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 11 45955620 45955620 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr11:45955620C>T c.1942G>A c.(1942-1944)Gac>Aac p.D648N BLCA 11 45986877 45986877 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr11:45986877G>A c.982C>T c.(982-984)Ctt>Ttt p.L328F BLCA 11 45986918 45986918 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr11:45986918C>T c.941G>A c.(940-942)aGa>aAa p.R314K BLCA 11 46100684 46100684 + Splice_Site SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr11:46100684C>A c.e4+1 BLCA 11 46105755 46105755 + Missense_Mutation SNP G G C TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr11:46105755G>C c.16C>G c.(16-18)Cta>Gta p.L6V BRCA 11 45967433 45967433 + Silent SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr11:45967433T>G c.1407A>C c.(1405-1407)gcA>gcC p.A469A BRCA 11 45986874 45986874 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:45986874C>G c.985G>C c.(985-987)Gaa>Caa p.E329Q CESC 11 45955550 45955550 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr11:45955550G>A c.2012C>T c.(2011-2013)gCg>gTg p.A671V CESC 11 45975137 45975137 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 g.chr11:45975137C>T c.1033G>A c.(1033-1035)Gag>Aag p.E345K CESC 11 45992778 45992778 + Silent SNP A A G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 g.chr11:45992778A>G c.501T>C c.(499-501)gcT>gcC p.A167A CESC 11 45992865 45992865 + Silent SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr11:45992865C>T c.414G>A c.(412-414)ttG>ttA p.L138L COAD 11 45955597 45955597 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:45955597G>A c.1965C>T c.(1963-1965)gcC>gcT p.A655A COAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs COAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs COAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs COAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs COAD 11 45955694 45955694 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr11:45955694C>T c.1868G>A c.(1867-1869)cGc>cAc p.R623H COAD 11 45957290 45957291 + Splice_Site DEL GC GC - TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr11:45957290_45957291delGC c.1682delGC c.(1681-1683)ggc>gc p.G561fs COAD 11 45959805 45959805 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr11:45959805C>T c.1508G>A c.(1507-1509)tGc>tAc p.C503Y COAD 11 45967555 45967555 + Splice_Site SNP C C T TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr11:45967555C>T c.e14-1 COAD 11 45975087 45975087 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:45975087C>T c.1083G>A c.(1081-1083)gaG>gaA p.E361E COAD 11 45986931 45986931 + Missense_Mutation SNP T T C TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr11:45986931T>C c.928A>G c.(928-930)Act>Gct p.T310A COAD 11 45986969 45986969 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr11:45986969G>A c.890C>T c.(889-891)aCg>aTg p.T297M COAD 11 45992680 45992680 + Frame_Shift_Del DEL T T - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr11:45992680delT c.599delA c.(598-600)aacfs p.N200fs COAD 11 45992799 45992799 + Silent SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr11:45992799G>A c.480C>T c.(478-480)acC>acT p.T160T COAD 11 45992851 45992851 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr11:45992851G>A c.428C>T c.(427-429)gCg>gTg p.A143V COAD 11 45992871 45992871 + Silent SNP G G A TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr11:45992871G>A c.408C>T c.(406-408)ctC>ctT p.L136L COADREAD 11 45955597 45955597 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr11:45955597G>A c.1965C>T c.(1963-1965)gcC>gcT p.A655A COADREAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs COADREAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs COADREAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs COADREAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs COADREAD 11 45955694 45955694 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr11:45955694C>T c.1868G>A c.(1867-1869)cGc>cAc p.R623H COADREAD 11 45957274 45957274 + Silent SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:45957274T>C c.1698A>G c.(1696-1698)aaA>aaG p.K566K COADREAD 11 45957290 45957291 + Splice_Site DEL GC GC - TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr11:45957290_45957291delGC c.1682delGC c.(1681-1683)ggc>gc p.G561fs COADREAD 11 45958052 45958052 + Silent SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:45958052G>A c.1674C>T c.(1672-1674)taC>taT p.Y558Y COADREAD 11 45959805 45959805 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr11:45959805C>T c.1508G>A c.(1507-1509)tGc>tAc p.C503Y COADREAD 11 45967427 45967427 + Silent SNP A A G TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr11:45967427A>G c.1413T>C c.(1411-1413)gtT>gtC p.V471V COADREAD 11 45967555 45967555 + Splice_Site SNP C C T TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr11:45967555C>T c.e14-1 COADREAD 11 45975087 45975087 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:45975087C>T c.1083G>A c.(1081-1083)gaG>gaA p.E361E COADREAD 11 45986931 45986931 + Missense_Mutation SNP T T C TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr11:45986931T>C c.928A>G c.(928-930)Act>Gct p.T310A COADREAD 11 45986969 45986969 + Missense_Mutation SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr11:45986969G>A c.890C>T c.(889-891)aCg>aTg p.T297M COADREAD 11 45991374 45991374 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:45991374G>T c.691C>A c.(691-693)Ctt>Att p.L231I COADREAD 11 45992680 45992680 + Frame_Shift_Del DEL T T - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr11:45992680delT c.599delA c.(598-600)aacfs p.N200fs COADREAD 11 45992799 45992799 + Silent SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr11:45992799G>A c.480C>T c.(478-480)acC>acT p.T160T COADREAD 11 45992851 45992851 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr11:45992851G>A c.428C>T c.(427-429)gCg>gTg p.A143V COADREAD 11 45992871 45992871 + Silent SNP G G A TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr11:45992871G>A c.408C>T c.(406-408)ctC>ctT p.L136L DLBC 11 45987091 45987091 + Silent SNP A A T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr11:45987091A>T c.768T>A c.(766-768)gcT>gcA p.A256A ESCA 11 45991391 45991391 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 g.chr11:45991391G>A c.674C>T c.(673-675)aCt>aTt p.T225I ESCA 11 45992882 45992882 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr11:45992882T>C c.397A>G c.(397-399)Aca>Gca p.T133A ESCA 11 46001444 46001444 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr11:46001444G>A c.227C>T c.(226-228)cCa>cTa p.P76L GBMLGG 11 45959824 45959824 + Missense_Mutation SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 g.chr11:45959824T>C c.1489A>G c.(1489-1491)Agt>Ggt p.S497G GBMLGG 11 46098353 46098356 + Frame_Shift_Del DEL TTTC TTTC - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr11:46098353_46098356delTTTC c.102_105delGAAA c.(100-105)aagaaafs p.KK34fs HNSC 11 45958121 45958121 + Splice_Site SNP C C G TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr11:45958121C>G c.e16-1 HNSC 11 45967551 45967551 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 g.chr11:45967551C>T c.1289G>A c.(1288-1290)cGt>cAt p.R430H HNSC 11 45970965 45970965 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr11:45970965G>A c.1212C>T c.(1210-1212)gtC>gtT p.V404V HNSC 11 45970983 45970983 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 g.chr11:45970983C>T c.1194G>A c.(1192-1194)ccG>ccA p.P398P HNSC 11 45975109 45975109 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr11:45975109G>T c.1061C>A c.(1060-1062)gCa>gAa p.A354E HNSC 11 45992797 45992797 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 g.chr11:45992797G>T c.482C>A c.(481-483)gCc>gAc p.A161D KICH 11 46001380 46001380 + Silent SNP T T C TCGA-KO-8417-01A-11D-2310-10 TCGA-KO-8417-11A-01D-2311-10 g.chr11:46001380T>C c.291A>G c.(289-291)caA>caG p.Q97Q KIPAN 11 45955639 45955639 + Silent SNP C C A TCGA-BP-4158-01A-02D-1366-10 TCGA-BP-4158-11A-01D-1366-10 g.chr11:45955639C>A c.1923G>T c.(1921-1923)ggG>ggT p.G641G KIPAN 11 46001380 46001380 + Silent SNP T T C TCGA-KO-8417-01A-11D-2310-10 TCGA-KO-8417-11A-01D-2311-10 g.chr11:46001380T>C c.291A>G c.(289-291)caA>caG p.Q97Q KIRC 11 45955639 45955639 + Silent SNP C C A TCGA-BP-4158-01A-02D-1366-10 TCGA-BP-4158-11A-01D-1366-10 g.chr11:45955639C>A c.1923G>T c.(1921-1923)ggG>ggT p.G641G LGG 11 45959824 45959824 + Missense_Mutation SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 g.chr11:45959824T>C c.1489A>G c.(1489-1491)Agt>Ggt p.S497G LGG 11 46098353 46098356 + Frame_Shift_Del DEL TTTC TTTC - TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr11:46098353_46098356delTTTC c.102_105delGAAA c.(100-105)aagaaafs p.KK34fs LIHC 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs LIHC 11 45957241 45957241 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr11:45957241delT c.1731delA c.(1729-1731)aaafs p.K577fs LIHC 11 45958088 45958088 + Silent SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr11:45958088A>G c.1638T>C c.(1636-1638)ccT>ccC p.P546P LIHC 11 45975168 45975168 + Silent SNP T T C TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr11:45975168T>C c.1002A>G c.(1000-1002)aaA>aaG p.K334K LIHC 11 45991402 45991402 + Silent SNP A A G TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr11:45991402A>G c.663T>C c.(661-663)ccT>ccC p.P221P LIHC 11 45992680 45992680 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr11:45992680delT c.599delA c.(598-600)aacfs p.N200fs LIHC 11 46098351 46098351 + Missense_Mutation SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr11:46098351T>C c.107A>G c.(106-108)cAg>cGg p.Q36R LUAD 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr11:45955607delG c.1955delC c.(1954-1956)cctfs p.P652fs LUAD 11 45959829 45959829 + Missense_Mutation SNP C C T TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr11:45959829C>T c.1484G>A c.(1483-1485)aGa>aAa p.R495K LUAD 11 45967443 45967443 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr11:45967443G>A c.1397C>T c.(1396-1398)aCt>aTt p.T466I LUAD 11 45970444 45970444 + Silent SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr11:45970444C>T c.1278G>A c.(1276-1278)cgG>cgA p.R426R LUAD 11 45975093 45975093 + Silent SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr11:45975093C>A c.1077G>T c.(1075-1077)cgG>cgT p.R359R LUAD 11 45991437 45991437 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr11:45991437G>A c.628C>T c.(628-630)Cct>Tct p.P210S LUAD 11 45992717 45992717 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr11:45992717C>A c.562G>T c.(562-564)Ggg>Tgg p.G188W LUAD 11 45992772 45992772 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chr11:45992772G>A c.507C>T c.(505-507)ctC>ctT p.L169L LUAD 11 45992814 45992814 + Silent SNP G G A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr11:45992814G>A c.465C>T c.(463-465)acC>acT p.T155T LUAD 11 46105753 46105753 + Silent SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr11:46105753T>A c.18A>T c.(16-18)ctA>ctT p.L6L LUSC 11 45970972 45970972 + Missense_Mutation SNP C C T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr11:45970972C>T c.1205G>A c.(1204-1206)gGa>gAa p.G402E LUSC 11 46001392 46001392 + Missense_Mutation SNP C C A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr11:46001392C>A c.279G>T c.(277-279)caG>caT p.Q93H OV 11 45967431 45967431 + Missense_Mutation SNP G G T TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 g.chr11:45967431G>T c.1409C>A c.(1408-1410)cCt>cAt p.P470H OV 11 45987013 45987013 + Missense_Mutation SNP G G C TCGA-13-2071-01A-02D-1526-09 TCGA-13-2071-10A-01D-1526-09 g.chr11:45987013G>C c.846C>G c.(844-846)caC>caG p.H282Q PAAD 11 45992707 45992707 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:45992707G>A c.572C>T c.(571-573)gCa>gTa p.A191V PAAD 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr11:46001356_46001358delGTG c.313_315delCAC c.(313-315)cacdel p.H105del PAAD 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:46001356_46001358delGTG c.313_315delCAC c.(313-315)cacdel p.H105del PAAD 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 g.chr11:46001356_46001358delGTG c.313_315delCAC c.(313-315)cacdel p.H105del PAAD 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr11:46001356_46001358delGTG c.313_315delCAC c.(313-315)cacdel p.H105del READ 11 45957274 45957274 + Silent SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:45957274T>C c.1698A>G c.(1696-1698)aaA>aaG p.K566K READ 11 45958052 45958052 + Silent SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:45958052G>A c.1674C>T c.(1672-1674)taC>taT p.Y558Y READ 11 45967427 45967427 + Silent SNP A A G TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chr11:45967427A>G c.1413T>C c.(1411-1413)gtT>gtC p.V471V READ 11 45991374 45991374 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:45991374G>T c.691C>A c.(691-693)Ctt>Att p.L231I SKCM 11 45955566 45955566 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr11:45955566A>T c.1996T>A c.(1996-1998)Tcc>Acc p.S666T SKCM 11 45955721 45955721 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr11:45955721G>A c.1841C>T c.(1840-1842)tCc>tTc p.S614F SKCM 11 45959822 45959822 + Silent SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr11:45959822A>G c.1491T>C c.(1489-1491)agT>agC p.S497S SKCM 11 45959846 45959846 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr11:45959846A>C c.1467T>G c.(1465-1467)gaT>gaG p.D489E SKCM 11 45967506 45967506 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:45967506G>A c.1334C>T c.(1333-1335)cCa>cTa p.P445L SKCM 11 45975105 45975105 + Silent SNP G G T TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr11:45975105G>T c.1065C>A c.(1063-1065)ccC>ccA p.P355P SKCM 11 45987052 45987052 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr11:45987052G>A c.807C>T c.(805-807)ttC>ttT p.F269F SKCM 11 45987070 45987070 + Silent SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr11:45987070G>A c.789C>T c.(787-789)ccC>ccT p.P263P SKCM 11 45987079 45987079 + Silent SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr11:45987079G>A c.780C>T c.(778-780)atC>atT p.I260I SKCM 11 45991416 45991416 + Missense_Mutation SNP G G T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 g.chr11:45991416G>T c.649C>A c.(649-651)Cag>Aag p.Q217K SKCM 11 46001479 46001479 + Silent SNP T T G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr11:46001479T>G c.192A>C c.(190-192)gtA>gtC p.V64V SKCM 11 46001496 46001496 + Missense_Mutation SNP G G A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 g.chr11:46001496G>A c.175C>T c.(175-177)Cgg>Tgg p.R59W

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 11 45946155 45946155 single base substitution C T downstream_gene_variant BLCA-CN 11 46100693 46100693 single base substitution C G exon_variant BLCA-CN 11 46100693 46100693 single base substitution C G missense_variant D27H 79G>C BLCA-CN 11 46100693 46100693 single base substitution C G missense_variant D4H 10G>C BLCA-CN 11 46100693 46100693 single base substitution C G synonymous_variant ?27 BOCA-FR 11 45955189 45955189 single base substitution C T 3_prime_UTR_variant BOCA-FR 11 45955189 45955189 single base substitution C T downstream_gene_variant BOCA-FR 11 45955189 45955189 single base substitution C T exon_variant BRCA-EU 11 45947981 45947981 single base substitution C T downstream_gene_variant BRCA-EU 11 45948549 45948549 single base substitution G A downstream_gene_variant BRCA-EU 11 45948911 45948911 single base substitution G A downstream_gene_variant BRCA-EU 11 45951898 45951899 deletion of <=200bp AG - 3_prime_UTR_variant BRCA-EU 11 45951898 45951899 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 11 45951898 45951899 deletion of <=200bp AG - exon_variant BRCA-EU 11 45953153 45953153 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 45953153 45953153 single base substitution C T downstream_gene_variant BRCA-EU 11 45953153 45953153 single base substitution C T exon_variant BRCA-EU 11 45954174 45954174 single base substitution T C 3_prime_UTR_variant BRCA-EU 11 45954174 45954174 single base substitution T C downstream_gene_variant BRCA-EU 11 45954174 45954174 single base substitution T C exon_variant BRCA-EU 11 45954179 45954179 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 11 45954179 45954179 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 45954179 45954179 deletion of <=200bp T - exon_variant BRCA-EU 11 45954357 45954357 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 45954357 45954357 single base substitution C T downstream_gene_variant BRCA-EU 11 45954357 45954357 single base substitution C T exon_variant BRCA-EU 11 45954585 45954585 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 45954585 45954585 single base substitution C G downstream_gene_variant BRCA-EU 11 45954585 45954585 single base substitution C G exon_variant BRCA-EU 11 45955678 45955678 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 45955678 45955678 single base substitution G A downstream_gene_variant BRCA-EU 11 45955678 45955678 single base substitution G A exon_variant BRCA-EU 11 45955678 45955678 single base substitution G A stop_gained R85* 253C>T BRCA-EU 11 45955678 45955678 single base substitution G A synonymous_variant I103I 309C>T BRCA-EU 11 45955678 45955678 single base substitution G A synonymous_variant I582I 1746C>T BRCA-EU 11 45955678 45955678 single base substitution G A synonymous_variant I628I 1884C>T BRCA-EU 11 45955678 45955678 single base substitution G A synonymous_variant I629I 1887C>T BRCA-EU 11 45958148 45958148 single base substitution G A downstream_gene_variant BRCA-EU 11 45958148 45958148 single base substitution G A exon_variant BRCA-EU 11 45958148 45958148 single base substitution G A intron_variant BRCA-EU 11 45958148 45958148 single base substitution G A upstream_gene_variant BRCA-EU 11 45958283 45958283 single base substitution T G downstream_gene_variant BRCA-EU 11 45958283 45958283 single base substitution T G exon_variant BRCA-EU 11 45958283 45958283 single base substitution T G intron_variant BRCA-EU 11 45958283 45958283 single base substitution T G upstream_gene_variant BRCA-EU 11 45959282 45959282 single base substitution T G downstream_gene_variant BRCA-EU 11 45959282 45959282 single base substitution T G intron_variant BRCA-EU 11 45959282 45959282 single base substitution T G upstream_gene_variant BRCA-EU 11 45959509 45959509 single base substitution C A downstream_gene_variant BRCA-EU 11 45959509 45959509 single base substitution C A intron_variant BRCA-EU 11 45959509 45959509 single base substitution C A upstream_gene_variant BRCA-EU 11 45962660 45962660 deletion of <=200bp T - intron_variant BRCA-EU 11 45962660 45962660 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 45962668 45962668 single base substitution G A intron_variant BRCA-EU 11 45962668 45962668 single base substitution G A upstream_gene_variant BRCA-EU 11 45963437 45963437 single base substitution C T intron_variant BRCA-EU 11 45963437 45963437 single base substitution C T upstream_gene_variant BRCA-EU 11 45965740 45965740 single base substitution C G intron_variant BRCA-EU 11 45967390 45967390 single base substitution C T intron_variant BRCA-EU 11 45967390 45967390 single base substitution C T splice_donor_variant BRCA-EU 11 45967793 45967793 single base substitution G A intron_variant BRCA-EU 11 45967793 45967793 single base substitution G A upstream_gene_variant BRCA-EU 11 45967836 45967836 single base substitution G C intron_variant BRCA-EU 11 45967836 45967836 single base substitution G C upstream_gene_variant BRCA-EU 11 45968853 45968853 single base substitution C T intron_variant BRCA-EU 11 45968853 45968853 single base substitution C T upstream_gene_variant BRCA-EU 11 45968867 45968867 insertion of <=200bp - A intron_variant BRCA-EU 11 45968867 45968867 insertion of <=200bp - A upstream_gene_variant BRCA-EU 11 45968867 45968867 single base substitution A C intron_variant BRCA-EU 11 45968867 45968867 single base substitution A C upstream_gene_variant BRCA-EU 11 45970868 45970868 single base substitution C A intron_variant BRCA-EU 11 45970868 45970868 single base substitution C A upstream_gene_variant BRCA-EU 11 45971464 45971464 single base substitution C G intron_variant BRCA-EU 11 45971464 45971464 single base substitution C G upstream_gene_variant BRCA-EU 11 45971688 45971688 single base substitution C T intron_variant BRCA-EU 11 45971688 45971688 single base substitution C T upstream_gene_variant BRCA-EU 11 45971701 45971701 single base substitution C T intron_variant BRCA-EU 11 45971701 45971701 single base substitution C T upstream_gene_variant BRCA-EU 11 45972302 45972302 single base substitution C T intron_variant BRCA-EU 11 45972302 45972302 single base substitution C T upstream_gene_variant BRCA-EU 11 45973575 45973575 single base substitution C G intron_variant BRCA-EU 11 45973969 45973969 insertion of <=200bp - T intron_variant BRCA-EU 11 45974156 45974156 single base substitution C G intron_variant BRCA-EU 11 45976807 45976807 single base substitution G A intron_variant BRCA-EU 11 45976807 45976807 single base substitution G A upstream_gene_variant BRCA-EU 11 45979097 45979097 single base substitution A G intron_variant BRCA-EU 11 45979097 45979097 single base substitution A G upstream_gene_variant BRCA-EU 11 45979119 45979119 single base substitution A G intron_variant BRCA-EU 11 45979119 45979119 single base substitution A G upstream_gene_variant BRCA-EU 11 45981390 45981394 deletion of <=200bp CAACT - intron_variant BRCA-EU 11 45981444 45981444 single base substitution G T intron_variant BRCA-EU 11 45983906 45983906 single base substitution T C intron_variant BRCA-EU 11 45985663 45985663 single base substitution C A intron_variant BRCA-EU 11 45986914 45986914 single base substitution G A exon_variant BRCA-EU 11 45986914 45986914 single base substitution G A synonymous_variant L315L 945C>T BRCA-EU 11 45986914 45986914 single base substitution G A synonymous_variant L316L 948C>T BRCA-EU 11 45987155 45987155 single base substitution C A exon_variant BRCA-EU 11 45987155 45987155 single base substitution C A missense_variant R235L 704G>T BRCA-EU 11 45987155 45987155 single base substitution C A missense_variant R236L 707G>T BRCA-EU 11 45987155 45987155 single base substitution C A upstream_gene_variant BRCA-EU 11 45987370 45987370 single base substitution G C intron_variant BRCA-EU 11 45987370 45987370 single base substitution G C upstream_gene_variant BRCA-EU 11 45987928 45987928 single base substitution G A downstream_gene_variant BRCA-EU 11 45987928 45987928 single base substitution G A intron_variant BRCA-EU 11 45987928 45987928 single base substitution G A upstream_gene_variant BRCA-EU 11 45990639 45990639 single base substitution G A downstream_gene_variant BRCA-EU 11 45990639 45990639 single base substitution G A intron_variant BRCA-EU 11 45990639 45990639 single base substitution G A upstream_gene_variant BRCA-EU 11 45991199 45991199 single base substitution G A downstream_gene_variant BRCA-EU 11 45991199 45991199 single base substitution G A intron_variant BRCA-EU 11 45991199 45991199 single base substitution G A upstream_gene_variant BRCA-EU 11 45991264 45991264 single base substitution G C downstream_gene_variant BRCA-EU 11 45991264 45991264 single base substitution G C intron_variant BRCA-EU 11 45991264 45991264 single base substitution G C upstream_gene_variant BRCA-EU 11 45993548 45993548 single base substitution A G intron_variant BRCA-EU 11 45993548 45993548 single base substitution A G upstream_gene_variant BRCA-EU 11 45995300 45995314 deletion of <=200bp TCGATTTAAAGAACT - intron_variant BRCA-EU 11 45995300 45995314 deletion of <=200bp TCGATTTAAAGAACT - upstream_gene_variant BRCA-EU 11 45995519 45995519 single base substitution T A intron_variant BRCA-EU 11 45995519 45995519 single base substitution T A upstream_gene_variant BRCA-EU 11 45997225 45997225 single base substitution G A downstream_gene_variant BRCA-EU 11 45997225 45997225 single base substitution G A intron_variant BRCA-EU 11 45997225 45997225 single base substitution G A upstream_gene_variant BRCA-EU 11 45999484 45999484 single base substitution T C downstream_gene_variant BRCA-EU 11 45999484 45999484 single base substitution T C intron_variant BRCA-EU 11 46001990 46001990 single base substitution G C intron_variant BRCA-EU 11 46002414 46002414 single base substitution C T intron_variant BRCA-EU 11 46003389 46003389 single base substitution A T intron_variant BRCA-EU 11 46003617 46003617 single base substitution G A intron_variant BRCA-EU 11 46003887 46003887 single base substitution G A intron_variant BRCA-EU 11 46004043 46004043 single base substitution C G intron_variant BRCA-EU 11 46004082 46004085 deletion of <=200bp AATA - intron_variant BRCA-EU 11 46009564 46009564 single base substitution G A intron_variant BRCA-EU 11 46010293 46010293 single base substitution T C intron_variant BRCA-EU 11 46012359 46012359 single base substitution C A intron_variant BRCA-EU 11 46012782 46012782 single base substitution C T intron_variant BRCA-EU 11 46015743 46015743 single base substitution G A intron_variant BRCA-EU 11 46018838 46018838 deletion of <=200bp A - intron_variant BRCA-EU 11 46019759 46019759 single base substitution C T intron_variant BRCA-EU 11 46019855 46019855 single base substitution C T intron_variant BRCA-EU 11 46021147 46021147 insertion of <=200bp - A intron_variant BRCA-EU 11 46021563 46021563 single base substitution G C intron_variant BRCA-EU 11 46022988 46022988 single base substitution A G intron_variant BRCA-EU 11 46023676 46023676 single base substitution T C intron_variant BRCA-EU 11 46023949 46023949 single base substitution T C intron_variant BRCA-EU 11 46025279 46025279 single base substitution G C intron_variant BRCA-EU 11 46025950 46025950 single base substitution G C intron_variant BRCA-EU 11 46026971 46026971 single base substitution C G intron_variant BRCA-EU 11 46027985 46027985 single base substitution C G intron_variant BRCA-EU 11 46028017 46028017 single base substitution T C intron_variant BRCA-EU 11 46028219 46028230 deletion of <=200bp TACTACAATCTA - intron_variant BRCA-EU 11 46030173 46030173 single base substitution G A intron_variant BRCA-EU 11 46030594 46030594 single base substitution C T intron_variant BRCA-EU 11 46030834 46030834 single base substitution C T intron_variant BRCA-EU 11 46030960 46030960 single base substitution G C intron_variant BRCA-EU 11 46033326 46033326 single base substitution C A intron_variant BRCA-EU 11 46034385 46034385 single base substitution G T intron_variant BRCA-EU 11 46035294 46035294 single base substitution C G intron_variant BRCA-EU 11 46037655 46037655 single base substitution T C intron_variant BRCA-EU 11 46038774 46038774 single base substitution A G intron_variant BRCA-EU 11 46038852 46038852 single base substitution G C intron_variant BRCA-EU 11 46038904 46038904 single base substitution A T intron_variant BRCA-EU 11 46039049 46039049 single base substitution T C intron_variant BRCA-EU 11 46041476 46041476 single base substitution T G intron_variant BRCA-EU 11 46042117 46042117 single base substitution G A intron_variant BRCA-EU 11 46043202 46043202 single base substitution C T intron_variant BRCA-EU 11 46044343 46044343 insertion of <=200bp - T intron_variant BRCA-EU 11 46044993 46044993 single base substitution A C intron_variant BRCA-EU 11 46045096 46045096 single base substitution G A intron_variant BRCA-EU 11 46045305 46045305 single base substitution G A intron_variant BRCA-EU 11 46045735 46045735 single base substitution C G intron_variant BRCA-EU 11 46047613 46047613 single base substitution A C intron_variant BRCA-EU 11 46048450 46048450 single base substitution G C exon_variant BRCA-EU 11 46048450 46048450 single base substitution G C intron_variant BRCA-EU 11 46050925 46050925 single base substitution C G intron_variant BRCA-EU 11 46050925 46050925 single base substitution C G upstream_gene_variant BRCA-EU 11 46050964 46050964 single base substitution C T intron_variant BRCA-EU 11 46050964 46050964 single base substitution C T upstream_gene_variant BRCA-EU 11 46050976 46050976 single base substitution C T intron_variant BRCA-EU 11 46050976 46050976 single base substitution C T upstream_gene_variant BRCA-EU 11 46051532 46051532 single base substitution T A intron_variant BRCA-EU 11 46051532 46051532 single base substitution T A upstream_gene_variant BRCA-EU 11 46051645 46051645 single base substitution T C intron_variant BRCA-EU 11 46051645 46051645 single base substitution T C upstream_gene_variant BRCA-EU 11 46053194 46053194 single base substitution T C intron_variant BRCA-EU 11 46053194 46053194 single base substitution T C upstream_gene_variant BRCA-EU 11 46053721 46053721 single base substitution C G intron_variant BRCA-EU 11 46054681 46054681 single base substitution C T intron_variant BRCA-EU 11 46054953 46054953 single base substitution C G intron_variant BRCA-EU 11 46055048 46055048 single base substitution C G intron_variant BRCA-EU 11 46055735 46055735 single base substitution T C intron_variant BRCA-EU 11 46057547 46057547 single base substitution C T intron_variant BRCA-EU 11 46057667 46057667 single base substitution G C intron_variant BRCA-EU 11 46057694 46057694 single base substitution C T intron_variant BRCA-EU 11 46058020 46058020 single base substitution G A intron_variant BRCA-EU 11 46058057 46058057 single base substitution T C intron_variant BRCA-EU 11 46058434 46058434 single base substitution T A intron_variant BRCA-EU 11 46059679 46059679 single base substitution C T intron_variant BRCA-EU 11 46059705 46059705 deletion of <=200bp T - intron_variant BRCA-EU 11 46060643 46060643 single base substitution G A intron_variant BRCA-EU 11 46061248 46061248 single base substitution C T intron_variant BRCA-EU 11 46061343 46061343 single base substitution C G intron_variant BRCA-EU 11 46062753 46062753 single base substitution T C intron_variant BRCA-EU 11 46063875 46063875 single base substitution G A intron_variant BRCA-EU 11 46064411 46064411 single base substitution G A intron_variant BRCA-EU 11 46064708 46064708 single base substitution G C intron_variant BRCA-EU 11 46065016 46065016 single base substitution G C intron_variant BRCA-EU 11 46065241 46065241 single base substitution T C intron_variant BRCA-EU 11 46065700 46065700 single base substitution G C intron_variant BRCA-EU 11 46065855 46065855 single base substitution A G intron_variant BRCA-EU 11 46066009 46066009 single base substitution C T intron_variant BRCA-EU 11 46069791 46069791 insertion of <=200bp - A intron_variant BRCA-EU 11 46070348 46070348 single base substitution G A intron_variant BRCA-EU 11 46070857 46070857 single base substitution G C intron_variant BRCA-EU 11 46071553 46071554 deletion of <=200bp TC - intron_variant BRCA-EU 11 46073450 46073450 single base substitution A G intron_variant BRCA-EU 11 46074015 46074015 single base substitution C A intron_variant BRCA-EU 11 46074071 46074071 single base substitution G C intron_variant BRCA-EU 11 46076074 46076074 single base substitution T C intron_variant BRCA-EU 11 46076138 46076138 single base substitution T C intron_variant BRCA-EU 11 46076355 46076355 single base substitution G C intron_variant BRCA-EU 11 46076796 46076796 insertion of <=200bp - T intron_variant BRCA-EU 11 46076957 46076957 single base substitution T C intron_variant BRCA-EU 11 46081436 46081436 single base substitution C A intron_variant BRCA-EU 11 46085306 46085306 deletion of <=200bp T - intron_variant BRCA-EU 11 46089016 46089016 single base substitution C G intron_variant BRCA-EU 11 46089240 46089240 single base substitution G A intron_variant BRCA-EU 11 46089810 46089810 single base substitution T G intron_variant BRCA-EU 11 46090295 46090295 single base substitution G C intron_variant BRCA-EU 11 46090983 46090983 single base substitution A G intron_variant BRCA-EU 11 46091188 46091188 single base substitution G C intron_variant BRCA-EU 11 46091973 46091973 single base substitution C T intron_variant BRCA-EU 11 46093317 46093317 single base substitution G C downstream_gene_variant BRCA-EU 11 46093317 46093317 single base substitution G C intron_variant BRCA-EU 11 46094433 46094433 single base substitution T C downstream_gene_variant BRCA-EU 11 46094433 46094433 single base substitution T C intron_variant BRCA-EU 11 46094496 46094496 single base substitution T A downstream_gene_variant BRCA-EU 11 46094496 46094496 single base substitution T A intron_variant BRCA-EU 11 46095359 46095359 single base substitution T C downstream_gene_variant BRCA-EU 11 46095359 46095359 single base substitution T C intron_variant BRCA-EU 11 46097542 46097542 single base substitution G A downstream_gene_variant BRCA-EU 11 46097542 46097542 single base substitution G A intron_variant BRCA-EU 11 46099320 46099320 single base substitution T C downstream_gene_variant BRCA-EU 11 46099320 46099320 single base substitution T C intron_variant BRCA-EU 11 46100297 46100297 single base substitution C G downstream_gene_variant BRCA-EU 11 46100297 46100297 single base substitution C G intron_variant BRCA-EU 11 46101110 46101110 single base substitution C A downstream_gene_variant BRCA-EU 11 46101110 46101110 single base substitution C A intron_variant BRCA-EU 11 46101719 46101719 insertion of <=200bp - T downstream_gene_variant BRCA-EU 11 46101719 46101719 insertion of <=200bp - T intron_variant BRCA-EU 11 46101754 46101754 single base substitution G A downstream_gene_variant BRCA-EU 11 46101754 46101754 single base substitution G A intron_variant BRCA-EU 11 46107116 46107116 single base substitution T A downstream_gene_variant BRCA-EU 11 46107116 46107116 single base substitution T A intron_variant BRCA-EU 11 46107912 46107912 single base substitution C T downstream_gene_variant BRCA-EU 11 46107912 46107912 single base substitution C T intron_variant BRCA-EU 11 46107961 46107961 single base substitution C T downstream_gene_variant BRCA-EU 11 46107961 46107961 single base substitution C T intron_variant BRCA-EU 11 46110516 46110516 single base substitution G C downstream_gene_variant BRCA-EU 11 46110516 46110516 single base substitution G C intron_variant BRCA-EU 11 46110537 46110537 single base substitution C A downstream_gene_variant BRCA-EU 11 46110537 46110537 single base substitution C A intron_variant BRCA-EU 11 46113274 46113274 deletion of <=200bp T - intron_variant BRCA-EU 11 46113791 46113791 single base substitution G T intron_variant BRCA-EU 11 46113791 46113791 single base substitution G T upstream_gene_variant BRCA-EU 11 46116226 46116226 single base substitution G A intron_variant BRCA-EU 11 46116226 46116226 single base substitution G A upstream_gene_variant BRCA-EU 11 46116314 46116314 single base substitution G C intron_variant BRCA-EU 11 46116314 46116314 single base substitution G C upstream_gene_variant BRCA-EU 11 46116405 46116405 single base substitution C T intron_variant BRCA-EU 11 46116405 46116405 single base substitution C T upstream_gene_variant BRCA-EU 11 46116418 46116418 single base substitution T C intron_variant BRCA-EU 11 46116418 46116418 single base substitution T C upstream_gene_variant BRCA-EU 11 46116608 46116608 single base substitution C A intron_variant BRCA-EU 11 46116608 46116608 single base substitution C A upstream_gene_variant BRCA-EU 11 46117710 46117710 single base substitution C G intron_variant BRCA-EU 11 46117710 46117710 single base substitution C G upstream_gene_variant BRCA-EU 11 46118005 46118005 single base substitution C T intron_variant BRCA-EU 11 46118005 46118005 single base substitution C T upstream_gene_variant BRCA-EU 11 46119338 46119338 single base substitution C T intron_variant BRCA-EU 11 46120338 46120338 single base substitution G A intron_variant BRCA-EU 11 46120416 46120416 single base substitution C G intron_variant BRCA-EU 11 46120859 46120859 single base substitution C A intron_variant BRCA-EU 11 46121632 46121632 single base substitution A T intron_variant BRCA-EU 11 46121656 46121656 single base substitution A C intron_variant BRCA-EU 11 46123069 46123069 single base substitution A C intron_variant BRCA-EU 11 46123789 46123789 single base substitution T A intron_variant BRCA-EU 11 46125301 46125301 insertion of <=200bp - A intron_variant BRCA-EU 11 46125861 46125861 single base substitution G C intron_variant BRCA-EU 11 46127167 46127167 deletion of <=200bp A - intron_variant BRCA-EU 11 46127868 46127868 deletion of <=200bp G - intron_variant BRCA-EU 11 46128182 46128182 single base substitution T C intron_variant BRCA-EU 11 46129872 46129872 deletion of <=200bp T - intron_variant BRCA-EU 11 46129892 46129892 single base substitution A G intron_variant BRCA-EU 11 46130358 46130358 deletion of <=200bp A - intron_variant BRCA-EU 11 46130588 46130588 single base substitution C G intron_variant BRCA-EU 11 46134308 46134308 single base substitution A T intron_variant BRCA-EU 11 46134383 46134383 single base substitution C T intron_variant BRCA-EU 11 46134865 46134865 single base substitution A G intron_variant BRCA-EU 11 46135656 46135656 insertion of <=200bp - AT intron_variant BRCA-EU 11 46137445 46137445 single base substitution C G downstream_gene_variant BRCA-EU 11 46137445 46137445 single base substitution C G intron_variant BRCA-EU 11 46137706 46137706 single base substitution G A downstream_gene_variant BRCA-EU 11 46137706 46137706 single base substitution G A intron_variant BRCA-EU 11 46139412 46139412 single base substitution C G downstream_gene_variant BRCA-EU 11 46139412 46139412 single base substitution C G intron_variant BRCA-EU 11 46139432 46139432 single base substitution A G downstream_gene_variant BRCA-EU 11 46139432 46139432 single base substitution A G intron_variant BRCA-EU 11 46141798 46141798 single base substitution T A downstream_gene_variant BRCA-EU 11 46141798 46141798 single base substitution T A intron_variant BRCA-EU 11 46141798 46141798 single base substitution T A upstream_gene_variant BRCA-EU 11 46142516 46142516 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 46142516 46142516 single base substitution G A exon_variant BRCA-EU 11 46142516 46142516 single base substitution G A upstream_gene_variant BRCA-EU 11 46142902 46142902 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 46142902 46142902 single base substitution G C upstream_gene_variant BRCA-EU 11 46143439 46143439 single base substitution C T upstream_gene_variant BRCA-EU 11 46144377 46144377 single base substitution G C upstream_gene_variant BRCA-EU 11 46145920 46145920 single base substitution G A upstream_gene_variant BRCA-EU 11 46145922 46145922 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 46146197 46146197 single base substitution C T upstream_gene_variant BRCA-EU 11 46147613 46147613 single base substitution G C upstream_gene_variant BRCA-FR 11 45967836 45967836 single base substitution G C intron_variant BRCA-FR 11 45967836 45967836 single base substitution G C upstream_gene_variant BRCA-FR 11 45971688 45971688 single base substitution C T intron_variant BRCA-FR 11 45971688 45971688 single base substitution C T upstream_gene_variant BRCA-FR 11 45971701 45971701 single base substitution C T intron_variant BRCA-FR 11 45971701 45971701 single base substitution C T upstream_gene_variant BRCA-FR 11 45972302 45972302 single base substitution C T intron_variant BRCA-FR 11 45972302 45972302 single base substitution C T upstream_gene_variant BRCA-FR 11 45973575 45973575 single base substitution C G intron_variant BRCA-FR 11 45986769 45986769 single base substitution G A intron_variant BRCA-FR 11 46005058 46005058 single base substitution T A intron_variant BRCA-FR 11 46021563 46021563 single base substitution G C intron_variant BRCA-FR 11 46026971 46026971 single base substitution C G intron_variant BRCA-FR 11 46027985 46027985 single base substitution C G intron_variant BRCA-FR 11 46030960 46030960 single base substitution G C intron_variant BRCA-FR 11 46039134 46039134 single base substitution A G intron_variant BRCA-FR 11 46043202 46043202 single base substitution C T intron_variant BRCA-FR 11 46048450 46048450 single base substitution G C exon_variant BRCA-FR 11 46048450 46048450 single base substitution G C intron_variant BRCA-FR 11 46061248 46061248 single base substitution C T intron_variant BRCA-FR 11 46061343 46061343 single base substitution C G intron_variant BRCA-FR 11 46074071 46074071 single base substitution G C intron_variant BRCA-FR 11 46087818 46087818 single base substitution G A intron_variant BRCA-FR 11 46110516 46110516 single base substitution G C downstream_gene_variant BRCA-FR 11 46110516 46110516 single base substitution G C intron_variant BRCA-FR 11 46118005 46118005 single base substitution C T intron_variant BRCA-FR 11 46118005 46118005 single base substitution C T upstream_gene_variant BRCA-FR 11 46130588 46130588 single base substitution C G intron_variant BRCA-FR 11 46137706 46137706 single base substitution G A downstream_gene_variant BRCA-FR 11 46137706 46137706 single base substitution G A intron_variant BRCA-FR 11 46139412 46139412 single base substitution C G downstream_gene_variant BRCA-FR 11 46139412 46139412 single base substitution C G intron_variant BRCA-FR 11 46141798 46141798 single base substitution T A downstream_gene_variant BRCA-FR 11 46141798 46141798 single base substitution T A intron_variant BRCA-FR 11 46141798 46141798 single base substitution T A upstream_gene_variant BRCA-UK 11 45950185 45950185 single base substitution A G downstream_gene_variant BRCA-UK 11 45961203 45961203 single base substitution C A intron_variant BRCA-UK 11 45961203 45961203 single base substitution C A upstream_gene_variant BRCA-UK 11 45964229 45964229 single base substitution G A intron_variant BRCA-UK 11 45964229 45964229 single base substitution G A upstream_gene_variant BRCA-UK 11 45989289 45989289 single base substitution G A downstream_gene_variant BRCA-UK 11 45989289 45989289 single base substitution G A intron_variant BRCA-UK 11 45989289 45989289 single base substitution G A upstream_gene_variant BRCA-UK 11 46031247 46031247 single base substitution G A intron_variant BRCA-UK 11 46057667 46057667 single base substitution G C intron_variant BRCA-UK 11 46071553 46071554 deletion of <=200bp TC - intron_variant BRCA-UK 11 46076804 46076804 insertion of <=200bp - T intron_variant BRCA-US 11 45948372 45948372 insertion of <=200bp - C downstream_gene_variant BRCA-US 11 45967433 45967433 single base substitution T G exon_variant BRCA-US 11 45967433 45967433 single base substitution T G intron_variant BRCA-US 11 45967433 45967433 single base substitution T G synonymous_variant A469A 1407A>C BRCA-US 11 45967433 45967433 single base substitution T G synonymous_variant A470A 1410A>C BRCA-US 11 45967433 45967433 single base substitution T G upstream_gene_variant BRCA-US 11 45986874 45986874 single base substitution C G exon_variant BRCA-US 11 45986874 45986874 single base substitution C G missense_variant E329Q 985G>C BRCA-US 11 45986874 45986874 single base substitution C G missense_variant E330Q 988G>C BTCA-JP 11 45948157 45948157 single base substitution G A downstream_gene_variant BTCA-JP 11 45948373 45948373 deletion of <=200bp C - downstream_gene_variant BTCA-JP 11 45949285 45949285 single base substitution C T downstream_gene_variant BTCA-JP 11 45949742 45949742 single base substitution C T downstream_gene_variant BTCA-JP 11 45950277 45950277 single base substitution C T downstream_gene_variant BTCA-JP 11 45971093 45971093 single base substitution T G intron_variant BTCA-JP 11 45971093 45971093 single base substitution T G upstream_gene_variant BTCA-JP 11 45974996 45974996 single base substitution C T intron_variant BTCA-JP 11 45975138 45975141 deletion of <=200bp TGTT - exon_variant BTCA-JP 11 45975138 45975141 deletion of <=200bp TGTT - frameshift_variant QT343 BTCA-JP 11 45975138 45975141 deletion of <=200bp TGTT - frameshift_variant QT344 BTCA-JP 11 45987189 45987189 single base substitution A T intron_variant BTCA-JP 11 45987189 45987189 single base substitution A T upstream_gene_variant BTCA-JP 11 46001314 46001314 single base substitution T A 3_prime_UTR_variant BTCA-JP 11 46001314 46001314 single base substitution T A downstream_gene_variant BTCA-JP 11 46001314 46001314 single base substitution T A exon_variant BTCA-JP 11 46001314 46001314 single base substitution T A synonymous_variant S119S 357A>T BTCA-JP 11 46001314 46001314 single base substitution T A synonymous_variant S126S 378A>T BTCA-JP 11 46100629 46100629 single base substitution T G downstream_gene_variant BTCA-JP 11 46100629 46100629 single base substitution T G intron_variant BTCA-JP 11 46100816 46100816 deletion of <=200bp A - downstream_gene_variant BTCA-JP 11 46100816 46100816 deletion of <=200bp A - intron_variant CESC-US 11 45948919 45948919 single base substitution C T downstream_gene_variant CESC-US 11 45948953 45948953 single base substitution C A downstream_gene_variant CESC-US 11 45949830 45949830 single base substitution C T downstream_gene_variant CESC-US 11 45955550 45955550 single base substitution G A 3_prime_UTR_variant CESC-US 11 45955550 45955550 single base substitution G A downstream_gene_variant CESC-US 11 45955550 45955550 single base substitution G A exon_variant CESC-US 11 45955550 45955550 single base substitution G A missense_variant A146V 437C>T CESC-US 11 45955550 45955550 single base substitution G A missense_variant A625V 1874C>T CESC-US 11 45955550 45955550 single base substitution G A missense_variant A671V 2012C>T CESC-US 11 45955550 45955550 single base substitution G A missense_variant A672V 2015C>T CESC-US 11 45975137 45975137 single base substitution C T exon_variant CESC-US 11 45975137 45975137 single base substitution C T missense_variant E345K 1033G>A CESC-US 11 45975137 45975137 single base substitution C T missense_variant E346K 1036G>A CESC-US 11 45992778 45992778 single base substitution A G 3_prime_UTR_variant CESC-US 11 45992778 45992778 single base substitution A G downstream_gene_variant CESC-US 11 45992778 45992778 single base substitution A G exon_variant CESC-US 11 45992778 45992778 single base substitution A G synonymous_variant A167A 501T>C CESC-US 11 45992865 45992865 single base substitution C T 3_prime_UTR_variant CESC-US 11 45992865 45992865 single base substitution C T downstream_gene_variant CESC-US 11 45992865 45992865 single base substitution C T exon_variant CESC-US 11 45992865 45992865 single base substitution C T synonymous_variant L138L 414G>A CLLE-ES 11 45954087 45954087 single base substitution C G 3_prime_UTR_variant CLLE-ES 11 45954087 45954087 single base substitution C G downstream_gene_variant CLLE-ES 11 45954087 45954087 single base substitution C G exon_variant CLLE-ES 11 45955115 45955115 single base substitution G C 3_prime_UTR_variant CLLE-ES 11 45955115 45955115 single base substitution G C downstream_gene_variant CLLE-ES 11 45955115 45955115 single base substitution G C exon_variant CLLE-ES 11 45962414 45962414 single base substitution G A intron_variant CLLE-ES 11 45962414 45962414 single base substitution G A upstream_gene_variant CLLE-ES 11 46028641 46028641 single base substitution C G intron_variant CLLE-ES 11 46037166 46037166 single base substitution T C intron_variant CLLE-ES 11 46043201 46043201 single base substitution T A intron_variant CLLE-ES 11 46060200 46060200 single base substitution G A intron_variant CLLE-ES 11 46073329 46073329 single base substitution G A intron_variant CLLE-ES 11 46087230 46087230 single base substitution C G intron_variant CLLE-ES 11 46088272 46088272 single base substitution T C intron_variant CLLE-ES 11 46105696 46105696 single base substitution G A downstream_gene_variant CLLE-ES 11 46105696 46105696 single base substitution G A intron_variant CLLE-ES 11 46134132 46134132 single base substitution T C intron_variant CLLE-ES 11 46139969 46139969 single base substitution A T downstream_gene_variant CLLE-ES 11 46139969 46139969 single base substitution A T intron_variant CLLE-ES 11 46145581 46145581 single base substitution G T upstream_gene_variant COAD-US 11 45946372 45946372 single base substitution A G downstream_gene_variant COAD-US 11 45947613 45947613 single base substitution C T downstream_gene_variant COAD-US 11 45948338 45948338 single base substitution G A downstream_gene_variant COAD-US 11 45948373 45948373 deletion of <=200bp C - downstream_gene_variant COAD-US 11 45955607 45955607 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 11 45955607 45955607 deletion of <=200bp G - downstream_gene_variant COAD-US 11 45955607 45955607 deletion of <=200bp G - exon_variant COAD-US 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P127 COAD-US 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P606 COAD-US 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P652 COAD-US 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P653 COAD-US 11 45959805 45959805 single base substitution C T exon_variant COAD-US 11 45959805 45959805 single base substitution C T intron_variant COAD-US 11 45959805 45959805 single base substitution C T missense_variant C457Y 1370G>A COAD-US 11 45959805 45959805 single base substitution C T missense_variant C503Y 1508G>A COAD-US 11 45959805 45959805 single base substitution C T missense_variant C504Y 1511G>A COAD-US 11 45959805 45959805 single base substitution C T upstream_gene_variant COAD-US 11 45975130 45975130 single base substitution C T exon_variant COAD-US 11 45975130 45975130 single base substitution C T missense_variant R347H 1040G>A COAD-US 11 45975130 45975130 single base substitution C T missense_variant R348H 1043G>A COAD-US 11 45992680 45992680 deletion of <=200bp T - downstream_gene_variant COAD-US 11 45992680 45992680 deletion of <=200bp T - exon_variant COAD-US 11 45992680 45992680 deletion of <=200bp T - frameshift_variant N200 COAD-US 11 45992871 45992871 single base substitution G A 3_prime_UTR_variant COAD-US 11 45992871 45992871 single base substitution G A downstream_gene_variant COAD-US 11 45992871 45992871 single base substitution G A exon_variant COAD-US 11 45992871 45992871 single base substitution G A synonymous_variant L136L 408C>T COCA-CN 11 45948821 45948821 single base substitution C A downstream_gene_variant COCA-CN 11 45948963 45948963 single base substitution G A downstream_gene_variant COCA-CN 11 45949764 45949764 single base substitution C T downstream_gene_variant COCA-CN 11 45950303 45950303 single base substitution C T downstream_gene_variant COCA-CN 11 45956723 45956723 single base substitution C T 3_prime_UTR_variant COCA-CN 11 45956723 45956723 single base substitution C T downstream_gene_variant COCA-CN 11 45956723 45956723 single base substitution C T exon_variant COCA-CN 11 45956723 45956723 single base substitution C T intron_variant COCA-CN 11 45958136 45958136 single base substitution G T downstream_gene_variant COCA-CN 11 45958136 45958136 single base substitution G T exon_variant COCA-CN 11 45958136 45958136 single base substitution G T intron_variant COCA-CN 11 45958136 45958136 single base substitution G T upstream_gene_variant COCA-CN 11 45959971 45959971 single base substitution C T intron_variant COCA-CN 11 45959971 45959971 single base substitution C T upstream_gene_variant COCA-CN 11 45967724 45967724 single base substitution G T intron_variant COCA-CN 11 45967724 45967724 single base substitution G T upstream_gene_variant COCA-CN 11 45971789 45971789 single base substitution G T exon_variant COCA-CN 11 45971789 45971789 single base substitution G T missense_variant S371Y 1112C>A COCA-CN 11 45971789 45971789 single base substitution G T missense_variant S372Y 1115C>A COCA-CN 11 45971789 45971789 single base substitution G T upstream_gene_variant COCA-CN 11 45971940 45971940 single base substitution C A intron_variant COCA-CN 11 45971940 45971940 single base substitution C A upstream_gene_variant COCA-CN 11 45987748 45987748 single base substitution C T downstream_gene_variant COCA-CN 11 45987748 45987748 single base substitution C T intron_variant COCA-CN 11 45987748 45987748 single base substitution C T upstream_gene_variant COCA-CN 11 45988935 45988935 single base substitution A T downstream_gene_variant COCA-CN 11 45988935 45988935 single base substitution A T intron_variant COCA-CN 11 45988935 45988935 single base substitution A T upstream_gene_variant COCA-CN 11 45993437 45993437 single base substitution C T intron_variant COCA-CN 11 45993437 45993437 single base substitution C T upstream_gene_variant COCA-CN 11 45996908 45996908 single base substitution T C downstream_gene_variant COCA-CN 11 45996908 45996908 single base substitution T C intron_variant COCA-CN 11 45996908 45996908 single base substitution T C upstream_gene_variant COCA-CN 11 45996913 45996913 single base substitution T C downstream_gene_variant COCA-CN 11 45996913 45996913 single base substitution T C intron_variant COCA-CN 11 45996913 45996913 single base substitution T C upstream_gene_variant COCA-CN 11 45996918 45996918 single base substitution T C downstream_gene_variant COCA-CN 11 45996918 45996918 single base substitution T C intron_variant COCA-CN 11 45996918 45996918 single base substitution T C upstream_gene_variant COCA-CN 11 46001491 46001491 single base substitution C A 3_prime_UTR_variant COCA-CN 11 46001491 46001491 single base substitution C A exon_variant COCA-CN 11 46001491 46001491 single base substitution C A missense_variant K37N 111G>T COCA-CN 11 46001491 46001491 single base substitution C A missense_variant K60N 180G>T COCA-CN 11 46001491 46001491 single base substitution C A missense_variant K67N 201G>T COCA-CN 11 46002954 46002954 single base substitution A C intron_variant COCA-CN 11 46010142 46010142 single base substitution G C intron_variant COCA-CN 11 46013802 46013802 single base substitution A G intron_variant COCA-CN 11 46024783 46024783 single base substitution C T intron_variant COCA-CN 11 46027968 46027968 single base substitution C A intron_variant COCA-CN 11 46045616 46045616 single base substitution G A intron_variant COCA-CN 11 46123497 46123497 single base substitution C T intron_variant EOPC-DE 11 45997585 45997585 single base substitution G A downstream_gene_variant EOPC-DE 11 45997585 45997585 single base substitution G A intron_variant EOPC-DE 11 45997585 45997585 single base substitution G A upstream_gene_variant EOPC-DE 11 46024374 46024374 single base substitution G A intron_variant EOPC-DE 11 46139374 46139374 single base substitution C T downstream_gene_variant EOPC-DE 11 46139374 46139374 single base substitution C T intron_variant ESAD-UK 11 45947614 45947614 single base substitution G A downstream_gene_variant ESAD-UK 11 45949193 45949193 single base substitution G A downstream_gene_variant ESAD-UK 11 45952311 45952311 single base substitution A G 3_prime_UTR_variant ESAD-UK 11 45952311 45952311 single base substitution A G downstream_gene_variant ESAD-UK 11 45952311 45952311 single base substitution A G exon_variant ESAD-UK 11 45955522 45955522 single base substitution T C 3_prime_UTR_variant ESAD-UK 11 45955522 45955522 single base substitution T C downstream_gene_variant ESAD-UK 11 45955522 45955522 single base substitution T C exon_variant ESAD-UK 11 45955522 45955522 single base substitution T C synonymous_variant K634K 1902A>G ESAD-UK 11 45955522 45955522 single base substitution T C synonymous_variant K680K 2040A>G ESAD-UK 11 45955522 45955522 single base substitution T C synonymous_variant K681K 2043A>G ESAD-UK 11 45955606 45955606 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 11 45955606 45955606 deletion of <=200bp A - downstream_gene_variant ESAD-UK 11 45955606 45955606 deletion of <=200bp A - exon_variant ESAD-UK 11 45955606 45955606 deletion of <=200bp A - frameshift_variant P127 ESAD-UK 11 45955606 45955606 deletion of <=200bp A - frameshift_variant P606 ESAD-UK 11 45955606 45955606 deletion of <=200bp A - frameshift_variant P652 ESAD-UK 11 45955606 45955606 deletion of <=200bp A - frameshift_variant P653 ESAD-UK 11 45959468 45959468 single base substitution A G downstream_gene_variant ESAD-UK 11 45959468 45959468 single base substitution A G intron_variant ESAD-UK 11 45959468 45959468 single base substitution A G upstream_gene_variant ESAD-UK 11 45961870 45961870 single base substitution C A intron_variant ESAD-UK 11 45961870 45961870 single base substitution C A upstream_gene_variant ESAD-UK 11 45961892 45961892 single base substitution G A intron_variant ESAD-UK 11 45961892 45961892 single base substitution G A upstream_gene_variant ESAD-UK 11 45962660 45962660 deletion of <=200bp T - intron_variant ESAD-UK 11 45962660 45962660 deletion of <=200bp T - upstream_gene_variant ESAD-UK 11 45963430 45963430 single base substitution G A intron_variant ESAD-UK 11 45963430 45963430 single base substitution G A upstream_gene_variant ESAD-UK 11 45964334 45964334 single base substitution G A intron_variant ESAD-UK 11 45964334 45964334 single base substitution G A upstream_gene_variant ESAD-UK 11 45965442 45965442 single base substitution A G intron_variant ESAD-UK 11 45965678 45965678 single base substitution T C intron_variant ESAD-UK 11 45966730 45966730 single base substitution C A intron_variant ESAD-UK 11 45970121 45970121 single base substitution T A intron_variant ESAD-UK 11 45970121 45970121 single base substitution T A upstream_gene_variant ESAD-UK 11 45970676 45970676 single base substitution C G intron_variant ESAD-UK 11 45970676 45970676 single base substitution C G upstream_gene_variant ESAD-UK 11 45970768 45970768 single base substitution A G intron_variant ESAD-UK 11 45970768 45970768 single base substitution A G upstream_gene_variant ESAD-UK 11 45972799 45972799 single base substitution T C intron_variant ESAD-UK 11 45973330 45973330 insertion of <=200bp - A intron_variant ESAD-UK 11 45973563 45973563 single base substitution C A intron_variant ESAD-UK 11 45973647 45973647 single base substitution C T intron_variant ESAD-UK 11 45973843 45973843 single base substitution A T intron_variant ESAD-UK 11 45979522 45979522 single base substitution T C intron_variant ESAD-UK 11 45979522 45979522 single base substitution T C upstream_gene_variant ESAD-UK 11 45979667 45979667 single base substitution A G intron_variant ESAD-UK 11 45979667 45979667 single base substitution A G upstream_gene_variant ESAD-UK 11 45982304 45982304 single base substitution G T intron_variant ESAD-UK 11 45984669 45984669 single base substitution G A intron_variant ESAD-UK 11 45984872 45984872 single base substitution G A intron_variant ESAD-UK 11 45985009 45985009 deletion of <=200bp T - intron_variant ESAD-UK 11 45986632 45986632 single base substitution A G intron_variant ESAD-UK 11 45987649 45987649 insertion of <=200bp - T intron_variant ESAD-UK 11 45987649 45987649 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 45988526 45988526 single base substitution C A downstream_gene_variant ESAD-UK 11 45988526 45988526 single base substitution C A intron_variant ESAD-UK 11 45988526 45988526 single base substitution C A upstream_gene_variant ESAD-UK 11 45988706 45988706 single base substitution G A downstream_gene_variant ESAD-UK 11 45988706 45988706 single base substitution G A intron_variant ESAD-UK 11 45988706 45988706 single base substitution G A upstream_gene_variant ESAD-UK 11 45988853 45988853 single base substitution A G downstream_gene_variant ESAD-UK 11 45988853 45988853 single base substitution A G intron_variant ESAD-UK 11 45988853 45988853 single base substitution A G upstream_gene_variant ESAD-UK 11 45991572 45991572 single base substitution G A downstream_gene_variant ESAD-UK 11 45991572 45991572 single base substitution G A exon_variant ESAD-UK 11 45991572 45991572 single base substitution G A intron_variant ESAD-UK 11 45991572 45991572 single base substitution G A upstream_gene_variant ESAD-UK 11 45993553 45993553 single base substitution C T intron_variant ESAD-UK 11 45993553 45993553 single base substitution C T upstream_gene_variant ESAD-UK 11 45995422 45995422 single base substitution G A intron_variant ESAD-UK 11 45995422 45995422 single base substitution G A upstream_gene_variant ESAD-UK 11 45996357 45996357 single base substitution C G intron_variant ESAD-UK 11 45996357 45996357 single base substitution C G upstream_gene_variant ESAD-UK 11 45998452 45998452 single base substitution C A downstream_gene_variant ESAD-UK 11 45998452 45998452 single base substitution C A intron_variant ESAD-UK 11 45999039 45999039 single base substitution G A downstream_gene_variant ESAD-UK 11 45999039 45999039 single base substitution G A intron_variant ESAD-UK 11 45999406 45999406 single base substitution T G downstream_gene_variant ESAD-UK 11 45999406 45999406 single base substitution T G intron_variant ESAD-UK 11 45999802 45999802 single base substitution A G downstream_gene_variant ESAD-UK 11 45999802 45999802 single base substitution A G intron_variant ESAD-UK 11 46000113 46000113 single base substitution C A downstream_gene_variant ESAD-UK 11 46000113 46000113 single base substitution C A intron_variant ESAD-UK 11 46002859 46002859 single base substitution C T intron_variant ESAD-UK 11 46003967 46003967 single base substitution A C intron_variant ESAD-UK 11 46004650 46004650 single base substitution A G intron_variant ESAD-UK 11 46008992 46008992 single base substitution C T intron_variant ESAD-UK 11 46009511 46009511 single base substitution A C intron_variant ESAD-UK 11 46013625 46013625 single base substitution G A intron_variant ESAD-UK 11 46015448 46015448 single base substitution A C intron_variant ESAD-UK 11 46015846 46015846 single base substitution A T intron_variant ESAD-UK 11 46017478 46017478 single base substitution C T intron_variant ESAD-UK 11 46017486 46017486 single base substitution A T intron_variant ESAD-UK 11 46018877 46018877 single base substitution T G intron_variant ESAD-UK 11 46020545 46020545 single base substitution T C intron_variant ESAD-UK 11 46021045 46021045 single base substitution G C intron_variant ESAD-UK 11 46021119 46021119 single base substitution G C intron_variant ESAD-UK 11 46022476 46022479 deletion of <=200bp AAAT - intron_variant ESAD-UK 11 46023563 46023563 single base substitution G A intron_variant ESAD-UK 11 46024003 46024003 single base substitution A G intron_variant ESAD-UK 11 46025446 46025446 single base substitution A C intron_variant ESAD-UK 11 46025636 46025636 single base substitution C T intron_variant ESAD-UK 11 46026746 46026746 single base substitution G A intron_variant ESAD-UK 11 46032665 46032665 single base substitution C T intron_variant ESAD-UK 11 46034324 46034324 single base substitution C A intron_variant ESAD-UK 11 46039134 46039134 single base substitution A G intron_variant ESAD-UK 11 46040443 46040443 single base substitution C A intron_variant ESAD-UK 11 46042244 46042244 single base substitution C T intron_variant ESAD-UK 11 46043051 46043051 single base substitution C A intron_variant ESAD-UK 11 46044296 46044296 single base substitution C T intron_variant ESAD-UK 11 46044780 46044780 single base substitution G A intron_variant ESAD-UK 11 46044903 46044903 single base substitution G T intron_variant ESAD-UK 11 46045196 46045196 single base substitution C T intron_variant ESAD-UK 11 46046740 46046740 single base substitution A T intron_variant ESAD-UK 11 46048276 46048276 single base substitution C A intron_variant ESAD-UK 11 46049413 46049413 single base substitution A C intron_variant ESAD-UK 11 46049413 46049413 single base substitution A C upstream_gene_variant ESAD-UK 11 46050428 46050428 single base substitution T A intron_variant ESAD-UK 11 46050428 46050428 single base substitution T A upstream_gene_variant ESAD-UK 11 46050700 46050700 single base substitution C T intron_variant ESAD-UK 11 46050700 46050700 single base substitution C T upstream_gene_variant ESAD-UK 11 46050707 46050707 single base substitution T G intron_variant ESAD-UK 11 46050707 46050707 single base substitution T G upstream_gene_variant ESAD-UK 11 46053935 46053935 single base substitution G A intron_variant ESAD-UK 11 46054415 46054415 single base substitution G C intron_variant ESAD-UK 11 46056225 46056225 single base substitution C T intron_variant ESAD-UK 11 46056440 46056440 single base substitution A T intron_variant ESAD-UK 11 46058360 46058360 single base substitution G C intron_variant ESAD-UK 11 46061354 46061354 single base substitution G C intron_variant ESAD-UK 11 46062489 46062489 single base substitution C T intron_variant ESAD-UK 11 46072187 46072187 single base substitution A C intron_variant ESAD-UK 11 46073054 46073054 single base substitution C G intron_variant ESAD-UK 11 46076680 46076680 single base substitution G A intron_variant ESAD-UK 11 46077072 46077072 single base substitution T G intron_variant ESAD-UK 11 46078650 46078650 single base substitution T C intron_variant ESAD-UK 11 46081689 46081690 deletion of <=200bp TT - intron_variant ESAD-UK 11 46082630 46082630 single base substitution T C intron_variant ESAD-UK 11 46088538 46088538 single base substitution C A intron_variant ESAD-UK 11 46089708 46089708 single base substitution T C intron_variant ESAD-UK 11 46091565 46091565 single base substitution A T intron_variant ESAD-UK 11 46092167 46092167 single base substitution C G intron_variant ESAD-UK 11 46094617 46094617 single base substitution C T downstream_gene_variant ESAD-UK 11 46094617 46094617 single base substitution C T intron_variant ESAD-UK 11 46095341 46095341 single base substitution A C downstream_gene_variant ESAD-UK 11 46095341 46095341 single base substitution A C intron_variant ESAD-UK 11 46101622 46101622 single base substitution A C downstream_gene_variant ESAD-UK 11 46101622 46101622 single base substitution A C intron_variant ESAD-UK 11 46102021 46102021 deletion of <=200bp G - downstream_gene_variant ESAD-UK 11 46102021 46102021 deletion of <=200bp G - intron_variant ESAD-UK 11 46102030 46102030 single base substitution T A downstream_gene_variant ESAD-UK 11 46102030 46102030 single base substitution T A intron_variant ESAD-UK 11 46103783 46103783 single base substitution T A downstream_gene_variant ESAD-UK 11 46103783 46103783 single base substitution T A intron_variant ESAD-UK 11 46106125 46106125 single base substitution C T intron_variant ESAD-UK 11 46108570 46108570 single base substitution G C downstream_gene_variant ESAD-UK 11 46108570 46108570 single base substitution G C intron_variant ESAD-UK 11 46108759 46108759 single base substitution G A downstream_gene_variant ESAD-UK 11 46108759 46108759 single base substitution G A intron_variant ESAD-UK 11 46109548 46109548 deletion of <=200bp C - downstream_gene_variant ESAD-UK 11 46109548 46109548 deletion of <=200bp C - intron_variant ESAD-UK 11 46113951 46113951 insertion of <=200bp - TT intron_variant ESAD-UK 11 46113951 46113951 insertion of <=200bp - TT upstream_gene_variant ESAD-UK 11 46116705 46116705 single base substitution A T intron_variant ESAD-UK 11 46116705 46116705 single base substitution A T upstream_gene_variant ESAD-UK 11 46116904 46116907 deletion of <=200bp GTTT - intron_variant ESAD-UK 11 46116904 46116907 deletion of <=200bp GTTT - upstream_gene_variant ESAD-UK 11 46118735 46118735 single base substitution T A intron_variant ESAD-UK 11 46118735 46118735 single base substitution T A upstream_gene_variant ESAD-UK 11 46118744 46118744 single base substitution G A intron_variant ESAD-UK 11 46118744 46118744 single base substitution G A upstream_gene_variant ESAD-UK 11 46121682 46121682 deletion of <=200bp A - intron_variant ESAD-UK 11 46123142 46123142 single base substitution T A intron_variant ESAD-UK 11 46125502 46125502 single base substitution T A intron_variant ESAD-UK 11 46125590 46125590 single base substitution A T intron_variant ESAD-UK 11 46130653 46130653 single base substitution A G intron_variant ESAD-UK 11 46132360 46132361 deletion of <=200bp AG - intron_variant ESAD-UK 11 46132399 46132399 single base substitution C A intron_variant ESAD-UK 11 46132884 46132884 single base substitution G A intron_variant ESAD-UK 11 46134509 46134509 single base substitution T C intron_variant ESAD-UK 11 46136350 46136350 deletion of <=200bp A - intron_variant ESAD-UK 11 46138241 46138241 single base substitution G A downstream_gene_variant ESAD-UK 11 46138241 46138241 single base substitution G A intron_variant ESAD-UK 11 46138383 46138383 single base substitution G A downstream_gene_variant ESAD-UK 11 46138383 46138383 single base substitution G A intron_variant ESAD-UK 11 46142891 46142891 single base substitution G A 5_prime_UTR_variant ESAD-UK 11 46142891 46142891 single base substitution G A upstream_gene_variant ESAD-UK 11 46146849 46146849 single base substitution C T upstream_gene_variant ESAD-UK 11 46147404 46147404 single base substitution T C upstream_gene_variant ESCA-CN 11 45947662 45947662 single base substitution G A downstream_gene_variant GBM-US 11 45946107 45946107 single base substitution A C downstream_gene_variant GBM-US 11 45950278 45950278 single base substitution G A downstream_gene_variant KIRC-US 11 45955639 45955639 single base substitution C A 3_prime_UTR_variant KIRC-US 11 45955639 45955639 single base substitution C A downstream_gene_variant KIRC-US 11 45955639 45955639 single base substitution C A exon_variant KIRC-US 11 45955639 45955639 single base substitution C A synonymous_variant G116G 348G>T KIRC-US 11 45955639 45955639 single base substitution C A synonymous_variant G595G 1785G>T KIRC-US 11 45955639 45955639 single base substitution C A synonymous_variant G641G 1923G>T KIRC-US 11 45955639 45955639 single base substitution C A synonymous_variant G642G 1926G>T LAML-KR 11 45949534 45949534 single base substitution C T downstream_gene_variant LAML-KR 11 45958240 45958240 single base substitution G C downstream_gene_variant LAML-KR 11 45958240 45958240 single base substitution G C exon_variant LAML-KR 11 45958240 45958240 single base substitution G C intron_variant LAML-KR 11 45958240 45958240 single base substitution G C upstream_gene_variant LAML-KR 11 45996908 45996908 single base substitution T C downstream_gene_variant LAML-KR 11 45996908 45996908 single base substitution T C intron_variant LAML-KR 11 45996908 45996908 single base substitution T C upstream_gene_variant LAML-KR 11 45996913 45996913 single base substitution T C downstream_gene_variant LAML-KR 11 45996913 45996913 single base substitution T C intron_variant LAML-KR 11 45996913 45996913 single base substitution T C upstream_gene_variant LAML-KR 11 45996918 45996918 single base substitution T C downstream_gene_variant LAML-KR 11 45996918 45996918 single base substitution T C intron_variant LAML-KR 11 45996918 45996918 single base substitution T C upstream_gene_variant LGG-US 11 45950277 45950277 single base substitution C T downstream_gene_variant LGG-US 11 45959824 45959824 single base substitution T C exon_variant LGG-US 11 45959824 45959824 single base substitution T C intron_variant LGG-US 11 45959824 45959824 single base substitution T C missense_variant S451G 1351A>G LGG-US 11 45959824 45959824 single base substitution T C missense_variant S497G 1489A>G LGG-US 11 45959824 45959824 single base substitution T C missense_variant S498G 1492A>G LGG-US 11 45959824 45959824 single base substitution T C upstream_gene_variant LGG-US 11 46098353 46098356 deletion of <=200bp TTTC - downstream_gene_variant LGG-US 11 46098353 46098356 deletion of <=200bp TTTC - exon_variant LGG-US 11 46098353 46098356 deletion of <=200bp TTTC - frameshift_variant KK11 LGG-US 11 46098353 46098356 deletion of <=200bp TTTC - frameshift_variant KK34 LGG-US 11 46098353 46098356 deletion of <=200bp TTTC - frameshift_variant KK41 LICA-CN 11 45975091 45975091 single base substitution T A exon_variant LICA-CN 11 45975091 45975091 single base substitution T A missense_variant E360V 1079A>T LICA-CN 11 45975091 45975091 single base substitution T A missense_variant E361V 1082A>T LICA-CN 11 45991367 45991367 single base substitution T A downstream_gene_variant LICA-CN 11 45991367 45991367 single base substitution T A missense_variant Q233L 698A>T LICA-CN 11 45991367 45991367 single base substitution T A missense_variant Q234L 701A>T LICA-CN 11 45991367 45991367 single base substitution T A splice_region_variant LICA-CN 11 45991367 45991367 single base substitution T A upstream_gene_variant LICA-FR 11 45946320 45946320 single base substitution T C downstream_gene_variant LICA-FR 11 45947625 45947625 single base substitution G A downstream_gene_variant LICA-FR 11 45949812 45949812 single base substitution G A downstream_gene_variant LICA-FR 11 45955572 45955572 single base substitution G T 3_prime_UTR_variant LICA-FR 11 45955572 45955572 single base substitution G T downstream_gene_variant LICA-FR 11 45955572 45955572 single base substitution G T exon_variant LICA-FR 11 45955572 45955572 single base substitution G T missense_variant P139T 415C>A LICA-FR 11 45955572 45955572 single base substitution G T missense_variant P618T 1852C>A LICA-FR 11 45955572 45955572 single base substitution G T missense_variant P664T 1990C>A LICA-FR 11 45955572 45955572 single base substitution G T missense_variant P665T 1993C>A LICA-FR 11 45974871 45974871 single base substitution T C intron_variant LICA-FR 11 45979246 45979246 single base substitution C A intron_variant LICA-FR 11 45979246 45979246 single base substitution C A upstream_gene_variant LICA-FR 11 45984995 45984995 single base substitution G A intron_variant LICA-FR 11 45991366 45991366 single base substitution C T downstream_gene_variant LICA-FR 11 45991366 45991366 single base substitution C T splice_region_variant LICA-FR 11 45991366 45991366 single base substitution C T upstream_gene_variant LICA-FR 11 45995970 45995970 insertion of <=200bp - ATTATT intron_variant LICA-FR 11 45995970 45995970 insertion of <=200bp - ATTATT upstream_gene_variant LICA-FR 11 46017182 46017182 single base substitution C A intron_variant LICA-FR 11 46039717 46039717 single base substitution C G intron_variant LICA-FR 11 46089399 46089399 single base substitution C T intron_variant LICA-FR 11 46114311 46114311 insertion of <=200bp - T intron_variant LICA-FR 11 46114311 46114311 insertion of <=200bp - T upstream_gene_variant LICA-FR 11 46127390 46127390 single base substitution C T intron_variant LICA-FR 11 46130049 46130049 single base substitution T C intron_variant LICA-FR 11 46147803 46147803 insertion of <=200bp - A upstream_gene_variant LIHC-US 11 45948313 45948313 single base substitution C T downstream_gene_variant LIHC-US 11 45948990 45948990 single base substitution C T downstream_gene_variant LIHC-US 11 45975168 45975168 single base substitution T C exon_variant LIHC-US 11 45975168 45975168 single base substitution T C synonymous_variant K334K 1002A>G LIHC-US 11 45975168 45975168 single base substitution T C synonymous_variant K335K 1005A>G LIHC-US 11 45975168 45975168 single base substitution T C upstream_gene_variant LIHC-US 11 46098351 46098351 single base substitution T C downstream_gene_variant LIHC-US 11 46098351 46098351 single base substitution T C exon_variant LIHC-US 11 46098351 46098351 single base substitution T C missense_variant Q13R 38A>G LIHC-US 11 46098351 46098351 single base substitution T C missense_variant Q36R 107A>G LIHC-US 11 46098351 46098351 single base substitution T C missense_variant Q43R 128A>G LINC-JP 11 45951864 45951864 single base substitution G T 3_prime_UTR_variant LINC-JP 11 45951864 45951864 single base substitution G T downstream_gene_variant LINC-JP 11 45951864 45951864 single base substitution G T exon_variant LINC-JP 11 45956100 45956100 deletion of <=200bp A - downstream_gene_variant LINC-JP 11 45956100 45956100 deletion of <=200bp A - exon_variant LINC-JP 11 45956100 45956100 deletion of <=200bp A - intron_variant LINC-JP 11 45967431 45967431 single base substitution G A exon_variant LINC-JP 11 45967431 45967431 single base substitution G A intron_variant LINC-JP 11 45967431 45967431 single base substitution G A missense_variant P470L 1409C>T LINC-JP 11 45967431 45967431 single base substitution G A missense_variant P471L 1412C>T LINC-JP 11 45967431 45967431 single base substitution G A upstream_gene_variant LINC-JP 11 45968867 45968867 deletion of <=200bp A - intron_variant LINC-JP 11 45968867 45968867 deletion of <=200bp A - upstream_gene_variant LINC-JP 11 45970409 45970409 single base substitution C A intron_variant LINC-JP 11 45970409 45970409 single base substitution C A upstream_gene_variant LINC-JP 11 45979040 45979040 single base substitution A G intron_variant LINC-JP 11 45979040 45979040 single base substitution A G upstream_gene_variant LINC-JP 11 45986201 45986201 single base substitution C A intron_variant LINC-JP 11 45986661 45986661 single base substitution A T intron_variant LINC-JP 11 45999913 45999913 single base substitution C A downstream_gene_variant LINC-JP 11 45999913 45999913 single base substitution C A intron_variant LINC-JP 11 46035165 46035165 single base substitution T A intron_variant LINC-JP 11 46035569 46035569 single base substitution T C intron_variant LINC-JP 11 46040263 46040263 deletion of <=200bp T - intron_variant LINC-JP 11 46044894 46044894 single base substitution A C intron_variant LINC-JP 11 46053727 46053727 single base substitution G A intron_variant LINC-JP 11 46065018 46065018 insertion of <=200bp - A intron_variant LINC-JP 11 46066465 46066465 single base substitution G A intron_variant LINC-JP 11 46075698 46075698 single base substitution C A intron_variant LINC-JP 11 46090220 46090220 deletion of <=200bp A - intron_variant LINC-JP 11 46100816 46100816 insertion of <=200bp - A downstream_gene_variant LINC-JP 11 46100816 46100816 insertion of <=200bp - A intron_variant LINC-JP 11 46104196 46104196 single base substitution T C downstream_gene_variant LINC-JP 11 46104196 46104196 single base substitution T C intron_variant LINC-JP 11 46113150 46113150 single base substitution C T intron_variant LINC-JP 11 46115923 46115923 single base substitution A T intron_variant LINC-JP 11 46115923 46115923 single base substitution A T upstream_gene_variant LINC-JP 11 46122038 46122038 single base substitution T G intron_variant LINC-JP 11 46123699 46123699 single base substitution G A intron_variant LINC-JP 11 46124292 46124292 single base substitution C G intron_variant LINC-JP 11 46129199 46129199 single base substitution A G intron_variant LINC-JP 11 46132373 46132373 single base substitution G C intron_variant LINC-JP 11 46140924 46140924 single base substitution C G downstream_gene_variant LINC-JP 11 46140924 46140924 single base substitution C G intron_variant LIRI-JP 11 45951325 45951325 single base substitution A T 3_prime_UTR_variant LIRI-JP 11 45951325 45951325 single base substitution A T downstream_gene_variant LIRI-JP 11 45951325 45951325 single base substitution A T exon_variant LIRI-JP 11 45954613 45954613 single base substitution T A 3_prime_UTR_variant LIRI-JP 11 45954613 45954613 single base substitution T A downstream_gene_variant LIRI-JP 11 45954613 45954613 single base substitution T A exon_variant LIRI-JP 11 45955290 45955290 single base substitution C T 3_prime_UTR_variant LIRI-JP 11 45955290 45955290 single base substitution C T downstream_gene_variant LIRI-JP 11 45955290 45955290 single base substitution C T exon_variant LIRI-JP 11 45955607 45955607 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 11 45955607 45955607 deletion of <=200bp G - downstream_gene_variant LIRI-JP 11 45955607 45955607 deletion of <=200bp G - exon_variant LIRI-JP 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P127 LIRI-JP 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P606 LIRI-JP 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P652 LIRI-JP 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P653 LIRI-JP 11 45956116 45956116 single base substitution T C downstream_gene_variant LIRI-JP 11 45956116 45956116 single base substitution T C exon_variant LIRI-JP 11 45956116 45956116 single base substitution T C intron_variant LIRI-JP 11 45961239 45961250 deletion of <=200bp GGTAAGTCTGCT - intron_variant LIRI-JP 11 45961239 45961250 deletion of <=200bp GGTAAGTCTGCT - upstream_gene_variant LIRI-JP 11 45967178 45967178 single base substitution A C intron_variant LIRI-JP 11 45968019 45968019 single base substitution C A intron_variant LIRI-JP 11 45968019 45968019 single base substitution C A upstream_gene_variant LIRI-JP 11 45970885 45970885 single base substitution G A intron_variant LIRI-JP 11 45970885 45970885 single base substitution G A upstream_gene_variant LIRI-JP 11 45971377 45971377 single base substitution T C intron_variant LIRI-JP 11 45971377 45971377 single base substitution T C upstream_gene_variant LIRI-JP 11 45971859 45971859 single base substitution A T intron_variant LIRI-JP 11 45971859 45971859 single base substitution A T upstream_gene_variant LIRI-JP 11 45973795 45973795 single base substitution A G intron_variant LIRI-JP 11 45974038 45974038 single base substitution T C intron_variant LIRI-JP 11 45975188 45975188 single base substitution A C intron_variant LIRI-JP 11 45975188 45975188 single base substitution A C upstream_gene_variant LIRI-JP 11 45980865 45980865 single base substitution G T intron_variant LIRI-JP 11 45983893 45983896 deletion of <=200bp TACA - intron_variant LIRI-JP 11 45983928 45983931 deletion of <=200bp ATCT - intron_variant LIRI-JP 11 45985655 45985655 single base substitution A C intron_variant LIRI-JP 11 45986173 45986175 deletion of <=200bp TAG - intron_variant LIRI-JP 11 45986208 45986208 single base substitution T G intron_variant LIRI-JP 11 45987048 45987048 single base substitution G C exon_variant LIRI-JP 11 45987048 45987048 single base substitution G C missense_variant P271A 811C>G LIRI-JP 11 45987048 45987048 single base substitution G C missense_variant P272A 814C>G LIRI-JP 11 45987048 45987048 single base substitution G C upstream_gene_variant LIRI-JP 11 45995065 45995065 single base substitution T C intron_variant LIRI-JP 11 45995065 45995065 single base substitution T C upstream_gene_variant LIRI-JP 11 45995406 45995406 single base substitution T G intron_variant LIRI-JP 11 45995406 45995406 single base substitution T G upstream_gene_variant LIRI-JP 11 45997737 45997737 single base substitution T C downstream_gene_variant LIRI-JP 11 45997737 45997737 single base substitution T C intron_variant LIRI-JP 11 45997737 45997737 single base substitution T C upstream_gene_variant LIRI-JP 11 46002386 46002386 single base substitution T C intron_variant LIRI-JP 11 46004078 46004078 single base substitution G T intron_variant LIRI-JP 11 46004730 46004730 single base substitution T C intron_variant LIRI-JP 11 46005688 46005688 single base substitution T C intron_variant LIRI-JP 11 46007535 46007535 single base substitution G A intron_variant LIRI-JP 11 46007571 46007571 single base substitution T C intron_variant LIRI-JP 11 46008565 46008565 single base substitution C T intron_variant LIRI-JP 11 46008672 46008672 single base substitution C A intron_variant LIRI-JP 11 46016397 46016397 single base substitution T C intron_variant LIRI-JP 11 46016919 46016922 deletion of <=200bp CTGT - intron_variant LIRI-JP 11 46019408 46019408 single base substitution T C intron_variant LIRI-JP 11 46022466 46022466 single base substitution C T intron_variant LIRI-JP 11 46025736 46025736 single base substitution T A intron_variant LIRI-JP 11 46031472 46031472 single base substitution T C intron_variant LIRI-JP 11 46033066 46033066 single base substitution A G intron_variant LIRI-JP 11 46033715 46033715 single base substitution C A intron_variant LIRI-JP 11 46033718 46033718 single base substitution A T intron_variant LIRI-JP 11 46034090 46034090 single base substitution C A intron_variant LIRI-JP 11 46035255 46035255 single base substitution T C intron_variant LIRI-JP 11 46040364 46040364 single base substitution T C intron_variant LIRI-JP 11 46041184 46041184 single base substitution A G intron_variant LIRI-JP 11 46042009 46042009 single base substitution G C intron_variant LIRI-JP 11 46043486 46043486 single base substitution G T intron_variant LIRI-JP 11 46044753 46044753 single base substitution T A intron_variant LIRI-JP 11 46044837 46044837 single base substitution T C intron_variant LIRI-JP 11 46046721 46046721 single base substitution G A intron_variant LIRI-JP 11 46051057 46051057 single base substitution G T intron_variant LIRI-JP 11 46051057 46051057 single base substitution G T upstream_gene_variant LIRI-JP 11 46051741 46051741 deletion of <=200bp C - intron_variant LIRI-JP 11 46051741 46051741 deletion of <=200bp C - upstream_gene_variant LIRI-JP 11 46053549 46053549 single base substitution C T intron_variant LIRI-JP 11 46053549 46053549 single base substitution C T upstream_gene_variant LIRI-JP 11 46053699 46053699 single base substitution T A intron_variant LIRI-JP 11 46055919 46055919 single base substitution T A intron_variant LIRI-JP 11 46056559 46056559 single base substitution T C intron_variant LIRI-JP 11 46057351 46057351 single base substitution G A intron_variant LIRI-JP 11 46058569 46058569 single base substitution T C intron_variant LIRI-JP 11 46059115 46059115 single base substitution C G intron_variant LIRI-JP 11 46061378 46061378 single base substitution T C intron_variant LIRI-JP 11 46064214 46064214 single base substitution T A intron_variant LIRI-JP 11 46065715 46065715 single base substitution C T intron_variant LIRI-JP 11 46066140 46066140 single base substitution G C intron_variant LIRI-JP 11 46066844 46066844 single base substitution C T intron_variant LIRI-JP 11 46068696 46068696 single base substitution C A intron_variant LIRI-JP 11 46070192 46070192 single base substitution A G intron_variant LIRI-JP 11 46070317 46070317 single base substitution T C intron_variant LIRI-JP 11 46070614 46070614 single base substitution C T intron_variant LIRI-JP 11 46073891 46073891 single base substitution T C intron_variant LIRI-JP 11 46074525 46074525 single base substitution C T intron_variant LIRI-JP 11 46075437 46075437 insertion of <=200bp - A intron_variant LIRI-JP 11 46078945 46078945 single base substitution C A intron_variant LIRI-JP 11 46079245 46079245 single base substitution T C intron_variant LIRI-JP 11 46079974 46079974 single base substitution G A intron_variant LIRI-JP 11 46080713 46080713 single base substitution T C intron_variant LIRI-JP 11 46082149 46082149 single base substitution T C intron_variant LIRI-JP 11 46083000 46083000 single base substitution T C intron_variant LIRI-JP 11 46083819 46083819 single base substitution T C intron_variant LIRI-JP 11 46084731 46084731 single base substitution G A intron_variant LIRI-JP 11 46085495 46085495 single base substitution A G intron_variant LIRI-JP 11 46085564 46085564 single base substitution T C intron_variant LIRI-JP 11 46086414 46086414 single base substitution C A intron_variant LIRI-JP 11 46086906 46086906 single base substitution C A intron_variant LIRI-JP 11 46087098 46087098 single base substitution A C intron_variant LIRI-JP 11 46087785 46087785 single base substitution G A intron_variant LIRI-JP 11 46088719 46088719 single base substitution T C intron_variant LIRI-JP 11 46091202 46091202 single base substitution T C intron_variant LIRI-JP 11 46092850 46092850 single base substitution T C intron_variant LIRI-JP 11 46094262 46094262 single base substitution T C downstream_gene_variant LIRI-JP 11 46094262 46094262 single base substitution T C intron_variant LIRI-JP 11 46095556 46095556 single base substitution T C downstream_gene_variant LIRI-JP 11 46095556 46095556 single base substitution T C intron_variant LIRI-JP 11 46096013 46096013 deletion of <=200bp A - downstream_gene_variant LIRI-JP 11 46096013 46096013 deletion of <=200bp A - intron_variant LIRI-JP 11 46099759 46099759 single base substitution G T downstream_gene_variant LIRI-JP 11 46099759 46099759 single base substitution G T intron_variant LIRI-JP 11 46100476 46100476 single base substitution T C downstream_gene_variant LIRI-JP 11 46100476 46100476 single base substitution T C intron_variant LIRI-JP 11 46101600 46101600 single base substitution T C downstream_gene_variant LIRI-JP 11 46101600 46101600 single base substitution T C intron_variant LIRI-JP 11 46102319 46102319 single base substitution A C downstream_gene_variant LIRI-JP 11 46102319 46102319 single base substitution A C intron_variant LIRI-JP 11 46105222 46105222 single base substitution T C downstream_gene_variant LIRI-JP 11 46105222 46105222 single base substitution T C intron_variant LIRI-JP 11 46115849 46115849 single base substitution A G intron_variant LIRI-JP 11 46115849 46115849 single base substitution A G upstream_gene_variant LIRI-JP 11 46117721 46117721 single base substitution C T intron_variant LIRI-JP 11 46117721 46117721 single base substitution C T upstream_gene_variant LIRI-JP 11 46121379 46121379 single base substitution A T intron_variant LIRI-JP 11 46123982 46123982 single base substitution T C intron_variant LIRI-JP 11 46126918 46126918 single base substitution T C intron_variant LIRI-JP 11 46129599 46129599 single base substitution A G intron_variant LIRI-JP 11 46131367 46131367 single base substitution C T intron_variant LIRI-JP 11 46135269 46135269 single base substitution C T intron_variant LIRI-JP 11 46137321 46137321 single base substitution C T downstream_gene_variant LIRI-JP 11 46137321 46137321 single base substitution C T intron_variant LIRI-JP 11 46146213 46146213 single base substitution G T upstream_gene_variant LIRI-JP 11 46146567 46146567 single base substitution G C upstream_gene_variant LIRI-JP 11 46146919 46146919 single base substitution A G upstream_gene_variant LIRI-JP 11 46147388 46147388 single base substitution C A upstream_gene_variant LUSC-KR 11 45945928 45945928 single base substitution C A downstream_gene_variant LUSC-KR 11 45948168 45948168 single base substitution C G downstream_gene_variant LUSC-KR 11 45958411 45958411 single base substitution C A downstream_gene_variant LUSC-KR 11 45958411 45958411 single base substitution C A intron_variant LUSC-KR 11 45958411 45958411 single base substitution C A upstream_gene_variant LUSC-KR 11 45961734 45961734 single base substitution G C intron_variant LUSC-KR 11 45961734 45961734 single base substitution G C upstream_gene_variant LUSC-KR 11 45965977 45965977 single base substitution G A intron_variant LUSC-KR 11 45969013 45969013 single base substitution C G intron_variant LUSC-KR 11 45969013 45969013 single base substitution C G upstream_gene_variant LUSC-KR 11 45970265 45970265 single base substitution C G intron_variant LUSC-KR 11 45970265 45970265 single base substitution C G upstream_gene_variant LUSC-KR 11 45975841 45975841 single base substitution C A intron_variant LUSC-KR 11 45975841 45975841 single base substitution C A upstream_gene_variant LUSC-KR 11 45977116 45977116 single base substitution G C intron_variant LUSC-KR 11 45977116 45977116 single base substitution G C upstream_gene_variant LUSC-KR 11 45978150 45978150 single base substitution G T intron_variant LUSC-KR 11 45978150 45978150 single base substitution G T upstream_gene_variant LUSC-KR 11 45978576 45978576 single base substitution G A intron_variant LUSC-KR 11 45978576 45978576 single base substitution G A upstream_gene_variant LUSC-KR 11 45981818 45981818 single base substitution G A intron_variant LUSC-KR 11 45984995 45984995 single base substitution G A intron_variant LUSC-KR 11 45985015 45985015 single base substitution T C intron_variant LUSC-KR 11 45986887 45986887 single base substitution G T exon_variant LUSC-KR 11 45986887 45986887 single base substitution G T missense_variant S324R 972C>A LUSC-KR 11 45986887 45986887 single base substitution G T missense_variant S325R 975C>A LUSC-KR 11 45986893 45986893 single base substitution C G exon_variant LUSC-KR 11 45986893 45986893 single base substitution C G missense_variant Q322H 966G>C LUSC-KR 11 45986893 45986893 single base substitution C G missense_variant Q323H 969G>C LUSC-KR 11 45987007 45987007 single base substitution G A exon_variant LUSC-KR 11 45987007 45987007 single base substitution G A synonymous_variant V284V 852C>T LUSC-KR 11 45987007 45987007 single base substitution G A synonymous_variant V285V 855C>T LUSC-KR 11 45996908 45996908 single base substitution T C downstream_gene_variant LUSC-KR 11 45996908 45996908 single base substitution T C intron_variant LUSC-KR 11 45996908 45996908 single base substitution T C upstream_gene_variant LUSC-KR 11 45996913 45996913 single base substitution T C downstream_gene_variant LUSC-KR 11 45996913 45996913 single base substitution T C intron_variant LUSC-KR 11 45996913 45996913 single base substitution T C upstream_gene_variant LUSC-KR 11 45996918 45996918 single base substitution T C downstream_gene_variant LUSC-KR 11 45996918 45996918 single base substitution T C intron_variant LUSC-KR 11 45996918 45996918 single base substitution T C upstream_gene_variant LUSC-KR 11 45997735 45997735 single base substitution C G downstream_gene_variant LUSC-KR 11 45997735 45997735 single base substitution C G intron_variant LUSC-KR 11 45997735 45997735 single base substitution C G upstream_gene_variant LUSC-KR 11 46000229 46000229 single base substitution A G downstream_gene_variant LUSC-KR 11 46000229 46000229 single base substitution A G intron_variant LUSC-KR 11 46012276 46012276 single base substitution A T intron_variant LUSC-KR 11 46013956 46013956 single base substitution T G intron_variant LUSC-KR 11 46015150 46015150 single base substitution G A intron_variant LUSC-KR 11 46025138 46025138 single base substitution G T intron_variant LUSC-KR 11 46031936 46031936 single base substitution A G intron_variant LUSC-KR 11 46032279 46032279 single base substitution A C intron_variant LUSC-KR 11 46032792 46032792 single base substitution C G intron_variant LUSC-KR 11 46036160 46036160 single base substitution T C intron_variant LUSC-KR 11 46038727 46038727 single base substitution G A intron_variant LUSC-KR 11 46040777 46040777 single base substitution G C intron_variant LUSC-KR 11 46042540 46042540 single base substitution G A intron_variant LUSC-KR 11 46043393 46043393 single base substitution C A intron_variant LUSC-KR 11 46043394 46043394 single base substitution C A intron_variant LUSC-KR 11 46044171 46044171 single base substitution C A intron_variant LUSC-KR 11 46053097 46053097 single base substitution T C intron_variant LUSC-KR 11 46053097 46053097 single base substitution T C upstream_gene_variant LUSC-KR 11 46053641 46053641 single base substitution T A intron_variant LUSC-KR 11 46057166 46057166 single base substitution C A intron_variant LUSC-KR 11 46057223 46057223 single base substitution T A intron_variant LUSC-KR 11 46059839 46059839 single base substitution C A intron_variant LUSC-KR 11 46064457 46064457 single base substitution A C intron_variant LUSC-KR 11 46071241 46071241 single base substitution G A intron_variant LUSC-KR 11 46080348 46080348 single base substitution G C intron_variant LUSC-KR 11 46085782 46085782 single base substitution C G intron_variant LUSC-KR 11 46113228 46113228 single base substitution T C intron_variant LUSC-KR 11 46120029 46120029 single base substitution A G intron_variant LUSC-KR 11 46125922 46125922 single base substitution C T intron_variant LUSC-US 11 45950301 45950301 single base substitution G A downstream_gene_variant LUSC-US 11 45950326 45950326 single base substitution G A downstream_gene_variant LUSC-US 11 45970972 45970972 single base substitution C T exon_variant LUSC-US 11 45970972 45970972 single base substitution C T missense_variant G402E 1205G>A LUSC-US 11 45970972 45970972 single base substitution C T missense_variant G403E 1208G>A LUSC-US 11 45970972 45970972 single base substitution C T upstream_gene_variant LUSC-US 11 46001392 46001392 single base substitution C A 3_prime_UTR_variant LUSC-US 11 46001392 46001392 single base substitution C A downstream_gene_variant LUSC-US 11 46001392 46001392 single base substitution C A exon_variant LUSC-US 11 46001392 46001392 single base substitution C A missense_variant Q100H 300G>T LUSC-US 11 46001392 46001392 single base substitution C A missense_variant Q93H 279G>T MALY-DE 11 45952009 45952009 single base substitution A T 3_prime_UTR_variant MALY-DE 11 45952009 45952009 single base substitution A T downstream_gene_variant MALY-DE 11 45952009 45952009 single base substitution A T exon_variant MALY-DE 11 45952050 45952050 single base substitution C A 3_prime_UTR_variant MALY-DE 11 45952050 45952050 single base substitution C A downstream_gene_variant MALY-DE 11 45952050 45952050 single base substitution C A exon_variant MALY-DE 11 45954004 45954004 single base substitution C T 3_prime_UTR_variant MALY-DE 11 45954004 45954004 single base substitution C T downstream_gene_variant MALY-DE 11 45954004 45954004 single base substitution C T exon_variant MALY-DE 11 45954120 45954120 single base substitution G A 3_prime_UTR_variant MALY-DE 11 45954120 45954120 single base substitution G A downstream_gene_variant MALY-DE 11 45954120 45954120 single base substitution G A exon_variant MALY-DE 11 45954414 45954415 deletion of <=200bp AA - 3_prime_UTR_variant MALY-DE 11 45954414 45954415 deletion of <=200bp AA - downstream_gene_variant MALY-DE 11 45954414 45954415 deletion of <=200bp AA - exon_variant MALY-DE 11 45954418 45954418 insertion of <=200bp - C 3_prime_UTR_variant MALY-DE 11 45954418 45954418 insertion of <=200bp - C downstream_gene_variant MALY-DE 11 45954418 45954418 insertion of <=200bp - C exon_variant MALY-DE 11 45954447 45954447 single base substitution A C 3_prime_UTR_variant MALY-DE 11 45954447 45954447 single base substitution A C downstream_gene_variant MALY-DE 11 45954447 45954447 single base substitution A C exon_variant MALY-DE 11 45954495 45954495 single base substitution A G 3_prime_UTR_variant MALY-DE 11 45954495 45954495 single base substitution A G downstream_gene_variant MALY-DE 11 45954495 45954495 single base substitution A G exon_variant MALY-DE 11 45954568 45954568 single base substitution T C 3_prime_UTR_variant MALY-DE 11 45954568 45954568 single base substitution T C downstream_gene_variant MALY-DE 11 45954568 45954568 single base substitution T C exon_variant MALY-DE 11 45958101 45958101 single base substitution G T downstream_gene_variant MALY-DE 11 45958101 45958101 single base substitution G T exon_variant MALY-DE 11 45958101 45958101 single base substitution G T missense_variant A17E 50C>A MALY-DE 11 45958101 45958101 single base substitution G T missense_variant A496E 1487C>A MALY-DE 11 45958101 45958101 single base substitution G T missense_variant A542E 1625C>A MALY-DE 11 45958101 45958101 single base substitution G T missense_variant A543E 1628C>A MALY-DE 11 45958101 45958101 single base substitution G T upstream_gene_variant MALY-DE 11 45958109 45958109 single base substitution C T downstream_gene_variant MALY-DE 11 45958109 45958109 single base substitution C T exon_variant MALY-DE 11 45958109 45958109 single base substitution C T synonymous_variant K14K 42G>A MALY-DE 11 45958109 45958109 single base substitution C T synonymous_variant K493K 1479G>A MALY-DE 11 45958109 45958109 single base substitution C T synonymous_variant K539K 1617G>A MALY-DE 11 45958109 45958109 single base substitution C T synonymous_variant K540K 1620G>A MALY-DE 11 45958109 45958109 single base substitution C T upstream_gene_variant MALY-DE 11 45959680 45959680 single base substitution C T downstream_gene_variant MALY-DE 11 45959680 45959680 single base substitution C T intron_variant MALY-DE 11 45959680 45959680 single base substitution C T upstream_gene_variant MALY-DE 11 45973635 45973635 single base substitution C T intron_variant MALY-DE 11 45985889 45985889 single base substitution G C intron_variant MALY-DE 11 45988809 45988809 single base substitution C T downstream_gene_variant MALY-DE 11 45988809 45988809 single base substitution C T intron_variant MALY-DE 11 45988809 45988809 single base substitution C T upstream_gene_variant MALY-DE 11 45996873 45996873 single base substitution C T downstream_gene_variant MALY-DE 11 45996873 45996873 single base substitution C T intron_variant MALY-DE 11 45996873 45996873 single base substitution C T upstream_gene_variant MALY-DE 11 46004267 46004267 single base substitution A T intron_variant MALY-DE 11 46004856 46004856 single base substitution A G intron_variant MALY-DE 11 46007575 46007575 single base substitution T G intron_variant MALY-DE 11 46009428 46009428 single base substitution T C intron_variant MALY-DE 11 46021489 46021489 single base substitution G A intron_variant MALY-DE 11 46021660 46021660 single base substitution A T intron_variant MALY-DE 11 46021874 46021874 single base substitution G A intron_variant MALY-DE 11 46025629 46025629 single base substitution G A intron_variant MALY-DE 11 46032785 46032785 single base substitution A C intron_variant MALY-DE 11 46048186 46048186 insertion of <=200bp - A intron_variant MALY-DE 11 46072271 46072271 single base substitution G T intron_variant MALY-DE 11 46075081 46075081 single base substitution A G intron_variant MALY-DE 11 46094284 46094284 single base substitution A G downstream_gene_variant MALY-DE 11 46094284 46094284 single base substitution A G intron_variant MALY-DE 11 46095890 46095890 single base substitution A C downstream_gene_variant MALY-DE 11 46095890 46095890 single base substitution A C intron_variant MALY-DE 11 46096122 46096122 single base substitution T C downstream_gene_variant MALY-DE 11 46096122 46096122 single base substitution T C intron_variant MALY-DE 11 46112112 46112112 single base substitution G A 5_prime_UTR_variant MALY-DE 11 46112112 46112112 single base substitution G A exon_variant MALY-DE 11 46112112 46112112 single base substitution G A intron_variant MALY-DE 11 46117668 46117668 deletion of <=200bp A - intron_variant MALY-DE 11 46117668 46117668 deletion of <=200bp A - upstream_gene_variant MALY-DE 11 46121200 46121200 single base substitution A G intron_variant MALY-DE 11 46121235 46121235 single base substitution A T intron_variant MALY-DE 11 46134719 46134719 single base substitution G A intron_variant MALY-DE 11 46139437 46139437 single base substitution A G downstream_gene_variant MALY-DE 11 46139437 46139437 single base substitution A G intron_variant MALY-DE 11 46142550 46142552 deletion of <=200bp AGG - 5_prime_UTR_variant MALY-DE 11 46142550 46142552 deletion of <=200bp AGG - exon_variant MALY-DE 11 46142550 46142552 deletion of <=200bp AGG - upstream_gene_variant MELA-AU 11 45946258 45946259 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 45946316 45946316 single base substitution C T downstream_gene_variant MELA-AU 11 45946470 45946470 single base substitution G A downstream_gene_variant MELA-AU 11 45946610 45946610 single base substitution G A downstream_gene_variant MELA-AU 11 45946728 45946728 single base substitution G A downstream_gene_variant MELA-AU 11 45948496 45948496 single base substitution T G downstream_gene_variant MELA-AU 11 45948552 45948552 single base substitution G A downstream_gene_variant MELA-AU 11 45948630 45948630 single base substitution G A downstream_gene_variant MELA-AU 11 45948933 45948933 single base substitution G T downstream_gene_variant MELA-AU 11 45950401 45950401 single base substitution G A downstream_gene_variant MELA-AU 11 45950660 45950660 single base substitution C T downstream_gene_variant MELA-AU 11 45951490 45951490 single base substitution G A 3_prime_UTR_variant MELA-AU 11 45951490 45951490 single base substitution G A downstream_gene_variant MELA-AU 11 45951490 45951490 single base substitution G A exon_variant MELA-AU 11 45951496 45951496 single base substitution C T 3_prime_UTR_variant MELA-AU 11 45951496 45951496 single base substitution C T downstream_gene_variant MELA-AU 11 45951496 45951496 single base substitution C T exon_variant MELA-AU 11 45951968 45951968 single base substitution C T 3_prime_UTR_variant MELA-AU 11 45951968 45951968 single base substitution C T downstream_gene_variant MELA-AU 11 45951968 45951968 single base substitution C T exon_variant MELA-AU 11 45952045 45952045 single base substitution G A 3_prime_UTR_variant MELA-AU 11 45952045 45952045 single base substitution G A downstream_gene_variant MELA-AU 11 45952045 45952045 single base substitution G A exon_variant MELA-AU 11 45952202 45952202 single base substitution G A 3_prime_UTR_variant MELA-AU 11 45952202 45952202 single base substitution G A downstream_gene_variant MELA-AU 11 45952202 45952202 single base substitution G A exon_variant MELA-AU 11 45952367 45952367 single base substitution G A 3_prime_UTR_variant MELA-AU 11 45952367 45952367 single base substitution G A downstream_gene_variant MELA-AU 11 45952367 45952367 single base substitution G A exon_variant MELA-AU 11 45953259 45953259 single base substitution G A 3_prime_UTR_variant MELA-AU 11 45953259 45953259 single base substitution G A downstream_gene_variant MELA-AU 11 45953259 45953259 single base substitution G A exon_variant MELA-AU 11 45955057 45955057 single base substitution G A 3_prime_UTR_variant MELA-AU 11 45955057 45955057 single base substitution G A downstream_gene_variant MELA-AU 11 45955057 45955057 single base substitution G A exon_variant MELA-AU 11 45955589 45955589 single base substitution G A 3_prime_UTR_variant MELA-AU 11 45955589 45955589 single base substitution G A downstream_gene_variant MELA-AU 11 45955589 45955589 single base substitution G A exon_variant MELA-AU 11 45955589 45955589 single base substitution G A missense_variant S133F 398C>T MELA-AU 11 45955589 45955589 single base substitution G A missense_variant S612F 1835C>T MELA-AU 11 45955589 45955589 single base substitution G A missense_variant S658F 1973C>T MELA-AU 11 45955589 45955589 single base substitution G A missense_variant S659F 1976C>T MELA-AU 11 45955672 45955672 single base substitution G A 3_prime_UTR_variant MELA-AU 11 45955672 45955672 single base substitution G A downstream_gene_variant MELA-AU 11 45955672 45955672 single base substitution G A exon_variant MELA-AU 11 45955672 45955672 single base substitution G A missense_variant L87F 259C>T MELA-AU 11 45955672 45955672 single base substitution G A synonymous_variant L105L 315C>T MELA-AU 11 45955672 45955672 single base substitution G A synonymous_variant L584L 1752C>T MELA-AU 11 45955672 45955672 single base substitution G A synonymous_variant L630L 1890C>T MELA-AU 11 45955672 45955672 single base substitution G A synonymous_variant L631L 1893C>T MELA-AU 11 45955845 45955846 multiple base substitution (>=2bp and <=200bp) GC AA downstream_gene_variant MELA-AU 11 45955845 45955846 multiple base substitution (>=2bp and <=200bp) GC AA exon_variant MELA-AU 11 45955845 45955846 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 11 45956344 45956344 single base substitution G A downstream_gene_variant MELA-AU 11 45956344 45956344 single base substitution G A exon_variant MELA-AU 11 45956344 45956344 single base substitution G A intron_variant MELA-AU 11 45956465 45956465 single base substitution A C downstream_gene_variant MELA-AU 11 45956465 45956465 single base substitution A C exon_variant MELA-AU 11 45956465 45956465 single base substitution A C intron_variant MELA-AU 11 45957847 45957847 single base substitution T C downstream_gene_variant MELA-AU 11 45957847 45957847 single base substitution T C intron_variant MELA-AU 11 45958006 45958007 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 45958006 45958007 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 45958032 45958032 single base substitution G A downstream_gene_variant MELA-AU 11 45958032 45958032 single base substitution G A intron_variant MELA-AU 11 45958150 45958150 single base substitution G A downstream_gene_variant MELA-AU 11 45958150 45958150 single base substitution G A exon_variant MELA-AU 11 45958150 45958150 single base substitution G A intron_variant MELA-AU 11 45958150 45958150 single base substitution G A upstream_gene_variant MELA-AU 11 45958438 45958438 single base substitution A C downstream_gene_variant MELA-AU 11 45958438 45958438 single base substitution A C intron_variant MELA-AU 11 45958438 45958438 single base substitution A C upstream_gene_variant MELA-AU 11 45958501 45958501 single base substitution G A downstream_gene_variant MELA-AU 11 45958501 45958501 single base substitution G A intron_variant MELA-AU 11 45958501 45958501 single base substitution G A upstream_gene_variant MELA-AU 11 45958919 45958919 single base substitution G A downstream_gene_variant MELA-AU 11 45958919 45958919 single base substitution G A intron_variant MELA-AU 11 45958919 45958919 single base substitution G A upstream_gene_variant MELA-AU 11 45958994 45958994 single base substitution A G downstream_gene_variant MELA-AU 11 45958994 45958994 single base substitution A G intron_variant MELA-AU 11 45958994 45958994 single base substitution A G upstream_gene_variant MELA-AU 11 45959520 45959520 single base substitution A T downstream_gene_variant MELA-AU 11 45959520 45959520 single base substitution A T intron_variant MELA-AU 11 45959520 45959520 single base substitution A T upstream_gene_variant MELA-AU 11 45959593 45959593 single base substitution C T downstream_gene_variant MELA-AU 11 45959593 45959593 single base substitution C T intron_variant MELA-AU 11 45959593 45959593 single base substitution C T upstream_gene_variant MELA-AU 11 45959746 45959746 single base substitution G A downstream_gene_variant MELA-AU 11 45959746 45959746 single base substitution G A exon_variant MELA-AU 11 45959746 45959746 single base substitution G A intron_variant MELA-AU 11 45959746 45959746 single base substitution G A missense_variant P477S 1429C>T MELA-AU 11 45959746 45959746 single base substitution G A missense_variant P523S 1567C>T MELA-AU 11 45959746 45959746 single base substitution G A missense_variant P524S 1570C>T MELA-AU 11 45959746 45959746 single base substitution G A upstream_gene_variant MELA-AU 11 45959822 45959822 single base substitution A G exon_variant MELA-AU 11 45959822 45959822 single base substitution A G intron_variant MELA-AU 11 45959822 45959822 single base substitution A G synonymous_variant S451S 1353T>C MELA-AU 11 45959822 45959822 single base substitution A G synonymous_variant S497S 1491T>C MELA-AU 11 45959822 45959822 single base substitution A G synonymous_variant S498S 1494T>C MELA-AU 11 45959822 45959822 single base substitution A G upstream_gene_variant MELA-AU 11 45961398 45961398 single base substitution G A intron_variant MELA-AU 11 45961398 45961398 single base substitution G A upstream_gene_variant MELA-AU 11 45961649 45961649 single base substitution G A intron_variant MELA-AU 11 45961649 45961649 single base substitution G A upstream_gene_variant MELA-AU 11 45962172 45962172 single base substitution C T intron_variant MELA-AU 11 45962172 45962172 single base substitution C T upstream_gene_variant MELA-AU 11 45962648 45962648 single base substitution G A intron_variant MELA-AU 11 45962648 45962648 single base substitution G A upstream_gene_variant MELA-AU 11 45962976 45962976 single base substitution G T intron_variant MELA-AU 11 45962976 45962976 single base substitution G T upstream_gene_variant MELA-AU 11 45963535 45963535 single base substitution G A intron_variant MELA-AU 11 45963535 45963535 single base substitution G A upstream_gene_variant MELA-AU 11 45963667 45963667 single base substitution G A intron_variant MELA-AU 11 45963667 45963667 single base substitution G A upstream_gene_variant MELA-AU 11 45963707 45963707 single base substitution A T intron_variant MELA-AU 11 45963707 45963707 single base substitution A T upstream_gene_variant MELA-AU 11 45964287 45964287 single base substitution G A intron_variant MELA-AU 11 45964287 45964287 single base substitution G A upstream_gene_variant MELA-AU 11 45964780 45964780 single base substitution C T intron_variant MELA-AU 11 45964780 45964780 single base substitution C T upstream_gene_variant MELA-AU 11 45964794 45964794 single base substitution C T intron_variant MELA-AU 11 45964794 45964794 single base substitution C T upstream_gene_variant MELA-AU 11 45964816 45964816 single base substitution G A intron_variant MELA-AU 11 45965485 45965485 single base substitution G A intron_variant MELA-AU 11 45966272 45966272 single base substitution A C intron_variant MELA-AU 11 45967415 45967415 single base substitution G A exon_variant MELA-AU 11 45967415 45967415 single base substitution G A intron_variant MELA-AU 11 45967415 45967415 single base substitution G A synonymous_variant S2S 6C>T MELA-AU 11 45967415 45967415 single base substitution G A synonymous_variant S475S 1425C>T MELA-AU 11 45967415 45967415 single base substitution G A synonymous_variant S476S 1428C>T MELA-AU 11 45967615 45967615 single base substitution G A exon_variant MELA-AU 11 45967615 45967615 single base substitution G A intron_variant MELA-AU 11 45967615 45967615 single base substitution G A upstream_gene_variant MELA-AU 11 45967772 45967772 single base substitution G A intron_variant MELA-AU 11 45967772 45967772 single base substitution G A upstream_gene_variant MELA-AU 11 45968131 45968131 single base substitution T C intron_variant MELA-AU 11 45968131 45968131 single base substitution T C upstream_gene_variant MELA-AU 11 45968183 45968183 single base substitution C T intron_variant MELA-AU 11 45968183 45968183 single base substitution C T upstream_gene_variant MELA-AU 11 45968214 45968214 single base substitution C T intron_variant MELA-AU 11 45968214 45968214 single base substitution C T upstream_gene_variant MELA-AU 11 45968376 45968376 single base substitution G T intron_variant MELA-AU 11 45968376 45968376 single base substitution G T upstream_gene_variant MELA-AU 11 45969073 45969073 single base substitution G A intron_variant MELA-AU 11 45969073 45969073 single base substitution G A upstream_gene_variant MELA-AU 11 45969711 45969711 single base substitution G A intron_variant MELA-AU 11 45969711 45969711 single base substitution G A upstream_gene_variant MELA-AU 11 45970061 45970061 single base substitution C G intron_variant MELA-AU 11 45970061 45970061 single base substitution C G upstream_gene_variant MELA-AU 11 45970679 45970679 single base substitution A C intron_variant MELA-AU 11 45970679 45970679 single base substitution A C upstream_gene_variant MELA-AU 11 45970782 45970782 single base substitution G A intron_variant MELA-AU 11 45970782 45970782 single base substitution G A upstream_gene_variant MELA-AU 11 45971123 45971123 single base substitution G A intron_variant MELA-AU 11 45971123 45971123 single base substitution G A upstream_gene_variant MELA-AU 11 45971186 45971186 single base substitution G A intron_variant MELA-AU 11 45971186 45971186 single base substitution G A upstream_gene_variant MELA-AU 11 45971437 45971437 single base substitution G A intron_variant MELA-AU 11 45971437 45971437 single base substitution G A upstream_gene_variant MELA-AU 11 45971555 45971555 single base substitution C T intron_variant MELA-AU 11 45971555 45971555 single base substitution C T upstream_gene_variant MELA-AU 11 45971890 45971890 single base substitution G A intron_variant MELA-AU 11 45971890 45971890 single base substitution G A upstream_gene_variant MELA-AU 11 45972085 45972085 single base substitution A T intron_variant MELA-AU 11 45972085 45972085 single base substitution A T upstream_gene_variant MELA-AU 11 45972457 45972457 single base substitution G A intron_variant MELA-AU 11 45972663 45972663 single base substitution C T intron_variant MELA-AU 11 45973039 45973039 single base substitution A C intron_variant MELA-AU 11 45973329 45973329 single base substitution G A intron_variant MELA-AU 11 45973927 45973927 single base substitution G A intron_variant MELA-AU 11 45974034 45974034 single base substitution G A intron_variant MELA-AU 11 45974092 45974092 single base substitution G A intron_variant MELA-AU 11 45974236 45974236 single base substitution C T intron_variant MELA-AU 11 45975185 45975185 single base substitution G A intron_variant MELA-AU 11 45975185 45975185 single base substitution G A upstream_gene_variant MELA-AU 11 45975206 45975206 single base substitution G A intron_variant MELA-AU 11 45975206 45975206 single base substitution G A upstream_gene_variant MELA-AU 11 45975326 45975326 single base substitution C T intron_variant MELA-AU 11 45975326 45975326 single base substitution C T upstream_gene_variant MELA-AU 11 45977307 45977307 single base substitution G A intron_variant MELA-AU 11 45977307 45977307 single base substitution G A upstream_gene_variant MELA-AU 11 45978103 45978103 single base substitution G A intron_variant MELA-AU 11 45978103 45978103 single base substitution G A upstream_gene_variant MELA-AU 11 45978580 45978580 single base substitution G A intron_variant MELA-AU 11 45978580 45978580 single base substitution G A upstream_gene_variant MELA-AU 11 45978806 45978806 single base substitution G A intron_variant MELA-AU 11 45978806 45978806 single base substitution G A upstream_gene_variant MELA-AU 11 45979584 45979584 single base substitution T C intron_variant MELA-AU 11 45979584 45979584 single base substitution T C upstream_gene_variant MELA-AU 11 45979699 45979699 single base substitution G A intron_variant MELA-AU 11 45979699 45979699 single base substitution G A upstream_gene_variant MELA-AU 11 45979942 45979942 single base substitution G A intron_variant MELA-AU 11 45979942 45979942 single base substitution G A upstream_gene_variant MELA-AU 11 45980168 45980168 single base substitution G A intron_variant MELA-AU 11 45980530 45980530 single base substitution G A intron_variant MELA-AU 11 45981133 45981133 single base substitution G A intron_variant MELA-AU 11 45981501 45981501 single base substitution C T intron_variant MELA-AU 11 45982843 45982843 single base substitution G A intron_variant MELA-AU 11 45982989 45982989 single base substitution G A intron_variant MELA-AU 11 45983368 45983368 single base substitution A G intron_variant MELA-AU 11 45983492 45983492 single base substitution G A intron_variant MELA-AU 11 45983625 45983625 single base substitution C T intron_variant MELA-AU 11 45983927 45983927 single base substitution G A intron_variant MELA-AU 11 45984262 45984262 single base substitution G A intron_variant MELA-AU 11 45984338 45984338 single base substitution G A intron_variant MELA-AU 11 45984370 45984371 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 11 45984612 45984612 single base substitution C A intron_variant MELA-AU 11 45985092 45985092 single base substitution G A intron_variant MELA-AU 11 45985541 45985541 single base substitution G A intron_variant MELA-AU 11 45986148 45986148 single base substitution T C intron_variant MELA-AU 11 45986439 45986439 single base substitution A C intron_variant MELA-AU 11 45986613 45986613 single base substitution G A intron_variant MELA-AU 11 45986625 45986626 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 45986626 45986626 single base substitution G A intron_variant MELA-AU 11 45987006 45987006 single base substitution G A exon_variant MELA-AU 11 45987006 45987006 single base substitution G A missense_variant R285C 853C>T MELA-AU 11 45987006 45987006 single base substitution G A missense_variant R286C 856C>T MELA-AU 11 45987253 45987253 single base substitution T A intron_variant MELA-AU 11 45987253 45987253 single base substitution T A upstream_gene_variant MELA-AU 11 45987503 45987503 single base substitution G A intron_variant MELA-AU 11 45987503 45987503 single base substitution G A upstream_gene_variant MELA-AU 11 45989148 45989148 single base substitution C T downstream_gene_variant MELA-AU 11 45989148 45989148 single base substitution C T intron_variant MELA-AU 11 45989148 45989148 single base substitution C T upstream_gene_variant MELA-AU 11 45989641 45989641 single base substitution G A downstream_gene_variant MELA-AU 11 45989641 45989641 single base substitution G A intron_variant MELA-AU 11 45989641 45989641 single base substitution G A upstream_gene_variant MELA-AU 11 45989902 45989902 single base substitution C T downstream_gene_variant MELA-AU 11 45989902 45989902 single base substitution C T intron_variant MELA-AU 11 45989902 45989902 single base substitution C T upstream_gene_variant MELA-AU 11 45990631 45990631 single base substitution G A downstream_gene_variant MELA-AU 11 45990631 45990631 single base substitution G A intron_variant MELA-AU 11 45990631 45990631 single base substitution G A upstream_gene_variant MELA-AU 11 45991116 45991116 single base substitution G A downstream_gene_variant MELA-AU 11 45991116 45991116 single base substitution G A intron_variant MELA-AU 11 45991116 45991116 single base substitution G A upstream_gene_variant MELA-AU 11 45991299 45991299 single base substitution T G downstream_gene_variant MELA-AU 11 45991299 45991299 single base substitution T G intron_variant MELA-AU 11 45991299 45991299 single base substitution T G upstream_gene_variant MELA-AU 11 45991315 45991316 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 45991315 45991316 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 45991315 45991316 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 45992930 45992930 single base substitution G A intron_variant MELA-AU 11 45992930 45992930 single base substitution G A upstream_gene_variant MELA-AU 11 45993020 45993020 single base substitution A T intron_variant MELA-AU 11 45993020 45993020 single base substitution A T upstream_gene_variant MELA-AU 11 45993919 45993919 single base substitution G A intron_variant MELA-AU 11 45993919 45993919 single base substitution G A upstream_gene_variant MELA-AU 11 45994037 45994037 single base substitution G A intron_variant MELA-AU 11 45994037 45994037 single base substitution G A upstream_gene_variant MELA-AU 11 45994088 45994088 single base substitution G A intron_variant MELA-AU 11 45994088 45994088 single base substitution G A upstream_gene_variant MELA-AU 11 45995929 45995929 single base substitution G A intron_variant MELA-AU 11 45995929 45995929 single base substitution G A upstream_gene_variant MELA-AU 11 45996554 45996554 single base substitution G A downstream_gene_variant MELA-AU 11 45996554 45996554 single base substitution G A intron_variant MELA-AU 11 45996554 45996554 single base substitution G A upstream_gene_variant MELA-AU 11 45996576 45996576 single base substitution G A downstream_gene_variant MELA-AU 11 45996576 45996576 single base substitution G A intron_variant MELA-AU 11 45996576 45996576 single base substitution G A upstream_gene_variant MELA-AU 11 45998125 45998125 single base substitution G A downstream_gene_variant MELA-AU 11 45998125 45998125 single base substitution G A intron_variant MELA-AU 11 45999218 45999218 single base substitution G A downstream_gene_variant MELA-AU 11 45999218 45999218 single base substitution G A intron_variant MELA-AU 11 45999324 45999324 single base substitution G A downstream_gene_variant MELA-AU 11 45999324 45999324 single base substitution G A intron_variant MELA-AU 11 45999506 45999506 single base substitution G A downstream_gene_variant MELA-AU 11 45999506 45999506 single base substitution G A intron_variant MELA-AU 11 46000275 46000275 single base substitution G A downstream_gene_variant MELA-AU 11 46000275 46000275 single base substitution G A intron_variant MELA-AU 11 46000276 46000276 single base substitution G A downstream_gene_variant MELA-AU 11 46000276 46000276 single base substitution G A intron_variant MELA-AU 11 46001759 46001759 single base substitution C T intron_variant MELA-AU 11 46002467 46002467 single base substitution G A intron_variant MELA-AU 11 46002952 46002952 single base substitution A G intron_variant MELA-AU 11 46002953 46002953 single base substitution A G intron_variant MELA-AU 11 46004214 46004214 single base substitution T A intron_variant MELA-AU 11 46004233 46004233 single base substitution C T intron_variant MELA-AU 11 46004365 46004365 single base substitution A T intron_variant MELA-AU 11 46004806 46004806 single base substitution G A intron_variant MELA-AU 11 46005557 46005557 single base substitution G A intron_variant MELA-AU 11 46005660 46005661 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46005716 46005716 single base substitution G T intron_variant MELA-AU 11 46005880 46005880 single base substitution G A intron_variant MELA-AU 11 46005934 46005934 single base substitution C T intron_variant MELA-AU 11 46006717 46006717 single base substitution G A intron_variant MELA-AU 11 46008080 46008080 single base substitution G A intron_variant MELA-AU 11 46009002 46009002 single base substitution G A intron_variant MELA-AU 11 46009094 46009094 single base substitution C T intron_variant MELA-AU 11 46009921 46009921 single base substitution C T intron_variant MELA-AU 11 46010269 46010269 single base substitution C T intron_variant MELA-AU 11 46010369 46010369 single base substitution G A intron_variant MELA-AU 11 46010448 46010448 single base substitution G A intron_variant MELA-AU 11 46012314 46012314 single base substitution A G intron_variant MELA-AU 11 46013370 46013370 single base substitution A C intron_variant MELA-AU 11 46014440 46014440 single base substitution G T intron_variant MELA-AU 11 46014567 46014567 single base substitution G A intron_variant MELA-AU 11 46015267 46015267 single base substitution A C intron_variant MELA-AU 11 46016205 46016205 single base substitution G A intron_variant MELA-AU 11 46016524 46016524 single base substitution G A intron_variant MELA-AU 11 46016946 46016946 single base substitution G A intron_variant MELA-AU 11 46017641 46017641 single base substitution T A intron_variant MELA-AU 11 46017948 46017948 single base substitution C T intron_variant MELA-AU 11 46019628 46019628 single base substitution G A intron_variant MELA-AU 11 46019799 46019799 single base substitution C T intron_variant MELA-AU 11 46019917 46019917 single base substitution G A intron_variant MELA-AU 11 46020329 46020329 single base substitution C T intron_variant MELA-AU 11 46020592 46020592 single base substitution G A intron_variant MELA-AU 11 46021453 46021453 single base substitution G A intron_variant MELA-AU 11 46021899 46021899 single base substitution G A intron_variant MELA-AU 11 46021980 46021980 single base substitution G A intron_variant MELA-AU 11 46022140 46022140 single base substitution G A intron_variant MELA-AU 11 46023123 46023123 single base substitution G A intron_variant MELA-AU 11 46023458 46023458 single base substitution G A intron_variant MELA-AU 11 46024072 46024072 deletion of <=200bp G - intron_variant MELA-AU 11 46024077 46024077 single base substitution A G intron_variant MELA-AU 11 46024087 46024087 single base substitution G A intron_variant MELA-AU 11 46024184 46024184 single base substitution A G intron_variant MELA-AU 11 46024963 46024963 single base substitution G A intron_variant MELA-AU 11 46025448 46025448 single base substitution G A intron_variant MELA-AU 11 46026470 46026470 single base substitution G A intron_variant MELA-AU 11 46026618 46026619 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 46027458 46027458 single base substitution C T intron_variant MELA-AU 11 46028506 46028506 single base substitution A C intron_variant MELA-AU 11 46028661 46028662 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 11 46028700 46028700 single base substitution A C intron_variant MELA-AU 11 46028890 46028890 single base substitution G A intron_variant MELA-AU 11 46029016 46029016 single base substitution G A intron_variant MELA-AU 11 46029828 46029828 single base substitution G A intron_variant MELA-AU 11 46030727 46030727 single base substitution G A intron_variant MELA-AU 11 46030760 46030760 single base substitution G A intron_variant MELA-AU 11 46031124 46031124 single base substitution A G intron_variant MELA-AU 11 46034500 46034500 single base substitution A G intron_variant MELA-AU 11 46035687 46035687 single base substitution G A intron_variant MELA-AU 11 46036068 46036068 single base substitution G T intron_variant MELA-AU 11 46036968 46036968 single base substitution A G intron_variant MELA-AU 11 46037020 46037020 single base substitution T C intron_variant MELA-AU 11 46037414 46037414 single base substitution G A intron_variant MELA-AU 11 46037967 46037967 single base substitution C T intron_variant MELA-AU 11 46038038 46038038 single base substitution A C intron_variant MELA-AU 11 46038158 46038158 single base substitution G A intron_variant MELA-AU 11 46038812 46038812 single base substitution A C intron_variant MELA-AU 11 46038877 46038877 single base substitution G A intron_variant MELA-AU 11 46039134 46039134 single base substitution A G intron_variant MELA-AU 11 46039197 46039197 single base substitution T A intron_variant MELA-AU 11 46039314 46039314 single base substitution A G intron_variant MELA-AU 11 46040777 46040777 single base substitution G A intron_variant MELA-AU 11 46040787 46040787 single base substitution G A intron_variant MELA-AU 11 46040798 46040798 single base substitution C T intron_variant MELA-AU 11 46040827 46040827 single base substitution G A intron_variant MELA-AU 11 46041532 46041532 single base substitution A G intron_variant MELA-AU 11 46041714 46041714 single base substitution T A intron_variant MELA-AU 11 46043232 46043232 single base substitution A G intron_variant MELA-AU 11 46043586 46043586 single base substitution A G intron_variant MELA-AU 11 46044251 46044251 single base substitution G A intron_variant MELA-AU 11 46044291 46044291 single base substitution G A intron_variant MELA-AU 11 46044932 46044932 single base substitution G A intron_variant MELA-AU 11 46045415 46045415 single base substitution G A intron_variant MELA-AU 11 46045426 46045426 single base substitution G A intron_variant MELA-AU 11 46045681 46045681 single base substitution G A intron_variant MELA-AU 11 46046050 46046050 single base substitution T C intron_variant MELA-AU 11 46046382 46046382 single base substitution G A intron_variant MELA-AU 11 46046704 46046704 single base substitution G A intron_variant MELA-AU 11 46046890 46046890 single base substitution G A intron_variant MELA-AU 11 46047233 46047233 single base substitution A C intron_variant MELA-AU 11 46047354 46047354 single base substitution T C intron_variant MELA-AU 11 46047853 46047853 single base substitution G A intron_variant MELA-AU 11 46047881 46047881 single base substitution G A intron_variant MELA-AU 11 46047936 46047936 single base substitution G A intron_variant MELA-AU 11 46048817 46048817 single base substitution G A intron_variant MELA-AU 11 46048817 46048817 single base substitution G A upstream_gene_variant MELA-AU 11 46048909 46048909 single base substitution G A intron_variant MELA-AU 11 46048909 46048909 single base substitution G A upstream_gene_variant MELA-AU 11 46049528 46049528 single base substitution G A intron_variant MELA-AU 11 46049528 46049528 single base substitution G A upstream_gene_variant MELA-AU 11 46050043 46050043 single base substitution C G intron_variant MELA-AU 11 46050043 46050043 single base substitution C G upstream_gene_variant MELA-AU 11 46050290 46050290 single base substitution A G intron_variant MELA-AU 11 46050290 46050290 single base substitution A G upstream_gene_variant MELA-AU 11 46050680 46050680 single base substitution G A intron_variant MELA-AU 11 46050680 46050680 single base substitution G A upstream_gene_variant MELA-AU 11 46050990 46050990 single base substitution A C intron_variant MELA-AU 11 46050990 46050990 single base substitution A C upstream_gene_variant MELA-AU 11 46051940 46051940 single base substitution G A intron_variant MELA-AU 11 46051940 46051940 single base substitution G A upstream_gene_variant MELA-AU 11 46052140 46052140 single base substitution T G intron_variant MELA-AU 11 46052140 46052140 single base substitution T G upstream_gene_variant MELA-AU 11 46052381 46052381 single base substitution C T intron_variant MELA-AU 11 46052381 46052381 single base substitution C T upstream_gene_variant MELA-AU 11 46052506 46052506 single base substitution A C intron_variant MELA-AU 11 46052506 46052506 single base substitution A C upstream_gene_variant MELA-AU 11 46053301 46053301 single base substitution G A intron_variant MELA-AU 11 46053301 46053301 single base substitution G A upstream_gene_variant MELA-AU 11 46053324 46053324 single base substitution C T intron_variant MELA-AU 11 46053324 46053324 single base substitution C T upstream_gene_variant MELA-AU 11 46054817 46054817 single base substitution G A intron_variant MELA-AU 11 46055274 46055274 single base substitution G A intron_variant MELA-AU 11 46056933 46056933 single base substitution C T intron_variant MELA-AU 11 46057271 46057271 single base substitution G A intron_variant MELA-AU 11 46058385 46058385 single base substitution G A intron_variant MELA-AU 11 46059486 46059486 single base substitution A G intron_variant MELA-AU 11 46059838 46059838 single base substitution C T intron_variant MELA-AU 11 46060379 46060379 single base substitution G A intron_variant MELA-AU 11 46060441 46060441 single base substitution G A intron_variant MELA-AU 11 46060623 46060623 single base substitution G A intron_variant MELA-AU 11 46063513 46063513 single base substitution G A intron_variant MELA-AU 11 46063640 46063640 single base substitution G A intron_variant MELA-AU 11 46064744 46064744 single base substitution A T intron_variant MELA-AU 11 46065419 46065419 single base substitution A G intron_variant MELA-AU 11 46066085 46066085 single base substitution G A intron_variant MELA-AU 11 46066461 46066461 single base substitution G A intron_variant MELA-AU 11 46068510 46068510 single base substitution G A intron_variant MELA-AU 11 46068663 46068663 single base substitution G A intron_variant MELA-AU 11 46068869 46068869 single base substitution G T intron_variant MELA-AU 11 46069022 46069022 single base substitution T A intron_variant MELA-AU 11 46069345 46069345 single base substitution G A intron_variant MELA-AU 11 46069827 46069827 single base substitution G A intron_variant MELA-AU 11 46071266 46071266 single base substitution C T intron_variant MELA-AU 11 46073509 46073509 single base substitution C A intron_variant MELA-AU 11 46073869 46073869 single base substitution C T intron_variant MELA-AU 11 46074172 46074172 single base substitution G A intron_variant MELA-AU 11 46074536 46074536 single base substitution G A intron_variant MELA-AU 11 46075016 46075016 single base substitution A C intron_variant MELA-AU 11 46075733 46075733 single base substitution G A intron_variant MELA-AU 11 46075744 46075744 single base substitution A G intron_variant MELA-AU 11 46076040 46076040 single base substitution G A intron_variant MELA-AU 11 46076081 46076081 single base substitution G A intron_variant MELA-AU 11 46076253 46076253 single base substitution G A intron_variant MELA-AU 11 46076313 46076313 single base substitution G A intron_variant MELA-AU 11 46080294 46080294 single base substitution G A intron_variant MELA-AU 11 46080401 46080401 single base substitution G A intron_variant MELA-AU 11 46080413 46080413 single base substitution G A intron_variant MELA-AU 11 46080653 46080653 single base substitution G A intron_variant MELA-AU 11 46081465 46081465 single base substitution G A intron_variant MELA-AU 11 46081466 46081466 single base substitution G A intron_variant MELA-AU 11 46081490 46081490 single base substitution C T intron_variant MELA-AU 11 46081563 46081563 single base substitution G A intron_variant MELA-AU 11 46081643 46081643 single base substitution G A intron_variant MELA-AU 11 46082919 46082919 single base substitution G A intron_variant MELA-AU 11 46083222 46083222 single base substitution T G intron_variant MELA-AU 11 46084299 46084299 single base substitution G A intron_variant MELA-AU 11 46084488 46084488 single base substitution G A intron_variant MELA-AU 11 46084735 46084735 single base substitution G A intron_variant MELA-AU 11 46086013 46086013 single base substitution C T intron_variant MELA-AU 11 46087074 46087074 single base substitution C T intron_variant MELA-AU 11 46088145 46088145 single base substitution G A intron_variant MELA-AU 11 46088208 46088209 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 46089202 46089202 single base substitution G A intron_variant MELA-AU 11 46089611 46089611 single base substitution G A intron_variant MELA-AU 11 46090755 46090755 single base substitution G A intron_variant MELA-AU 11 46090960 46090960 single base substitution C T intron_variant MELA-AU 11 46091693 46091693 single base substitution C T intron_variant MELA-AU 11 46092216 46092216 single base substitution G A intron_variant MELA-AU 11 46092267 46092267 single base substitution G A intron_variant MELA-AU 11 46093221 46093221 single base substitution C T intron_variant MELA-AU 11 46094210 46094212 deletion of <=200bp ATA - downstream_gene_variant MELA-AU 11 46094210 46094212 deletion of <=200bp ATA - intron_variant MELA-AU 11 46094295 46094295 single base substitution G A downstream_gene_variant MELA-AU 11 46094295 46094295 single base substitution G A intron_variant MELA-AU 11 46094326 46094326 single base substitution G A downstream_gene_variant MELA-AU 11 46094326 46094326 single base substitution G A intron_variant MELA-AU 11 46094334 46094334 single base substitution G A downstream_gene_variant MELA-AU 11 46094334 46094334 single base substitution G A intron_variant MELA-AU 11 46094793 46094793 single base substitution G A downstream_gene_variant MELA-AU 11 46094793 46094793 single base substitution G A intron_variant MELA-AU 11 46095865 46095866 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 11 46095865 46095866 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 11 46096013 46096013 deletion of <=200bp A - downstream_gene_variant MELA-AU 11 46096013 46096013 deletion of <=200bp A - intron_variant MELA-AU 11 46096387 46096387 single base substitution C T downstream_gene_variant MELA-AU 11 46096387 46096387 single base substitution C T intron_variant MELA-AU 11 46096913 46096914 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 46096913 46096914 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46096984 46096984 single base substitution G A downstream_gene_variant MELA-AU 11 46096984 46096984 single base substitution G A intron_variant MELA-AU 11 46097225 46097225 single base substitution G A downstream_gene_variant MELA-AU 11 46097225 46097225 single base substitution G A intron_variant MELA-AU 11 46098606 46098606 single base substitution G A downstream_gene_variant MELA-AU 11 46098606 46098606 single base substitution G A intron_variant MELA-AU 11 46098940 46098940 single base substitution C T downstream_gene_variant MELA-AU 11 46098940 46098940 single base substitution C T intron_variant MELA-AU 11 46099240 46099240 single base substitution T G downstream_gene_variant MELA-AU 11 46099240 46099240 single base substitution T G intron_variant MELA-AU 11 46099716 46099716 single base substitution A C downstream_gene_variant MELA-AU 11 46099716 46099716 single base substitution A C intron_variant MELA-AU 11 46100584 46100584 single base substitution C T downstream_gene_variant MELA-AU 11 46100584 46100584 single base substitution C T intron_variant MELA-AU 11 46100627 46100627 single base substitution T C downstream_gene_variant MELA-AU 11 46100627 46100627 single base substitution T C intron_variant MELA-AU 11 46101388 46101388 single base substitution G A downstream_gene_variant MELA-AU 11 46101388 46101388 single base substitution G A intron_variant MELA-AU 11 46102198 46102198 single base substitution A G downstream_gene_variant MELA-AU 11 46102198 46102198 single base substitution A G intron_variant MELA-AU 11 46102590 46102590 single base substitution G A downstream_gene_variant MELA-AU 11 46102590 46102590 single base substitution G A intron_variant MELA-AU 11 46103088 46103088 single base substitution G A downstream_gene_variant MELA-AU 11 46103088 46103088 single base substitution G A intron_variant MELA-AU 11 46103118 46103118 single base substitution A C downstream_gene_variant MELA-AU 11 46103118 46103118 single base substitution A C intron_variant MELA-AU 11 46103320 46103320 single base substitution A C downstream_gene_variant MELA-AU 11 46103320 46103320 single base substitution A C intron_variant MELA-AU 11 46103350 46103350 single base substitution G A downstream_gene_variant MELA-AU 11 46103350 46103350 single base substitution G A intron_variant MELA-AU 11 46104204 46104204 single base substitution G A downstream_gene_variant MELA-AU 11 46104204 46104204 single base substitution G A intron_variant MELA-AU 11 46104935 46104935 single base substitution G A downstream_gene_variant MELA-AU 11 46104935 46104935 single base substitution G A intron_variant MELA-AU 11 46105870 46105870 single base substitution A G intron_variant MELA-AU 11 46105987 46105987 single base substitution T C intron_variant MELA-AU 11 46106606 46106606 single base substitution G A intron_variant MELA-AU 11 46106973 46106973 single base substitution C T intron_variant MELA-AU 11 46106999 46106999 single base substitution A C intron_variant MELA-AU 11 46107344 46107344 single base substitution G A downstream_gene_variant MELA-AU 11 46107344 46107344 single base substitution G A intron_variant MELA-AU 11 46108994 46108994 single base substitution A G downstream_gene_variant MELA-AU 11 46108994 46108994 single base substitution A G intron_variant MELA-AU 11 46109288 46109288 single base substitution G A downstream_gene_variant MELA-AU 11 46109288 46109288 single base substitution G A intron_variant MELA-AU 11 46111168 46111168 single base substitution A T downstream_gene_variant MELA-AU 11 46111168 46111168 single base substitution A T intron_variant MELA-AU 11 46111334 46111334 single base substitution C T downstream_gene_variant MELA-AU 11 46111334 46111334 single base substitution C T intron_variant MELA-AU 11 46111660 46111660 single base substitution G A downstream_gene_variant MELA-AU 11 46111660 46111660 single base substitution G A intron_variant MELA-AU 11 46111931 46111931 single base substitution G A downstream_gene_variant MELA-AU 11 46111931 46111931 single base substitution G A intron_variant MELA-AU 11 46112112 46112112 single base substitution G A 5_prime_UTR_variant MELA-AU 11 46112112 46112112 single base substitution G A exon_variant MELA-AU 11 46112112 46112112 single base substitution G A intron_variant MELA-AU 11 46112606 46112606 single base substitution A T intron_variant MELA-AU 11 46112994 46112994 single base substitution G A intron_variant MELA-AU 11 46113265 46113265 single base substitution A C intron_variant MELA-AU 11 46114147 46114147 single base substitution G A intron_variant MELA-AU 11 46114147 46114147 single base substitution G A upstream_gene_variant MELA-AU 11 46114834 46114835 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 46114834 46114835 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 46116086 46116086 single base substitution G A intron_variant MELA-AU 11 46116086 46116086 single base substitution G A upstream_gene_variant MELA-AU 11 46116345 46116345 single base substitution G A intron_variant MELA-AU 11 46116345 46116345 single base substitution G A upstream_gene_variant MELA-AU 11 46116635 46116635 single base substitution G A intron_variant MELA-AU 11 46116635 46116635 single base substitution G A upstream_gene_variant MELA-AU 11 46117539 46117539 single base substitution G A intron_variant MELA-AU 11 46117539 46117539 single base substitution G A upstream_gene_variant MELA-AU 11 46118062 46118062 single base substitution C T intron_variant MELA-AU 11 46118062 46118062 single base substitution C T upstream_gene_variant MELA-AU 11 46118940 46118940 single base substitution C T intron_variant MELA-AU 11 46119054 46119054 single base substitution A G intron_variant MELA-AU 11 46119070 46119070 single base substitution A G intron_variant MELA-AU 11 46119253 46119253 single base substitution C T intron_variant MELA-AU 11 46119467 46119467 single base substitution A G intron_variant MELA-AU 11 46120602 46120602 single base substitution A T intron_variant MELA-AU 11 46120749 46120749 single base substitution G A intron_variant MELA-AU 11 46120971 46120971 single base substitution T A intron_variant MELA-AU 11 46121348 46121348 single base substitution A G intron_variant MELA-AU 11 46123131 46123131 single base substitution C T intron_variant MELA-AU 11 46123232 46123232 single base substitution G A intron_variant MELA-AU 11 46124027 46124027 single base substitution G A intron_variant MELA-AU 11 46124284 46124285 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 11 46125652 46125652 single base substitution G A intron_variant MELA-AU 11 46125831 46125831 single base substitution G A intron_variant MELA-AU 11 46127565 46127565 single base substitution A T intron_variant MELA-AU 11 46129283 46129283 single base substitution A G intron_variant MELA-AU 11 46129502 46129502 single base substitution C T intron_variant MELA-AU 11 46130286 46130286 single base substitution C T intron_variant MELA-AU 11 46131351 46131351 single base substitution G A intron_variant MELA-AU 11 46131821 46131821 single base substitution G A intron_variant MELA-AU 11 46133004 46133004 single base substitution G A intron_variant MELA-AU 11 46133729 46133729 single base substitution G A intron_variant MELA-AU 11 46134906 46134906 single base substitution G A intron_variant MELA-AU 11 46137000 46137000 single base substitution A G downstream_gene_variant MELA-AU 11 46137000 46137000 single base substitution A G intron_variant MELA-AU 11 46137031 46137031 single base substitution A G downstream_gene_variant MELA-AU 11 46137031 46137031 single base substitution A G intron_variant MELA-AU 11 46137561 46137561 single base substitution G A downstream_gene_variant MELA-AU 11 46137561 46137561 single base substitution G A intron_variant MELA-AU 11 46138413 46138413 single base substitution G A downstream_gene_variant MELA-AU 11 46138413 46138413 single base substitution G A intron_variant MELA-AU 11 46138494 46138494 single base substitution G A downstream_gene_variant MELA-AU 11 46138494 46138494 single base substitution G A intron_variant MELA-AU 11 46139719 46139719 single base substitution A G downstream_gene_variant MELA-AU 11 46139719 46139719 single base substitution A G intron_variant MELA-AU 11 46140882 46140882 single base substitution T C downstream_gene_variant MELA-AU 11 46140882 46140882 single base substitution T C intron_variant MELA-AU 11 46142399 46142399 single base substitution G A intron_variant MELA-AU 11 46142399 46142399 single base substitution G A upstream_gene_variant MELA-AU 11 46142466 46142466 single base substitution G A intron_variant MELA-AU 11 46142466 46142466 single base substitution G A upstream_gene_variant MELA-AU 11 46142635 46142635 single base substitution G A 5_prime_UTR_variant MELA-AU 11 46142635 46142635 single base substitution G A upstream_gene_variant MELA-AU 11 46142643 46142643 single base substitution G T 5_prime_UTR_variant MELA-AU 11 46142643 46142643 single base substitution G T upstream_gene_variant MELA-AU 11 46144113 46144113 single base substitution C T upstream_gene_variant MELA-AU 11 46144288 46144288 single base substitution G A upstream_gene_variant MELA-AU 11 46145194 46145194 single base substitution G A upstream_gene_variant MELA-AU 11 46145576 46145576 single base substitution A G upstream_gene_variant MELA-AU 11 46145673 46145673 single base substitution T C upstream_gene_variant MELA-AU 11 46146087 46146087 single base substitution G A upstream_gene_variant MELA-AU 11 46146224 46146224 single base substitution G A upstream_gene_variant MELA-AU 11 46146659 46146659 single base substitution G T upstream_gene_variant MELA-AU 11 46146930 46146930 single base substitution C T upstream_gene_variant MELA-AU 11 46147599 46147599 single base substitution C T upstream_gene_variant MELA-AU 11 46147600 46147600 single base substitution A G upstream_gene_variant MELA-AU 11 46147602 46147602 single base substitution G A upstream_gene_variant MELA-AU 11 46147706 46147706 single base substitution G A upstream_gene_variant ORCA-IN 11 45973088 45973088 single base substitution C G intron_variant ORCA-IN 11 45985307 45985307 single base substitution G C intron_variant ORCA-IN 11 45995975 45995975 single base substitution T A intron_variant ORCA-IN 11 45995975 45995975 single base substitution T A upstream_gene_variant ORCA-IN 11 45996462 45996462 single base substitution G C downstream_gene_variant ORCA-IN 11 45996462 45996462 single base substitution G C intron_variant ORCA-IN 11 45996462 45996462 single base substitution G C upstream_gene_variant ORCA-IN 11 46008801 46008802 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant ORCA-IN 11 46029174 46029174 single base substitution C G intron_variant ORCA-IN 11 46037724 46037724 single base substitution C G intron_variant ORCA-IN 11 46041525 46041525 single base substitution A G intron_variant ORCA-IN 11 46052371 46052371 single base substitution C T intron_variant ORCA-IN 11 46052371 46052371 single base substitution C T upstream_gene_variant ORCA-IN 11 46067518 46067518 single base substitution G A intron_variant ORCA-IN 11 46087497 46087497 single base substitution G C intron_variant ORCA-IN 11 46093257 46093257 single base substitution A G intron_variant ORCA-IN 11 46098473 46098473 single base substitution G A downstream_gene_variant ORCA-IN 11 46098473 46098473 single base substitution G A intron_variant ORCA-IN 11 46121107 46121107 single base substitution A C intron_variant ORCA-IN 11 46147551 46147551 single base substitution C T upstream_gene_variant OV-AU 11 45957407 45957407 single base substitution C G downstream_gene_variant OV-AU 11 45957407 45957407 single base substitution C G intron_variant OV-AU 11 45960084 45960084 single base substitution G C intron_variant OV-AU 11 45960084 45960084 single base substitution G C upstream_gene_variant OV-AU 11 45969675 45969675 single base substitution G C intron_variant OV-AU 11 45969675 45969675 single base substitution G C upstream_gene_variant OV-AU 11 45970516 45970516 single base substitution G T intron_variant OV-AU 11 45970516 45970516 single base substitution G T upstream_gene_variant OV-AU 11 45972442 45972442 single base substitution A T intron_variant OV-AU 11 45981495 45981495 single base substitution C A intron_variant OV-AU 11 45982339 45982339 single base substitution G C intron_variant OV-AU 11 45989579 45989579 single base substitution A G downstream_gene_variant OV-AU 11 45989579 45989579 single base substitution A G intron_variant OV-AU 11 45989579 45989579 single base substitution A G upstream_gene_variant OV-AU 11 45990687 45990687 single base substitution G T downstream_gene_variant OV-AU 11 45990687 45990687 single base substitution G T intron_variant OV-AU 11 45990687 45990687 single base substitution G T upstream_gene_variant OV-AU 11 45992055 45992055 single base substitution G C downstream_gene_variant OV-AU 11 45992055 45992055 single base substitution G C exon_variant OV-AU 11 45992055 45992055 single base substitution G C intron_variant OV-AU 11 45993180 45993180 single base substitution T A intron_variant OV-AU 11 45993180 45993180 single base substitution T A upstream_gene_variant OV-AU 11 45994530 45994530 single base substitution G A intron_variant OV-AU 11 45994530 45994530 single base substitution G A upstream_gene_variant OV-AU 11 46019642 46019642 single base substitution A T intron_variant OV-AU 11 46026059 46026059 single base substitution G T intron_variant OV-AU 11 46028682 46028682 single base substitution G A intron_variant OV-AU 11 46032072 46032072 single base substitution T C intron_variant OV-AU 11 46035225 46035225 single base substitution G C intron_variant OV-AU 11 46041819 46041819 single base substitution C G intron_variant OV-AU 11 46046959 46046959 single base substitution C T intron_variant OV-AU 11 46047714 46047714 single base substitution C T intron_variant OV-AU 11 46048617 46048617 single base substitution C T exon_variant OV-AU 11 46048617 46048617 single base substitution C T intron_variant OV-AU 11 46050248 46050248 single base substitution C A intron_variant OV-AU 11 46050248 46050248 single base substitution C A upstream_gene_variant OV-AU 11 46052714 46052714 single base substitution G T intron_variant OV-AU 11 46052714 46052714 single base substitution G T upstream_gene_variant OV-AU 11 46053670 46053670 single base substitution A G intron_variant OV-AU 11 46053683 46053683 single base substitution C G intron_variant OV-AU 11 46054013 46054013 single base substitution T A intron_variant OV-AU 11 46054975 46054975 single base substitution C G intron_variant OV-AU 11 46056007 46056007 single base substitution C A intron_variant OV-AU 11 46057051 46057051 single base substitution G T intron_variant OV-AU 11 46061167 46061167 single base substitution T C intron_variant OV-AU 11 46061547 46061547 single base substitution G C intron_variant OV-AU 11 46065559 46065559 single base substitution G A intron_variant OV-AU 11 46080372 46080372 single base substitution G C intron_variant OV-AU 11 46099775 46099775 single base substitution T G downstream_gene_variant OV-AU 11 46099775 46099775 single base substitution T G intron_variant OV-AU 11 46102307 46102307 single base substitution C A downstream_gene_variant OV-AU 11 46102307 46102307 single base substitution C A intron_variant OV-AU 11 46102894 46102894 single base substitution T C downstream_gene_variant OV-AU 11 46102894 46102894 single base substitution T C intron_variant OV-AU 11 46103484 46103484 single base substitution A G downstream_gene_variant OV-AU 11 46103484 46103484 single base substitution A G intron_variant OV-AU 11 46106610 46106610 single base substitution G T intron_variant OV-AU 11 46112629 46112629 single base substitution A G intron_variant OV-AU 11 46114852 46114852 single base substitution T C intron_variant OV-AU 11 46114852 46114852 single base substitution T C upstream_gene_variant OV-AU 11 46121608 46121608 single base substitution G A intron_variant OV-AU 11 46122820 46122820 single base substitution A G intron_variant OV-AU 11 46130169 46130169 single base substitution T A intron_variant OV-AU 11 46137739 46137739 single base substitution T A downstream_gene_variant OV-AU 11 46137739 46137739 single base substitution T A intron_variant OV-AU 11 46147254 46147254 single base substitution G C upstream_gene_variant OV-US 11 45948276 45948276 single base substitution G A downstream_gene_variant PACA-AU 11 45947089 45947089 single base substitution C T downstream_gene_variant PACA-AU 11 45949614 45949614 single base substitution C T downstream_gene_variant PACA-AU 11 45952698 45952698 single base substitution G A 3_prime_UTR_variant PACA-AU 11 45952698 45952698 single base substitution G A downstream_gene_variant PACA-AU 11 45952698 45952698 single base substitution G A exon_variant PACA-AU 11 45955629 45955646 deletion of <=200bp TGGAGATGGCCCCCACAG - 3_prime_UTR_variant PACA-AU 11 45955629 45955646 deletion of <=200bp TGGAGATGGCCCCCACAG - disruptive_inframe_deletion TVGAISN114N PACA-AU 11 45955629 45955646 deletion of <=200bp TGGAGATGGCCCCCACAG - disruptive_inframe_deletion TVGAISN593N PACA-AU 11 45955629 45955646 deletion of <=200bp TGGAGATGGCCCCCACAG - disruptive_inframe_deletion TVGAISN639N PACA-AU 11 45955629 45955646 deletion of <=200bp TGGAGATGGCCCCCACAG - disruptive_inframe_deletion TVGAISN640N PACA-AU 11 45955629 45955646 deletion of <=200bp TGGAGATGGCCCCCACAG - downstream_gene_variant PACA-AU 11 45955629 45955646 deletion of <=200bp TGGAGATGGCCCCCACAG - exon_variant PACA-AU 11 45958956 45958956 single base substitution C T downstream_gene_variant PACA-AU 11 45958956 45958956 single base substitution C T intron_variant PACA-AU 11 45958956 45958956 single base substitution C T upstream_gene_variant PACA-AU 11 45961749 45961749 single base substitution C T intron_variant PACA-AU 11 45961749 45961749 single base substitution C T upstream_gene_variant PACA-AU 11 45963343 45963343 single base substitution G A intron_variant PACA-AU 11 45963343 45963343 single base substitution G A upstream_gene_variant PACA-AU 11 45968322 45968322 single base substitution C T intron_variant PACA-AU 11 45968322 45968322 single base substitution C T upstream_gene_variant PACA-AU 11 45976807 45976807 single base substitution G A intron_variant PACA-AU 11 45976807 45976807 single base substitution G A upstream_gene_variant PACA-AU 11 45979317 45979317 single base substitution A G intron_variant PACA-AU 11 45979317 45979317 single base substitution A G upstream_gene_variant PACA-AU 11 45980020 45980020 single base substitution C T intron_variant PACA-AU 11 45980020 45980020 single base substitution C T upstream_gene_variant PACA-AU 11 45982541 45982542 deletion of <=200bp CA - intron_variant PACA-AU 11 45987069 45987069 single base substitution C T exon_variant PACA-AU 11 45987069 45987069 single base substitution C T missense_variant V264I 790G>A PACA-AU 11 45987069 45987069 single base substitution C T missense_variant V265I 793G>A PACA-AU 11 45987069 45987069 single base substitution C T upstream_gene_variant PACA-AU 11 45996933 45996933 single base substitution C T downstream_gene_variant PACA-AU 11 45996933 45996933 single base substitution C T intron_variant PACA-AU 11 45996933 45996933 single base substitution C T upstream_gene_variant PACA-AU 11 45999725 45999725 single base substitution C A downstream_gene_variant PACA-AU 11 45999725 45999725 single base substitution C A intron_variant PACA-AU 11 46003800 46003800 single base substitution G A intron_variant PACA-AU 11 46004856 46004856 single base substitution A G intron_variant PACA-AU 11 46005458 46005480 deletion of <=200bp ACAGGAGATGAGCCTATATTTTT - intron_variant PACA-AU 11 46010165 46010165 single base substitution C T intron_variant PACA-AU 11 46010448 46010448 single base substitution G A intron_variant PACA-AU 11 46015059 46015059 single base substitution T C intron_variant PACA-AU 11 46027682 46027682 single base substitution G C intron_variant PACA-AU 11 46028874 46028874 single base substitution T C intron_variant PACA-AU 11 46038927 46038927 single base substitution G A intron_variant PACA-AU 11 46041931 46041931 single base substitution G A intron_variant PACA-AU 11 46059884 46059884 single base substitution G A intron_variant PACA-AU 11 46059885 46059885 single base substitution G A intron_variant PACA-AU 11 46060609 46060609 single base substitution C A intron_variant PACA-AU 11 46065945 46065945 single base substitution C T intron_variant PACA-AU 11 46067669 46067680 deletion of <=200bp CTCCATCTTTTG - intron_variant PACA-AU 11 46072565 46072565 single base substitution T A intron_variant PACA-AU 11 46073380 46073380 single base substitution G A intron_variant PACA-AU 11 46090715 46090756 deletion of <=200bp ATCTCATCTTGGCTGAATATAAGCCAATAGGATTTCACCAGG - intron_variant PACA-AU 11 46101719 46101719 single base substitution T C downstream_gene_variant PACA-AU 11 46101719 46101719 single base substitution T C intron_variant PACA-AU 11 46104952 46104952 single base substitution T C downstream_gene_variant PACA-AU 11 46104952 46104952 single base substitution T C intron_variant PACA-AU 11 46109223 46109223 single base substitution C A downstream_gene_variant PACA-AU 11 46109223 46109223 single base substitution C A intron_variant PACA-AU 11 46110021 46110021 single base substitution C A downstream_gene_variant PACA-AU 11 46110021 46110021 single base substitution C A intron_variant PACA-AU 11 46118504 46118504 single base substitution C A intron_variant PACA-AU 11 46118504 46118504 single base substitution C A upstream_gene_variant PACA-AU 11 46119072 46119072 single base substitution A C intron_variant PACA-AU 11 46122954 46122954 single base substitution C T intron_variant PACA-AU 11 46123122 46123122 single base substitution T A intron_variant PACA-AU 11 46133027 46133030 deletion of <=200bp AAAT - intron_variant PACA-AU 11 46133789 46133789 single base substitution C A intron_variant PACA-AU 11 46135243 46135243 single base substitution G A intron_variant PACA-AU 11 46135394 46135394 single base substitution A G intron_variant PACA-AU 11 46136227 46136227 single base substitution A T intron_variant PACA-CA 11 45947053 45947053 single base substitution A C downstream_gene_variant PACA-CA 11 45948373 45948373 deletion of <=200bp C - downstream_gene_variant PACA-CA 11 45948482 45948482 single base substitution G A downstream_gene_variant PACA-CA 11 45954264 45954264 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 11 45954264 45954264 deletion of <=200bp A - downstream_gene_variant PACA-CA 11 45954264 45954264 deletion of <=200bp A - exon_variant PACA-CA 11 45960943 45960943 single base substitution C G intron_variant PACA-CA 11 45960943 45960943 single base substitution C G upstream_gene_variant PACA-CA 11 45966384 45966384 single base substitution C A intron_variant PACA-CA 11 45966656 45966656 single base substitution T G intron_variant PACA-CA 11 45967045 45967045 single base substitution C T intron_variant PACA-CA 11 45968178 45968178 single base substitution G A intron_variant PACA-CA 11 45968178 45968178 single base substitution G A upstream_gene_variant PACA-CA 11 45968355 45968355 single base substitution T C intron_variant PACA-CA 11 45968355 45968355 single base substitution T C upstream_gene_variant PACA-CA 11 45971782 45971782 single base substitution C G exon_variant PACA-CA 11 45971782 45971782 single base substitution C G synonymous_variant G373G 1119G>C PACA-CA 11 45971782 45971782 single base substitution C G synonymous_variant G374G 1122G>C PACA-CA 11 45971782 45971782 single base substitution C G upstream_gene_variant PACA-CA 11 45978749 45978749 single base substitution C A intron_variant PACA-CA 11 45978749 45978749 single base substitution C A upstream_gene_variant PACA-CA 11 45979172 45979172 single base substitution C T intron_variant PACA-CA 11 45979172 45979172 single base substitution C T upstream_gene_variant PACA-CA 11 45980243 45980243 single base substitution G A intron_variant PACA-CA 11 45982994 45982994 single base substitution G A intron_variant PACA-CA 11 45983684 45983684 insertion of <=200bp - G intron_variant PACA-CA 11 45986613 45986613 single base substitution G A intron_variant PACA-CA 11 45988083 45988083 single base substitution T A downstream_gene_variant PACA-CA 11 45988083 45988083 single base substitution T A intron_variant PACA-CA 11 45988083 45988083 single base substitution T A upstream_gene_variant PACA-CA 11 45988151 45988151 single base substitution T C downstream_gene_variant PACA-CA 11 45988151 45988151 single base substitution T C intron_variant PACA-CA 11 45988151 45988151 single base substitution T C upstream_gene_variant PACA-CA 11 45991523 45991523 single base substitution T C downstream_gene_variant PACA-CA 11 45991523 45991523 single base substitution T C exon_variant PACA-CA 11 45991523 45991523 single base substitution T C intron_variant PACA-CA 11 45991523 45991523 single base substitution T C upstream_gene_variant PACA-CA 11 45991981 45991981 single base substitution G A downstream_gene_variant PACA-CA 11 45991981 45991981 single base substitution G A exon_variant PACA-CA 11 45991981 45991981 single base substitution G A intron_variant PACA-CA 11 45991981 45991981 single base substitution G A upstream_gene_variant PACA-CA 11 45996179 45996179 insertion of <=200bp - C intron_variant PACA-CA 11 45996179 45996179 insertion of <=200bp - C upstream_gene_variant PACA-CA 11 45996433 45996433 single base substitution C A downstream_gene_variant PACA-CA 11 45996433 45996433 single base substitution C A intron_variant PACA-CA 11 45996433 45996433 single base substitution C A upstream_gene_variant PACA-CA 11 45998046 45998046 single base substitution A G downstream_gene_variant PACA-CA 11 45998046 45998046 single base substitution A G intron_variant PACA-CA 11 45998775 45998775 single base substitution T G downstream_gene_variant PACA-CA 11 45998775 45998775 single base substitution T G intron_variant PACA-CA 11 46003137 46003137 single base substitution C G intron_variant PACA-CA 11 46004316 46004316 single base substitution C G intron_variant PACA-CA 11 46005286 46005286 single base substitution C T intron_variant PACA-CA 11 46005420 46005420 single base substitution C G intron_variant PACA-CA 11 46006864 46006864 single base substitution T C intron_variant PACA-CA 11 46008662 46008662 single base substitution T C intron_variant PACA-CA 11 46022071 46022071 single base substitution G A intron_variant PACA-CA 11 46025636 46025636 single base substitution C T intron_variant PACA-CA 11 46025676 46025676 single base substitution C A intron_variant PACA-CA 11 46032269 46032269 deletion of <=200bp A - intron_variant PACA-CA 11 46032535 46032535 single base substitution T A intron_variant PACA-CA 11 46032537 46032537 single base substitution A T intron_variant PACA-CA 11 46033650 46033650 single base substitution T A intron_variant PACA-CA 11 46036540 46036540 single base substitution A T intron_variant PACA-CA 11 46038294 46038294 single base substitution G A intron_variant PACA-CA 11 46044512 46044512 single base substitution G C intron_variant PACA-CA 11 46044597 46044597 single base substitution C T intron_variant PACA-CA 11 46061456 46061456 single base substitution C G intron_variant PACA-CA 11 46062261 46062261 single base substitution T C intron_variant PACA-CA 11 46067898 46067898 insertion of <=200bp - A intron_variant PACA-CA 11 46069783 46069783 deletion of <=200bp T - intron_variant PACA-CA 11 46075589 46075589 single base substitution G A intron_variant PACA-CA 11 46080973 46080973 deletion of <=200bp T - intron_variant PACA-CA 11 46083009 46083009 single base substitution C T intron_variant PACA-CA 11 46084697 46084697 insertion of <=200bp - A intron_variant PACA-CA 11 46085269 46085269 deletion of <=200bp A - intron_variant PACA-CA 11 46086359 46086359 single base substitution T C intron_variant PACA-CA 11 46087602 46087602 single base substitution A G intron_variant PACA-CA 11 46090265 46090265 single base substitution A G intron_variant PACA-CA 11 46090644 46090644 single base substitution C T intron_variant PACA-CA 11 46093461 46093461 single base substitution T C downstream_gene_variant PACA-CA 11 46093461 46093461 single base substitution T C intron_variant PACA-CA 11 46112858 46112858 deletion of <=200bp T - intron_variant PACA-CA 11 46116302 46116302 single base substitution T A intron_variant PACA-CA 11 46116302 46116302 single base substitution T A upstream_gene_variant PACA-CA 11 46117380 46117380 single base substitution G C intron_variant PACA-CA 11 46117380 46117380 single base substitution G C upstream_gene_variant PACA-CA 11 46117869 46117869 single base substitution C A intron_variant PACA-CA 11 46117869 46117869 single base substitution C A upstream_gene_variant PACA-CA 11 46123180 46123180 single base substitution C G intron_variant PACA-CA 11 46125324 46125324 single base substitution G A intron_variant PACA-CA 11 46136110 46136110 single base substitution G A intron_variant PACA-CA 11 46137313 46137313 single base substitution T C downstream_gene_variant PACA-CA 11 46137313 46137313 single base substitution T C intron_variant PACA-CA 11 46139256 46139256 single base substitution T C downstream_gene_variant PACA-CA 11 46139256 46139256 single base substitution T C intron_variant PACA-CA 11 46142629 46142629 single base substitution G A 5_prime_UTR_variant PACA-CA 11 46142629 46142629 single base substitution G A upstream_gene_variant PACA-CA 11 46145564 46145564 single base substitution A C upstream_gene_variant PACA-CA 11 46146482 46146482 single base substitution G T upstream_gene_variant PACA-CA 11 46147709 46147709 single base substitution A C upstream_gene_variant PAEN-AU 11 46006665 46006665 single base substitution C A intron_variant PAEN-AU 11 46029582 46029582 single base substitution T C intron_variant PAEN-AU 11 46065341 46065341 single base substitution T C intron_variant PAEN-AU 11 46072529 46072529 single base substitution G A intron_variant PAEN-AU 11 46092018 46092018 single base substitution A T intron_variant PAEN-IT 11 46002133 46002133 single base substitution C T intron_variant PAEN-IT 11 46086787 46086787 single base substitution G T intron_variant PBCA-DE 11 45950943 45950943 insertion of <=200bp - C 3_prime_UTR_variant PBCA-DE 11 45950943 45950943 insertion of <=200bp - C downstream_gene_variant PBCA-DE 11 45950943 45950943 insertion of <=200bp - C exon_variant PBCA-DE 11 45953198 45953198 single base substitution T C 3_prime_UTR_variant PBCA-DE 11 45953198 45953198 single base substitution T C downstream_gene_variant PBCA-DE 11 45953198 45953198 single base substitution T C exon_variant PBCA-DE 11 45959228 45959228 single base substitution C T downstream_gene_variant PBCA-DE 11 45959228 45959228 single base substitution C T intron_variant PBCA-DE 11 45959228 45959228 single base substitution C T upstream_gene_variant PBCA-DE 11 45963765 45963765 single base substitution G A intron_variant PBCA-DE 11 45963765 45963765 single base substitution G A upstream_gene_variant PBCA-DE 11 45971758 45971758 single base substitution T G missense_variant E381D 1143A>C PBCA-DE 11 45971758 45971758 single base substitution T G missense_variant E382D 1146A>C PBCA-DE 11 45971758 45971758 single base substitution T G splice_region_variant PBCA-DE 11 45971758 45971758 single base substitution T G upstream_gene_variant PBCA-DE 11 45985077 45985077 single base substitution T G intron_variant PBCA-DE 11 45988157 45988157 insertion of <=200bp - T downstream_gene_variant PBCA-DE 11 45988157 45988157 insertion of <=200bp - T intron_variant PBCA-DE 11 45988157 45988157 insertion of <=200bp - T upstream_gene_variant PBCA-DE 11 45994611 45994611 deletion of <=200bp A - intron_variant PBCA-DE 11 45994611 45994611 deletion of <=200bp A - upstream_gene_variant PBCA-DE 11 45994623 45994624 deletion of <=200bp TC - intron_variant PBCA-DE 11 45994623 45994624 deletion of <=200bp TC - upstream_gene_variant PBCA-DE 11 45996918 45996918 single base substitution T C downstream_gene_variant PBCA-DE 11 45996918 45996918 single base substitution T C intron_variant PBCA-DE 11 45996918 45996918 single base substitution T C upstream_gene_variant PBCA-DE 11 46007074 46007074 single base substitution T C intron_variant PBCA-DE 11 46026601 46026601 single base substitution C T intron_variant PBCA-DE 11 46027435 46027435 single base substitution G A intron_variant PBCA-DE 11 46032659 46032659 single base substitution C A intron_variant PBCA-DE 11 46049748 46049748 single base substitution C T intron_variant PBCA-DE 11 46049748 46049748 single base substitution C T upstream_gene_variant PBCA-DE 11 46054057 46054057 insertion of <=200bp - A intron_variant PBCA-DE 11 46059705 46059705 insertion of <=200bp - T intron_variant PBCA-DE 11 46090220 46090220 deletion of <=200bp A - intron_variant PBCA-DE 11 46100696 46100696 single base substitution G A exon_variant PBCA-DE 11 46100696 46100696 single base substitution G A stop_gained Q26* 76C>T PBCA-DE 11 46100696 46100696 single base substitution G A stop_gained Q3* 7C>T PBCA-DE 11 46121672 46121672 single base substitution G A intron_variant PBCA-DE 11 46129401 46129401 insertion of <=200bp - T intron_variant PBCA-DE 11 46140588 46140588 single base substitution C T downstream_gene_variant PBCA-DE 11 46140588 46140588 single base substitution C T intron_variant PBCA-DE 11 46142550 46142552 deletion of <=200bp AGG - 5_prime_UTR_variant PBCA-DE 11 46142550 46142552 deletion of <=200bp AGG - exon_variant PBCA-DE 11 46142550 46142552 deletion of <=200bp AGG - upstream_gene_variant PRAD-CA 11 45953627 45953627 single base substitution C G 3_prime_UTR_variant PRAD-CA 11 45953627 45953627 single base substitution C G downstream_gene_variant PRAD-CA 11 45953627 45953627 single base substitution C G exon_variant PRAD-CA 11 45962287 45962287 single base substitution G A intron_variant PRAD-CA 11 45962287 45962287 single base substitution G A upstream_gene_variant PRAD-CA 11 45996898 45996898 single base substitution T C downstream_gene_variant PRAD-CA 11 45996898 45996898 single base substitution T C intron_variant PRAD-CA 11 45996898 45996898 single base substitution T C upstream_gene_variant PRAD-CA 11 46062545 46062545 single base substitution C A intron_variant PRAD-CA 11 46097701 46097701 single base substitution C G downstream_gene_variant PRAD-CA 11 46097701 46097701 single base substitution C G intron_variant PRAD-CA 11 46103753 46103753 single base substitution C T downstream_gene_variant PRAD-CA 11 46103753 46103753 single base substitution C T intron_variant PRAD-CA 11 46119399 46119399 single base substitution A G intron_variant PRAD-CA 11 46134044 46134044 single base substitution T C intron_variant PRAD-UK 11 45957535 45957535 single base substitution A G downstream_gene_variant PRAD-UK 11 45957535 45957535 single base substitution A G intron_variant PRAD-UK 11 45966874 45966874 single base substitution A G intron_variant PRAD-UK 11 45975244 45975244 single base substitution T G intron_variant PRAD-UK 11 45975244 45975244 single base substitution T G upstream_gene_variant PRAD-UK 11 45979207 45979207 single base substitution T C intron_variant PRAD-UK 11 45979207 45979207 single base substitution T C upstream_gene_variant PRAD-UK 11 46018043 46018043 single base substitution G T intron_variant PRAD-UK 11 46019026 46019036 deletion of <=200bp AAGATGAAGCC - intron_variant PRAD-UK 11 46019317 46019317 single base substitution C T intron_variant PRAD-UK 11 46064117 46064117 single base substitution C T intron_variant PRAD-UK 11 46107915 46107915 single base substitution C A downstream_gene_variant PRAD-UK 11 46107915 46107915 single base substitution C A intron_variant PRAD-UK 11 46137390 46137390 single base substitution A C downstream_gene_variant PRAD-UK 11 46137390 46137390 single base substitution A C intron_variant PRAD-UK 11 46139867 46139867 single base substitution G A downstream_gene_variant PRAD-UK 11 46139867 46139867 single base substitution G A intron_variant PRAD-UK 11 46144503 46144503 single base substitution A C upstream_gene_variant READ-US 11 45975166 45975166 single base substitution G T exon_variant READ-US 11 45975166 45975166 single base substitution G T missense_variant S335Y 1004C>A READ-US 11 45975166 45975166 single base substitution G T missense_variant S336Y 1007C>A READ-US 11 46001401 46001401 single base substitution T C 3_prime_UTR_variant READ-US 11 46001401 46001401 single base substitution T C downstream_gene_variant READ-US 11 46001401 46001401 single base substitution T C exon_variant READ-US 11 46001401 46001401 single base substitution T C synonymous_variant Q90Q 270A>G READ-US 11 46001401 46001401 single base substitution T C synonymous_variant Q97Q 291A>G RECA-EU 11 45976644 45976644 single base substitution T A intron_variant RECA-EU 11 45976644 45976644 single base substitution T A upstream_gene_variant RECA-EU 11 45988905 45988905 single base substitution T A downstream_gene_variant RECA-EU 11 45988905 45988905 single base substitution T A intron_variant RECA-EU 11 45988905 45988905 single base substitution T A upstream_gene_variant RECA-EU 11 45990218 45990218 single base substitution G T downstream_gene_variant RECA-EU 11 45990218 45990218 single base substitution G T intron_variant RECA-EU 11 45990218 45990218 single base substitution G T upstream_gene_variant RECA-EU 11 45993445 45993445 single base substitution T C intron_variant RECA-EU 11 45993445 45993445 single base substitution T C upstream_gene_variant RECA-EU 11 46002139 46002139 single base substitution C A intron_variant RECA-EU 11 46020314 46020314 single base substitution C G intron_variant RECA-EU 11 46039123 46039123 single base substitution C A intron_variant RECA-EU 11 46042450 46042450 single base substitution G A intron_variant RECA-EU 11 46055179 46055179 single base substitution T C intron_variant RECA-EU 11 46058294 46058294 single base substitution T C intron_variant RECA-EU 11 46058328 46058328 single base substitution T C intron_variant RECA-EU 11 46059753 46059753 single base substitution C T intron_variant RECA-EU 11 46061535 46061535 single base substitution T C intron_variant RECA-EU 11 46067274 46067274 single base substitution A C intron_variant RECA-EU 11 46080767 46080767 single base substitution G T intron_variant RECA-EU 11 46084474 46084474 single base substitution A T intron_variant RECA-EU 11 46102919 46102919 single base substitution A G downstream_gene_variant RECA-EU 11 46102919 46102919 single base substitution A G intron_variant RECA-EU 11 46131131 46131131 single base substitution C A intron_variant SKCA-BR 11 45946473 45946473 single base substitution T G downstream_gene_variant SKCA-BR 11 45946476 45946476 single base substitution T G downstream_gene_variant SKCA-BR 11 45946506 45946506 single base substitution T G downstream_gene_variant SKCA-BR 11 45947340 45947340 single base substitution G A downstream_gene_variant SKCA-BR 11 45947633 45947633 single base substitution G A downstream_gene_variant SKCA-BR 11 45947938 45947938 single base substitution G A downstream_gene_variant SKCA-BR 11 45948537 45948537 single base substitution G A downstream_gene_variant SKCA-BR 11 45948682 45948682 single base substitution G A downstream_gene_variant SKCA-BR 11 45950586 45950586 single base substitution G A downstream_gene_variant SKCA-BR 11 45950780 45950780 single base substitution A C downstream_gene_variant SKCA-BR 11 45951504 45951504 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 45951504 45951504 single base substitution G A downstream_gene_variant SKCA-BR 11 45951504 45951504 single base substitution G A exon_variant SKCA-BR 11 45951917 45951917 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 45951917 45951917 single base substitution G A downstream_gene_variant SKCA-BR 11 45951917 45951917 single base substitution G A exon_variant SKCA-BR 11 45951918 45951918 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 45951918 45951918 single base substitution G A downstream_gene_variant SKCA-BR 11 45951918 45951918 single base substitution G A exon_variant SKCA-BR 11 45954524 45954524 single base substitution A G 3_prime_UTR_variant SKCA-BR 11 45954524 45954524 single base substitution A G downstream_gene_variant SKCA-BR 11 45954524 45954524 single base substitution A G exon_variant SKCA-BR 11 45955767 45955767 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 45955767 45955767 single base substitution C T downstream_gene_variant SKCA-BR 11 45955767 45955767 single base substitution C T exon_variant SKCA-BR 11 45955767 45955767 single base substitution C T missense_variant E553K 1657G>A SKCA-BR 11 45955767 45955767 single base substitution C T missense_variant E599K 1795G>A SKCA-BR 11 45955767 45955767 single base substitution C T missense_variant E600K 1798G>A SKCA-BR 11 45955767 45955767 single base substitution C T missense_variant E74K 220G>A SKCA-BR 11 45955767 45955767 single base substitution C T missense_variant G55E 164G>A SKCA-BR 11 45955962 45955962 single base substitution G A downstream_gene_variant SKCA-BR 11 45955962 45955962 single base substitution G A exon_variant SKCA-BR 11 45955962 45955962 single base substitution G A intron_variant SKCA-BR 11 45960087 45960087 single base substitution G A intron_variant SKCA-BR 11 45960087 45960087 single base substitution G A upstream_gene_variant SKCA-BR 11 45960510 45960510 single base substitution G A intron_variant SKCA-BR 11 45960510 45960510 single base substitution G A upstream_gene_variant SKCA-BR 11 45961431 45961431 single base substitution G A intron_variant SKCA-BR 11 45961431 45961431 single base substitution G A upstream_gene_variant SKCA-BR 11 45961654 45961654 single base substitution C T intron_variant SKCA-BR 11 45961654 45961654 single base substitution C T upstream_gene_variant SKCA-BR 11 45970856 45970856 single base substitution G A intron_variant SKCA-BR 11 45970856 45970856 single base substitution G A upstream_gene_variant SKCA-BR 11 45972838 45972838 single base substitution A C intron_variant SKCA-BR 11 45975951 45975951 single base substitution C T intron_variant SKCA-BR 11 45975951 45975951 single base substitution C T upstream_gene_variant SKCA-BR 11 45981052 45981052 single base substitution G A intron_variant SKCA-BR 11 45988414 45988414 single base substitution C T downstream_gene_variant SKCA-BR 11 45988414 45988414 single base substitution C T intron_variant SKCA-BR 11 45988414 45988414 single base substitution C T upstream_gene_variant SKCA-BR 11 45991453 45991453 single base substitution C T downstream_gene_variant SKCA-BR 11 45991453 45991453 single base substitution C T exon_variant SKCA-BR 11 45991453 45991453 single base substitution C T splice_acceptor_variant SKCA-BR 11 45991453 45991453 single base substitution C T splice_region_variant SKCA-BR 11 45991453 45991453 single base substitution C T upstream_gene_variant SKCA-BR 11 45993441 45993441 insertion of <=200bp - CTTTCTTTTTTTTTTT intron_variant SKCA-BR 11 45993441 45993441 insertion of <=200bp - CTTTCTTTTTTTTTTT upstream_gene_variant SKCA-BR 11 45993444 45993444 insertion of <=200bp - TC intron_variant SKCA-BR 11 45993444 45993444 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 11 45993445 45993445 single base substitution T C intron_variant SKCA-BR 11 45993445 45993445 single base substitution T C upstream_gene_variant SKCA-BR 11 45996873 45996873 insertion of <=200bp - CAAAAT downstream_gene_variant SKCA-BR 11 45996873 45996873 insertion of <=200bp - CAAAAT intron_variant SKCA-BR 11 45996873 45996873 insertion of <=200bp - CAAAAT upstream_gene_variant SKCA-BR 11 45996928 45996928 single base substitution T C downstream_gene_variant SKCA-BR 11 45996928 45996928 single base substitution T C intron_variant SKCA-BR 11 45996928 45996928 single base substitution T C upstream_gene_variant SKCA-BR 11 45999163 45999163 single base substitution T C downstream_gene_variant SKCA-BR 11 45999163 45999163 single base substitution T C intron_variant SKCA-BR 11 46002013 46002013 single base substitution G A intron_variant SKCA-BR 11 46005757 46005757 single base substitution G A intron_variant SKCA-BR 11 46007747 46007747 single base substitution C A intron_variant SKCA-BR 11 46007749 46007749 single base substitution C T intron_variant SKCA-BR 11 46011041 46011041 insertion of <=200bp - TAA intron_variant SKCA-BR 11 46017675 46017675 single base substitution T C intron_variant SKCA-BR 11 46017793 46017793 single base substitution A G intron_variant SKCA-BR 11 46020911 46020911 single base substitution G A intron_variant SKCA-BR 11 46024783 46024783 single base substitution C T intron_variant SKCA-BR 11 46024834 46024836 deletion of <=200bp CAA - intron_variant SKCA-BR 11 46025061 46025061 single base substitution G A intron_variant SKCA-BR 11 46028601 46028601 single base substitution G A intron_variant SKCA-BR 11 46035043 46035043 single base substitution C T intron_variant SKCA-BR 11 46037446 46037446 insertion of <=200bp - CATCT intron_variant SKCA-BR 11 46045420 46045420 single base substitution T A intron_variant SKCA-BR 11 46050122 46050123 deletion of <=200bp CT - intron_variant SKCA-BR 11 46050122 46050123 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 11 46050731 46050731 insertion of <=200bp - AT intron_variant SKCA-BR 11 46050731 46050731 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 11 46053316 46053316 single base substitution A T intron_variant SKCA-BR 11 46053316 46053316 single base substitution A T upstream_gene_variant SKCA-BR 11 46056092 46056092 single base substitution A G intron_variant SKCA-BR 11 46062441 46062445 deletion of <=200bp GACAC - intron_variant SKCA-BR 11 46068138 46068138 single base substitution G A intron_variant SKCA-BR 11 46071730 46071730 single base substitution C A intron_variant SKCA-BR 11 46073444 46073444 single base substitution G A intron_variant SKCA-BR 11 46074089 46074089 single base substitution C A intron_variant SKCA-BR 11 46077962 46077962 single base substitution G A intron_variant SKCA-BR 11 46078327 46078327 single base substitution A G intron_variant SKCA-BR 11 46080313 46080313 single base substitution G A intron_variant SKCA-BR 11 46088093 46088093 single base substitution A G intron_variant SKCA-BR 11 46089141 46089141 single base substitution A C intron_variant SKCA-BR 11 46092618 46092618 single base substitution T C intron_variant SKCA-BR 11 46096009 46096009 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 11 46096009 46096009 insertion of <=200bp - CG intron_variant SKCA-BR 11 46098271 46098271 single base substitution G A downstream_gene_variant SKCA-BR 11 46098271 46098271 single base substitution G A intron_variant SKCA-BR 11 46100456 46100456 single base substitution A T downstream_gene_variant SKCA-BR 11 46100456 46100456 single base substitution A T intron_variant SKCA-BR 11 46100607 46100607 single base substitution A G downstream_gene_variant SKCA-BR 11 46100607 46100607 single base substitution A G intron_variant SKCA-BR 11 46104639 46104639 single base substitution A T downstream_gene_variant SKCA-BR 11 46104639 46104639 single base substitution A T intron_variant SKCA-BR 11 46118196 46118196 single base substitution C T intron_variant SKCA-BR 11 46118196 46118196 single base substitution C T upstream_gene_variant SKCA-BR 11 46121446 46121446 single base substitution G C intron_variant SKCA-BR 11 46129448 46129448 single base substitution T C intron_variant SKCA-BR 11 46131637 46131637 single base substitution G A intron_variant SKCA-BR 11 46132339 46132340 deletion of <=200bp AT - intron_variant SKCA-BR 11 46141295 46141295 insertion of <=200bp - GA 5_prime_UTR_variant SKCA-BR 11 46141295 46141295 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 11 46141295 46141295 insertion of <=200bp - GA exon_variant SKCA-BR 11 46141295 46141295 insertion of <=200bp - GA intron_variant SKCA-BR 11 46141458 46141458 single base substitution A G downstream_gene_variant SKCA-BR 11 46141458 46141458 single base substitution A G intron_variant SKCA-BR 11 46141458 46141458 single base substitution A G upstream_gene_variant SKCA-BR 11 46141499 46141499 single base substitution G C downstream_gene_variant SKCA-BR 11 46141499 46141499 single base substitution G C intron_variant SKCA-BR 11 46141499 46141499 single base substitution G C upstream_gene_variant SKCA-BR 11 46142786 46142786 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 11 46142786 46142786 single base substitution A G upstream_gene_variant SKCA-BR 11 46142802 46142802 single base substitution A G 5_prime_UTR_variant SKCA-BR 11 46142802 46142802 single base substitution A G upstream_gene_variant SKCA-BR 11 46142809 46142809 single base substitution T G 5_prime_UTR_variant SKCA-BR 11 46142809 46142809 single base substitution T G upstream_gene_variant SKCA-BR 11 46144008 46144008 single base substitution A G upstream_gene_variant SKCA-BR 11 46144291 46144291 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 11 46146641 46146641 single base substitution G C upstream_gene_variant SKCA-BR 11 46147827 46147828 deletion of <=200bp AT - upstream_gene_variant SKCM-US 11 45947834 45947834 single base substitution G A downstream_gene_variant SKCM-US 11 45949026 45949026 single base substitution G A downstream_gene_variant SKCM-US 11 45949039 45949039 single base substitution C T downstream_gene_variant SKCM-US 11 45949528 45949528 single base substitution G A downstream_gene_variant SKCM-US 11 45949594 45949594 single base substitution G T downstream_gene_variant SKCM-US 11 45949732 45949732 single base substitution C T downstream_gene_variant SKCM-US 11 45949780 45949780 single base substitution G A downstream_gene_variant SKCM-US 11 45949844 45949844 single base substitution G A downstream_gene_variant SKCM-US 11 45955566 45955566 single base substitution A T 3_prime_UTR_variant SKCM-US 11 45955566 45955566 single base substitution A T downstream_gene_variant SKCM-US 11 45955566 45955566 single base substitution A T exon_variant SKCM-US 11 45955566 45955566 single base substitution A T missense_variant S141T 421T>A SKCM-US 11 45955566 45955566 single base substitution A T missense_variant S620T 1858T>A SKCM-US 11 45955566 45955566 single base substitution A T missense_variant S666T 1996T>A SKCM-US 11 45955566 45955566 single base substitution A T missense_variant S667T 1999T>A SKCM-US 11 45959846 45959846 single base substitution A C exon_variant SKCM-US 11 45959846 45959846 single base substitution A C intron_variant SKCM-US 11 45959846 45959846 single base substitution A C missense_variant D443E 1329T>G SKCM-US 11 45959846 45959846 single base substitution A C missense_variant D489E 1467T>G SKCM-US 11 45959846 45959846 single base substitution A C missense_variant D490E 1470T>G SKCM-US 11 45959846 45959846 single base substitution A C upstream_gene_variant SKCM-US 11 45967506 45967506 single base substitution G A exon_variant SKCM-US 11 45967506 45967506 single base substitution G A intron_variant SKCM-US 11 45967506 45967506 single base substitution G A missense_variant P445L 1334C>T SKCM-US 11 45967506 45967506 single base substitution G A missense_variant P446L 1337C>T SKCM-US 11 45967506 45967506 single base substitution G A upstream_gene_variant SKCM-US 11 45987070 45987070 single base substitution G A exon_variant SKCM-US 11 45987070 45987070 single base substitution G A synonymous_variant P263P 789C>T SKCM-US 11 45987070 45987070 single base substitution G A synonymous_variant P264P 792C>T SKCM-US 11 45987070 45987070 single base substitution G A upstream_gene_variant SKCM-US 11 45987079 45987079 single base substitution G A exon_variant SKCM-US 11 45987079 45987079 single base substitution G A synonymous_variant I260I 780C>T SKCM-US 11 45987079 45987079 single base substitution G A synonymous_variant I261I 783C>T SKCM-US 11 45987079 45987079 single base substitution G A upstream_gene_variant SKCM-US 11 45991416 45991416 single base substitution G T downstream_gene_variant SKCM-US 11 45991416 45991416 single base substitution G T exon_variant SKCM-US 11 45991416 45991416 single base substitution G T missense_variant Q217K 649C>A SKCM-US 11 45991416 45991416 single base substitution G T missense_variant Q218K 652C>A SKCM-US 11 45991416 45991416 single base substitution G T upstream_gene_variant SKCM-US 11 46001479 46001479 single base substitution T G 3_prime_UTR_variant SKCM-US 11 46001479 46001479 single base substitution T G exon_variant SKCM-US 11 46001479 46001479 single base substitution T G synonymous_variant V41V 123A>C SKCM-US 11 46001479 46001479 single base substitution T G synonymous_variant V64V 192A>C SKCM-US 11 46001479 46001479 single base substitution T G synonymous_variant V71V 213A>C SKCM-US 11 46001496 46001496 single base substitution G A 3_prime_UTR_variant SKCM-US 11 46001496 46001496 single base substitution G A exon_variant SKCM-US 11 46001496 46001496 single base substitution G A missense_variant R36W 106C>T SKCM-US 11 46001496 46001496 single base substitution G A missense_variant R59W 175C>T SKCM-US 11 46001496 46001496 single base substitution G A missense_variant R66W 196C>T STAD-US 11 45947886 45947886 single base substitution G A downstream_gene_variant STAD-US 11 45947887 45947887 single base substitution T C downstream_gene_variant STAD-US 11 45948298 45948298 single base substitution C A downstream_gene_variant STAD-US 11 45948971 45948971 single base substitution C A downstream_gene_variant STAD-US 11 45949039 45949039 single base substitution C T downstream_gene_variant STAD-US 11 45949117 45949117 single base substitution C A downstream_gene_variant STAD-US 11 45949132 45949132 single base substitution A G downstream_gene_variant STAD-US 11 45949133 45949133 single base substitution C T downstream_gene_variant STAD-US 11 45949753 45949753 single base substitution G A downstream_gene_variant STAD-US 11 45949777 45949777 single base substitution C T downstream_gene_variant STAD-US 11 45949811 45949811 single base substitution C T downstream_gene_variant STAD-US 11 45949840 45949840 single base substitution C T downstream_gene_variant STAD-US 11 45955607 45955607 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 11 45955607 45955607 deletion of <=200bp G - downstream_gene_variant STAD-US 11 45955607 45955607 deletion of <=200bp G - exon_variant STAD-US 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P127 STAD-US 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P606 STAD-US 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P652 STAD-US 11 45955607 45955607 deletion of <=200bp G - frameshift_variant P653 STAD-US 11 45955682 45955682 single base substitution C T 3_prime_UTR_variant STAD-US 11 45955682 45955682 single base substitution C T downstream_gene_variant STAD-US 11 45955682 45955682 single base substitution C T exon_variant STAD-US 11 45955682 45955682 single base substitution C T missense_variant G102D 305G>A STAD-US 11 45955682 45955682 single base substitution C T missense_variant G581D 1742G>A STAD-US 11 45955682 45955682 single base substitution C T missense_variant G627D 1880G>A STAD-US 11 45955682 45955682 single base substitution C T missense_variant G628D 1883G>A STAD-US 11 45955682 45955682 single base substitution C T synonymous_variant R83R 249G>A STAD-US 11 45955742 45955742 single base substitution C T 3_prime_UTR_variant STAD-US 11 45955742 45955742 single base substitution C T downstream_gene_variant STAD-US 11 45955742 45955742 single base substitution C T exon_variant STAD-US 11 45955742 45955742 single base substitution C T missense_variant R561Q 1682G>A STAD-US 11 45955742 45955742 single base substitution C T missense_variant R607Q 1820G>A STAD-US 11 45955742 45955742 single base substitution C T missense_variant R608Q 1823G>A STAD-US 11 45955742 45955742 single base substitution C T missense_variant R82Q 245G>A STAD-US 11 45955742 45955742 single base substitution C T synonymous_variant P63P 189G>A STAD-US 11 45959804 45959804 single base substitution G A exon_variant STAD-US 11 45959804 45959804 single base substitution G A intron_variant STAD-US 11 45959804 45959804 single base substitution G A synonymous_variant C457C 1371C>T STAD-US 11 45959804 45959804 single base substitution G A synonymous_variant C503C 1509C>T STAD-US 11 45959804 45959804 single base substitution G A synonymous_variant C504C 1512C>T STAD-US 11 45959804 45959804 single base substitution G A upstream_gene_variant STAD-US 11 45967444 45967444 single base substitution T C exon_variant STAD-US 11 45967444 45967444 single base substitution T C intron_variant STAD-US 11 45967444 45967444 single base substitution T C missense_variant T466A 1396A>G STAD-US 11 45967444 45967444 single base substitution T C missense_variant T467A 1399A>G STAD-US 11 45967444 45967444 single base substitution T C upstream_gene_variant STAD-US 11 45967495 45967495 insertion of <=200bp - G exon_variant STAD-US 11 45967495 45967495 insertion of <=200bp - G frameshift_variant Q449P? STAD-US 11 45967495 45967495 insertion of <=200bp - G frameshift_variant Q450P? STAD-US 11 45967495 45967495 insertion of <=200bp - G intron_variant STAD-US 11 45967495 45967495 insertion of <=200bp - G upstream_gene_variant STAD-US 11 45970446 45970446 single base substitution G A exon_variant STAD-US 11 45970446 45970446 single base substitution G A missense_variant R426W 1276C>T STAD-US 11 45970446 45970446 single base substitution G A missense_variant R427W 1279C>T STAD-US 11 45970446 45970446 single base substitution G A upstream_gene_variant STAD-US 11 45991420 45991420 single base substitution T C downstream_gene_variant STAD-US 11 45991420 45991420 single base substitution T C exon_variant STAD-US 11 45991420 45991420 single base substitution T C synonymous_variant V215V 645A>G STAD-US 11 45991420 45991420 single base substitution T C synonymous_variant V216V 648A>G STAD-US 11 45991420 45991420 single base substitution T C upstream_gene_variant STAD-US 11 45992799 45992799 single base substitution G A 3_prime_UTR_variant STAD-US 11 45992799 45992799 single base substitution G A downstream_gene_variant STAD-US 11 45992799 45992799 single base substitution G A exon_variant STAD-US 11 45992799 45992799 single base substitution G A synonymous_variant T160T 480C>T STAD-US 11 45992812 45992812 single base substitution A T 3_prime_UTR_variant STAD-US 11 45992812 45992812 single base substitution A T downstream_gene_variant STAD-US 11 45992812 45992812 single base substitution A T exon_variant STAD-US 11 45992812 45992812 single base substitution A T missense_variant I156N 467T>A STAD-US 11 46001356 46001356 single base substitution G A 3_prime_UTR_variant STAD-US 11 46001356 46001356 single base substitution G A downstream_gene_variant STAD-US 11 46001356 46001356 single base substitution G A exon_variant STAD-US 11 46001356 46001356 single base substitution G A synonymous_variant H105H 315C>T STAD-US 11 46001356 46001356 single base substitution G A synonymous_variant H112H 336C>T THCA-US 11 45958119 45958119 single base substitution A G downstream_gene_variant THCA-US 11 45958119 45958119 single base substitution A G exon_variant THCA-US 11 45958119 45958119 single base substitution A G missense_variant M11T 32T>C THCA-US 11 45958119 45958119 single base substitution A G missense_variant M490T 1469T>C THCA-US 11 45958119 45958119 single base substitution A G missense_variant M536T 1607T>C THCA-US 11 45958119 45958119 single base substitution A G missense_variant M537T 1610T>C THCA-US 11 45958119 45958119 single base substitution A G splice_region_variant THCA-US 11 45958119 45958119 single base substitution A G upstream_gene_variant THCA-US 11 45959840 45959840 single base substitution G A exon_variant THCA-US 11 45959840 45959840 single base substitution G A intron_variant THCA-US 11 45959840 45959840 single base substitution G A synonymous_variant C445C 1335C>T THCA-US 11 45959840 45959840 single base substitution G A synonymous_variant C491C 1473C>T THCA-US 11 45959840 45959840 single base substitution G A synonymous_variant C492C 1476C>T THCA-US 11 45959840 45959840 single base substitution G A upstream_gene_variant UCEC-US 11 45946064 45946064 single base substitution T C downstream_gene_variant UCEC-US 11 45946196 45946196 single base substitution C T downstream_gene_variant UCEC-US 11 45946345 45946345 single base substitution C T downstream_gene_variant UCEC-US 11 45947785 45947785 single base substitution G A downstream_gene_variant UCEC-US 11 45947885 45947885 single base substitution C T downstream_gene_variant UCEC-US 11 45948049 45948049 single base substitution C A downstream_gene_variant UCEC-US 11 45948083 45948083 single base substitution G A downstream_gene_variant UCEC-US 11 45948422 45948422 single base substitution G A downstream_gene_variant UCEC-US 11 45949753 45949753 single base substitution G A downstream_gene_variant UCEC-US 11 45955585 45955585 single base substitution C T 3_prime_UTR_variant UCEC-US 11 45955585 45955585 single base substitution C T downstream_gene_variant UCEC-US 11 45955585 45955585 single base substitution C T exon_variant UCEC-US 11 45955585 45955585 single base substitution C T synonymous_variant T134T 402G>A UCEC-US 11 45955585 45955585 single base substitution C T synonymous_variant T613T 1839G>A UCEC-US 11 45955585 45955585 single base substitution C T synonymous_variant T659T 1977G>A UCEC-US 11 45955585 45955585 single base substitution C T synonymous_variant T660T 1980G>A UCEC-US 11 45959706 45959706 single base substitution A G downstream_gene_variant UCEC-US 11 45959706 45959706 single base substitution A G intron_variant UCEC-US 11 45959706 45959706 single base substitution A G splice_donor_variant UCEC-US 11 45959706 45959706 single base substitution A G upstream_gene_variant UCEC-US 11 45967528 45967528 single base substitution G A exon_variant UCEC-US 11 45967528 45967528 single base substitution G A intron_variant UCEC-US 11 45967528 45967528 single base substitution G A synonymous_variant L438L 1312C>T UCEC-US 11 45967528 45967528 single base substitution G A synonymous_variant L439L 1315C>T UCEC-US 11 45967528 45967528 single base substitution G A upstream_gene_variant UCEC-US 11 45971793 45971793 single base substitution C G exon_variant UCEC-US 11 45971793 45971793 single base substitution C G missense_variant V370L 1108G>C UCEC-US 11 45971793 45971793 single base substitution C G missense_variant V371L 1111G>C UCEC-US 11 45971793 45971793 single base substitution C G upstream_gene_variant UCEC-US 11 45986914 45986914 single base substitution G A exon_variant UCEC-US 11 45986914 45986914 single base substitution G A synonymous_variant L315L 945C>T UCEC-US 11 45986914 45986914 single base substitution G A synonymous_variant L316L 948C>T UCEC-US 11 45987009 45987009 single base substitution C T exon_variant UCEC-US 11 45987009 45987009 single base substitution C T missense_variant V284I 850G>A UCEC-US 11 45987009 45987009 single base substitution C T missense_variant V285I 853G>A UCEC-US 11 45987025 45987025 single base substitution C A exon_variant UCEC-US 11 45987025 45987025 single base substitution C A missense_variant Q278H 834G>T UCEC-US 11 45987025 45987025 single base substitution C A missense_variant Q279H 837G>T UCEC-US 11 45987025 45987025 single base substitution C A upstream_gene_variant UCEC-US 11 45987074 45987074 single base substitution C A exon_variant UCEC-US 11 45987074 45987074 single base substitution C A missense_variant R262M 785G>T UCEC-US 11 45987074 45987074 single base substitution C A missense_variant R263M 788G>T UCEC-US 11 45987074 45987074 single base substitution C A upstream_gene_variant UCEC-US 11 45991391 45991391 single base substitution G A downstream_gene_variant UCEC-US 11 45991391 45991391 single base substitution G A exon_variant UCEC-US 11 45991391 45991391 single base substitution G A missense_variant T225I 674C>T UCEC-US 11 45991391 45991391 single base substitution G A missense_variant T226I 677C>T UCEC-US 11 45991391 45991391 single base substitution G A upstream_gene_variant UCEC-US 11 46098328 46098328 single base substitution T G downstream_gene_variant UCEC-US 11 46098328 46098328 single base substitution T G exon_variant UCEC-US 11 46098328 46098328 single base substitution T G missense_variant I21L 61A>C UCEC-US 11 46098328 46098328 single base substitution T G missense_variant I44L 130A>C UCEC-US 11 46098328 46098328 single base substitution T G missense_variant I51L 151A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNU-175 COSM1353899 c.1955delC p.P652fs*>29 Deletion - Frameshift 11:45934056-45934056 - TCGA-DD-A11A-01 COSM4940374 c.1002A>G p.K334K Substitution - coding silent 11:45953617-45953617 - 587342 COSM1220372 c.1979C>T p.P660L Substitution - Missense 11:45934032-45934032 - T3301 COSM4713999 c.683G>A p.R228H Substitution - Missense 11:45969834-45969834 - Br27P COSM40845 c.400C>T p.L134L Substitution - coding silent 11:45971328-45971328 - TCGA-CG-5723-01 COSM4032940 c.1396A>G p.T466A Substitution - Missense 11:45945893-45945893 - UM-SCC-47 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-C5-A7CH-01 COSM4837807 c.501T>C p.A167A Substitution - coding silent 11:45971227-45971227 - TCGA-LP-A5U2-01 COSM4833926 c.1874C>T p.A625V Substitution - Missense 11:45933999-45933999 - TCGA-DS-A0VL-01 COSM1134429 c.1033G>A p.E345K Substitution - Missense 11:45953586-45953586 - UM-SCC-17B COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - TCGA-BS-A0UF-01 COSM927113 c.948C>T p.L316L Substitution - coding silent 11:45965363-45965363 - TCGA-D1-A174-01 COSM927108 c.1629G>A p.Q543Q Substitution - coding silent 11:45935654-45935654 - TCGA-13-2071-01 COSM1321679 c.849C>G p.H283Q Substitution - Missense 11:45965462-45965462 - B85-0-Tumor COSM1746240 c.79G>C p.D27H Substitution - Missense 11:46079142-46079142 - TCGA-EE-A3JA-06 COSM3447489 c.780C>T p.I260I Substitution - coding silent 11:45965528-45965528 - UD-SCC-2 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - YUKAT COSM5372496 c.1066C>T p.P356S Substitution - Missense 11:45953556-45953556 - WSU-HN30 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - TCGA-B5-A0K2-01 COSM927114 c.853G>A p.V285I Substitution - Missense 11:45965458-45965458 - CHC2113T COSM4788393 c.1990C>A p.P664T Substitution - Missense 11:45934021-45934021 - BHY COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - YUKAT COSM5372495 c.1063C>T p.P355S Substitution - Missense 11:45953556-45953556 - HCC127T COSM5822919 c.701A>T p.Q234L Substitution - Missense 11:45969816-45969816 - TCGA-AP-A059-01 COSM1585764 c.130A>C p.I44L Substitution - Missense 11:46076777-46076777 - Pat_46_A COSM5838564 c.848_849CC>TT p.P283L Substitution - Missense 11:45965459-45965460 - TCGA-BP-4158-01 COSM3359192 c.1923G>T p.G641G Substitution - coding silent 11:45934088-45934088 - B85-0 COSM1746240 c.79G>C p.D27H Substitution - Missense 11:46079142-46079142 - SCC-15 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - CHC884T COSM4950810 c.702G>A p.Q234Q Substitution - coding silent 11:45969815-45969815 - HSJD_DIPG003 COSM4746235 c.1682C>A p.A561E Substitution - Missense 11:45935739-45935739 - WSU-HN12 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - BD124T COSM5492784 c.357A>T p.S119S Substitution - coding silent 11:45979763-45979763 - TCGA-BR-4184-01 COSM1979909 c.1509C>T p.C503C Substitution - coding silent 11:45938253-45938253 - HT115 COSM1979897 c.1867C>T p.R623C Substitution - Missense 11:45934144-45934144 - ESO-175 COSM1262056 c.803A>C p.K268T Substitution - Missense 11:45965505-45965505 - BHY COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-BR-8081-01 COSM4032948 c.315C>T p.H105H Substitution - coding silent 11:45979805-45979805 - UD-SCC-2 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-AP-A054-01 COSM1585770 c.1605+2T>C p.? Unknown 11:45938155-45938155 - BD124T COSM5492785 c.357A>T p.S119S Substitution - coding silent 11:45979763-45979763 - TCGA-BR-8591-01 COSM4032943 c.645A>G p.V215V Substitution - coding silent 11:45969869-45969869 - PD22355a COSM5793068 c.1449+1G>A p.? Unknown 11:45945839-45945839 - 587256 COSM1220374 c.760C>T p.L254F Substitution - Missense 11:45965548-45965548 - 93VU147T COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-D1-A17L-01 COSM927111 c.1222C>A p.P408T Substitution - Missense 11:45949407-45949407 - TCGA-HU-A4GQ-01 COSM4032938 c.1820G>A p.R607Q Substitution - Missense 11:45934191-45934191 - UM-SCC-2 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-BR-4184-01 COSM1979910 c.1371C>T p.C457C Substitution - coding silent 11:45938253-45938253 - TCGA-A2-A0T5-01 COSM3809261 c.1407A>C p.A469A Substitution - coding silent 11:45945882-45945882 - WM3211 COSM3727707 c.2029G>T p.E677* Substitution - Nonsense 11:45933982-45933982 - CAL33 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - ESO-175 COSM1262057 c.806A>C p.K269T Substitution - Missense 11:45965505-45965505 - TCGA-39-5016-01 COSM688081 c.279G>T p.Q93H Substitution - Missense 11:45979841-45979841 - PDA_075 COSM5002174 c.1544-3delT p.? Unknown 11:45935742-45935742 - NB-1263 COSM1287112 c.1168C>T p.R390* Substitution - Nonsense 11:45949458-45949458 - TCGA-D5-6930-01 COSM1353907 c.599delA p.N200fs*68 Deletion - Frameshift 11:45971129-45971129 - PTC-70C COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - HSJD_DIPG003 COSM4746236 c.1544C>A p.A515E Substitution - Missense 11:45935739-45935739 - PT27 COSM5905874 c.659C>T p.P220L Substitution - Missense 11:45969855-45969855 - 12 COSM5732672 c.707G>A p.R236Q Substitution - Missense 11:45965604-45965604 - T3091 COSM4713994 c.1600C>T p.R534* Substitution - Nonsense 11:45935683-45935683 - TCGA-AA-3492-01 COSM1353899 c.1955delC p.P652fs*>29 Deletion - Frameshift 11:45934056-45934056 - HT115 COSM125338 c.1729C>T p.R577C Substitution - Missense 11:45934144-45934144 - PTC-14C COSM4145725 c.1696A>G p.K566E Substitution - Missense 11:45935725-45935725 - 93VU147T COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - CHEWS014 COSM4574375 c.370A>G p.T124A Substitution - Missense 11:45971358-45971358 - TCGA-AG-3892-01 COSM257720 c.1536C>T p.Y512Y Substitution - coding silent 11:45936501-45936501 - 8044436 COSM3383483 c.790G>A p.V264I Substitution - Missense 11:45965518-45965518 - TCGA-B5-A11E-01 COSM1585766 c.785G>T p.R262M Substitution - Missense 11:45965523-45965523 - WSU-HN30 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - ORL-48 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - WSU-HN13 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - TCGA-BS-A0UF-01 COSM1585768 c.945C>T p.L315L Substitution - coding silent 11:45965363-45965363 - T2269 COSM4713997 c.1301A>G p.Y434C Substitution - Missense 11:45945988-45945988 - tumor_4163639 COSM1160988 c.1479G>A p.K493K Substitution - coding silent 11:45936558-45936558 - UM-SCC-4 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - ESCC_91 COSM5636804 c.1417C>G p.L473V Substitution - Missense 11:45938207-45938207 - CSCC-11-T COSM4564442 c.1192_1193CC>TT p.P398L Substitution - Missense 11:45949433-45949434 - S02234 COSM5675951 c.1092+2T>A p.? Unknown 11:45953525-45953525 - pfg277T COSM4754256 c.464C>T p.T155I Substitution - Missense 11:45971264-45971264 - C008 COSM5523456 c.769C>T p.P257S Substitution - Missense 11:45965539-45965539 - tumor_4163639 COSM1160986 c.1487C>A p.A496E Substitution - Missense 11:45936550-45936550 - PTC-10C COSM4145730 c.673C>G p.L225V Substitution - Missense 11:45969844-45969844 - WSU-HN12 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-D5-6930-01 COSM1353906 c.599delA p.N200fs*67 Deletion - Frameshift 11:45971129-45971129 - TCGA-85-6560-01 COSM688082 c.1208G>A p.G403E Substitution - Missense 11:45949421-45949421 - LC_S6 COSM1190838 c.78delG p.D27fs*7 Deletion - Frameshift 11:46079143-46079143 - TCGA-CG-5721-01 COSM189458 c.480C>T p.T160T Substitution - coding silent 11:45971248-45971248 - SCC-25 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - CHC884T COSM4950809 c.699G>A p.Q233Q Substitution - coding silent 11:45969815-45969815 - NB-1263 COSM1287113 c.1171C>T p.R391* Substitution - Nonsense 11:45949458-45949458 - PCSI_0009_Pa_X COSM3375813 c.1119G>C p.G373G Substitution - coding silent 11:45950231-45950231 - 587238 COSM1220371 c.1196C>T p.P399L Substitution - Missense 11:45949433-45949433 - WSU-HN6 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-CG-5733-01 COSM4032946 c.467T>A p.I156N Substitution - Missense 11:45971261-45971261 - ESO-185 COSM1262055 c.291_293delACA p.Q100delQ Deletion - In frame 11:45979827-45979829 - SNU-175 COSM1353900 c.1817delC p.P606fs*>29 Deletion - Frameshift 11:45934056-45934056 - NOKSI COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - TCGA-ET-A3DW-01 COSM3368366 c.1607T>C p.M536T Substitution - Missense 11:45936568-45936568 - LPJ114 COSM1316579 c.317C>A p.A106D Substitution - Missense 11:45979803-45979803 - Pat_40_A COSM5838562 c.1522C>T p.R508C Substitution - Missense 11:45938240-45938240 - 61 COSM5739225 c.699G>T p.Q233H Substitution - Missense 11:45969815-45969815 - TCGA-F5-6814-01 COSM3415872 c.270A>G p.Q90Q Substitution - coding silent 11:45979850-45979850 - PDA_075 COSM5002173 c.1682-3delT p.? Unknown 11:45935742-45935742 - T636 COSM4713996 c.1339G>A p.V447I Substitution - Missense 11:45938285-45938285 - STC297 COSM1353900 c.1817delC p.P606fs*>29 Deletion - Frameshift 11:45934056-45934056 - TCGA-AA-3492-01 COSM1353900 c.1817delC p.P606fs*>29 Deletion - Frameshift 11:45934056-45934056 - T95 COSM4713991 c.1940C>T p.P647L Substitution - Missense 11:45934071-45934071 - B85-0 COSM1746239 c.79G>C p.D27H Substitution - Missense 11:46079142-46079142 - 49M COSM5592503 c.1850C>T p.S617F Substitution - Missense 11:45934023-45934023 - 23_tFL COSM4170333 c.153+2T>G p.? Unknown 11:46076752-46076752 - STC297 COSM1353899 c.1955delC p.P652fs*>29 Deletion - Frameshift 11:45934056-45934056 - TCGA-B5-A0JY-01 COSM927115 c.837G>T p.Q279H Substitution - Missense 11:45965474-45965474 - TCGA-AP-A059-01 COSM927128 c.130A>C p.I44L Substitution - Missense 11:46076777-46076777 - 2492728 COSM5729662 c.1408C>T p.P470S Substitution - Missense 11:45945881-45945881 - 112T COSM1237887 c.1339T>C p.S447P Substitution - Missense 11:45945950-45945950 - TCGA-B5-A0JY-01 COSM1585767 c.834G>T p.Q278H Substitution - Missense 11:45965474-45965474 - sysucc-311T COSM5477583 c.1112C>A p.S371Y Substitution - Missense 11:45950238-45950238 - TCGA-D9-A148-06 COSM3447497 c.192A>C p.V64V Substitution - coding silent 11:45979928-45979928 - CH-109-T2 COSM5650634 c.1418T>C p.L473P Substitution - Missense 11:45938206-45938206 - UM-SCC-47 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - PTC-70C COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - CAL33 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - SCC-25 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - TCGA-BR-8591-01 COSM4032944 c.648A>G p.V216V Substitution - coding silent 11:45969869-45969869 - T3724 COSM4713989 c.1955_1956insC p.A653fs*22 Insertion - Frameshift 11:45934055-45934056 - TCGA-BR-8369-01 COSM4032941 c.1276C>T p.R426W Substitution - Missense 11:45948895-45948895 - UM-SCC-11B COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - TCGA-HU-8602-01 COSM4032937 c.1742G>A p.G581D Substitution - Missense 11:45934131-45934131 - T3182 COSM4714000 c.206C>T p.P69L Substitution - Missense 11:45979914-45979914 - HN_63058 COSM125338 c.1729C>T p.R577C Substitution - Missense 11:45934144-45934144 - TCGA-C5-A7CH-01 COSM4837806 c.501T>C p.A167A Substitution - coding silent 11:45971227-45971227 - TCGA-ER-A2ND-06 COSM3447495 c.649C>A p.Q217K Substitution - Missense 11:45969865-45969865 - GHE0645 COSM5714572 c.1654A>T p.M552L Substitution - Missense 11:45934219-45934219 - GHE0645 COSM5714571 c.1792A>T p.M598L Substitution - Missense 11:45934219-45934219 - 6115122 COSM5556678 c.1740C>T p.H580H Substitution - coding silent 11:45934133-45934133 - TCGA-CK-5916-01 COSM1353900 c.1817delC p.P606fs*>29 Deletion - Frameshift 11:45934056-45934056 - TCGA-BR-8369-01 COSM4032942 c.1279C>T p.R427W Substitution - Missense 11:45948895-45948895 - TCGA-EI-6917-01 COSM3415871 c.1007C>A p.S336Y Substitution - Missense 11:45953615-45953615 - TCGA-AP-A056-01 COSM1585769 c.1108G>C p.V370L Substitution - Missense 11:45950242-45950242 - TCGA-AP-A059-01 COSM1585765 c.674C>T p.T225I Substitution - Missense 11:45969840-45969840 - UM-SCC-4 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - LS411 COSM1353899 c.1955delC p.P652fs*>29 Deletion - Frameshift 11:45934056-45934056 - TCGA-G4-6588-01 COSM1353903 c.1508G>A p.C503Y Substitution - Missense 11:45938254-45938254 - CHC884T COSM4950809 c.699G>A p.Q233Q Substitution - coding silent 11:45969815-45969815 - ESCC_91 COSM5636803 c.1555C>G p.L519V Substitution - Missense 11:45938207-45938207 - sysucc-311T COSM5477584 c.1115C>A p.S372Y Substitution - Missense 11:45950238-45950238 - TCGA-39-5016-01 COSM1146721 c.279G>T p.Q93H Substitution - Missense 11:45979841-45979841 - TCGA-HU-A4GQ-01 COSM4032939 c.1682G>A p.R561Q Substitution - Missense 11:45934191-45934191 - TCGA-D3-A3BZ-06 COSM3447499 c.175C>T p.R59W Substitution - Missense 11:45979945-45979945 - TCGA-13-2071-01 COSM1321678 c.846C>G p.H282Q Substitution - Missense 11:45965462-45965462 - LC_S6 COSM1190839 c.78delG p.D27fs*7 Deletion - Frameshift 11:46079143-46079143 - TCGA-B5-A11E-01 COSM927116 c.788G>T p.R263M Substitution - Missense 11:45965523-45965523 - TCGA-EP-A2KB-01 COSM4921473 c.107A>G p.Q36R Substitution - Missense 11:46076800-46076800 - TCGA-A5-A0VP-01 COSM1585771 c.1977G>A p.T659T Substitution - coding silent 11:45934034-45934034 - TCGA-AM-5821-01 COSM3752368 c.1040G>A p.R347H Substitution - Missense 11:45953579-45953579 - STC252 COSM4714001 c.206C>T p.P69L Substitution - Missense 11:45979914-45979914 - SNU-175 COSM374027 c.1410C>T p.D470D Substitution - coding silent 11:45938214-45938214 - NOKSI COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - S02234 COSM5675952 c.1095+2T>A p.? Unknown 11:45953525-45953525 - LPJ114 COSM1316581 c.313C>A p.H105N Substitution - Missense 11:45979807-45979807 - TCGA-D9-A6EC-06 COSM4405891 c.1467T>G p.D489E Substitution - Missense 11:45938295-45938295 - 587256 COSM1220375 c.763C>T p.L255F Substitution - Missense 11:45965548-45965548 - 587238 COSM1220370 c.1193C>T p.P398L Substitution - Missense 11:45949433-45949433 - 454 COSM4435981 c.1219G>C p.E407Q Substitution - Missense 11:45949410-45949410 - WSU-HN8 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - BICR_22 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-D9-A6EC-06 COSM4405892 c.1329T>G p.D443E Substitution - Missense 11:45938295-45938295 - PD11368a COSM5786288 c.707G>T p.R236L Substitution - Missense 11:45965604-45965604 - SNU-C2B COSM1353906 c.599delA p.N200fs*67 Deletion - Frameshift 11:45971129-45971129 - CHEWS014 COSM4574376 c.370A>G p.T124A Substitution - Missense 11:45971358-45971358 - TCGA-DS-A0VL-01 COSM458631 c.1036G>A p.E346K Substitution - Missense 11:45953586-45953586 - ESO-732 COSM1262058 c.1989C>T p.S663S Substitution - coding silent 11:45934022-45934022 - TCGA-GF-A6C9-06 COSM4903761 c.1996T>A p.S666T Substitution - Missense 11:45934015-45934015 - TCGA-AP-A056-01 COSM927112 c.1111G>C p.V371L Substitution - Missense 11:45950242-45950242 - RK084_C01 COSM1627980 c.811C>G p.P271A Substitution - Missense 11:45965497-45965497 - TCGA-G4-6588-01 COSM1353899 c.1955delC p.P652fs*>29 Deletion - Frameshift 11:45934056-45934056 - PT27 COSM5905875 c.662C>T p.P221L Substitution - Missense 11:45969855-45969855 - TARGET-30-PARBGP COSM1287111 c.704T>C p.V235A Substitution - Missense 11:45965607-45965607 - HN_62854 COSM125337 c.1791C>G p.I597M Substitution - Missense 11:45934082-45934082 - CHC2113T COSM4788393 c.1990C>A p.P664T Substitution - Missense 11:45934021-45934021 - PTC-14C COSM4145726 c.1558A>G p.K520E Substitution - Missense 11:45935725-45935725 - D12 COSM5006867 c.705A>C p.R235R Substitution - coding silent 11:45965603-45965603 - C086 COSM5536978 c.1435C>T p.P479S Substitution - Missense 11:45945854-45945854 - ORL-48 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - CH-109-T2 COSM5650633 c.1556T>C p.L519P Substitution - Missense 11:45938206-45938206 - LUAD-NYU408 COSM374027 c.1410C>T p.D470D Substitution - coding silent 11:45938214-45938214 - 33 COSM4713993 c.1738C>T p.R580* Substitution - Nonsense 11:45935683-45935683 - TCGA-ET-A3DW-01 COSM3368367 c.1469T>C p.M490T Substitution - Missense 11:45936568-45936568 - TCGA-AC-A23H-01 COSM3809263 c.988G>C p.E330Q Substitution - Missense 11:45965323-45965323 - 1N05-VS-1T05 COSM4972802 c.301T>C p.Y101H Substitution - Missense 11:45979819-45979819 - TCGA-BJ-A0ZC-01 COSM3368369 c.1335C>T p.C445C Substitution - coding silent 11:45938289-45938289 - tumor_4163639 COSM1160985 c.1625C>A p.A542E Substitution - Missense 11:45936550-45936550 - TCGA-HU-8602-01 COSM4032936 c.1880G>A p.G627D Substitution - Missense 11:45934131-45934131 - TCGA-G4-6588-01 COSM1353900 c.1817delC p.P606fs*>29 Deletion - Frameshift 11:45934056-45934056 - 24T COSM108121 c.1674C>T p.I558I Substitution - coding silent 11:45934199-45934199 - PT27 COSM5905876 c.658C>T p.P220S Substitution - Missense 11:45969856-45969856 - T3724 COSM4713990 c.1817_1818insC p.A607fs*22 Insertion - Frameshift 11:45934055-45934056 - TCGA-D9-A148-06 COSM3447498 c.192A>C p.V64V Substitution - coding silent 11:45979928-45979928 - S02376 COSM5696869 c.1572G>T p.K524N Substitution - Missense 11:45938190-45938190 - ESO-874 COSM1262061 c.432C>T p.T144T Substitution - coding silent 11:45971296-45971296 - TCGA-ER-A2ND-06 COSM3447496 c.652C>A p.Q218K Substitution - Missense 11:45969865-45969865 - Pat_04_A COSM5838569 c.112C>T p.H38Y Substitution - Missense 11:46076795-46076795 - UM-SCC-2 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - Patient_5 COSM1585771 c.1977G>A p.T659T Substitution - coding silent 11:45934034-45934034 - TCGA-AG-3892-01 COSM257719 c.1560A>G p.K520K Substitution - coding silent 11:45935723-45935723 - TCGA-Q1-A5R2-01 COSM4850382 c.414G>A p.L138L Substitution - coding silent 11:45971314-45971314 - 2_RESISTANT COSM1723221 c.1387A>G p.T463A Substitution - Missense 11:45945902-45945902 - TCGA-Q1-A5R2-01 COSM4850381 c.414G>A p.L138L Substitution - coding silent 11:45971314-45971314 - TCGA-GF-A6C9-06 COSM4903762 c.1858T>A p.S620T Substitution - Missense 11:45934015-45934015 - HCC008T COSM5807419 c.1082A>T p.E361V Substitution - Missense 11:45953540-45953540 - WSU-HN8 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - TCGA-AA-3489-01 COSM1353909 c.408C>T p.L136L Substitution - coding silent 11:45971320-45971320 - CSCC-40-T COSM4468014 c.1382C>T p.S461F Substitution - Missense 11:45938242-45938242 - UM-SCC-11B COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - WSU-HN6 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - TCGA-85-6560-01 COSM1146720 c.1205G>A p.G402E Substitution - Missense 11:45949421-45949421 - ESO-732 COSM1262059 c.1851C>T p.S617S Substitution - coding silent 11:45934022-45934022 - CHC2113T COSM4788394 c.1852C>A p.P618T Substitution - Missense 11:45934021-45934021 - 134430 COSM326140 c.401T>C p.L134P Substitution - Missense 11:45971327-45971327 - HCC127T COSM5822918 c.698A>T p.Q233L Substitution - Missense 11:45969816-45969816 - LS411 COSM1353900 c.1817delC p.P606fs*>29 Deletion - Frameshift 11:45934056-45934056 - ESO-874 COSM1262060 c.432C>T p.T144T Substitution - coding silent 11:45971296-45971296 - WSU-HN13 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - PD11368a COSM5786287 c.704G>T p.R235L Substitution - Missense 11:45965604-45965604 - TCGA-CG-5733-01 COSM4032947 c.467T>A p.I156N Substitution - Missense 11:45971261-45971261 - Pat_46_A COSM5838565 c.851_852CC>TT p.P284L Substitution - Missense 11:45965459-45965460 - CSCC-40-T COSM4468013 c.1520C>T p.S507F Substitution - Missense 11:45938242-45938242 - PTC-10C COSM4145729 c.670C>G p.L224V Substitution - Missense 11:45969844-45969844 - TCGA-F5-6814-01 COSM3415873 c.270A>G p.Q90Q Substitution - coding silent 11:45979850-45979850 - C008 COSM5523457 c.772C>T p.P258S Substitution - Missense 11:45965539-45965539 - TCGA-DD-A11A-01 COSM4940375 c.1005A>G p.K335K Substitution - coding silent 11:45953617-45953617 - TCGA-EI-6917-01 COSM3415870 c.1004C>A p.S335Y Substitution - Missense 11:45953615-45953615 - CHC2113T COSM4788394 c.1852C>A p.P618T Substitution - Missense 11:45934021-45934021 - TCGA-A5-A0VP-01 COSM927107 c.1839G>A p.T613T Substitution - coding silent 11:45934034-45934034 - ME009T COSM223456 c.340C>T p.P114S Substitution - Missense 11:45979780-45979780 - 8044436 COSM3383484 c.793G>A p.V265I Substitution - Missense 11:45965518-45965518 - CHC884T COSM4950810 c.702G>A p.Q234Q Substitution - coding silent 11:45969815-45969815 - 61 COSM5739226 c.702G>T p.Q234H Substitution - Missense 11:45969815-45969815 - MD-051 COSM302912 c.1783G>T p.G595W Substitution - Missense 11:45934090-45934090 - SCC-15 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - T3301 COSM4713998 c.680G>A p.R227H Substitution - Missense 11:45969834-45969834 - TCGA-BJ-A0ZC-01 COSM3368368 c.1473C>T p.C491C Substitution - coding silent 11:45938289-45938289 - BD124T COSM5492782 c.1029_1032delAACA p.T344fs*28 Deletion - Frameshift 11:45953587-45953590 - TCGA-D3-A3BZ-06 COSM3447500 c.175C>T p.R59W Substitution - Missense 11:45979945-45979945 - TCGA-AC-A23H-01 COSM3809262 c.985G>C p.E329Q Substitution - Missense 11:45965323-45965323 - LPJ114 COSM1316580 c.317C>A p.A106D Substitution - Missense 11:45979803-45979803 - TCGA-BP-4158-01 COSM3359193 c.1785G>T p.G595G Substitution - coding silent 11:45934088-45934088 - LUAD-D02326 COSM393080 c.1767C>T p.D589D Substitution - coding silent 11:45934106-45934106 - 6115122 COSM5556677 c.1878C>T p.H626H Substitution - coding silent 11:45934133-45934133 - Pat_40_A COSM5838563 c.1384C>T p.R462C Substitution - Missense 11:45938240-45938240 - TCGA-EE-A3JA-06 COSM3447490 c.783C>T p.I261I Substitution - coding silent 11:45965528-45965528 - TCGA-EP-A2KB-01 COSM4921472 c.107A>G p.Q36R Substitution - Missense 11:46076800-46076800 - Patient_5 COSM927107 c.1839G>A p.T613T Substitution - coding silent 11:45934034-45934034 - pfg180T COSM4754253 c.1714G>T p.V572L Substitution - Missense 11:45934159-45934159 - TCGA-AA-3672-01 COSM267173 c.931A>G p.T311A Substitution - Missense 11:45965380-45965380 - Pat_04_A COSM5838568 c.112C>T p.H38Y Substitution - Missense 11:46076795-46076795 - 1N05-VS-1T05 COSM4972801 c.301T>C p.Y101H Substitution - Missense 11:45979819-45979819 - TCGA-CK-5916-01 COSM1353899 c.1955delC p.P652fs*>29 Deletion - Frameshift 11:45934056-45934056 - J65_T COSM3979657 c.969G>C p.Q323H Substitution - Missense 11:45965342-45965342 - ESO-185 COSM1262054 c.291_293delACA p.Q100delQ Deletion - In frame 11:45979827-45979829 - D12 COSM5006868 c.708A>C p.R236R Substitution - coding silent 11:45965603-45965603 - YUKAT COSM5372497 c.82C>T p.P28S Substitution - Missense 11:46079139-46079139 - TCGA-CG-5721-01 COSM4032945 c.480C>T p.T160T Substitution - coding silent 11:45971248-45971248 - CSCC-11-T COSM4564443 c.1195_1196CC>TT p.P399L Substitution - Missense 11:45949433-45949434 - TCGA-BR-8081-01 COSM4032949 c.315C>T p.H105H Substitution - coding silent 11:45979805-45979805 - BD124T COSM5492783 c.1032_1035delAACA p.T345fs*28 Deletion - Frameshift 11:45953587-45953590 - CSCC-7-T COSM4485156 c.28C>G p.L10V Substitution - Missense 11:46084192-46084192 - TCGA-AP-A054-01 COSM927109 c.1467+2T>C p.? Unknown 11:45938155-45938155 - 23_tFL COSM4170334 c.153+2T>G p.? Unknown 11:46076752-46076752 - TCGA-AP-A059-01 COSM927117 c.677C>T p.T226I Substitution - Missense 11:45969840-45969840 - PT27 COSM5905877 c.661C>T p.P221S Substitution - Missense 11:45969856-45969856 - SCC-9 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 - LPJ114 COSM1316582 c.313C>A p.H105N Substitution - Missense 11:45979807-45979807 - 587342 COSM1220373 c.1841C>T p.P614L Substitution - Missense 11:45934032-45934032 - TCGA-EE-A2MC-06 COSM3447488 c.792C>T p.P264P Substitution - coding silent 11:45965519-45965519 - S02289 COSM5685905 c.1289-2A>T p.? Unknown 11:45946100-45946100 - CSCC-7-T COSM4485155 c.28C>G p.L10V Substitution - Missense 11:46084192-46084192 - TCGA-EE-A2MC-06 COSM3447487 c.789C>T p.P263P Substitution - coding silent 11:45965519-45965519 - TCGA-HT-7475-01 COSM3967515 c.1351A>G p.S451G Substitution - Missense 11:45938273-45938273 - J65_T COSM3979656 c.966G>C p.Q322H Substitution - Missense 11:45965342-45965342 - T3182 COSM4714001 c.206C>T p.P69L Substitution - Missense 11:45979914-45979914 - PCSI_0009_Pa_X COSM3375814 c.1122G>C p.G374G Substitution - coding silent 11:45950231-45950231 - T3091 COSM4713993 c.1738C>T p.R580* Substitution - Nonsense 11:45935683-45935683 - TCGA-AM-5821-01 COSM3752369 c.1043G>A p.R348H Substitution - Missense 11:45953579-45953579 - 49M COSM5592502 c.1988C>T p.S663F Substitution - Missense 11:45934023-45934023 - tumor_4163639 COSM1160987 c.1617G>A p.K539K Substitution - coding silent 11:45936558-45936558 - pfg180T COSM4754252 c.1852G>T p.V618L Substitution - Missense 11:45934159-45934159 - HCC19T COSM1604561 c.1409C>T p.P470L Substitution - Missense 11:45945880-45945880 - S02376 COSM5696870 c.1434G>T p.K478N Substitution - Missense 11:45938190-45938190 - 12 COSM5732671 c.704G>A p.R235Q Substitution - Missense 11:45965604-45965604 - TARGET-30-PARBGP COSM1287110 c.701T>C p.V234A Substitution - Missense 11:45965607-45965607 - YUKAT COSM5372498 c.82C>T p.P28S Substitution - Missense 11:46079139-46079139 - TCGA-BS-A0UA-01 COSM927110 c.1312C>T p.L438L Substitution - coding silent 11:45945977-45945977 - UM-SCC-17B COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - TCGA-LP-A5U2-01 COSM4833925 c.2012C>T p.A671V Substitution - Missense 11:45933999-45933999 - TCGA-HT-7475-01 COSM3967514 c.1489A>G p.S497G Substitution - Missense 11:45938273-45938273 - pfg277T COSM4754257 c.464C>T p.T155I Substitution - Missense 11:45971264-45971264 - RK084_C01 COSM1627981 c.814C>G p.P272A Substitution - Missense 11:45965497-45965497 - SCC-9 COSM4145728 c.975C>A p.S325R Substitution - Missense 11:45965336-45965336 - T95 COSM4713992 c.1802C>T p.P601L Substitution - Missense 11:45934071-45934071 - T636 COSM4713995 c.1477G>A p.V493I Substitution - Missense 11:45938285-45938285 - SNU-175 COSM1979908 c.1548C>T p.D516D Substitution - coding silent 11:45938214-45938214 - TCGA-EE-A2MR-06 COSM3447486 c.1334C>T p.P445L Substitution - Missense 11:45945955-45945955 - TCGA-AA-A010-01 COSM283990 c.1086G>A p.E362E Substitution - coding silent 11:45953536-45953536 - 454 COSM4435980 c.1216G>C p.E406Q Substitution - Missense 11:45949410-45949410 - HCC008T COSM5807418 c.1079A>T p.E360V Substitution - Missense 11:45953540-45953540 - 33 COSM4713994 c.1600C>T p.R534* Substitution - Nonsense 11:45935683-45935683 - TCGA-B5-A0K2-01 COSM1152357 c.850G>A p.V284I Substitution - Missense 11:45965458-45965458 - B85-0-Tumor COSM1746239 c.79G>C p.D27H Substitution - Missense 11:46079142-46079142 - STC252 COSM4714000 c.206C>T p.P69L Substitution - Missense 11:45979914-45979914 - TCGA-G4-6588-01 COSM1353904 c.1370G>A p.C457Y Substitution - Missense 11:45938254-45938254 - TCGA-AA-3489-01 COSM1353908 c.408C>T p.L136L Substitution - coding silent 11:45971320-45971320 - SNU-C2B COSM1353907 c.599delA p.N200fs*68 Deletion - Frameshift 11:45971129-45971129 - WM3211 COSM3727708 c.1891G>T p.E631* Substitution - Nonsense 11:45933982-45933982 - BICR_22 COSM4145727 c.972C>A p.S324R Substitution - Missense 11:45965336-45965336 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.502418;Hs.502458 11p11.2 608325

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L134P c.401T>C 11 45992878 SCLC A G Missense p.M536T c.1607T>C 11 45958119 THCA A G Missense p.V234A c.701T>C 11 45987158 NB A G SpliceDonorSNV . c.1605+2T>C 11 45959706 UCEC A G Synonymous p.S497S c.1491T>C 11 45959822 CM A T Missense p.I156N c.467T>A 11 45992812 STAD A T Missense p.I543N c.1628T>A 11 45958098 CM C A Missense p.Q93H c.279G>T 11 46001392 LUSC C A Missense p.R59L c.176G>T 11 46001495 STAD C A Synonymous p.G641G c.1923G>T 11 45955639 RCCC C A Synonymous p.R359R c.1077G>T 11 45975093 LUAD C G 3-UTRSNV . c.2040+159G>C 11 45955363 ALL C G IntronicSNV . c.154-27124G>C 11 46028641 CLL C T Missense p.G402E c.1205G>A 11 45970972 LUSC C T Missense p.R430H c.1289G>A 11 45967551 HNSC C T Missense p.V284I c.850G>A 11 45987009 UCEC C T Synonymous p.K539K c.1617G>A 11 45958109 DLBCL C T Synonymous p.L134L c.400C>T 11 45992879 GBM G A IntronicSNV . c.1286-55C>T 11 45967609 CM G A IntronicSNV . c.1786-17C>T 11 45955793 CM G A Missense p.L443F c.1327C>T 11 45967513 CM G A Missense p.P114S c.340C>T 11 46001331 CM G A Missense p.P210S c.628C>T 11 45991437 LUAD G A Missense p.P660S c.1978C>T 11 45955584 CM G A Missense p.R59W c.175C>T 11 46001496 CM G A Missense p.R623C c.1867C>T 11 45955695 HNSC G A Missense p.S614F c.1841C>T 11 45955721 CM G A Nonsense p.R390* c.1168C>T 11 45971009 NB G A Synonymous p.C491C c.1473C>T 11 45959840 THCA G A Synonymous p.I260I c.780C>T 11 45987079 CM G A Synonymous p.L438L c.1312C>T 11 45967528 UCEC G A Synonymous p.P263P c.789C>T 11 45987070 CM G A Synonymous p.S447S c.1341C>T 11 45967499 CM G A Synonymous p.S631S c.1893C>T 11 45955669 CM G A Synonymous p.S663S c.1989C>T 11 45955573 ESCA G A Synonymous p.T144T c.432C>T 11 45992847 ESCA G A Synonymous p.T160T c.480C>T 11 45992799 COREAD G A Synonymous p.T603T c.1809C>T 11 45955753 CM G A Synonymous p.V404V c.1212C>T 11 45970965 HNSC G C Missense p.I643M c.1929C>G 11 45955633 HNSC G C Missense p.P271A c.811C>G 11 45987048 HC - G Frameshift p.A653Cfs*22 c.1955dupC 11 45955607 LUAD G T Missense p.A354E c.1061C>A 11 45975109 HNSC G T Missense p.A542E c.1625C>A 11 45958101 DLBCL G T Missense p.P470H c.1409C>A 11 45967431 OV G T Missense p.Q217K c.649C>A 11 45991416 CM T A Synonymous p.L6L c.18A>T 11 46105753 LUAD T C IntronicSNV . c.154-35649A>G 11 46037166 CLL T C Missense p.S497G c.1489A>G 11 45959824 LGG T G Missense p.K268T c.803A>C 11 45987056 ESCA T G Synonymous p.V64V c.192A>C 11 46001479 CM TGT - InFrameDeletion p.Q100delQ c.291_293delACA 11 46001378 ESCA TTTC - Frameshift p.K34Nfs*13 c.102_105delGAAA 11 46098353 LGG