UTRSNV . c.2853+1T>A 1 168044671 BRCA T A IntronicSNV . c.2300+5119T>A 1 168025290 CM T C IntronicSNV . c.2300+5288T>C 1 168025459 CM T C Missense p.L19P c.56T>C 1 167906205 HNSC T C Missense p.Y219H c.655T>C 1 167960544 AML T C SpliceDonorSNV . c.2258+2T>C 1 168014467 CM T C Synonymous p.D108D c.324T>C 1 167944139 ESCA T C Synonymous p.S389S c.1167T>C 1 167973820 PRAD - T Frameshift p.K109Ifs*18 c.325_326insT 1 167944140 BRCA T G Missense p.F98V c.292T>G 1 167944107 CM TTA - InFrameDeletion p.Y804delY c.2410_2412delTAT 1 168032967 ESCA