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 2 200136952 200136952 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr2:200136952G>A c.2184C>T c.(2182-2184)gcC>gcT p.A728A BLCA 2 200137114 200137114 + Silent SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr2:200137114C>T c.2022G>A c.(2020-2022)ggG>ggA p.G674G BLCA 2 200137140 200137140 + Nonsense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr2:200137140G>A c.1996C>T c.(1996-1998)Cag>Tag p.Q666* BLCA 2 200137185 200137185 + Nonsense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr2:200137185G>A c.1951C>T c.(1951-1953)Cag>Tag p.Q651* BLCA 2 200137210 200137210 + Missense_Mutation SNP C C A TCGA-FD-A5BU-01A-31D-A26M-08 TCGA-FD-A5BU-10A-01D-A26K-08 g.chr2:200137210C>A c.1926G>T c.(1924-1926)caG>caT p.Q642H BLCA 2 200137286 200137286 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr2:200137286G>A c.1850C>T c.(1849-1851)tCt>tTt p.S617F BLCA 2 200173580 200173580 + Missense_Mutation SNP G G A TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr2:200173580G>A c.1643C>T c.(1642-1644)cCc>cTc p.P548L BLCA 2 200193515 200193515 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr2:200193515C>T c.1292G>A c.(1291-1293)cGc>cAc p.R431H BLCA 2 200213701 200213701 + Missense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr2:200213701G>C c.896C>G c.(895-897)tCt>tGt p.S299C BLCA 2 200245206 200245206 + Missense_Mutation SNP A A G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:200245206A>G c.478T>C c.(478-480)Tca>Cca p.S160P BRCA 2 200137064 200137064 + Missense_Mutation SNP T T A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr2:200137064T>A c.2072A>T c.(2071-2073)gAc>gTc p.D691V BRCA 2 200137254 200137254 + Missense_Mutation SNP T T A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 g.chr2:200137254T>A c.1882A>T c.(1882-1884)Atc>Ttc p.I628F BRCA 2 200137283 200137283 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 g.chr2:200137283C>T c.1853G>A c.(1852-1854)cGc>cAc p.R618H BRCA 2 200173524 200173524 + Missense_Mutation SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 g.chr2:200173524G>A c.1699C>T c.(1699-1701)Cgc>Tgc p.R567C BRCA 2 200173558 200173558 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:200173558G>C c.1665C>G c.(1663-1665)atC>atG p.I555M BRCA 2 200188564 200188564 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:200188564G>C c.1504C>G c.(1504-1506)Caa>Gaa p.Q502E BRCA 2 200193423 200193423 + Nonsense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:200193423G>A c.1384C>T c.(1384-1386)Cag>Tag p.Q462* CESC 2 200173588 200173588 + Silent SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr2:200173588C>A c.1635G>T c.(1633-1635)ctG>ctT p.L545L CESC 2 200213501 200213501 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr2:200213501G>A c.1096C>T c.(1096-1098)Cag>Tag p.Q366* CESC 2 200298085 200298085 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr2:200298085G>C c.322C>G c.(322-324)Cac>Gac p.H108D COAD 2 200137115 200137115 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:200137115C>A c.2021G>T c.(2020-2022)gGg>gTg p.G674V COAD 2 200137245 200137245 + Missense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:200137245T>A c.1891A>T c.(1891-1893)Agc>Tgc p.S631C COAD 2 200137318 200137318 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:200137318C>T c.1818G>A c.(1816-1818)ccG>ccA p.P606P COAD 2 200193449 200193449 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:200193449C>T c.1358G>A c.(1357-1359)aGc>aAc p.S453N COAD 2 200193581 200193581 + Missense_Mutation SNP T T C TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr2:200193581T>C c.1226A>G c.(1225-1227)cAg>cGg p.Q409R COAD 2 200213792 200213792 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:200213792C>T c.805G>A c.(805-807)Gaa>Aaa p.E269K COAD 2 200213812 200213812 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:200213812G>A c.785C>T c.(784-786)gCa>gTa p.A262V COAD 2 200233356 200233356 + Silent SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:200233356T>C c.672A>G c.(670-672)agA>agG p.R224R COAD 2 200245104 200245104 + Missense_Mutation SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr2:200245104C>T c.580G>A c.(580-582)Gaa>Aaa p.E194K COAD 2 200246483 200246483 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:200246483T>C c.407A>G c.(406-408)gAc>gGc p.D136G COAD 2 200246526 200246526 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:200246526T>G c.364A>C c.(364-366)Agg>Cgg p.R122R COAD 2 200298197 200298197 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:200298197G>A c.210C>T c.(208-210)gaC>gaT p.D70D COAD 2 200320686 200320686 + Frame_Shift_Del DEL C C - TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr2:200320686delC c.75delG c.(73-75)gggfs p.G25fs COADREAD 2 200137115 200137115 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:200137115C>A c.2021G>T c.(2020-2022)gGg>gTg p.G674V COADREAD 2 200137245 200137245 + Missense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:200137245T>A c.1891A>T c.(1891-1893)Agc>Tgc p.S631C COADREAD 2 200137318 200137318 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:200137318C>T c.1818G>A c.(1816-1818)ccG>ccA p.P606P COADREAD 2 200173513 200173513 + Silent SNP G G A TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr2:200173513G>A c.1710C>T c.(1708-1710)caC>caT p.H570H COADREAD 2 200193449 200193449 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:200193449C>T c.1358G>A c.(1357-1359)aGc>aAc p.S453N COADREAD 2 200193515 200193515 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:200193515C>T c.1292G>A c.(1291-1293)cGc>cAc p.R431H COADREAD 2 200193581 200193581 + Missense_Mutation SNP T T C TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr2:200193581T>C c.1226A>G c.(1225-1227)cAg>cGg p.Q409R COADREAD 2 200213525 200213525 + Missense_Mutation SNP C C A TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr2:200213525C>A c.1072G>T c.(1072-1074)Gtg>Ttg p.V358L COADREAD 2 200213792 200213792 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:200213792C>T c.805G>A c.(805-807)Gaa>Aaa p.E269K COADREAD 2 200213812 200213812 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr2:200213812G>A c.785C>T c.(784-786)gCa>gTa p.A262V COADREAD 2 200233356 200233356 + Silent SNP T T C TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:200233356T>C c.672A>G c.(670-672)agA>agG p.R224R COADREAD 2 200245104 200245104 + Missense_Mutation SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr2:200245104C>T c.580G>A c.(580-582)Gaa>Aaa p.E194K COADREAD 2 200246483 200246483 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:200246483T>C c.407A>G c.(406-408)gAc>gGc p.D136G COADREAD 2 200246526 200246526 + Silent SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:200246526T>G c.364A>C c.(364-366)Agg>Cgg p.R122R COADREAD 2 200298197 200298197 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:200298197G>A c.210C>T c.(208-210)gaC>gaT p.D70D COADREAD 2 200320686 200320686 + Frame_Shift_Del DEL C C - TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr2:200320686delC c.75delG c.(73-75)gggfs p.G25fs DLBC 2 200173610 200173610 + Missense_Mutation SNP A A G TCGA-GR-A4D9-01B-11D-A31X-10 TCGA-GR-A4D9-10A-01D-A31X-10 g.chr2:200173610A>G c.1613T>C c.(1612-1614)cTc>cCc p.L538P DLBC 2 200193545 200193545 + Missense_Mutation SNP A A G TCGA-FM-8000-01A-11D-2210-10 TCGA-FM-8000-10A-01D-2210-10 g.chr2:200193545A>G c.1262T>C c.(1261-1263)tTc>tCc p.F421S ESCA 2 200136975 200136975 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr2:200136975C>G c.2161G>C c.(2161-2163)Gac>Cac p.D721H ESCA 2 200173631 200173631 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr2:200173631T>G c.1592A>C c.(1591-1593)aAc>aCc p.N531T ESCA 2 200213692 200213692 + Missense_Mutation SNP A A T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr2:200213692A>T c.905T>A c.(904-906)cTt>cAt p.L302H ESCA 2 200213845 200213845 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr2:200213845C>T c.752G>A c.(751-753)cGt>cAt p.R251H ESCA 2 200245168 200245168 + Missense_Mutation SNP A A C TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chr2:200245168A>C c.516T>G c.(514-516)caT>caG p.H172Q ESCA 2 200246514 200246514 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr2:200246514G>C c.376C>G c.(376-378)Ctc>Gtc p.L126V ESCA 2 200298187 200298187 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr2:200298187C>G c.220G>C c.(220-222)Gaa>Caa p.E74Q HNSC 2 200137015 200137015 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 g.chr2:200137015G>A c.2121C>T c.(2119-2121)tcC>tcT p.S707S HNSC 2 200137051 200137051 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr2:200137051C>A c.2085G>T c.(2083-2085)ctG>ctT p.L695L HNSC 2 200137185 200137185 + Nonsense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr2:200137185G>A c.1951C>T c.(1951-1953)Cag>Tag p.Q651* HNSC 2 200137230 200137230 + Missense_Mutation SNP C C A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr2:200137230C>A c.1906G>T c.(1906-1908)Gta>Tta p.V636L HNSC 2 200137348 200137348 + Silent SNP G G T TCGA-QK-A652-01A-11D-A30E-08 TCGA-QK-A652-10A-01D-A30H-08 g.chr2:200137348G>T c.1788C>A c.(1786-1788)ccC>ccA p.P596P HNSC 2 200173524 200173524 + Missense_Mutation SNP G G A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 g.chr2:200173524G>A c.1699C>T c.(1699-1701)Cgc>Tgc p.R567C HNSC 2 200173562 200173562 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr2:200173562A>G c.1661T>C c.(1660-1662)gTc>gCc p.V554A HNSC 2 200173595 200173595 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr2:200173595C>T c.1628G>A c.(1627-1629)cGc>cAc p.R543H HNSC 2 200173603 200173603 + Silent SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr2:200173603G>A c.1620C>T c.(1618-1620)acC>acT p.T540T HNSC 2 200188670 200188670 + Silent SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 g.chr2:200188670C>T c.1398G>A c.(1396-1398)tcG>tcA p.S466S HNSC 2 200193463 200193463 + Silent SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 g.chr2:200193463G>A c.1344C>T c.(1342-1344)gtC>gtT p.V448V HNSC 2 200213543 200213544 + Frame_Shift_Ins INS - - T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr2:200213543_200213544insT c.1053_1054insA c.(1051-1056)ccagagfs p.E352fs HNSC 2 200245204 200245204 + Silent SNP T T A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr2:200245204T>A c.480A>T c.(478-480)tcA>tcT p.S160S HNSC 2 200246428 200246428 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr2:200246428G>C c.462C>G c.(460-462)atC>atG p.I154M HNSC 2 200298060 200298060 + Splice_Site SNP C C A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 g.chr2:200298060C>A c.e3+1 HNSC 2 200298144 200298144 + Missense_Mutation SNP C C T TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr2:200298144C>T c.263G>A c.(262-264)cGg>cAg p.R88Q KICH 2 200136984 200136984 + Missense_Mutation SNP C C T TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr2:200136984C>T c.2152G>A c.(2152-2154)Gaa>Aaa p.E718K KIPAN 2 200136984 200136984 + Missense_Mutation SNP C C T TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr2:200136984C>T c.2152G>A c.(2152-2154)Gaa>Aaa p.E718K KIPAN 2 200193570 200193570 + Missense_Mutation SNP C C A TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr2:200193570C>A c.1237G>T c.(1237-1239)Gta>Tta p.V413L KIPAN 2 200193590 200193590 + Missense_Mutation SNP G G C TCGA-B0-4693-01A-01D-1361-10 TCGA-B0-4693-11A-01D-1361-10 g.chr2:200193590G>C c.1217C>G c.(1216-1218)aCa>aGa p.T406R KIPAN 2 200193631 200193631 + Silent SNP T T A TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chr2:200193631T>A c.1176A>T c.(1174-1176)ggA>ggT p.G392G KIPAN 2 200245089 200245089 + Nonsense_Mutation SNP G G A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr2:200245089G>A c.595C>T c.(595-597)Cag>Tag p.Q199* KIRC 2 200193590 200193590 + Missense_Mutation SNP G G C TCGA-B0-4693-01A-01D-1361-10 TCGA-B0-4693-11A-01D-1361-10 g.chr2:200193590G>C c.1217C>G c.(1216-1218)aCa>aGa p.T406R KIRC 2 200193631 200193631 + Silent SNP T T A TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chr2:200193631T>A c.1176A>T c.(1174-1176)ggA>ggT p.G392G KIRC 2 200245089 200245089 + Nonsense_Mutation SNP G G A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr2:200245089G>A c.595C>T c.(595-597)Cag>Tag p.Q199* KIRP 2 200193570 200193570 + Missense_Mutation SNP C C A TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr2:200193570C>A c.1237G>T c.(1237-1239)Gta>Tta p.V413L LUAD 2 200136964 200136964 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:200136964C>T c.2172G>A c.(2170-2172)aaG>aaA p.K724K LUAD 2 200137063 200137063 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:200137063G>T c.2073C>A c.(2071-2073)gaC>gaA p.D691E LUAD 2 200137080 200137080 + Missense_Mutation SNP C C G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:200137080C>G c.2056G>C c.(2056-2058)Gtg>Ctg p.V686L LUAD 2 200137136 200137136 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 g.chr2:200137136C>A c.2000G>T c.(1999-2001)cGg>cTg p.R667L LUAD 2 200137156 200137156 + Missense_Mutation SNP G G C TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr2:200137156G>C c.1980C>G c.(1978-1980)atC>atG p.I660M LUAD 2 200137209 200137209 + Nonsense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 g.chr2:200137209C>A c.1927G>T c.(1927-1929)Gaa>Taa p.E643* LUAD 2 200137217 200137217 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:200137217G>A c.1919C>T c.(1918-1920)cCa>cTa p.P640L LUAD 2 200137222 200137222 + Silent SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr2:200137222C>A c.1914G>T c.(1912-1914)ctG>ctT p.L638L LUAD 2 200137283 200137283 + Missense_Mutation SNP C C A TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr2:200137283C>A c.1853G>T c.(1852-1854)cGc>cTc p.R618L LUAD 2 200137314 200137314 + Missense_Mutation SNP C C T TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr2:200137314C>T c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K LUAD 2 200173488 200173488 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr2:200173488C>A c.1735G>T c.(1735-1737)Gtg>Ttg p.V579L LUAD 2 200173569 200173569 + Missense_Mutation SNP T T C TCGA-NJ-A55A-01A-11D-A25L-08 TCGA-NJ-A55A-10A-01D-A25L-08 g.chr2:200173569T>C c.1654A>G c.(1654-1656)Agg>Ggg p.R552G LUAD 2 200173611 200173611 + Frame_Shift_Del DEL G G - TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr2:200173611delG c.1612delC c.(1612-1614)ctcfs p.L538fs LUAD 2 200173646 200173646 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr2:200173646T>A c.1577A>T c.(1576-1578)aAc>aTc p.N526I LUAD 2 200173681 200173681 + Splice_Site SNP C C G TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:200173681C>G c.e10-1 LUAD 2 200188558 200188558 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:200188558G>T c.1510C>A c.(1510-1512)Ctg>Atg p.L504M LUAD 2 200188559 200188559 + Silent SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr2:200188559G>T c.1509C>A c.(1507-1509)gcC>gcA p.A503A LUAD 2 200188633 200188633 + Missense_Mutation SNP C C A TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr2:200188633C>A c.1435G>T c.(1435-1437)Gcc>Tcc p.A479S LUAD 2 200193506 200193506 + Missense_Mutation SNP T T A TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr2:200193506T>A c.1301A>T c.(1300-1302)cAg>cTg p.Q434L LUAD 2 200193550 200193550 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr2:200193550C>A c.1257G>T c.(1255-1257)caG>caT p.Q419H LUAD 2 200213470 200213470 + Missense_Mutation SNP C C A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr2:200213470C>A c.1127G>T c.(1126-1128)aGt>aTt p.S376I LUAD 2 200213476 200213476 + Missense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr2:200213476C>A c.1121G>T c.(1120-1122)aGg>aTg p.R374M LUAD 2 200213481 200213481 + Silent SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr2:200213481C>T c.1116G>A c.(1114-1116)ctG>ctA p.L372L LUAD 2 200213524 200213524 + Missense_Mutation SNP A A G TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr2:200213524A>G c.1073T>C c.(1072-1074)gTg>gCg p.V358A LUAD 2 200213530 200213530 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr2:200213530G>T c.1067C>A c.(1066-1068)tCt>tAt p.S356Y LUAD 2 200213728 200213728 + Missense_Mutation SNP T T A TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 g.chr2:200213728T>A c.869A>T c.(868-870)cAg>cTg p.Q290L LUAD 2 200213787 200213787 + Missense_Mutation SNP C C A TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr2:200213787C>A c.810G>T c.(808-810)caG>caT p.Q270H LUAD 2 200213792 200213792 + Missense_Mutation SNP C C T TCGA-93-A4JN-01A-11D-A24P-08 TCGA-93-A4JN-10A-01D-A24P-08 g.chr2:200213792C>T c.805G>A c.(805-807)Gaa>Aaa p.E269K LUAD 2 200213847 200213847 + Missense_Mutation SNP C C A TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr2:200213847C>A c.750G>T c.(748-750)caG>caT p.Q250H LUAD 2 200245120 200245120 + Missense_Mutation SNP C C A TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:200245120C>A c.564G>T c.(562-564)caG>caT p.Q188H LUAD 2 200245187 200245187 + Frame_Shift_Del DEL G G - TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:200245187delG c.497delC c.(496-498)cctfs p.P166fs LUAD 2 200245205 200245205 + Nonsense_Mutation SNP G G T TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr2:200245205G>T c.479C>A c.(478-480)tCa>tAa p.S160* LUAD 2 200245208 200245208 + Missense_Mutation SNP C C A TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr2:200245208C>A c.476G>T c.(475-477)tGt>tTt p.C159F LUAD 2 200246416 200246416 + Splice_Site SNP C C A TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr2:200246416C>A c.e4+1 LUAD 2 200246493 200246493 + Missense_Mutation SNP C C A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr2:200246493C>A c.397G>T c.(397-399)Gat>Tat p.D133Y LUAD 2 200246529 200246529 + Nonsense_Mutation SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr2:200246529C>A c.361G>T c.(361-363)Gga>Tga p.G121* LUAD 2 200298174 200298174 + Missense_Mutation SNP C C G TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr2:200298174C>G c.233G>C c.(232-234)aGa>aCa p.R78T LUAD 2 200298192 200298192 + Missense_Mutation SNP G G A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr2:200298192G>A c.215C>T c.(214-216)tCt>tTt p.S72F LUAD 2 200298195 200298195 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr2:200298195C>A c.212G>T c.(211-213)gGc>gTc p.G71V LUSC 2 200137131 200137131 + Missense_Mutation SNP G G A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chr2:200137131G>A c.2005C>T c.(2005-2007)Cac>Tac p.H669Y LUSC 2 200137256 200137256 + Missense_Mutation SNP C C G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chr2:200137256C>G c.1880G>C c.(1879-1881)gGg>gCg p.G627A LUSC 2 200137310 200137310 + Missense_Mutation SNP T T C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr2:200137310T>C c.1826A>G c.(1825-1827)gAc>gGc p.D609G LUSC 2 200137379 200137379 + Missense_Mutation SNP T T A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr2:200137379T>A c.1757A>T c.(1756-1758)cAg>cTg p.Q586L LUSC 2 200193475 200193475 + Silent SNP A A G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr2:200193475A>G c.1332T>C c.(1330-1332)aaT>aaC p.N444N LUSC 2 200193544 200193544 + Silent SNP G G A TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chr2:200193544G>A c.1263C>T c.(1261-1263)ttC>ttT p.F421F LUSC 2 200193597 200193597 + Missense_Mutation SNP G G T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr2:200193597G>T c.1210C>A c.(1210-1212)Cct>Act p.P404T LUSC 2 200213525 200213525 + Missense_Mutation SNP C C T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 g.chr2:200213525C>T c.1072G>A c.(1072-1074)Gtg>Atg p.V358M LUSC 2 200233368 200233368 + Missense_Mutation SNP C C G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr2:200233368C>G c.660G>C c.(658-660)caG>caC p.Q220H LUSC 2 200298113 200298113 + Missense_Mutation SNP C C A TCGA-51-4079-01A-01D-1458-08 TCGA-51-4079-11A-01D-1458-08 g.chr2:200298113C>A c.294G>T c.(292-294)gaG>gaT p.E98D LUSC 2 200298128 200298128 + Silent SNP A A G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 g.chr2:200298128A>G c.279T>C c.(277-279)ttT>ttC p.F93F LUSC 2 200298194 200298194 + Silent SNP G G C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr2:200298194G>C c.213C>G c.(211-213)ggC>ggG p.G71G OV 2 200137015 200137015 + Silent SNP G G A TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 g.chr2:200137015G>A c.2121C>T c.(2119-2121)tcC>tcT p.S707S OV 2 200137319 200137319 + Missense_Mutation SNP G G A TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr2:200137319G>A c.1817C>T c.(1816-1818)cCg>cTg p.P606L OV 2 200137336 200137336 + Silent SNP C C T TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 g.chr2:200137336C>T c.1800G>A c.(1798-1800)gcG>gcA p.A600A PAAD 2 200137033 200137033 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:200137033G>A c.2103C>T c.(2101-2103)aaC>aaT p.N701N PAAD 2 200137137 200137137 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:200137137G>A c.1999C>T c.(1999-2001)Cgg>Tgg p.R667W PAAD 2 200137187 200137187 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:200137187G>A c.1949C>T c.(1948-1950)gCt>gTt p.A650V PAAD 2 200173513 200173513 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:200173513G>A c.1710C>T c.(1708-1710)caC>caT p.H570H PAAD 2 200213649 200213649 + Silent SNP C C A TCGA-HZ-A8P1-01A-11D-A377-08 TCGA-HZ-A8P1-10A-01D-A37A-08 g.chr2:200213649C>A c.948G>T c.(946-948)ctG>ctT p.L316L PRAD 2 200137089 200137089 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 g.chr2:200137089C>T c.2047G>A c.(2047-2049)Gcg>Acg p.A683T PRAD 2 200233398 200233398 + Nonsense_Mutation SNP A A T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 g.chr2:200233398A>T c.630T>A c.(628-630)taT>taA p.Y210* READ 2 200173513 200173513 + Silent SNP G G A TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr2:200173513G>A c.1710C>T c.(1708-1710)caC>caT p.H570H READ 2 200193515 200193515 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:200193515C>T c.1292G>A c.(1291-1293)cGc>cAc p.R431H READ 2 200213525 200213525 + Missense_Mutation SNP C C A TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr2:200213525C>A c.1072G>T c.(1072-1074)Gtg>Ttg p.V358L SARC 2 200213845 200213845 + Missense_Mutation SNP C C T TCGA-DX-A23V-01A-11D-A29N-09 TCGA-DX-A23V-10A-01D-A29N-09 g.chr2:200213845C>T c.752G>A c.(751-753)cGt>cAt p.R251H SARC 2 200245158 200245158 + Missense_Mutation SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 g.chr2:200245158G>A c.526C>T c.(526-528)Cgc>Tgc p.R176C SARC 2 200246469 200246469 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr2:200246469C>T c.421G>A c.(421-423)Gac>Aac p.D141N SKCM 2 200136952 200136952 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 g.chr2:200136952G>A c.2184C>T c.(2182-2184)gcC>gcT p.A728A SKCM 2 200137014 200137014 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:200137014C>T c.2122G>A c.(2122-2124)Gag>Aag p.E708K SKCM 2 200137016 200137016 + Missense_Mutation SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr2:200137016G>A c.2120C>T c.(2119-2121)tCc>tTc p.S707F SKCM 2 200137114 200137114 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr2:200137114C>T c.2022G>A c.(2020-2022)ggG>ggA p.G674G SKCM 2 200137150 200137150 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:200137150G>A c.1986C>T c.(1984-1986)ttC>ttT p.F662F SKCM 2 200137332 200137332 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr2:200137332G>A c.1804C>T c.(1804-1806)Ccc>Tcc p.P602S SKCM 2 200137354 200137354 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr2:200137354G>A c.1782C>T c.(1780-1782)tcC>tcT p.S594S SKCM 2 200188594 200188594 + Missense_Mutation SNP G G C TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr2:200188594G>C c.1474C>G c.(1474-1476)Caa>Gaa p.Q492E SKCM 2 200188671 200188671 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr2:200188671G>A c.1397C>T c.(1396-1398)tCg>tTg p.S466L SKCM 2 200193516 200193516 + Missense_Mutation SNP G G A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr2:200193516G>A c.1291C>T c.(1291-1293)Cgc>Tgc p.R431C SKCM 2 200193547 200193547 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr2:200193547A>T c.1260T>A c.(1258-1260)aaT>aaA p.N420K SKCM 2 200213545 200213545 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr2:200213545G>A c.1052C>T c.(1051-1053)cCa>cTa p.P351L SKCM 2 200213592 200213592 + Silent SNP G G A TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr2:200213592G>A c.1005C>T c.(1003-1005)atC>atT p.I335I SKCM 2 200213619 200213619 + Silent SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr2:200213619G>A c.978C>T c.(976-978)ctC>ctT p.L326L SKCM 2 200213622 200213622 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr2:200213622C>T c.975G>A c.(973-975)cgG>cgA p.R325R SKCM 2 200213697 200213697 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr2:200213697G>A c.900C>T c.(898-900)ccC>ccT p.P300P SKCM 2 200213782 200213782 + Missense_Mutation SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr2:200213782G>A c.815C>T c.(814-816)cCt>cTt p.P272L SKCM 2 200213792 200213792 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:200213792C>T c.805G>A c.(805-807)Gaa>Aaa p.E269K SKCM 2 200213792 200213792 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr2:200213792C>T c.805G>A c.(805-807)Gaa>Aaa p.E269K SKCM 2 200233369 200233369 + Missense_Mutation SNP T T G TCGA-FS-A4FB-06A-11D-A25O-08 TCGA-FS-A4FB-10B-01D-A25O-08 g.chr2:200233369T>G c.659A>C c.(658-660)cAg>cCg p.Q220P

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 2 200173561 200173561 single base substitution G A downstream_gene_variant BLCA-CN 2 200173561 200173561 single base substitution G A synonymous_variant V436V 1308C>T BLCA-CN 2 200173561 200173561 single base substitution G A synonymous_variant V495V 1485C>T BLCA-CN 2 200173561 200173561 single base substitution G A synonymous_variant V554V 1662C>T BLCA-CN 2 200246484 200246484 single base substitution C T exon_variant BLCA-CN 2 200246484 200246484 single base substitution C T intron_variant BLCA-CN 2 200246484 200246484 single base substitution C T missense_variant D136N 406G>A BLCA-CN 2 200246484 200246484 single base substitution C T missense_variant D77N 229G>A BLCA-US 2 200137185 200137185 single base substitution G A stop_gained Q533* 1597C>T BLCA-US 2 200137185 200137185 single base substitution G A stop_gained Q592* 1774C>T BLCA-US 2 200137185 200137185 single base substitution G A stop_gained Q651* 1951C>T BLCA-US 2 200137286 200137286 single base substitution G A missense_variant S499F 1496C>T BLCA-US 2 200137286 200137286 single base substitution G A missense_variant S558F 1673C>T BLCA-US 2 200137286 200137286 single base substitution G A missense_variant S617F 1850C>T BLCA-US 2 200173580 200173580 single base substitution G A downstream_gene_variant BLCA-US 2 200173580 200173580 single base substitution G A missense_variant P430L 1289C>T BLCA-US 2 200173580 200173580 single base substitution G A missense_variant P489L 1466C>T BLCA-US 2 200173580 200173580 single base substitution G A missense_variant P548L 1643C>T BLCA-US 2 200213701 200213701 single base substitution G C exon_variant BLCA-US 2 200213701 200213701 single base substitution G C missense_variant S181C 542C>G BLCA-US 2 200213701 200213701 single base substitution G C missense_variant S240C 719C>G BLCA-US 2 200213701 200213701 single base substitution G C missense_variant S299C 896C>G BOCA-FR 2 200191857 200191857 single base substitution C A intron_variant BOCA-FR 2 200201991 200201991 single base substitution A T intron_variant BOCA-FR 2 200243986 200243986 single base substitution G T intron_variant BRCA-EU 2 200130228 200130228 single base substitution T C downstream_gene_variant BRCA-EU 2 200132175 200132175 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 200133050 200133050 single base substitution A G downstream_gene_variant BRCA-EU 2 200133656 200133656 single base substitution G A downstream_gene_variant BRCA-EU 2 200134194 200134194 single base substitution A T downstream_gene_variant BRCA-EU 2 200134809 200134809 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 200134809 200134809 single base substitution G T downstream_gene_variant BRCA-EU 2 200135109 200135109 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 200135109 200135109 single base substitution T C downstream_gene_variant BRCA-EU 2 200136262 200136262 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 200136262 200136262 single base substitution C T downstream_gene_variant BRCA-EU 2 200136323 200136323 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 200136323 200136323 single base substitution G A downstream_gene_variant BRCA-EU 2 200136459 200136459 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 200136459 200136459 single base substitution G A downstream_gene_variant BRCA-EU 2 200137350 200137350 single base substitution G A missense_variant P478S 1432C>T BRCA-EU 2 200137350 200137350 single base substitution G A missense_variant P537S 1609C>T BRCA-EU 2 200137350 200137350 single base substitution G A missense_variant P596S 1786C>T BRCA-EU 2 200137355 200137355 single base substitution G T missense_variant S476Y 1427C>A BRCA-EU 2 200137355 200137355 single base substitution G T missense_variant S535Y 1604C>A BRCA-EU 2 200137355 200137355 single base substitution G T missense_variant S594Y 1781C>A BRCA-EU 2 200137376 200137376 single base substitution G C missense_variant S469C 1406C>G BRCA-EU 2 200137376 200137376 single base substitution G C missense_variant S528C 1583C>G BRCA-EU 2 200137376 200137376 single base substitution G C missense_variant S587C 1760C>G BRCA-EU 2 200138345 200138345 single base substitution A G intron_variant BRCA-EU 2 200138451 200138451 deletion of <=200bp T - intron_variant BRCA-EU 2 200138650 200138650 single base substitution G A intron_variant BRCA-EU 2 200138654 200138654 single base substitution T C intron_variant BRCA-EU 2 200141097 200141097 insertion of <=200bp - T intron_variant BRCA-EU 2 200141328 200141328 single base substitution C T intron_variant BRCA-EU 2 200141364 200141364 single base substitution T G intron_variant BRCA-EU 2 200141604 200141604 single base substitution G A intron_variant BRCA-EU 2 200142191 200142191 deletion of <=200bp C - intron_variant BRCA-EU 2 200142207 200142207 single base substitution C A intron_variant BRCA-EU 2 200142285 200142285 single base substitution C G intron_variant BRCA-EU 2 200142558 200142558 single base substitution C A intron_variant BRCA-EU 2 200142881 200142881 single base substitution G A intron_variant BRCA-EU 2 200144306 200144306 single base substitution C A intron_variant BRCA-EU 2 200144505 200144505 single base substitution T C intron_variant BRCA-EU 2 200145470 200145470 single base substitution C G intron_variant BRCA-EU 2 200147420 200147420 single base substitution T A intron_variant BRCA-EU 2 200147450 200147450 single base substitution T C intron_variant BRCA-EU 2 200149769 200149769 single base substitution C A intron_variant BRCA-EU 2 200150456 200150456 single base substitution A G intron_variant BRCA-EU 2 200150480 200150480 single base substitution A G intron_variant BRCA-EU 2 200150774 200150774 single base substitution C G intron_variant BRCA-EU 2 200151033 200151033 single base substitution G C intron_variant BRCA-EU 2 200151355 200151355 single base substitution C G intron_variant BRCA-EU 2 200151817 200151817 single base substitution G T intron_variant BRCA-EU 2 200151925 200151925 single base substitution A G intron_variant BRCA-EU 2 200152311 200152311 single base substitution G C intron_variant BRCA-EU 2 200153342 200153342 single base substitution C T intron_variant BRCA-EU 2 200154854 200154854 single base substitution G A intron_variant BRCA-EU 2 200155108 200155108 single base substitution T G intron_variant BRCA-EU 2 200155189 200155189 single base substitution C T intron_variant BRCA-EU 2 200155897 200155897 deletion of <=200bp A - intron_variant BRCA-EU 2 200156298 200156298 single base substitution C T intron_variant BRCA-EU 2 200156929 200156929 single base substitution A T intron_variant BRCA-EU 2 200157992 200157992 single base substitution G A intron_variant BRCA-EU 2 200158132 200158132 single base substitution A C intron_variant BRCA-EU 2 200158563 200158563 single base substitution T C intron_variant BRCA-EU 2 200158891 200158891 single base substitution A G intron_variant BRCA-EU 2 200159432 200159432 single base substitution G A intron_variant BRCA-EU 2 200160211 200160211 single base substitution T A intron_variant BRCA-EU 2 200160631 200160631 single base substitution T C intron_variant BRCA-EU 2 200160717 200160717 single base substitution A G intron_variant BRCA-EU 2 200160880 200160880 single base substitution G C intron_variant BRCA-EU 2 200161168 200161168 single base substitution C A intron_variant BRCA-EU 2 200161414 200161414 single base substitution C T intron_variant BRCA-EU 2 200161890 200161890 single base substitution C A intron_variant BRCA-EU 2 200162477 200162477 single base substitution A T intron_variant BRCA-EU 2 200162478 200162478 single base substitution G T intron_variant BRCA-EU 2 200162917 200162917 single base substitution C G intron_variant BRCA-EU 2 200163316 200163316 single base substitution A T intron_variant BRCA-EU 2 200163718 200163718 single base substitution C A intron_variant BRCA-EU 2 200165564 200165564 single base substitution G T intron_variant BRCA-EU 2 200165571 200165571 single base substitution C G intron_variant BRCA-EU 2 200165939 200165939 single base substitution G C intron_variant BRCA-EU 2 200166379 200166379 single base substitution G T intron_variant BRCA-EU 2 200166756 200166756 single base substitution C A intron_variant BRCA-EU 2 200166927 200166927 single base substitution G A intron_variant BRCA-EU 2 200168493 200168493 single base substitution G A intron_variant BRCA-EU 2 200168662 200168662 single base substitution A G downstream_gene_variant BRCA-EU 2 200168662 200168662 single base substitution A G intron_variant BRCA-EU 2 200169698 200169698 single base substitution A C downstream_gene_variant BRCA-EU 2 200169698 200169698 single base substitution A C intron_variant BRCA-EU 2 200171624 200171624 single base substitution C A downstream_gene_variant BRCA-EU 2 200171624 200171624 single base substitution C A intron_variant BRCA-EU 2 200171628 200171628 single base substitution C A downstream_gene_variant BRCA-EU 2 200171628 200171628 single base substitution C A intron_variant BRCA-EU 2 200172736 200172736 single base substitution C A downstream_gene_variant BRCA-EU 2 200172736 200172736 single base substitution C A intron_variant BRCA-EU 2 200172930 200172930 single base substitution A T downstream_gene_variant BRCA-EU 2 200172930 200172930 single base substitution A T intron_variant BRCA-EU 2 200173028 200173028 single base substitution T C downstream_gene_variant BRCA-EU 2 200173028 200173028 single base substitution T C intron_variant BRCA-EU 2 200173731 200173731 single base substitution G A intron_variant BRCA-EU 2 200173876 200173876 single base substitution T A intron_variant BRCA-EU 2 200174585 200174585 single base substitution C T intron_variant BRCA-EU 2 200175149 200175149 single base substitution G A intron_variant BRCA-EU 2 200178270 200178270 single base substitution A G intron_variant BRCA-EU 2 200178274 200178274 single base substitution C T intron_variant BRCA-EU 2 200178998 200178998 single base substitution G C intron_variant BRCA-EU 2 200179511 200179511 insertion of <=200bp - A intron_variant BRCA-EU 2 200179550 200179550 single base substitution G A intron_variant BRCA-EU 2 200180615 200180615 single base substitution C G intron_variant BRCA-EU 2 200180910 200180910 single base substitution G A intron_variant BRCA-EU 2 200181579 200181579 single base substitution G C intron_variant BRCA-EU 2 200181687 200181687 single base substitution C G intron_variant BRCA-EU 2 200182551 200182551 single base substitution C T intron_variant BRCA-EU 2 200184506 200184506 single base substitution G C intron_variant BRCA-EU 2 200186497 200186497 single base substitution A T intron_variant BRCA-EU 2 200186963 200186963 single base substitution C A intron_variant BRCA-EU 2 200187859 200187859 single base substitution T C intron_variant BRCA-EU 2 200188824 200188824 single base substitution C T intron_variant BRCA-EU 2 200188832 200188832 single base substitution T C intron_variant BRCA-EU 2 200188954 200188954 single base substitution T G intron_variant BRCA-EU 2 200189934 200189934 single base substitution T A intron_variant BRCA-EU 2 200189957 200189957 single base substitution A G intron_variant BRCA-EU 2 200190715 200190715 single base substitution C T intron_variant BRCA-EU 2 200191404 200191404 insertion of <=200bp - A intron_variant BRCA-EU 2 200191491 200191491 deletion of <=200bp T - intron_variant BRCA-EU 2 200191843 200191843 single base substitution C T intron_variant BRCA-EU 2 200192291 200192291 single base substitution A T intron_variant BRCA-EU 2 200192300 200192300 single base substitution G A intron_variant BRCA-EU 2 200192348 200192348 single base substitution A T intron_variant BRCA-EU 2 200192914 200192914 single base substitution G T intron_variant BRCA-EU 2 200192977 200192977 single base substitution G C intron_variant BRCA-EU 2 200193317 200193317 single base substitution T C intron_variant BRCA-EU 2 200193750 200193750 single base substitution G C exon_variant BRCA-EU 2 200193750 200193750 single base substitution G C intron_variant BRCA-EU 2 200194972 200194992 deletion of <=200bp TATAGCGAAGCAAATGCCAGT - intron_variant BRCA-EU 2 200194972 200194992 deletion of <=200bp TATAGCGAAGCAAATGCCAGT - upstream_gene_variant BRCA-EU 2 200195742 200195742 single base substitution G A intron_variant BRCA-EU 2 200195742 200195742 single base substitution G A upstream_gene_variant BRCA-EU 2 200196061 200196061 single base substitution G A intron_variant BRCA-EU 2 200196061 200196061 single base substitution G A upstream_gene_variant BRCA-EU 2 200197724 200197724 single base substitution C A intron_variant BRCA-EU 2 200197724 200197724 single base substitution C A upstream_gene_variant BRCA-EU 2 200198440 200198440 single base substitution T G intron_variant BRCA-EU 2 200198440 200198440 single base substitution T G upstream_gene_variant BRCA-EU 2 200199078 200199078 single base substitution C A intron_variant BRCA-EU 2 200199094 200199094 single base substitution T C intron_variant BRCA-EU 2 200201684 200201684 single base substitution A T intron_variant BRCA-EU 2 200201796 200201796 single base substitution C G intron_variant BRCA-EU 2 200202191 200202191 single base substitution T C intron_variant BRCA-EU 2 200202690 200202690 single base substitution T A intron_variant BRCA-EU 2 200203262 200203262 single base substitution C A intron_variant BRCA-EU 2 200203282 200203282 single base substitution C T intron_variant BRCA-EU 2 200204107 200204107 single base substitution G T intron_variant BRCA-EU 2 200205338 200205338 single base substitution A G intron_variant BRCA-EU 2 200206047 200206047 single base substitution T C intron_variant BRCA-EU 2 200206092 200206092 single base substitution C A intron_variant BRCA-EU 2 200206110 200206110 single base substitution G A intron_variant BRCA-EU 2 200207632 200207632 single base substitution T A downstream_gene_variant BRCA-EU 2 200207632 200207632 single base substitution T A intron_variant BRCA-EU 2 200208543 200208543 single base substitution C G downstream_gene_variant BRCA-EU 2 200208543 200208543 single base substitution C G intron_variant BRCA-EU 2 200209319 200209319 single base substitution G A downstream_gene_variant BRCA-EU 2 200209319 200209319 single base substitution G A intron_variant BRCA-EU 2 200209706 200209706 single base substitution C T downstream_gene_variant BRCA-EU 2 200209706 200209706 single base substitution C T intron_variant BRCA-EU 2 200210222 200210222 single base substitution A G downstream_gene_variant BRCA-EU 2 200210222 200210222 single base substitution A G intron_variant BRCA-EU 2 200210351 200210351 single base substitution C G downstream_gene_variant BRCA-EU 2 200210351 200210351 single base substitution C G intron_variant BRCA-EU 2 200210652 200210652 single base substitution A G downstream_gene_variant BRCA-EU 2 200210652 200210652 single base substitution A G intron_variant BRCA-EU 2 200210838 200210838 single base substitution C A downstream_gene_variant BRCA-EU 2 200210838 200210838 single base substitution C A intron_variant BRCA-EU 2 200211448 200211448 single base substitution C T downstream_gene_variant BRCA-EU 2 200211448 200211448 single base substitution C T intron_variant BRCA-EU 2 200211742 200211742 single base substitution C T exon_variant BRCA-EU 2 200211742 200211742 single base substitution C T intron_variant BRCA-EU 2 200213752 200213752 single base substitution A T exon_variant BRCA-EU 2 200213752 200213752 single base substitution A T missense_variant I164N 491T>A BRCA-EU 2 200213752 200213752 single base substitution A T missense_variant I223N 668T>A BRCA-EU 2 200213752 200213752 single base substitution A T missense_variant I282N 845T>A BRCA-EU 2 200215517 200215517 single base substitution T G intron_variant BRCA-EU 2 200215901 200215901 single base substitution T A intron_variant BRCA-EU 2 200216189 200216189 single base substitution T G intron_variant BRCA-EU 2 200216246 200216246 single base substitution C G intron_variant BRCA-EU 2 200218865 200218865 single base substitution G C intron_variant BRCA-EU 2 200220620 200220620 single base substitution T C intron_variant BRCA-EU 2 200223019 200223019 deletion of <=200bp A - intron_variant BRCA-EU 2 200223394 200223394 single base substitution A G intron_variant BRCA-EU 2 200223786 200223786 insertion of <=200bp - A intron_variant BRCA-EU 2 200223950 200223950 single base substitution C G intron_variant BRCA-EU 2 200224466 200224466 single base substitution C T intron_variant BRCA-EU 2 200224469 200224469 single base substitution C G intron_variant BRCA-EU 2 200224643 200224643 single base substitution T A intron_variant BRCA-EU 2 200224893 200224893 single base substitution C G intron_variant BRCA-EU 2 200225362 200225362 single base substitution C G intron_variant BRCA-EU 2 200225612 200225612 single base substitution C A intron_variant BRCA-EU 2 200226623 200226623 single base substitution G C intron_variant BRCA-EU 2 200226934 200226934 single base substitution C A intron_variant BRCA-EU 2 200227775 200227775 single base substitution C A intron_variant BRCA-EU 2 200228711 200228711 single base substitution T A downstream_gene_variant BRCA-EU 2 200228711 200228711 single base substitution T A intron_variant BRCA-EU 2 200229777 200229777 single base substitution C A downstream_gene_variant BRCA-EU 2 200229777 200229777 single base substitution C A intron_variant BRCA-EU 2 200229784 200229784 insertion of <=200bp - GGTAAATCCCTCATAA downstream_gene_variant BRCA-EU 2 200229784 200229784 insertion of <=200bp - GGTAAATCCCTCATAA intron_variant BRCA-EU 2 200230511 200230511 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 200230511 200230511 deletion of <=200bp T - intron_variant BRCA-EU 2 200231949 200231949 single base substitution T G downstream_gene_variant BRCA-EU 2 200231949 200231949 single base substitution T G intron_variant BRCA-EU 2 200233073 200233073 single base substitution G A downstream_gene_variant BRCA-EU 2 200233073 200233073 single base substitution G A intron_variant BRCA-EU 2 200233219 200233219 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 200233219 200233219 deletion of <=200bp A - intron_variant BRCA-EU 2 200234105 200234105 single base substitution A G intron_variant BRCA-EU 2 200234105 200234105 single base substitution A G upstream_gene_variant BRCA-EU 2 200234320 200234320 single base substitution A T intron_variant BRCA-EU 2 200234320 200234320 single base substitution A T upstream_gene_variant BRCA-EU 2 200234354 200234354 single base substitution G C intron_variant BRCA-EU 2 200234354 200234354 single base substitution G C upstream_gene_variant BRCA-EU 2 200234853 200234853 single base substitution G A intron_variant BRCA-EU 2 200234853 200234853 single base substitution G A upstream_gene_variant BRCA-EU 2 200236211 200236211 single base substitution T A intron_variant BRCA-EU 2 200236211 200236211 single base substitution T A upstream_gene_variant BRCA-EU 2 200236591 200236591 single base substitution G A intron_variant BRCA-EU 2 200236591 200236591 single base substitution G A upstream_gene_variant BRCA-EU 2 200237493 200237493 deletion of <=200bp A - intron_variant BRCA-EU 2 200237493 200237493 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 200237998 200237998 single base substitution C T intron_variant BRCA-EU 2 200237998 200237998 single base substitution C T upstream_gene_variant BRCA-EU 2 200238394 200238394 single base substitution T A intron_variant BRCA-EU 2 200238394 200238394 single base substitution T A upstream_gene_variant BRCA-EU 2 200238930 200238930 single base substitution C T intron_variant BRCA-EU 2 200239285 200239285 single base substitution C T intron_variant BRCA-EU 2 200239435 200239435 single base substitution C A intron_variant BRCA-EU 2 200239696 200239696 single base substitution A G intron_variant BRCA-EU 2 200241926 200241926 single base substitution C T intron_variant BRCA-EU 2 200242802 200242802 single base substitution A G intron_variant BRCA-EU 2 200243486 200243486 single base substitution G A intron_variant BRCA-EU 2 200244021 200244021 single base substitution C G intron_variant BRCA-EU 2 200245560 200245560 single base substitution G T intron_variant BRCA-EU 2 200246987 200246987 single base substitution G C intron_variant BRCA-EU 2 200247034 200247034 single base substitution C T intron_variant BRCA-EU 2 200249179 200249179 single base substitution G C intron_variant BRCA-EU 2 200249632 200249632 single base substitution G T intron_variant BRCA-EU 2 200249805 200249805 single base substitution G A intron_variant BRCA-EU 2 200250314 200250314 single base substitution G A intron_variant BRCA-EU 2 200252053 200252053 single base substitution G C intron_variant BRCA-EU 2 200252416 200252416 single base substitution C T intron_variant BRCA-EU 2 200252505 200252505 insertion of <=200bp - T intron_variant BRCA-EU 2 200252635 200252635 single base substitution A T intron_variant BRCA-EU 2 200252760 200252760 single base substitution C T intron_variant BRCA-EU 2 200254202 200254202 single base substitution A G intron_variant BRCA-EU 2 200254570 200254570 deletion of <=200bp T - intron_variant BRCA-EU 2 200254735 200254735 single base substitution T G intron_variant BRCA-EU 2 200254812 200254812 insertion of <=200bp - A intron_variant BRCA-EU 2 200255855 200255855 single base substitution G A downstream_gene_variant BRCA-EU 2 200255855 200255855 single base substitution G A intron_variant BRCA-EU 2 200256082 200256082 single base substitution G A downstream_gene_variant BRCA-EU 2 200256082 200256082 single base substitution G A intron_variant BRCA-EU 2 200256984 200256984 single base substitution T C downstream_gene_variant BRCA-EU 2 200256984 200256984 single base substitution T C intron_variant BRCA-EU 2 200257001 200257001 single base substitution C A downstream_gene_variant BRCA-EU 2 200257001 200257001 single base substitution C A intron_variant BRCA-EU 2 200257682 200257682 single base substitution C T downstream_gene_variant BRCA-EU 2 200257682 200257682 single base substitution C T intron_variant BRCA-EU 2 200258151 200258151 single base substitution C T downstream_gene_variant BRCA-EU 2 200258151 200258151 single base substitution C T intron_variant BRCA-EU 2 200258611 200258611 single base substitution G A downstream_gene_variant BRCA-EU 2 200258611 200258611 single base substitution G A intron_variant BRCA-EU 2 200259382 200259382 single base substitution G A downstream_gene_variant BRCA-EU 2 200259382 200259382 single base substitution G A intron_variant BRCA-EU 2 200259395 200259395 single base substitution G A downstream_gene_variant BRCA-EU 2 200259395 200259395 single base substitution G A intron_variant BRCA-EU 2 200259401 200259401 single base substitution G A downstream_gene_variant BRCA-EU 2 200259401 200259401 single base substitution G A intron_variant BRCA-EU 2 200260765 200260765 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 200260765 200260765 single base substitution G A intron_variant BRCA-EU 2 200261249 200261249 single base substitution A T 3_prime_UTR_variant BRCA-EU 2 200261249 200261249 single base substitution A T intron_variant BRCA-EU 2 200261348 200261348 single base substitution C A 3_prime_UTR_variant BRCA-EU 2 200261348 200261348 single base substitution C A intron_variant BRCA-EU 2 200261428 200261428 single base substitution T A 3_prime_UTR_variant BRCA-EU 2 200261428 200261428 single base substitution T A intron_variant BRCA-EU 2 200261582 200261582 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 200261582 200261582 single base substitution G A intron_variant BRCA-EU 2 200262001 200262001 single base substitution G C intron_variant BRCA-EU 2 200262570 200262570 single base substitution G A intron_variant BRCA-EU 2 200262570 200262570 single base substitution G A splice_region_variant BRCA-EU 2 200262578 200262578 single base substitution G C intron_variant BRCA-EU 2 200262888 200262888 single base substitution T A intron_variant BRCA-EU 2 200262990 200262990 single base substitution A G intron_variant BRCA-EU 2 200263885 200263885 single base substitution C T intron_variant BRCA-EU 2 200263984 200263984 single base substitution G C intron_variant BRCA-EU 2 200264043 200264043 single base substitution G C intron_variant BRCA-EU 2 200264626 200264626 single base substitution G A intron_variant BRCA-EU 2 200266256 200266256 single base substitution C G intron_variant BRCA-EU 2 200266485 200266485 single base substitution C T intron_variant BRCA-EU 2 200266512 200266512 single base substitution G A intron_variant BRCA-EU 2 200271012 200271012 single base substitution C A intron_variant BRCA-EU 2 200271917 200271917 single base substitution G C intron_variant BRCA-EU 2 200272419 200272419 single base substitution C G intron_variant BRCA-EU 2 200273226 200273226 single base substitution G C intron_variant BRCA-EU 2 200273299 200273299 single base substitution G A intron_variant BRCA-EU 2 200275263 200275263 insertion of <=200bp - A intron_variant BRCA-EU 2 200275630 200275630 deletion of <=200bp T - intron_variant BRCA-EU 2 200276027 200276027 single base substitution G C intron_variant BRCA-EU 2 200277239 200277239 single base substitution C T intron_variant BRCA-EU 2 200280282 200280282 single base substitution T A intron_variant BRCA-EU 2 200280331 200280331 single base substitution G C intron_variant BRCA-EU 2 200280404 200280404 single base substitution G A intron_variant BRCA-EU 2 200280431 200280431 single base substitution C T intron_variant BRCA-EU 2 200280568 200280568 single base substitution C A intron_variant BRCA-EU 2 200280603 200280603 single base substitution A T intron_variant BRCA-EU 2 200280824 200280824 single base substitution T A intron_variant BRCA-EU 2 200283052 200283052 single base substitution G C intron_variant BRCA-EU 2 200284658 200284658 single base substitution A G intron_variant BRCA-EU 2 200285309 200285309 single base substitution G T intron_variant BRCA-EU 2 200285476 200285476 single base substitution T C intron_variant BRCA-EU 2 200285508 200285508 single base substitution A G intron_variant BRCA-EU 2 200285936 200285936 single base substitution A G intron_variant BRCA-EU 2 200286378 200286378 single base substitution G C intron_variant BRCA-EU 2 200286939 200286939 single base substitution G A intron_variant BRCA-EU 2 200287029 200287029 single base substitution T A intron_variant BRCA-EU 2 200287101 200287101 single base substitution G C intron_variant BRCA-EU 2 200287831 200287831 single base substitution G A intron_variant BRCA-EU 2 200287851 200287851 single base substitution C T intron_variant BRCA-EU 2 200288018 200288018 single base substitution T G intron_variant BRCA-EU 2 200288534 200288534 single base substitution G A exon_variant BRCA-EU 2 200288534 200288534 single base substitution G A intron_variant BRCA-EU 2 200288726 200288726 single base substitution T C intron_variant BRCA-EU 2 200288726 200288726 single base substitution T C upstream_gene_variant BRCA-EU 2 200289968 200289968 single base substitution C A intron_variant BRCA-EU 2 200289968 200289968 single base substitution C A upstream_gene_variant BRCA-EU 2 200290206 200290206 deletion of <=200bp T - intron_variant BRCA-EU 2 200290206 200290206 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 200291501 200291501 single base substitution T A intron_variant BRCA-EU 2 200291501 200291501 single base substitution T A upstream_gene_variant BRCA-EU 2 200292036 200292036 single base substitution A G intron_variant BRCA-EU 2 200292036 200292036 single base substitution A G upstream_gene_variant BRCA-EU 2 200292536 200292536 single base substitution C A intron_variant BRCA-EU 2 200292536 200292536 single base substitution C A upstream_gene_variant BRCA-EU 2 200292743 200292743 single base substitution G A intron_variant BRCA-EU 2 200292743 200292743 single base substitution G A upstream_gene_variant BRCA-EU 2 200292937 200292937 single base substitution A G intron_variant BRCA-EU 2 200292937 200292937 single base substitution A G upstream_gene_variant BRCA-EU 2 200293132 200293132 single base substitution A T intron_variant BRCA-EU 2 200293132 200293132 single base substitution A T upstream_gene_variant BRCA-EU 2 200293242 200293242 single base substitution T C intron_variant BRCA-EU 2 200293242 200293242 single base substitution T C upstream_gene_variant BRCA-EU 2 200293432 200293432 single base substitution G C intron_variant BRCA-EU 2 200293432 200293432 single base substitution G C upstream_gene_variant BRCA-EU 2 200293521 200293521 single base substitution G A intron_variant BRCA-EU 2 200293521 200293521 single base substitution G A upstream_gene_variant BRCA-EU 2 200293592 200293592 single base substitution G C intron_variant BRCA-EU 2 200293592 200293592 single base substitution G C upstream_gene_variant BRCA-EU 2 200294277 200294277 single base substitution G C intron_variant BRCA-EU 2 200295645 200295645 single base substitution G C intron_variant BRCA-EU 2 200296462 200296462 single base substitution C G intron_variant BRCA-EU 2 200298408 200298408 single base substitution C G intron_variant BRCA-EU 2 200300141 200300141 single base substitution G A intron_variant BRCA-EU 2 200300961 200300961 single base substitution G T intron_variant BRCA-EU 2 200302539 200302539 deletion of <=200bp T - intron_variant BRCA-EU 2 200303714 200303714 single base substitution G A intron_variant BRCA-EU 2 200305228 200305228 single base substitution T C intron_variant BRCA-EU 2 200306016 200306016 single base substitution G C intron_variant BRCA-EU 2 200306127 200306127 single base substitution A G intron_variant BRCA-EU 2 200306244 200306244 single base substitution G A intron_variant BRCA-EU 2 200306744 200306744 single base substitution G C intron_variant BRCA-EU 2 200307697 200307697 single base substitution G C intron_variant BRCA-EU 2 200307971 200307971 insertion of <=200bp - A intron_variant BRCA-EU 2 200308367 200308367 single base substitution G C intron_variant BRCA-EU 2 200308815 200308815 deletion of <=200bp T - intron_variant BRCA-EU 2 200309736 200309736 single base substitution C T intron_variant BRCA-EU 2 200310428 200310428 single base substitution G C intron_variant BRCA-EU 2 200311207 200311207 deletion of <=200bp A - intron_variant BRCA-EU 2 200311207 200311207 insertion of <=200bp - A intron_variant BRCA-EU 2 200311562 200311562 single base substitution C G intron_variant BRCA-EU 2 200312296 200312296 deletion of <=200bp A - intron_variant BRCA-EU 2 200314381 200314381 single base substitution A T intron_variant BRCA-EU 2 200314428 200314428 single base substitution A G intron_variant BRCA-EU 2 200314871 200314871 single base substitution G A intron_variant BRCA-EU 2 200315240 200315240 insertion of <=200bp - AAAT intron_variant BRCA-EU 2 200315539 200315539 single base substitution T C intron_variant BRCA-EU 2 200316061 200316061 single base substitution A T downstream_gene_variant BRCA-EU 2 200316061 200316061 single base substitution A T intron_variant BRCA-EU 2 200316625 200316625 single base substitution G T downstream_gene_variant BRCA-EU 2 200316625 200316625 single base substitution G T intron_variant BRCA-EU 2 200316783 200316783 single base substitution T A downstream_gene_variant BRCA-EU 2 200316783 200316783 single base substitution T A intron_variant BRCA-EU 2 200317120 200317120 single base substitution G T downstream_gene_variant BRCA-EU 2 200317120 200317120 single base substitution G T intron_variant BRCA-EU 2 200317803 200317803 single base substitution C T downstream_gene_variant BRCA-EU 2 200317803 200317803 single base substitution C T intron_variant BRCA-EU 2 200318269 200318269 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 200318269 200318269 deletion of <=200bp A - intron_variant BRCA-EU 2 200318496 200318496 single base substitution T C downstream_gene_variant BRCA-EU 2 200318496 200318496 single base substitution T C intron_variant BRCA-EU 2 200318501 200318501 single base substitution A G downstream_gene_variant BRCA-EU 2 200318501 200318501 single base substitution A G intron_variant BRCA-EU 2 200319183 200319183 single base substitution C T downstream_gene_variant BRCA-EU 2 200319183 200319183 single base substitution C T intron_variant BRCA-EU 2 200319373 200319373 single base substitution G C downstream_gene_variant BRCA-EU 2 200319373 200319373 single base substitution G C intron_variant BRCA-EU 2 200320704 200320704 single base substitution G A downstream_gene_variant BRCA-EU 2 200320704 200320704 single base substitution G A exon_variant BRCA-EU 2 200320704 200320704 single base substitution G A synonymous_variant G19G 57C>T BRCA-EU 2 200322468 200322468 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 200322468 200322468 single base substitution G A intron_variant BRCA-EU 2 200322468 200322468 single base substitution G A upstream_gene_variant BRCA-EU 2 200323099 200323099 single base substitution G T 5_prime_UTR_variant BRCA-EU 2 200323099 200323099 single base substitution G T intron_variant BRCA-EU 2 200323099 200323099 single base substitution G T upstream_gene_variant BRCA-EU 2 200323168 200323168 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 200323168 200323168 single base substitution G C intron_variant BRCA-EU 2 200323168 200323168 single base substitution G C upstream_gene_variant BRCA-EU 2 200326328 200326328 single base substitution G A intron_variant BRCA-EU 2 200326328 200326328 single base substitution G A upstream_gene_variant BRCA-EU 2 200328705 200328705 single base substitution G C intron_variant BRCA-EU 2 200328782 200328782 single base substitution G A intron_variant BRCA-EU 2 200330787 200330787 single base substitution C T intron_variant BRCA-EU 2 200330787 200330787 single base substitution C T upstream_gene_variant BRCA-EU 2 200331299 200331299 single base substitution A C intron_variant BRCA-EU 2 200331299 200331299 single base substitution A C upstream_gene_variant BRCA-EU 2 200331436 200331436 single base substitution G T intron_variant BRCA-EU 2 200331436 200331436 single base substitution G T upstream_gene_variant BRCA-EU 2 200332675 200332675 deletion of <=200bp C - intron_variant BRCA-EU 2 200332675 200332675 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 200333182 200333182 single base substitution C G intron_variant BRCA-EU 2 200333182 200333182 single base substitution C G upstream_gene_variant BRCA-EU 2 200333823 200333823 single base substitution G A intron_variant BRCA-EU 2 200333823 200333823 single base substitution G A upstream_gene_variant BRCA-EU 2 200334322 200334322 single base substitution T C intron_variant BRCA-EU 2 200334322 200334322 single base substitution T C upstream_gene_variant BRCA-EU 2 200334720 200334720 single base substitution G A intron_variant BRCA-EU 2 200334720 200334720 single base substitution G A upstream_gene_variant BRCA-EU 2 200335168 200335168 single base substitution G C intron_variant BRCA-EU 2 200335644 200335644 single base substitution C A intron_variant BRCA-EU 2 200337694 200337694 single base substitution C T upstream_gene_variant BRCA-EU 2 200338505 200338505 single base substitution G A upstream_gene_variant BRCA-EU 2 200339412 200339412 single base substitution A G upstream_gene_variant BRCA-EU 2 200339711 200339711 single base substitution G A upstream_gene_variant BRCA-EU 2 200340075 200340075 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 200340923 200340923 single base substitution G A upstream_gene_variant BRCA-FR 2 200137156 200137156 single base substitution G A synonymous_variant I542I 1626C>T BRCA-FR 2 200137156 200137156 single base substitution G A synonymous_variant I601I 1803C>T BRCA-FR 2 200137156 200137156 single base substitution G A synonymous_variant I660I 1980C>T BRCA-FR 2 200137176 200137176 single base substitution G C missense_variant L536V 1606C>G BRCA-FR 2 200137176 200137176 single base substitution G C missense_variant L595V 1783C>G BRCA-FR 2 200137176 200137176 single base substitution G C missense_variant L654V 1960C>G BRCA-FR 2 200137376 200137376 single base substitution G C missense_variant S469C 1406C>G BRCA-FR 2 200137376 200137376 single base substitution G C missense_variant S528C 1583C>G BRCA-FR 2 200137376 200137376 single base substitution G C missense_variant S587C 1760C>G BRCA-FR 2 200137971 200137971 single base substitution G A intron_variant BRCA-FR 2 200144731 200144731 single base substitution G T intron_variant BRCA-FR 2 200150456 200150456 single base substitution A G intron_variant BRCA-FR 2 200150774 200150774 single base substitution C G intron_variant BRCA-FR 2 200151925 200151925 single base substitution A G intron_variant BRCA-FR 2 200153342 200153342 single base substitution C T intron_variant BRCA-FR 2 200154854 200154854 single base substitution G A intron_variant BRCA-FR 2 200161890 200161890 single base substitution C A intron_variant BRCA-FR 2 200165059 200165059 single base substitution A C intron_variant BRCA-FR 2 200165571 200165571 single base substitution C G intron_variant BRCA-FR 2 200168119 200168119 single base substitution G A intron_variant BRCA-FR 2 200174063 200174063 single base substitution T C intron_variant BRCA-FR 2 200175149 200175149 single base substitution G A intron_variant BRCA-FR 2 200180910 200180910 single base substitution G A intron_variant BRCA-FR 2 200188824 200188824 single base substitution C T intron_variant BRCA-FR 2 200196743 200196743 single base substitution G A intron_variant BRCA-FR 2 200196743 200196743 single base substitution G A upstream_gene_variant BRCA-FR 2 200197914 200197914 single base substitution C T intron_variant BRCA-FR 2 200197914 200197914 single base substitution C T upstream_gene_variant BRCA-FR 2 200199078 200199078 single base substitution C A intron_variant BRCA-FR 2 200199094 200199094 single base substitution T C intron_variant BRCA-FR 2 200201796 200201796 single base substitution C G intron_variant BRCA-FR 2 200208543 200208543 single base substitution C G downstream_gene_variant BRCA-FR 2 200208543 200208543 single base substitution C G intron_variant BRCA-FR 2 200210933 200210933 single base substitution C T downstream_gene_variant BRCA-FR 2 200210933 200210933 single base substitution C T intron_variant BRCA-FR 2 200211551 200211551 single base substitution G A downstream_gene_variant BRCA-FR 2 200211551 200211551 single base substitution G A intron_variant BRCA-FR 2 200215901 200215901 single base substitution T A intron_variant BRCA-FR 2 200216189 200216189 single base substitution T G intron_variant BRCA-FR 2 200223950 200223950 single base substitution C G intron_variant BRCA-FR 2 200225077 200225077 single base substitution C A intron_variant BRCA-FR 2 200236591 200236591 single base substitution G A intron_variant BRCA-FR 2 200236591 200236591 single base substitution G A upstream_gene_variant BRCA-FR 2 200238474 200238474 single base substitution T C intron_variant BRCA-FR 2 200238474 200238474 single base substitution T C upstream_gene_variant BRCA-FR 2 200243335 200243335 single base substitution C T intron_variant BRCA-FR 2 200247034 200247034 single base substitution C T intron_variant BRCA-FR 2 200256886 200256886 single base substitution G A downstream_gene_variant BRCA-FR 2 200256886 200256886 single base substitution G A intron_variant BRCA-FR 2 200257682 200257682 single base substitution C T downstream_gene_variant BRCA-FR 2 200257682 200257682 single base substitution C T intron_variant BRCA-FR 2 200258151 200258151 single base substitution C T downstream_gene_variant BRCA-FR 2 200258151 200258151 single base substitution C T intron_variant BRCA-FR 2 200260765 200260765 single base substitution G A 3_prime_UTR_variant BRCA-FR 2 200260765 200260765 single base substitution G A intron_variant BRCA-FR 2 200261348 200261348 single base substitution C A 3_prime_UTR_variant BRCA-FR 2 200261348 200261348 single base substitution C A intron_variant BRCA-FR 2 200261880 200261880 single base substitution T G intron_variant BRCA-FR 2 200265850 200265850 single base substitution C G intron_variant BRCA-FR 2 200266256 200266256 single base substitution C G intron_variant BRCA-FR 2 200266969 200266969 single base substitution G A intron_variant BRCA-FR 2 200276027 200276027 single base substitution G C intron_variant BRCA-FR 2 200293521 200293521 single base substitution G A intron_variant BRCA-FR 2 200293521 200293521 single base substitution G A upstream_gene_variant BRCA-FR 2 200305559 200305559 single base substitution C A intron_variant BRCA-FR 2 200308367 200308367 single base substitution G C intron_variant BRCA-FR 2 200315539 200315539 single base substitution T C intron_variant BRCA-FR 2 200317120 200317120 single base substitution G T downstream_gene_variant BRCA-FR 2 200317120 200317120 single base substitution G T intron_variant BRCA-FR 2 200322468 200322468 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 2 200322468 200322468 single base substitution G A intron_variant BRCA-FR 2 200322468 200322468 single base substitution G A upstream_gene_variant BRCA-FR 2 200337056 200337056 single base substitution T G upstream_gene_variant BRCA-FR 2 200337694 200337694 single base substitution C T upstream_gene_variant BRCA-UK 2 200168044 200168044 single base substitution A C intron_variant BRCA-UK 2 200171876 200171876 single base substitution G A downstream_gene_variant BRCA-UK 2 200171876 200171876 single base substitution G A intron_variant BRCA-UK 2 200188636 200188636 single base substitution C T exon_variant BRCA-UK 2 200188636 200188636 single base substitution C T missense_variant G360S 1078G>A BRCA-UK 2 200188636 200188636 single base substitution C T missense_variant G419S 1255G>A BRCA-UK 2 200188636 200188636 single base substitution C T missense_variant G478S 1432G>A BRCA-UK 2 200189934 200189934 single base substitution T A intron_variant BRCA-UK 2 200200748 200200748 single base substitution G A intron_variant BRCA-UK 2 200225612 200225612 single base substitution C A intron_variant BRCA-UK 2 200233226 200233226 single base substitution T G downstream_gene_variant BRCA-UK 2 200233226 200233226 single base substitution T G intron_variant BRCA-UK 2 200239707 200239707 single base substitution C A intron_variant BRCA-UK 2 200256082 200256082 single base substitution G A downstream_gene_variant BRCA-UK 2 200256082 200256082 single base substitution G A intron_variant BRCA-UK 2 200257916 200257916 single base substitution G C downstream_gene_variant BRCA-UK 2 200257916 200257916 single base substitution G C intron_variant BRCA-UK 2 200262001 200262001 single base substitution G C intron_variant BRCA-UK 2 200276567 200276567 single base substitution G A intron_variant BRCA-UK 2 200286378 200286378 single base substitution G C intron_variant BRCA-UK 2 200316870 200316870 single base substitution C G downstream_gene_variant BRCA-UK 2 200316870 200316870 single base substitution C G intron_variant BRCA-US 2 200137064 200137064 single base substitution T A missense_variant D573V 1718A>T BRCA-US 2 200137064 200137064 single base substitution T A missense_variant D632V 1895A>T BRCA-US 2 200137064 200137064 single base substitution T A missense_variant D691V 2072A>T BRCA-US 2 200137254 200137254 single base substitution T A missense_variant I510F 1528A>T BRCA-US 2 200137254 200137254 single base substitution T A missense_variant I569F 1705A>T BRCA-US 2 200137254 200137254 single base substitution T A missense_variant I628F 1882A>T BRCA-US 2 200137283 200137283 single base substitution C T missense_variant R500H 1499G>A BRCA-US 2 200137283 200137283 single base substitution C T missense_variant R559H 1676G>A BRCA-US 2 200137283 200137283 single base substitution C T missense_variant R618H 1853G>A BRCA-US 2 200173524 200173524 single base substitution G A downstream_gene_variant BRCA-US 2 200173524 200173524 single base substitution G A missense_variant R449C 1345C>T BRCA-US 2 200173524 200173524 single base substitution G A missense_variant R508C 1522C>T BRCA-US 2 200173524 200173524 single base substitution G A missense_variant R567C 1699C>T BRCA-US 2 200173558 200173558 single base substitution G C downstream_gene_variant BRCA-US 2 200173558 200173558 single base substitution G C missense_variant I437M 1311C>G BRCA-US 2 200173558 200173558 single base substitution G C missense_variant I496M 1488C>G BRCA-US 2 200173558 200173558 single base substitution G C missense_variant I555M 1665C>G BRCA-US 2 200188564 200188564 single base substitution G C exon_variant BRCA-US 2 200188564 200188564 single base substitution G C missense_variant Q384E 1150C>G BRCA-US 2 200188564 200188564 single base substitution G C missense_variant Q443E 1327C>G BRCA-US 2 200188564 200188564 single base substitution G C missense_variant Q502E 1504C>G BRCA-US 2 200193423 200193423 single base substitution G A splice_region_variant BRCA-US 2 200193423 200193423 single base substitution G A stop_gained Q344* 1030C>T BRCA-US 2 200193423 200193423 single base substitution G A stop_gained Q403* 1207C>T BRCA-US 2 200193423 200193423 single base substitution G A stop_gained Q462* 1384C>T BTCA-JP 2 200136921 200136921 single base substitution G T 3_prime_UTR_variant BTCA-JP 2 200193573 200193573 single base substitution G A exon_variant BTCA-JP 2 200193573 200193573 single base substitution G A synonymous_variant L294L 880C>T BTCA-JP 2 200193573 200193573 single base substitution G A synonymous_variant L353L 1057C>T BTCA-JP 2 200193573 200193573 single base substitution G A synonymous_variant L412L 1234C>T BTCA-JP 2 200193649 200193649 deletion of <=200bp A - exon_variant BTCA-JP 2 200193649 200193649 deletion of <=200bp A - intron_variant BTCA-JP 2 200213431 200213431 single base substitution C T exon_variant BTCA-JP 2 200213431 200213431 single base substitution C T missense_variant R271H 812G>A BTCA-JP 2 200213431 200213431 single base substitution C T missense_variant R330H 989G>A BTCA-JP 2 200213431 200213431 single base substitution C T missense_variant R389H 1166G>A BTCA-JP 2 200213858 200213858 single base substitution C A exon_variant BTCA-JP 2 200213858 200213858 single base substitution C A missense_variant V129F 385G>T BTCA-JP 2 200213858 200213858 single base substitution C A missense_variant V188F 562G>T BTCA-JP 2 200213858 200213858 single base substitution C A missense_variant V247F 739G>T BTCA-JP 2 200233434 200233434 deletion of <=200bp A - exon_variant BTCA-JP 2 200233434 200233434 deletion of <=200bp A - intron_variant BTCA-JP 2 200233434 200233434 deletion of <=200bp A - splice_region_variant BTCA-JP 2 200246484 200246484 single base substitution C T exon_variant BTCA-JP 2 200246484 200246484 single base substitution C T intron_variant BTCA-JP 2 200246484 200246484 single base substitution C T missense_variant D136N 406G>A BTCA-JP 2 200246484 200246484 single base substitution C T missense_variant D77N 229G>A BTCA-JP 2 200298164 200298164 single base substitution G A exon_variant BTCA-JP 2 200298164 200298164 single base substitution G A intron_variant BTCA-JP 2 200298164 200298164 single base substitution G A synonymous_variant H81H 243C>T BTCA-JP 2 200323184 200323184 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 2 200323184 200323184 single base substitution G C intron_variant BTCA-JP 2 200323184 200323184 single base substitution G C upstream_gene_variant CESC-US 2 200173588 200173588 single base substitution C A exon_variant CESC-US 2 200173588 200173588 single base substitution C A synonymous_variant L427L 1281G>T CESC-US 2 200173588 200173588 single base substitution C A synonymous_variant L486L 1458G>T CESC-US 2 200173588 200173588 single base substitution C A synonymous_variant L545L 1635G>T CESC-US 2 200213501 200213501 single base substitution G A exon_variant CESC-US 2 200213501 200213501 single base substitution G A stop_gained Q248* 742C>T CESC-US 2 200213501 200213501 single base substitution G A stop_gained Q307* 919C>T CESC-US 2 200213501 200213501 single base substitution G A stop_gained Q366* 1096C>T CESC-US 2 200298085 200298085 single base substitution G C exon_variant CESC-US 2 200298085 200298085 single base substitution G C intron_variant CESC-US 2 200298085 200298085 single base substitution G C missense_variant H108D 322C>G CLLE-ES 2 200134303 200134303 single base substitution T A 3_prime_UTR_variant CLLE-ES 2 200134303 200134303 single base substitution T A downstream_gene_variant CLLE-ES 2 200150781 200150781 single base substitution C G intron_variant CLLE-ES 2 200172371 200172371 single base substitution C A downstream_gene_variant CLLE-ES 2 200172371 200172371 single base substitution C A intron_variant CLLE-ES 2 200174886 200174886 single base substitution G A intron_variant CLLE-ES 2 200192961 200192961 single base substitution G A intron_variant CLLE-ES 2 200193039 200193039 single base substitution G A intron_variant CLLE-ES 2 200202614 200202614 single base substitution C T intron_variant CLLE-ES 2 200206995 200206995 single base substitution T G downstream_gene_variant CLLE-ES 2 200206995 200206995 single base substitution T G intron_variant CLLE-ES 2 200207949 200207949 single base substitution T C downstream_gene_variant CLLE-ES 2 200207949 200207949 single base substitution T C intron_variant CLLE-ES 2 200208891 200208891 single base substitution G A downstream_gene_variant CLLE-ES 2 200208891 200208891 single base substitution G A intron_variant CLLE-ES 2 200212762 200212762 single base substitution G C exon_variant CLLE-ES 2 200212762 200212762 single base substitution G C intron_variant CLLE-ES 2 200214838 200214838 single base substitution T C intron_variant CLLE-ES 2 200220825 200220825 single base substitution T A intron_variant CLLE-ES 2 200229083 200229083 single base substitution C A downstream_gene_variant CLLE-ES 2 200229083 200229083 single base substitution C A intron_variant CLLE-ES 2 200232591 200232591 single base substitution T C downstream_gene_variant CLLE-ES 2 200232591 200232591 single base substitution T C intron_variant CLLE-ES 2 200237105 200237105 single base substitution A G intron_variant CLLE-ES 2 200237105 200237105 single base substitution A G upstream_gene_variant CLLE-ES 2 200244968 200244968 single base substitution C T intron_variant CLLE-ES 2 200253241 200253241 single base substitution G A intron_variant CLLE-ES 2 200255244 200255244 single base substitution A G intron_variant CLLE-ES 2 200264097 200264097 single base substitution G A intron_variant CLLE-ES 2 200265598 200265598 single base substitution A T intron_variant CLLE-ES 2 200281156 200281156 single base substitution A G intron_variant CLLE-ES 2 200283271 200283271 single base substitution T A intron_variant CLLE-ES 2 200293337 200293337 single base substitution C T intron_variant CLLE-ES 2 200293337 200293337 single base substitution C T upstream_gene_variant CLLE-ES 2 200299885 200299885 single base substitution A C intron_variant CLLE-ES 2 200304934 200304934 single base substitution A G intron_variant CLLE-ES 2 200315154 200315154 single base substitution T C intron_variant CLLE-ES 2 200325102 200325102 single base substitution G A intron_variant CLLE-ES 2 200325102 200325102 single base substitution G A upstream_gene_variant CLLE-ES 2 200327721 200327721 single base substitution T A intron_variant CLLE-ES 2 200327721 200327721 single base substitution T A upstream_gene_variant CLLE-ES 2 200334833 200334833 single base substitution G A intron_variant CLLE-ES 2 200334833 200334833 single base substitution G A upstream_gene_variant COAD-US 2 200137115 200137115 single base substitution C A missense_variant G556V 1667G>T COAD-US 2 200137115 200137115 single base substitution C A missense_variant G615V 1844G>T COAD-US 2 200137115 200137115 single base substitution C A missense_variant G674V 2021G>T COAD-US 2 200137245 200137245 single base substitution T A missense_variant S513C 1537A>T COAD-US 2 200137245 200137245 single base substitution T A missense_variant S572C 1714A>T COAD-US 2 200137245 200137245 single base substitution T A missense_variant S631C 1891A>T COAD-US 2 200137318 200137318 single base substitution C T synonymous_variant P488P 1464G>A COAD-US 2 200137318 200137318 single base substitution C T synonymous_variant P547P 1641G>A COAD-US 2 200137318 200137318 single base substitution C T synonymous_variant P606P 1818G>A COAD-US 2 200193449 200193449 single base substitution C T exon_variant COAD-US 2 200193449 200193449 single base substitution C T missense_variant S335N 1004G>A COAD-US 2 200193449 200193449 single base substitution C T missense_variant S394N 1181G>A COAD-US 2 200193449 200193449 single base substitution C T missense_variant S453N 1358G>A COAD-US 2 200193581 200193581 single base substitution T C exon_variant COAD-US 2 200193581 200193581 single base substitution T C missense_variant Q291R 872A>G COAD-US 2 200193581 200193581 single base substitution T C missense_variant Q350R 1049A>G COAD-US 2 200193581 200193581 single base substitution T C missense_variant Q409R 1226A>G COAD-US 2 200213792 200213792 single base substitution C T exon_variant COAD-US 2 200213792 200213792 single base substitution C T missense_variant E151K 451G>A COAD-US 2 200213792 200213792 single base substitution C T missense_variant E210K 628G>A COAD-US 2 200213792 200213792 single base substitution C T missense_variant E269K 805G>A COAD-US 2 200213812 200213812 single base substitution G A exon_variant COAD-US 2 200213812 200213812 single base substitution G A missense_variant A144V 431C>T COAD-US 2 200213812 200213812 single base substitution G A missense_variant A203V 608C>T COAD-US 2 200213812 200213812 single base substitution G A missense_variant A262V 785C>T COAD-US 2 200245104 200245104 single base substitution C T exon_variant COAD-US 2 200245104 200245104 single base substitution C T intron_variant COAD-US 2 200245104 200245104 single base substitution C T missense_variant E135K 403G>A COAD-US 2 200245104 200245104 single base substitution C T missense_variant E194K 580G>A COCA-CN 2 200137027 200137027 single base substitution G A synonymous_variant S585S 1755C>T COCA-CN 2 200137027 200137027 single base substitution G A synonymous_variant S644S 1932C>T COCA-CN 2 200137027 200137027 single base substitution G A synonymous_variant S703S 2109C>T COCA-CN 2 200137062 200137062 single base substitution C T missense_variant E574K 1720G>A COCA-CN 2 200137062 200137062 single base substitution C T missense_variant E633K 1897G>A COCA-CN 2 200137062 200137062 single base substitution C T missense_variant E692K 2074G>A COCA-CN 2 200193545 200193545 single base substitution A G exon_variant COCA-CN 2 200193545 200193545 single base substitution A G missense_variant F303S 908T>C COCA-CN 2 200193545 200193545 single base substitution A G missense_variant F362S 1085T>C COCA-CN 2 200193545 200193545 single base substitution A G missense_variant F421S 1262T>C COCA-CN 2 200213486 200213486 single base substitution C A exon_variant COCA-CN 2 200213486 200213486 single base substitution C A stop_gained E253* 757G>T COCA-CN 2 200213486 200213486 single base substitution C A stop_gained E312* 934G>T COCA-CN 2 200213486 200213486 single base substitution C A stop_gained E371* 1111G>T COCA-CN 2 200233475 200233475 single base substitution C A exon_variant COCA-CN 2 200233475 200233475 single base substitution C A intron_variant COCA-CN 2 200340235 200340235 single base substitution T A upstream_gene_variant EOPC-DE 2 200192172 200192172 single base substitution A G intron_variant EOPC-DE 2 200217389 200217389 single base substitution A C intron_variant EOPC-DE 2 200281974 200281974 single base substitution G C intron_variant EOPC-DE 2 200312948 200312948 single base substitution T C intron_variant ESAD-UK 2 200129774 200129774 single base substitution T G downstream_gene_variant ESAD-UK 2 200130572 200130572 single base substitution C T downstream_gene_variant ESAD-UK 2 200130708 200130708 single base substitution A C downstream_gene_variant ESAD-UK 2 200131024 200131024 single base substitution T G downstream_gene_variant ESAD-UK 2 200131838 200131838 single base substitution T G downstream_gene_variant ESAD-UK 2 200132401 200132401 single base substitution G T downstream_gene_variant ESAD-UK 2 200133138 200133138 single base substitution C T downstream_gene_variant ESAD-UK 2 200133246 200133246 single base substitution A C downstream_gene_variant ESAD-UK 2 200133644 200133644 single base substitution T A downstream_gene_variant ESAD-UK 2 200133751 200133751 single base substitution T C downstream_gene_variant ESAD-UK 2 200133862 200133862 single base substitution A G downstream_gene_variant ESAD-UK 2 200134499 200134499 single base substitution T A 3_prime_UTR_variant ESAD-UK 2 200134499 200134499 single base substitution T A downstream_gene_variant ESAD-UK 2 200134894 200134894 single base substitution C A 3_prime_UTR_variant ESAD-UK 2 200134894 200134894 single base substitution C A downstream_gene_variant ESAD-UK 2 200134928 200134928 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 200134928 200134928 single base substitution T C downstream_gene_variant ESAD-UK 2 200135256 200135256 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 200135256 200135256 single base substitution C T downstream_gene_variant ESAD-UK 2 200135529 200135529 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 200135529 200135529 single base substitution G C downstream_gene_variant ESAD-UK 2 200136089 200136089 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 200136089 200136089 single base substitution C T downstream_gene_variant ESAD-UK 2 200136410 200136410 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 200136410 200136410 single base substitution A G downstream_gene_variant ESAD-UK 2 200136491 200136491 insertion of <=200bp - AT 3_prime_UTR_variant ESAD-UK 2 200136491 200136491 insertion of <=200bp - AT downstream_gene_variant ESAD-UK 2 200137098 200137098 single base substitution G A synonymous_variant L562L 1684C>T ESAD-UK 2 200137098 200137098 single base substitution G A synonymous_variant L621L 1861C>T ESAD-UK 2 200137098 200137098 single base substitution G A synonymous_variant L680L 2038C>T ESAD-UK 2 200137249 200137249 single base substitution G A synonymous_variant L511L 1533C>T ESAD-UK 2 200137249 200137249 single base substitution G A synonymous_variant L570L 1710C>T ESAD-UK 2 200137249 200137249 single base substitution G A synonymous_variant L629L 1887C>T ESAD-UK 2 200137375 200137375 single base substitution A G synonymous_variant S469S 1407T>C ESAD-UK 2 200137375 200137375 single base substitution A G synonymous_variant S528S 1584T>C ESAD-UK 2 200137375 200137375 single base substitution A G synonymous_variant S587S 1761T>C ESAD-UK 2 200137416 200137416 single base substitution A G intron_variant ESAD-UK 2 200137758 200137758 single base substitution A G intron_variant ESAD-UK 2 200137802 200137802 single base substitution T G intron_variant ESAD-UK 2 200138086 200138086 single base substitution T G intron_variant ESAD-UK 2 200139716 200139716 single base substitution G T intron_variant ESAD-UK 2 200139934 200139934 single base substitution T G intron_variant ESAD-UK 2 200140186 200140186 single base substitution A G intron_variant ESAD-UK 2 200140384 200140384 single base substitution A G intron_variant ESAD-UK 2 200140794 200140794 single base substitution C A intron_variant ESAD-UK 2 200140857 200140857 single base substitution G A intron_variant ESAD-UK 2 200141327 200141327 single base substitution G T intron_variant ESAD-UK 2 200141387 200141387 single base substitution T C intron_variant ESAD-UK 2 200142577 200142577 single base substitution T C intron_variant ESAD-UK 2 200142717 200142717 single base substitution A C intron_variant ESAD-UK 2 200144103 200144103 single base substitution G A intron_variant ESAD-UK 2 200144755 200144755 single base substitution T A intron_variant ESAD-UK 2 200144818 200144818 single base substitution C T intron_variant ESAD-UK 2 200144868 200144868 deletion of <=200bp T - intron_variant ESAD-UK 2 200144880 200144880 single base substitution T G intron_variant ESAD-UK 2 200145976 200145979 deletion of <=200bp TGTA - intron_variant ESAD-UK 2 200146854 200146854 single base substitution T A intron_variant ESAD-UK 2 200146907 200146907 single base substitution A G intron_variant ESAD-UK 2 200146986 200146986 single base substitution T G intron_variant ESAD-UK 2 200147777 200147777 single base substitution C A intron_variant ESAD-UK 2 200148177 200148177 single base substitution C T intron_variant ESAD-UK 2 200148647 200148647 single base substitution T G intron_variant ESAD-UK 2 200148765 200148765 single base substitution G C intron_variant ESAD-UK 2 200149167 200149167 single base substitution A C intron_variant ESAD-UK 2 200149383 200149383 single base substitution T C intron_variant ESAD-UK 2 200150397 200150397 single base substitution G T intron_variant ESAD-UK 2 200151160 200151160 single base substitution C T intron_variant ESAD-UK 2 200152084 200152084 deletion of <=200bp A - intron_variant ESAD-UK 2 200152310 200152310 insertion of <=200bp - G intron_variant ESAD-UK 2 200153352 200153352 single base substitution T G intron_variant ESAD-UK 2 200153532 200153532 single base substitution A G intron_variant ESAD-UK 2 200153549 200153549 single base substitution A C intron_variant ESAD-UK 2 200153549 200153549 single base substitution A G intron_variant ESAD-UK 2 200155087 200155087 single base substitution T C intron_variant ESAD-UK 2 200155108 200155108 single base substitution T G intron_variant ESAD-UK 2 200155727 200155727 single base substitution A C intron_variant ESAD-UK 2 200156264 200156264 single base substitution A G intron_variant ESAD-UK 2 200156390 200156390 single base substitution C T intron_variant ESAD-UK 2 200156775 200156775 single base substitution G C intron_variant ESAD-UK 2 200157699 200157699 single base substitution A T intron_variant ESAD-UK 2 200157740 200157740 single base substitution A T intron_variant ESAD-UK 2 200157776 200157776 single base substitution A G intron_variant ESAD-UK 2 200159107 200159107 single base substitution A C intron_variant ESAD-UK 2 200159422 200159422 deletion of <=200bp A - intron_variant ESAD-UK 2 200159502 200159502 single base substitution T G intron_variant ESAD-UK 2 200159782 200159782 single base substitution A C intron_variant ESAD-UK 2 200159831 200159831 single base substitution A C intron_variant ESAD-UK 2 200160005 200160005 single base substitution T C intron_variant ESAD-UK 2 200160029 200160029 single base substitution T G intron_variant ESAD-UK 2 200160324 200160324 single base substitution A G intron_variant ESAD-UK 2 200160691 200160691 insertion of <=200bp - G intron_variant ESAD-UK 2 200160982 200160982 deletion of <=200bp T - intron_variant ESAD-UK 2 200161163 200161163 single base substitution C G intron_variant ESAD-UK 2 200161181 200161181 single base substitution A G intron_variant ESAD-UK 2 200161414 200161414 single base substitution C A intron_variant ESAD-UK 2 200161528 200161528 single base substitution T A intron_variant ESAD-UK 2 200161807 200161807 single base substitution A G intron_variant ESAD-UK 2 200162224 200162224 single base substitution C G intron_variant ESAD-UK 2 200162400 200162400 single base substitution A G intron_variant ESAD-UK 2 200163370 200163370 single base substitution T C intron_variant ESAD-UK 2 200163502 200163502 single base substitution C A intron_variant ESAD-UK 2 200163935 200163935 single base substitution C T intron_variant ESAD-UK 2 200164063 200164063 single base substitution G A intron_variant ESAD-UK 2 200164067 200164067 single base substitution G C intron_variant ESAD-UK 2 200164151 200164151 single base substitution C T intron_variant ESAD-UK 2 200164545 200164545 single base substitution G T intron_variant ESAD-UK 2 200164878 200164878 single base substitution A G intron_variant ESAD-UK 2 200165153 200165153 single base substitution T A intron_variant ESAD-UK 2 200165409 200165409 single base substitution A G intron_variant ESAD-UK 2 200165776 200165776 deletion of <=200bp A - intron_variant ESAD-UK 2 200165807 200165807 single base substitution T C intron_variant ESAD-UK 2 200166283 200166286 deletion of <=200bp TGAT - intron_variant ESAD-UK 2 200166561 200166561 single base substitution A C intron_variant ESAD-UK 2 200166635 200166635 single base substitution G A intron_variant ESAD-UK 2 200166722 200166722 single base substitution G A intron_variant ESAD-UK 2 200166837 200166837 single base substitution T G intron_variant ESAD-UK 2 200168552 200168552 single base substitution G A intron_variant ESAD-UK 2 200168777 200168777 single base substitution C T downstream_gene_variant ESAD-UK 2 200168777 200168777 single base substitution C T intron_variant ESAD-UK 2 200168797 200168797 single base substitution A C downstream_gene_variant ESAD-UK 2 200168797 200168797 single base substitution A C intron_variant ESAD-UK 2 200168838 200168838 single base substitution T G downstream_gene_variant ESAD-UK 2 200168838 200168838 single base substitution T G intron_variant ESAD-UK 2 200169210 200169210 single base substitution T C downstream_gene_variant ESAD-UK 2 200169210 200169210 single base substitution T C intron_variant ESAD-UK 2 200169290 200169290 single base substitution A G downstream_gene_variant ESAD-UK 2 200169290 200169290 single base substitution A G intron_variant ESAD-UK 2 200171360 200171360 single base substitution A G downstream_gene_variant ESAD-UK 2 200171360 200171360 single base substitution A G intron_variant ESAD-UK 2 200171952 200171952 single base substitution T A downstream_gene_variant ESAD-UK 2 200171952 200171952 single base substitution T A intron_variant ESAD-UK 2 200172469 200172469 single base substitution G A downstream_gene_variant ESAD-UK 2 200172469 200172469 single base substitution G A intron_variant ESAD-UK 2 200172486 200172486 single base substitution A C downstream_gene_variant ESAD-UK 2 200172486 200172486 single base substitution A C intron_variant ESAD-UK 2 200173086 200173086 single base substitution G C downstream_gene_variant ESAD-UK 2 200173086 200173086 single base substitution G C intron_variant ESAD-UK 2 200173469 200173469 single base substitution T A downstream_gene_variant ESAD-UK 2 200173469 200173469 single base substitution T A intron_variant ESAD-UK 2 200173629 200173629 single base substitution G A exon_variant ESAD-UK 2 200173629 200173629 single base substitution G A missense_variant R414C 1240C>T ESAD-UK 2 200173629 200173629 single base substitution G A missense_variant R473C 1417C>T ESAD-UK 2 200173629 200173629 single base substitution G A missense_variant R532C 1594C>T ESAD-UK 2 200174259 200174259 single base substitution A T intron_variant ESAD-UK 2 200174272 200174272 single base substitution A T intron_variant ESAD-UK 2 200174349 200174349 single base substitution G A intron_variant ESAD-UK 2 200175345 200175345 single base substitution C T intron_variant ESAD-UK 2 200175369 200175369 single base substitution A G intron_variant ESAD-UK 2 200175390 200175390 single base substitution C T intron_variant ESAD-UK 2 200175673 200175673 single base substitution G A intron_variant ESAD-UK 2 200175990 200175990 single base substitution T C intron_variant ESAD-UK 2 200176329 200176329 single base substitution C T intron_variant ESAD-UK 2 200176330 200176330 single base substitution G A intron_variant ESAD-UK 2 200176748 200176748 single base substitution A G intron_variant ESAD-UK 2 200176988 200176988 single base substitution A G intron_variant ESAD-UK 2 200177117 200177117 single base substitution G T intron_variant ESAD-UK 2 200177118 200177118 single base substitution A T intron_variant ESAD-UK 2 200177884 200177884 single base substitution G T intron_variant ESAD-UK 2 200178893 200178893 single base substitution T C intron_variant ESAD-UK 2 200179636 200179636 single base substitution A C intron_variant ESAD-UK 2 200179779 200179779 single base substitution A G intron_variant ESAD-UK 2 200179885 200179885 single base substitution T A intron_variant ESAD-UK 2 200180166 200180166 single base substitution T C intron_variant ESAD-UK 2 200180416 200180416 single base substitution A G intron_variant ESAD-UK 2 200180548 200180548 single base substitution C A intron_variant ESAD-UK 2 200181266 200181266 single base substitution T G intron_variant ESAD-UK 2 200181627 200181627 single base substitution C T intron_variant ESAD-UK 2 200182277 200182277 single base substitution G A intron_variant ESAD-UK 2 200183416 200183416 single base substitution G A intron_variant ESAD-UK 2 200184405 200184405 single base substitution G A intron_variant ESAD-UK 2 200184439 200184439 single base substitution C T intron_variant ESAD-UK 2 200184440 200184440 single base substitution G A intron_variant ESAD-UK 2 200185320 200185320 single base substitution A T intron_variant ESAD-UK 2 200185568 200185568 single base substitution T A intron_variant ESAD-UK 2 200185600 200185600 single base substitution A G intron_variant ESAD-UK 2 200185722 200185722 single base substitution A C intron_variant ESAD-UK 2 200186497 200186497 single base substitution A T intron_variant ESAD-UK 2 200186557 200186557 single base substitution A C intron_variant ESAD-UK 2 200187170 200187170 single base substitution G A intron_variant ESAD-UK 2 200187579 200187579 single base substitution G T intron_variant ESAD-UK 2 200188335 200188335 single base substitution A C intron_variant ESAD-UK 2 200189066 200189066 single base substitution A G intron_variant ESAD-UK 2 200190875 200190875 single base substitution C A intron_variant ESAD-UK 2 200191315 200191315 single base substitution A C intron_variant ESAD-UK 2 200191356 200191356 single base substitution A G intron_variant ESAD-UK 2 200191964 200191964 single base substitution A G intron_variant ESAD-UK 2 200192018 200192018 single base substitution C T intron_variant ESAD-UK 2 200192933 200192933 single base substitution T G intron_variant ESAD-UK 2 200194087 200194087 single base substitution A T intron_variant ESAD-UK 2 200194087 200194087 single base substitution A T upstream_gene_variant ESAD-UK 2 200195186 200195186 single base substitution C T intron_variant ESAD-UK 2 200195186 200195186 single base substitution C T upstream_gene_variant ESAD-UK 2 200195455 200195455 single base substitution G C intron_variant ESAD-UK 2 200195455 200195455 single base substitution G C upstream_gene_variant ESAD-UK 2 200195898 200195898 deletion of <=200bp A - intron_variant ESAD-UK 2 200195898 200195898 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 200196370 200196370 single base substitution T G intron_variant ESAD-UK 2 200196370 200196370 single base substitution T G upstream_gene_variant ESAD-UK 2 200196937 200196937 single base substitution A G intron_variant ESAD-UK 2 200196937 200196937 single base substitution A G upstream_gene_variant ESAD-UK 2 200197182 200197182 single base substitution T C intron_variant ESAD-UK 2 200197182 200197182 single base substitution T C upstream_gene_variant ESAD-UK 2 200197556 200197556 single base substitution A C intron_variant ESAD-UK 2 200197556 200197556 single base substitution A C upstream_gene_variant ESAD-UK 2 200197569 200197569 single base substitution G C intron_variant ESAD-UK 2 200197569 200197569 single base substitution G C upstream_gene_variant ESAD-UK 2 200197890 200197890 single base substitution A C intron_variant ESAD-UK 2 200197890 200197890 single base substitution A C upstream_gene_variant ESAD-UK 2 200198783 200198783 single base substitution A C intron_variant ESAD-UK 2 200198785 200198785 single base substitution T G intron_variant ESAD-UK 2 200198973 200198973 single base substitution G T intron_variant ESAD-UK 2 200199686 200199686 single base substitution C G intron_variant ESAD-UK 2 200200815 200200815 deletion of <=200bp T - intron_variant ESAD-UK 2 200201263 200201263 single base substitution C G intron_variant ESAD-UK 2 200201494 200201494 single base substitution T G intron_variant ESAD-UK 2 200202015 200202015 single base substitution A T intron_variant ESAD-UK 2 200202050 200202050 single base substitution C A intron_variant ESAD-UK 2 200202768 200202768 single base substitution T C intron_variant ESAD-UK 2 200202853 200202853 single base substitution G A intron_variant ESAD-UK 2 200202886 200202886 single base substitution A C intron_variant ESAD-UK 2 200203792 200203792 single base substitution G A intron_variant ESAD-UK 2 200204332 200204332 single base substitution A G intron_variant ESAD-UK 2 200204505 200204505 single base substitution C A intron_variant ESAD-UK 2 200204803 200204803 single base substitution C T intron_variant ESAD-UK 2 200205101 200205101 single base substitution G A intron_variant ESAD-UK 2 200205713 200205713 single base substitution C T intron_variant ESAD-UK 2 200206029 200206029 deletion of <=200bp A - intron_variant ESAD-UK 2 200206029 200206029 insertion of <=200bp - A intron_variant ESAD-UK 2 200206507 200206507 single base substitution A G intron_variant ESAD-UK 2 200206536 200206536 single base substitution A C intron_variant ESAD-UK 2 200207065 200207065 single base substitution C T downstream_gene_variant ESAD-UK 2 200207065 200207065 single base substitution C T intron_variant ESAD-UK 2 200207977 200207977 single base substitution G A downstream_gene_variant ESAD-UK 2 200207977 200207977 single base substitution G A intron_variant ESAD-UK 2 200208062 200208062 single base substitution T G downstream_gene_variant ESAD-UK 2 200208062 200208062 single base substitution T G intron_variant ESAD-UK 2 200209083 200209083 single base substitution G T downstream_gene_variant ESAD-UK 2 200209083 200209083 single base substitution G T intron_variant ESAD-UK 2 200209269 200209269 single base substitution A C downstream_gene_variant ESAD-UK 2 200209269 200209269 single base substitution A C intron_variant ESAD-UK 2 200209301 200209301 single base substitution T A downstream_gene_variant ESAD-UK 2 200209301 200209301 single base substitution T A intron_variant ESAD-UK 2 200209320 200209320 single base substitution A G downstream_gene_variant ESAD-UK 2 200209320 200209320 single base substitution A G intron_variant ESAD-UK 2 200209381 200209381 single base substitution A T downstream_gene_variant ESAD-UK 2 200209381 200209381 single base substitution A T intron_variant ESAD-UK 2 200209519 200209519 single base substitution T G downstream_gene_variant ESAD-UK 2 200209519 200209519 single base substitution T G intron_variant ESAD-UK 2 200209544 200209544 single base substitution T G downstream_gene_variant ESAD-UK 2 200209544 200209544 single base substitution T G intron_variant ESAD-UK 2 200210431 200210431 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 200210431 200210431 deletion of <=200bp A - intron_variant ESAD-UK 2 200210598 200210598 single base substitution G C downstream_gene_variant ESAD-UK 2 200210598 200210598 single base substitution G C intron_variant ESAD-UK 2 200210905 200210905 single base substitution G A downstream_gene_variant ESAD-UK 2 200210905 200210905 single base substitution G A intron_variant ESAD-UK 2 200210993 200210993 single base substitution C A downstream_gene_variant ESAD-UK 2 200210993 200210993 single base substitution C A intron_variant ESAD-UK 2 200211733 200211733 single base substitution G A exon_variant ESAD-UK 2 200211733 200211733 single base substitution G A intron_variant ESAD-UK 2 200211933 200211933 single base substitution C T exon_variant ESAD-UK 2 200211933 200211933 single base substitution C T intron_variant ESAD-UK 2 200212344 200212344 single base substitution T C exon_variant ESAD-UK 2 200212344 200212344 single base substitution T C intron_variant ESAD-UK 2 200213969 200213969 single base substitution G A intron_variant ESAD-UK 2 200214024 200214024 single base substitution G T intron_variant ESAD-UK 2 200214026 200214026 single base substitution A C intron_variant ESAD-UK 2 200214783 200214783 single base substitution G A intron_variant ESAD-UK 2 200215275 200215275 single base substitution A T intron_variant ESAD-UK 2 200215597 200215597 deletion of <=200bp T - intron_variant ESAD-UK 2 200215896 200215896 single base substitution T A intron_variant ESAD-UK 2 200216110 200216110 single base substitution T G intron_variant ESAD-UK 2 200216589 200216589 single base substitution T G intron_variant ESAD-UK 2 200216644 200216644 single base substitution A G intron_variant ESAD-UK 2 200217953 200217953 single base substitution C A intron_variant ESAD-UK 2 200218273 200218273 single base substitution C A intron_variant ESAD-UK 2 200219543 200219543 single base substitution A C intron_variant ESAD-UK 2 200219964 200219964 single base substitution A C intron_variant ESAD-UK 2 200220679 200220679 single base substitution G A intron_variant ESAD-UK 2 200220736 200220736 single base substitution T C intron_variant ESAD-UK 2 200221478 200221478 single base substitution T G intron_variant ESAD-UK 2 200221687 200221687 single base substitution A C intron_variant ESAD-UK 2 200221883 200221883 single base substitution G C intron_variant ESAD-UK 2 200222332 200222332 single base substitution A T intron_variant ESAD-UK 2 200223534 200223534 single base substitution A G intron_variant ESAD-UK 2 200223685 200223685 single base substitution C A intron_variant ESAD-UK 2 200223740 200223740 single base substitution T A intron_variant ESAD-UK 2 200223800 200223800 single base substitution T A intron_variant ESAD-UK 2 200223854 200223854 single base substitution T C intron_variant ESAD-UK 2 200224321 200224321 single base substitution A C intron_variant ESAD-UK 2 200224321 200224321 single base substitution A G intron_variant ESAD-UK 2 200225398 200225398 single base substitution T G intron_variant ESAD-UK 2 200225942 200225942 single base substitution C T intron_variant ESAD-UK 2 200226053 200226053 single base substitution T G intron_variant ESAD-UK 2 200226421 200226421 single base substitution T G intron_variant ESAD-UK 2 200226627 200226627 single base substitution A C intron_variant ESAD-UK 2 200226627 200226627 single base substitution A G intron_variant ESAD-UK 2 200226817 200226817 single base substitution T G intron_variant ESAD-UK 2 200228390 200228390 single base substitution T G downstream_gene_variant ESAD-UK 2 200228390 200228390 single base substitution T G intron_variant ESAD-UK 2 200229681 200229681 single base substitution T C downstream_gene_variant ESAD-UK 2 200229681 200229681 single base substitution T C intron_variant ESAD-UK 2 200229744 200229744 single base substitution A C downstream_gene_variant ESAD-UK 2 200229744 200229744 single base substitution A C intron_variant ESAD-UK 2 200230206 200230206 single base substitution T C downstream_gene_variant ESAD-UK 2 200230206 200230206 single base substitution T C intron_variant ESAD-UK 2 200230569 200230569 single base substitution G C downstream_gene_variant ESAD-UK 2 200230569 200230569 single base substitution G C intron_variant ESAD-UK 2 200230708 200230708 single base substitution A C downstream_gene_variant ESAD-UK 2 200230708 200230708 single base substitution A C intron_variant ESAD-UK 2 200230924 200230924 single base substitution T G downstream_gene_variant ESAD-UK 2 200230924 200230924 single base substitution T G intron_variant ESAD-UK 2 200231665 200231665 single base substitution T A downstream_gene_variant ESAD-UK 2 200231665 200231665 single base substitution T A intron_variant ESAD-UK 2 200232466 200232466 single base substitution A C downstream_gene_variant ESAD-UK 2 200232466 200232466 single base substitution A C intron_variant ESAD-UK 2 200233275 200233275 single base substitution T A downstream_gene_variant ESAD-UK 2 200233275 200233275 single base substitution T A intron_variant ESAD-UK 2 200233903 200233903 single base substitution G A intron_variant ESAD-UK 2 200233903 200233903 single base substitution G A upstream_gene_variant ESAD-UK 2 200234524 200234524 single base substitution G A intron_variant ESAD-UK 2 200234524 200234524 single base substitution G A upstream_gene_variant ESAD-UK 2 200234749 200234749 single base substitution G T intron_variant ESAD-UK 2 200234749 200234749 single base substitution G T upstream_gene_variant ESAD-UK 2 200234762 200234762 single base substitution G T intron_variant ESAD-UK 2 200234762 200234762 single base substitution G T upstream_gene_variant ESAD-UK 2 200236679 200236679 single base substitution A C intron_variant ESAD-UK 2 200236679 200236679 single base substitution A C upstream_gene_variant ESAD-UK 2 200238204 200238204 single base substitution A G intron_variant ESAD-UK 2 200238204 200238204 single base substitution A G upstream_gene_variant ESAD-UK 2 200238328 200238328 single base substitution T C intron_variant ESAD-UK 2 200238328 200238328 single base substitution T C upstream_gene_variant ESAD-UK 2 200238617 200238617 single base substitution A G intron_variant ESAD-UK 2 200238617 200238617 single base substitution A G upstream_gene_variant ESAD-UK 2 200239374 200239374 single base substitution T A intron_variant ESAD-UK 2 200240400 200240400 single base substitution A G intron_variant ESAD-UK 2 200240854 200240854 single base substitution G A intron_variant ESAD-UK 2 200240859 200240859 single base substitution C A intron_variant ESAD-UK 2 200241782 200241782 single base substitution G A intron_variant ESAD-UK 2 200242091 200242091 single base substitution A C intron_variant ESAD-UK 2 200242368 200242368 single base substitution T C intron_variant ESAD-UK 2 200242398 200242398 single base substitution T G intron_variant ESAD-UK 2 200242476 200242476 single base substitution T G intron_variant ESAD-UK 2 200243171 200243171 single base substitution T G intron_variant ESAD-UK 2 200243244 200243244 single base substitution G A intron_variant ESAD-UK 2 200243336 200243336 single base substitution G A intron_variant ESAD-UK 2 200243492 200243492 single base substitution C A intron_variant ESAD-UK 2 200244166 200244166 single base substitution T G intron_variant ESAD-UK 2 200245188 200245188 single base substitution G A exon_variant ESAD-UK 2 200245188 200245188 single base substitution G A intron_variant ESAD-UK 2 200245188 200245188 single base substitution G A missense_variant P107S 319C>T ESAD-UK 2 200245188 200245188 single base substitution G A missense_variant P166S 496C>T ESAD-UK 2 200245673 200245673 single base substitution A G intron_variant ESAD-UK 2 200245834 200245834 single base substitution T C intron_variant ESAD-UK 2 200245987 200245987 single base substitution G A intron_variant ESAD-UK 2 200247423 200247423 single base substitution G A intron_variant ESAD-UK 2 200247767 200247767 single base substitution C T intron_variant ESAD-UK 2 200248164 200248164 single base substitution G T intron_variant ESAD-UK 2 200248312 200248312 deletion of <=200bp G - intron_variant ESAD-UK 2 200248409 200248409 deletion of <=200bp A - intron_variant ESAD-UK 2 200248604 200248604 single base substitution C A intron_variant ESAD-UK 2 200248700 200248700 single base substitution C A intron_variant ESAD-UK 2 200248714 200248714 single base substitution T G intron_variant ESAD-UK 2 200249442 200249442 single base substitution C T intron_variant ESAD-UK 2 200250222 200250222 single base substitution T C intron_variant ESAD-UK 2 200250741 200250741 single base substitution A C intron_variant ESAD-UK 2 200251006 200251006 single base substitution T G intron_variant ESAD-UK 2 200251305 200251305 single base substitution A G intron_variant ESAD-UK 2 200251675 200251675 single base substitution A T intron_variant ESAD-UK 2 200253145 200253145 single base substitution A G intron_variant ESAD-UK 2 200253749 200253749 single base substitution G A intron_variant ESAD-UK 2 200255232 200255232 single base substitution A T intron_variant ESAD-UK 2 200255483 200255483 single base substitution G A intron_variant ESAD-UK 2 200255984 200255984 single base substitution A C downstream_gene_variant ESAD-UK 2 200255984 200255984 single base substitution A C intron_variant ESAD-UK 2 200256383 200256383 single base substitution C A downstream_gene_variant ESAD-UK 2 200256383 200256383 single base substitution C A intron_variant ESAD-UK 2 200257140 200257140 single base substitution A G downstream_gene_variant ESAD-UK 2 200257140 200257140 single base substitution A G intron_variant ESAD-UK 2 200257181 200257181 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 200257181 200257181 deletion of <=200bp T - intron_variant ESAD-UK 2 200257745 200257745 single base substitution A C downstream_gene_variant ESAD-UK 2 200257745 200257745 single base substitution A C intron_variant ESAD-UK 2 200258838 200258838 single base substitution G A downstream_gene_variant ESAD-UK 2 200258838 200258838 single base substitution G A intron_variant ESAD-UK 2 200259568 200259568 single base substitution T A downstream_gene_variant ESAD-UK 2 200259568 200259568 single base substitution T A intron_variant ESAD-UK 2 200259916 200259916 single base substitution C A downstream_gene_variant ESAD-UK 2 200259916 200259916 single base substitution C A intron_variant ESAD-UK 2 200259992 200259992 single base substitution A C downstream_gene_variant ESAD-UK 2 200259992 200259992 single base substitution A C intron_variant ESAD-UK 2 200260611 200260611 single base substitution C A 3_prime_UTR_variant ESAD-UK 2 200260611 200260611 single base substitution C A intron_variant ESAD-UK 2 200260784 200260784 single base substitution T A 3_prime_UTR_variant ESAD-UK 2 200260784 200260784 single base substitution T A intron_variant ESAD-UK 2 200260933 200260933 single base substitution C G 3_prime_UTR_variant ESAD-UK 2 200260933 200260933 single base substitution C G intron_variant ESAD-UK 2 200260996 200260996 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 200260996 200260996 single base substitution G C intron_variant ESAD-UK 2 200261209 200261209 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 200261209 200261209 single base substitution A C intron_variant ESAD-UK 2 200261251 200261251 single base substitution T G 3_prime_UTR_variant ESAD-UK 2 200261251 200261251 single base substitution T G intron_variant ESAD-UK 2 200262299 200262299 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 2 200262299 200262299 deletion of <=200bp T - intron_variant ESAD-UK 2 200262566 200262566 single base substitution A C intron_variant ESAD-UK 2 200262566 200262566 single base substitution A C splice_region_variant ESAD-UK 2 200264527 200264527 single base substitution A C intron_variant ESAD-UK 2 200265520 200265520 single base substitution G C intron_variant ESAD-UK 2 200265834 200265834 single base substitution A G intron_variant ESAD-UK 2 200265846 200265846 single base substitution T C intron_variant ESAD-UK 2 200267191 200267191 single base substitution G A intron_variant ESAD-UK 2 200267566 200267566 single base substitution C A intron_variant ESAD-UK 2 200267602 200267602 single base substitution C T intron_variant ESAD-UK 2 200269015 200269015 single base substitution A C intron_variant ESAD-UK 2 200269556 200269556 single base substitution A T intron_variant ESAD-UK 2 200269719 200269719 single base substitution A C intron_variant ESAD-UK 2 200270928 200270928 single base substitution C A intron_variant ESAD-UK 2 200271893 200271893 single base substitution A T intron_variant ESAD-UK 2 200271973 200271973 single base substitution T G intron_variant ESAD-UK 2 200272942 200272942 single base substitution A C intron_variant ESAD-UK 2 200273095 200273095 single base substitution A G intron_variant ESAD-UK 2 200273098 200273098 single base substitution A T intron_variant ESAD-UK 2 200273215 200273215 single base substitution A C intron_variant ESAD-UK 2 200273486 200273486 single base substitution A G intron_variant ESAD-UK 2 200273490 200273490 single base substitution T G intron_variant ESAD-UK 2 200273569 200273569 single base substitution T G intron_variant ESAD-UK 2 200274364 200274364 single base substitution C A intron_variant ESAD-UK 2 200275085 200275085 single base substitution G C intron_variant ESAD-UK 2 200275368 200275368 single base substitution A C intron_variant ESAD-UK 2 200275496 200275496 single base substitution T C intron_variant ESAD-UK 2 200277110 200277110 single base substitution G A intron_variant ESAD-UK 2 200277429 200277429 single base substitution G C intron_variant ESAD-UK 2 200279589 200279589 single base substitution G A intron_variant ESAD-UK 2 200279740 200279740 single base substitution G A intron_variant ESAD-UK 2 200281017 200281020 deletion of <=200bp CAAA - intron_variant ESAD-UK 2 200281278 200281278 single base substitution A G intron_variant ESAD-UK 2 200281483 200281483 single base substitution A C intron_variant ESAD-UK 2 200282741 200282741 single base substitution C T intron_variant ESAD-UK 2 200283235 200283235 single base substitution A C intron_variant ESAD-UK 2 200284337 200284337 single base substitution T C intron_variant ESAD-UK 2 200285199 200285199 single base substitution A C intron_variant ESAD-UK 2 200286362 200286362 single base substitution G A intron_variant ESAD-UK 2 200286560 200286560 single base substitution A G intron_variant ESAD-UK 2 200287278 200287278 single base substitution C T intron_variant ESAD-UK 2 200287638 200287638 single base substitution G A intron_variant ESAD-UK 2 200288954 200288954 single base substitution C A intron_variant ESAD-UK 2 200288954 200288954 single base substitution C A upstream_gene_variant ESAD-UK 2 200289472 200289472 single base substitution T G intron_variant ESAD-UK 2 200289472 200289472 single base substitution T G upstream_gene_variant ESAD-UK 2 200289644 200289644 single base substitution A C intron_variant ESAD-UK 2 200289644 200289644 single base substitution A C upstream_gene_variant ESAD-UK 2 200290882 200290882 single base substitution A T intron_variant ESAD-UK 2 200290882 200290882 single base substitution A T upstream_gene_variant ESAD-UK 2 200290956 200290956 single base substitution A G intron_variant ESAD-UK 2 200290956 200290956 single base substitution A G upstream_gene_variant ESAD-UK 2 200293976 200293976 single base substitution G A intron_variant ESAD-UK 2 200294283 200294283 deletion of <=200bp A - intron_variant ESAD-UK 2 200294482 200294482 single base substitution A C intron_variant ESAD-UK 2 200296212 200296212 single base substitution A G intron_variant ESAD-UK 2 200296507 200296507 single base substitution G A intron_variant ESAD-UK 2 200296827 200296827 single base substitution G C intron_variant ESAD-UK 2 200297176 200297176 single base substitution A G intron_variant ESAD-UK 2 200297585 200297585 single base substitution G T intron_variant ESAD-UK 2 200298217 200298217 single base substitution A T exon_variant ESAD-UK 2 200298217 200298217 single base substitution A T intron_variant ESAD-UK 2 200298217 200298217 single base substitution A T missense_variant C64S 190T>A ESAD-UK 2 200298651 200298651 single base substitution A G intron_variant ESAD-UK 2 200299445 200299445 single base substitution A G intron_variant ESAD-UK 2 200299729 200299729 single base substitution C T intron_variant ESAD-UK 2 200300745 200300745 single base substitution A C intron_variant ESAD-UK 2 200301831 200301831 single base substitution T C intron_variant ESAD-UK 2 200302287 200302287 single base substitution G T intron_variant ESAD-UK 2 200303133 200303133 single base substitution G A intron_variant ESAD-UK 2 200303748 200303748 single base substitution C T intron_variant ESAD-UK 2 200303913 200303913 single base substitution C G intron_variant ESAD-UK 2 200304038 200304038 single base substitution T G intron_variant ESAD-UK 2 200304719 200304719 single base substitution T G intron_variant ESAD-UK 2 200304750 200304750 single base substitution A C intron_variant ESAD-UK 2 200304797 200304797 single base substitution C A intron_variant ESAD-UK 2 200305593 200305593 single base substitution G C intron_variant ESAD-UK 2 200306152 200306152 single base substitution A C intron_variant ESAD-UK 2 200307137 200307137 single base substitution A C intron_variant ESAD-UK 2 200307548 200307548 single base substitution C T intron_variant ESAD-UK 2 200308504 200308504 single base substitution A C intron_variant ESAD-UK 2 200308547 200308547 deletion of <=200bp A - intron_variant ESAD-UK 2 200311482 200311482 single base substitution C A intron_variant ESAD-UK 2 200313410 200313410 single base substitution G A intron_variant ESAD-UK 2 200313885 200313885 deletion of <=200bp A - intron_variant ESAD-UK 2 200315459 200315459 single base substitution A T intron_variant ESAD-UK 2 200316758 200316758 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 200316758 200316758 insertion of <=200bp - A intron_variant ESAD-UK 2 200316795 200316795 single base substitution T G downstream_gene_variant ESAD-UK 2 200316795 200316795 single base substitution T G intron_variant ESAD-UK 2 200316875 200316875 single base substitution A C downstream_gene_variant ESAD-UK 2 200316875 200316875 single base substitution A C intron_variant ESAD-UK 2 200317420 200317420 single base substitution G T downstream_gene_variant ESAD-UK 2 200317420 200317420 single base substitution G T intron_variant ESAD-UK 2 200318269 200318269 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 200318269 200318269 deletion of <=200bp A - intron_variant ESAD-UK 2 200318718 200318718 single base substitution G C downstream_gene_variant ESAD-UK 2 200318718 200318718 single base substitution G C intron_variant ESAD-UK 2 200319680 200319680 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 200319680 200319680 insertion of <=200bp - A intron_variant ESAD-UK 2 200321341 200321341 single base substitution A G intron_variant ESAD-UK 2 200321341 200321341 single base substitution A G upstream_gene_variant ESAD-UK 2 200323614 200323614 single base substitution G A intron_variant ESAD-UK 2 200323614 200323614 single base substitution G A upstream_gene_variant ESAD-UK 2 200324250 200324250 single base substitution C T intron_variant ESAD-UK 2 200324250 200324250 single base substitution C T upstream_gene_variant ESAD-UK 2 200325116 200325116 single base substitution G A intron_variant ESAD-UK 2 200325116 200325116 single base substitution G A upstream_gene_variant ESAD-UK 2 200326043 200326043 single base substitution G A intron_variant ESAD-UK 2 200326043 200326043 single base substitution G A upstream_gene_variant ESAD-UK 2 200326679 200326679 single base substitution G A intron_variant ESAD-UK 2 200326679 200326679 single base substitution G A upstream_gene_variant ESAD-UK 2 200327471 200327471 single base substitution C T intron_variant ESAD-UK 2 200327471 200327471 single base substitution C T upstream_gene_variant ESAD-UK 2 200329085 200329085 single base substitution G A intron_variant ESAD-UK 2 200330412 200330412 single base substitution A G intron_variant ESAD-UK 2 200330412 200330412 single base substitution A G upstream_gene_variant ESAD-UK 2 200330804 200330804 single base substitution C T intron_variant ESAD-UK 2 200330804 200330804 single base substitution C T upstream_gene_variant ESAD-UK 2 200331439 200331439 single base substitution T C intron_variant ESAD-UK 2 200331439 200331439 single base substitution T C upstream_gene_variant ESAD-UK 2 200331551 200331551 deletion of <=200bp T - intron_variant ESAD-UK 2 200331551 200331551 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 200332798 200332798 single base substitution T C intron_variant ESAD-UK 2 200332798 200332798 single base substitution T C upstream_gene_variant ESAD-UK 2 200333458 200333458 single base substitution C A intron_variant ESAD-UK 2 200333458 200333458 single base substitution C A upstream_gene_variant ESAD-UK 2 200333897 200333897 single base substitution A G intron_variant ESAD-UK 2 200333897 200333897 single base substitution A G upstream_gene_variant ESAD-UK 2 200334128 200334128 single base substitution G A intron_variant ESAD-UK 2 200334128 200334128 single base substitution G A upstream_gene_variant ESAD-UK 2 200334201 200334201 single base substitution A T intron_variant ESAD-UK 2 200334201 200334201 single base substitution A T upstream_gene_variant ESAD-UK 2 200334202 200334202 single base substitution T A intron_variant ESAD-UK 2 200334202 200334202 single base substitution T A upstream_gene_variant ESAD-UK 2 200334657 200334657 single base substitution C T intron_variant ESAD-UK 2 200334657 200334657 single base substitution C T upstream_gene_variant ESAD-UK 2 200336217 200336217 single base substitution C T upstream_gene_variant ESAD-UK 2 200336593 200336593 single base substitution G C upstream_gene_variant ESAD-UK 2 200336649 200336649 single base substitution T A upstream_gene_variant ESAD-UK 2 200336915 200336915 single base substitution G A upstream_gene_variant ESAD-UK 2 200337884 200337884 single base substitution C T upstream_gene_variant ESAD-UK 2 200338501 200338501 single base substitution T C upstream_gene_variant ESAD-UK 2 200339940 200339940 single base substitution G A upstream_gene_variant ESAD-UK 2 200339952 200339952 single base substitution G A upstream_gene_variant ESAD-UK 2 200340380 200340380 single base substitution G T upstream_gene_variant ESAD-UK 2 200340399 200340399 single base substitution A C upstream_gene_variant ESAD-UK 2 200340882 200340882 single base substitution A C upstream_gene_variant ESCA-CN 2 200136207 200136207 single base substitution C T 3_prime_UTR_variant ESCA-CN 2 200136207 200136207 single base substitution C T downstream_gene_variant ESCA-CN 2 200193537 200193537 single base substitution G T exon_variant ESCA-CN 2 200193537 200193537 single base substitution G T missense_variant L306M 916C>A ESCA-CN 2 200193537 200193537 single base substitution G T missense_variant L365M 1093C>A ESCA-CN 2 200193537 200193537 single base substitution G T missense_variant L424M 1270C>A KIRC-US 2 200193590 200193590 single base substitution G C exon_variant KIRC-US 2 200193590 200193590 single base substitution G C missense_variant T288R 863C>G KIRC-US 2 200193590 200193590 single base substitution G C missense_variant T347R 1040C>G KIRC-US 2 200193590 200193590 single base substitution G C missense_variant T406R 1217C>G KIRC-US 2 200193631 200193631 single base substitution T A exon_variant KIRC-US 2 200193631 200193631 single base substitution T A splice_region_variant KIRC-US 2 200245089 200245089 single base substitution G A intron_variant KIRC-US 2 200245089 200245089 single base substitution G A splice_region_variant KIRC-US 2 200245089 200245089 single base substitution G A stop_gained Q140* 418C>T KIRC-US 2 200245089 200245089 single base substitution G A stop_gained Q199* 595C>T KIRP-US 2 200193570 200193570 single base substitution C A exon_variant KIRP-US 2 200193570 200193570 single base substitution C A missense_variant V295L 883G>T KIRP-US 2 200193570 200193570 single base substitution C A missense_variant V354L 1060G>T KIRP-US 2 200193570 200193570 single base substitution C A missense_variant V413L 1237G>T LAML-KR 2 200156403 200156403 single base substitution A G intron_variant LAML-KR 2 200199302 200199302 single base substitution T A intron_variant LAML-KR 2 200205246 200205246 single base substitution G A intron_variant LAML-KR 2 200220975 200220975 single base substitution G A intron_variant LICA-CN 2 200173636 200173636 single base substitution T C exon_variant LICA-CN 2 200173636 200173636 single base substitution T C synonymous_variant P411P 1233A>G LICA-CN 2 200173636 200173636 single base substitution T C synonymous_variant P470P 1410A>G LICA-CN 2 200173636 200173636 single base substitution T C synonymous_variant P529P 1587A>G LICA-FR 2 200129305 200129305 single base substitution A T downstream_gene_variant LICA-FR 2 200134421 200134421 insertion of <=200bp - AAA 3_prime_UTR_variant LICA-FR 2 200134421 200134421 insertion of <=200bp - AAA downstream_gene_variant LICA-FR 2 200137120 200137120 single base substitution G C missense_variant H554Q 1662C>G LICA-FR 2 200137120 200137120 single base substitution G C missense_variant H613Q 1839C>G LICA-FR 2 200137120 200137120 single base substitution G C missense_variant H672Q 2016C>G LICA-FR 2 200145976 200145979 deletion of <=200bp TGTA - intron_variant LICA-FR 2 200161336 200161336 single base substitution C A intron_variant LICA-FR 2 200183124 200183124 deletion of <=200bp G - intron_variant LICA-FR 2 200193805 200193805 single base substitution C A intron_variant LICA-FR 2 200193805 200193805 single base substitution C A upstream_gene_variant LICA-FR 2 200203641 200203641 insertion of <=200bp - A intron_variant LICA-FR 2 200207150 200207150 deletion of <=200bp A - downstream_gene_variant LICA-FR 2 200207150 200207150 deletion of <=200bp A - intron_variant LICA-FR 2 200213280 200213280 single base substitution G A exon_variant LICA-FR 2 200213280 200213280 single base substitution G A intron_variant LICA-FR 2 200231646 200231646 single base substitution A C downstream_gene_variant LICA-FR 2 200231646 200231646 single base substitution A C intron_variant LICA-FR 2 200238922 200238922 single base substitution T C intron_variant LICA-FR 2 200244410 200244410 insertion of <=200bp - C intron_variant LICA-FR 2 200245174 200245174 single base substitution C T exon_variant LICA-FR 2 200245174 200245174 single base substitution C T intron_variant LICA-FR 2 200245174 200245174 single base substitution C T stop_gained W111* 333G>A LICA-FR 2 200245174 200245174 single base substitution C T stop_gained W170* 510G>A LICA-FR 2 200246434 200246441 deletion of <=200bp CAACGTCA - exon_variant LICA-FR 2 200246434 200246441 deletion of <=200bp CAACGTCA - frameshift_variant VTL150 LICA-FR 2 200246434 200246441 deletion of <=200bp CAACGTCA - frameshift_variant VTL91 LICA-FR 2 200246434 200246441 deletion of <=200bp CAACGTCA - intron_variant LICA-FR 2 200256156 200256159 deletion of <=200bp AAAA - downstream_gene_variant LICA-FR 2 200256156 200256159 deletion of <=200bp AAAA - intron_variant LICA-FR 2 200262055 200262055 single base substitution T A intron_variant LICA-FR 2 200271909 200271909 single base substitution T A intron_variant LICA-FR 2 200290707 200290707 single base substitution G T intron_variant LICA-FR 2 200290707 200290707 single base substitution G T upstream_gene_variant LICA-FR 2 200330885 200330885 single base substitution C T intron_variant LICA-FR 2 200330885 200330885 single base substitution C T upstream_gene_variant LINC-JP 2 200149195 200149195 single base substitution T A intron_variant LINC-JP 2 200184491 200184491 deletion of <=200bp A - intron_variant LINC-JP 2 200188199 200188199 single base substitution T C intron_variant LINC-JP 2 200198990 200198990 single base substitution C A intron_variant LINC-JP 2 200205735 200205735 single base substitution C T intron_variant LINC-JP 2 200206925 200206925 single base substitution T A downstream_gene_variant LINC-JP 2 200206925 200206925 single base substitution T A intron_variant LINC-JP 2 200208744 200208744 single base substitution C T downstream_gene_variant LINC-JP 2 200208744 200208744 single base substitution C T intron_variant LINC-JP 2 200213450 200213450 single base substitution C G exon_variant LINC-JP 2 200213450 200213450 single base substitution C G missense_variant A265P 793G>C LINC-JP 2 200213450 200213450 single base substitution C G missense_variant A324P 970G>C LINC-JP 2 200213450 200213450 single base substitution C G missense_variant A383P 1147G>C LINC-JP 2 200221059 200221059 single base substitution G A intron_variant LINC-JP 2 200222853 200222853 insertion of <=200bp - G intron_variant LINC-JP 2 200228267 200228267 single base substitution A G intron_variant LINC-JP 2 200244498 200244498 single base substitution G T intron_variant LINC-JP 2 200262149 200262149 single base substitution T A intron_variant LINC-JP 2 200264399 200264399 single base substitution C T intron_variant LINC-JP 2 200266559 200266559 single base substitution T C intron_variant LINC-JP 2 200288641 200288641 single base substitution A G intron_variant LINC-JP 2 200288641 200288641 single base substitution A G upstream_gene_variant LINC-JP 2 200288794 200288794 single base substitution T C intron_variant LINC-JP 2 200288794 200288794 single base substitution T C upstream_gene_variant LINC-JP 2 200289326 200289326 single base substitution T C intron_variant LINC-JP 2 200289326 200289326 single base substitution T C upstream_gene_variant LINC-JP 2 200302513 200302513 single base substitution T C intron_variant LINC-JP 2 200317026 200317026 single base substitution C T downstream_gene_variant LINC-JP 2 200317026 200317026 single base substitution C T intron_variant LINC-JP 2 200317290 200317290 single base substitution C A downstream_gene_variant LINC-JP 2 200317290 200317290 single base substitution C A intron_variant LINC-JP 2 200323919 200323919 single base substitution G T intron_variant LINC-JP 2 200323919 200323919 single base substitution G T upstream_gene_variant LINC-JP 2 200330619 200330619 single base substitution G A intron_variant LINC-JP 2 200330619 200330619 single base substitution G A upstream_gene_variant LIRI-JP 2 200130576 200130576 single base substitution C A downstream_gene_variant LIRI-JP 2 200132304 200132304 single base substitution G T downstream_gene_variant LIRI-JP 2 200132854 200132854 single base substitution T C downstream_gene_variant LIRI-JP 2 200133353 200133353 single base substitution A T downstream_gene_variant LIRI-JP 2 200134326 200134326 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 200134326 200134326 single base substitution T C downstream_gene_variant LIRI-JP 2 200134606 200134606 single base substitution G C 3_prime_UTR_variant LIRI-JP 2 200134606 200134606 single base substitution G C downstream_gene_variant LIRI-JP 2 200136071 200136071 single base substitution T G 3_prime_UTR_variant LIRI-JP 2 200136071 200136071 single base substitution T G downstream_gene_variant LIRI-JP 2 200136081 200136081 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 200136081 200136081 single base substitution T C downstream_gene_variant LIRI-JP 2 200136222 200136222 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 200136222 200136222 single base substitution T C downstream_gene_variant LIRI-JP 2 200136726 200136726 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 200136726 200136726 single base substitution T C downstream_gene_variant LIRI-JP 2 200136871 200136871 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 200136871 200136871 single base substitution T C downstream_gene_variant LIRI-JP 2 200137209 200137209 single base substitution C G missense_variant E525Q 1573G>C LIRI-JP 2 200137209 200137209 single base substitution C G missense_variant E584Q 1750G>C LIRI-JP 2 200137209 200137209 single base substitution C G missense_variant E643Q 1927G>C LIRI-JP 2 200140533 200140533 single base substitution T C intron_variant LIRI-JP 2 200141575 200141575 single base substitution A T intron_variant LIRI-JP 2 200142643 200142643 single base substitution T A intron_variant LIRI-JP 2 200145132 200145132 single base substitution A T intron_variant LIRI-JP 2 200145197 200145197 single base substitution C A intron_variant LIRI-JP 2 200145669 200145669 single base substitution T G intron_variant LIRI-JP 2 200146464 200146464 single base substitution T C intron_variant LIRI-JP 2 200146889 200146889 single base substitution C T intron_variant LIRI-JP 2 200148054 200148054 single base substitution C A intron_variant LIRI-JP 2 200148107 200148107 single base substitution C A intron_variant LIRI-JP 2 200148108 200148108 single base substitution C T intron_variant LIRI-JP 2 200148862 200148862 single base substitution C A intron_variant LIRI-JP 2 200149280 200149280 single base substitution T G intron_variant LIRI-JP 2 200149640 200149640 single base substitution G T intron_variant LIRI-JP 2 200150719 200150719 single base substitution A G intron_variant LIRI-JP 2 200150787 200150787 single base substitution T G intron_variant LIRI-JP 2 200154251 200154251 single base substitution C T intron_variant LIRI-JP 2 200155752 200155752 single base substitution C G intron_variant LIRI-JP 2 200165434 200165434 single base substitution C T intron_variant LIRI-JP 2 200168205 200168205 single base substitution A T intron_variant LIRI-JP 2 200168817 200168817 single base substitution T C downstream_gene_variant LIRI-JP 2 200168817 200168817 single base substitution T C intron_variant LIRI-JP 2 200169048 200169048 single base substitution C A downstream_gene_variant LIRI-JP 2 200169048 200169048 single base substitution C A intron_variant LIRI-JP 2 200169401 200169401 single base substitution A G downstream_gene_variant LIRI-JP 2 200169401 200169401 single base substitution A G intron_variant LIRI-JP 2 200169569 200169569 single base substitution C A downstream_gene_variant LIRI-JP 2 200169569 200169569 single base substitution C A intron_variant LIRI-JP 2 200170524 200170524 single base substitution C T downstream_gene_variant LIRI-JP 2 200170524 200170524 single base substitution C T intron_variant LIRI-JP 2 200171750 200171750 single base substitution G A downstream_gene_variant LIRI-JP 2 200171750 200171750 single base substitution G A intron_variant LIRI-JP 2 200172759 200172759 single base substitution C T downstream_gene_variant LIRI-JP 2 200172759 200172759 single base substitution C T intron_variant LIRI-JP 2 200173080 200173080 single base substitution T A downstream_gene_variant LIRI-JP 2 200173080 200173080 single base substitution T A intron_variant LIRI-JP 2 200173168 200173168 single base substitution T A downstream_gene_variant LIRI-JP 2 200173168 200173168 single base substitution T A intron_variant LIRI-JP 2 200173457 200173457 deletion of <=200bp G - downstream_gene_variant LIRI-JP 2 200173457 200173457 deletion of <=200bp G - intron_variant LIRI-JP 2 200175847 200175847 single base substitution G C intron_variant LIRI-JP 2 200176425 200176425 single base substitution C G intron_variant LIRI-JP 2 200178685 200178685 single base substitution C A intron_variant LIRI-JP 2 200179542 200179542 single base substitution C A intron_variant LIRI-JP 2 200179627 200179627 single base substitution T C intron_variant LIRI-JP 2 200179897 200179897 single base substitution G C intron_variant LIRI-JP 2 200180730 200180730 single base substitution A T intron_variant LIRI-JP 2 200181271 200181271 single base substitution T C intron_variant LIRI-JP 2 200181689 200181689 single base substitution C T intron_variant LIRI-JP 2 200181730 200181730 single base substitution A G intron_variant LIRI-JP 2 200183836 200183836 single base substitution T C intron_variant LIRI-JP 2 200184843 200184843 single base substitution C T intron_variant LIRI-JP 2 200186432 200186432 single base substitution T C intron_variant LIRI-JP 2 200187375 200187375 single base substitution A G intron_variant LIRI-JP 2 200187583 200187583 single base substitution G C intron_variant LIRI-JP 2 200187825 200187825 single base substitution A G intron_variant LIRI-JP 2 200188986 200188986 single base substitution A G intron_variant LIRI-JP 2 200189133 200189133 single base substitution A C intron_variant LIRI-JP 2 200190559 200190559 single base substitution A C intron_variant LIRI-JP 2 200195282 200195282 single base substitution C T intron_variant LIRI-JP 2 200195282 200195282 single base substitution C T upstream_gene_variant LIRI-JP 2 200195690 200195690 single base substitution C T intron_variant LIRI-JP 2 200195690 200195690 single base substitution C T upstream_gene_variant LIRI-JP 2 200196403 200196403 deletion of <=200bp G - intron_variant LIRI-JP 2 200196403 200196403 deletion of <=200bp G - upstream_gene_variant LIRI-JP 2 200196707 200196707 single base substitution C T intron_variant LIRI-JP 2 200196707 200196707 single base substitution C T upstream_gene_variant LIRI-JP 2 200198806 200198806 single base substitution T C intron_variant LIRI-JP 2 200199420 200199420 single base substitution T C intron_variant LIRI-JP 2 200200084 200200084 single base substitution G T intron_variant LIRI-JP 2 200200515 200200515 single base substitution T A intron_variant LIRI-JP 2 200201134 200201134 single base substitution T C intron_variant LIRI-JP 2 200201905 200201905 single base substitution G A intron_variant LIRI-JP 2 200203796 200203796 single base substitution G A intron_variant LIRI-JP 2 200204015 200204015 single base substitution C A intron_variant LIRI-JP 2 200204231 200204231 single base substitution T G intron_variant LIRI-JP 2 200206105 200206105 single base substitution G C intron_variant LIRI-JP 2 200207635 200207635 single base substitution A G downstream_gene_variant LIRI-JP 2 200207635 200207635 single base substitution A G intron_variant LIRI-JP 2 200209982 200209982 single base substitution C T downstream_gene_variant LIRI-JP 2 200209982 200209982 single base substitution C T intron_variant LIRI-JP 2 200210034 200210034 single base substitution T A downstream_gene_variant LIRI-JP 2 200210034 200210034 single base substitution T A intron_variant LIRI-JP 2 200210612 200210612 single base substitution G T downstream_gene_variant LIRI-JP 2 200210612 200210612 single base substitution G T intron_variant LIRI-JP 2 200210764 200210764 single base substitution T C downstream_gene_variant LIRI-JP 2 200210764 200210764 single base substitution T C intron_variant LIRI-JP 2 200210857 200210857 single base substitution T C downstream_gene_variant LIRI-JP 2 200210857 200210857 single base substitution T C intron_variant LIRI-JP 2 200212590 200212590 single base substitution G T exon_variant LIRI-JP 2 200212590 200212590 single base substitution G T intron_variant LIRI-JP 2 200213000 200213000 single base substitution C A exon_variant LIRI-JP 2 200213000 200213000 single base substitution C A intron_variant LIRI-JP 2 200216230 200216230 single base substitution T C intron_variant LIRI-JP 2 200216787 200216787 single base substitution G A intron_variant LIRI-JP 2 200217280 200217280 single base substitution T C intron_variant LIRI-JP 2 200217769 200217769 single base substitution C T intron_variant LIRI-JP 2 200217798 200217798 single base substitution T C intron_variant LIRI-JP 2 200217915 200217915 single base substitution T C intron_variant LIRI-JP 2 200218322 200218322 single base substitution A C intron_variant LIRI-JP 2 200218526 200218526 single base substitution C T intron_variant LIRI-JP 2 200220180 200220180 single base substitution T C intron_variant LIRI-JP 2 200220909 200220909 single base substitution A T intron_variant LIRI-JP 2 200221005 200221005 single base substitution C T intron_variant LIRI-JP 2 200221760 200221760 single base substitution G T intron_variant LIRI-JP 2 200222598 200222598 single base substitution G T intron_variant LIRI-JP 2 200222980 200222980 single base substitution C T intron_variant LIRI-JP 2 200225623 200225623 single base substitution C G intron_variant LIRI-JP 2 200227372 200227372 single base substitution A G intron_variant LIRI-JP 2 200227431 200227431 single base substitution A G intron_variant LIRI-JP 2 200228175 200228175 single base substitution A T intron_variant LIRI-JP 2 200228352 200228352 single base substitution A G downstream_gene_variant LIRI-JP 2 200228352 200228352 single base substitution A G intron_variant LIRI-JP 2 200229399 200229399 single base substitution T C downstream_gene_variant LIRI-JP 2 200229399 200229399 single base substitution T C intron_variant LIRI-JP 2 200229472 200229472 single base substitution T C downstream_gene_variant LIRI-JP 2 200229472 200229472 single base substitution T C intron_variant LIRI-JP 2 200230290 200230290 single base substitution T A downstream_gene_variant LIRI-JP 2 200230290 200230290 single base substitution T A intron_variant LIRI-JP 2 200232285 200232285 single base substitution T C downstream_gene_variant LIRI-JP 2 200232285 200232285 single base substitution T C intron_variant LIRI-JP 2 200232467 200232467 single base substitution A G downstream_gene_variant LIRI-JP 2 200232467 200232467 single base substitution A G intron_variant LIRI-JP 2 200236188 200236188 single base substitution G A intron_variant LIRI-JP 2 200236188 200236188 single base substitution G A upstream_gene_variant LIRI-JP 2 200236387 200236387 single base substitution G T intron_variant LIRI-JP 2 200236387 200236387 single base substitution G T upstream_gene_variant LIRI-JP 2 200238134 200238134 single base substitution T C intron_variant LIRI-JP 2 200238134 200238134 single base substitution T C upstream_gene_variant LIRI-JP 2 200238157 200238157 single base substitution T G intron_variant LIRI-JP 2 200238157 200238157 single base substitution T G upstream_gene_variant LIRI-JP 2 200238359 200238359 single base substitution T A intron_variant LIRI-JP 2 200238359 200238359 single base substitution T A upstream_gene_variant LIRI-JP 2 200238832 200238832 single base substitution T C intron_variant LIRI-JP 2 200241867 200241867 single base substitution A T intron_variant LIRI-JP 2 200242021 200242021 single base substitution G A intron_variant LIRI-JP 2 200245377 200245377 single base substitution T G intron_variant LIRI-JP 2 200246030 200246030 single base substitution C A intron_variant LIRI-JP 2 200246031 200246031 single base substitution A T intron_variant LIRI-JP 2 200249475 200249475 single base substitution T C intron_variant LIRI-JP 2 200251696 200251696 single base substitution C T intron_variant LIRI-JP 2 200252873 200252873 single base substitution T A intron_variant LIRI-JP 2 200253607 200253607 single base substitution T G intron_variant LIRI-JP 2 200254037 200254037 single base substitution T C intron_variant LIRI-JP 2 200254884 200254884 single base substitution G C intron_variant LIRI-JP 2 200254983 200254983 single base substitution T C intron_variant LIRI-JP 2 200255311 200255311 single base substitution A G intron_variant LIRI-JP 2 200255670 200255670 single base substitution T C downstream_gene_variant LIRI-JP 2 200255670 200255670 single base substitution T C intron_variant LIRI-JP 2 200256320 200256320 single base substitution T C downstream_gene_variant LIRI-JP 2 200256320 200256320 single base substitution T C intron_variant LIRI-JP 2 200257117 200257117 single base substitution A C downstream_gene_variant LIRI-JP 2 200257117 200257117 single base substitution A C intron_variant LIRI-JP 2 200257324 200257324 single base substitution T C downstream_gene_variant LIRI-JP 2 200257324 200257324 single base substitution T C intron_variant LIRI-JP 2 200257574 200257574 single base substitution T C downstream_gene_variant LIRI-JP 2 200257574 200257574 single base substitution T C intron_variant LIRI-JP 2 200258502 200258502 single base substitution G A downstream_gene_variant LIRI-JP 2 200258502 200258502 single base substitution G A intron_variant LIRI-JP 2 200258527 200258527 single base substitution A G downstream_gene_variant LIRI-JP 2 200258527 200258527 single base substitution A G intron_variant LIRI-JP 2 200260955 200260955 deletion of <=200bp C - 3_prime_UTR_variant LIRI-JP 2 200260955 200260955 deletion of <=200bp C - intron_variant LIRI-JP 2 200261741 200261741 single base substitution T C intron_variant LIRI-JP 2 200262832 200262832 single base substitution T C intron_variant LIRI-JP 2 200264322 200264322 single base substitution G C intron_variant LIRI-JP 2 200264728 200264728 single base substitution C T intron_variant LIRI-JP 2 200265584 200265584 single base substitution G T intron_variant LIRI-JP 2 200266692 200266692 single base substitution A C intron_variant LIRI-JP 2 200267100 200267100 single base substitution T C intron_variant LIRI-JP 2 200270837 200270837 single base substitution T C intron_variant LIRI-JP 2 200273220 200273220 single base substitution G T intron_variant LIRI-JP 2 200273697 200273697 single base substitution C T intron_variant LIRI-JP 2 200273704 200273704 single base substitution C T intron_variant LIRI-JP 2 200274323 200274323 single base substitution A G intron_variant LIRI-JP 2 200274581 200274581 single base substitution A C intron_variant LIRI-JP 2 200276801 200276801 single base substitution G T intron_variant LIRI-JP 2 200283234 200283234 single base substitution A G intron_variant LIRI-JP 2 200283418 200283418 single base substitution T C intron_variant LIRI-JP 2 200283434 200283434 single base substitution T C intron_variant LIRI-JP 2 200285274 200285274 single base substitution C T intron_variant LIRI-JP 2 200286126 200286126 single base substitution T C intron_variant LIRI-JP 2 200287103 200287103 single base substitution G T intron_variant LIRI-JP 2 200287168 200287168 single base substitution G T intron_variant LIRI-JP 2 200287169 200287169 single base substitution A G intron_variant LIRI-JP 2 200293872 200293872 single base substitution T G intron_variant LIRI-JP 2 200295647 200295647 single base substitution T C intron_variant LIRI-JP 2 200295677 200295677 single base substitution C T intron_variant LIRI-JP 2 200295736 200295736 single base substitution C T intron_variant LIRI-JP 2 200298050 200298050 single base substitution G C intron_variant LIRI-JP 2 200298541 200298541 single base substitution T C intron_variant LIRI-JP 2 200300517 200300517 single base substitution A G intron_variant LIRI-JP 2 200302896 200302896 single base substitution T G intron_variant LIRI-JP 2 200306155 200306155 single base substitution T A intron_variant LIRI-JP 2 200308761 200308761 single base substitution T C intron_variant LIRI-JP 2 200309071 200309071 single base substitution T A intron_variant LIRI-JP 2 200310378 200310378 single base substitution T C intron_variant LIRI-JP 2 200311881 200311881 single base substitution A G intron_variant LIRI-JP 2 200313661 200313661 single base substitution A G intron_variant LIRI-JP 2 200314496 200314496 deletion of <=200bp C - intron_variant LIRI-JP 2 200314727 200314727 single base substitution T A intron_variant LIRI-JP 2 200314923 200314923 single base substitution T C intron_variant LIRI-JP 2 200315540 200315540 single base substitution A G intron_variant LIRI-JP 2 200316910 200316910 single base substitution A G downstream_gene_variant LIRI-JP 2 200316910 200316910 single base substitution A G intron_variant LIRI-JP 2 200317009 200317009 single base substitution T C downstream_gene_variant LIRI-JP 2 200317009 200317009 single base substitution T C intron_variant LIRI-JP 2 200317450 200317450 single base substitution A C downstream_gene_variant LIRI-JP 2 200317450 200317450 single base substitution A C intron_variant LIRI-JP 2 200317455 200317455 single base substitution T C downstream_gene_variant LIRI-JP 2 200317455 200317455 single base substitution T C intron_variant LIRI-JP 2 200320121 200320121 single base substitution T G downstream_gene_variant LIRI-JP 2 200320121 200320121 single base substitution T G intron_variant LIRI-JP 2 200323821 200323821 single base substitution C G intron_variant LIRI-JP 2 200323821 200323821 single base substitution C G upstream_gene_variant LIRI-JP 2 200324386 200324386 single base substitution A G intron_variant LIRI-JP 2 200324386 200324386 single base substitution A G upstream_gene_variant LIRI-JP 2 200328425 200328425 single base substitution A G intron_variant LIRI-JP 2 200328425 200328425 single base substitution A G upstream_gene_variant LIRI-JP 2 200329421 200329421 single base substitution G A intron_variant LIRI-JP 2 200331060 200331060 single base substitution T A intron_variant LIRI-JP 2 200331060 200331060 single base substitution T A upstream_gene_variant LIRI-JP 2 200331627 200331627 single base substitution G T intron_variant LIRI-JP 2 200331627 200331627 single base substitution G T upstream_gene_variant LIRI-JP 2 200331877 200331877 single base substitution C T intron_variant LIRI-JP 2 200331877 200331877 single base substitution C T upstream_gene_variant LIRI-JP 2 200331920 200331920 single base substitution C T intron_variant LIRI-JP 2 200331920 200331920 single base substitution C T upstream_gene_variant LIRI-JP 2 200332237 200332237 single base substitution T A intron_variant LIRI-JP 2 200332237 200332237 single base substitution T A upstream_gene_variant LIRI-JP 2 200333410 200333410 single base substitution G T intron_variant LIRI-JP 2 200333410 200333410 single base substitution G T upstream_gene_variant LIRI-JP 2 200334991 200334991 single base substitution C G intron_variant LIRI-JP 2 200334998 200334998 single base substitution G T intron_variant LIRI-JP 2 200335526 200335526 single base substitution C T intron_variant LIRI-JP 2 200335901 200335901 single base substitution C T 5_prime_UTR_variant LIRI-JP 2 200338290 200338290 single base substitution G T upstream_gene_variant LIRI-JP 2 200338975 200338975 single base substitution G A upstream_gene_variant LIRI-JP 2 200339940 200339940 single base substitution G A upstream_gene_variant LIRI-JP 2 200339975 200339975 single base substitution C T upstream_gene_variant LIRI-JP 2 200340618 200340618 single base substitution G A upstream_gene_variant LUSC-KR 2 200129583 200129583 single base substitution A T downstream_gene_variant LUSC-KR 2 200130501 200130501 single base substitution C A downstream_gene_variant LUSC-KR 2 200132303 200132303 single base substitution A C downstream_gene_variant LUSC-KR 2 200132576 200132576 single base substitution T C downstream_gene_variant LUSC-KR 2 200133386 200133386 single base substitution G A downstream_gene_variant LUSC-KR 2 200134287 200134287 single base substitution A T 3_prime_UTR_variant LUSC-KR 2 200134287 200134287 single base substitution A T downstream_gene_variant LUSC-KR 2 200134466 200134466 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 200134466 200134466 single base substitution C A downstream_gene_variant LUSC-KR 2 200135602 200135602 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 200135602 200135602 single base substitution G T downstream_gene_variant LUSC-KR 2 200135603 200135603 single base substitution G T 3_prime_UTR_variant LUSC-KR 2 200135603 200135603 single base substitution G T downstream_gene_variant LUSC-KR 2 200137249 200137249 single base substitution G T synonymous_variant L511L 1533C>A LUSC-KR 2 200137249 200137249 single base substitution G T synonymous_variant L570L 1710C>A LUSC-KR 2 200137249 200137249 single base substitution G T synonymous_variant L629L 1887C>A LUSC-KR 2 200141244 200141244 single base substitution G A intron_variant LUSC-KR 2 200142882 200142882 single base substitution C A intron_variant LUSC-KR 2 200146739 200146739 single base substitution G A intron_variant LUSC-KR 2 200148861 200148861 single base substitution G A intron_variant LUSC-KR 2 200149378 200149378 single base substitution A C intron_variant LUSC-KR 2 200151160 200151160 single base substitution C G intron_variant LUSC-KR 2 200151278 200151278 single base substitution A T intron_variant LUSC-KR 2 200152965 200152965 single base substitution C A intron_variant LUSC-KR 2 200152983 200152983 single base substitution G C intron_variant LUSC-KR 2 200153821 200153821 single base substitution G A intron_variant LUSC-KR 2 200155242 200155242 single base substitution A G intron_variant LUSC-KR 2 200159702 200159702 single base substitution T C intron_variant LUSC-KR 2 200162942 200162942 single base substitution C A intron_variant LUSC-KR 2 200163561 200163561 single base substitution G T intron_variant LUSC-KR 2 200163978 200163978 single base substitution C G intron_variant LUSC-KR 2 200164224 200164224 single base substitution T C intron_variant LUSC-KR 2 200165526 200165526 single base substitution G C intron_variant LUSC-KR 2 200165856 200165856 single base substitution C A intron_variant LUSC-KR 2 200166910 200166910 single base substitution C G intron_variant LUSC-KR 2 200166927 200166927 single base substitution G T intron_variant LUSC-KR 2 200168702 200168702 single base substitution G C downstream_gene_variant LUSC-KR 2 200168702 200168702 single base substitution G C intron_variant LUSC-KR 2 200169239 200169239 single base substitution C A downstream_gene_variant LUSC-KR 2 200169239 200169239 single base substitution C A intron_variant LUSC-KR 2 200169387 200169387 single base substitution G C downstream_gene_variant LUSC-KR 2 200169387 200169387 single base substitution G C intron_variant LUSC-KR 2 200169770 200169770 single base substitution C A downstream_gene_variant LUSC-KR 2 200169770 200169770 single base substitution C A intron_variant LUSC-KR 2 200170542 200170542 single base substitution A G downstream_gene_variant LUSC-KR 2 200170542 200170542 single base substitution A G intron_variant LUSC-KR 2 200171990 200171990 single base substitution C A downstream_gene_variant LUSC-KR 2 200171990 200171990 single base substitution C A intron_variant LUSC-KR 2 200172232 200172232 single base substitution C T downstream_gene_variant LUSC-KR 2 200172232 200172232 single base substitution C T intron_variant LUSC-KR 2 200172623 200172623 single base substitution C A downstream_gene_variant LUSC-KR 2 200172623 200172623 single base substitution C A intron_variant LUSC-KR 2 200172847 200172847 single base substitution C G downstream_gene_variant LUSC-KR 2 200172847 200172847 single base substitution C G intron_variant LUSC-KR 2 200173513 200173513 single base substitution G T downstream_gene_variant LUSC-KR 2 200173513 200173513 single base substitution G T missense_variant H452Q 1356C>A LUSC-KR 2 200173513 200173513 single base substitution G T missense_variant H511Q 1533C>A LUSC-KR 2 200173513 200173513 single base substitution G T missense_variant H570Q 1710C>A LUSC-KR 2 200174373 200174373 single base substitution G A intron_variant LUSC-KR 2 200175971 200175971 single base substitution G T intron_variant LUSC-KR 2 200176487 200176487 single base substitution C T intron_variant LUSC-KR 2 200178084 200178084 single base substitution A T intron_variant LUSC-KR 2 200179295 200179295 single base substitution C A intron_variant LUSC-KR 2 200179596 200179596 single base substitution T A intron_variant LUSC-KR 2 200180293 200180293 single base substitution C A intron_variant LUSC-KR 2 200181746 200181746 single base substitution C G intron_variant LUSC-KR 2 200187928 200187928 single base substitution A C intron_variant LUSC-KR 2 200188201 200188201 single base substitution C T intron_variant LUSC-KR 2 200190226 200190226 single base substitution C G intron_variant LUSC-KR 2 200190445 200190445 single base substitution C G intron_variant LUSC-KR 2 200191286 200191286 single base substitution C T intron_variant LUSC-KR 2 200193100 200193100 single base substitution C A intron_variant LUSC-KR 2 200193111 200193111 single base substitution A T intron_variant LUSC-KR 2 200193470 200193470 single base substitution C A exon_variant LUSC-KR 2 200193470 200193470 single base substitution C A missense_variant S328I 983G>T LUSC-KR 2 200193470 200193470 single base substitution C A missense_variant S387I 1160G>T LUSC-KR 2 200193470 200193470 single base substitution C A missense_variant S446I 1337G>T LUSC-KR 2 200196598 200196598 single base substitution C A intron_variant LUSC-KR 2 200196598 200196598 single base substitution C A upstream_gene_variant LUSC-KR 2 200198498 200198498 single base substitution C G intron_variant LUSC-KR 2 200198498 200198498 single base substitution C G upstream_gene_variant LUSC-KR 2 200199318 200199318 single base substitution C A intron_variant LUSC-KR 2 200203090 200203090 single base substitution T A intron_variant LUSC-KR 2 200203300 200203300 single base substitution A C intron_variant LUSC-KR 2 200203524 200203524 single base substitution C A intron_variant LUSC-KR 2 200203615 200203615 single base substitution T A intron_variant LUSC-KR 2 200205743 200205743 single base substitution T C intron_variant LUSC-KR 2 200208753 200208753 single base substitution A G downstream_gene_variant LUSC-KR 2 200208753 200208753 single base substitution A G intron_variant LUSC-KR 2 200211146 200211146 single base substitution T C downstream_gene_variant LUSC-KR 2 200211146 200211146 single base substitution T C intron_variant LUSC-KR 2 200211560 200211560 single base substitution C T downstream_gene_variant LUSC-KR 2 200211560 200211560 single base substitution C T intron_variant LUSC-KR 2 200211606 200211606 single base substitution G T exon_variant LUSC-KR 2 200211606 200211606 single base substitution G T intron_variant LUSC-KR 2 200212780 200212780 single base substitution A G exon_variant LUSC-KR 2 200212780 200212780 single base substitution A G intron_variant LUSC-KR 2 200213294 200213294 single base substitution G A exon_variant LUSC-KR 2 200213294 200213294 single base substitution G A intron_variant LUSC-KR 2 200216008 200216008 single base substitution C G intron_variant LUSC-KR 2 200217896 200217896 single base substitution G T intron_variant LUSC-KR 2 200218171 200218171 single base substitution C A intron_variant LUSC-KR 2 200219678 200219678 single base substitution G A intron_variant LUSC-KR 2 200219835 200219835 single base substitution T C intron_variant LUSC-KR 2 200225485 200225485 single base substitution T C intron_variant LUSC-KR 2 200227438 200227438 single base substitution C A intron_variant LUSC-KR 2 200229082 200229082 single base substitution C T downstream_gene_variant LUSC-KR 2 200229082 200229082 single base substitution C T intron_variant LUSC-KR 2 200229145 200229145 single base substitution T G downstream_gene_variant LUSC-KR 2 200229145 200229145 single base substitution T G intron_variant LUSC-KR 2 200231229 200231229 single base substitution C A downstream_gene_variant LUSC-KR 2 200231229 200231229 single base substitution C A intron_variant LUSC-KR 2 200231476 200231476 single base substitution A G downstream_gene_variant LUSC-KR 2 200231476 200231476 single base substitution A G intron_variant LUSC-KR 2 200231646 200231646 single base substitution A C downstream_gene_variant LUSC-KR 2 200231646 200231646 single base substitution A C intron_variant LUSC-KR 2 200231752 200231752 single base substitution C T downstream_gene_variant LUSC-KR 2 200231752 200231752 single base substitution C T intron_variant LUSC-KR 2 200233574 200233574 single base substitution C A exon_variant LUSC-KR 2 200233574 200233574 single base substitution C A intron_variant LUSC-KR 2 200236160 200236160 single base substitution C T intron_variant LUSC-KR 2 200236160 200236160 single base substitution C T upstream_gene_variant LUSC-KR 2 200239576 200239576 single base substitution A C intron_variant LUSC-KR 2 200240152 200240152 single base substitution C A intron_variant LUSC-KR 2 200240736 200240736 single base substitution T C intron_variant LUSC-KR 2 200242413 200242413 single base substitution T A intron_variant LUSC-KR 2 200242738 200242738 single base substitution G A intron_variant LUSC-KR 2 200244877 200244877 single base substitution G A intron_variant LUSC-KR 2 200244943 200244943 single base substitution A C intron_variant LUSC-KR 2 200245264 200245264 single base substitution C A intron_variant LUSC-KR 2 200246318 200246318 single base substitution C T intron_variant LUSC-KR 2 200248317 200248317 single base substitution G A intron_variant LUSC-KR 2 200248418 200248418 single base substitution G C intron_variant LUSC-KR 2 200249689 200249689 single base substitution C A intron_variant LUSC-KR 2 200249909 200249909 single base substitution G T intron_variant LUSC-KR 2 200250809 200250809 single base substitution G A intron_variant LUSC-KR 2 200256254 200256254 single base substitution G C downstream_gene_variant LUSC-KR 2 200256254 200256254 single base substitution G C intron_variant LUSC-KR 2 200256267 200256267 single base substitution A G downstream_gene_variant LUSC-KR 2 200256267 200256267 single base substitution A G intron_variant LUSC-KR 2 200256391 200256391 single base substitution T A downstream_gene_variant LUSC-KR 2 200256391 200256391 single base substitution T A intron_variant LUSC-KR 2 200262547 200262547 single base substitution G T exon_variant LUSC-KR 2 200262547 200262547 single base substitution G T intron_variant LUSC-KR 2 200265677 200265677 single base substitution G A intron_variant LUSC-KR 2 200265678 200265678 single base substitution G T intron_variant LUSC-KR 2 200267805 200267805 single base substitution T A intron_variant LUSC-KR 2 200269820 200269820 single base substitution G A intron_variant LUSC-KR 2 200271659 200271659 single base substitution A C intron_variant LUSC-KR 2 200271982 200271982 single base substitution C A intron_variant LUSC-KR 2 200272232 200272232 single base substitution G C intron_variant LUSC-KR 2 200272573 200272573 single base substitution G C intron_variant LUSC-KR 2 200273465 200273465 single base substitution T C intron_variant LUSC-KR 2 200274398 200274398 single base substitution T C intron_variant LUSC-KR 2 200276416 200276416 single base substitution C A intron_variant LUSC-KR 2 200277694 200277694 single base substitution C G intron_variant LUSC-KR 2 200278726 200278726 single base substitution C A intron_variant LUSC-KR 2 200278727 200278727 single base substitution C A intron_variant LUSC-KR 2 200279075 200279075 single base substitution G A intron_variant LUSC-KR 2 200282723 200282723 single base substitution G C intron_variant LUSC-KR 2 200284431 200284431 single base substitution T C intron_variant LUSC-KR 2 200284768 200284768 single base substitution T C intron_variant LUSC-KR 2 200284860 200284860 single base substitution T A intron_variant LUSC-KR 2 200285873 200285873 single base substitution G C intron_variant LUSC-KR 2 200286418 200286418 single base substitution C G intron_variant LUSC-KR 2 200287832 200287832 single base substitution C A intron_variant LUSC-KR 2 200288321 200288321 single base substitution G T intron_variant LUSC-KR 2 200288702 200288702 single base substitution T A intron_variant LUSC-KR 2 200288702 200288702 single base substitution T A upstream_gene_variant LUSC-KR 2 200289102 200289102 single base substitution A C intron_variant LUSC-KR 2 200289102 200289102 single base substitution A C upstream_gene_variant LUSC-KR 2 200290806 200290806 single base substitution C G intron_variant LUSC-KR 2 200290806 200290806 single base substitution C G upstream_gene_variant LUSC-KR 2 200298075 200298075 single base substitution G T exon_variant LUSC-KR 2 200298075 200298075 single base substitution G T intron_variant LUSC-KR 2 200298075 200298075 single base substitution G T missense_variant A111E 332C>A LUSC-KR 2 200300896 200300896 single base substitution C T intron_variant LUSC-KR 2 200301518 200301518 single base substitution C A intron_variant LUSC-KR 2 200303810 200303810 single base substitution G T intron_variant LUSC-KR 2 200304367 200304367 single base substitution C A intron_variant LUSC-KR 2 200309831 200309831 single base substitution C A intron_variant LUSC-KR 2 200310697 200310697 single base substitution A G intron_variant LUSC-KR 2 200310928 200310928 single base substitution C A intron_variant LUSC-KR 2 200314979 200314979 single base substitution A C intron_variant LUSC-KR 2 200316192 200316192 single base substitution G A downstream_gene_variant LUSC-KR 2 200316192 200316192 single base substitution G A intron_variant LUSC-KR 2 200316377 200316377 single base substitution A C downstream_gene_variant LUSC-KR 2 200316377 200316377 single base substitution A C intron_variant LUSC-KR 2 200316781 200316781 single base substitution G C downstream_gene_variant LUSC-KR 2 200316781 200316781 single base substitution G C intron_variant LUSC-KR 2 200318375 200318375 single base substitution A G downstream_gene_variant LUSC-KR 2 200318375 200318375 single base substitution A G intron_variant LUSC-KR 2 200320580 200320580 single base substitution C T downstream_gene_variant LUSC-KR 2 200320580 200320580 single base substitution C T intron_variant LUSC-KR 2 200323043 200323043 single base substitution G A 5_prime_UTR_variant LUSC-KR 2 200323043 200323043 single base substitution G A intron_variant LUSC-KR 2 200323043 200323043 single base substitution G A upstream_gene_variant LUSC-KR 2 200323443 200323443 single base substitution C T 5_prime_UTR_variant LUSC-KR 2 200323443 200323443 single base substitution C T intron_variant LUSC-KR 2 200323443 200323443 single base substitution C T upstream_gene_variant LUSC-KR 2 200328306 200328306 single base substitution G A intron_variant LUSC-KR 2 200328306 200328306 single base substitution G A upstream_gene_variant LUSC-KR 2 200330382 200330382 single base substitution A G intron_variant LUSC-KR 2 200330382 200330382 single base substitution A G upstream_gene_variant LUSC-KR 2 200332605 200332605 single base substitution G T intron_variant LUSC-KR 2 200332605 200332605 single base substitution G T upstream_gene_variant LUSC-KR 2 200336214 200336214 single base substitution C A upstream_gene_variant LUSC-KR 2 200336261 200336261 single base substitution C T upstream_gene_variant LUSC-KR 2 200336390 200336390 single base substitution G T upstream_gene_variant LUSC-KR 2 200336824 200336824 single base substitution G T upstream_gene_variant LUSC-KR 2 200337417 200337417 single base substitution C T upstream_gene_variant LUSC-KR 2 200338889 200338889 single base substitution T A upstream_gene_variant LUSC-KR 2 200339379 200339379 single base substitution G A upstream_gene_variant LUSC-KR 2 200339505 200339505 single base substitution G A upstream_gene_variant LUSC-KR 2 200340260 200340260 single base substitution G T upstream_gene_variant LUSC-KR 2 200340261 200340261 single base substitution G T upstream_gene_variant LUSC-US 2 200137131 200137131 single base substitution G A missense_variant H551Y 1651C>T LUSC-US 2 200137131 200137131 single base substitution G A missense_variant H610Y 1828C>T LUSC-US 2 200137131 200137131 single base substitution G A missense_variant H669Y 2005C>T LUSC-US 2 200137256 200137256 single base substitution C G missense_variant G509A 1526G>C LUSC-US 2 200137256 200137256 single base substitution C G missense_variant G568A 1703G>C LUSC-US 2 200137256 200137256 single base substitution C G missense_variant G627A 1880G>C LUSC-US 2 200137310 200137310 single base substitution T C missense_variant D491G 1472A>G LUSC-US 2 200137310 200137310 single base substitution T C missense_variant D550G 1649A>G LUSC-US 2 200137310 200137310 single base substitution T C missense_variant D609G 1826A>G LUSC-US 2 200137379 200137379 single base substitution T A missense_variant Q468L 1403A>T LUSC-US 2 200137379 200137379 single base substitution T A missense_variant Q527L 1580A>T LUSC-US 2 200137379 200137379 single base substitution T A missense_variant Q586L 1757A>T LUSC-US 2 200193475 200193475 single base substitution A G exon_variant LUSC-US 2 200193475 200193475 single base substitution A G synonymous_variant N326N 978T>C LUSC-US 2 200193475 200193475 single base substitution A G synonymous_variant N385N 1155T>C LUSC-US 2 200193475 200193475 single base substitution A G synonymous_variant N444N 1332T>C LUSC-US 2 200193544 200193544 single base substitution G A exon_variant LUSC-US 2 200193544 200193544 single base substitution G A synonymous_variant F303F 909C>T LUSC-US 2 200193544 200193544 single base substitution G A synonymous_variant F362F 1086C>T LUSC-US 2 200193544 200193544 single base substitution G A synonymous_variant F421F 1263C>T LUSC-US 2 200193597 200193597 single base substitution G T exon_variant LUSC-US 2 200193597 200193597 single base substitution G T missense_variant P286T 856C>A LUSC-US 2 200193597 200193597 single base substitution G T missense_variant P345T 1033C>A LUSC-US 2 200193597 200193597 single base substitution G T missense_variant P404T 1210C>A LUSC-US 2 200213525 200213525 single base substitution C T exon_variant LUSC-US 2 200213525 200213525 single base substitution C T missense_variant V240M 718G>A LUSC-US 2 200213525 200213525 single base substitution C T missense_variant V299M 895G>A LUSC-US 2 200213525 200213525 single base substitution C T missense_variant V358M 1072G>A LUSC-US 2 200233368 200233368 single base substitution C G exon_variant LUSC-US 2 200233368 200233368 single base substitution C G intron_variant LUSC-US 2 200233368 200233368 single base substitution C G missense_variant Q161H 483G>C LUSC-US 2 200233368 200233368 single base substitution C G missense_variant Q220H 660G>C LUSC-US 2 200298113 200298113 single base substitution C A exon_variant LUSC-US 2 200298113 200298113 single base substitution C A intron_variant LUSC-US 2 200298113 200298113 single base substitution C A missense_variant E98D 294G>T LUSC-US 2 200298128 200298128 single base substitution A G exon_variant LUSC-US 2 200298128 200298128 single base substitution A G intron_variant LUSC-US 2 200298128 200298128 single base substitution A G synonymous_variant F93F 279T>C LUSC-US 2 200298194 200298194 single base substitution G C exon_variant LUSC-US 2 200298194 200298194 single base substitution G C intron_variant LUSC-US 2 200298194 200298194 single base substitution G C synonymous_variant G71G 213C>G MALY-DE 2 200134362 200134362 single base substitution T C 3_prime_UTR_variant MALY-DE 2 200134362 200134362 single base substitution T C downstream_gene_variant MALY-DE 2 200134817 200134817 single base substitution G A 3_prime_UTR_variant MALY-DE 2 200134817 200134817 single base substitution G A downstream_gene_variant MALY-DE 2 200135087 200135087 deletion of <=200bp T - 3_prime_UTR_variant MALY-DE 2 200135087 200135087 deletion of <=200bp T - downstream_gene_variant MALY-DE 2 200135514 200135514 single base substitution T C 3_prime_UTR_variant MALY-DE 2 200135514 200135514 single base substitution T C downstream_gene_variant MALY-DE 2 200139084 200139084 insertion of <=200bp - A intron_variant MALY-DE 2 200139136 200139136 single base substitution A G intron_variant MALY-DE 2 200144395 200144395 single base substitution G A intron_variant MALY-DE 2 200146915 200146915 single base substitution T C intron_variant MALY-DE 2 200148529 200148529 single base substitution G C intron_variant MALY-DE 2 200157627 200157627 single base substitution C T intron_variant MALY-DE 2 200158171 200158171 deletion of <=200bp A - intron_variant MALY-DE 2 200158612 200158612 insertion of <=200bp - A intron_variant MALY-DE 2 200159881 200159881 single base substitution A C intron_variant MALY-DE 2 200163727 200163727 single base substitution G A intron_variant MALY-DE 2 200164711 200164711 single base substitution A C intron_variant MALY-DE 2 200166561 200166561 single base substitution A G intron_variant MALY-DE 2 200169409 200169409 single base substitution T A downstream_gene_variant MALY-DE 2 200169409 200169409 single base substitution T A intron_variant MALY-DE 2 200170599 200170599 single base substitution G T downstream_gene_variant MALY-DE 2 200170599 200170599 single base substitution G T intron_variant MALY-DE 2 200170606 200170606 single base substitution G A downstream_gene_variant MALY-DE 2 200170606 200170606 single base substitution G A intron_variant MALY-DE 2 200171530 200171530 single base substitution A T downstream_gene_variant MALY-DE 2 200171530 200171530 single base substitution A T intron_variant MALY-DE 2 200173089 200173089 single base substitution T C downstream_gene_variant MALY-DE 2 200173089 200173089 single base substitution T C intron_variant MALY-DE 2 200176961 200176961 single base substitution T G intron_variant MALY-DE 2 200177477 200177477 single base substitution G A intron_variant MALY-DE 2 200178173 200178173 single base substitution A G intron_variant MALY-DE 2 200179779 200179779 single base substitution A C intron_variant MALY-DE 2 200180422 200180422 single base substitution A C intron_variant MALY-DE 2 200180510 200180510 single base substitution T A intron_variant MALY-DE 2 200183992 200183992 single base substitution C A intron_variant MALY-DE 2 200185809 200185809 single base substitution G A intron_variant MALY-DE 2 200186497 200186497 insertion of <=200bp - A intron_variant MALY-DE 2 200186497 200186497 single base substitution A T intron_variant MALY-DE 2 200186766 200186766 single base substitution A C intron_variant MALY-DE 2 200187292 200187292 single base substitution C T intron_variant MALY-DE 2 200191317 200191317 single base substitution T A intron_variant MALY-DE 2 200191491 200191491 deletion of <=200bp T - intron_variant MALY-DE 2 200192371 200192371 single base substitution C T intron_variant MALY-DE 2 200192481 200192481 single base substitution C T intron_variant MALY-DE 2 200196412 200196412 single base substitution T A intron_variant MALY-DE 2 200196412 200196412 single base substitution T A upstream_gene_variant MALY-DE 2 200196716 200196716 single base substitution C T intron_variant MALY-DE 2 200196716 200196716 single base substitution C T upstream_gene_variant MALY-DE 2 200198813 200198813 single base substitution G C intron_variant MALY-DE 2 200200664 200200664 single base substitution G C intron_variant MALY-DE 2 200201553 200201553 single base substitution A G intron_variant MALY-DE 2 200203205 200203205 single base substitution C G intron_variant MALY-DE 2 200203386 200203386 single base substitution A G intron_variant MALY-DE 2 200204509 200204509 single base substitution C A intron_variant MALY-DE 2 200208468 200208468 single base substitution C T downstream_gene_variant MALY-DE 2 200208468 200208468 single base substitution C T intron_variant MALY-DE 2 200212814 200212814 single base substitution T G exon_variant MALY-DE 2 200212814 200212814 single base substitution T G intron_variant MALY-DE 2 200213523 200213523 single base substitution C A exon_variant MALY-DE 2 200213523 200213523 single base substitution C A synonymous_variant V240V 720G>T MALY-DE 2 200213523 200213523 single base substitution C A synonymous_variant V299V 897G>T MALY-DE 2 200213523 200213523 single base substitution C A synonymous_variant V358V 1074G>T MALY-DE 2 200216519 200216519 single base substitution A C intron_variant MALY-DE 2 200216656 200216656 single base substitution T C intron_variant MALY-DE 2 200218177 200218177 single base substitution T G intron_variant MALY-DE 2 200218666 200218666 single base substitution A G intron_variant MALY-DE 2 200219339 200219339 single base substitution C T intron_variant MALY-DE 2 200220134 200220134 single base substitution A T intron_variant MALY-DE 2 200221064 200221064 single base substitution C T intron_variant MALY-DE 2 200223178 200223178 single base substitution G A intron_variant MALY-DE 2 200223339 200223339 single base substitution C T intron_variant MALY-DE 2 200226476 200226476 single base substitution A C intron_variant MALY-DE 2 200227809 200227809 single base substitution C T intron_variant MALY-DE 2 200229550 200229550 single base substitution G T downstream_gene_variant MALY-DE 2 200229550 200229550 single base substitution G T intron_variant MALY-DE 2 200232189 200232189 single base substitution A C downstream_gene_variant MALY-DE 2 200232189 200232189 single base substitution A C intron_variant MALY-DE 2 200239982 200239982 single base substitution C T intron_variant MALY-DE 2 200241689 200241689 single base substitution G A intron_variant MALY-DE 2 200242961 200242961 single base substitution T G intron_variant MALY-DE 2 200243328 200243328 insertion of <=200bp - T intron_variant MALY-DE 2 200245105 200245105 single base substitution T G exon_variant MALY-DE 2 200245105 200245105 single base substitution T G intron_variant MALY-DE 2 200245105 200245105 single base substitution T G missense_variant K134N 402A>C MALY-DE 2 200245105 200245105 single base substitution T G missense_variant K193N 579A>C MALY-DE 2 200245325 200245325 deletion of <=200bp A - intron_variant MALY-DE 2 200246642 200246642 single base substitution C G intron_variant MALY-DE 2 200247078 200247078 single base substitution G A intron_variant MALY-DE 2 200248312 200248312 insertion of <=200bp - G intron_variant MALY-DE 2 200251214 200251214 single base substitution G T intron_variant MALY-DE 2 200254466 200254469 deletion of <=200bp TCTA - intron_variant MALY-DE 2 200254570 200254570 deletion of <=200bp T - intron_variant MALY-DE 2 200255078 200255078 single base substitution T C intron_variant MALY-DE 2 200258465 200258465 insertion of <=200bp - A downstream_gene_variant MALY-DE 2 200258465 200258465 insertion of <=200bp - A intron_variant MALY-DE 2 200259193 200259193 single base substitution A G downstream_gene_variant MALY-DE 2 200259193 200259193 single base substitution A G intron_variant MALY-DE 2 200259561 200259561 single base substitution G T downstream_gene_variant MALY-DE 2 200259561 200259561 single base substitution G T intron_variant MALY-DE 2 200263180 200263180 single base substitution C T intron_variant MALY-DE 2 200266263 200266263 insertion of <=200bp - A intron_variant MALY-DE 2 200267707 200267707 single base substitution T C intron_variant MALY-DE 2 200268384 200268384 single base substitution A C intron_variant MALY-DE 2 200270694 200270694 single base substitution T G intron_variant MALY-DE 2 200272072 200272072 single base substitution C A intron_variant MALY-DE 2 200272287 200272287 single base substitution G A intron_variant MALY-DE 2 200277445 200277445 insertion of <=200bp - A intron_variant MALY-DE 2 200280131 200280131 single base substitution T A intron_variant MALY-DE 2 200280467 200280467 single base substitution G A intron_variant MALY-DE 2 200283335 200283335 single base substitution C T intron_variant MALY-DE 2 200285398 200285398 single base substitution A G intron_variant MALY-DE 2 200289090 200289090 single base substitution C G intron_variant MALY-DE 2 200289090 200289090 single base substitution C G upstream_gene_variant MALY-DE 2 200292056 200292056 insertion of <=200bp - A intron_variant MALY-DE 2 200292056 200292056 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 200292201 200292201 deletion of <=200bp T - intron_variant MALY-DE 2 200292201 200292201 deletion of <=200bp T - upstream_gene_variant MALY-DE 2 200294031 200294031 single base substitution C T intron_variant MALY-DE 2 200294633 200294633 single base substitution G A intron_variant MALY-DE 2 200294675 200294675 single base substitution A C intron_variant MALY-DE 2 200295310 200295310 single base substitution T A intron_variant MALY-DE 2 200297642 200297642 deletion of <=200bp T - intron_variant MALY-DE 2 200297664 200297664 single base substitution A T intron_variant MALY-DE 2 200300744 200300744 single base substitution A G intron_variant MALY-DE 2 200301504 200301504 single base substitution A G intron_variant MALY-DE 2 200301921 200301921 single base substitution A G intron_variant MALY-DE 2 200308431 200308431 single base substitution C T intron_variant MALY-DE 2 200309998 200309998 single base substitution A G intron_variant MALY-DE 2 200313945 200313945 single base substitution C T intron_variant MALY-DE 2 200315815 200315815 insertion of <=200bp - AC downstream_gene_variant MALY-DE 2 200315815 200315815 insertion of <=200bp - AC intron_variant MALY-DE 2 200315815 200315816 deletion of <=200bp AC - downstream_gene_variant MALY-DE 2 200315815 200315816 deletion of <=200bp AC - intron_variant MALY-DE 2 200316282 200316282 single base substitution C G downstream_gene_variant MALY-DE 2 200316282 200316282 single base substitution C G intron_variant MALY-DE 2 200318813 200318813 single base substitution G A downstream_gene_variant MALY-DE 2 200318813 200318813 single base substitution G A intron_variant MALY-DE 2 200319680 200319680 insertion of <=200bp - A downstream_gene_variant MALY-DE 2 200319680 200319680 insertion of <=200bp - A intron_variant MALY-DE 2 200320954 200320954 single base substitution G A intron_variant MALY-DE 2 200320954 200320954 single base substitution G A upstream_gene_variant MALY-DE 2 200322817 200322817 single base substitution T C 5_prime_UTR_variant MALY-DE 2 200322817 200322817 single base substitution T C intron_variant MALY-DE 2 200322817 200322817 single base substitution T C upstream_gene_variant MALY-DE 2 200323602 200323602 single base substitution G A intron_variant MALY-DE 2 200323602 200323602 single base substitution G A upstream_gene_variant MALY-DE 2 200330801 200330802 deletion of <=200bp AG - intron_variant MALY-DE 2 200330801 200330802 deletion of <=200bp AG - upstream_gene_variant MALY-DE 2 200336626 200336626 single base substitution T C upstream_gene_variant MALY-DE 2 200337433 200337433 single base substitution T C upstream_gene_variant MALY-DE 2 200338497 200338497 single base substitution A C upstream_gene_variant MELA-AU 2 200129245 200129245 single base substitution G A downstream_gene_variant MELA-AU 2 200129285 200129285 single base substitution G A downstream_gene_variant MELA-AU 2 200129382 200129382 single base substitution G A downstream_gene_variant MELA-AU 2 200129427 200129427 single base substitution C T downstream_gene_variant MELA-AU 2 200129447 200129447 single base substitution G A downstream_gene_variant MELA-AU 2 200129625 200129625 single base substitution C T downstream_gene_variant MELA-AU 2 200129918 200129918 single base substitution G A downstream_gene_variant MELA-AU 2 200129920 200129920 single base substitution G A downstream_gene_variant MELA-AU 2 200130267 200130267 single base substitution C T downstream_gene_variant MELA-AU 2 200130345 200130345 single base substitution C T downstream_gene_variant MELA-AU 2 200130396 200130396 single base substitution G A downstream_gene_variant MELA-AU 2 200130582 200130582 single base substitution T C downstream_gene_variant MELA-AU 2 200130631 200130631 single base substitution C T downstream_gene_variant MELA-AU 2 200130802 200130802 single base substitution G A downstream_gene_variant MELA-AU 2 200130848 200130848 single base substitution G A downstream_gene_variant MELA-AU 2 200130849 200130849 single base substitution G A downstream_gene_variant MELA-AU 2 200130895 200130895 single base substitution C T downstream_gene_variant MELA-AU 2 200130901 200130901 single base substitution G A downstream_gene_variant MELA-AU 2 200130918 200130918 single base substitution C T downstream_gene_variant MELA-AU 2 200130956 200130956 single base substitution C T downstream_gene_variant MELA-AU 2 200130979 200130979 single base substitution G A downstream_gene_variant MELA-AU 2 200131108 200131108 single base substitution C T downstream_gene_variant MELA-AU 2 200131246 200131246 single base substitution C T downstream_gene_variant MELA-AU 2 200131298 200131298 single base substitution C T downstream_gene_variant MELA-AU 2 200131619 200131619 single base substitution G A downstream_gene_variant MELA-AU 2 200131776 200131776 single base substitution G A downstream_gene_variant MELA-AU 2 200132417 200132417 single base substitution G A downstream_gene_variant MELA-AU 2 200132483 200132483 single base substitution G A downstream_gene_variant MELA-AU 2 200132578 200132578 single base substitution G A downstream_gene_variant MELA-AU 2 200132958 200132958 single base substitution A T downstream_gene_variant MELA-AU 2 200133120 200133120 single base substitution C T downstream_gene_variant MELA-AU 2 200133334 200133334 single base substitution T A downstream_gene_variant MELA-AU 2 200133352 200133352 single base substitution C T downstream_gene_variant MELA-AU 2 200133420 200133420 single base substitution A C downstream_gene_variant MELA-AU 2 200133572 200133572 single base substitution G A downstream_gene_variant MELA-AU 2 200133656 200133656 single base substitution G A downstream_gene_variant MELA-AU 2 200133735 200133735 single base substitution C T downstream_gene_variant MELA-AU 2 200134078 200134078 single base substitution G A downstream_gene_variant MELA-AU 2 200134128 200134128 single base substitution G A downstream_gene_variant MELA-AU 2 200134169 200134169 single base substitution G A downstream_gene_variant MELA-AU 2 200134361 200134361 single base substitution T G 3_prime_UTR_variant MELA-AU 2 200134361 200134361 single base substitution T G downstream_gene_variant MELA-AU 2 200134439 200134439 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200134439 200134439 single base substitution G A downstream_gene_variant MELA-AU 2 200134547 200134547 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200134547 200134547 single base substitution G A downstream_gene_variant MELA-AU 2 200134647 200134647 single base substitution A C 3_prime_UTR_variant MELA-AU 2 200134647 200134647 single base substitution A C downstream_gene_variant MELA-AU 2 200134827 200134827 single base substitution C T 3_prime_UTR_variant MELA-AU 2 200134827 200134827 single base substitution C T downstream_gene_variant MELA-AU 2 200134880 200134880 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200134880 200134880 single base substitution G A downstream_gene_variant MELA-AU 2 200134973 200134973 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200134973 200134973 single base substitution G A downstream_gene_variant MELA-AU 2 200135044 200135045 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 200135044 200135045 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 200135329 200135329 single base substitution C T 3_prime_UTR_variant MELA-AU 2 200135329 200135329 single base substitution C T downstream_gene_variant MELA-AU 2 200135487 200135487 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200135487 200135487 single base substitution G A downstream_gene_variant MELA-AU 2 200135507 200135507 single base substitution T A 3_prime_UTR_variant MELA-AU 2 200135507 200135507 single base substitution T A downstream_gene_variant MELA-AU 2 200135654 200135654 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200135654 200135654 single base substitution G A downstream_gene_variant MELA-AU 2 200135944 200135944 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200135944 200135944 single base substitution G A downstream_gene_variant MELA-AU 2 200136375 200136375 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200136375 200136375 single base substitution G A downstream_gene_variant MELA-AU 2 200136551 200136551 single base substitution C T 3_prime_UTR_variant MELA-AU 2 200136551 200136551 single base substitution C T downstream_gene_variant MELA-AU 2 200136615 200136615 single base substitution G T 3_prime_UTR_variant MELA-AU 2 200136615 200136615 single base substitution G T downstream_gene_variant MELA-AU 2 200136952 200136952 single base substitution G A synonymous_variant A610A 1830C>T MELA-AU 2 200136952 200136952 single base substitution G A synonymous_variant A669A 2007C>T MELA-AU 2 200136952 200136952 single base substitution G A synonymous_variant A728A 2184C>T MELA-AU 2 200137354 200137354 single base substitution G A synonymous_variant S476S 1428C>T MELA-AU 2 200137354 200137354 single base substitution G A synonymous_variant S535S 1605C>T MELA-AU 2 200137354 200137354 single base substitution G A synonymous_variant S594S 1782C>T MELA-AU 2 200137717 200137717 single base substitution C T intron_variant MELA-AU 2 200137754 200137754 single base substitution G A intron_variant MELA-AU 2 200137775 200137775 single base substitution C T intron_variant MELA-AU 2 200137976 200137976 single base substitution G A intron_variant MELA-AU 2 200138423 200138423 single base substitution G C intron_variant MELA-AU 2 200138878 200138878 single base substitution G T intron_variant MELA-AU 2 200139607 200139607 single base substitution G A intron_variant MELA-AU 2 200139619 200139619 single base substitution G A intron_variant MELA-AU 2 200139694 200139694 single base substitution G A intron_variant MELA-AU 2 200139799 200139799 single base substitution G A intron_variant MELA-AU 2 200140035 200140035 single base substitution C T intron_variant MELA-AU 2 200140205 200140205 single base substitution A G intron_variant MELA-AU 2 200141072 200141072 single base substitution C T intron_variant MELA-AU 2 200141073 200141073 single base substitution G A intron_variant MELA-AU 2 200141153 200141153 single base substitution G A intron_variant MELA-AU 2 200141169 200141169 single base substitution C T intron_variant MELA-AU 2 200141214 200141214 single base substitution G A intron_variant MELA-AU 2 200141662 200141662 single base substitution C T intron_variant MELA-AU 2 200141857 200141857 single base substitution G A intron_variant MELA-AU 2 200141889 200141889 single base substitution G A intron_variant MELA-AU 2 200141925 200141925 single base substitution G A intron_variant MELA-AU 2 200141958 200141958 single base substitution C T intron_variant MELA-AU 2 200143278 200143278 single base substitution C T intron_variant MELA-AU 2 200143386 200143386 single base substitution G A intron_variant MELA-AU 2 200143591 200143591 single base substitution G A intron_variant MELA-AU 2 200144108 200144108 single base substitution G A intron_variant MELA-AU 2 200144208 200144208 single base substitution G A intron_variant MELA-AU 2 200144489 200144489 single base substitution C T intron_variant MELA-AU 2 200145022 200145022 single base substitution G A intron_variant MELA-AU 2 200145269 200145269 single base substitution G A intron_variant MELA-AU 2 200145347 200145347 single base substitution G A intron_variant MELA-AU 2 200145630 200145630 single base substitution C T intron_variant MELA-AU 2 200145689 200145689 single base substitution G C intron_variant MELA-AU 2 200145716 200145716 single base substitution G A intron_variant MELA-AU 2 200145798 200145798 single base substitution G A intron_variant MELA-AU 2 200145890 200145890 single base substitution G A intron_variant MELA-AU 2 200145892 200145892 single base substitution G A intron_variant MELA-AU 2 200146097 200146097 single base substitution G T intron_variant MELA-AU 2 200146192 200146192 single base substitution G A intron_variant MELA-AU 2 200146376 200146376 single base substitution C T intron_variant MELA-AU 2 200146739 200146739 single base substitution G A intron_variant MELA-AU 2 200146842 200146842 single base substitution G A intron_variant MELA-AU 2 200146873 200146873 single base substitution G A intron_variant MELA-AU 2 200147315 200147315 single base substitution G A intron_variant MELA-AU 2 200147495 200147495 single base substitution C T intron_variant MELA-AU 2 200147636 200147636 single base substitution C T intron_variant MELA-AU 2 200147778 200147778 single base substitution C T intron_variant MELA-AU 2 200147827 200147827 single base substitution G A intron_variant MELA-AU 2 200148304 200148304 deletion of <=200bp G - intron_variant MELA-AU 2 200148308 200148308 single base substitution C T intron_variant MELA-AU 2 200148911 200148911 single base substitution G T intron_variant MELA-AU 2 200149073 200149073 single base substitution G A intron_variant MELA-AU 2 200149199 200149205 deletion of <=200bp AATATTT - intron_variant MELA-AU 2 200149774 200149774 single base substitution G A intron_variant MELA-AU 2 200149856 200149856 single base substitution C T intron_variant MELA-AU 2 200149910 200149910 single base substitution G A intron_variant MELA-AU 2 200150164 200150164 single base substitution C T intron_variant MELA-AU 2 200150288 200150289 multiple base substitution (>=2bp and <=200bp) AA CT intron_variant MELA-AU 2 200150442 200150442 single base substitution G A intron_variant MELA-AU 2 200150592 200150592 single base substitution C T intron_variant MELA-AU 2 200150721 200150721 single base substitution A T intron_variant MELA-AU 2 200150908 200150908 single base substitution G A intron_variant MELA-AU 2 200150972 200150972 single base substitution G A intron_variant MELA-AU 2 200151514 200151514 single base substitution G A intron_variant MELA-AU 2 200151559 200151560 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200151750 200151750 single base substitution G A intron_variant MELA-AU 2 200151896 200151896 single base substitution G A intron_variant MELA-AU 2 200152237 200152237 single base substitution G A intron_variant MELA-AU 2 200152347 200152347 single base substitution G A intron_variant MELA-AU 2 200152447 200152447 single base substitution C T intron_variant MELA-AU 2 200152572 200152572 single base substitution G A intron_variant MELA-AU 2 200152758 200152758 single base substitution T G intron_variant MELA-AU 2 200152852 200152852 single base substitution G A intron_variant MELA-AU 2 200152872 200152872 single base substitution G A intron_variant MELA-AU 2 200153026 200153026 single base substitution G A intron_variant MELA-AU 2 200153037 200153037 single base substitution G A intron_variant MELA-AU 2 200153148 200153148 single base substitution G A intron_variant MELA-AU 2 200153739 200153739 single base substitution G A intron_variant MELA-AU 2 200153758 200153758 single base substitution C T intron_variant MELA-AU 2 200154075 200154075 single base substitution G A intron_variant MELA-AU 2 200154202 200154202 single base substitution C T intron_variant MELA-AU 2 200154232 200154232 single base substitution C T intron_variant MELA-AU 2 200155514 200155514 single base substitution T A intron_variant MELA-AU 2 200155874 200155874 single base substitution G A intron_variant MELA-AU 2 200156946 200156946 single base substitution G A intron_variant MELA-AU 2 200157095 200157095 single base substitution G A intron_variant MELA-AU 2 200157575 200157575 single base substitution G A intron_variant MELA-AU 2 200157791 200157791 single base substitution C T intron_variant MELA-AU 2 200158029 200158029 single base substitution T C intron_variant MELA-AU 2 200158111 200158111 single base substitution C T intron_variant MELA-AU 2 200158112 200158112 single base substitution G A intron_variant MELA-AU 2 200158701 200158701 single base substitution T C intron_variant MELA-AU 2 200159948 200159948 single base substitution G A intron_variant MELA-AU 2 200160099 200160099 single base substitution A G intron_variant MELA-AU 2 200160164 200160164 single base substitution G A intron_variant MELA-AU 2 200160418 200160418 single base substitution C T intron_variant MELA-AU 2 200160764 200160764 single base substitution G A intron_variant MELA-AU 2 200160833 200160833 single base substitution T C intron_variant MELA-AU 2 200161026 200161026 single base substitution G A intron_variant MELA-AU 2 200161183 200161183 single base substitution G A intron_variant MELA-AU 2 200161212 200161212 single base substitution G A intron_variant MELA-AU 2 200162101 200162101 single base substitution G A intron_variant MELA-AU 2 200162424 200162424 single base substitution G A intron_variant MELA-AU 2 200162657 200162657 single base substitution A T intron_variant MELA-AU 2 200162784 200162784 single base substitution A T intron_variant MELA-AU 2 200162894 200162894 single base substitution C T intron_variant MELA-AU 2 200163072 200163072 single base substitution C T intron_variant MELA-AU 2 200163213 200163213 single base substitution G A intron_variant MELA-AU 2 200163492 200163492 single base substitution A C intron_variant MELA-AU 2 200163523 200163523 single base substitution C T intron_variant MELA-AU 2 200163909 200163909 single base substitution G A intron_variant MELA-AU 2 200163943 200163943 single base substitution C T intron_variant MELA-AU 2 200163954 200163954 single base substitution C T intron_variant MELA-AU 2 200164217 200164217 single base substitution G A intron_variant MELA-AU 2 200164287 200164287 single base substitution G A intron_variant MELA-AU 2 200164447 200164447 single base substitution A G intron_variant MELA-AU 2 200164956 200164956 single base substitution G A intron_variant MELA-AU 2 200165175 200165175 single base substitution A G intron_variant MELA-AU 2 200165559 200165559 single base substitution G A intron_variant MELA-AU 2 200165572 200165572 single base substitution G A intron_variant MELA-AU 2 200165837 200165837 single base substitution A G intron_variant MELA-AU 2 200165934 200165934 single base substitution G A intron_variant MELA-AU 2 200166182 200166183 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200166261 200166261 single base substitution C T intron_variant MELA-AU 2 200166577 200166577 single base substitution G A intron_variant MELA-AU 2 200166986 200166986 single base substitution T A intron_variant MELA-AU 2 200167388 200167388 single base substitution G A intron_variant MELA-AU 2 200167546 200167546 single base substitution G A intron_variant MELA-AU 2 200168122 200168122 single base substitution G A intron_variant MELA-AU 2 200168492 200168492 single base substitution C T intron_variant MELA-AU 2 200168583 200168583 single base substitution G A downstream_gene_variant MELA-AU 2 200168583 200168583 single base substitution G A intron_variant MELA-AU 2 200168584 200168584 single base substitution G A downstream_gene_variant MELA-AU 2 200168584 200168584 single base substitution G A intron_variant MELA-AU 2 200168609 200168609 single base substitution G A downstream_gene_variant MELA-AU 2 200168609 200168609 single base substitution G A intron_variant MELA-AU 2 200168795 200168795 single base substitution G A downstream_gene_variant MELA-AU 2 200168795 200168795 single base substitution G A intron_variant MELA-AU 2 200168918 200168918 single base substitution G A downstream_gene_variant MELA-AU 2 200168918 200168918 single base substitution G A intron_variant MELA-AU 2 200169170 200169170 single base substitution A G downstream_gene_variant MELA-AU 2 200169170 200169170 single base substitution A G intron_variant MELA-AU 2 200169249 200169249 single base substitution G A downstream_gene_variant MELA-AU 2 200169249 200169249 single base substitution G A intron_variant MELA-AU 2 200169422 200169422 single base substitution G A downstream_gene_variant MELA-AU 2 200169422 200169422 single base substitution G A intron_variant MELA-AU 2 200170192 200170192 single base substitution G A downstream_gene_variant MELA-AU 2 200170192 200170192 single base substitution G A intron_variant MELA-AU 2 200170378 200170378 single base substitution G A downstream_gene_variant MELA-AU 2 200170378 200170378 single base substitution G A intron_variant MELA-AU 2 200170540 200170540 single base substitution G A downstream_gene_variant MELA-AU 2 200170540 200170540 single base substitution G A intron_variant MELA-AU 2 200170750 200170750 single base substitution G A downstream_gene_variant MELA-AU 2 200170750 200170750 single base substitution G A intron_variant MELA-AU 2 200171226 200171226 single base substitution A G downstream_gene_variant MELA-AU 2 200171226 200171226 single base substitution A G intron_variant MELA-AU 2 200171342 200171342 single base substitution T C downstream_gene_variant MELA-AU 2 200171342 200171342 single base substitution T C intron_variant MELA-AU 2 200171633 200171633 single base substitution G A downstream_gene_variant MELA-AU 2 200171633 200171633 single base substitution G A intron_variant MELA-AU 2 200171677 200171677 single base substitution C T downstream_gene_variant MELA-AU 2 200171677 200171677 single base substitution C T intron_variant MELA-AU 2 200171699 200171699 single base substitution C T downstream_gene_variant MELA-AU 2 200171699 200171699 single base substitution C T intron_variant MELA-AU 2 200172033 200172033 single base substitution C T downstream_gene_variant MELA-AU 2 200172033 200172033 single base substitution C T intron_variant MELA-AU 2 200172135 200172135 single base substitution G A downstream_gene_variant MELA-AU 2 200172135 200172135 single base substitution G A intron_variant MELA-AU 2 200172916 200172917 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 200172916 200172917 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 200172922 200172922 single base substitution G A downstream_gene_variant MELA-AU 2 200172922 200172922 single base substitution G A intron_variant MELA-AU 2 200173166 200173166 single base substitution A G downstream_gene_variant MELA-AU 2 200173166 200173166 single base substitution A G intron_variant MELA-AU 2 200173624 200173624 single base substitution G T exon_variant MELA-AU 2 200173624 200173624 single base substitution G T synonymous_variant T415T 1245C>A MELA-AU 2 200173624 200173624 single base substitution G T synonymous_variant T474T 1422C>A MELA-AU 2 200173624 200173624 single base substitution G T synonymous_variant T533T 1599C>A MELA-AU 2 200173635 200173635 single base substitution C T exon_variant MELA-AU 2 200173635 200173635 single base substitution C T missense_variant E412K 1234G>A MELA-AU 2 200173635 200173635 single base substitution C T missense_variant E471K 1411G>A MELA-AU 2 200173635 200173635 single base substitution C T missense_variant E530K 1588G>A MELA-AU 2 200173896 200173896 single base substitution C T intron_variant MELA-AU 2 200173939 200173939 single base substitution C T intron_variant MELA-AU 2 200173973 200173973 single base substitution C T intron_variant MELA-AU 2 200174094 200174094 single base substitution G A intron_variant MELA-AU 2 200174137 200174137 single base substitution G A intron_variant MELA-AU 2 200174535 200174535 single base substitution C T intron_variant MELA-AU 2 200174711 200174711 single base substitution A G intron_variant MELA-AU 2 200174740 200174740 single base substitution C T intron_variant MELA-AU 2 200174815 200174815 single base substitution C T intron_variant MELA-AU 2 200175163 200175163 single base substitution G A intron_variant MELA-AU 2 200175321 200175321 single base substitution C T intron_variant MELA-AU 2 200175428 200175428 single base substitution G A intron_variant MELA-AU 2 200175460 200175460 single base substitution G A intron_variant MELA-AU 2 200175588 200175588 single base substitution A C intron_variant MELA-AU 2 200175841 200175841 single base substitution G A intron_variant MELA-AU 2 200176022 200176022 single base substitution A T intron_variant MELA-AU 2 200176371 200176371 single base substitution A G intron_variant MELA-AU 2 200176706 200176706 single base substitution G A intron_variant MELA-AU 2 200176716 200176716 single base substitution C T intron_variant MELA-AU 2 200176866 200176866 single base substitution G T intron_variant MELA-AU 2 200176926 200176926 single base substitution T A intron_variant MELA-AU 2 200176949 200176949 single base substitution C T intron_variant MELA-AU 2 200177055 200177055 single base substitution C T intron_variant MELA-AU 2 200177086 200177086 single base substitution G A intron_variant MELA-AU 2 200177160 200177160 single base substitution G A intron_variant MELA-AU 2 200177464 200177465 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200177498 200177498 single base substitution G A intron_variant MELA-AU 2 200177532 200177532 single base substitution A G intron_variant MELA-AU 2 200177536 200177536 single base substitution C T intron_variant MELA-AU 2 200177659 200177659 single base substitution G A intron_variant MELA-AU 2 200177698 200177698 single base substitution G A intron_variant MELA-AU 2 200177712 200177712 single base substitution A C intron_variant MELA-AU 2 200177768 200177768 single base substitution G A intron_variant MELA-AU 2 200177779 200177779 single base substitution G A intron_variant MELA-AU 2 200178017 200178017 single base substitution C T intron_variant MELA-AU 2 200178021 200178021 single base substitution G A intron_variant MELA-AU 2 200178206 200178206 single base substitution C T intron_variant MELA-AU 2 200178739 200178739 single base substitution C T intron_variant MELA-AU 2 200179073 200179073 single base substitution T A intron_variant MELA-AU 2 200179168 200179168 single base substitution G A intron_variant MELA-AU 2 200179366 200179366 single base substitution C T intron_variant MELA-AU 2 200179438 200179438 single base substitution G A intron_variant MELA-AU 2 200179448 200179448 single base substitution G A intron_variant MELA-AU 2 200179477 200179477 single base substitution G A intron_variant MELA-AU 2 200180215 200180215 single base substitution G A intron_variant MELA-AU 2 200180431 200180431 single base substitution G A intron_variant MELA-AU 2 200180861 200180861 single base substitution A T intron_variant MELA-AU 2 200180879 200180880 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200180885 200180885 single base substitution C T intron_variant MELA-AU 2 200180974 200180974 single base substitution G A intron_variant MELA-AU 2 200181358 200181358 single base substitution T C intron_variant MELA-AU 2 200181406 200181406 single base substitution G A intron_variant MELA-AU 2 200181445 200181445 single base substitution G A intron_variant MELA-AU 2 200181795 200181795 single base substitution G A intron_variant MELA-AU 2 200182154 200182154 single base substitution G A intron_variant MELA-AU 2 200182458 200182458 single base substitution G A intron_variant MELA-AU 2 200182520 200182520 single base substitution G A intron_variant MELA-AU 2 200182777 200182777 single base substitution G A intron_variant MELA-AU 2 200182785 200182785 single base substitution C T intron_variant MELA-AU 2 200183129 200183129 single base substitution G A intron_variant MELA-AU 2 200183169 200183169 single base substitution A G intron_variant MELA-AU 2 200183325 200183325 single base substitution G A intron_variant MELA-AU 2 200183332 200183332 single base substitution G A intron_variant MELA-AU 2 200183382 200183382 single base substitution G A intron_variant MELA-AU 2 200183421 200183421 single base substitution C T intron_variant MELA-AU 2 200183544 200183544 single base substitution C T intron_variant MELA-AU 2 200183607 200183607 single base substitution G C intron_variant MELA-AU 2 200183841 200183841 single base substitution C T intron_variant MELA-AU 2 200183853 200183853 single base substitution G A intron_variant MELA-AU 2 200183856 200183856 single base substitution G A intron_variant MELA-AU 2 200184318 200184318 single base substitution C T intron_variant MELA-AU 2 200184405 200184405 single base substitution G A intron_variant MELA-AU 2 200184406 200184406 single base substitution G A intron_variant MELA-AU 2 200184490 200184490 single base substitution G A intron_variant MELA-AU 2 200184554 200184554 single base substitution G A intron_variant MELA-AU 2 200184599 200184599 single base substitution G A intron_variant MELA-AU 2 200184666 200184666 single base substitution C T intron_variant MELA-AU 2 200184670 200184670 single base substitution G A intron_variant MELA-AU 2 200184867 200184867 single base substitution G A intron_variant MELA-AU 2 200185103 200185103 single base substitution G A intron_variant MELA-AU 2 200185113 200185113 single base substitution G A intron_variant MELA-AU 2 200185259 200185259 single base substitution G A intron_variant MELA-AU 2 200185419 200185419 single base substitution C T intron_variant MELA-AU 2 200185676 200185676 single base substitution G A intron_variant MELA-AU 2 200185987 200185987 single base substitution C T intron_variant MELA-AU 2 200186696 200186696 single base substitution G A intron_variant MELA-AU 2 200186860 200186860 single base substitution G A intron_variant MELA-AU 2 200187554 200187554 single base substitution C A intron_variant MELA-AU 2 200187653 200187653 single base substitution G A intron_variant MELA-AU 2 200187695 200187695 single base substitution A G intron_variant MELA-AU 2 200187889 200187889 single base substitution C T intron_variant MELA-AU 2 200188078 200188079 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200188128 200188128 single base substitution G A intron_variant MELA-AU 2 200188417 200188417 single base substitution G A intron_variant MELA-AU 2 200188498 200188498 single base substitution C T intron_variant MELA-AU 2 200188758 200188758 single base substitution G A intron_variant MELA-AU 2 200188826 200188826 single base substitution G A intron_variant MELA-AU 2 200189034 200189034 single base substitution G A intron_variant MELA-AU 2 200189096 200189096 single base substitution A T intron_variant MELA-AU 2 200189123 200189124 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 2 200189230 200189230 single base substitution G A intron_variant MELA-AU 2 200189670 200189670 single base substitution C T intron_variant MELA-AU 2 200190027 200190027 single base substitution A T intron_variant MELA-AU 2 200190035 200190035 single base substitution G A intron_variant MELA-AU 2 200190218 200190218 single base substitution G A intron_variant MELA-AU 2 200190436 200190436 single base substitution G A intron_variant MELA-AU 2 200190477 200190477 single base substitution C T intron_variant MELA-AU 2 200190592 200190592 single base substitution G A intron_variant MELA-AU 2 200190745 200190745 single base substitution G A intron_variant MELA-AU 2 200190901 200190901 single base substitution G A intron_variant MELA-AU 2 200191283 200191283 single base substitution A G intron_variant MELA-AU 2 200191585 200191585 single base substitution A G intron_variant MELA-AU 2 200191612 200191612 single base substitution A G intron_variant MELA-AU 2 200191655 200191655 single base substitution A T intron_variant MELA-AU 2 200191687 200191687 single base substitution G A intron_variant MELA-AU 2 200191722 200191722 single base substitution A G intron_variant MELA-AU 2 200191788 200191788 single base substitution G A intron_variant MELA-AU 2 200191929 200191929 single base substitution G A intron_variant MELA-AU 2 200192104 200192104 single base substitution C A intron_variant MELA-AU 2 200192151 200192151 single base substitution G A intron_variant MELA-AU 2 200192241 200192241 single base substitution A G intron_variant MELA-AU 2 200192257 200192257 single base substitution G A intron_variant MELA-AU 2 200192300 200192300 single base substitution G A intron_variant MELA-AU 2 200192339 200192339 single base substitution G A intron_variant MELA-AU 2 200192463 200192463 single base substitution G A intron_variant MELA-AU 2 200192632 200192632 single base substitution T C intron_variant MELA-AU 2 200192912 200192912 single base substitution G T intron_variant MELA-AU 2 200193061 200193061 single base substitution C T intron_variant MELA-AU 2 200193064 200193064 single base substitution G A intron_variant MELA-AU 2 200193516 200193516 single base substitution G A exon_variant MELA-AU 2 200193516 200193516 single base substitution G A missense_variant R313C 937C>T MELA-AU 2 200193516 200193516 single base substitution G A missense_variant R372C 1114C>T MELA-AU 2 200193516 200193516 single base substitution G A missense_variant R431C 1291C>T MELA-AU 2 200193645 200193645 single base substitution G A exon_variant MELA-AU 2 200193645 200193645 single base substitution G A intron_variant MELA-AU 2 200193649 200193649 deletion of <=200bp A - exon_variant MELA-AU 2 200193649 200193649 deletion of <=200bp A - intron_variant MELA-AU 2 200193736 200193736 single base substitution C T exon_variant MELA-AU 2 200193736 200193736 single base substitution C T intron_variant MELA-AU 2 200193766 200193766 single base substitution C T intron_variant MELA-AU 2 200193766 200193766 single base substitution C T upstream_gene_variant MELA-AU 2 200193893 200193893 single base substitution C T intron_variant MELA-AU 2 200193893 200193893 single base substitution C T upstream_gene_variant MELA-AU 2 200194043 200194043 single base substitution T A intron_variant MELA-AU 2 200194043 200194043 single base substitution T A upstream_gene_variant MELA-AU 2 200194103 200194103 single base substitution G A intron_variant MELA-AU 2 200194103 200194103 single base substitution G A upstream_gene_variant MELA-AU 2 200194491 200194491 single base substitution G A intron_variant MELA-AU 2 200194491 200194491 single base substitution G A upstream_gene_variant MELA-AU 2 200194557 200194557 single base substitution G A intron_variant MELA-AU 2 200194557 200194557 single base substitution G A upstream_gene_variant MELA-AU 2 200194703 200194703 single base substitution G A intron_variant MELA-AU 2 200194703 200194703 single base substitution G A upstream_gene_variant MELA-AU 2 200194728 200194728 single base substitution T A intron_variant MELA-AU 2 200194728 200194728 single base substitution T A upstream_gene_variant MELA-AU 2 200195133 200195133 single base substitution G A intron_variant MELA-AU 2 200195133 200195133 single base substitution G A upstream_gene_variant MELA-AU 2 200195223 200195223 single base substitution G A intron_variant MELA-AU 2 200195223 200195223 single base substitution G A upstream_gene_variant MELA-AU 2 200195363 200195363 single base substitution G A intron_variant MELA-AU 2 200195363 200195363 single base substitution G A upstream_gene_variant MELA-AU 2 200195819 200195819 single base substitution G A intron_variant MELA-AU 2 200195819 200195819 single base substitution G A upstream_gene_variant MELA-AU 2 200195978 200195978 single base substitution C T intron_variant MELA-AU 2 200195978 200195978 single base substitution C T upstream_gene_variant MELA-AU 2 200196031 200196031 single base substitution G A intron_variant MELA-AU 2 200196031 200196031 single base substitution G A upstream_gene_variant MELA-AU 2 200196084 200196084 single base substitution G A intron_variant MELA-AU 2 200196084 200196084 single base substitution G A upstream_gene_variant MELA-AU 2 200196156 200196156 single base substitution G A intron_variant MELA-AU 2 200196156 200196156 single base substitution G A upstream_gene_variant MELA-AU 2 200196204 200196204 single base substitution T A intron_variant MELA-AU 2 200196204 200196204 single base substitution T A upstream_gene_variant MELA-AU 2 200196327 200196327 single base substitution G A intron_variant MELA-AU 2 200196327 200196327 single base substitution G A upstream_gene_variant MELA-AU 2 200196579 200196579 single base substitution G A intron_variant MELA-AU 2 200196579 200196579 single base substitution G A upstream_gene_variant MELA-AU 2 200197093 200197093 single base substitution G A intron_variant MELA-AU 2 200197093 200197093 single base substitution G A upstream_gene_variant MELA-AU 2 200197222 200197222 single base substitution G A intron_variant MELA-AU 2 200197222 200197222 single base substitution G A upstream_gene_variant MELA-AU 2 200197349 200197349 single base substitution C T intron_variant MELA-AU 2 200197349 200197349 single base substitution C T upstream_gene_variant MELA-AU 2 200197445 200197445 single base substitution C T intron_variant MELA-AU 2 200197445 200197445 single base substitution C T upstream_gene_variant MELA-AU 2 200197552 200197552 single base substitution T G intron_variant MELA-AU 2 200197552 200197552 single base substitution T G upstream_gene_variant MELA-AU 2 200197627 200197627 single base substitution G A intron_variant MELA-AU 2 200197627 200197627 single base substitution G A upstream_gene_variant MELA-AU 2 200197715 200197715 single base substitution C T intron_variant MELA-AU 2 200197715 200197715 single base substitution C T upstream_gene_variant MELA-AU 2 200198022 200198022 single base substitution G A intron_variant MELA-AU 2 200198022 200198022 single base substitution G A upstream_gene_variant MELA-AU 2 200198124 200198124 single base substitution G A intron_variant MELA-AU 2 200198124 200198124 single base substitution G A upstream_gene_variant MELA-AU 2 200198161 200198161 single base substitution G A intron_variant MELA-AU 2 200198161 200198161 single base substitution G A upstream_gene_variant MELA-AU 2 200198534 200198534 single base substitution G A intron_variant MELA-AU 2 200198534 200198534 single base substitution G A upstream_gene_variant MELA-AU 2 200198699 200198699 single base substitution T A intron_variant MELA-AU 2 200198699 200198699 single base substitution T A upstream_gene_variant MELA-AU 2 200199140 200199140 single base substitution A C intron_variant MELA-AU 2 200199557 200199557 single base substitution T C intron_variant MELA-AU 2 200199703 200199703 single base substitution C T intron_variant MELA-AU 2 200199831 200199831 single base substitution G A intron_variant MELA-AU 2 200200014 200200014 single base substitution G A intron_variant MELA-AU 2 200200216 200200220 deletion of <=200bp ATCTT - intron_variant MELA-AU 2 200200267 200200267 single base substitution C T intron_variant MELA-AU 2 200200367 200200367 single base substitution G A intron_variant MELA-AU 2 200200425 200200425 single base substitution G A intron_variant MELA-AU 2 200200597 200200597 single base substitution G A intron_variant MELA-AU 2 200200977 200200977 single base substitution G A intron_variant MELA-AU 2 200201476 200201477 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200201669 200201669 single base substitution C T intron_variant MELA-AU 2 200201943 200201943 single base substitution G A intron_variant MELA-AU 2 200202081 200202081 single base substitution G A intron_variant MELA-AU 2 200202344 200202345 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200202600 200202600 single base substitution C T intron_variant MELA-AU 2 200202608 200202608 single base substitution G A intron_variant MELA-AU 2 200202925 200202925 deletion of <=200bp A - intron_variant MELA-AU 2 200203245 200203245 single base substitution T C intron_variant MELA-AU 2 200203407 200203407 single base substitution G A intron_variant MELA-AU 2 200203431 200203431 single base substitution G A intron_variant MELA-AU 2 200203493 200203493 single base substitution G A intron_variant MELA-AU 2 200203554 200203554 single base substitution C T intron_variant MELA-AU 2 200203610 200203610 single base substitution G A intron_variant MELA-AU 2 200204186 200204186 single base substitution G A intron_variant MELA-AU 2 200204216 200204216 single base substitution G A intron_variant MELA-AU 2 200204421 200204421 single base substitution G A intron_variant MELA-AU 2 200204526 200204526 single base substitution G T intron_variant MELA-AU 2 200205674 200205674 single base substitution C T intron_variant MELA-AU 2 200205708 200205708 single base substitution A T intron_variant MELA-AU 2 200205830 200205830 single base substitution C T intron_variant MELA-AU 2 200206382 200206382 single base substitution G A intron_variant MELA-AU 2 200206590 200206590 single base substitution C T downstream_gene_variant MELA-AU 2 200206590 200206590 single base substitution C T intron_variant MELA-AU 2 200206731 200206731 single base substitution G A downstream_gene_variant MELA-AU 2 200206731 200206731 single base substitution G A intron_variant MELA-AU 2 200206889 200206889 single base substitution G A downstream_gene_variant MELA-AU 2 200206889 200206889 single base substitution G A intron_variant MELA-AU 2 200206963 200206963 single base substitution C T downstream_gene_variant MELA-AU 2 200206963 200206963 single base substitution C T intron_variant MELA-AU 2 200207244 200207244 single base substitution C T downstream_gene_variant MELA-AU 2 200207244 200207244 single base substitution C T intron_variant MELA-AU 2 200207358 200207358 single base substitution T G downstream_gene_variant MELA-AU 2 200207358 200207358 single base substitution T G intron_variant MELA-AU 2 200207428 200207428 single base substitution A G downstream_gene_variant MELA-AU 2 200207428 200207428 single base substitution A G intron_variant MELA-AU 2 200207508 200207508 single base substitution G A downstream_gene_variant MELA-AU 2 200207508 200207508 single base substitution G A intron_variant MELA-AU 2 200207692 200207692 single base substitution C T downstream_gene_variant MELA-AU 2 200207692 200207692 single base substitution C T intron_variant MELA-AU 2 200207748 200207748 single base substitution G A downstream_gene_variant MELA-AU 2 200207748 200207748 single base substitution G A intron_variant MELA-AU 2 200208170 200208170 single base substitution G A downstream_gene_variant MELA-AU 2 200208170 200208170 single base substitution G A intron_variant MELA-AU 2 200208218 200208218 single base substitution C T downstream_gene_variant MELA-AU 2 200208218 200208218 single base substitution C T intron_variant MELA-AU 2 200208525 200208525 single base substitution G A downstream_gene_variant MELA-AU 2 200208525 200208525 single base substitution G A intron_variant MELA-AU 2 200208660 200208660 single base substitution C T downstream_gene_variant MELA-AU 2 200208660 200208660 single base substitution C T intron_variant MELA-AU 2 200209335 200209335 single base substitution A T downstream_gene_variant MELA-AU 2 200209335 200209335 single base substitution A T intron_variant MELA-AU 2 200209683 200209683 single base substitution G A downstream_gene_variant MELA-AU 2 200209683 200209683 single base substitution G A intron_variant MELA-AU 2 200209896 200209896 single base substitution C T downstream_gene_variant MELA-AU 2 200209896 200209896 single base substitution C T intron_variant MELA-AU 2 200210249 200210249 single base substitution A C downstream_gene_variant MELA-AU 2 200210249 200210249 single base substitution A C intron_variant MELA-AU 2 200210636 200210636 single base substitution C T downstream_gene_variant MELA-AU 2 200210636 200210636 single base substitution C T intron_variant MELA-AU 2 200210801 200210801 single base substitution G A downstream_gene_variant MELA-AU 2 200210801 200210801 single base substitution G A intron_variant MELA-AU 2 200211093 200211093 single base substitution G A downstream_gene_variant MELA-AU 2 200211093 200211093 single base substitution G A intron_variant MELA-AU 2 200211128 200211128 single base substitution C T downstream_gene_variant MELA-AU 2 200211128 200211128 single base substitution C T intron_variant MELA-AU 2 200211687 200211687 single base substitution G A exon_variant MELA-AU 2 200211687 200211687 single base substitution G A intron_variant MELA-AU 2 200211965 200211965 single base substitution C T exon_variant MELA-AU 2 200211965 200211965 single base substitution C T intron_variant MELA-AU 2 200212610 200212610 single base substitution T A exon_variant MELA-AU 2 200212610 200212610 single base substitution T A intron_variant MELA-AU 2 200212940 200212940 single base substitution G A exon_variant MELA-AU 2 200212940 200212940 single base substitution G A intron_variant MELA-AU 2 200213024 200213024 single base substitution G A exon_variant MELA-AU 2 200213024 200213024 single base substitution G A intron_variant MELA-AU 2 200213333 200213333 single base substitution A T exon_variant MELA-AU 2 200213333 200213333 single base substitution A T intron_variant MELA-AU 2 200213592 200213592 single base substitution G A exon_variant MELA-AU 2 200213592 200213592 single base substitution G A synonymous_variant I217I 651C>T MELA-AU 2 200213592 200213592 single base substitution G A synonymous_variant I276I 828C>T MELA-AU 2 200213592 200213592 single base substitution G A synonymous_variant I335I 1005C>T MELA-AU 2 200213915 200213915 single base substitution G A intron_variant MELA-AU 2 200213938 200213938 single base substitution G T intron_variant MELA-AU 2 200214530 200214530 single base substitution C T intron_variant MELA-AU 2 200215493 200215493 single base substitution C T intron_variant MELA-AU 2 200215504 200215504 single base substitution G A intron_variant MELA-AU 2 200215667 200215667 single base substitution A G intron_variant MELA-AU 2 200215780 200215780 single base substitution G A intron_variant MELA-AU 2 200216369 200216369 single base substitution G A intron_variant MELA-AU 2 200216569 200216569 single base substitution G A intron_variant MELA-AU 2 200216657 200216657 single base substitution G A intron_variant MELA-AU 2 200216667 200216667 single base substitution C T intron_variant MELA-AU 2 200216728 200216728 single base substitution G A intron_variant MELA-AU 2 200217268 200217268 single base substitution G A intron_variant MELA-AU 2 200217431 200217431 single base substitution G A intron_variant MELA-AU 2 200217553 200217553 single base substitution A G intron_variant MELA-AU 2 200217639 200217639 single base substitution C T intron_variant MELA-AU 2 200217757 200217757 single base substitution A T intron_variant MELA-AU 2 200217863 200217864 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 2 200218147 200218147 single base substitution G A intron_variant MELA-AU 2 200218148 200218148 single base substitution G A intron_variant MELA-AU 2 200218509 200218509 single base substitution C G intron_variant MELA-AU 2 200218600 200218600 single base substitution G A intron_variant MELA-AU 2 200218873 200218873 single base substitution G A intron_variant MELA-AU 2 200218969 200218969 single base substitution C T intron_variant MELA-AU 2 200219218 200219218 single base substitution G A intron_variant MELA-AU 2 200219222 200219222 single base substitution G A intron_variant MELA-AU 2 200219453 200219453 single base substitution C T intron_variant MELA-AU 2 200220065 200220065 single base substitution G A intron_variant MELA-AU 2 200220302 200220302 single base substitution G A intron_variant MELA-AU 2 200220851 200220851 single base substitution G A intron_variant MELA-AU 2 200221016 200221016 single base substitution A G intron_variant MELA-AU 2 200221130 200221130 single base substitution C T intron_variant MELA-AU 2 200221175 200221175 single base substitution T C intron_variant MELA-AU 2 200221472 200221472 single base substitution G A intron_variant MELA-AU 2 200222456 200222456 single base substitution C T intron_variant MELA-AU 2 200222955 200222955 single base substitution G A intron_variant MELA-AU 2 200223549 200223549 single base substitution C T intron_variant MELA-AU 2 200223674 200223674 single base substitution C T intron_variant MELA-AU 2 200224417 200224417 single base substitution G A intron_variant MELA-AU 2 200224615 200224615 single base substitution G A intron_variant MELA-AU 2 200224807 200224807 single base substitution G A intron_variant MELA-AU 2 200224944 200224944 single base substitution A G intron_variant MELA-AU 2 200225011 200225011 single base substitution C T intron_variant MELA-AU 2 200225066 200225066 single base substitution G A intron_variant MELA-AU 2 200225101 200225101 single base substitution C T intron_variant MELA-AU 2 200225377 200225377 single base substitution T G intron_variant MELA-AU 2 200225541 200225541 single base substitution C T intron_variant MELA-AU 2 200226153 200226153 single base substitution C T intron_variant MELA-AU 2 200226193 200226193 single base substitution G A intron_variant MELA-AU 2 200226568 200226568 single base substitution C T intron_variant MELA-AU 2 200226616 200226616 single base substitution G A intron_variant MELA-AU 2 200226847 200226847 single base substitution C T intron_variant MELA-AU 2 200226980 200226980 single base substitution C T intron_variant MELA-AU 2 200227547 200227547 single base substitution G A intron_variant MELA-AU 2 200227580 200227580 single base substitution G A intron_variant MELA-AU 2 200227609 200227609 single base substitution G A intron_variant MELA-AU 2 200227883 200227883 single base substitution C T intron_variant MELA-AU 2 200228256 200228256 single base substitution C T intron_variant MELA-AU 2 200228530 200228530 single base substitution G A downstream_gene_variant MELA-AU 2 200228530 200228530 single base substitution G A intron_variant MELA-AU 2 200229299 200229299 single base substitution G T downstream_gene_variant MELA-AU 2 200229299 200229299 single base substitution G T intron_variant MELA-AU 2 200229300 200229300 single base substitution G A downstream_gene_variant MELA-AU 2 200229300 200229300 single base substitution G A intron_variant MELA-AU 2 200229431 200229431 single base substitution C T downstream_gene_variant MELA-AU 2 200229431 200229431 single base substitution C T intron_variant MELA-AU 2 200229436 200229436 single base substitution G A downstream_gene_variant MELA-AU 2 200229436 200229436 single base substitution G A intron_variant MELA-AU 2 200229545 200229545 single base substitution A T downstream_gene_variant MELA-AU 2 200229545 200229545 single base substitution A T intron_variant MELA-AU 2 200230439 200230439 single base substitution G A downstream_gene_variant MELA-AU 2 200230439 200230439 single base substitution G A intron_variant MELA-AU 2 200231024 200231024 single base substitution G A downstream_gene_variant MELA-AU 2 200231024 200231024 single base substitution G A intron_variant MELA-AU 2 200231057 200231057 single base substitution C T downstream_gene_variant MELA-AU 2 200231057 200231057 single base substitution C T intron_variant MELA-AU 2 200231393 200231393 single base substitution G A downstream_gene_variant MELA-AU 2 200231393 200231393 single base substitution G A intron_variant MELA-AU 2 200231621 200231621 single base substitution G A downstream_gene_variant MELA-AU 2 200231621 200231621 single base substitution G A intron_variant MELA-AU 2 200231650 200231650 single base substitution C A downstream_gene_variant MELA-AU 2 200231650 200231650 single base substitution C A intron_variant MELA-AU 2 200231706 200231706 single base substitution C T downstream_gene_variant MELA-AU 2 200231706 200231706 single base substitution C T intron_variant MELA-AU 2 200231878 200231878 single base substitution A T downstream_gene_variant MELA-AU 2 200231878 200231878 single base substitution A T intron_variant MELA-AU 2 200231946 200231946 single base substitution G A downstream_gene_variant MELA-AU 2 200231946 200231946 single base substitution G A intron_variant MELA-AU 2 200232054 200232054 single base substitution G A downstream_gene_variant MELA-AU 2 200232054 200232054 single base substitution G A intron_variant MELA-AU 2 200232399 200232399 single base substitution T G downstream_gene_variant MELA-AU 2 200232399 200232399 single base substitution T G intron_variant MELA-AU 2 200232619 200232619 single base substitution G A downstream_gene_variant MELA-AU 2 200232619 200232619 single base substitution G A intron_variant MELA-AU 2 200232802 200232802 single base substitution C T downstream_gene_variant MELA-AU 2 200232802 200232802 single base substitution C T intron_variant MELA-AU 2 200233073 200233073 single base substitution G A downstream_gene_variant MELA-AU 2 200233073 200233073 single base substitution G A intron_variant MELA-AU 2 200233195 200233195 single base substitution G A downstream_gene_variant MELA-AU 2 200233195 200233195 single base substitution G A intron_variant MELA-AU 2 200233287 200233287 single base substitution G A downstream_gene_variant MELA-AU 2 200233287 200233287 single base substitution G A intron_variant MELA-AU 2 200233489 200233489 single base substitution G A exon_variant MELA-AU 2 200233489 200233489 single base substitution G A intron_variant MELA-AU 2 200233870 200233870 single base substitution G A intron_variant MELA-AU 2 200233870 200233870 single base substitution G A upstream_gene_variant MELA-AU 2 200234817 200234817 single base substitution G A intron_variant MELA-AU 2 200234817 200234817 single base substitution G A upstream_gene_variant MELA-AU 2 200234943 200234943 single base substitution C T intron_variant MELA-AU 2 200234943 200234943 single base substitution C T upstream_gene_variant MELA-AU 2 200235358 200235358 single base substitution A C intron_variant MELA-AU 2 200235358 200235358 single base substitution A C upstream_gene_variant MELA-AU 2 200235486 200235486 single base substitution G A intron_variant MELA-AU 2 200235486 200235486 single base substitution G A upstream_gene_variant MELA-AU 2 200235549 200235549 single base substitution G A intron_variant MELA-AU 2 200235549 200235549 single base substitution G A upstream_gene_variant MELA-AU 2 200236182 200236182 single base substitution T A intron_variant MELA-AU 2 200236182 200236182 single base substitution T A upstream_gene_variant MELA-AU 2 200236222 200236222 single base substitution G A intron_variant MELA-AU 2 200236222 200236222 single base substitution G A upstream_gene_variant MELA-AU 2 200236430 200236430 single base substitution G A intron_variant MELA-AU 2 200236430 200236430 single base substitution G A upstream_gene_variant MELA-AU 2 200237206 200237206 single base substitution C T intron_variant MELA-AU 2 200237206 200237206 single base substitution C T upstream_gene_variant MELA-AU 2 200237256 200237256 single base substitution C T intron_variant MELA-AU 2 200237256 200237256 single base substitution C T upstream_gene_variant MELA-AU 2 200237375 200237375 single base substitution G A intron_variant MELA-AU 2 200237375 200237375 single base substitution G A upstream_gene_variant MELA-AU 2 200237602 200237602 single base substitution G A intron_variant MELA-AU 2 200237602 200237602 single base substitution G A upstream_gene_variant MELA-AU 2 200237808 200237808 single base substitution C T intron_variant MELA-AU 2 200237808 200237808 single base substitution C T upstream_gene_variant MELA-AU 2 200237884 200237884 single base substitution G A intron_variant MELA-AU 2 200237884 200237884 single base substitution G A upstream_gene_variant MELA-AU 2 200237899 200237899 single base substitution C T intron_variant MELA-AU 2 200237899 200237899 single base substitution C T upstream_gene_variant MELA-AU 2 200237931 200237931 single base substitution G A intron_variant MELA-AU 2 200237931 200237931 single base substitution G A upstream_gene_variant MELA-AU 2 200238042 200238042 single base substitution A T intron_variant MELA-AU 2 200238042 200238042 single base substitution A T upstream_gene_variant MELA-AU 2 200238453 200238453 single base substitution A T intron_variant MELA-AU 2 200238453 200238453 single base substitution A T upstream_gene_variant MELA-AU 2 200238457 200238457 single base substitution C T intron_variant MELA-AU 2 200238457 200238457 single base substitution C T upstream_gene_variant MELA-AU 2 200238547 200238547 single base substitution G A intron_variant MELA-AU 2 200238547 200238547 single base substitution G A upstream_gene_variant MELA-AU 2 200238655 200238655 single base substitution C T intron_variant MELA-AU 2 200238655 200238655 single base substitution C T upstream_gene_variant MELA-AU 2 200239142 200239142 single base substitution A T intron_variant MELA-AU 2 200239147 200239147 single base substitution T C intron_variant MELA-AU 2 200239229 200239229 single base substitution G A intron_variant MELA-AU 2 200239473 200239473 single base substitution G A intron_variant MELA-AU 2 200239496 200239496 single base substitution G A intron_variant MELA-AU 2 200239868 200239868 single base substitution T C intron_variant MELA-AU 2 200239940 200239940 single base substitution G A intron_variant MELA-AU 2 200240080 200240080 single base substitution A G intron_variant MELA-AU 2 200240248 200240248 single base substitution C T intron_variant MELA-AU 2 200241150 200241150 single base substitution C T intron_variant MELA-AU 2 200241282 200241282 single base substitution C T intron_variant MELA-AU 2 200241430 200241430 single base substitution G A intron_variant MELA-AU 2 200241466 200241466 single base substitution A G intron_variant MELA-AU 2 200241697 200241697 single base substitution C T intron_variant MELA-AU 2 200241907 200241907 single base substitution G A intron_variant MELA-AU 2 200242229 200242229 single base substitution T C intron_variant MELA-AU 2 200242430 200242430 single base substitution G A intron_variant MELA-AU 2 200242444 200242444 single base substitution G A intron_variant MELA-AU 2 200242679 200242679 single base substitution T C intron_variant MELA-AU 2 200242814 200242814 single base substitution G A intron_variant MELA-AU 2 200242875 200242875 single base substitution G A intron_variant MELA-AU 2 200244153 200244153 single base substitution G A intron_variant MELA-AU 2 200244208 200244208 single base substitution C T intron_variant MELA-AU 2 200244299 200244299 single base substitution G C intron_variant MELA-AU 2 200244877 200244877 single base substitution G A intron_variant MELA-AU 2 200245009 200245009 single base substitution T G intron_variant MELA-AU 2 200245019 200245019 single base substitution G A intron_variant MELA-AU 2 200245306 200245306 single base substitution G A intron_variant MELA-AU 2 200245559 200245559 single base substitution G A intron_variant MELA-AU 2 200245739 200245739 single base substitution G A intron_variant MELA-AU 2 200245764 200245764 single base substitution G A intron_variant MELA-AU 2 200245782 200245782 single base substitution C T intron_variant MELA-AU 2 200245886 200245886 single base substitution C T intron_variant MELA-AU 2 200245958 200245958 single base substitution G A intron_variant MELA-AU 2 200246028 200246028 single base substitution C T intron_variant MELA-AU 2 200246174 200246174 single base substitution C T intron_variant MELA-AU 2 200246371 200246371 single base substitution G A intron_variant MELA-AU 2 200246724 200246724 single base substitution G A intron_variant MELA-AU 2 200247265 200247265 single base substitution C T intron_variant MELA-AU 2 200247302 200247302 single base substitution G A intron_variant MELA-AU 2 200247556 200247556 single base substitution G A intron_variant MELA-AU 2 200247676 200247676 single base substitution C T intron_variant MELA-AU 2 200247797 200247797 single base substitution G A intron_variant MELA-AU 2 200247825 200247825 single base substitution G A intron_variant MELA-AU 2 200248024 200248024 single base substitution C T intron_variant MELA-AU 2 200248578 200248578 single base substitution G A intron_variant MELA-AU 2 200249462 200249462 single base substitution C T intron_variant MELA-AU 2 200249704 200249704 single base substitution G A intron_variant MELA-AU 2 200250076 200250076 single base substitution C T intron_variant MELA-AU 2 200250307 200250307 single base substitution C T intron_variant MELA-AU 2 200250653 200250653 single base substitution G A intron_variant MELA-AU 2 200250850 200250850 single base substitution C T intron_variant MELA-AU 2 200251361 200251361 single base substitution G A intron_variant MELA-AU 2 200251395 200251395 single base substitution G A intron_variant MELA-AU 2 200251491 200251491 single base substitution C T intron_variant MELA-AU 2 200251996 200251996 single base substitution C T intron_variant MELA-AU 2 200252102 200252102 single base substitution G A intron_variant MELA-AU 2 200252157 200252157 single base substitution G A intron_variant MELA-AU 2 200252258 200252258 single base substitution G A intron_variant MELA-AU 2 200252345 200252345 single base substitution G A intron_variant MELA-AU 2 200252391 200252391 single base substitution G T intron_variant MELA-AU 2 200253172 200253172 single base substitution G A intron_variant MELA-AU 2 200253921 200253921 single base substitution G A intron_variant MELA-AU 2 200254137 200254137 single base substitution C T intron_variant MELA-AU 2 200254811 200254811 single base substitution G A intron_variant MELA-AU 2 200255248 200255248 single base substitution T A intron_variant MELA-AU 2 200255368 200255368 single base substitution G A intron_variant MELA-AU 2 200255539 200255539 single base substitution G A intron_variant MELA-AU 2 200255695 200255695 single base substitution A T downstream_gene_variant MELA-AU 2 200255695 200255695 single base substitution A T intron_variant MELA-AU 2 200255908 200255908 single base substitution C T downstream_gene_variant MELA-AU 2 200255908 200255908 single base substitution C T intron_variant MELA-AU 2 200256144 200256144 single base substitution A G downstream_gene_variant MELA-AU 2 200256144 200256144 single base substitution A G intron_variant MELA-AU 2 200256173 200256173 single base substitution A T downstream_gene_variant MELA-AU 2 200256173 200256173 single base substitution A T intron_variant MELA-AU 2 200256276 200256276 single base substitution G T downstream_gene_variant MELA-AU 2 200256276 200256276 single base substitution G T intron_variant MELA-AU 2 200256551 200256551 single base substitution G A downstream_gene_variant MELA-AU 2 200256551 200256551 single base substitution G A intron_variant MELA-AU 2 200256608 200256608 single base substitution C T downstream_gene_variant MELA-AU 2 200256608 200256608 single base substitution C T intron_variant MELA-AU 2 200256680 200256680 single base substitution C G downstream_gene_variant MELA-AU 2 200256680 200256680 single base substitution C G intron_variant MELA-AU 2 200256946 200256946 single base substitution G A downstream_gene_variant MELA-AU 2 200256946 200256946 single base substitution G A intron_variant MELA-AU 2 200256984 200256984 single base substitution T C downstream_gene_variant MELA-AU 2 200256984 200256984 single base substitution T C intron_variant MELA-AU 2 200257295 200257295 single base substitution G A downstream_gene_variant MELA-AU 2 200257295 200257295 single base substitution G A intron_variant MELA-AU 2 200257962 200257962 single base substitution C T downstream_gene_variant MELA-AU 2 200257962 200257962 single base substitution C T intron_variant MELA-AU 2 200257975 200257975 single base substitution A T downstream_gene_variant MELA-AU 2 200257975 200257975 single base substitution A T intron_variant MELA-AU 2 200258207 200258207 single base substitution G A downstream_gene_variant MELA-AU 2 200258207 200258207 single base substitution G A intron_variant MELA-AU 2 200258254 200258254 single base substitution C T downstream_gene_variant MELA-AU 2 200258254 200258254 single base substitution C T intron_variant MELA-AU 2 200258472 200258472 single base substitution A T downstream_gene_variant MELA-AU 2 200258472 200258472 single base substitution A T intron_variant MELA-AU 2 200258700 200258700 single base substitution T C downstream_gene_variant MELA-AU 2 200258700 200258700 single base substitution T C intron_variant MELA-AU 2 200259234 200259234 single base substitution G A downstream_gene_variant MELA-AU 2 200259234 200259234 single base substitution G A intron_variant MELA-AU 2 200259984 200259984 single base substitution G A downstream_gene_variant MELA-AU 2 200259984 200259984 single base substitution G A intron_variant MELA-AU 2 200260125 200260125 single base substitution C T downstream_gene_variant MELA-AU 2 200260125 200260125 single base substitution C T intron_variant MELA-AU 2 200260451 200260451 single base substitution G A downstream_gene_variant MELA-AU 2 200260451 200260451 single base substitution G A intron_variant MELA-AU 2 200260603 200260603 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200260603 200260603 single base substitution G A intron_variant MELA-AU 2 200261472 200261472 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200261472 200261472 single base substitution G A intron_variant MELA-AU 2 200261779 200261779 single base substitution G A intron_variant MELA-AU 2 200262160 200262160 single base substitution G A intron_variant MELA-AU 2 200262194 200262194 single base substitution G A intron_variant MELA-AU 2 200262275 200262275 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200262275 200262275 single base substitution G A intron_variant MELA-AU 2 200262371 200262371 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200262371 200262371 single base substitution G A intron_variant MELA-AU 2 200262433 200262433 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200262433 200262433 single base substitution G A intron_variant MELA-AU 2 200262459 200262459 single base substitution G A 3_prime_UTR_variant MELA-AU 2 200262459 200262459 single base substitution G A intron_variant MELA-AU 2 200262499 200262499 single base substitution C T 3_prime_UTR_variant MELA-AU 2 200262499 200262499 single base substitution C T intron_variant MELA-AU 2 200263585 200263585 insertion of <=200bp - T intron_variant MELA-AU 2 200263652 200263652 single base substitution G A intron_variant MELA-AU 2 200263676 200263676 single base substitution T G intron_variant MELA-AU 2 200263875 200263875 single base substitution G A intron_variant MELA-AU 2 200264088 200264088 single base substitution C T intron_variant MELA-AU 2 200264324 200264324 single base substitution C T intron_variant MELA-AU 2 200264357 200264357 single base substitution T G intron_variant MELA-AU 2 200264458 200264458 single base substitution G A intron_variant MELA-AU 2 200264490 200264491 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200264586 200264586 single base substitution G A intron_variant MELA-AU 2 200264616 200264616 single base substitution G A intron_variant MELA-AU 2 200264788 200264788 single base substitution G A intron_variant MELA-AU 2 200264835 200264835 single base substitution G A intron_variant MELA-AU 2 200264835 200264836 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200264873 200264873 single base substitution C T intron_variant MELA-AU 2 200265494 200265494 single base substitution C T intron_variant MELA-AU 2 200265524 200265524 single base substitution C T intron_variant MELA-AU 2 200265595 200265595 single base substitution C T intron_variant MELA-AU 2 200265612 200265612 single base substitution G A intron_variant MELA-AU 2 200266000 200266000 single base substitution G A intron_variant MELA-AU 2 200266046 200266046 single base substitution G A intron_variant MELA-AU 2 200266047 200266047 single base substitution G A intron_variant MELA-AU 2 200266053 200266053 single base substitution G A intron_variant MELA-AU 2 200266418 200266418 single base substitution G A intron_variant MELA-AU 2 200266744 200266744 single base substitution G A intron_variant MELA-AU 2 200266988 200266988 single base substitution G T intron_variant MELA-AU 2 200267521 200267521 single base substitution C T intron_variant MELA-AU 2 200267603 200267603 single base substitution C T intron_variant MELA-AU 2 200267849 200267849 single base substitution G A intron_variant MELA-AU 2 200268132 200268132 single base substitution G A intron_variant MELA-AU 2 200268232 200268232 single base substitution G A intron_variant MELA-AU 2 200268872 200268872 single base substitution G A intron_variant MELA-AU 2 200269013 200269013 single base substitution T C intron_variant MELA-AU 2 200269427 200269427 single base substitution A T intron_variant MELA-AU 2 200269571 200269571 single base substitution C T intron_variant MELA-AU 2 200269675 200269675 single base substitution G A intron_variant MELA-AU 2 200270045 200270045 single base substitution G A intron_variant MELA-AU 2 200270231 200270231 single base substitution G A intron_variant MELA-AU 2 200270589 200270589 single base substitution A C intron_variant MELA-AU 2 200270695 200270695 single base substitution T A intron_variant MELA-AU 2 200271476 200271476 single base substitution G A intron_variant MELA-AU 2 200271806 200271806 single base substitution G A intron_variant MELA-AU 2 200271864 200271864 single base substitution T A intron_variant MELA-AU 2 200272093 200272093 single base substitution A G intron_variant MELA-AU 2 200272278 200272278 single base substitution G A intron_variant MELA-AU 2 200272346 200272346 single base substitution A G intron_variant MELA-AU 2 200272547 200272547 single base substitution G A intron_variant MELA-AU 2 200272701 200272701 single base substitution G A intron_variant MELA-AU 2 200272870 200272870 single base substitution C T intron_variant MELA-AU 2 200273915 200273916 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200274113 200274113 single base substitution G A intron_variant MELA-AU 2 200274115 200274115 single base substitution A G intron_variant MELA-AU 2 200274171 200274171 single base substitution G A intron_variant MELA-AU 2 200274382 200274383 multiple base substitution (>=2bp and <=200bp) GT TG intron_variant MELA-AU 2 200274695 200274695 single base substitution C T intron_variant MELA-AU 2 200275153 200275153 single base substitution C T intron_variant MELA-AU 2 200276108 200276108 single base substitution A G intron_variant MELA-AU 2 200276115 200276115 single base substitution G A intron_variant MELA-AU 2 200276485 200276485 single base substitution G A intron_variant MELA-AU 2 200276602 200276602 single base substitution G A intron_variant MELA-AU 2 200276678 200276678 single base substitution G A intron_variant MELA-AU 2 200277301 200277301 single base substitution T C intron_variant MELA-AU 2 200277435 200277435 single base substitution G A intron_variant MELA-AU 2 200277514 200277514 single base substitution G A intron_variant MELA-AU 2 200277795 200277795 single base substitution G A intron_variant MELA-AU 2 200277853 200277856 deletion of <=200bp ATGT - intron_variant MELA-AU 2 200278092 200278092 single base substitution C T intron_variant MELA-AU 2 200278499 200278499 single base substitution G A intron_variant MELA-AU 2 200278528 200278528 single base substitution C T intron_variant MELA-AU 2 200278969 200278969 single base substitution C T intron_variant MELA-AU 2 200279190 200279190 single base substitution C T intron_variant MELA-AU 2 200279251 200279251 single base substitution G A intron_variant MELA-AU 2 200279718 200279718 single base substitution G A intron_variant MELA-AU 2 200279757 200279757 single base substitution G A intron_variant MELA-AU 2 200280097 200280097 single base substitution A G intron_variant MELA-AU 2 200280107 200280107 single base substitution G A intron_variant MELA-AU 2 200280540 200280540 single base substitution C T intron_variant MELA-AU 2 200280843 200280843 single base substitution T G intron_variant MELA-AU 2 200281314 200281314 single base substitution G A intron_variant MELA-AU 2 200281576 200281576 single base substitution G A intron_variant MELA-AU 2 200281666 200281666 single base substitution G A intron_variant MELA-AU 2 200281707 200281707 single base substitution G A intron_variant MELA-AU 2 200281737 200281737 single base substitution G A intron_variant MELA-AU 2 200281988 200281988 single base substitution G A intron_variant MELA-AU 2 200282090 200282090 single base substitution C T intron_variant MELA-AU 2 200282651 200282651 single base substitution C T intron_variant MELA-AU 2 200282825 200282825 single base substitution C T intron_variant MELA-AU 2 200283014 200283014 single base substitution A G intron_variant MELA-AU 2 200283084 200283084 single base substitution G A intron_variant MELA-AU 2 200283562 200283562 single base substitution G A intron_variant MELA-AU 2 200284088 200284088 single base substitution G A intron_variant MELA-AU 2 200284385 200284385 single base substitution G A intron_variant MELA-AU 2 200284651 200284651 single base substitution G A intron_variant MELA-AU 2 200284948 200284948 single base substitution G A intron_variant MELA-AU 2 200285011 200285011 single base substitution G A intron_variant MELA-AU 2 200285177 200285177 single base substitution G A intron_variant MELA-AU 2 200285195 200285196 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200285660 200285660 single base substitution G T intron_variant MELA-AU 2 200285766 200285766 single base substitution G A intron_variant MELA-AU 2 200285776 200285776 single base substitution G A intron_variant MELA-AU 2 200285779 200285779 single base substitution C T intron_variant MELA-AU 2 200286256 200286256 single base substitution G A intron_variant MELA-AU 2 200286318 200286318 single base substitution C T intron_variant MELA-AU 2 200286432 200286432 single base substitution G A intron_variant MELA-AU 2 200286437 200286437 single base substitution C T intron_variant MELA-AU 2 200286542 200286542 single base substitution G A intron_variant MELA-AU 2 200286563 200286563 single base substitution T A intron_variant MELA-AU 2 200286744 200286744 single base substitution T A intron_variant MELA-AU 2 200286994 200286994 single base substitution G A intron_variant MELA-AU 2 200287000 200287000 single base substitution T C intron_variant MELA-AU 2 200287266 200287266 single base substitution C T intron_variant MELA-AU 2 200288268 200288268 single base substitution G A intron_variant MELA-AU 2 200288800 200288800 single base substitution C T intron_variant MELA-AU 2 200288800 200288800 single base substitution C T upstream_gene_variant MELA-AU 2 200288991 200288991 single base substitution T A intron_variant MELA-AU 2 200288991 200288991 single base substitution T A upstream_gene_variant MELA-AU 2 200289311 200289311 single base substitution T A intron_variant MELA-AU 2 200289311 200289311 single base substitution T A upstream_gene_variant MELA-AU 2 200289450 200289450 single base substitution A C intron_variant MELA-AU 2 200289450 200289450 single base substitution A C upstream_gene_variant MELA-AU 2 200290184 200290184 single base substitution G A intron_variant MELA-AU 2 200290184 200290184 single base substitution G A upstream_gene_variant MELA-AU 2 200290401 200290401 single base substitution G A intron_variant MELA-AU 2 200290401 200290401 single base substitution G A upstream_gene_variant MELA-AU 2 200290958 200290958 single base substitution G A intron_variant MELA-AU 2 200290958 200290958 single base substitution G A upstream_gene_variant MELA-AU 2 200291054 200291054 single base substitution C T intron_variant MELA-AU 2 200291054 200291054 single base substitution C T upstream_gene_variant MELA-AU 2 200291070 200291070 single base substitution G A intron_variant MELA-AU 2 200291070 200291070 single base substitution G A upstream_gene_variant MELA-AU 2 200291430 200291430 single base substitution A G intron_variant MELA-AU 2 200291430 200291430 single base substitution A G upstream_gene_variant MELA-AU 2 200292015 200292015 single base substitution G A intron_variant MELA-AU 2 200292015 200292015 single base substitution G A upstream_gene_variant MELA-AU 2 200292072 200292072 single base substitution G T intron_variant MELA-AU 2 200292072 200292072 single base substitution G T upstream_gene_variant MELA-AU 2 200293012 200293012 single base substitution T G intron_variant MELA-AU 2 200293012 200293012 single base substitution T G upstream_gene_variant MELA-AU 2 200293013 200293013 single base substitution G A intron_variant MELA-AU 2 200293013 200293013 single base substitution G A upstream_gene_variant MELA-AU 2 200293061 200293061 single base substitution G A intron_variant MELA-AU 2 200293061 200293061 single base substitution G A upstream_gene_variant MELA-AU 2 200293202 200293202 single base substitution G A intron_variant MELA-AU 2 200293202 200293202 single base substitution G A upstream_gene_variant MELA-AU 2 200293403 200293403 single base substitution C T intron_variant MELA-AU 2 200293403 200293403 single base substitution C T upstream_gene_variant MELA-AU 2 200293705 200293705 single base substitution G A intron_variant MELA-AU 2 200293815 200293815 single base substitution G A intron_variant MELA-AU 2 200294304 200294304 single base substitution G A intron_variant MELA-AU 2 200294528 200294528 single base substitution G A intron_variant MELA-AU 2 200295224 200295224 single base substitution G A intron_variant MELA-AU 2 200295311 200295311 single base substitution C G intron_variant MELA-AU 2 200295432 200295432 single base substitution G A intron_variant MELA-AU 2 200295766 200295766 single base substitution G A intron_variant MELA-AU 2 200295848 200295848 single base substitution A T intron_variant MELA-AU 2 200295936 200295936 single base substitution C T intron_variant MELA-AU 2 200296146 200296146 single base substitution G A intron_variant MELA-AU 2 200296390 200296390 single base substitution C T intron_variant MELA-AU 2 200296555 200296555 single base substitution G A intron_variant MELA-AU 2 200296596 200296596 single base substitution C T intron_variant MELA-AU 2 200296610 200296610 single base substitution G A intron_variant MELA-AU 2 200296775 200296775 single base substitution A T intron_variant MELA-AU 2 200296842 200296842 single base substitution C T intron_variant MELA-AU 2 200297473 200297473 single base substitution G A intron_variant MELA-AU 2 200298010 200298010 single base substitution C T intron_variant MELA-AU 2 200298226 200298226 single base substitution G A exon_variant MELA-AU 2 200298226 200298226 single base substitution G A intron_variant MELA-AU 2 200298226 200298226 single base substitution G A missense_variant P61S 181C>T MELA-AU 2 200298459 200298459 single base substitution C T intron_variant MELA-AU 2 200298526 200298526 single base substitution G A intron_variant MELA-AU 2 200298668 200298668 single base substitution C A intron_variant MELA-AU 2 200298673 200298673 single base substitution A T intron_variant MELA-AU 2 200298704 200298704 single base substitution A G intron_variant MELA-AU 2 200299199 200299199 single base substitution C T intron_variant MELA-AU 2 200299533 200299533 single base substitution G A intron_variant MELA-AU 2 200299911 200299911 single base substitution G A intron_variant MELA-AU 2 200300175 200300175 single base substitution G A intron_variant MELA-AU 2 200300453 200300453 single base substitution G A intron_variant MELA-AU 2 200300466 200300466 single base substitution G A intron_variant MELA-AU 2 200300720 200300720 single base substitution C T intron_variant MELA-AU 2 200300939 200300939 single base substitution A T intron_variant MELA-AU 2 200301542 200301542 single base substitution G A intron_variant MELA-AU 2 200301594 200301594 single base substitution C T intron_variant MELA-AU 2 200301647 200301647 single base substitution A T intron_variant MELA-AU 2 200302026 200302026 single base substitution T A intron_variant MELA-AU 2 200302498 200302498 single base substitution G A intron_variant MELA-AU 2 200302569 200302569 single base substitution G A intron_variant MELA-AU 2 200303022 200303022 single base substitution A T intron_variant MELA-AU 2 200303472 200303472 single base substitution A C intron_variant MELA-AU 2 200303572 200303572 single base substitution G A intron_variant MELA-AU 2 200303701 200303701 single base substitution A T intron_variant MELA-AU 2 200303740 200303740 single base substitution A T intron_variant MELA-AU 2 200303851 200303851 single base substitution G A intron_variant MELA-AU 2 200304613 200304614 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200304932 200304932 single base substitution G A intron_variant MELA-AU 2 200305205 200305205 single base substitution C T intron_variant MELA-AU 2 200305301 200305301 single base substitution G A intron_variant MELA-AU 2 200305373 200305373 single base substitution T A intron_variant MELA-AU 2 200305695 200305695 single base substitution C T intron_variant MELA-AU 2 200305706 200305706 single base substitution G A intron_variant MELA-AU 2 200306387 200306387 single base substitution G A intron_variant MELA-AU 2 200306552 200306552 single base substitution G A intron_variant MELA-AU 2 200306668 200306668 single base substitution G A intron_variant MELA-AU 2 200306726 200306726 single base substitution A C intron_variant MELA-AU 2 200306831 200306831 single base substitution T A intron_variant MELA-AU 2 200307885 200307885 single base substitution G A intron_variant MELA-AU 2 200308653 200308655 deletion of <=200bp TAT - intron_variant MELA-AU 2 200309247 200309247 single base substitution T A intron_variant MELA-AU 2 200310989 200310989 single base substitution G A intron_variant MELA-AU 2 200311229 200311229 single base substitution T G intron_variant MELA-AU 2 200311326 200311326 single base substitution G A intron_variant MELA-AU 2 200311558 200311558 single base substitution A G intron_variant MELA-AU 2 200312102 200312102 single base substitution A G intron_variant MELA-AU 2 200312193 200312193 single base substitution G A intron_variant MELA-AU 2 200312687 200312687 single base substitution G A intron_variant MELA-AU 2 200312809 200312809 single base substitution G A intron_variant MELA-AU 2 200313009 200313009 single base substitution G A intron_variant MELA-AU 2 200313439 200313439 single base substitution C T intron_variant MELA-AU 2 200313568 200313568 single base substitution G A intron_variant MELA-AU 2 200313882 200313882 single base substitution G A intron_variant MELA-AU 2 200314078 200314078 single base substitution T A intron_variant MELA-AU 2 200314512 200314512 single base substitution G A intron_variant MELA-AU 2 200315305 200315305 single base substitution G A intron_variant MELA-AU 2 200315637 200315637 single base substitution C T intron_variant MELA-AU 2 200315737 200315737 single base substitution C T intron_variant MELA-AU 2 200315745 200315745 single base substitution A T intron_variant MELA-AU 2 200316046 200316046 single base substitution G A downstream_gene_variant MELA-AU 2 200316046 200316046 single base substitution G A intron_variant MELA-AU 2 200316220 200316220 single base substitution T C downstream_gene_variant MELA-AU 2 200316220 200316220 single base substitution T C intron_variant MELA-AU 2 200316271 200316271 single base substitution T C downstream_gene_variant MELA-AU 2 200316271 200316271 single base substitution T C intron_variant MELA-AU 2 200316328 200316328 single base substitution C T downstream_gene_variant MELA-AU 2 200316328 200316328 single base substitution C T intron_variant MELA-AU 2 200316404 200316404 single base substitution G A downstream_gene_variant MELA-AU 2 200316404 200316404 single base substitution G A intron_variant MELA-AU 2 200317210 200317210 single base substitution G A downstream_gene_variant MELA-AU 2 200317210 200317210 single base substitution G A intron_variant MELA-AU 2 200318327 200318327 single base substitution T C downstream_gene_variant MELA-AU 2 200318327 200318327 single base substitution T C intron_variant MELA-AU 2 200319136 200319136 single base substitution G A downstream_gene_variant MELA-AU 2 200319136 200319136 single base substitution G A intron_variant MELA-AU 2 200319387 200319387 single base substitution G A downstream_gene_variant MELA-AU 2 200319387 200319387 single base substitution G A intron_variant MELA-AU 2 200320824 200320824 single base substitution G A intron_variant MELA-AU 2 200320824 200320824 single base substitution G A splice_region_variant MELA-AU 2 200320824 200320824 single base substitution G A upstream_gene_variant MELA-AU 2 200321993 200321993 single base substitution G A intron_variant MELA-AU 2 200321993 200321993 single base substitution G A upstream_gene_variant MELA-AU 2 200322584 200322584 single base substitution G A 5_prime_UTR_variant MELA-AU 2 200322584 200322584 single base substitution G A intron_variant MELA-AU 2 200322584 200322584 single base substitution G A upstream_gene_variant MELA-AU 2 200324925 200324925 single base substitution A G intron_variant MELA-AU 2 200324925 200324925 single base substitution A G upstream_gene_variant MELA-AU 2 200324927 200324927 single base substitution G A intron_variant MELA-AU 2 200324927 200324927 single base substitution G A upstream_gene_variant MELA-AU 2 200325038 200325038 single base substitution C T intron_variant MELA-AU 2 200325038 200325038 single base substitution C T upstream_gene_variant MELA-AU 2 200325050 200325050 single base substitution G A intron_variant MELA-AU 2 200325050 200325050 single base substitution G A upstream_gene_variant MELA-AU 2 200325595 200325595 single base substitution T C intron_variant MELA-AU 2 200325595 200325595 single base substitution T C upstream_gene_variant MELA-AU 2 200325871 200325871 single base substitution C T intron_variant MELA-AU 2 200325871 200325871 single base substitution C T upstream_gene_variant MELA-AU 2 200326031 200326031 single base substitution T A intron_variant MELA-AU 2 200326031 200326031 single base substitution T A upstream_gene_variant MELA-AU 2 200326160 200326160 single base substitution C T intron_variant MELA-AU 2 200326160 200326160 single base substitution C T upstream_gene_variant MELA-AU 2 200327105 200327105 single base substitution C T intron_variant MELA-AU 2 200327105 200327105 single base substitution C T upstream_gene_variant MELA-AU 2 200327178 200327178 single base substitution G A intron_variant MELA-AU 2 200327178 200327178 single base substitution G A upstream_gene_variant MELA-AU 2 200327347 200327347 single base substitution G A intron_variant MELA-AU 2 200327347 200327347 single base substitution G A upstream_gene_variant MELA-AU 2 200327394 200327394 single base substitution G A intron_variant MELA-AU 2 200327394 200327394 single base substitution G A upstream_gene_variant MELA-AU 2 200327424 200327424 single base substitution G A intron_variant MELA-AU 2 200327424 200327424 single base substitution G A upstream_gene_variant MELA-AU 2 200327640 200327641 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 200327640 200327641 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 200328144 200328144 single base substitution G A intron_variant MELA-AU 2 200328144 200328144 single base substitution G A upstream_gene_variant MELA-AU 2 200328603 200328603 single base substitution G A intron_variant MELA-AU 2 200328903 200328903 single base substitution C A intron_variant MELA-AU 2 200329622 200329622 single base substitution C T 5_prime_UTR_variant MELA-AU 2 200329622 200329622 single base substitution C T intron_variant MELA-AU 2 200329716 200329716 single base substitution C T 5_prime_UTR_variant MELA-AU 2 200329716 200329716 single base substitution C T exon_variant MELA-AU 2 200329716 200329716 single base substitution C T intron_variant MELA-AU 2 200329745 200329745 single base substitution C T 5_prime_UTR_variant MELA-AU 2 200329745 200329745 single base substitution C T exon_variant MELA-AU 2 200329745 200329745 single base substitution C T intron_variant MELA-AU 2 200329746 200329746 single base substitution C T 5_prime_UTR_variant MELA-AU 2 200329746 200329746 single base substitution C T exon_variant MELA-AU 2 200329746 200329746 single base substitution C T intron_variant MELA-AU 2 200330279 200330279 single base substitution C T intron_variant MELA-AU 2 200330279 200330279 single base substitution C T upstream_gene_variant MELA-AU 2 200330451 200330451 single base substitution C T intron_variant MELA-AU 2 200330451 200330451 single base substitution C T upstream_gene_variant MELA-AU 2 200330556 200330556 single base substitution G A intron_variant MELA-AU 2 200330556 200330556 single base substitution G A upstream_gene_variant MELA-AU 2 200330772 200330772 single base substitution C T intron_variant MELA-AU 2 200330772 200330772 single base substitution C T upstream_gene_variant MELA-AU 2 200330775 200330775 single base substitution C T intron_variant MELA-AU 2 200330775 200330775 single base substitution C T upstream_gene_variant MELA-AU 2 200330843 200330843 single base substitution C T intron_variant MELA-AU 2 200330843 200330843 single base substitution C T upstream_gene_variant MELA-AU 2 200330917 200330917 single base substitution C T intron_variant MELA-AU 2 200330917 200330917 single base substitution C T upstream_gene_variant MELA-AU 2 200331378 200331378 single base substitution C T intron_variant MELA-AU 2 200331378 200331378 single base substitution C T upstream_gene_variant MELA-AU 2 200331471 200331471 single base substitution G A intron_variant MELA-AU 2 200331471 200331471 single base substitution G A upstream_gene_variant MELA-AU 2 200331639 200331639 single base substitution C T intron_variant MELA-AU 2 200331639 200331639 single base substitution C T upstream_gene_variant MELA-AU 2 200331806 200331806 single base substitution G A intron_variant MELA-AU 2 200331806 200331806 single base substitution G A upstream_gene_variant MELA-AU 2 200331928 200331928 single base substitution C T intron_variant MELA-AU 2 200331928 200331928 single base substitution C T upstream_gene_variant MELA-AU 2 200332091 200332092 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 200332091 200332092 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 200332163 200332163 single base substitution G T intron_variant MELA-AU 2 200332163 200332163 single base substitution G T upstream_gene_variant MELA-AU 2 200332320 200332320 single base substitution G A intron_variant MELA-AU 2 200332320 200332320 single base substitution G A upstream_gene_variant MELA-AU 2 200332688 200332688 single base substitution C T intron_variant MELA-AU 2 200332688 200332688 single base substitution C T upstream_gene_variant MELA-AU 2 200333482 200333482 single base substitution G A intron_variant MELA-AU 2 200333482 200333482 single base substitution G A upstream_gene_variant MELA-AU 2 200333504 200333505 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 200333504 200333505 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 200333693 200333693 single base substitution G A intron_variant MELA-AU 2 200333693 200333693 single base substitution G A upstream_gene_variant MELA-AU 2 200333717 200333717 single base substitution C T intron_variant MELA-AU 2 200333717 200333717 single base substitution C T upstream_gene_variant MELA-AU 2 200333721 200333721 single base substitution G A intron_variant MELA-AU 2 200333721 200333721 single base substitution G A upstream_gene_variant MELA-AU 2 200333779 200333779 single base substitution C T intron_variant MELA-AU 2 200333779 200333779 single base substitution C T upstream_gene_variant MELA-AU 2 200333779 200333780 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 200333779 200333780 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 200333780 200333780 single base substitution C T intron_variant MELA-AU 2 200333780 200333780 single base substitution C T upstream_gene_variant MELA-AU 2 200333870 200333870 single base substitution G A intron_variant MELA-AU 2 200333870 200333870 single base substitution G A upstream_gene_variant MELA-AU 2 200334485 200334485 single base substitution A G intron_variant MELA-AU 2 200334485 200334485 single base substitution A G upstream_gene_variant MELA-AU 2 200334885 200334885 single base substitution G A intron_variant MELA-AU 2 200334885 200334885 single base substitution G A upstream_gene_variant MELA-AU 2 200334993 200334993 single base substitution G A intron_variant MELA-AU 2 200335149 200335149 single base substitution G A intron_variant MELA-AU 2 200335170 200335170 single base substitution G A intron_variant MELA-AU 2 200335529 200335529 single base substitution G A intron_variant MELA-AU 2 200335602 200335602 single base substitution A G intron_variant MELA-AU 2 200335644 200335644 single base substitution C T intron_variant MELA-AU 2 200335915 200335915 single base substitution G A 5_prime_UTR_variant MELA-AU 2 200336205 200336205 single base substitution G A upstream_gene_variant MELA-AU 2 200336348 200336348 single base substitution G A upstream_gene_variant MELA-AU 2 200336994 200336994 single base substitution G A upstream_gene_variant MELA-AU 2 200337756 200337756 single base substitution T G upstream_gene_variant MELA-AU 2 200337804 200337804 single base substitution C T upstream_gene_variant MELA-AU 2 200337866 200337866 single base substitution G A upstream_gene_variant MELA-AU 2 200338001 200338001 single base substitution A G upstream_gene_variant MELA-AU 2 200338230 200338230 single base substitution G A upstream_gene_variant MELA-AU 2 200338255 200338255 single base substitution G A upstream_gene_variant MELA-AU 2 200338521 200338521 single base substitution G A upstream_gene_variant MELA-AU 2 200338589 200338589 single base substitution C T upstream_gene_variant MELA-AU 2 200338833 200338833 single base substitution C T upstream_gene_variant MELA-AU 2 200338898 200338898 single base substitution C T upstream_gene_variant MELA-AU 2 200338969 200338969 single base substitution C T upstream_gene_variant MELA-AU 2 200338971 200338971 single base substitution T A upstream_gene_variant MELA-AU 2 200339109 200339109 single base substitution G A upstream_gene_variant MELA-AU 2 200339315 200339315 single base substitution C T upstream_gene_variant MELA-AU 2 200339542 200339542 single base substitution C T upstream_gene_variant MELA-AU 2 200339642 200339642 single base substitution G A upstream_gene_variant MELA-AU 2 200339688 200339688 single base substitution C T upstream_gene_variant MELA-AU 2 200339701 200339701 single base substitution C T upstream_gene_variant MELA-AU 2 200340099 200340099 single base substitution C T upstream_gene_variant MELA-AU 2 200340150 200340150 single base substitution G A upstream_gene_variant MELA-AU 2 200340223 200340223 single base substitution G A upstream_gene_variant MELA-AU 2 200340313 200340313 single base substitution C T upstream_gene_variant MELA-AU 2 200340431 200340431 single base substitution G A upstream_gene_variant MELA-AU 2 200340443 200340443 single base substitution G A upstream_gene_variant MELA-AU 2 200340658 200340658 single base substitution G A upstream_gene_variant MELA-AU 2 200340848 200340848 single base substitution G A upstream_gene_variant MELA-AU 2 200340935 200340935 single base substitution T C upstream_gene_variant MELA-AU 2 200340957 200340957 single base substitution T A upstream_gene_variant ORCA-IN 2 200131103 200131103 single base substitution C T downstream_gene_variant ORCA-IN 2 200134149 200134149 single base substitution C T downstream_gene_variant ORCA-IN 2 200213440 200213440 single base substitution G T exon_variant ORCA-IN 2 200213440 200213440 single base substitution G T missense_variant A268E 803C>A ORCA-IN 2 200213440 200213440 single base substitution G T missense_variant A327E 980C>A ORCA-IN 2 200213440 200213440 single base substitution G T missense_variant A386E 1157C>A ORCA-IN 2 200217150 200217150 insertion of <=200bp - T intron_variant ORCA-IN 2 200217934 200217934 single base substitution G A intron_variant ORCA-IN 2 200238174 200238174 single base substitution G A intron_variant ORCA-IN 2 200238174 200238174 single base substitution G A upstream_gene_variant ORCA-IN 2 200238615 200238615 single base substitution G A intron_variant ORCA-IN 2 200238615 200238615 single base substitution G A upstream_gene_variant ORCA-IN 2 200265246 200265246 single base substitution C T intron_variant ORCA-IN 2 200280084 200280084 single base substitution C T intron_variant ORCA-IN 2 200281684 200281684 single base substitution G A intron_variant ORCA-IN 2 200281965 200281965 single base substitution G T intron_variant ORCA-IN 2 200287024 200287024 single base substitution A G intron_variant ORCA-IN 2 200298075 200298075 single base substitution G A exon_variant ORCA-IN 2 200298075 200298075 single base substitution G A intron_variant ORCA-IN 2 200298075 200298075 single base substitution G A missense_variant A111V 332C>T OV-AU 2 200130162 200130162 single base substitution C T downstream_gene_variant OV-AU 2 200130510 200130510 single base substitution G T downstream_gene_variant OV-AU 2 200131753 200131753 single base substitution G A downstream_gene_variant OV-AU 2 200132032 200132032 single base substitution A G downstream_gene_variant OV-AU 2 200134636 200134636 single base substitution C G 3_prime_UTR_variant OV-AU 2 200134636 200134636 single base substitution C G downstream_gene_variant OV-AU 2 200137724 200137724 single base substitution G A intron_variant OV-AU 2 200137753 200137753 single base substitution G A intron_variant OV-AU 2 200139067 200139067 single base substitution C T intron_variant OV-AU 2 200139659 200139659 single base substitution A T intron_variant OV-AU 2 200140066 200140066 single base substitution C G intron_variant OV-AU 2 200144538 200144538 single base substitution G T intron_variant OV-AU 2 200145758 200145758 single base substitution T G intron_variant OV-AU 2 200146484 200146484 single base substitution G A intron_variant OV-AU 2 200148981 200148981 single base substitution G A intron_variant OV-AU 2 200149745 200149745 single base substitution T A intron_variant OV-AU 2 200150433 200150433 single base substitution T G intron_variant OV-AU 2 200151179 200151179 single base substitution G T intron_variant OV-AU 2 200151553 200151553 single base substitution C A intron_variant OV-AU 2 200151789 200151789 single base substitution A G intron_variant OV-AU 2 200152049 200152049 single base substitution C A intron_variant OV-AU 2 200155268 200155268 single base substitution C A intron_variant OV-AU 2 200157493 200157493 single base substitution G C intron_variant OV-AU 2 200158085 200158085 single base substitution G T intron_variant OV-AU 2 200158417 200158417 single base substitution T A intron_variant OV-AU 2 200160822 200160822 single base substitution C A intron_variant OV-AU 2 200162418 200162418 single base substitution T C intron_variant OV-AU 2 200169662 200169662 single base substitution T C downstream_gene_variant OV-AU 2 200169662 200169662 single base substitution T C intron_variant OV-AU 2 200169678 200169678 single base substitution C A downstream_gene_variant OV-AU 2 200169678 200169678 single base substitution C A intron_variant OV-AU 2 200172327 200172327 single base substitution A T downstream_gene_variant OV-AU 2 200172327 200172327 single base substitution A T intron_variant OV-AU 2 200172350 200172350 single base substitution G C downstream_gene_variant OV-AU 2 200172350 200172350 single base substitution G C intron_variant OV-AU 2 200173913 200173913 single base substitution A G intron_variant OV-AU 2 200174884 200174884 single base substitution G A intron_variant OV-AU 2 200175333 200175333 single base substitution A G intron_variant OV-AU 2 200179110 200179110 single base substitution G C intron_variant OV-AU 2 200181665 200181665 single base substitution A G intron_variant OV-AU 2 200182130 200182130 single base substitution T C intron_variant OV-AU 2 200182270 200182270 single base substitution A G intron_variant OV-AU 2 200183560 200183560 single base substitution G T intron_variant OV-AU 2 200183719 200183719 single base substitution G T intron_variant OV-AU 2 200183910 200183910 single base substitution C G intron_variant OV-AU 2 200185786 200185786 single base substitution A T intron_variant OV-AU 2 200186922 200186922 single base substitution G T intron_variant OV-AU 2 200193017 200193017 single base substitution A C intron_variant OV-AU 2 200193905 200193905 single base substitution T A intron_variant OV-AU 2 200193905 200193905 single base substitution T A upstream_gene_variant OV-AU 2 200194339 200194339 single base substitution C T intron_variant OV-AU 2 200194339 200194339 single base substitution C T upstream_gene_variant OV-AU 2 200202197 200202197 single base substitution A C intron_variant OV-AU 2 200202508 200202508 single base substitution T G intron_variant OV-AU 2 200202864 200202864 single base substitution A G intron_variant OV-AU 2 200203946 200203946 single base substitution A G intron_variant OV-AU 2 200206586 200206586 single base substitution C T intron_variant OV-AU 2 200208872 200208872 single base substitution A G downstream_gene_variant OV-AU 2 200208872 200208872 single base substitution A G intron_variant OV-AU 2 200210147 200210147 single base substitution C T downstream_gene_variant OV-AU 2 200210147 200210147 single base substitution C T intron_variant OV-AU 2 200210400 200210400 single base substitution C A downstream_gene_variant OV-AU 2 200210400 200210400 single base substitution C A intron_variant OV-AU 2 200212609 200212609 single base substitution A G exon_variant OV-AU 2 200212609 200212609 single base substitution A G intron_variant OV-AU 2 200214465 200214465 single base substitution T C intron_variant OV-AU 2 200222929 200222929 single base substitution G A intron_variant OV-AU 2 200223311 200223311 single base substitution A G intron_variant OV-AU 2 200227785 200227785 single base substitution C A intron_variant OV-AU 2 200227960 200227960 single base substitution C T intron_variant OV-AU 2 200236951 200236951 single base substitution T C intron_variant OV-AU 2 200236951 200236951 single base substitution T C upstream_gene_variant OV-AU 2 200236962 200236962 single base substitution G C intron_variant OV-AU 2 200236962 200236962 single base substitution G C upstream_gene_variant OV-AU 2 200242203 200242203 single base substitution A G intron_variant OV-AU 2 200244215 200244215 single base substitution G C intron_variant OV-AU 2 200245657 200245657 single base substitution G A intron_variant OV-AU 2 200246875 200246875 single base substitution G A intron_variant OV-AU 2 200248020 200248020 single base substitution C A intron_variant OV-AU 2 200251256 200251256 single base substitution G A intron_variant OV-AU 2 200251740 200251740 single base substitution A G intron_variant OV-AU 2 200252988 200252988 single base substitution A G intron_variant OV-AU 2 200254188 200254188 single base substitution C A intron_variant OV-AU 2 200259920 200259920 single base substitution T G downstream_gene_variant OV-AU 2 200259920 200259920 single base substitution T G intron_variant OV-AU 2 200262748 200262748 single base substitution C A intron_variant OV-AU 2 200265322 200265322 single base substitution G T intron_variant OV-AU 2 200267064 200267064 single base substitution C T intron_variant OV-AU 2 200275978 200275978 single base substitution C A intron_variant OV-AU 2 200278128 200278128 single base substitution C A intron_variant OV-AU 2 200278697 200278697 single base substitution G A intron_variant OV-AU 2 200279585 200279585 single base substitution T C intron_variant OV-AU 2 200285649 200285649 single base substitution A T intron_variant OV-AU 2 200289764 200289764 single base substitution T A intron_variant OV-AU 2 200289764 200289764 single base substitution T A upstream_gene_variant OV-AU 2 200291266 200291266 single base substitution C T intron_variant OV-AU 2 200291266 200291266 single base substitution C T upstream_gene_variant OV-AU 2 200294992 200294992 single base substitution A G intron_variant OV-AU 2 200300221 200300221 single base substitution G A intron_variant OV-AU 2 200305302 200305302 single base substitution G T intron_variant OV-AU 2 200311355 200311355 single base substitution C A intron_variant OV-AU 2 200313891 200313891 single base substitution A T intron_variant OV-AU 2 200315661 200315661 single base substitution T G intron_variant OV-AU 2 200318260 200318260 single base substitution T G downstream_gene_variant OV-AU 2 200318260 200318260 single base substitution T G intron_variant OV-AU 2 200318731 200318731 single base substitution T A downstream_gene_variant OV-AU 2 200318731 200318731 single base substitution T A intron_variant OV-AU 2 200324079 200324079 single base substitution C A intron_variant OV-AU 2 200324079 200324079 single base substitution C A upstream_gene_variant OV-AU 2 200324481 200324481 single base substitution T C intron_variant OV-AU 2 200324481 200324481 single base substitution T C upstream_gene_variant OV-AU 2 200326193 200326193 single base substitution C A intron_variant OV-AU 2 200326193 200326193 single base substitution C A upstream_gene_variant OV-AU 2 200326392 200326392 single base substitution C A intron_variant OV-AU 2 200326392 200326392 single base substitution C A upstream_gene_variant OV-AU 2 200329302 200329302 single base substitution C T intron_variant OV-AU 2 200335030 200335030 single base substitution G T intron_variant OV-AU 2 200335942 200335942 single base substitution T C 5_prime_UTR_variant OV-AU 2 200337245 200337245 single base substitution G T upstream_gene_variant OV-AU 2 200339351 200339351 single base substitution A G upstream_gene_variant OV-AU 2 200339564 200339564 single base substitution C T upstream_gene_variant OV-US 2 200137336 200137336 single base substitution C T synonymous_variant A482A 1446G>A OV-US 2 200137336 200137336 single base substitution C T synonymous_variant A541A 1623G>A OV-US 2 200137336 200137336 single base substitution C T synonymous_variant A600A 1800G>A PACA-AU 2 200133103 200133103 single base substitution T G downstream_gene_variant PACA-AU 2 200134731 200134731 single base substitution G T 3_prime_UTR_variant PACA-AU 2 200134731 200134731 single base substitution G T downstream_gene_variant PACA-AU 2 200135650 200135650 single base substitution G A 3_prime_UTR_variant PACA-AU 2 200135650 200135650 single base substitution G A downstream_gene_variant PACA-AU 2 200137846 200137846 single base substitution C G intron_variant PACA-AU 2 200138664 200138664 single base substitution G A intron_variant PACA-AU 2 200139358 200139358 single base substitution C T intron_variant PACA-AU 2 200140316 200140316 single base substitution A T intron_variant PACA-AU 2 200141543 200141543 single base substitution C T intron_variant PACA-AU 2 200142493 200142493 single base substitution A G intron_variant PACA-AU 2 200145202 200145202 single base substitution C G intron_variant PACA-AU 2 200146008 200146008 single base substitution T C intron_variant PACA-AU 2 200146009 200146009 single base substitution A G intron_variant PACA-AU 2 200147798 200147798 single base substitution A G intron_variant PACA-AU 2 200148329 200148329 single base substitution T A intron_variant PACA-AU 2 200148445 200148445 single base substitution C T intron_variant PACA-AU 2 200157554 200157554 single base substitution T A intron_variant PACA-AU 2 200158171 200158171 deletion of <=200bp A - intron_variant PACA-AU 2 200159630 200159631 deletion of <=200bp CT - intron_variant PACA-AU 2 200160668 200160668 single base substitution A T intron_variant PACA-AU 2 200162445 200162445 single base substitution T A intron_variant PACA-AU 2 200163029 200163029 single base substitution C T intron_variant PACA-AU 2 200165117 200165117 single base substitution A G intron_variant PACA-AU 2 200169339 200169339 deletion of <=200bp C - downstream_gene_variant PACA-AU 2 200169339 200169339 deletion of <=200bp C - intron_variant PACA-AU 2 200169502 200169502 single base substitution A G downstream_gene_variant PACA-AU 2 200169502 200169502 single base substitution A G intron_variant PACA-AU 2 200171849 200171849 single base substitution G A downstream_gene_variant PACA-AU 2 200171849 200171849 single base substitution G A intron_variant PACA-AU 2 200172904 200172904 single base substitution A G downstream_gene_variant PACA-AU 2 200172904 200172904 single base substitution A G intron_variant PACA-AU 2 200174515 200174515 single base substitution A T intron_variant PACA-AU 2 200177624 200177624 single base substitution A G intron_variant PACA-AU 2 200178669 200178669 single base substitution C T intron_variant PACA-AU 2 200181342 200181342 single base substitution G T intron_variant PACA-AU 2 200183391 200183391 single base substitution A T intron_variant PACA-AU 2 200183491 200183491 single base substitution A C intron_variant PACA-AU 2 200184107 200184107 single base substitution G C intron_variant PACA-AU 2 200184307 200184307 single base substitution C T intron_variant PACA-AU 2 200195152 200195152 single base substitution G T intron_variant PACA-AU 2 200195152 200195152 single base substitution G T upstream_gene_variant PACA-AU 2 200195186 200195186 single base substitution C T intron_variant PACA-AU 2 200195186 200195186 single base substitution C T upstream_gene_variant PACA-AU 2 200196315 200196315 single base substitution G A intron_variant PACA-AU 2 200196315 200196315 single base substitution G A upstream_gene_variant PACA-AU 2 200201517 200201517 single base substitution G T intron_variant PACA-AU 2 200201886 200201886 single base substitution T G intron_variant PACA-AU 2 200213926 200213926 single base substitution A G intron_variant PACA-AU 2 200216890 200216890 single base substitution C A intron_variant PACA-AU 2 200217244 200217244 single base substitution C T intron_variant PACA-AU 2 200218865 200218865 single base substitution G C intron_variant PACA-AU 2 200224321 200224321 single base substitution A C intron_variant PACA-AU 2 200225983 200225983 single base substitution C T intron_variant PACA-AU 2 200231000 200231000 single base substitution C T downstream_gene_variant PACA-AU 2 200231000 200231000 single base substitution C T intron_variant PACA-AU 2 200234505 200234505 single base substitution G T intron_variant PACA-AU 2 200234505 200234505 single base substitution G T upstream_gene_variant PACA-AU 2 200234527 200234527 single base substitution C T intron_variant PACA-AU 2 200234527 200234527 single base substitution C T upstream_gene_variant PACA-AU 2 200234636 200234636 single base substitution G T intron_variant PACA-AU 2 200234636 200234636 single base substitution G T upstream_gene_variant PACA-AU 2 200235934 200235934 single base substitution G T intron_variant PACA-AU 2 200235934 200235934 single base substitution G T upstream_gene_variant PACA-AU 2 200238255 200238255 single base substitution C G intron_variant PACA-AU 2 200238255 200238255 single base substitution C G upstream_gene_variant PACA-AU 2 200240783 200240783 single base substitution A T intron_variant PACA-AU 2 200242593 200242593 single base substitution C G intron_variant PACA-AU 2 200244439 200244439 single base substitution C T intron_variant PACA-AU 2 200248876 200248876 single base substitution C T intron_variant PACA-AU 2 200252401 200252401 single base substitution C T intron_variant PACA-AU 2 200253310 200253310 single base substitution C A intron_variant PACA-AU 2 200255972 200255972 single base substitution C T downstream_gene_variant PACA-AU 2 200255972 200255972 single base substitution C T intron_variant PACA-AU 2 200258193 200258193 single base substitution C T downstream_gene_variant PACA-AU 2 200258193 200258193 single base substitution C T intron_variant PACA-AU 2 200260124 200260124 single base substitution C A downstream_gene_variant PACA-AU 2 200260124 200260124 single base substitution C A intron_variant PACA-AU 2 200263260 200263260 single base substitution A G intron_variant PACA-AU 2 200267884 200267884 single base substitution G A intron_variant PACA-AU 2 200268159 200268159 single base substitution G A intron_variant PACA-AU 2 200272030 200272030 single base substitution A G intron_variant PACA-AU 2 200272911 200272911 single base substitution G A intron_variant PACA-AU 2 200273011 200273011 single base substitution G A intron_variant PACA-AU 2 200276449 200276449 single base substitution G A intron_variant PACA-AU 2 200277706 200277706 single base substitution G T intron_variant PACA-AU 2 200278118 200278118 single base substitution A C intron_variant PACA-AU 2 200278242 200278242 single base substitution A T intron_variant PACA-AU 2 200278910 200278910 single base substitution C A intron_variant PACA-AU 2 200281765 200281765 single base substitution A T intron_variant PACA-AU 2 200284471 200284471 insertion of <=200bp - A intron_variant PACA-AU 2 200285254 200285254 single base substitution T G intron_variant PACA-AU 2 200290315 200290315 single base substitution T G intron_variant PACA-AU 2 200290315 200290315 single base substitution T G upstream_gene_variant PACA-AU 2 200292201 200292201 deletion of <=200bp T - intron_variant PACA-AU 2 200292201 200292201 deletion of <=200bp T - upstream_gene_variant PACA-AU 2 200292362 200292362 single base substitution G A intron_variant PACA-AU 2 200292362 200292362 single base substitution G A upstream_gene_variant PACA-AU 2 200295989 200295989 single base substitution C T intron_variant PACA-AU 2 200297495 200297495 single base substitution C T intron_variant PACA-AU 2 200297748 200297748 single base substitution A C intron_variant PACA-AU 2 200304833 200304833 insertion of <=200bp - AAC intron_variant PACA-AU 2 200305112 200305115 deletion of <=200bp TGCT - intron_variant PACA-AU 2 200309035 200309035 single base substitution C T intron_variant PACA-AU 2 200311385 200311385 single base substitution C T intron_variant PACA-AU 2 200315954 200315954 single base substitution G T downstream_gene_variant PACA-AU 2 200315954 200315954 single base substitution G T intron_variant PACA-AU 2 200317366 200317366 single base substitution G C downstream_gene_variant PACA-AU 2 200317366 200317366 single base substitution G C intron_variant PACA-AU 2 200322766 200322766 single base substitution T G 5_prime_UTR_variant PACA-AU 2 200322766 200322766 single base substitution T G intron_variant PACA-AU 2 200322766 200322766 single base substitution T G upstream_gene_variant PACA-AU 2 200323505 200323505 single base substitution C T intron_variant PACA-AU 2 200323505 200323505 single base substitution C T upstream_gene_variant PACA-AU 2 200323511 200323511 single base substitution C T intron_variant PACA-AU 2 200323511 200323511 single base substitution C T upstream_gene_variant PACA-AU 2 200324060 200324060 single base substitution G A intron_variant PACA-AU 2 200324060 200324060 single base substitution G A upstream_gene_variant PACA-AU 2 200324623 200324623 single base substitution G C intron_variant PACA-AU 2 200324623 200324623 single base substitution G C upstream_gene_variant PACA-AU 2 200326947 200326964 deletion of <=200bp GGGCCTGCCTCTTCCCCT - intron_variant PACA-AU 2 200326947 200326964 deletion of <=200bp GGGCCTGCCTCTTCCCCT - upstream_gene_variant PACA-AU 2 200328325 200328325 single base substitution C T intron_variant PACA-AU 2 200328325 200328325 single base substitution C T upstream_gene_variant PACA-AU 2 200328913 200328913 single base substitution G A intron_variant PACA-AU 2 200330070 200330070 insertion of <=200bp - A intron_variant PACA-AU 2 200330070 200330070 insertion of <=200bp - A upstream_gene_variant PACA-AU 2 200332837 200332837 single base substitution G A intron_variant PACA-AU 2 200332837 200332837 single base substitution G A upstream_gene_variant PACA-AU 2 200333670 200333670 single base substitution G T intron_variant PACA-AU 2 200333670 200333670 single base substitution G T upstream_gene_variant PACA-AU 2 200333834 200333834 single base substitution C A intron_variant PACA-AU 2 200333834 200333834 single base substitution C A upstream_gene_variant PACA-AU 2 200334263 200334263 single base substitution T G intron_variant PACA-AU 2 200334263 200334263 single base substitution T G upstream_gene_variant PACA-AU 2 200335426 200335426 single base substitution G A intron_variant PACA-AU 2 200336525 200336525 single base substitution G T upstream_gene_variant PACA-AU 2 200338030 200338030 single base substitution C T upstream_gene_variant PACA-CA 2 200129915 200129915 single base substitution G T downstream_gene_variant PACA-CA 2 200130510 200130510 single base substitution G T downstream_gene_variant PACA-CA 2 200130706 200130706 single base substitution G C downstream_gene_variant PACA-CA 2 200131773 200131773 single base substitution A G downstream_gene_variant PACA-CA 2 200132315 200132315 single base substitution G T downstream_gene_variant PACA-CA 2 200133422 200133422 single base substitution C T downstream_gene_variant PACA-CA 2 200133887 200133887 single base substitution G A downstream_gene_variant PACA-CA 2 200134239 200134239 single base substitution C T 3_prime_UTR_variant PACA-CA 2 200134239 200134239 single base substitution C T downstream_gene_variant PACA-CA 2 200134752 200134752 single base substitution G A 3_prime_UTR_variant PACA-CA 2 200134752 200134752 single base substitution G A downstream_gene_variant PACA-CA 2 200136687 200136687 single base substitution G A 3_prime_UTR_variant PACA-CA 2 200136687 200136687 single base substitution G A downstream_gene_variant PACA-CA 2 200137158 200137158 single base substitution T C missense_variant I542V 1624A>G PACA-CA 2 200137158 200137158 single base substitution T C missense_variant I601V 1801A>G PACA-CA 2 200137158 200137158 single base substitution T C missense_variant I660V 1978A>G PACA-CA 2 200138202 200138202 single base substitution T C intron_variant PACA-CA 2 200138426 200138426 single base substitution T C intron_variant PACA-CA 2 200139852 200139852 single base substitution G A intron_variant PACA-CA 2 200141179 200141179 single base substitution C A intron_variant PACA-CA 2 200142660 200142660 single base substitution A T intron_variant PACA-CA 2 200143514 200143514 single base substitution C T intron_variant PACA-CA 2 200144948 200144948 single base substitution C T intron_variant PACA-CA 2 200146007 200146007 single base substitution G A intron_variant PACA-CA 2 200146662 200146662 single base substitution T C intron_variant PACA-CA 2 200147253 200147253 single base substitution T C intron_variant PACA-CA 2 200148385 200148385 single base substitution C T intron_variant PACA-CA 2 200148398 200148398 single base substitution A G intron_variant PACA-CA 2 200150710 200150710 single base substitution T A intron_variant PACA-CA 2 200150723 200150723 single base substitution A G intron_variant PACA-CA 2 200152310 200152310 deletion of <=200bp G - intron_variant PACA-CA 2 200155279 200155279 single base substitution G A intron_variant PACA-CA 2 200155304 200155304 single base substitution A G intron_variant PACA-CA 2 200158584 200158584 single base substitution G T intron_variant PACA-CA 2 200158678 200158678 single base substitution A G intron_variant PACA-CA 2 200160815 200160815 single base substitution T C intron_variant PACA-CA 2 200161782 200161782 single base substitution A T intron_variant PACA-CA 2 200162756 200162756 single base substitution G A intron_variant PACA-CA 2 200165646 200165646 single base substitution G A intron_variant PACA-CA 2 200166208 200166208 single base substitution G T intron_variant PACA-CA 2 200167727 200167727 single base substitution C G intron_variant PACA-CA 2 200168755 200168755 single base substitution C T downstream_gene_variant PACA-CA 2 200168755 200168755 single base substitution C T intron_variant PACA-CA 2 200169501 200169501 single base substitution G A downstream_gene_variant PACA-CA 2 200169501 200169501 single base substitution G A intron_variant PACA-CA 2 200173464 200173464 single base substitution G A downstream_gene_variant PACA-CA 2 200173464 200173464 single base substitution G A intron_variant PACA-CA 2 200175072 200175072 single base substitution A T intron_variant PACA-CA 2 200176011 200176011 single base substitution A G intron_variant PACA-CA 2 200178407 200178407 single base substitution T C intron_variant PACA-CA 2 200178449 200178449 single base substitution C T intron_variant PACA-CA 2 200179461 200179461 single base substitution C T intron_variant PACA-CA 2 200183024 200183024 single base substitution C G intron_variant PACA-CA 2 200183061 200183061 single base substitution G A intron_variant PACA-CA 2 200184539 200184539 single base substitution G A intron_variant PACA-CA 2 200188265 200188265 single base substitution G T intron_variant PACA-CA 2 200188705 200188705 single base substitution T A intron_variant PACA-CA 2 200189625 200189625 single base substitution C T intron_variant PACA-CA 2 200189811 200189811 single base substitution G A intron_variant PACA-CA 2 200192050 200192050 single base substitution G C intron_variant PACA-CA 2 200194293 200194293 single base substitution A T intron_variant PACA-CA 2 200194293 200194293 single base substitution A T upstream_gene_variant PACA-CA 2 200194906 200194906 single base substitution C T intron_variant PACA-CA 2 200194906 200194906 single base substitution C T upstream_gene_variant PACA-CA 2 200198216 200198216 single base substitution G A intron_variant PACA-CA 2 200198216 200198216 single base substitution G A upstream_gene_variant PACA-CA 2 200199849 200199849 single base substitution G C intron_variant PACA-CA 2 200204300 200204300 deletion of <=200bp T - intron_variant PACA-CA 2 200205472 200205472 single base substitution G A intron_variant PACA-CA 2 200208285 200208285 single base substitution T C downstream_gene_variant PACA-CA 2 200208285 200208285 single base substitution T C intron_variant PACA-CA 2 200208469 200208469 single base substitution G A downstream_gene_variant PACA-CA 2 200208469 200208469 single base substitution G A intron_variant PACA-CA 2 200208660 200208660 single base substitution C T downstream_gene_variant PACA-CA 2 200208660 200208660 single base substitution C T intron_variant PACA-CA 2 200210594 200210594 single base substitution T C downstream_gene_variant PACA-CA 2 200210594 200210594 single base substitution T C intron_variant PACA-CA 2 200210679 200210679 single base substitution A G downstream_gene_variant PACA-CA 2 200210679 200210679 single base substitution A G intron_variant PACA-CA 2 200211310 200211310 single base substitution A G downstream_gene_variant PACA-CA 2 200211310 200211310 single base substitution A G intron_variant PACA-CA 2 200212255 200212255 single base substitution G A exon_variant PACA-CA 2 200212255 200212255 single base substitution G A intron_variant PACA-CA 2 200212980 200212980 single base substitution T C exon_variant PACA-CA 2 200212980 200212980 single base substitution T C intron_variant PACA-CA 2 200216194 200216194 single base substitution C T intron_variant PACA-CA 2 200216704 200216704 single base substitution G A intron_variant PACA-CA 2 200218023 200218023 single base substitution A C intron_variant PACA-CA 2 200224876 200224876 single base substitution T G intron_variant PACA-CA 2 200225021 200225021 single base substitution C T intron_variant PACA-CA 2 200228081 200228081 single base substitution C A intron_variant PACA-CA 2 200229330 200229330 single base substitution G A downstream_gene_variant PACA-CA 2 200229330 200229330 single base substitution G A intron_variant PACA-CA 2 200229603 200229603 single base substitution T C downstream_gene_variant PACA-CA 2 200229603 200229603 single base substitution T C intron_variant PACA-CA 2 200229983 200229983 single base substitution A C downstream_gene_variant PACA-CA 2 200229983 200229983 single base substitution A C intron_variant PACA-CA 2 200230004 200230004 single base substitution A G downstream_gene_variant PACA-CA 2 200230004 200230004 single base substitution A G intron_variant PACA-CA 2 200230186 200230186 single base substitution T C downstream_gene_variant PACA-CA 2 200230186 200230186 single base substitution T C intron_variant PACA-CA 2 200231494 200231494 single base substitution T A downstream_gene_variant PACA-CA 2 200231494 200231494 single base substitution T A intron_variant PACA-CA 2 200233218 200233218 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 200233218 200233218 insertion of <=200bp - A intron_variant PACA-CA 2 200233347 200233347 single base substitution T C exon_variant PACA-CA 2 200233347 200233347 single base substitution T C intron_variant PACA-CA 2 200233347 200233347 single base substitution T C synonymous_variant K168K 504A>G PACA-CA 2 200233347 200233347 single base substitution T C synonymous_variant K227K 681A>G PACA-CA 2 200235351 200235351 single base substitution C T intron_variant PACA-CA 2 200235351 200235351 single base substitution C T upstream_gene_variant PACA-CA 2 200235356 200235356 single base substitution C T intron_variant PACA-CA 2 200235356 200235356 single base substitution C T upstream_gene_variant PACA-CA 2 200238867 200238867 single base substitution C T intron_variant PACA-CA 2 200239663 200239663 single base substitution G A intron_variant PACA-CA 2 200240573 200240573 single base substitution G A intron_variant PACA-CA 2 200244763 200244763 single base substitution C T intron_variant PACA-CA 2 200246343 200246343 single base substitution G T intron_variant PACA-CA 2 200247198 200247198 single base substitution C A intron_variant PACA-CA 2 200248895 200248895 single base substitution G C intron_variant PACA-CA 2 200252052 200252052 single base substitution C T intron_variant PACA-CA 2 200254505 200254505 single base substitution A G intron_variant PACA-CA 2 200255264 200255264 insertion of <=200bp - C intron_variant PACA-CA 2 200257181 200257181 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 200257181 200257181 deletion of <=200bp T - intron_variant PACA-CA 2 200258465 200258465 single base substitution A T downstream_gene_variant PACA-CA 2 200258465 200258465 single base substitution A T intron_variant PACA-CA 2 200260056 200260056 single base substitution T A downstream_gene_variant PACA-CA 2 200260056 200260056 single base substitution T A intron_variant PACA-CA 2 200261930 200261930 single base substitution C T intron_variant PACA-CA 2 200265763 200265763 single base substitution T C intron_variant PACA-CA 2 200266333 200266333 deletion of <=200bp A - intron_variant PACA-CA 2 200266744 200266744 single base substitution G C intron_variant PACA-CA 2 200268902 200268902 single base substitution C A intron_variant PACA-CA 2 200272030 200272030 single base substitution A G intron_variant PACA-CA 2 200273134 200273134 single base substitution T C intron_variant PACA-CA 2 200275015 200275015 single base substitution G A intron_variant PACA-CA 2 200281676 200281676 single base substitution G A intron_variant PACA-CA 2 200290985 200290985 single base substitution A G intron_variant PACA-CA 2 200290985 200290985 single base substitution A G upstream_gene_variant PACA-CA 2 200291550 200291550 single base substitution G C intron_variant PACA-CA 2 200291550 200291550 single base substitution G C upstream_gene_variant PACA-CA 2 200291833 200291833 single base substitution T A intron_variant PACA-CA 2 200291833 200291833 single base substitution T A upstream_gene_variant PACA-CA 2 200292187 200292187 single base substitution A G intron_variant PACA-CA 2 200292187 200292187 single base substitution A G upstream_gene_variant PACA-CA 2 200295500 200295500 single base substitution G T intron_variant PACA-CA 2 200297967 200297967 single base substitution C G intron_variant PACA-CA 2 200299771 200299771 single base substitution G A intron_variant PACA-CA 2 200299875 200299875 single base substitution T G intron_variant PACA-CA 2 200300182 200300182 single base substitution C A intron_variant PACA-CA 2 200302186 200302186 single base substitution A T intron_variant PACA-CA 2 200306386 200306386 single base substitution C T intron_variant PACA-CA 2 200306877 200306877 single base substitution G T intron_variant PACA-CA 2 200310158 200310158 single base substitution G A intron_variant PACA-CA 2 200312039 200312039 single base substitution A G intron_variant PACA-CA 2 200316413 200316413 single base substitution C G downstream_gene_variant PACA-CA 2 200316413 200316413 single base substitution C G intron_variant PACA-CA 2 200318468 200318468 single base substitution C G downstream_gene_variant PACA-CA 2 200318468 200318468 single base substitution C G intron_variant PACA-CA 2 200319679 200319679 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 200319679 200319679 insertion of <=200bp - A intron_variant PACA-CA 2 200320917 200320917 single base substitution C A intron_variant PACA-CA 2 200320917 200320917 single base substitution C A upstream_gene_variant PACA-CA 2 200322204 200322204 single base substitution C T 5_prime_UTR_variant PACA-CA 2 200322204 200322204 single base substitution C T intron_variant PACA-CA 2 200322204 200322204 single base substitution C T upstream_gene_variant PACA-CA 2 200322306 200322306 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 2 200322306 200322306 single base substitution G C intron_variant PACA-CA 2 200322306 200322306 single base substitution G C upstream_gene_variant PACA-CA 2 200322665 200322665 single base substitution T C 5_prime_UTR_variant PACA-CA 2 200322665 200322665 single base substitution T C intron_variant PACA-CA 2 200322665 200322665 single base substitution T C upstream_gene_variant PACA-CA 2 200322735 200322735 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 2 200322735 200322735 single base substitution G C intron_variant PACA-CA 2 200322735 200322735 single base substitution G C upstream_gene_variant PACA-CA 2 200324167 200324167 single base substitution G A intron_variant PACA-CA 2 200324167 200324167 single base substitution G A upstream_gene_variant PACA-CA 2 200325005 200325006 deletion of <=200bp TG - intron_variant PACA-CA 2 200325005 200325006 deletion of <=200bp TG - upstream_gene_variant PACA-CA 2 200326770 200326770 single base substitution C T intron_variant PACA-CA 2 200326770 200326770 single base substitution C T upstream_gene_variant PACA-CA 2 200327180 200327180 single base substitution C T intron_variant PACA-CA 2 200327180 200327180 single base substitution C T upstream_gene_variant PACA-CA 2 200329156 200329156 single base substitution G A intron_variant PACA-CA 2 200329402 200329402 single base substitution G T intron_variant PACA-CA 2 200331423 200331423 single base substitution C G intron_variant PACA-CA 2 200331423 200331423 single base substitution C G upstream_gene_variant PACA-CA 2 200332691 200332691 single base substitution T A intron_variant PACA-CA 2 200332691 200332691 single base substitution T A upstream_gene_variant PACA-CA 2 200332796 200332796 insertion of <=200bp - C intron_variant PACA-CA 2 200332796 200332796 insertion of <=200bp - C upstream_gene_variant PACA-CA 2 200333104 200333104 single base substitution T G intron_variant PACA-CA 2 200333104 200333104 single base substitution T G upstream_gene_variant PACA-CA 2 200334935 200334935 single base substitution A C intron_variant PACA-CA 2 200334995 200334995 single base substitution G A intron_variant PACA-CA 2 200336147 200336147 single base substitution G C upstream_gene_variant PACA-CA 2 200338893 200338893 single base substitution T A upstream_gene_variant PACA-CA 2 200339598 200339598 single base substitution G A upstream_gene_variant PACA-CA 2 200340027 200340027 single base substitution G A upstream_gene_variant PAEN-AU 2 200130942 200130942 single base substitution C T downstream_gene_variant PAEN-AU 2 200137185 200137185 single base substitution G T missense_variant Q533K 1597C>A PAEN-AU 2 200137185 200137185 single base substitution G T missense_variant Q592K 1774C>A PAEN-AU 2 200137185 200137185 single base substitution G T missense_variant Q651K 1951C>A PAEN-AU 2 200156653 200156653 single base substitution A G intron_variant PAEN-AU 2 200172337 200172337 single base substitution C T downstream_gene_variant PAEN-AU 2 200172337 200172337 single base substitution C T intron_variant PAEN-AU 2 200172498 200172498 single base substitution C G downstream_gene_variant PAEN-AU 2 200172498 200172498 single base substitution C G intron_variant PAEN-AU 2 200217523 200217523 single base substitution G T intron_variant PAEN-AU 2 200258722 200258722 single base substitution C A downstream_gene_variant PAEN-AU 2 200258722 200258722 single base substitution C A intron_variant PAEN-AU 2 200304276 200304276 single base substitution T A intron_variant PAEN-AU 2 200326888 200326888 single base substitution G A intron_variant PAEN-AU 2 200326888 200326888 single base substitution G A upstream_gene_variant PAEN-AU 2 200340687 200340687 single base substitution G C upstream_gene_variant PAEN-IT 2 200146191 200146191 single base substitution T A intron_variant PAEN-IT 2 200148565 200148565 single base substitution G A intron_variant PAEN-IT 2 200193027 200193027 single base substitution A G intron_variant PAEN-IT 2 200207092 200207092 single base substitution C A downstream_gene_variant PAEN-IT 2 200207092 200207092 single base substitution C A intron_variant PAEN-IT 2 200264368 200264368 single base substitution G A intron_variant PAEN-IT 2 200283423 200283423 single base substitution G A intron_variant PAEN-IT 2 200285564 200285564 single base substitution T C intron_variant PAEN-IT 2 200316878 200316878 single base substitution T C downstream_gene_variant PAEN-IT 2 200316878 200316878 single base substitution T C intron_variant PBCA-DE 2 200135087 200135087 deletion of <=200bp T - 3_prime_UTR_variant PBCA-DE 2 200135087 200135087 deletion of <=200bp T - downstream_gene_variant PBCA-DE 2 200141161 200141161 single base substitution T A intron_variant PBCA-DE 2 200141467 200141467 single base substitution C G intron_variant PBCA-DE 2 200146730 200146730 insertion of <=200bp - T intron_variant PBCA-DE 2 200157037 200157037 single base substitution T C intron_variant PBCA-DE 2 200160027 200160027 single base substitution A G intron_variant PBCA-DE 2 200160099 200160099 single base substitution A G intron_variant PBCA-DE 2 200163984 200163984 single base substitution G C intron_variant PBCA-DE 2 200164003 200164003 single base substitution C T intron_variant PBCA-DE 2 200167875 200167875 single base substitution T A intron_variant PBCA-DE 2 200171825 200171825 deletion of <=200bp A - downstream_gene_variant PBCA-DE 2 200171825 200171825 deletion of <=200bp A - intron_variant PBCA-DE 2 200179022 200179022 single base substitution C A intron_variant PBCA-DE 2 200185809 200185809 single base substitution G A intron_variant PBCA-DE 2 200187000 200187000 single base substitution T C intron_variant PBCA-DE 2 200189374 200189374 single base substitution C T intron_variant PBCA-DE 2 200190338 200190338 single base substitution G A intron_variant PBCA-DE 2 200195362 200195362 single base substitution C T intron_variant PBCA-DE 2 200195362 200195362 single base substitution C T upstream_gene_variant PBCA-DE 2 200204121 200204121 single base substitution T A intron_variant PBCA-DE 2 200204768 200204768 single base substitution A T intron_variant PBCA-DE 2 200205650 200205650 single base substitution C T intron_variant PBCA-DE 2 200211095 200211096 deletion of <=200bp TC - downstream_gene_variant PBCA-DE 2 200211095 200211096 deletion of <=200bp TC - intron_variant PBCA-DE 2 200216717 200216717 single base substitution C T intron_variant PBCA-DE 2 200236639 200236639 single base substitution C T intron_variant PBCA-DE 2 200236639 200236639 single base substitution C T upstream_gene_variant PBCA-DE 2 200243400 200243401 deletion of <=200bp CA - intron_variant PBCA-DE 2 200245352 200245352 single base substitution G A intron_variant PBCA-DE 2 200253329 200253329 single base substitution G T intron_variant PBCA-DE 2 200291891 200291891 single base substitution G A intron_variant PBCA-DE 2 200291891 200291891 single base substitution G A upstream_gene_variant PBCA-DE 2 200296235 200296235 single base substitution T C intron_variant PBCA-DE 2 200298461 200298461 single base substitution G A intron_variant PBCA-DE 2 200301469 200301469 single base substitution A G intron_variant PBCA-DE 2 200305460 200305460 single base substitution G T intron_variant PBCA-DE 2 200310475 200310475 single base substitution C T intron_variant PBCA-DE 2 200313131 200313131 insertion of <=200bp - A intron_variant PBCA-DE 2 200316352 200316352 single base substitution A G downstream_gene_variant PBCA-DE 2 200316352 200316352 single base substitution A G intron_variant PBCA-DE 2 200319657 200319657 single base substitution A G downstream_gene_variant PBCA-DE 2 200319657 200319657 single base substitution A G intron_variant PBCA-DE 2 200319921 200319921 single base substitution A T downstream_gene_variant PBCA-DE 2 200319921 200319921 single base substitution A T intron_variant PBCA-DE 2 200319944 200319944 single base substitution A G downstream_gene_variant PBCA-DE 2 200319944 200319944 single base substitution A G intron_variant PBCA-DE 2 200323751 200323751 single base substitution G A intron_variant PBCA-DE 2 200323751 200323751 single base substitution G A upstream_gene_variant PBCA-DE 2 200325260 200325260 insertion of <=200bp - A splice_region_variant PBCA-DE 2 200325260 200325260 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 200329157 200329158 deletion of <=200bp CA - intron_variant PBCA-DE 2 200338963 200338963 single base substitution G T upstream_gene_variant PRAD-CA 2 200129845 200129845 single base substitution G A downstream_gene_variant PRAD-CA 2 200164097 200164097 single base substitution T C intron_variant PRAD-CA 2 200169071 200169071 single base substitution T C downstream_gene_variant PRAD-CA 2 200169071 200169071 single base substitution T C intron_variant PRAD-CA 2 200173876 200173876 single base substitution T A intron_variant PRAD-CA 2 200178777 200178777 single base substitution T G intron_variant PRAD-CA 2 200218660 200218660 single base substitution T G intron_variant PRAD-CA 2 200224815 200224815 single base substitution T C intron_variant PRAD-CA 2 200229588 200229588 single base substitution G A downstream_gene_variant PRAD-CA 2 200229588 200229588 single base substitution G A intron_variant PRAD-CA 2 200258294 200258294 single base substitution C G downstream_gene_variant PRAD-CA 2 200258294 200258294 single base substitution C G intron_variant PRAD-CA 2 200302630 200302630 single base substitution T C intron_variant PRAD-CA 2 200309634 200309634 single base substitution A G intron_variant PRAD-CA 2 200309789 200309789 single base substitution C A intron_variant PRAD-CA 2 200325996 200325996 single base substitution C T intron_variant PRAD-CA 2 200325996 200325996 single base substitution C T upstream_gene_variant PRAD-CA 2 200328658 200328658 single base substitution C A intron_variant PRAD-CA 2 200329582 200329582 single base substitution G A 5_prime_UTR_variant PRAD-CA 2 200329582 200329582 single base substitution G A intron_variant PRAD-CA 2 200330879 200330879 single base substitution T G intron_variant PRAD-CA 2 200330879 200330879 single base substitution T G upstream_gene_variant PRAD-CA 2 200332795 200332795 single base substitution C T intron_variant PRAD-CA 2 200332795 200332795 single base substitution C T upstream_gene_variant PRAD-UK 2 200143590 200143604 deletion of <=200bp TGATATTAAAAACAG - intron_variant PRAD-UK 2 200155007 200155007 single base substitution C T intron_variant PRAD-UK 2 200158171 200158171 deletion of <=200bp A - intron_variant PRAD-UK 2 200158795 200158795 single base substitution C T intron_variant PRAD-UK 2 200165370 200165370 single base substitution A T intron_variant PRAD-UK 2 200167596 200167596 single base substitution C A intron_variant PRAD-UK 2 200172199 200172199 single base substitution C T downstream_gene_variant PRAD-UK 2 200172199 200172199 single base substitution C T intron_variant PRAD-UK 2 200173379 200173379 single base substitution C T downstream_gene_variant PRAD-UK 2 200173379 200173379 single base substitution C T intron_variant PRAD-UK 2 200182058 200182058 single base substitution T G intron_variant PRAD-UK 2 200195304 200195304 single base substitution T C intron_variant PRAD-UK 2 200195304 200195304 single base substitution T C upstream_gene_variant PRAD-UK 2 200206776 200206776 single base substitution G T downstream_gene_variant PRAD-UK 2 200206776 200206776 single base substitution G T intron_variant PRAD-UK 2 200207430 200207430 single base substitution A G downstream_gene_variant PRAD-UK 2 200207430 200207430 single base substitution A G intron_variant PRAD-UK 2 200214487 200214487 single base substitution T C intron_variant PRAD-UK 2 200219565 200219565 single base substitution C G intron_variant PRAD-UK 2 200227942 200227942 deletion of <=200bp C - intron_variant PRAD-UK 2 200228275 200228275 insertion of <=200bp - T intron_variant PRAD-UK 2 200228283 200228283 insertion of <=200bp - T intron_variant PRAD-UK 2 200257416 200257416 single base substitution T A downstream_gene_variant PRAD-UK 2 200257416 200257416 single base substitution T A intron_variant PRAD-UK 2 200267942 200267942 single base substitution T A intron_variant PRAD-UK 2 200272760 200272760 single base substitution G C intron_variant PRAD-UK 2 200274383 200274383 insertion of <=200bp - GT intron_variant PRAD-UK 2 200274402 200274402 insertion of <=200bp - T intron_variant PRAD-UK 2 200275909 200275909 single base substitution C T intron_variant PRAD-UK 2 200276228 200276228 single base substitution G A intron_variant PRAD-UK 2 200296930 200296930 single base substitution C A intron_variant PRAD-UK 2 200298281 200298281 single base substitution C G intron_variant PRAD-UK 2 200301652 200301652 single base substitution G A intron_variant PRAD-UK 2 200302528 200302528 deletion of <=200bp T - intron_variant PRAD-UK 2 200316784 200316798 deletion of <=200bp ATTTTCAATGTTTAA - downstream_gene_variant PRAD-UK 2 200316784 200316798 deletion of <=200bp ATTTTCAATGTTTAA - intron_variant PRAD-UK 2 200335052 200335052 single base substitution G T intron_variant PRAD-UK 2 200335099 200335099 single base substitution G A intron_variant PRAD-UK 2 200335278 200335278 single base substitution T G intron_variant PRAD-UK 2 200338454 200338454 deletion of <=200bp A - upstream_gene_variant PRAD-UK 2 200338997 200338997 single base substitution G A upstream_gene_variant PRAD-UK 2 200340684 200340684 single base substitution G A upstream_gene_variant READ-US 2 200188664 200188664 single base substitution C T exon_variant READ-US 2 200188664 200188664 single base substitution C T synonymous_variant P350P 1050G>A READ-US 2 200188664 200188664 single base substitution C T synonymous_variant P409P 1227G>A READ-US 2 200188664 200188664 single base substitution C T synonymous_variant P468P 1404G>A READ-US 2 200213792 200213792 single base substitution C T exon_variant READ-US 2 200213792 200213792 single base substitution C T missense_variant E151K 451G>A READ-US 2 200213792 200213792 single base substitution C T missense_variant E210K 628G>A READ-US 2 200213792 200213792 single base substitution C T missense_variant E269K 805G>A READ-US 2 200298163 200298163 single base substitution C T exon_variant READ-US 2 200298163 200298163 single base substitution C T intron_variant READ-US 2 200298163 200298163 single base substitution C T missense_variant A82T 244G>A RECA-EU 2 200138741 200138741 single base substitution G A intron_variant RECA-EU 2 200139078 200139078 single base substitution T A intron_variant RECA-EU 2 200139080 200139080 single base substitution T A intron_variant RECA-EU 2 200155585 200155585 single base substitution T G intron_variant RECA-EU 2 200155587 200155587 single base substitution G A intron_variant RECA-EU 2 200158460 200158460 single base substitution C G intron_variant RECA-EU 2 200170466 200170466 single base substitution T A downstream_gene_variant RECA-EU 2 200170466 200170466 single base substitution T A intron_variant RECA-EU 2 200186458 200186458 single base substitution C A intron_variant RECA-EU 2 200186503 200186503 single base substitution A C intron_variant RECA-EU 2 200188231 200188231 single base substitution C T intron_variant RECA-EU 2 200189883 200189883 single base substitution T G intron_variant RECA-EU 2 200195166 200195166 single base substitution A T intron_variant RECA-EU 2 200195166 200195166 single base substitution A T upstream_gene_variant RECA-EU 2 200202471 200202471 single base substitution A T intron_variant RECA-EU 2 200208178 200208178 single base substitution G A downstream_gene_variant RECA-EU 2 200208178 200208178 single base substitution G A intron_variant RECA-EU 2 200215424 200215424 single base substitution T G intron_variant RECA-EU 2 200215425 200215425 single base substitution G T intron_variant RECA-EU 2 200226908 200226908 single base substitution C T intron_variant RECA-EU 2 200231504 200231504 single base substitution C T downstream_gene_variant RECA-EU 2 200231504 200231504 single base substitution C T intron_variant RECA-EU 2 200242219 200242219 single base substitution A C intron_variant RECA-EU 2 200244410 200244410 single base substitution T C intron_variant RECA-EU 2 200262884 200262884 single base substitution C T intron_variant RECA-EU 2 200283758 200283758 single base substitution C A intron_variant RECA-EU 2 200296943 200296943 single base substitution G C intron_variant RECA-EU 2 200298415 200298415 single base substitution T C intron_variant RECA-EU 2 200302130 200302130 single base substitution C A intron_variant RECA-EU 2 200309877 200309877 single base substitution C T intron_variant RECA-EU 2 200316358 200316358 single base substitution G A downstream_gene_variant RECA-EU 2 200316358 200316358 single base substitution G A intron_variant RECA-EU 2 200335898 200335898 single base substitution T C 5_prime_UTR_variant SKCA-BR 2 200129909 200129909 single base substitution G A downstream_gene_variant SKCA-BR 2 200130136 200130136 single base substitution C T downstream_gene_variant SKCA-BR 2 200130350 200130350 single base substitution G A downstream_gene_variant SKCA-BR 2 200130917 200130917 single base substitution C T downstream_gene_variant SKCA-BR 2 200133011 200133011 single base substitution G A downstream_gene_variant SKCA-BR 2 200133174 200133174 single base substitution A T downstream_gene_variant SKCA-BR 2 200136724 200136724 single base substitution A T 3_prime_UTR_variant SKCA-BR 2 200136724 200136724 single base substitution A T downstream_gene_variant SKCA-BR 2 200139565 200139565 single base substitution T G intron_variant SKCA-BR 2 200145105 200145105 single base substitution G A intron_variant SKCA-BR 2 200145798 200145798 single base substitution G A intron_variant SKCA-BR 2 200147460 200147460 single base substitution C T intron_variant SKCA-BR 2 200148720 200148720 single base substitution G A intron_variant SKCA-BR 2 200149081 200149081 single base substitution C T intron_variant SKCA-BR 2 200149332 200149332 single base substitution G A intron_variant SKCA-BR 2 200150436 200150436 single base substitution G A intron_variant SKCA-BR 2 200157419 200157419 single base substitution G A intron_variant SKCA-BR 2 200158170 200158170 single base substitution G A intron_variant SKCA-BR 2 200160454 200160454 single base substitution G A intron_variant SKCA-BR 2 200161431 200161431 single base substitution T A intron_variant SKCA-BR 2 200165507 200165507 single base substitution G A intron_variant SKCA-BR 2 200166437 200166437 single base substitution G A intron_variant SKCA-BR 2 200169873 200169873 single base substitution C T downstream_gene_variant SKCA-BR 2 200169873 200169873 single base substitution C T intron_variant SKCA-BR 2 200170101 200170101 single base substitution C T downstream_gene_variant SKCA-BR 2 200170101 200170101 single base substitution C T intron_variant SKCA-BR 2 200170300 200170300 single base substitution C A downstream_gene_variant SKCA-BR 2 200170300 200170300 single base substitution C A intron_variant SKCA-BR 2 200173272 200173272 single base substitution T C downstream_gene_variant SKCA-BR 2 200173272 200173272 single base substitution T C intron_variant SKCA-BR 2 200174263 200174263 single base substitution T C intron_variant SKCA-BR 2 200174270 200174270 single base substitution A C intron_variant SKCA-BR 2 200175886 200175886 single base substitution G A intron_variant SKCA-BR 2 200178906 200178906 single base substitution G A intron_variant SKCA-BR 2 200182456 200182456 single base substitution G A intron_variant SKCA-BR 2 200185470 200185470 single base substitution C T intron_variant SKCA-BR 2 200187473 200187473 single base substitution G A intron_variant SKCA-BR 2 200188197 200188197 insertion of <=200bp - CAT intron_variant SKCA-BR 2 200192163 200192163 single base substitution C T intron_variant SKCA-BR 2 200192257 200192257 single base substitution G A intron_variant SKCA-BR 2 200192513 200192513 single base substitution G A intron_variant SKCA-BR 2 200193480 200193480 single base substitution G A exon_variant SKCA-BR 2 200193480 200193480 single base substitution G A missense_variant P325S 973C>T SKCA-BR 2 200193480 200193480 single base substitution G A missense_variant P384S 1150C>T SKCA-BR 2 200193480 200193480 single base substitution G A missense_variant P443S 1327C>T SKCA-BR 2 200194168 200194169 deletion of <=200bp AG - intron_variant SKCA-BR 2 200194168 200194169 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 2 200195842 200195842 single base substitution A T intron_variant SKCA-BR 2 200195842 200195842 single base substitution A T upstream_gene_variant SKCA-BR 2 200196300 200196300 single base substitution T A intron_variant SKCA-BR 2 200196300 200196300 single base substitution T A upstream_gene_variant SKCA-BR 2 200197103 200197103 single base substitution G A intron_variant SKCA-BR 2 200197103 200197103 single base substitution G A upstream_gene_variant SKCA-BR 2 200197781 200197781 single base substitution G A intron_variant SKCA-BR 2 200197781 200197781 single base substitution G A upstream_gene_variant SKCA-BR 2 200198124 200198124 single base substitution G A intron_variant SKCA-BR 2 200198124 200198124 single base substitution G A upstream_gene_variant SKCA-BR 2 200201943 200201943 single base substitution G A intron_variant SKCA-BR 2 200203016 200203016 single base substitution G A intron_variant SKCA-BR 2 200203640 200203640 insertion of <=200bp - TA intron_variant SKCA-BR 2 200205585 200205585 single base substitution G A intron_variant SKCA-BR 2 200206898 200206898 single base substitution G A downstream_gene_variant SKCA-BR 2 200206898 200206898 single base substitution G A intron_variant SKCA-BR 2 200207426 200207426 single base substitution A G downstream_gene_variant SKCA-BR 2 200207426 200207426 single base substitution A G intron_variant SKCA-BR 2 200207889 200207889 single base substitution G A downstream_gene_variant SKCA-BR 2 200207889 200207889 single base substitution G A intron_variant SKCA-BR 2 200209703 200209703 single base substitution T A downstream_gene_variant SKCA-BR 2 200209703 200209703 single base substitution T A intron_variant SKCA-BR 2 200210153 200210153 single base substitution A C downstream_gene_variant SKCA-BR 2 200210153 200210153 single base substitution A C intron_variant SKCA-BR 2 200213312 200213312 single base substitution A T exon_variant SKCA-BR 2 200213312 200213312 single base substitution A T intron_variant SKCA-BR 2 200213348 200213348 single base substitution G A exon_variant SKCA-BR 2 200213348 200213348 single base substitution G A intron_variant SKCA-BR 2 200213699 200213699 single base substitution G A exon_variant SKCA-BR 2 200213699 200213699 single base substitution G A missense_variant P182S 544C>T SKCA-BR 2 200213699 200213699 single base substitution G A missense_variant P241S 721C>T SKCA-BR 2 200213699 200213699 single base substitution G A missense_variant P300S 898C>T SKCA-BR 2 200213783 200213783 single base substitution G A exon_variant SKCA-BR 2 200213783 200213783 single base substitution G A missense_variant P154S 460C>T SKCA-BR 2 200213783 200213783 single base substitution G A missense_variant P213S 637C>T SKCA-BR 2 200213783 200213783 single base substitution G A missense_variant P272S 814C>T SKCA-BR 2 200218974 200218974 single base substitution G A intron_variant SKCA-BR 2 200219203 200219203 single base substitution G A intron_variant SKCA-BR 2 200219822 200219822 single base substitution T A intron_variant SKCA-BR 2 200220085 200220085 single base substitution A C intron_variant SKCA-BR 2 200224546 200224546 single base substitution A C intron_variant SKCA-BR 2 200224827 200224827 single base substitution G A intron_variant SKCA-BR 2 200225675 200225675 single base substitution A C intron_variant SKCA-BR 2 200227754 200227754 single base substitution T A intron_variant SKCA-BR 2 200230487 200230487 single base substitution G A downstream_gene_variant SKCA-BR 2 200230487 200230487 single base substitution G A intron_variant SKCA-BR 2 200230838 200230838 single base substitution G A downstream_gene_variant SKCA-BR 2 200230838 200230838 single base substitution G A intron_variant SKCA-BR 2 200231535 200231536 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 2 200231535 200231536 deletion of <=200bp TA - intron_variant SKCA-BR 2 200231630 200231646 deletion of <=200bp CACACACACACACACAA - downstream_gene_variant SKCA-BR 2 200231630 200231646 deletion of <=200bp CACACACACACACACAA - intron_variant SKCA-BR 2 200232382 200232382 single base substitution G A downstream_gene_variant SKCA-BR 2 200232382 200232382 single base substitution G A intron_variant SKCA-BR 2 200236594 200236594 single base substitution G A intron_variant SKCA-BR 2 200236594 200236594 single base substitution G A upstream_gene_variant SKCA-BR 2 200240352 200240352 single base substitution C T intron_variant SKCA-BR 2 200242263 200242263 single base substitution G A intron_variant SKCA-BR 2 200242756 200242756 single base substitution G A intron_variant SKCA-BR 2 200242803 200242803 single base substitution G A intron_variant SKCA-BR 2 200244152 200244152 single base substitution G A intron_variant SKCA-BR 2 200247410 200247410 single base substitution T A intron_variant SKCA-BR 2 200249956 200249956 single base substitution C T intron_variant SKCA-BR 2 200250871 200250871 single base substitution C T intron_variant SKCA-BR 2 200250888 200250888 single base substitution C T intron_variant SKCA-BR 2 200251089 200251089 single base substitution C T intron_variant SKCA-BR 2 200254506 200254506 single base substitution A G intron_variant SKCA-BR 2 200254811 200254811 insertion of <=200bp - GA intron_variant SKCA-BR 2 200256135 200256135 single base substitution G A downstream_gene_variant SKCA-BR 2 200256135 200256135 single base substitution G A intron_variant SKCA-BR 2 200264598 200264598 single base substitution C T intron_variant SKCA-BR 2 200268856 200268856 single base substitution G A intron_variant SKCA-BR 2 200272832 200272832 single base substitution C T intron_variant SKCA-BR 2 200276264 200276264 single base substitution T A intron_variant SKCA-BR 2 200276289 200276289 single base substitution G A intron_variant SKCA-BR 2 200276764 200276764 single base substitution G A intron_variant SKCA-BR 2 200276766 200276766 single base substitution A T intron_variant SKCA-BR 2 200280906 200280906 single base substitution G A intron_variant SKCA-BR 2 200281518 200281518 single base substitution G A intron_variant SKCA-BR 2 200281519 200281519 single base substitution G A intron_variant SKCA-BR 2 200284948 200284948 single base substitution G A intron_variant SKCA-BR 2 200285196 200285196 single base substitution G A intron_variant SKCA-BR 2 200285776 200285776 single base substitution G A intron_variant SKCA-BR 2 200286970 200286970 single base substitution C T intron_variant SKCA-BR 2 200291415 200291422 deletion of <=200bp CAAAAAAA - intron_variant SKCA-BR 2 200291415 200291422 deletion of <=200bp CAAAAAAA - upstream_gene_variant SKCA-BR 2 200292935 200292935 single base substitution G A intron_variant SKCA-BR 2 200292935 200292935 single base substitution G A upstream_gene_variant SKCA-BR 2 200297674 200297674 single base substitution A C intron_variant SKCA-BR 2 200298737 200298737 single base substitution C T intron_variant SKCA-BR 2 200301868 200301868 single base substitution G A intron_variant SKCA-BR 2 200302358 200302358 single base substitution C T intron_variant SKCA-BR 2 200303296 200303296 single base substitution G A intron_variant SKCA-BR 2 200306576 200306576 single base substitution G A intron_variant SKCA-BR 2 200307744 200307744 insertion of <=200bp - AT intron_variant SKCA-BR 2 200308262 200308262 insertion of <=200bp - CA intron_variant SKCA-BR 2 200310898 200310898 single base substitution G C intron_variant SKCA-BR 2 200315814 200315816 deletion of <=200bp AAC - downstream_gene_variant SKCA-BR 2 200315814 200315816 deletion of <=200bp AAC - intron_variant SKCA-BR 2 200316861 200316861 single base substitution G A downstream_gene_variant SKCA-BR 2 200316861 200316861 single base substitution G A intron_variant SKCA-BR 2 200318887 200318887 single base substitution T C downstream_gene_variant SKCA-BR 2 200318887 200318887 single base substitution T C intron_variant SKCA-BR 2 200320832 200320832 single base substitution T G intron_variant SKCA-BR 2 200320832 200320832 single base substitution T G upstream_gene_variant SKCA-BR 2 200322610 200322610 single base substitution A C 5_prime_UTR_variant SKCA-BR 2 200322610 200322610 single base substitution A C intron_variant SKCA-BR 2 200322610 200322610 single base substitution A C upstream_gene_variant SKCA-BR 2 200324500 200324500 single base substitution T C intron_variant SKCA-BR 2 200324500 200324500 single base substitution T C upstream_gene_variant SKCA-BR 2 200326878 200326878 single base substitution G A intron_variant SKCA-BR 2 200326878 200326878 single base substitution G A upstream_gene_variant SKCA-BR 2 200334260 200334260 single base substitution T G intron_variant SKCA-BR 2 200334260 200334260 single base substitution T G upstream_gene_variant SKCA-BR 2 200334986 200334986 single base substitution C T intron_variant SKCA-BR 2 200335170 200335170 single base substitution G C intron_variant SKCA-BR 2 200336413 200336413 single base substitution G A upstream_gene_variant SKCA-BR 2 200336414 200336414 single base substitution G A upstream_gene_variant SKCA-BR 2 200338039 200338039 single base substitution A C upstream_gene_variant SKCM-US 2 200136952 200136952 single base substitution G A synonymous_variant A610A 1830C>T SKCM-US 2 200136952 200136952 single base substitution G A synonymous_variant A669A 2007C>T SKCM-US 2 200136952 200136952 single base substitution G A synonymous_variant A728A 2184C>T SKCM-US 2 200137014 200137014 single base substitution C T missense_variant E590K 1768G>A SKCM-US 2 200137014 200137014 single base substitution C T missense_variant E649K 1945G>A SKCM-US 2 200137014 200137014 single base substitution C T missense_variant E708K 2122G>A SKCM-US 2 200137016 200137016 single base substitution G A missense_variant S589F 1766C>T SKCM-US 2 200137016 200137016 single base substitution G A missense_variant S648F 1943C>T SKCM-US 2 200137016 200137016 single base substitution G A missense_variant S707F 2120C>T SKCM-US 2 200137114 200137114 single base substitution C T synonymous_variant G556G 1668G>A SKCM-US 2 200137114 200137114 single base substitution C T synonymous_variant G615G 1845G>A SKCM-US 2 200137114 200137114 single base substitution C T synonymous_variant G674G 2022G>A SKCM-US 2 200137150 200137150 single base substitution G A synonymous_variant F544F 1632C>T SKCM-US 2 200137150 200137150 single base substitution G A synonymous_variant F603F 1809C>T SKCM-US 2 200137150 200137150 single base substitution G A synonymous_variant F662F 1986C>T SKCM-US 2 200137218 200137218 single base substitution G A missense_variant P522S 1564C>T SKCM-US 2 200137218 200137218 single base substitution G A missense_variant P581S 1741C>T SKCM-US 2 200137218 200137218 single base substitution G A missense_variant P640S 1918C>T SKCM-US 2 200137332 200137332 single base substitution G A missense_variant P484S 1450C>T SKCM-US 2 200137332 200137332 single base substitution G A missense_variant P543S 1627C>T SKCM-US 2 200137332 200137332 single base substitution G A missense_variant P602S 1804C>T SKCM-US 2 200137354 200137354 single base substitution G A synonymous_variant S476S 1428C>T SKCM-US 2 200137354 200137354 single base substitution G A synonymous_variant S535S 1605C>T SKCM-US 2 200137354 200137354 single base substitution G A synonymous_variant S594S 1782C>T SKCM-US 2 200188594 200188594 single base substitution G C exon_variant SKCM-US 2 200188594 200188594 single base substitution G C missense_variant Q374E 1120C>G SKCM-US 2 200188594 200188594 single base substitution G C missense_variant Q433E 1297C>G SKCM-US 2 200188594 200188594 single base substitution G C missense_variant Q492E 1474C>G SKCM-US 2 200188671 200188671 single base substitution G A exon_variant SKCM-US 2 200188671 200188671 single base substitution G A missense_variant S348L 1043C>T SKCM-US 2 200188671 200188671 single base substitution G A missense_variant S407L 1220C>T SKCM-US 2 200188671 200188671 single base substitution G A missense_variant S466L 1397C>T SKCM-US 2 200193516 200193516 single base substitution G A exon_variant SKCM-US 2 200193516 200193516 single base substitution G A missense_variant R313C 937C>T SKCM-US 2 200193516 200193516 single base substitution G A missense_variant R372C 1114C>T SKCM-US 2 200193516 200193516 single base substitution G A missense_variant R431C 1291C>T SKCM-US 2 200193547 200193547 single base substitution A T exon_variant SKCM-US 2 200193547 200193547 single base substitution A T missense_variant N302K 906T>A SKCM-US 2 200193547 200193547 single base substitution A T missense_variant N361K 1083T>A SKCM-US 2 200193547 200193547 single base substitution A T missense_variant N420K 1260T>A SKCM-US 2 200213545 200213545 single base substitution G A exon_variant SKCM-US 2 200213545 200213545 single base substitution G A missense_variant P233L 698C>T SKCM-US 2 200213545 200213545 single base substitution G A missense_variant P292L 875C>T SKCM-US 2 200213545 200213545 single base substitution G A missense_variant P351L 1052C>T SKCM-US 2 200213592 200213592 single base substitution G A exon_variant SKCM-US 2 200213592 200213592 single base substitution G A synonymous_variant I217I 651C>T SKCM-US 2 200213592 200213592 single base substitution G A synonymous_variant I276I 828C>T SKCM-US 2 200213592 200213592 single base substitution G A synonymous_variant I335I 1005C>T SKCM-US 2 200213619 200213619 single base substitution G A exon_variant SKCM-US 2 200213619 200213619 single base substitution G A synonymous_variant L208L 624C>T SKCM-US 2 200213619 200213619 single base substitution G A synonymous_variant L267L 801C>T SKCM-US 2 200213619 200213619 single base substitution G A synonymous_variant L326L 978C>T SKCM-US 2 200213622 200213622 single base substitution C T exon_variant SKCM-US 2 200213622 200213622 single base substitution C T synonymous_variant R207R 621G>A SKCM-US 2 200213622 200213622 single base substitution C T synonymous_variant R266R 798G>A SKCM-US 2 200213622 200213622 single base substitution C T synonymous_variant R325R 975G>A SKCM-US 2 200213697 200213697 single base substitution G A exon_variant SKCM-US 2 200213697 200213697 single base substitution G A synonymous_variant P182P 546C>T SKCM-US 2 200213697 200213697 single base substitution G A synonymous_variant P241P 723C>T SKCM-US 2 200213697 200213697 single base substitution G A synonymous_variant P300P 900C>T SKCM-US 2 200213782 200213782 single base substitution G A exon_variant SKCM-US 2 200213782 200213782 single base substitution G A missense_variant P154L 461C>T SKCM-US 2 200213782 200213782 single base substitution G A missense_variant P213L 638C>T SKCM-US 2 200213782 200213782 single base substitution G A missense_variant P272L 815C>T SKCM-US 2 200213792 200213792 single base substitution C T exon_variant SKCM-US 2 200213792 200213792 single base substitution C T missense_variant E151K 451G>A SKCM-US 2 200213792 200213792 single base substitution C T missense_variant E210K 628G>A SKCM-US 2 200213792 200213792 single base substitution C T missense_variant E269K 805G>A SKCM-US 2 200233369 200233369 single base substitution T G exon_variant SKCM-US 2 200233369 200233369 single base substitution T G intron_variant SKCM-US 2 200233369 200233369 single base substitution T G missense_variant Q161P 482A>C SKCM-US 2 200233369 200233369 single base substitution T G missense_variant Q220P 659A>C STAD-US 2 200137060 200137060 single base substitution C A missense_variant E574D 1722G>T STAD-US 2 200137060 200137060 single base substitution C A missense_variant E633D 1899G>T STAD-US 2 200137060 200137060 single base substitution C A missense_variant E692D 2076G>T STAD-US 2 200137088 200137088 single base substitution G A missense_variant A565V 1694C>T STAD-US 2 200137088 200137088 single base substitution G A missense_variant A624V 1871C>T STAD-US 2 200137088 200137088 single base substitution G A missense_variant A683V 2048C>T STAD-US 2 200137257 200137257 single base substitution C A missense_variant G509W 1525G>T STAD-US 2 200137257 200137257 single base substitution C A missense_variant G568W 1702G>T STAD-US 2 200137257 200137257 single base substitution C A missense_variant G627W 1879G>T STAD-US 2 200173523 200173523 single base substitution C T downstream_gene_variant STAD-US 2 200173523 200173523 single base substitution C T missense_variant R449H 1346G>A STAD-US 2 200173523 200173523 single base substitution C T missense_variant R508H 1523G>A STAD-US 2 200173523 200173523 single base substitution C T missense_variant R567H 1700G>A STAD-US 2 200213631 200213631 single base substitution G A exon_variant STAD-US 2 200213631 200213631 single base substitution G A synonymous_variant A204A 612C>T STAD-US 2 200213631 200213631 single base substitution G A synonymous_variant A263A 789C>T STAD-US 2 200213631 200213631 single base substitution G A synonymous_variant A322A 966C>T STAD-US 2 200245100 200245100 single base substitution C T exon_variant STAD-US 2 200245100 200245100 single base substitution C T intron_variant STAD-US 2 200245100 200245100 single base substitution C T missense_variant C136Y 407G>A STAD-US 2 200245100 200245100 single base substitution C T missense_variant C195Y 584G>A STAD-US 2 200246470 200246470 single base substitution G A exon_variant STAD-US 2 200246470 200246470 single base substitution G A intron_variant STAD-US 2 200246470 200246470 single base substitution G A synonymous_variant A140A 420C>T STAD-US 2 200246470 200246470 single base substitution G A synonymous_variant A81A 243C>T STAD-US 2 200246496 200246496 single base substitution T G exon_variant STAD-US 2 200246496 200246496 single base substitution T G intron_variant STAD-US 2 200246496 200246496 single base substitution T G missense_variant T132P 394A>C STAD-US 2 200246496 200246496 single base substitution T G missense_variant T73P 217A>C STAD-US 2 200298074 200298074 single base substitution C T exon_variant STAD-US 2 200298074 200298074 single base substitution C T intron_variant STAD-US 2 200298074 200298074 single base substitution C T synonymous_variant A111A 333G>A STAD-US 2 200298107 200298107 single base substitution C T exon_variant STAD-US 2 200298107 200298107 single base substitution C T intron_variant STAD-US 2 200298107 200298107 single base substitution C T synonymous_variant A100A 300G>A UCEC-US 2 200136951 200136951 single base substitution C T missense_variant E611K 1831G>A UCEC-US 2 200136951 200136951 single base substitution C T missense_variant E670K 2008G>A UCEC-US 2 200136951 200136951 single base substitution C T missense_variant E729K 2185G>A UCEC-US 2 200136961 200136961 single base substitution T G synonymous_variant A607A 1821A>C UCEC-US 2 200136961 200136961 single base substitution T G synonymous_variant A666A 1998A>C UCEC-US 2 200136961 200136961 single base substitution T G synonymous_variant A725A 2175A>C UCEC-US 2 200136978 200136978 single base substitution C T missense_variant A602T 1804G>A UCEC-US 2 200136978 200136978 single base substitution C T missense_variant A661T 1981G>A UCEC-US 2 200136978 200136978 single base substitution C T missense_variant A720T 2158G>A UCEC-US 2 200136985 200136985 single base substitution C T synonymous_variant E599E 1797G>A UCEC-US 2 200136985 200136985 single base substitution C T synonymous_variant E658E 1974G>A UCEC-US 2 200136985 200136985 single base substitution C T synonymous_variant E717E 2151G>A UCEC-US 2 200137190 200137190 single base substitution G A missense_variant S531L 1592C>T UCEC-US 2 200137190 200137190 single base substitution G A missense_variant S590L 1769C>T UCEC-US 2 200137190 200137190 single base substitution G A missense_variant S649L 1946C>T UCEC-US 2 200137387 200137387 single base substitution A G synonymous_variant H465H 1395T>C UCEC-US 2 200137387 200137387 single base substitution A G synonymous_variant H524H 1572T>C UCEC-US 2 200137387 200137387 single base substitution A G synonymous_variant H583H 1749T>C UCEC-US 2 200173513 200173513 single base substitution G A downstream_gene_variant UCEC-US 2 200173513 200173513 single base substitution G A synonymous_variant H452H 1356C>T UCEC-US 2 200173513 200173513 single base substitution G A synonymous_variant H511H 1533C>T UCEC-US 2 200173513 200173513 single base substitution G A synonymous_variant H570H 1710C>T UCEC-US 2 200173524 200173524 single base substitution G A downstream_gene_variant UCEC-US 2 200173524 200173524 single base substitution G A missense_variant R449C 1345C>T UCEC-US 2 200173524 200173524 single base substitution G A missense_variant R508C 1522C>T UCEC-US 2 200173524 200173524 single base substitution G A missense_variant R567C 1699C>T UCEC-US 2 200173629 200173629 single base substitution G A exon_variant UCEC-US 2 200173629 200173629 single base substitution G A missense_variant R414C 1240C>T UCEC-US 2 200173629 200173629 single base substitution G A missense_variant R473C 1417C>T UCEC-US 2 200173629 200173629 single base substitution G A missense_variant R532C 1594C>T UCEC-US 2 200193611 200193611 single base substitution C T exon_variant UCEC-US 2 200193611 200193611 single base substitution C T missense_variant R281H 842G>A UCEC-US 2 200193611 200193611 single base substitution C T missense_variant R340H 1019G>A UCEC-US 2 200193611 200193611 single base substitution C T missense_variant R399H 1196G>A UCEC-US 2 200213541 200213541 single base substitution C A exon_variant UCEC-US 2 200213541 200213541 single base substitution C A missense_variant E234D 702G>T UCEC-US 2 200213541 200213541 single base substitution C A missense_variant E293D 879G>T UCEC-US 2 200213541 200213541 single base substitution C A missense_variant E352D 1056G>T UCEC-US 2 200213657 200213657 single base substitution C T exon_variant UCEC-US 2 200213657 200213657 single base substitution C T missense_variant A196T 586G>A UCEC-US 2 200213657 200213657 single base substitution C T missense_variant A255T 763G>A UCEC-US 2 200213657 200213657 single base substitution C T missense_variant A314T 940G>A UCEC-US 2 200213813 200213813 single base substitution C T exon_variant UCEC-US 2 200213813 200213813 single base substitution C T missense_variant A144T 430G>A UCEC-US 2 200213813 200213813 single base substitution C T missense_variant A203T 607G>A UCEC-US 2 200213813 200213813 single base substitution C T missense_variant A262T 784G>A UCEC-US 2 200233326 200233326 single base substitution A G downstream_gene_variant UCEC-US 2 200233326 200233326 single base substitution A G intron_variant UCEC-US 2 200233326 200233326 single base substitution A G splice_donor_variant UCEC-US 2 200233425 200233425 single base substitution C A exon_variant UCEC-US 2 200233425 200233425 single base substitution C A intron_variant UCEC-US 2 200233425 200233425 single base substitution C A missense_variant M142I 426G>T UCEC-US 2 200233425 200233425 single base substitution C A missense_variant M201I 603G>T UCEC-US 2 200245104 200245104 single base substitution C A exon_variant UCEC-US 2 200245104 200245104 single base substitution C A intron_variant UCEC-US 2 200245104 200245104 single base substitution C A stop_gained E135* 403G>T UCEC-US 2 200245104 200245104 single base substitution C A stop_gained E194* 580G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-FH5PJ COSM394492 c.1901A>G p.H634R Substitution - Missense 2:199272512-199272512 - TCGA-BR-8487-01 COSM4090037 c.2048C>T p.A683V Substitution - Missense 2:199272365-199272365 - TCGA-AP-A056-01 COSM1014605 c.1946C>T p.S649L Substitution - Missense 2:199272467-199272467 - LUAD-NYU259 COSM391950 c.1458delC p.I487fs*9 Deletion - Frameshift 2:199323887-199323887 - Pat_40_B COSM5861453 c.1038delC p.R347fs*26 Deletion - Frameshift 2:199348836-199348836 - TCGA-E2-A155-01 COSM442083 c.1853G>A p.R618H Substitution - Missense 2:199272560-199272560 - S00932 COSM314992 c.745G>T p.G249C Substitution - Missense 2:199349129-199349129 - ESCC-112T COSM3938862 c.1270C>A p.L424M Substitution - Missense 2:199328814-199328814 - Patient_2 COSM5414301 c.1413C>T p.D471D Substitution - coding silent 2:199323932-199323932 - HCT15 COSM1669647 c.1027C>A p.P343T Substitution - Missense 2:199348847-199348847 - TCGA-EE-A29M-06 COSM3576133 c.2122G>A p.E708K Substitution - Missense 2:199272291-199272291 - PT21_2 COSM5901163 c.1900C>T p.H634Y Substitution - Missense 2:199272513-199272513 - Pat_54_A COSM3576147 c.659A>C p.Q220P Substitution - Missense 2:199368646-199368646 - PD9567a COSM5799935 c.57C>T p.G19G Substitution - coding silent 2:199455981-199455981 - 2492720 COSM5719881 c.1974C>T p.T658T Substitution - coding silent 2:199272439-199272439 - TCGA-61-1910-01 COSM1326545 c.2121C>T p.S707S Substitution - coding silent 2:199272292-199272292 - LUAD-D02185 COSM338713 c.1627C>T p.R543C Substitution - Missense 2:199308873-199308873 - YUMER COSM1691812 c.1474C>T p.Q492* Substitution - Nonsense 2:199323871-199323871 - pfg034T COSM4764327 c.1180T>G p.L394V Substitution - Missense 2:199328904-199328904 - TCGA-AP-A0LG-01 COSM288409 c.1710C>T p.H570H Substitution - coding silent 2:199308790-199308790 - TCGA-BL-A0C8-01 COSM418924 c.1951C>T p.Q651* Substitution - Nonsense 2:199272462-199272462 - S00932 COSM314992 c.745G>T p.G249C Substitution - Missense 2:199349129-199349129 - MO_1013 COSM5563506 c.988C>A p.Q330K Substitution - Missense 2:199348886-199348886 - TCGA-DM-A1D6-01 COSM1404367 c.580G>A p.E194K Substitution - Missense 2:199380381-199380381 - TCGA-BR-A4QL-01 COSM4090036 c.2076G>T p.E692D Substitution - Missense 2:199272337-199272337 - TCGA-CA-6717-01 COSM1404361 c.1891A>T p.S631C Substitution - Missense 2:199272522-199272522 - DLBCL-PatientC COSM221211 c.689A>C p.K230T Substitution - Missense 2:199368616-199368616 - DN1307F COSM5962487 c.1960C>G p.L654V Substitution - Missense 2:199272453-199272453 - TCGA-DG-A2KK-01 COSM4828548 c.1635G>T p.L545L Substitution - coding silent 2:199308865-199308865 - cSCCP6 COSM136299 c.1711G>A p.V571M Substitution - Missense 2:199308789-199308789 - CSCC-56-T COSM4510207 c.82C>T p.P28S Substitution - Missense 2:199455956-199455956 - TCGA-IR-A3LA-01 COSM4844812 c.322C>G p.H108D Substitution - Missense 2:199433362-199433362 - TCGA-D1-A16Y-01 COSM1014602 c.2185G>A p.E729K Substitution - Missense 2:199272228-199272228 - SJBALL153_D COSM4994181 c.1468G>A p.E490K Substitution - Missense 2:199323877-199323877 - CLL026 COSM1291408 c.849A>C p.R283R Substitution - coding silent 2:199349025-199349025 - T578 COSM4723704 c.826A>T p.I276F Substitution - Missense 2:199349048-199349048 - CHC892T COSM4960377 c.510G>A p.W170* Substitution - Nonsense 2:199380451-199380451 - 2218461 COSM4421272 c.1873G>T p.A625S Substitution - Missense 2:199272540-199272540 - CHOL15 COSM1744310 c.1516G>A p.A506T Substitution - Missense 2:199323829-199323829 - TCGA-29-1691-01 COSM1326544 c.1817C>T p.P606L Substitution - Missense 2:199272596-199272596 - 060T COSM1730054 c.2032G>T p.E678* Substitution - Nonsense 2:199272381-199272381 - SJRHB012 COSM4776327 c.1999C>T p.R667W Substitution - Missense 2:199272414-199272414 - 587220 COSM1224698 c.715C>T p.R239* Substitution - Nonsense 2:199349159-199349159 - ESCC_164 COSM2906180 c.751C>T p.R251C Substitution - Missense 2:199349123-199349123 - sysucc-880T COSM5463064 c.1262T>C p.F421S Substitution - Missense 2:199328822-199328822 - HT115 COSM2906184 c.411G>A p.A137A Substitution - coding silent 2:199381756-199381756 - MO_1013 COSM5563507 c.989A>G p.Q330R Substitution - Missense 2:199348885-199348885 - TCGA-BS-A0UV-01 COSM1014614 c.784G>A p.A262T Substitution - Missense 2:199349090-199349090 - TCGA-AX-A05Z-01 COSM1014617 c.603G>T p.M201I Substitution - Missense 2:199368702-199368702 - TCGA-IR-A3LA-01 COSM4844904 c.1096C>T p.Q366* Substitution - Nonsense 2:199348778-199348778 - T3021 COSM4723705 c.701-1G>T p.? Unknown 2:199349174-199349174 - 2492723 COSM5719881 c.1974C>T p.T658T Substitution - coding silent 2:199272439-199272439 - OSCC-GB_00640111 COSM4885242 c.332C>T p.A111V Substitution - Missense 2:199433352-199433352 - 2492711 COSM5718887 c.1356C>T p.S452S Substitution - coding silent 2:199328728-199328728 - TCGA-GC-A3RB-01 COSM357873 c.1643C>T p.P548L Substitution - Missense 2:199308857-199308857 - TCGA-66-2785-01 COSM718607 c.1332T>C p.N444N Substitution - coding silent 2:199328752-199328752 - S02384 COSM5698376 c.259G>T p.V87L Substitution - Missense 2:199433425-199433425 - CSCC-55-T COSM4524600 c.1281G>A p.V427V Substitution - coding silent 2:199328803-199328803 - ESCC_152 COSM5645455 c.1614C>G p.L538L Substitution - coding silent 2:199308886-199308886 - TCGA-AX-A0J1-01 COSM375235 c.2158G>A p.A720T Substitution - Missense 2:199272255-199272255 - MPCC_0037_Pa_C COSM3379992 c.681A>G p.K227K Substitution - coding silent 2:199368624-199368624 - CSCC-15-T COSM4471547 c.1725C>T p.P575P Substitution - coding silent 2:199308775-199308775 - CSCC-29-T COSM3576138 c.1782C>T p.S594S Substitution - coding silent 2:199272631-199272631 - ESO-1059 COSM1264886 c.1761T>A p.S587S Substitution - coding silent 2:199272652-199272652 - TCGA-24-1427-01 COSM81683 c.1800G>A p.A600A Substitution - coding silent 2:199272613-199272613 - TCGA-D5-6930-01 COSM1404363 c.1358G>A p.S453N Substitution - Missense 2:199328726-199328726 - YURDE COSM1685903 c.815C>T p.P272L Substitution - Missense 2:199349059-199349059 - OSCC-GB_00940111 COSM4891597 c.1157C>A p.A386E Substitution - Missense 2:199348717-199348717 - TCGA-22-5471-01 COSM718614 c.2005C>T p.H669Y Substitution - Missense 2:199272408-199272408 - HCT-15 COSM1669647 c.1027C>A p.P343T Substitution - Missense 2:199348847-199348847 - LUAD-CHTN-MAD04-00674 COSM357873 c.1643C>T p.P548L Substitution - Missense 2:199308857-199308857 - TCGA-A6-6781-01 COSM1404366 c.785C>T p.A262V Substitution - Missense 2:199349089-199349089 - GB10 COSM1744311 c.1105A>G p.R369G Substitution - Missense 2:199348769-199348769 - J33_T COSM3962165 c.1887C>A p.L629L Substitution - coding silent 2:199272526-199272526 - PTC-14C COSM4133364 c.320C>A p.S107Y Substitution - Missense 2:199433364-199433364 - TCGA-B6-A0IC-01 COSM442082 c.1882A>T p.I628F Substitution - Missense 2:199272531-199272531 - TCGA-D1-A17H-01 COSM1014615 c.741T>C p.V247V Substitution - coding silent 2:199349133-199349133 - ATL045 COSM5707995 c.567C>G p.S189R Substitution - Missense 2:199380394-199380394 - TCGA-AC-A23H-01 COSM3838242 c.1504C>G p.Q502E Substitution - Missense 2:199323841-199323841 - CSCC-27-T COSM4471554 c.1726C>A p.P576T Substitution - Missense 2:199308774-199308774 - TCGA-AA-A010-01 COSM284793 c.407A>G p.D136G Substitution - Missense 2:199381760-199381760 - TCGA-D1-A17M-01 COSM1014609 c.1455T>C p.A485A Substitution - coding silent 2:199323890-199323890 - TCGA-EE-A29A-06 COSM2906166 c.975G>A p.R325R Substitution - coding silent 2:199348899-199348899 - TCGA-EE-A2GC-06 COSM3576134 c.2022G>A p.G674G Substitution - coding silent 2:199272391-199272391 - TCGA-EE-A2M6-06 COSM3576141 c.1291C>T p.R431C Substitution - Missense 2:199328793-199328793 - TCGA-39-5037-01 COSM718611 c.1826A>G p.D609G Substitution - Missense 2:199272587-199272587 - ESO-051 COSM1264885 c.1045G>A p.V349I Substitution - Missense 2:199348829-199348829 - D-02 COSM4766339 c.2089G>A p.E697K Substitution - Missense 2:199272324-199272324 - TCGA-AA-3979-01 COSM297714 c.75delG p.P26fs*4 Deletion - Frameshift 2:199455963-199455963 - CSCC-19-T COSM4472953 c.1816C>T p.P606S Substitution - Missense 2:199272597-199272597 - S01512 COSM314993 c.748C>A p.Q250K Substitution - Missense 2:199349126-199349126 - CTS107 COSM5044821 c.1121G>A p.R374K Substitution - Missense 2:199348753-199348753 - PT35 COSM5911716 c.1874C>T p.A625V Substitution - Missense 2:199272539-199272539 - CSCC-4-T COSM4457096 c.1032C>T p.P344P Substitution - coding silent 2:199348842-199348842 - PT42 COSM5343958 c.2074G>A p.E692K Substitution - Missense 2:199272339-199272339 - TCGA-FW-A3R5-06 COSM1404365 c.805G>A p.E269K Substitution - Missense 2:199349069-199349069 - TCGA-D1-A103-01 COSM1014603 c.2175A>C p.A725A Substitution - coding silent 2:199272238-199272238 - LUAD-RT-S01774 COSM381488 c.2023A>G p.K675E Substitution - Missense 2:199272390-199272390 - Patient_1 COSM5413767 c.716G>A p.R239Q Substitution - Missense 2:199349158-199349158 - 2492714 COSM5718887 c.1356C>T p.S452S Substitution - coding silent 2:199328728-199328728 - 113368 COSM323197 c.1209C>A p.D403E Substitution - Missense 2:199328875-199328875 - TCGA-AP-A059-01 COSM1014608 c.1594C>T p.R532C Substitution - Missense 2:199308906-199308906 - TCGA-D3-A2JF-06 COSM3576146 c.900C>T p.P300P Substitution - coding silent 2:199348974-199348974 - YURDE COSM1685902 c.2120C>T p.S707F Substitution - Missense 2:199272293-199272293 - LUAD-QY22Z COSM394747 c.1605G>T p.W535C Substitution - Missense 2:199308895-199308895 - PD8998a COSM5769508 c.1760C>G p.S587C Substitution - Missense 2:199272653-199272653 - H2009 COSM1193909 c.1200G>T p.K400N Substitution - Missense 2:199328884-199328884 - LUAD-5V8LT COSM402147 c.527G>T p.R176L Substitution - Missense 2:199380434-199380434 - S2_pre COSM5574951 c.852C>A p.N284K Substitution - Missense 2:199349022-199349022 - CSCC-35-T COSM4555616 c.661G>A p.E221K Substitution - Missense 2:199368644-199368644 - TCGA-AX-A0J0-01 COSM1014618 c.580G>T p.E194* Substitution - Nonsense 2:199380381-199380381 - CT221 COSM5044820 c.1429G>T p.D477Y Substitution - Missense 2:199323916-199323916 - TCGA-AZ-4315-01 COSM1404365 c.805G>A p.E269K Substitution - Missense 2:199349069-199349069 - 19 COSM5746046 c.316T>C p.Y106H Substitution - Missense 2:199433368-199433368 - 276T COSM1727477 c.1390A>G p.K464E Substitution - Missense 2:199323955-199323955 - S02279 COSM5683700 c.2116G>A p.G706S Substitution - Missense 2:199272297-199272297 - TCGA-FD-A3SO-01 COSM3798482 c.1850C>T p.S617F Substitution - Missense 2:199272563-199272563 - CSCC-11-T COSM4465041 c.1364C>T p.P455L Substitution - Missense 2:199328720-199328720 - TCGA-AP-A051-01 COSM1014604 c.2151G>A p.E717E Substitution - coding silent 2:199272262-199272262 - pfg053T COSM4764326 c.1388C>G p.A463G Substitution - Missense 2:199323957-199323957 - CSCC-37-T COSM4527301 c.1453G>T p.A485S Substitution - Missense 2:199323892-199323892 - LUAD-CHTN-3090416 COSM357576 c.1957G>A p.D653N Substitution - Missense 2:199272456-199272456 - HN_62415 COSM126017 c.2034G>C p.E678D Substitution - Missense 2:199272379-199272379 - YUFERY COSM2906159 c.1166G>A p.R389H Substitution - Missense 2:199348708-199348708 - LUAD-D01382 COSM337097 c.1073T>C p.V358A Substitution - Missense 2:199348801-199348801 - PD24322a COSM5795945 c.1781C>A p.S594Y Substitution - Missense 2:199272632-199272632 - TCGA-21-1076-01 COSM718605 c.1210C>A p.P404T Substitution - Missense 2:199328874-199328874 - YUKARN COSM1685903 c.815C>T p.P272L Substitution - Missense 2:199349059-199349059 - PCSI_0090_Pa_P COSM3379991 c.1978A>G p.I660V Substitution - Missense 2:199272435-199272435 - J87_T COSM3962169 c.332C>A p.A111E Substitution - Missense 2:199433352-199433352 - TCGA-51-4079-01 COSM718602 c.294G>T p.E98D Substitution - Missense 2:199433390-199433390 - Pat_44_B COSM5861454 c.886G>A p.G296S Substitution - Missense 2:199348988-199348988 - TCGA-BG-A0M4-01 COSM1014613 c.940G>A p.A314T Substitution - Missense 2:199348934-199348934 - J76_T COSM3962167 c.1337G>T p.S446I Substitution - Missense 2:199328747-199328747 - 2492722 COSM5723638 c.1349C>T p.S450L Substitution - Missense 2:199328735-199328735 - TCGA-CJ-5672-01 COSM476720 c.595C>T p.Q199* Substitution - Nonsense 2:199380366-199380366 - J33_T COSM3962166 c.1710C>A p.H570Q Substitution - Missense 2:199308790-199308790 - CSCC-15-T COSM4531268 c.1773G>A p.K591K Substitution - coding silent 2:199272640-199272640 - DN111A7 COSM5769508 c.1760C>G p.S587C Substitution - Missense 2:199272653-199272653 - CSCC-6-T COSM4455827 c.915A>G p.Q305Q Substitution - coding silent 2:199348959-199348959 - TCGA-F5-6814-01 COSM3425923 c.1404G>A p.P468P Substitution - coding silent 2:199323941-199323941 - TCGA-B0-4693-01 COSM3364480 c.1217C>G p.T406R Substitution - Missense 2:199328867-199328867 - 2492723 COSM5723638 c.1349C>T p.S450L Substitution - Missense 2:199328735-199328735 - HCC38T COSM1614111 c.1503T>C p.S501S Substitution - coding silent 2:199323842-199323842 - CHC1201T COSM4801696 c.2016C>G p.H672Q Substitution - Missense 2:199272397-199272397 - LUAD-CHTN-MAD06-00668 COSM359616 c.249G>C p.E83D Substitution - Missense 2:199433435-199433435 - TCGA-EE-A2MM-06 COSM3576144 c.1005C>T p.I335I Substitution - coding silent 2:199348869-199348869 - YUKARN COSM1685902 c.2120C>T p.S707F Substitution - Missense 2:199272293-199272293 - PT47 COSM5930202 c.533C>T p.A178V Substitution - Missense 2:199380428-199380428 - RK042_C01 COSM1631712 c.1927G>C p.E643Q Substitution - Missense 2:199272486-199272486 - TCGA-EB-A41A-01 COSM3576136 c.1918C>T p.P640S Substitution - Missense 2:199272495-199272495 - HCC1 COSM1614113 c.1147G>C p.A383P Substitution - Missense 2:199348727-199348727 - TCGA-60-2724-01 COSM718610 c.1757A>T p.Q586L Substitution - Missense 2:199272656-199272656 - LAU618 COSM233303 c.2140G>A p.E714K Substitution - Missense 2:199272273-199272273 - HCC058T COSM5804830 c.1587A>G p.P529P Substitution - coding silent 2:199308913-199308913 - TCGA-B2-3924-01 COSM476719 c.1004T>C p.I335T Substitution - Missense 2:199348870-199348870 - TCGA-EE-A181-06 COSM3576135 c.1986C>T p.F662F Substitution - coding silent 2:199272427-199272427 - TCGA-B5-A11S-01 COSM1014610 c.1435G>A p.A479T Substitution - Missense 2:199323910-199323910 - TCGA-FP-A4BE-01 COSM4090040 c.966C>T p.A322A Substitution - coding silent 2:199348908-199348908 - 2521243 COSM5886181 c.170-7C>T p.? Unknown 2:199433521-199433521 - SNU-175 COSM2906129 c.2070G>A p.K690K Substitution - coding silent 2:199272343-199272343 - GHE0609 COSM1752233 c.406G>A p.D136N Substitution - Missense 2:199381761-199381761 - TCGA-BR-8360-01 COSM4090038 c.1879G>T p.G627W Substitution - Missense 2:199272534-199272534 - TCGA-EE-A2MC-06 COSM3576140 c.1397C>T p.S466L Substitution - Missense 2:199323948-199323948 - PT32 COSM1691811 c.1723C>T p.P575S Substitution - Missense 2:199308777-199308777 - B80-Tumor COSM1752232 c.1662C>T p.V554V Substitution - coding silent 2:199308838-199308838 - IGROV-1 COSM1669646 c.1115T>C p.L372P Substitution - Missense 2:199348759-199348759 - SS6003115 COSM5037371 c.1761T>C p.S587S Substitution - coding silent 2:199272652-199272652 - T1 COSM5617611 c.2174C>A p.A725E Substitution - Missense 2:199272239-199272239 - TCGA-AC-A23H-01 COSM3838243 c.1384C>T p.Q462* Substitution - Nonsense 2:199328700-199328700 - CSCC-44-T COSM4451108 c.1064A>G p.N355S Substitution - Missense 2:199348810-199348810 - S01512 COSM314993 c.748C>A p.Q250K Substitution - Missense 2:199349126-199349126 - PT37 COSM3576140 c.1397C>T p.S466L Substitution - Missense 2:199323948-199323948 - TCGA-34-5240-01 COSM718606 c.1263C>T p.F421F Substitution - coding silent 2:199328821-199328821 - BD177T COSM5517308 c.1234C>T p.L412L Substitution - coding silent 2:199328850-199328850 - CHC1715T COSM5347881 c.449_456delTGACGTTG p.V150fs*56 Deletion - Frameshift 2:199381711-199381718 - TCGA-AD-6889-01 COSM1404360 c.2021G>T p.G674V Substitution - Missense 2:199272392-199272392 - B80-0-Tumor COSM1752233 c.406G>A p.D136N Substitution - Missense 2:199381761-199381761 - TCGA-A4-7583-01 COSM3990966 c.1237G>T p.V413L Substitution - Missense 2:199328847-199328847 - CSCC-31-T COSM4532423 c.1881G>A p.G627G Substitution - coding silent 2:199272532-199272532 - TCGA-22-5471-01 COSM718612 c.1880G>C p.G627A Substitution - Missense 2:199272533-199272533 - PT21_2 COSM2906135 c.1781C>T p.S594F Substitution - Missense 2:199272632-199272632 - TCGA-BR-7851-01 COSM4090045 c.300G>A p.A100A Substitution - coding silent 2:199433384-199433384 - TC71 COSM4583075 c.1818G>T p.P606P Substitution - coding silent 2:199272595-199272595 - CHC1201T COSM4801696 c.2016C>G p.H672Q Substitution - Missense 2:199272397-199272397 - TCGA-CG-5723-01 COSM4090039 c.1700G>A p.R567H Substitution - Missense 2:199308800-199308800 - BD124T COSM5491547 c.243C>T p.H81H Substitution - coding silent 2:199433441-199433441 - TCGA-ER-A193-06 COSM3576142 c.1260T>A p.N420K Substitution - Missense 2:199328824-199328824 - S2_post COSM5574951 c.852C>A p.N284K Substitution - Missense 2:199349022-199349022 - pfg125T COSM2906155 c.1376G>A p.R459Q Substitution - Missense 2:199328708-199328708 - 2492721 COSM5723638 c.1349C>T p.S450L Substitution - Missense 2:199328735-199328735 - LUAD-S01404 COSM398789 c.55G>T p.G19C Substitution - Missense 2:199455983-199455983 - TCGA-51-4081-01 COSM718601 c.279T>C p.F93F Substitution - coding silent 2:199433405-199433405 - PD7188a COSM1014611 c.1196G>A p.R399H Substitution - Missense 2:199328888-199328888 - TCGA-BR-4361-01 COSM4090041 c.584G>A p.C195Y Substitution - Missense 2:199380377-199380377 - pfg151T COSM338713 c.1627C>T p.R543C Substitution - Missense 2:199308873-199308873 - B80-0 COSM1752233 c.406G>A p.D136N Substitution - Missense 2:199381761-199381761 - TCGA-A5-A0VP-01 COSM1014607 c.1699C>T p.R567C Substitution - Missense 2:199308801-199308801 - RKO COSM2906139 c.1719G>A p.Q573Q Substitution - coding silent 2:199308781-199308781 - TCGA-EE-A29X-06 COSM3576132 c.2184C>T p.A728A Substitution - coding silent 2:199272229-199272229 - TCGA-AC-A23H-01 COSM3838241 c.1665C>G p.I555M Substitution - Missense 2:199308835-199308835 - T32 COSM5343958 c.2074G>A p.E692K Substitution - Missense 2:199272339-199272339 - CSCC-56-T COSM718606 c.1263C>T p.F421F Substitution - coding silent 2:199328821-199328821 - 2492712 COSM5718887 c.1356C>T p.S452S Substitution - coding silent 2:199328728-199328728 - 230 COSM3730324 c.1246A>G p.R416G Substitution - Missense 2:199328838-199328838 - TCGA-A8-A09Z-01 COSM3838240 c.2072A>T p.D691V Substitution - Missense 2:199272341-199272341 - RK042_C COSM1631712 c.1927G>C p.E643Q Substitution - Missense 2:199272486-199272486 - TCGA-AD-6895-01 COSM1404362 c.1818G>A p.P606P Substitution - coding silent 2:199272595-199272595 - S00501 COSM1014614 c.784G>A p.A262T Substitution - Missense 2:199349090-199349090 - 1428_T COSM3962168 c.1314G>A p.E438E Substitution - coding silent 2:199328770-199328770 - 587238 COSM1014613 c.940G>A p.A314T Substitution - Missense 2:199348934-199348934 - TCGA-DA-A3F5-06 COSM1685903 c.815C>T p.P272L Substitution - Missense 2:199349059-199349059 - 61 COSM5736372 c.2124G>T p.E708D Substitution - Missense 2:199272289-199272289 - B80 COSM1752232 c.1662C>T p.V554V Substitution - coding silent 2:199308838-199308838 - TCGA-QB-A6FS-06 COSM1404365 c.805G>A p.E269K Substitution - Missense 2:199349069-199349069 - PD6719a COSM5778687 c.845T>A p.I282N Substitution - Missense 2:199349029-199349029 - CSCC-56-T COSM4531283 c.1774G>A p.E592K Substitution - Missense 2:199272639-199272639 - 2492721 COSM5719881 c.1974C>T p.T658T Substitution - coding silent 2:199272439-199272439 - XHDG35 COSM4769508 c.1986C>A p.F662L Substitution - Missense 2:199272427-199272427 - TCGA-BR-4368-01 COSM4090042 c.420C>T p.A140A Substitution - coding silent 2:199381747-199381747 - BD236T COSM2906159 c.1166G>A p.R389H Substitution - Missense 2:199348708-199348708 - CSCC-57-T COSM4524600 c.1281G>A p.V427V Substitution - coding silent 2:199328803-199328803 - DN1307F COSM5962469 c.1980C>T p.I660I Substitution - coding silent 2:199272433-199272433 - CSCC-60-T COSM4532423 c.1881G>A p.G627G Substitution - coding silent 2:199272532-199272532 - DLD1 COSM1669647 c.1027C>A p.P343T Substitution - Missense 2:199348847-199348847 - 587220 COSM1224697 c.2033A>C p.E678A Substitution - Missense 2:199272380-199272380 - TCGA-DA-A3F5-06 COSM1685902 c.2120C>T p.S707F Substitution - Missense 2:199272293-199272293 - H650 COSM1194766 c.751C>G p.R251G Substitution - Missense 2:199349123-199349123 - 585267 COSM323199 c.939G>T p.M313I Substitution - Missense 2:199348935-199348935 - PR-09-5446 COSM247180 c.1453G>A p.A485T Substitution - Missense 2:199323892-199323892 - TCGA-B5-A11E-01 COSM1014606 c.1749T>C p.H583H Substitution - coding silent 2:199272664-199272664 - TCGA-BR-4184-01 COSM4090044 c.333G>A p.A111A Substitution - coding silent 2:199433351-199433351 - 2492722 COSM5719881 c.1974C>T p.T658T Substitution - coding silent 2:199272439-199272439 - SNU-C4 COSM4653415 c.1385A>G p.Q462R Substitution - Missense 2:199328699-199328699 - TCGA-EE-A2GP-06 COSM3576137 c.1804C>T p.P602S Substitution - Missense 2:199272609-199272609 - TCGA-AP-A0LM-01 COSM1014612 c.1056G>T p.E352D Substitution - Missense 2:199348818-199348818 - TCGA-EE-A2GP-06 COSM3576145 c.978C>T p.L326L Substitution - coding silent 2:199348896-199348896 - PCSI_0090_Pa_X COSM3379991 c.1978A>G p.I660V Substitution - Missense 2:199272435-199272435 - TCGA-EE-A20C-06 COSM3576138 c.1782C>T p.S594S Substitution - coding silent 2:199272631-199272631 - SN12C COSM1669645 c.1619C>A p.T540N Substitution - Missense 2:199308881-199308881 - TCGA-70-6722-01 COSM718600 c.213C>G p.G71G Substitution - coding silent 2:199433471-199433471 - TCGA-A3-3363-01 COSM1494796 c.262C>T p.R88W Substitution - Missense 2:199433422-199433422 - L10 COSM3576136 c.1918C>T p.P640S Substitution - Missense 2:199272495-199272495 - TCGA-FS-A4FB-06 COSM3576147 c.659A>C p.Q220P Substitution - Missense 2:199368646-199368646 - CSCC-57-T COSM4534614 c.2104G>C p.D702H Substitution - Missense 2:199272309-199272309 - C135 COSM4090037 c.2048C>T p.A683V Substitution - Missense 2:199272365-199272365 - ESO-721 COSM1264887 c.559A>C p.N187H Substitution - Missense 2:199380402-199380402 - 226 COSM2906180 c.751C>T p.R251C Substitution - Missense 2:199349123-199349123 - TCGA-39-5016-01 COSM718603 c.660G>C p.Q220H Substitution - Missense 2:199368645-199368645 - TCGA-FS-A1ZZ-06 COSM3576143 c.1052C>T p.P351L Substitution - Missense 2:199348822-199348822 - TCGA-B5-A0JY-01 COSM1014611 c.1196G>A p.R399H Substitution - Missense 2:199328888-199328888 - 2334187 COSM323200 c.2089G>C p.E697Q Substitution - Missense 2:199272324-199272324 - HCC1T COSM1614112 c.1443C>T p.I481I Substitution - coding silent 2:199323902-199323902 - PDA_086 COSM5002802 c.1970A>G p.H657R Substitution - Missense 2:199272443-199272443 - T469 COSM4723703 c.2028G>A p.L676L Substitution - coding silent 2:199272385-199272385 - SC_9081 COSM2906172 c.862G>A p.A288T Substitution - Missense 2:199349012-199349012 - LP6005935-DNA_G03 COSM5032303 c.496C>T p.P166S Substitution - Missense 2:199380465-199380465 - T3503 COSM2906140 c.1696G>A p.E566K Substitution - Missense 2:199308804-199308804 - LP6007544-DNA_A01 COSM5034561 c.2038C>T p.L680L Substitution - coding silent 2:199272375-199272375 - 2492720 COSM5723638 c.1349C>T p.S450L Substitution - Missense 2:199328735-199328735 - TCGA-BH-A1F8-01 COSM1014607 c.1699C>T p.R567C Substitution - Missense 2:199308801-199308801 - TCGA-60-2712-01 COSM718604 c.1072G>A p.V358M Substitution - Missense 2:199348802-199348802 - 8051734 COSM4138317 c.1951C>A p.Q651K Substitution - Missense 2:199272462-199272462 - 2492713 COSM5718887 c.1356C>T p.S452S Substitution - coding silent 2:199328728-199328728 - TCGA-AY-6386-01 COSM1404364 c.1226A>G p.Q409R Substitution - Missense 2:199328858-199328858 - 134430 COSM323198 c.1316G>A p.R439Q Substitution - Missense 2:199328768-199328768 - CSCC-62-T COSM4509536 c.80C>T p.P27L Substitution - Missense 2:199455958-199455958 - TCGA-AG-3881-01 COSM288409 c.1710C>T p.H570H Substitution - coding silent 2:199308790-199308790 - TCGA-FS-A1ZC-06 COSM3576139 c.1474C>G p.Q492E Substitution - Missense 2:199323871-199323871 - H358 COSM1194214 c.2025G>T p.K675N Substitution - Missense 2:199272388-199272388 - LP6007546-DNA_A01 COSM5952479 c.1887C>T p.L629L Substitution - coding silent 2:199272526-199272526 - 49M COSM5592975 c.256C>T p.L86L Substitution - coding silent 2:199433428-199433428 - TCGA-BR-6452-01 COSM4090043 c.394A>C p.T132P Substitution - Missense 2:199381773-199381773 - LUAD-NYU584S COSM375235 c.2158G>A p.A720T Substitution - Missense 2:199272255-199272255 - CHC892T COSM4960377 c.510G>A p.W170* Substitution - Nonsense 2:199380451-199380451 - TCGA-F5-6814-01 COSM3425924 c.244G>A p.A82T Substitution - Missense 2:199433440-199433440 - TCGA-AP-A056-01 COSM1014618 c.580G>T p.E194* Substitution - Nonsense 2:199380381-199380381 - YUBER COSM1691811 c.1723C>T p.P575S Substitution - Missense 2:199308777-199308777 - C086 COSM5538536 c.2088C>T p.T696T Substitution - coding silent 2:199272325-199272325 - PD3985a COSM164183 c.1432G>A p.G478S Substitution - Missense 2:199323913-199323913 - BD179T COSM5499794 c.739G>T p.V247F Substitution - Missense 2:199349135-199349135 - TCGA-EI-6917-01 COSM1404365 c.805G>A p.E269K Substitution - Missense 2:199349069-199349069 - TCGA-G2-A2EO-01 COSM1306274 c.896C>G p.S299C Substitution - Missense 2:199348978-199348978 - PT13 COSM5895603 c.1880G>A p.G627E Substitution - Missense 2:199272533-199272533 - HCC1T COSM1614113 c.1147G>C p.A383P Substitution - Missense 2:199348727-199348727 - TCGA-BP-5001-01 COSM476717 c.1176A>T p.G392G Substitution - coding silent 2:199328908-199328908 - TCGA-B5-A11N-01 COSM1014616 c.700+2T>C p.? Unknown 2:199368603-199368603 - PTC-14C COSM4133363 c.430C>A p.Q144K Substitution - Missense 2:199381737-199381737 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.516617 2q33 608148

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L394W c.1181T>G 2 200193626 CM A G IntronicSNV . c.598-3675T>C 2 200237105 CLL A G Missense p.V358A c.1073T>C 2 200213524 LUAD A G Missense p.V554A c.1661T>C 2 200173562 HNSC A G Synonymous p.F93F c.279T>C 2 200298128 LUSC A T Missense p.N420K c.1260T>A 2 200193547 CM A T Synonymous p.S587S c.1761T>A 2 200137375 ESCA C A Missense p.A479S c.1435G>T 2 200188633 LUAD C A Missense p.C159F c.476G>T 2 200245208 LUAD C A Missense p.D133Y c.397G>T 2 200246493 LUAD C A Missense p.E98D c.294G>T 2 200298113 LUSC C A Missense p.G249C c.745G>T 2 200213852 SCLC C A Missense p.G71V c.212G>T 2 200298195 LUAD C A Missense p.M313I c.939G>T 2 200213658 SCLC C A Missense p.Q188H c.564G>T 2 200245120 LUAD C A Missense p.Q270H c.810G>T 2 200213787 LUAD C A Missense p.S129I c.386G>T 2 200246504 HNSC C A Missense p.V579L c.1735G>T 2 200173488 LUAD C A Nonsense p.E643* c.1927G>T 2 200137209 LUAD C A Nonsense p.G121* c.361G>T 2 200246529 LUAD C A SpliceDonorSNV . c.346+1G>T 2 200298060 HNSC C A SpliceDonorSNV . c.473+1G>T 2 200246416 LUAD C A Synonymous p.A137A c.411G>T 2 200246479 BRCA C A Synonymous p.L638L c.1914G>T 2 200137222 LUAD C - Frameshift p.P26Lfs*4 c.75delG 2 200320686 COREAD C G Missense p.E643Q c.1927G>C 2 200137209 HC C G Missense p.E678D c.2034G>C 2 200137102 HNSC C G Missense p.E697Q c.2089G>C 2 200137047 SCLC C G Missense p.G627A c.1880G>C 2 200137256 LUSC C G Missense p.Q220H c.660G>C 2 200233368 LUSC C G Missense p.R78T c.233G>C 2 200298174 LUAD C G SpliceAcceptorSNV . c.1543-1G>C 2 200173681 LUAD C T 3-UTRSNV . c.2199+43G>A 2 200136894 CM C T IntronicSNV . c.597+119G>A 2 200244968 CLL C T Missense p.A314T c.940G>A 2 200213657 UCEC C T Missense p.E708K c.2122G>A 2 200137014 CM C T Missense p.E729K c.2185G>A 2 200136951 UCEC C T Missense p.G478S c.1432G>A 2 200188636 BRCA C T Missense p.R374K c.1121G>A 2 200213476 CM C T Missense p.R439Q c.1316G>A 2 200193491 SCLC C T Missense p.R543H c.1628G>A 2 200173595 HNSC C T Missense p.R618H c.1853G>A 2 200137283 BRCA C T Missense p.V349I c.1045G>A 2 200213552 ESCA C T Missense p.V358M c.1072G>A 2 200213525 LUSC C T Nonsense p.W523* c.1568G>A 2 200173655 CM C T Synonymous p.A600A c.1800G>A 2 200137336 OV C T Synonymous p.G674G c.2022G>A 2 200137114 CM C T Synonymous p.R325R c.975G>A 2 200213622 CM G A IntronicSNV . c.1173+4533C>T 2 200208891 CLL G A IntronicSNV . c.1174-15C>T 2 200193648 CM G A IntronicSNV . c.1543-1206C>T 2 200174886 CLL G A Missense p.H277Y c.829C>T 2 200213768 CM G A Missense p.H669Y c.2005C>T 2 200137131 LUSC G A Missense p.P272L c.815C>T 2 200213782 CM G A Missense p.P351L c.1052C>T 2 200213545 CM G A Missense p.P548L c.1643C>T 2 200173580 BLCA G A Missense p.P602S c.1804C>T 2 200137332 CM G A Missense p.R431C c.1291C>T 2 200193516 CM G A Missense p.R567C c.1699C>T 2 200173524 BRCA G A Missense p.R567C c.1699C>T 2 200173524 HNSC G A Missense p.R567C c.1699C>T 2 200173524 UCEC G A Missense p.S160L c.479C>T 2 200245205 CM G A Missense p.S452F c.1355C>T 2 200193452 CM G A Missense p.S466L c.1397C>T 2 200188671 CM G A Missense p.S707F c.2120C>T 2 200137016 CM G A Missense p.S72F c.215C>T 2 200298192 LUAD G A Nonsense p.Q199* c.595C>T 2 200245089 RCCC G A Nonsense p.Q434* c.1300C>T 2 200193507 HNSC G A Nonsense p.Q651* c.1951C>T 2 200137185 BLCA G A Nonsense p.Q651* c.1951C>T 2 200137185 HNSC G A Synonymous p.A140A c.420C>T 2 200246470 STAD G A Synonymous p.A728A c.2184C>T 2 200136952 CM G A Synonymous p.F421F c.1263C>T 2 200193544 LUSC G A Synonymous p.F662F c.1986C>T 2 200137150 CM G A Synonymous p.H570H c.1710C>T 2 200173513 COREAD G A Synonymous p.H570H c.1710C>T 2 200173513 UCEC G A Synonymous p.I335I c.1005C>T 2 200213592 CM G A Synonymous p.L326L c.978C>T 2 200213619 CM G A Synonymous p.P300P c.900C>T 2 200213697 CM G A Synonymous p.S594S c.1782C>T 2 200137354 CM G C Missense p.I154M c.462C>G 2 200246428 HNSC G C Missense p.I660M c.1980C>G 2 200137156 LUAD G C Missense p.Q492E c.1474C>G 2 200188594 CM G C Missense p.S299C c.896C>G 2 200213701 BLCA G C Missense p.T406R c.1217C>G 2 200193590 RCCC G C Synonymous p.G71G c.213C>G 2 200298194 LUSC G T Missense p.D403E c.1209C>A 2 200193598 SCLC G T Missense p.P404T c.1210C>A 2 200193597 LUSC G T Missense p.Q250K c.748C>A 2 200213849 SCLC G T Missense p.Q338K c.1012C>A 2 200213585 MM G T Missense p.S356Y c.1067C>A 2 200213530 LUAD T A Missense p.I628F c.1882A>T 2 200137254 BRCA T A Missense p.Q586L c.1757A>T 2 200137379 LUSC T A Synonymous p.G392G c.1176A>T 2 200193631 RCCC T A Synonymous p.S160S c.480A>T 2 200245204 HNSC T C 3-UTRSNV . c.2199+211A>G 2 200136726 HC T C IntronicSNV . c.700+737A>G 2 200232591 CLL T C Missense p.D609G c.1826A>G 2 200137310 LUSC T C Missense p.N388S c.1163A>G 2 200213434 RCCC - T Frameshift p.E352Rfs*20 c.1053dupA 2 200213544 HNSC T G 3-UTRSNV . c.2199+68A>C 2 200136869 ESCA T G Synonymous p.R283R c.849A>C 2 200213748 CLL