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 20 62378298 62378298 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr20:62378298G>A c.1755C>T c.(1753-1755)ttC>ttT p.F585F BLCA 20 62407172 62407172 + Missense_Mutation SNP G G C TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr20:62407172G>C c.1081C>G c.(1081-1083)Ctg>Gtg p.L361V BLCA 20 62407302 62407302 + Silent SNP G G A TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 g.chr20:62407302G>A c.951C>T c.(949-951)tcC>tcT p.S317S BLCA 20 62421337 62421337 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr20:62421337C>T c.774G>A c.(772-774)caG>caA p.Q258Q BLCA 20 62421402 62421402 + Nonsense_Mutation SNP G G A TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr20:62421402G>A c.709C>T c.(709-711)Cag>Tag p.Q237* BLCA 20 62421678 62421678 + Missense_Mutation SNP C C G TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr20:62421678C>G c.433G>C c.(433-435)Gag>Cag p.E145Q BLCA 20 62421703 62421703 + Silent SNP G G A TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr20:62421703G>A c.408C>T c.(406-408)gaC>gaT p.D136D BLCA 20 62421739 62421739 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr20:62421739G>A c.372C>T c.(370-372)ttC>ttT p.F124F BLCA 20 62421844 62421844 + Missense_Mutation SNP G G C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 g.chr20:62421844G>C c.267C>G c.(265-267)ttC>ttG p.F89L BLCA 20 62422018 62422018 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr20:62422018G>A c.93C>T c.(91-93)tgC>tgT p.C31C BRCA 20 62407185 62407185 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:62407185C>T c.1068G>A c.(1066-1068)gaG>gaA p.E356E BRCA 20 62421190 62421190 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr20:62421190G>A c.921C>T c.(919-921)ttC>ttT p.F307F BRCA 20 62421337 62421337 + Missense_Mutation SNP C C G TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 g.chr20:62421337C>G c.774G>C c.(772-774)caG>caC p.Q258H BRCA 20 62421927 62421928 + Frame_Shift_Ins INS - - T TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr20:62421927_62421928insT c.183_184insA c.(181-186)tgccagfs p.Q62fs CESC 20 62378450 62378450 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr20:62378450G>C c.1603C>G c.(1603-1605)Ctg>Gtg p.L535V CESC 20 62421190 62421190 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr20:62421190G>A c.921C>T c.(919-921)ttC>ttT p.F307F CESC 20 62421495 62421495 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr20:62421495C>T c.616G>A c.(616-618)Gat>Aat p.D206N COAD 20 62378531 62378531 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr20:62378531C>A c.1522G>T c.(1522-1524)Ggc>Tgc p.G508C COAD 20 62407097 62407097 + Missense_Mutation SNP C C T TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr20:62407097C>T c.1156G>A c.(1156-1158)Gac>Aac p.D386N COAD 20 62407140 62407140 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr20:62407140G>A c.1113C>T c.(1111-1113)cgC>cgT p.R371R COAD 20 62421202 62421202 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr20:62421202C>T c.909G>A c.(907-909)tcG>tcA p.S303S COAD 20 62421233 62421233 + Missense_Mutation SNP C C G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr20:62421233C>G c.878G>C c.(877-879)aGc>aCc p.S293T COAD 20 62421306 62421306 + Nonsense_Mutation SNP G G A TCGA-AZ-6607-01A-11D-1835-10 TCGA-AZ-6607-11A-01D-1835-10 g.chr20:62421306G>A c.805C>T c.(805-807)Cga>Tga p.R269* COAD 20 62421432 62421432 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr20:62421432G>A c.679C>T c.(679-681)Cgc>Tgc p.R227C COAD 20 62421516 62421516 + Nonsense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr20:62421516C>A c.595G>T c.(595-597)Gag>Tag p.E199* COAD 20 62421523 62421523 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:62421523G>A c.588C>T c.(586-588)taC>taT p.Y196Y COAD 20 62421622 62421622 + Silent SNP A A G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr20:62421622A>G c.489T>C c.(487-489)gcT>gcC p.A163A COAD 20 62421630 62421630 + Missense_Mutation SNP C C T TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr20:62421630C>T c.481G>A c.(481-483)Gtg>Atg p.V161M COAD 20 62421649 62421649 + Silent SNP C C T TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr20:62421649C>T c.462G>A c.(460-462)acG>acA p.T154T COAD 20 62421650 62421650 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr20:62421650G>A c.461C>T c.(460-462)aCg>aTg p.T154M COAD 20 62421706 62421706 + Silent SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr20:62421706C>T c.405G>A c.(403-405)tcG>tcA p.S135S COAD 20 62421759 62421759 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr20:62421759C>T c.352G>A c.(352-354)Gtg>Atg p.V118M COAD 20 62421801 62421801 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr20:62421801C>T c.310G>A c.(310-312)Gag>Aag p.E104K COAD 20 62421805 62421805 + Silent SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:62421805G>T c.306C>A c.(304-306)gtC>gtA p.V102V COAD 20 62421840 62421840 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr20:62421840A>G c.271T>C c.(271-273)Tac>Cac p.Y91H COAD 20 62421840 62421840 + Missense_Mutation SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:62421840A>G c.271T>C c.(271-273)Tac>Cac p.Y91H COAD 20 62422084 62422084 + Silent SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr20:62422084T>C c.27A>G c.(25-27)gaA>gaG p.E9E COAD 20 62422085 62422085 + Missense_Mutation SNP T T C TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr20:62422085T>C c.26A>G c.(25-27)gAa>gGa p.E9G COADREAD 20 62378349 62378349 + Silent SNP C C T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr20:62378349C>T c.1704G>A c.(1702-1704)gaG>gaA p.E568E COADREAD 20 62378364 62378364 + Silent SNP C C T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr20:62378364C>T c.1689G>A c.(1687-1689)gcG>gcA p.A563A COADREAD 20 62378531 62378531 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr20:62378531C>A c.1522G>T c.(1522-1524)Ggc>Tgc p.G508C COADREAD 20 62407097 62407097 + Missense_Mutation SNP C C T TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr20:62407097C>T c.1156G>A c.(1156-1158)Gac>Aac p.D386N COADREAD 20 62407140 62407140 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr20:62407140G>A c.1113C>T c.(1111-1113)cgC>cgT p.R371R COADREAD 20 62421202 62421202 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr20:62421202C>T c.909G>A c.(907-909)tcG>tcA p.S303S COADREAD 20 62421233 62421233 + Missense_Mutation SNP C C G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr20:62421233C>G c.878G>C c.(877-879)aGc>aCc p.S293T COADREAD 20 62421306 62421306 + Nonsense_Mutation SNP G G A TCGA-AZ-6607-01A-11D-1835-10 TCGA-AZ-6607-11A-01D-1835-10 g.chr20:62421306G>A c.805C>T c.(805-807)Cga>Tga p.R269* COADREAD 20 62421432 62421432 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr20:62421432G>A c.679C>T c.(679-681)Cgc>Tgc p.R227C COADREAD 20 62421516 62421516 + Nonsense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr20:62421516C>A c.595G>T c.(595-597)Gag>Tag p.E199* COADREAD 20 62421523 62421523 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:62421523G>A c.588C>T c.(586-588)taC>taT p.Y196Y COADREAD 20 62421622 62421622 + Silent SNP A A G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr20:62421622A>G c.489T>C c.(487-489)gcT>gcC p.A163A COADREAD 20 62421630 62421630 + Missense_Mutation SNP C C T TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr20:62421630C>T c.481G>A c.(481-483)Gtg>Atg p.V161M COADREAD 20 62421649 62421649 + Silent SNP C C T TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr20:62421649C>T c.462G>A c.(460-462)acG>acA p.T154T COADREAD 20 62421650 62421650 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr20:62421650G>A c.461C>T c.(460-462)aCg>aTg p.T154M COADREAD 20 62421706 62421706 + Silent SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr20:62421706C>T c.405G>A c.(403-405)tcG>tcA p.S135S COADREAD 20 62421759 62421759 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr20:62421759C>T c.352G>A c.(352-354)Gtg>Atg p.V118M COADREAD 20 62421801 62421801 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr20:62421801C>T c.310G>A c.(310-312)Gag>Aag p.E104K COADREAD 20 62421805 62421805 + Silent SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:62421805G>T c.306C>A c.(304-306)gtC>gtA p.V102V COADREAD 20 62421840 62421840 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr20:62421840A>G c.271T>C c.(271-273)Tac>Cac p.Y91H COADREAD 20 62421840 62421840 + Missense_Mutation SNP A A G TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:62421840A>G c.271T>C c.(271-273)Tac>Cac p.Y91H COADREAD 20 62422078 62422078 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:62422078C>T c.33G>A c.(31-33)acG>acA p.T11T COADREAD 20 62422084 62422084 + Silent SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr20:62422084T>C c.27A>G c.(25-27)gaA>gaG p.E9E COADREAD 20 62422085 62422085 + Missense_Mutation SNP T T C TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr20:62422085T>C c.26A>G c.(25-27)gAa>gGa p.E9G COADREAD 20 62422100 62422100 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:62422100C>T c.11G>A c.(10-12)cGa>cAa p.R4Q ESCA 20 62421604 62421604 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 g.chr20:62421604C>T c.507G>A c.(505-507)ccG>ccA p.P169P ESCA 20 62422008 62422008 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr20:62422008C>T c.103G>A c.(103-105)Gtg>Atg p.V35M GBM 20 62421878 62421878 + Missense_Mutation SNP A A C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 g.chr20:62421878A>C c.233T>G c.(232-234)gTc>gGc p.V78G GBMLGG 20 62378406 62378406 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:62378406G>A c.1647C>T c.(1645-1647)ggC>ggT p.G549G GBMLGG 20 62384176 62384176 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:62384176G>T c.1261C>A c.(1261-1263)Ccg>Acg p.P421T GBMLGG 20 62421634 62421634 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:62421634C>T c.477G>A c.(475-477)tcG>tcA p.S159S GBMLGG 20 62421878 62421878 + Missense_Mutation SNP A A C TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 g.chr20:62421878A>C c.233T>G c.(232-234)gTc>gGc p.V78G GBMLGG 20 62422012 62422012 + Silent SNP G G T TCGA-S9-A7IZ-01A-11D-A34A-08 TCGA-S9-A7IZ-10A-01D-A34A-08 g.chr20:62422012G>T c.99C>A c.(97-99)gtC>gtA p.V33V HNSC 20 62378317 62378317 + Missense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 g.chr20:62378317C>T c.1736G>A c.(1735-1737)gGa>gAa p.G579E HNSC 20 62378483 62378483 + Missense_Mutation SNP G G C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr20:62378483G>C c.1570C>G c.(1570-1572)Cca>Gca p.P524A HNSC 20 62421367 62421367 + Silent SNP G G A TCGA-CN-4725-01A-01D-1434-08 TCGA-CN-4725-10A-01D-1434-08 g.chr20:62421367G>A c.744C>T c.(742-744)gaC>gaT p.D248D HNSC 20 62421395 62421395 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr20:62421395C>T c.716G>A c.(715-717)gGa>gAa p.G239E HNSC 20 62421736 62421736 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr20:62421736G>C c.375C>G c.(373-375)atC>atG p.I125M HNSC 20 62421836 62421836 + Nonsense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 g.chr20:62421836G>C c.275C>G c.(274-276)tCa>tGa p.S92* KICH 20 62384061 62384061 + Missense_Mutation SNP T T C TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr20:62384061T>C c.1376A>G c.(1375-1377)gAg>gGg p.E459G KIPAN 20 62378613 62378613 + Missense_Mutation SNP G G T TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr20:62378613G>T c.1440C>A c.(1438-1440)agC>agA p.S480R KIPAN 20 62384061 62384061 + Missense_Mutation SNP T T C TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr20:62384061T>C c.1376A>G c.(1375-1377)gAg>gGg p.E459G KIPAN 20 62407208 62407208 + Silent SNP G G A TCGA-B3-4104-01A-01D-1458-08 TCGA-B3-4104-10A-01D-1458-08 g.chr20:62407208G>A c.1045C>T c.(1045-1047)Ctg>Ttg p.L349L KIPAN 20 62407316 62407316 + Splice_Site SNP C C T TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr20:62407316C>T c.e3-1 KIPAN 20 62421455 62421455 + Missense_Mutation SNP C C G TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr20:62421455C>G c.656G>C c.(655-657)gGa>gCa p.G219A KIRC 20 62407316 62407316 + Splice_Site SNP C C T TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr20:62407316C>T c.e3-1 KIRP 20 62378613 62378613 + Missense_Mutation SNP G G T TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr20:62378613G>T c.1440C>A c.(1438-1440)agC>agA p.S480R KIRP 20 62407208 62407208 + Silent SNP G G A TCGA-B3-4104-01A-01D-1458-08 TCGA-B3-4104-10A-01D-1458-08 g.chr20:62407208G>A c.1045C>T c.(1045-1047)Ctg>Ttg p.L349L KIRP 20 62421455 62421455 + Missense_Mutation SNP C C G TCGA-BQ-7048-01A-11D-1961-08 TCGA-BQ-7048-11A-01D-1961-08 g.chr20:62421455C>G c.656G>C c.(655-657)gGa>gCa p.G219A LGG 20 62378406 62378406 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:62378406G>A c.1647C>T c.(1645-1647)ggC>ggT p.G549G LGG 20 62384176 62384176 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:62384176G>T c.1261C>A c.(1261-1263)Ccg>Acg p.P421T LGG 20 62421634 62421634 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:62421634C>T c.477G>A c.(475-477)tcG>tcA p.S159S LGG 20 62422012 62422012 + Silent SNP G G T TCGA-S9-A7IZ-01A-11D-A34A-08 TCGA-S9-A7IZ-10A-01D-A34A-08 g.chr20:62422012G>T c.99C>A c.(97-99)gtC>gtA p.V33V LIHC 20 62378586 62378586 + Silent SNP C C A TCGA-DD-AAD8-01A-11D-A40R-10 TCGA-DD-AAD8-10A-01D-A40U-10 g.chr20:62378586C>A c.1467G>T c.(1465-1467)gtG>gtT p.V489V LIHC 20 62421227 62421227 + Missense_Mutation SNP G G T TCGA-ED-A8O5-01A-11D-A35Z-10 TCGA-ED-A8O5-10A-01D-A35Z-10 g.chr20:62421227G>T c.884C>A c.(883-885)cCg>cAg p.P295Q LIHC 20 62421975 62421975 + Missense_Mutation SNP T T C TCGA-DD-AAVR-01A-11D-A40R-10 TCGA-DD-AAVR-10A-01D-A40U-10 g.chr20:62421975T>C c.136A>G c.(136-138)Aag>Gag p.K46E LUAD 20 62407080 62407080 + Silent SNP G G A TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr20:62407080G>A c.1173C>T c.(1171-1173)gaC>gaT p.D391D LUAD 20 62407137 62407138 + Frame_Shift_Del DEL CG CG - TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr20:62407137_62407138delCG c.1115_1116delCG c.(1114-1116)gcgfs p.A373fs LUAD 20 62407201 62407201 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr20:62407201G>T c.1052C>A c.(1051-1053)cCt>cAt p.P351H LUAD 20 62407222 62407222 + Missense_Mutation SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr20:62407222C>A c.1031G>T c.(1030-1032)gGa>gTa p.G344V LUAD 20 62421331 62421331 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr20:62421331A>T c.780T>A c.(778-780)gcT>gcA p.A260A LUAD 20 62421698 62421698 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr20:62421698G>A c.413C>T c.(412-414)tCa>tTa p.S138L LUAD 20 62421767 62421767 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr20:62421767G>T c.344C>A c.(343-345)aCg>aAg p.T115K LUAD 20 62421979 62421979 + Silent SNP C C T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr20:62421979C>T c.132G>A c.(130-132)gcG>gcA p.A44A LUSC 20 62378374 62378374 + Missense_Mutation SNP G G A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 g.chr20:62378374G>A c.1679C>T c.(1678-1680)gCg>gTg p.A560V LUSC 20 62407098 62407098 + Silent SNP G G A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr20:62407098G>A c.1155C>T c.(1153-1155)gcC>gcT p.A385A LUSC 20 62421182 62421182 + Missense_Mutation SNP C C T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr20:62421182C>T c.929G>A c.(928-930)cGa>cAa p.R310Q LUSC 20 62421809 62421809 + Missense_Mutation SNP T T A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr20:62421809T>A c.302A>T c.(301-303)aAc>aTc p.N101I LUSC 20 62421833 62421833 + Missense_Mutation SNP G G A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr20:62421833G>A c.278C>T c.(277-279)gCg>gTg p.A93V OV 20 62421516 62421516 + Nonsense_Mutation SNP C C A TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 g.chr20:62421516C>A c.595G>T c.(595-597)Gag>Tag p.E199* OV 20 62422006 62422006 + Silent SNP C C A TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 g.chr20:62422006C>A c.105G>T c.(103-105)gtG>gtT p.V35V PAAD 20 62407098 62407098 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:62407098G>A c.1155C>T c.(1153-1155)gcC>gcT p.A385A PAAD 20 62421293 62421293 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:62421293C>T c.818G>A c.(817-819)cGg>cAg p.R273Q PRAD 20 62384051 62384051 + Silent SNP C C T TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 g.chr20:62384051C>T c.1386G>A c.(1384-1386)aaG>aaA p.K462K PRAD 20 62421621 62421621 + Missense_Mutation SNP C C T TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 g.chr20:62421621C>T c.490G>A c.(490-492)Ggg>Agg p.G164R READ 20 62378349 62378349 + Silent SNP C C T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr20:62378349C>T c.1704G>A c.(1702-1704)gaG>gaA p.E568E READ 20 62378364 62378364 + Silent SNP C C T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr20:62378364C>T c.1689G>A c.(1687-1689)gcG>gcA p.A563A READ 20 62422078 62422078 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:62422078C>T c.33G>A c.(31-33)acG>acA p.T11T READ 20 62422100 62422100 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:62422100C>T c.11G>A c.(10-12)cGa>cAa p.R4Q SARC 20 62384159 62384159 + Silent SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 g.chr20:62384159C>T c.1278G>A c.(1276-1278)tcG>tcA p.S426S SARC 20 62421656 62421656 + Missense_Mutation SNP C C T TCGA-IE-A4EJ-01A-11D-A24N-09 TCGA-IE-A4EJ-10A-01D-A24N-09 g.chr20:62421656C>T c.455G>A c.(454-456)aGc>aAc p.S152N SKCM 20 62378355 62378355 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr20:62378355C>T c.1698G>A c.(1696-1698)aaG>aaA p.K566K SKCM 20 62378417 62378417 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr20:62378417C>T c.1636G>A c.(1636-1638)Gag>Aag p.E546K SKCM 20 62378480 62378480 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr20:62378480C>T c.1573G>A c.(1573-1575)Gag>Aag p.E525K SKCM 20 62384102 62384102 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr20:62384102G>A c.1335C>T c.(1333-1335)ccC>ccT p.P445P SKCM 20 62407078 62407078 + Missense_Mutation SNP C C T TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr20:62407078C>T c.1175G>A c.(1174-1176)gGc>gAc p.G392D SKCM 20 62407158 62407158 + Silent SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr20:62407158G>C c.1095C>G c.(1093-1095)acC>acG p.T365T SKCM 20 62407230 62407230 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr20:62407230G>A c.1023C>T c.(1021-1023)ctC>ctT p.L341L SKCM 20 62407280 62407280 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:62407280C>T c.973G>A c.(973-975)Gac>Aac p.D325N SKCM 20 62421195 62421195 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr20:62421195G>A c.916C>T c.(916-918)Ccg>Tcg p.P306S SKCM 20 62421228 62421228 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr20:62421228G>A c.883C>T c.(883-885)Ccg>Tcg p.P295S SKCM 20 62421280 62421280 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 g.chr20:62421280C>T c.831G>A c.(829-831)gaG>gaA p.E277E SKCM 20 62421379 62421379 + Silent SNP A A C TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr20:62421379A>C c.732T>G c.(730-732)ccT>ccG p.P244P SKCM 20 62421446 62421446 + Missense_Mutation SNP C C G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr20:62421446C>G c.665G>C c.(664-666)gGc>gCc p.G222A SKCM 20 62421499 62421499 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr20:62421499C>T c.612G>A c.(610-612)aaG>aaA p.K204K SKCM 20 62421503 62421503 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr20:62421503G>A c.608C>T c.(607-609)cCc>cTc p.P203L SKCM 20 62421760 62421760 + Silent SNP G G A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr20:62421760G>A c.351C>T c.(349-351)atC>atT p.I117I SKCM 20 62421988 62421988 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr20:62421988G>A c.123C>T c.(121-123)gtC>gtT p.V41V SKCM 20 62421999 62421999 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr20:62421999C>T c.112G>A c.(112-114)Gag>Aag p.E38K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 20 62384095 62384095 single base substitution A G missense_variant C448R 1342T>C BLCA-CN 20 62421908 62421908 single base substitution T A missense_variant E68V 203A>T BLCA-CN 20 62421908 62421908 single base substitution T A upstream_gene_variant BLCA-US 20 62421337 62421337 single base substitution C T synonymous_variant Q258Q 774G>A BLCA-US 20 62421337 62421337 single base substitution C T upstream_gene_variant BLCA-US 20 62421402 62421402 single base substitution G A stop_gained Q237* 709C>T BLCA-US 20 62421402 62421402 single base substitution G A upstream_gene_variant BLCA-US 20 62421703 62421703 single base substitution G A synonymous_variant D136D 408C>T BLCA-US 20 62421703 62421703 single base substitution G A upstream_gene_variant BLCA-US 20 62421844 62421844 single base substitution G C missense_variant F89L 267C>G BLCA-US 20 62421844 62421844 single base substitution G C upstream_gene_variant BOCA-FR 20 62398712 62398712 single base substitution G A intron_variant BRCA-EU 20 62370341 62370341 single base substitution C T downstream_gene_variant BRCA-EU 20 62370723 62370723 single base substitution C A downstream_gene_variant BRCA-EU 20 62371721 62371721 single base substitution C G downstream_gene_variant BRCA-EU 20 62372235 62372235 single base substitution T C downstream_gene_variant BRCA-EU 20 62372486 62372486 single base substitution C A downstream_gene_variant BRCA-EU 20 62374822 62374822 single base substitution C G downstream_gene_variant BRCA-EU 20 62374948 62374948 single base substitution G A downstream_gene_variant BRCA-EU 20 62375358 62375358 single base substitution G A 3_prime_UTR_variant BRCA-EU 20 62375358 62375358 single base substitution G A downstream_gene_variant BRCA-EU 20 62375919 62375919 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 20 62376605 62376605 single base substitution G C 3_prime_UTR_variant BRCA-EU 20 62379106 62379106 single base substitution C A intron_variant BRCA-EU 20 62379314 62379314 single base substitution C G intron_variant BRCA-EU 20 62379831 62379831 single base substitution C T intron_variant BRCA-EU 20 62380731 62380731 single base substitution C A intron_variant BRCA-EU 20 62382254 62382254 single base substitution C G intron_variant BRCA-EU 20 62382621 62382621 single base substitution G A intron_variant BRCA-EU 20 62383617 62383617 single base substitution G A intron_variant BRCA-EU 20 62384313 62384313 single base substitution G T intron_variant BRCA-EU 20 62384531 62384531 single base substitution C T intron_variant BRCA-EU 20 62385811 62385811 deletion of <=200bp T - intron_variant BRCA-EU 20 62386504 62386504 single base substitution C T intron_variant BRCA-EU 20 62388393 62388393 single base substitution T A intron_variant BRCA-EU 20 62389672 62389672 single base substitution G A intron_variant BRCA-EU 20 62390167 62390169 deletion of <=200bp CTC - intron_variant BRCA-EU 20 62390201 62390201 single base substitution C T intron_variant BRCA-EU 20 62390491 62390491 single base substitution C G intron_variant BRCA-EU 20 62391976 62391976 single base substitution A T intron_variant BRCA-EU 20 62392676 62392676 single base substitution C G intron_variant BRCA-EU 20 62392829 62392829 single base substitution C G intron_variant BRCA-EU 20 62393848 62393848 single base substitution T C intron_variant BRCA-EU 20 62395088 62395088 single base substitution T C intron_variant BRCA-EU 20 62395564 62395564 single base substitution T C intron_variant BRCA-EU 20 62396979 62396979 single base substitution C T intron_variant BRCA-EU 20 62397910 62397910 single base substitution T C intron_variant BRCA-EU 20 62398587 62398587 single base substitution G A intron_variant BRCA-EU 20 62400001 62400001 deletion of <=200bp T - intron_variant BRCA-EU 20 62400854 62400854 single base substitution C T intron_variant BRCA-EU 20 62401564 62401564 single base substitution G A intron_variant BRCA-EU 20 62402932 62402932 single base substitution C T downstream_gene_variant BRCA-EU 20 62402932 62402932 single base substitution C T intron_variant BRCA-EU 20 62403598 62403598 single base substitution C T downstream_gene_variant BRCA-EU 20 62403598 62403598 single base substitution C T intron_variant BRCA-EU 20 62403996 62403996 single base substitution C T downstream_gene_variant BRCA-EU 20 62403996 62403996 single base substitution C T intron_variant BRCA-EU 20 62404308 62404308 single base substitution G A downstream_gene_variant BRCA-EU 20 62404308 62404308 single base substitution G A intron_variant BRCA-EU 20 62404660 62404660 single base substitution C T downstream_gene_variant BRCA-EU 20 62404660 62404660 single base substitution C T intron_variant BRCA-EU 20 62405287 62405287 single base substitution G C downstream_gene_variant BRCA-EU 20 62405287 62405287 single base substitution G C intron_variant BRCA-EU 20 62408590 62408590 single base substitution A C intron_variant BRCA-EU 20 62408590 62408590 single base substitution A C upstream_gene_variant BRCA-EU 20 62408764 62408764 single base substitution G C intron_variant BRCA-EU 20 62408764 62408764 single base substitution G C upstream_gene_variant BRCA-EU 20 62408843 62408843 single base substitution G C intron_variant BRCA-EU 20 62408843 62408843 single base substitution G C upstream_gene_variant BRCA-EU 20 62411568 62411568 single base substitution G A intron_variant BRCA-EU 20 62411568 62411568 single base substitution G A upstream_gene_variant BRCA-EU 20 62412155 62412155 deletion of <=200bp A - intron_variant BRCA-EU 20 62412155 62412155 deletion of <=200bp A - upstream_gene_variant BRCA-EU 20 62412627 62412627 single base substitution G T intron_variant BRCA-EU 20 62415013 62415013 single base substitution C G downstream_gene_variant BRCA-EU 20 62415013 62415013 single base substitution C G intron_variant BRCA-EU 20 62415178 62415178 single base substitution A G downstream_gene_variant BRCA-EU 20 62415178 62415178 single base substitution A G intron_variant BRCA-EU 20 62415975 62415975 single base substitution G A downstream_gene_variant BRCA-EU 20 62415975 62415975 single base substitution G A intron_variant BRCA-EU 20 62418909 62418909 single base substitution C T downstream_gene_variant BRCA-EU 20 62418909 62418909 single base substitution C T intron_variant BRCA-EU 20 62421350 62421350 single base substitution G A missense_variant S254F 761C>T BRCA-EU 20 62421350 62421350 single base substitution G A upstream_gene_variant BRCA-EU 20 62421943 62421943 single base substitution G C missense_variant F56L 168C>G BRCA-EU 20 62421943 62421943 single base substitution G C upstream_gene_variant BRCA-EU 20 62422533 62422533 single base substitution G C intron_variant BRCA-EU 20 62422533 62422533 single base substitution G C upstream_gene_variant BRCA-EU 20 62422605 62422605 single base substitution C T intron_variant BRCA-EU 20 62422605 62422605 single base substitution C T upstream_gene_variant BRCA-EU 20 62422937 62422937 single base substitution C T intron_variant BRCA-EU 20 62422937 62422937 single base substitution C T upstream_gene_variant BRCA-EU 20 62423485 62423485 single base substitution C G intron_variant BRCA-EU 20 62423485 62423485 single base substitution C G upstream_gene_variant BRCA-EU 20 62423724 62423724 single base substitution A T intron_variant BRCA-EU 20 62423724 62423724 single base substitution A T upstream_gene_variant BRCA-EU 20 62424810 62424810 deletion of <=200bp G - intron_variant BRCA-EU 20 62424810 62424810 deletion of <=200bp G - upstream_gene_variant BRCA-EU 20 62425661 62425661 single base substitution C T intron_variant BRCA-EU 20 62425661 62425661 single base substitution C T upstream_gene_variant BRCA-EU 20 62426486 62426486 single base substitution C A intron_variant BRCA-EU 20 62426486 62426486 single base substitution C A upstream_gene_variant BRCA-EU 20 62428344 62428344 single base substitution G T intron_variant BRCA-EU 20 62428690 62428690 single base substitution C A intron_variant BRCA-EU 20 62430026 62430026 single base substitution T A intron_variant BRCA-EU 20 62430086 62430161 deletion of <=200bp ACTAAGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGCAGAGGATGCAGTGAGCCAAGATGGTGCCACTGC - intron_variant BRCA-EU 20 62432285 62432285 single base substitution A C intron_variant BRCA-EU 20 62433866 62433866 single base substitution C T intron_variant BRCA-EU 20 62433892 62433892 single base substitution G C intron_variant BRCA-EU 20 62434209 62434209 single base substitution C G intron_variant BRCA-EU 20 62434460 62434460 single base substitution C A intron_variant BRCA-EU 20 62435130 62435130 single base substitution G A intron_variant BRCA-EU 20 62435901 62435901 single base substitution G A intron_variant BRCA-EU 20 62436155 62436155 single base substitution G A intron_variant BRCA-EU 20 62436574 62436574 single base substitution C T intron_variant BRCA-EU 20 62437148 62437148 single base substitution G A intron_variant BRCA-EU 20 62437882 62437882 deletion of <=200bp A - intron_variant BRCA-EU 20 62437900 62437900 single base substitution A T intron_variant BRCA-EU 20 62440173 62440173 deletion of <=200bp A - intron_variant BRCA-EU 20 62440240 62440240 single base substitution G A intron_variant BRCA-EU 20 62441410 62441410 single base substitution G C intron_variant BRCA-EU 20 62442034 62442034 single base substitution G A intron_variant BRCA-EU 20 62443090 62443090 single base substitution C A intron_variant BRCA-EU 20 62443632 62443632 single base substitution G A intron_variant BRCA-EU 20 62443714 62443714 single base substitution T C intron_variant BRCA-EU 20 62443957 62443957 single base substitution G A intron_variant BRCA-EU 20 62444799 62444799 single base substitution T A intron_variant BRCA-EU 20 62445796 62445796 single base substitution C A intron_variant BRCA-EU 20 62445926 62445926 single base substitution G T intron_variant BRCA-EU 20 62448070 62448070 single base substitution A T intron_variant BRCA-EU 20 62448417 62448417 single base substitution C A intron_variant BRCA-EU 20 62449440 62449440 single base substitution C T intron_variant BRCA-EU 20 62449467 62449467 single base substitution C A intron_variant BRCA-EU 20 62449756 62449756 single base substitution C T intron_variant BRCA-EU 20 62449780 62449780 single base substitution C T intron_variant BRCA-EU 20 62450068 62450068 single base substitution G A intron_variant BRCA-EU 20 62450318 62450318 insertion of <=200bp - GAGTTCAAGACCGCCT intron_variant BRCA-EU 20 62451254 62451254 single base substitution C G intron_variant BRCA-EU 20 62451665 62451665 single base substitution G C intron_variant BRCA-EU 20 62451802 62451802 single base substitution T G intron_variant BRCA-EU 20 62452508 62452508 single base substitution T C intron_variant BRCA-EU 20 62453416 62453416 single base substitution G A intron_variant BRCA-EU 20 62454704 62454704 single base substitution A G intron_variant BRCA-EU 20 62454723 62454723 single base substitution C T intron_variant BRCA-EU 20 62455037 62455037 single base substitution C T intron_variant BRCA-EU 20 62455614 62455614 single base substitution T G intron_variant BRCA-EU 20 62456632 62456632 single base substitution T C intron_variant BRCA-EU 20 62456869 62456869 single base substitution T C intron_variant BRCA-EU 20 62457423 62457423 single base substitution G T intron_variant BRCA-EU 20 62459783 62459783 single base substitution C T intron_variant BRCA-EU 20 62460027 62460027 single base substitution C A intron_variant BRCA-EU 20 62460034 62460034 single base substitution G A intron_variant BRCA-EU 20 62460514 62460514 single base substitution G A intron_variant BRCA-EU 20 62461429 62461429 single base substitution G A intron_variant BRCA-EU 20 62465082 62465082 single base substitution G C upstream_gene_variant BRCA-EU 20 62465128 62465128 deletion of <=200bp C - upstream_gene_variant BRCA-EU 20 62466804 62466804 single base substitution T C upstream_gene_variant BRCA-FR 20 62379314 62379314 single base substitution C G intron_variant BRCA-FR 20 62379479 62379479 single base substitution C G intron_variant BRCA-FR 20 62390491 62390491 single base substitution C G intron_variant BRCA-FR 20 62392829 62392829 single base substitution C G intron_variant BRCA-FR 20 62393811 62393811 single base substitution C T intron_variant BRCA-FR 20 62397910 62397910 single base substitution T C intron_variant BRCA-FR 20 62402743 62402743 single base substitution G A downstream_gene_variant BRCA-FR 20 62402743 62402743 single base substitution G A intron_variant BRCA-FR 20 62404660 62404660 single base substitution C T downstream_gene_variant BRCA-FR 20 62404660 62404660 single base substitution C T intron_variant BRCA-FR 20 62415427 62415427 single base substitution G T downstream_gene_variant BRCA-FR 20 62415427 62415427 single base substitution G T intron_variant BRCA-FR 20 62419013 62419013 single base substitution G C downstream_gene_variant BRCA-FR 20 62419013 62419013 single base substitution G C intron_variant BRCA-FR 20 62421744 62421744 single base substitution C T missense_variant D123N 367G>A BRCA-FR 20 62421744 62421744 single base substitution C T upstream_gene_variant BRCA-FR 20 62421943 62421943 single base substitution G C missense_variant F56L 168C>G BRCA-FR 20 62421943 62421943 single base substitution G C upstream_gene_variant BRCA-FR 20 62422383 62422383 single base substitution C T intron_variant BRCA-FR 20 62422383 62422383 single base substitution C T upstream_gene_variant BRCA-FR 20 62424655 62424655 single base substitution C T intron_variant BRCA-FR 20 62424655 62424655 single base substitution C T upstream_gene_variant BRCA-FR 20 62428235 62428235 single base substitution C T intron_variant BRCA-FR 20 62428344 62428344 single base substitution G T intron_variant BRCA-FR 20 62450646 62450646 single base substitution C T intron_variant BRCA-FR 20 62451802 62451802 single base substitution T G intron_variant BRCA-FR 20 62454704 62454704 single base substitution A G intron_variant BRCA-FR 20 62460514 62460514 single base substitution G A intron_variant BRCA-FR 20 62461429 62461429 single base substitution G A intron_variant BRCA-FR 20 62464268 62464268 single base substitution A G upstream_gene_variant BRCA-UK 20 62427556 62427556 single base substitution C G intron_variant BRCA-US 20 62373244 62373244 single base substitution G A downstream_gene_variant BRCA-US 20 62407185 62407185 single base substitution C T exon_variant BRCA-US 20 62407185 62407185 single base substitution C T synonymous_variant E356E 1068G>A BRCA-US 20 62421190 62421190 single base substitution G A exon_variant BRCA-US 20 62421190 62421190 single base substitution G A synonymous_variant F307F 921C>T BRCA-US 20 62421337 62421337 single base substitution C G missense_variant Q258H 774G>C BRCA-US 20 62421337 62421337 single base substitution C G upstream_gene_variant BRCA-US 20 62421927 62421927 insertion of <=200bp - T frameshift_variant Q62Q? BRCA-US 20 62421927 62421927 insertion of <=200bp - T upstream_gene_variant BTCA-JP 20 62372932 62372932 single base substitution G T downstream_gene_variant BTCA-JP 20 62373423 62373423 single base substitution C T downstream_gene_variant BTCA-JP 20 62374389 62374389 single base substitution C T downstream_gene_variant BTCA-JP 20 62421273 62421273 single base substitution G A missense_variant R280W 838C>T BTCA-JP 20 62421273 62421273 single base substitution G A upstream_gene_variant BTCA-JP 20 62421541 62421541 single base substitution G A synonymous_variant H190H 570C>T BTCA-JP 20 62421541 62421541 single base substitution G A upstream_gene_variant BTCA-JP 20 62421673 62421673 single base substitution G A synonymous_variant I146I 438C>T BTCA-JP 20 62421673 62421673 single base substitution G A upstream_gene_variant BTCA-JP 20 62421893 62421893 single base substitution G A missense_variant T73M 218C>T BTCA-JP 20 62421893 62421893 single base substitution G A upstream_gene_variant BTCA-JP 20 62421943 62421943 single base substitution G A synonymous_variant F56F 168C>T BTCA-JP 20 62421943 62421943 single base substitution G A upstream_gene_variant CESC-US 20 62370085 62370085 single base substitution C G downstream_gene_variant CESC-US 20 62374737 62374737 single base substitution T G downstream_gene_variant CESC-US 20 62378450 62378450 single base substitution G C missense_variant L535V 1603C>G CESC-US 20 62421190 62421190 single base substitution G A exon_variant CESC-US 20 62421190 62421190 single base substitution G A synonymous_variant F307F 921C>T CESC-US 20 62421495 62421495 single base substitution C T missense_variant D206N 616G>A CESC-US 20 62421495 62421495 single base substitution C T upstream_gene_variant CLLE-ES 20 62383939 62383939 single base substitution G A intron_variant CLLE-ES 20 62389531 62389531 single base substitution T G intron_variant CLLE-ES 20 62414447 62414447 single base substitution C T downstream_gene_variant CLLE-ES 20 62414447 62414447 single base substitution C T intron_variant CLLE-ES 20 62419412 62419412 single base substitution C A exon_variant CLLE-ES 20 62419412 62419412 single base substitution C A intron_variant CLLE-ES 20 62431239 62431239 single base substitution G A intron_variant CLLE-ES 20 62442276 62442276 single base substitution C T intron_variant COAD-US 20 62370082 62370082 single base substitution G A downstream_gene_variant COAD-US 20 62373707 62373707 single base substitution G T downstream_gene_variant COAD-US 20 62373851 62373851 single base substitution G A downstream_gene_variant COAD-US 20 62373895 62373895 single base substitution C T downstream_gene_variant COAD-US 20 62378349 62378349 single base substitution C T synonymous_variant E568E 1704G>A COAD-US 20 62378364 62378364 single base substitution C T synonymous_variant A563A 1689G>A COAD-US 20 62378418 62378418 single base substitution C T synonymous_variant A545A 1635G>A COAD-US 20 62378531 62378531 single base substitution C A missense_variant G508C 1522G>T COAD-US 20 62407097 62407097 single base substitution C T exon_variant COAD-US 20 62407097 62407097 single base substitution C T missense_variant D386N 1156G>A COAD-US 20 62407140 62407140 single base substitution G A exon_variant COAD-US 20 62407140 62407140 single base substitution G A synonymous_variant R371R 1113C>T COAD-US 20 62407196 62407196 single base substitution G T exon_variant COAD-US 20 62407196 62407196 single base substitution G T missense_variant L353I 1057C>A COAD-US 20 62421202 62421202 single base substitution C T exon_variant COAD-US 20 62421202 62421202 single base substitution C T synonymous_variant S303S 909G>A COAD-US 20 62421306 62421306 single base substitution G A stop_gained R269* 805C>T COAD-US 20 62421306 62421306 single base substitution G A upstream_gene_variant COAD-US 20 62421432 62421432 single base substitution G A missense_variant R227C 679C>T COAD-US 20 62421432 62421432 single base substitution G A upstream_gene_variant COAD-US 20 62421523 62421523 single base substitution G A synonymous_variant Y196Y 588C>T COAD-US 20 62421523 62421523 single base substitution G A upstream_gene_variant COAD-US 20 62421673 62421673 single base substitution G A synonymous_variant I146I 438C>T COAD-US 20 62421673 62421673 single base substitution G A upstream_gene_variant COAD-US 20 62421840 62421840 single base substitution A G missense_variant Y91H 271T>C COAD-US 20 62421840 62421840 single base substitution A G upstream_gene_variant COCA-CN 20 62370349 62370349 single base substitution T C downstream_gene_variant COCA-CN 20 62373707 62373707 single base substitution G T downstream_gene_variant COCA-CN 20 62374483 62374483 single base substitution C G downstream_gene_variant COCA-CN 20 62378695 62378695 single base substitution T G intron_variant COCA-CN 20 62384174 62384174 single base substitution C T synonymous_variant P421P 1263G>A COCA-CN 20 62384268 62384268 single base substitution C T intron_variant COCA-CN 20 62389335 62389335 single base substitution C T intron_variant COCA-CN 20 62407312 62407312 single base substitution G A exon_variant COCA-CN 20 62407312 62407312 single base substitution G A missense_variant A314V 941C>T COCA-CN 20 62416651 62416651 single base substitution C T downstream_gene_variant COCA-CN 20 62416651 62416651 single base substitution C T intron_variant COCA-CN 20 62421892 62421892 single base substitution C T synonymous_variant T73T 219G>A COCA-CN 20 62421892 62421892 single base substitution C T upstream_gene_variant COCA-CN 20 62421911 62421911 single base substitution G A missense_variant S67L 200C>T COCA-CN 20 62421911 62421911 single base substitution G A upstream_gene_variant COCA-CN 20 62421988 62421988 single base substitution G T synonymous_variant V41V 123C>A COCA-CN 20 62421988 62421988 single base substitution G T upstream_gene_variant COCA-CN 20 62422008 62422008 single base substitution C T missense_variant V35M 103G>A COCA-CN 20 62422008 62422008 single base substitution C T upstream_gene_variant COCA-CN 20 62425094 62425094 single base substitution T C intron_variant COCA-CN 20 62425094 62425094 single base substitution T C upstream_gene_variant COCA-CN 20 62425099 62425099 single base substitution T C intron_variant COCA-CN 20 62425099 62425099 single base substitution T C upstream_gene_variant COCA-CN 20 62439336 62439336 single base substitution C A intron_variant EOPC-DE 20 62384115 62384115 single base substitution G A missense_variant T441M 1322C>T EOPC-DE 20 62399733 62399733 single base substitution C A intron_variant EOPC-DE 20 62400176 62400176 single base substitution C T intron_variant EOPC-DE 20 62404989 62404989 single base substitution G C downstream_gene_variant EOPC-DE 20 62404989 62404989 single base substitution G C intron_variant EOPC-DE 20 62421777 62421777 single base substitution G T missense_variant L112M 334C>A EOPC-DE 20 62421777 62421777 single base substitution G T upstream_gene_variant EOPC-DE 20 62444805 62444805 single base substitution A T intron_variant EOPC-DE 20 62446622 62446622 single base substitution C A intron_variant ESAD-UK 20 62373160 62373160 single base substitution C A downstream_gene_variant ESAD-UK 20 62375923 62375923 single base substitution A T 3_prime_UTR_variant ESAD-UK 20 62376017 62376017 single base substitution C T 3_prime_UTR_variant ESAD-UK 20 62378480 62378480 single base substitution C G missense_variant E525Q 1573G>C ESAD-UK 20 62382798 62382798 single base substitution C A intron_variant ESAD-UK 20 62383293 62383293 single base substitution C T intron_variant ESAD-UK 20 62385568 62385568 single base substitution C T intron_variant ESAD-UK 20 62385810 62385810 single base substitution A T intron_variant ESAD-UK 20 62386488 62386488 single base substitution G C intron_variant ESAD-UK 20 62390003 62390003 single base substitution G A intron_variant ESAD-UK 20 62390750 62390750 single base substitution T G intron_variant ESAD-UK 20 62391579 62391579 single base substitution T C intron_variant ESAD-UK 20 62392303 62392303 single base substitution A G intron_variant ESAD-UK 20 62393043 62393043 single base substitution G T intron_variant ESAD-UK 20 62394090 62394090 single base substitution C G intron_variant ESAD-UK 20 62395001 62395001 single base substitution G A intron_variant ESAD-UK 20 62395149 62395150 deletion of <=200bp AG - intron_variant ESAD-UK 20 62395251 62395251 single base substitution G T intron_variant ESAD-UK 20 62396600 62396600 single base substitution C T intron_variant ESAD-UK 20 62398481 62398481 single base substitution G A intron_variant ESAD-UK 20 62400470 62400470 single base substitution C T intron_variant ESAD-UK 20 62400703 62400703 single base substitution C A intron_variant ESAD-UK 20 62400999 62400999 single base substitution A T intron_variant ESAD-UK 20 62401458 62401458 single base substitution C T intron_variant ESAD-UK 20 62404340 62404340 single base substitution G A downstream_gene_variant ESAD-UK 20 62404340 62404340 single base substitution G A intron_variant ESAD-UK 20 62405490 62405490 single base substitution C T downstream_gene_variant ESAD-UK 20 62405490 62405490 single base substitution C T intron_variant ESAD-UK 20 62406054 62406054 single base substitution T G downstream_gene_variant ESAD-UK 20 62406054 62406054 single base substitution T G intron_variant ESAD-UK 20 62407179 62407179 single base substitution G A exon_variant ESAD-UK 20 62407179 62407179 single base substitution G A synonymous_variant D358D 1074C>T ESAD-UK 20 62407281 62407281 single base substitution G A exon_variant ESAD-UK 20 62407281 62407281 single base substitution G A synonymous_variant S324S 972C>T ESAD-UK 20 62407928 62407928 single base substitution G A intron_variant ESAD-UK 20 62407928 62407928 single base substitution G A upstream_gene_variant ESAD-UK 20 62409187 62409187 single base substitution C G intron_variant ESAD-UK 20 62409187 62409187 single base substitution C G upstream_gene_variant ESAD-UK 20 62409867 62409867 single base substitution C A intron_variant ESAD-UK 20 62409867 62409867 single base substitution C A upstream_gene_variant ESAD-UK 20 62410918 62410918 single base substitution C T intron_variant ESAD-UK 20 62410918 62410918 single base substitution C T upstream_gene_variant ESAD-UK 20 62411339 62411339 single base substitution G A intron_variant ESAD-UK 20 62411339 62411339 single base substitution G A upstream_gene_variant ESAD-UK 20 62411344 62411344 single base substitution C T intron_variant ESAD-UK 20 62411344 62411344 single base substitution C T upstream_gene_variant ESAD-UK 20 62411826 62411826 single base substitution C T intron_variant ESAD-UK 20 62411826 62411826 single base substitution C T upstream_gene_variant ESAD-UK 20 62412560 62412560 single base substitution G C intron_variant ESAD-UK 20 62412763 62412763 single base substitution C T intron_variant ESAD-UK 20 62413276 62413276 single base substitution A C intron_variant ESAD-UK 20 62414041 62414041 single base substitution A C intron_variant ESAD-UK 20 62414082 62414082 single base substitution T A downstream_gene_variant ESAD-UK 20 62414082 62414082 single base substitution T A intron_variant ESAD-UK 20 62414483 62414483 insertion of <=200bp - A downstream_gene_variant ESAD-UK 20 62414483 62414483 insertion of <=200bp - A intron_variant ESAD-UK 20 62414836 62414836 single base substitution T A downstream_gene_variant ESAD-UK 20 62414836 62414836 single base substitution T A intron_variant ESAD-UK 20 62414945 62414945 single base substitution G T downstream_gene_variant ESAD-UK 20 62414945 62414945 single base substitution G T intron_variant ESAD-UK 20 62416254 62416254 single base substitution G T downstream_gene_variant ESAD-UK 20 62416254 62416254 single base substitution G T intron_variant ESAD-UK 20 62416770 62416770 single base substitution C T downstream_gene_variant ESAD-UK 20 62416770 62416770 single base substitution C T intron_variant ESAD-UK 20 62417477 62417477 single base substitution C A downstream_gene_variant ESAD-UK 20 62417477 62417477 single base substitution C A intron_variant ESAD-UK 20 62418967 62418967 single base substitution C T downstream_gene_variant ESAD-UK 20 62418967 62418967 single base substitution C T intron_variant ESAD-UK 20 62419038 62419038 single base substitution G A downstream_gene_variant ESAD-UK 20 62419038 62419038 single base substitution G A intron_variant ESAD-UK 20 62419173 62419173 single base substitution G A exon_variant ESAD-UK 20 62419173 62419173 single base substitution G A intron_variant ESAD-UK 20 62420867 62420867 single base substitution C A intron_variant ESAD-UK 20 62420922 62420922 single base substitution G A intron_variant ESAD-UK 20 62421496 62421496 single base substitution G A synonymous_variant A205A 615C>T ESAD-UK 20 62421496 62421496 single base substitution G A upstream_gene_variant ESAD-UK 20 62421766 62421766 single base substitution C T synonymous_variant T115T 345G>A ESAD-UK 20 62421766 62421766 single base substitution C T upstream_gene_variant ESAD-UK 20 62422008 62422008 single base substitution C T missense_variant V35M 103G>A ESAD-UK 20 62422008 62422008 single base substitution C T upstream_gene_variant ESAD-UK 20 62423398 62423398 single base substitution T C intron_variant ESAD-UK 20 62423398 62423398 single base substitution T C upstream_gene_variant ESAD-UK 20 62423892 62423892 single base substitution C T intron_variant ESAD-UK 20 62423892 62423892 single base substitution C T upstream_gene_variant ESAD-UK 20 62424452 62424452 single base substitution C T intron_variant ESAD-UK 20 62424452 62424452 single base substitution C T upstream_gene_variant ESAD-UK 20 62426406 62426406 single base substitution C T intron_variant ESAD-UK 20 62426406 62426406 single base substitution C T upstream_gene_variant ESAD-UK 20 62426651 62426651 single base substitution C T intron_variant ESAD-UK 20 62426651 62426651 single base substitution C T upstream_gene_variant ESAD-UK 20 62426879 62426879 single base substitution C T intron_variant ESAD-UK 20 62426879 62426879 single base substitution C T upstream_gene_variant ESAD-UK 20 62427160 62427160 single base substitution G T intron_variant ESAD-UK 20 62427163 62427163 single base substitution G A intron_variant ESAD-UK 20 62427205 62427205 single base substitution C A intron_variant ESAD-UK 20 62428179 62428179 insertion of <=200bp - A intron_variant ESAD-UK 20 62428197 62428197 single base substitution A T intron_variant ESAD-UK 20 62432102 62432102 single base substitution C G intron_variant ESAD-UK 20 62432231 62432231 single base substitution C T intron_variant ESAD-UK 20 62435136 62435136 single base substitution C T intron_variant ESAD-UK 20 62435226 62435226 single base substitution A T intron_variant ESAD-UK 20 62435415 62435415 single base substitution C T intron_variant ESAD-UK 20 62435974 62435974 single base substitution C T intron_variant ESAD-UK 20 62436768 62436768 single base substitution C T intron_variant ESAD-UK 20 62437091 62437091 single base substitution C A intron_variant ESAD-UK 20 62437287 62437287 single base substitution G A intron_variant ESAD-UK 20 62437471 62437471 single base substitution C A intron_variant ESAD-UK 20 62439063 62439063 single base substitution T C intron_variant ESAD-UK 20 62439372 62439372 single base substitution C A intron_variant ESAD-UK 20 62439549 62439549 single base substitution G A intron_variant ESAD-UK 20 62443027 62443027 single base substitution G A intron_variant ESAD-UK 20 62443481 62443481 insertion of <=200bp - A intron_variant ESAD-UK 20 62443719 62443719 single base substitution G T intron_variant ESAD-UK 20 62443865 62443865 single base substitution C T intron_variant ESAD-UK 20 62445756 62445756 single base substitution A T intron_variant ESAD-UK 20 62447519 62447519 single base substitution G A intron_variant ESAD-UK 20 62448237 62448237 single base substitution C A intron_variant ESAD-UK 20 62449321 62449321 single base substitution G A intron_variant ESAD-UK 20 62451798 62451798 insertion of <=200bp - A intron_variant ESAD-UK 20 62451934 62451934 single base substitution C T intron_variant ESAD-UK 20 62452816 62452816 single base substitution G A intron_variant ESAD-UK 20 62452860 62452860 single base substitution T A intron_variant ESAD-UK 20 62452949 62452949 single base substitution C T intron_variant ESAD-UK 20 62453374 62453374 single base substitution G T intron_variant ESAD-UK 20 62453415 62453415 single base substitution C T intron_variant ESAD-UK 20 62453500 62453500 single base substitution C T intron_variant ESAD-UK 20 62454090 62454090 single base substitution G T intron_variant ESAD-UK 20 62454538 62454538 single base substitution A C intron_variant ESAD-UK 20 62455258 62455258 single base substitution C G intron_variant ESAD-UK 20 62456611 62456611 single base substitution G A intron_variant ESAD-UK 20 62457550 62457550 single base substitution C T intron_variant ESAD-UK 20 62461297 62461297 single base substitution C T intron_variant ESAD-UK 20 62464950 62464950 single base substitution G T upstream_gene_variant GBM-US 20 62421878 62421878 single base substitution A C missense_variant V78G 233T>G GBM-US 20 62421878 62421878 single base substitution A C upstream_gene_variant KIRC-US 20 62370185 62370185 single base substitution A G downstream_gene_variant KIRC-US 20 62373331 62373331 single base substitution T A downstream_gene_variant KIRC-US 20 62407316 62407316 single base substitution C T splice_acceptor_variant KIRC-US 20 62407316 62407316 single base substitution C T upstream_gene_variant KIRP-US 20 62374341 62374341 single base substitution T C downstream_gene_variant KIRP-US 20 62378613 62378613 single base substitution G T missense_variant S480R 1440C>A KIRP-US 20 62421455 62421455 single base substitution C G missense_variant G219A 656G>C KIRP-US 20 62421455 62421455 single base substitution C G upstream_gene_variant LAML-KR 20 62378917 62378917 single base substitution C T intron_variant LAML-KR 20 62421622 62421622 single base substitution A G synonymous_variant A163A 489T>C LAML-KR 20 62421622 62421622 single base substitution A G upstream_gene_variant LAML-KR 20 62433934 62433934 single base substitution A G intron_variant LAML-KR 20 62433952 62433952 single base substitution A G intron_variant LAML-KR 20 62433965 62433965 single base substitution A G intron_variant LAML-KR 20 62434163 62434163 single base substitution G A intron_variant LAML-KR 20 62442521 62442521 single base substitution A G intron_variant LAML-KR 20 62443793 62443793 single base substitution G A intron_variant LAML-KR 20 62456031 62456031 single base substitution A G intron_variant LAML-KR 20 62456103 62456103 single base substitution T C intron_variant LAML-KR 20 62467243 62467243 single base substitution C T upstream_gene_variant LICA-CN 20 62421937 62421937 single base substitution C A synonymous_variant T58T 174G>T LICA-CN 20 62421937 62421937 single base substitution C A upstream_gene_variant LICA-FR 20 62373747 62373747 single base substitution G A downstream_gene_variant LICA-FR 20 62374054 62374054 single base substitution C A downstream_gene_variant LICA-FR 20 62375303 62375303 deletion of <=200bp A - 3_prime_UTR_variant LICA-FR 20 62375303 62375303 deletion of <=200bp A - downstream_gene_variant LICA-FR 20 62378405 62378405 single base substitution C T missense_variant E550K 1648G>A LICA-FR 20 62378440 62378440 single base substitution G A missense_variant P538L 1613C>T LICA-FR 20 62388878 62388878 single base substitution C T intron_variant LICA-FR 20 62393135 62393135 insertion of <=200bp - AA intron_variant LICA-FR 20 62407152 62407152 single base substitution C A exon_variant LICA-FR 20 62407152 62407152 single base substitution C A synonymous_variant V367V 1101G>T LICA-FR 20 62413046 62413046 single base substitution G T intron_variant LICA-FR 20 62415881 62415881 single base substitution T A downstream_gene_variant LICA-FR 20 62415881 62415881 single base substitution T A intron_variant LICA-FR 20 62421936 62421936 single base substitution G A missense_variant L59F 175C>T LICA-FR 20 62421936 62421936 single base substitution G A upstream_gene_variant LICA-FR 20 62439336 62439336 single base substitution C A intron_variant LICA-FR 20 62442365 62442365 single base substitution A C intron_variant LICA-FR 20 62448206 62448206 single base substitution C A intron_variant LICA-FR 20 62449083 62449086 deletion of <=200bp AAGG - intron_variant LICA-FR 20 62464366 62464366 single base substitution C G upstream_gene_variant LIHC-US 20 62373481 62373481 single base substitution A G downstream_gene_variant LIHC-US 20 62373570 62373570 single base substitution C T downstream_gene_variant LIHC-US 20 62373927 62373927 single base substitution G A downstream_gene_variant LINC-JP 20 62371472 62371472 single base substitution C A downstream_gene_variant LINC-JP 20 62375894 62375897 deletion of <=200bp TATT - 3_prime_UTR_variant LINC-JP 20 62383979 62383979 single base substitution G A intron_variant LINC-JP 20 62384070 62384070 single base substitution G A missense_variant T456M 1367C>T LINC-JP 20 62397888 62397888 deletion of <=200bp A - intron_variant LINC-JP 20 62407024 62407024 single base substitution C T intron_variant LINC-JP 20 62407024 62407024 single base substitution C T splice_region_variant LINC-JP 20 62407058 62407058 single base substitution G A exon_variant LINC-JP 20 62407058 62407058 single base substitution G A synonymous_variant L399L 1195C>T LINC-JP 20 62410016 62410016 single base substitution A T intron_variant LINC-JP 20 62410016 62410016 single base substitution A T upstream_gene_variant LINC-JP 20 62421567 62421567 single base substitution C A stop_gained G182* 544G>T LINC-JP 20 62421567 62421567 single base substitution C A upstream_gene_variant LINC-JP 20 62439408 62439408 single base substitution C A intron_variant LIRI-JP 20 62372618 62372618 deletion of <=200bp G - downstream_gene_variant LIRI-JP 20 62372853 62372853 single base substitution T G downstream_gene_variant LIRI-JP 20 62374842 62374842 single base substitution T C downstream_gene_variant LIRI-JP 20 62374997 62374997 single base substitution T C downstream_gene_variant LIRI-JP 20 62375727 62375727 single base substitution G T 3_prime_UTR_variant LIRI-JP 20 62375727 62375727 single base substitution G T downstream_gene_variant LIRI-JP 20 62375769 62375769 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 62375769 62375769 single base substitution A G downstream_gene_variant LIRI-JP 20 62380041 62380041 single base substitution C G intron_variant LIRI-JP 20 62384567 62384567 single base substitution C T intron_variant LIRI-JP 20 62394537 62394537 single base substitution T C intron_variant LIRI-JP 20 62401405 62401405 single base substitution C T intron_variant LIRI-JP 20 62402045 62402051 deletion of <=200bp GCCGGAC - downstream_gene_variant LIRI-JP 20 62402045 62402051 deletion of <=200bp GCCGGAC - intron_variant LIRI-JP 20 62402355 62402355 single base substitution C T downstream_gene_variant LIRI-JP 20 62402355 62402355 single base substitution C T intron_variant LIRI-JP 20 62406909 62406909 single base substitution G A intron_variant LIRI-JP 20 62416123 62416123 single base substitution A T downstream_gene_variant LIRI-JP 20 62416123 62416123 single base substitution A T intron_variant LIRI-JP 20 62417326 62417326 single base substitution G C downstream_gene_variant LIRI-JP 20 62417326 62417326 single base substitution G C intron_variant LIRI-JP 20 62422417 62422417 single base substitution A G intron_variant LIRI-JP 20 62422417 62422417 single base substitution A G upstream_gene_variant LIRI-JP 20 62422424 62422424 single base substitution C A intron_variant LIRI-JP 20 62422424 62422424 single base substitution C A upstream_gene_variant LIRI-JP 20 62434614 62434614 single base substitution T C intron_variant LIRI-JP 20 62434886 62434886 single base substitution A G intron_variant LIRI-JP 20 62437962 62437962 single base substitution G A intron_variant LIRI-JP 20 62439166 62439166 single base substitution G A intron_variant LIRI-JP 20 62439201 62439201 single base substitution G T intron_variant LIRI-JP 20 62442186 62442186 single base substitution A G intron_variant LIRI-JP 20 62453542 62453542 single base substitution C T intron_variant LIRI-JP 20 62453653 62453653 single base substitution G A intron_variant LIRI-JP 20 62453929 62453929 single base substitution G T intron_variant LIRI-JP 20 62455390 62455390 single base substitution T G intron_variant LIRI-JP 20 62463919 62463919 single base substitution G T upstream_gene_variant LIRI-JP 20 62466736 62466736 single base substitution G T upstream_gene_variant LUSC-KR 20 62372304 62372304 single base substitution T C downstream_gene_variant LUSC-KR 20 62374201 62374201 single base substitution A T downstream_gene_variant LUSC-KR 20 62378694 62378694 single base substitution T G intron_variant LUSC-KR 20 62379227 62379227 single base substitution C A intron_variant LUSC-KR 20 62387317 62387317 single base substitution G A intron_variant LUSC-KR 20 62389541 62389541 single base substitution C T intron_variant LUSC-KR 20 62395981 62395981 single base substitution G T intron_variant LUSC-KR 20 62399984 62399984 single base substitution G T intron_variant LUSC-KR 20 62402845 62402845 single base substitution C T downstream_gene_variant LUSC-KR 20 62402845 62402845 single base substitution C T intron_variant LUSC-KR 20 62405997 62405997 single base substitution G A downstream_gene_variant LUSC-KR 20 62405997 62405997 single base substitution G A intron_variant LUSC-KR 20 62406326 62406326 single base substitution G A downstream_gene_variant LUSC-KR 20 62406326 62406326 single base substitution G A intron_variant LUSC-KR 20 62408138 62408138 single base substitution C T intron_variant LUSC-KR 20 62408138 62408138 single base substitution C T upstream_gene_variant LUSC-KR 20 62408220 62408220 single base substitution A G intron_variant LUSC-KR 20 62408220 62408220 single base substitution A G upstream_gene_variant LUSC-KR 20 62422360 62422360 single base substitution C T intron_variant LUSC-KR 20 62422360 62422360 single base substitution C T upstream_gene_variant LUSC-KR 20 62422535 62422535 single base substitution A G intron_variant LUSC-KR 20 62422535 62422535 single base substitution A G upstream_gene_variant LUSC-KR 20 62424536 62424536 single base substitution C A intron_variant LUSC-KR 20 62424536 62424536 single base substitution C A upstream_gene_variant LUSC-KR 20 62428376 62428376 single base substitution A G intron_variant LUSC-KR 20 62433857 62433857 single base substitution G T intron_variant LUSC-KR 20 62434150 62434150 single base substitution G A intron_variant LUSC-KR 20 62434380 62434380 single base substitution G A intron_variant LUSC-KR 20 62435727 62435727 single base substitution G T intron_variant LUSC-KR 20 62437465 62437465 single base substitution A G intron_variant LUSC-KR 20 62437734 62437734 single base substitution C G intron_variant LUSC-KR 20 62439372 62439372 single base substitution C A intron_variant LUSC-KR 20 62439408 62439408 single base substitution C A intron_variant LUSC-KR 20 62448595 62448595 single base substitution C A intron_variant LUSC-KR 20 62450217 62450217 single base substitution T C intron_variant LUSC-KR 20 62451768 62451768 single base substitution C A intron_variant LUSC-KR 20 62453298 62453298 single base substitution G T intron_variant LUSC-KR 20 62455213 62455213 single base substitution G C intron_variant LUSC-KR 20 62460931 62460931 single base substitution C T intron_variant LUSC-KR 20 62463678 62463678 single base substitution C A upstream_gene_variant LUSC-US 20 62373567 62373567 single base substitution C T downstream_gene_variant LUSC-US 20 62378374 62378374 single base substitution G A missense_variant A560V 1679C>T LUSC-US 20 62407098 62407098 single base substitution G A exon_variant LUSC-US 20 62407098 62407098 single base substitution G A synonymous_variant A385A 1155C>T LUSC-US 20 62421182 62421182 single base substitution C T exon_variant LUSC-US 20 62421182 62421182 single base substitution C T missense_variant R310Q 929G>A LUSC-US 20 62421809 62421809 single base substitution T A missense_variant N101I 302A>T LUSC-US 20 62421809 62421809 single base substitution T A upstream_gene_variant LUSC-US 20 62421833 62421833 single base substitution G A missense_variant A93V 278C>T LUSC-US 20 62421833 62421833 single base substitution G A upstream_gene_variant MALY-DE 20 62372021 62372021 single base substitution T C downstream_gene_variant MALY-DE 20 62372577 62372577 single base substitution A C downstream_gene_variant MALY-DE 20 62372676 62372676 single base substitution C A downstream_gene_variant MALY-DE 20 62372956 62372956 single base substitution C T downstream_gene_variant MALY-DE 20 62374372 62374372 single base substitution C A downstream_gene_variant MALY-DE 20 62376227 62376227 single base substitution T C 3_prime_UTR_variant MALY-DE 20 62376227 62376227 single base substitution T C intron_variant MALY-DE 20 62380236 62380236 single base substitution C T intron_variant MALY-DE 20 62390002 62390002 single base substitution C T intron_variant MALY-DE 20 62391304 62391304 single base substitution C A intron_variant MALY-DE 20 62391989 62391989 single base substitution T G intron_variant MALY-DE 20 62394843 62394843 single base substitution C T intron_variant MALY-DE 20 62402052 62402052 single base substitution G A downstream_gene_variant MALY-DE 20 62402052 62402052 single base substitution G A intron_variant MALY-DE 20 62419091 62419091 single base substitution A C exon_variant MALY-DE 20 62419091 62419091 single base substitution A C intron_variant MALY-DE 20 62425094 62425094 single base substitution T C intron_variant MALY-DE 20 62425094 62425094 single base substitution T C upstream_gene_variant MALY-DE 20 62425099 62425099 single base substitution T C intron_variant MALY-DE 20 62425099 62425099 single base substitution T C upstream_gene_variant MALY-DE 20 62426992 62426992 single base substitution C T intron_variant MALY-DE 20 62426992 62426992 single base substitution C T upstream_gene_variant MALY-DE 20 62431357 62431357 single base substitution G A intron_variant MALY-DE 20 62437845 62437845 single base substitution A T intron_variant MALY-DE 20 62437858 62437858 single base substitution A C intron_variant MALY-DE 20 62439312 62439312 single base substitution A G intron_variant MALY-DE 20 62443472 62443472 single base substitution T C intron_variant MALY-DE 20 62443571 62443571 single base substitution T A intron_variant MALY-DE 20 62449437 62449437 single base substitution C T intron_variant MALY-DE 20 62451798 62451798 single base substitution T A intron_variant MALY-DE 20 62457329 62457329 single base substitution C A intron_variant MALY-DE 20 62457635 62457635 single base substitution G T intron_variant MALY-DE 20 62464077 62464077 single base substitution C T upstream_gene_variant MELA-AU 20 62370079 62370079 single base substitution C T downstream_gene_variant MELA-AU 20 62370313 62370313 single base substitution C T downstream_gene_variant MELA-AU 20 62372081 62372081 single base substitution T C downstream_gene_variant MELA-AU 20 62372176 62372176 single base substitution C T downstream_gene_variant MELA-AU 20 62372293 62372293 single base substitution T C downstream_gene_variant MELA-AU 20 62372307 62372307 single base substitution C T downstream_gene_variant MELA-AU 20 62373230 62373230 single base substitution C T downstream_gene_variant MELA-AU 20 62373827 62373827 single base substitution C T downstream_gene_variant MELA-AU 20 62374129 62374129 single base substitution C T downstream_gene_variant MELA-AU 20 62374391 62374391 single base substitution C T downstream_gene_variant MELA-AU 20 62374484 62374484 single base substitution G A downstream_gene_variant MELA-AU 20 62374958 62374958 single base substitution C T downstream_gene_variant MELA-AU 20 62375012 62375012 single base substitution G A downstream_gene_variant MELA-AU 20 62375195 62375195 single base substitution C T 3_prime_UTR_variant MELA-AU 20 62375195 62375195 single base substitution C T downstream_gene_variant MELA-AU 20 62375321 62375321 single base substitution C T 3_prime_UTR_variant MELA-AU 20 62375321 62375321 single base substitution C T downstream_gene_variant MELA-AU 20 62376296 62376296 single base substitution G A 3_prime_UTR_variant MELA-AU 20 62376296 62376296 single base substitution G A intron_variant MELA-AU 20 62376435 62376435 single base substitution C T 3_prime_UTR_variant MELA-AU 20 62376435 62376435 single base substitution C T intron_variant MELA-AU 20 62376869 62376869 single base substitution C G 3_prime_UTR_variant MELA-AU 20 62376869 62376869 single base substitution C G intron_variant MELA-AU 20 62376910 62376910 single base substitution C T 3_prime_UTR_variant MELA-AU 20 62376910 62376910 single base substitution C T intron_variant MELA-AU 20 62377523 62377523 single base substitution C T 3_prime_UTR_variant MELA-AU 20 62377523 62377523 single base substitution C T intron_variant MELA-AU 20 62377787 62377787 single base substitution G A 3_prime_UTR_variant MELA-AU 20 62377787 62377787 single base substitution G A intron_variant MELA-AU 20 62378147 62378148 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 20 62378147 62378148 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 62378153 62378153 single base substitution G A 3_prime_UTR_variant MELA-AU 20 62378153 62378153 single base substitution G A intron_variant MELA-AU 20 62378273 62378273 single base substitution G A 3_prime_UTR_variant MELA-AU 20 62378309 62378309 single base substitution C T missense_variant D582N 1744G>A MELA-AU 20 62378454 62378454 single base substitution G A synonymous_variant P533P 1599C>T MELA-AU 20 62378621 62378622 multiple base substitution (>=2bp and <=200bp) CC TA missense_variant KV477NM MELA-AU 20 62379811 62379811 single base substitution G A intron_variant MELA-AU 20 62379840 62379840 single base substitution G A intron_variant MELA-AU 20 62379965 62379965 single base substitution C T intron_variant MELA-AU 20 62380129 62380129 single base substitution G A intron_variant MELA-AU 20 62380418 62380418 single base substitution C A intron_variant MELA-AU 20 62380566 62380566 single base substitution G C intron_variant MELA-AU 20 62380780 62380780 single base substitution C T intron_variant MELA-AU 20 62380905 62380905 single base substitution G A intron_variant MELA-AU 20 62381157 62381157 single base substitution G A intron_variant MELA-AU 20 62381564 62381564 single base substitution C T intron_variant MELA-AU 20 62381705 62381705 single base substitution C T intron_variant MELA-AU 20 62381980 62381980 single base substitution G A intron_variant MELA-AU 20 62382278 62382278 single base substitution C T intron_variant MELA-AU 20 62382387 62382387 single base substitution C T intron_variant MELA-AU 20 62382655 62382655 single base substitution C T intron_variant MELA-AU 20 62382708 62382708 single base substitution G A intron_variant MELA-AU 20 62383396 62383396 single base substitution C G intron_variant MELA-AU 20 62383655 62383655 single base substitution G A intron_variant MELA-AU 20 62384081 62384081 single base substitution C T synonymous_variant G452G 1356G>A MELA-AU 20 62384428 62384428 single base substitution G A intron_variant MELA-AU 20 62385102 62385103 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 62385539 62385540 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 62386133 62386133 single base substitution T C intron_variant MELA-AU 20 62386580 62386581 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 20 62386704 62386704 single base substitution C A intron_variant MELA-AU 20 62386707 62386707 single base substitution G A intron_variant MELA-AU 20 62386754 62386754 single base substitution C T intron_variant MELA-AU 20 62386793 62386793 single base substitution C T intron_variant MELA-AU 20 62386830 62386830 single base substitution C T intron_variant MELA-AU 20 62387060 62387060 single base substitution G A intron_variant MELA-AU 20 62387253 62387253 single base substitution C T intron_variant MELA-AU 20 62387282 62387282 single base substitution G A intron_variant MELA-AU 20 62387352 62387352 single base substitution G A intron_variant MELA-AU 20 62387589 62387589 single base substitution G A intron_variant MELA-AU 20 62387723 62387724 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 62388067 62388067 single base substitution G A intron_variant MELA-AU 20 62388293 62388293 single base substitution T A intron_variant MELA-AU 20 62388349 62388349 single base substitution G A intron_variant MELA-AU 20 62388352 62388352 single base substitution G A intron_variant MELA-AU 20 62388540 62388540 single base substitution G A intron_variant MELA-AU 20 62388702 62388702 single base substitution C T intron_variant MELA-AU 20 62388745 62388745 single base substitution G A intron_variant MELA-AU 20 62388776 62388777 multiple base substitution (>=2bp and <=200bp) AC GA intron_variant MELA-AU 20 62389694 62389695 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 62389746 62389746 single base substitution G A intron_variant MELA-AU 20 62389803 62389803 single base substitution C T intron_variant MELA-AU 20 62390004 62390004 single base substitution C T intron_variant MELA-AU 20 62390075 62390076 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 62390259 62390259 single base substitution G A intron_variant MELA-AU 20 62390463 62390463 single base substitution A T intron_variant MELA-AU 20 62390503 62390503 single base substitution C T intron_variant MELA-AU 20 62390977 62390977 single base substitution G A intron_variant MELA-AU 20 62391114 62391114 single base substitution A C intron_variant MELA-AU 20 62391287 62391287 single base substitution A T intron_variant MELA-AU 20 62391532 62391532 single base substitution T C intron_variant MELA-AU 20 62392622 62392622 single base substitution G A intron_variant MELA-AU 20 62392899 62392899 single base substitution G A intron_variant MELA-AU 20 62392927 62392927 single base substitution G A intron_variant MELA-AU 20 62393017 62393017 single base substitution C T intron_variant MELA-AU 20 62393168 62393168 single base substitution G A intron_variant MELA-AU 20 62393228 62393228 single base substitution G A intron_variant MELA-AU 20 62394364 62394365 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 62394772 62394772 single base substitution G A intron_variant MELA-AU 20 62394861 62394861 single base substitution G A intron_variant MELA-AU 20 62394891 62394891 single base substitution G A intron_variant MELA-AU 20 62395013 62395013 single base substitution G A intron_variant MELA-AU 20 62395513 62395513 single base substitution A G intron_variant MELA-AU 20 62395684 62395684 single base substitution G A intron_variant MELA-AU 20 62395996 62395996 single base substitution C T intron_variant MELA-AU 20 62396098 62396098 single base substitution G A intron_variant MELA-AU 20 62396222 62396222 single base substitution G A intron_variant MELA-AU 20 62396295 62396295 single base substitution G A intron_variant MELA-AU 20 62396715 62396715 single base substitution C T intron_variant MELA-AU 20 62396916 62396916 single base substitution G A intron_variant MELA-AU 20 62397025 62397025 single base substitution C T intron_variant MELA-AU 20 62398111 62398111 single base substitution G A intron_variant MELA-AU 20 62398424 62398424 single base substitution G A intron_variant MELA-AU 20 62398762 62398763 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 62398776 62398776 single base substitution G A intron_variant MELA-AU 20 62398949 62398949 single base substitution C T intron_variant MELA-AU 20 62399126 62399126 single base substitution G A intron_variant MELA-AU 20 62399342 62399342 single base substitution C T intron_variant MELA-AU 20 62399728 62399728 single base substitution G A intron_variant MELA-AU 20 62400057 62400057 single base substitution C T intron_variant MELA-AU 20 62400091 62400091 single base substitution C T intron_variant MELA-AU 20 62400301 62400301 single base substitution G A intron_variant MELA-AU 20 62400727 62400727 single base substitution G A intron_variant MELA-AU 20 62400909 62400909 single base substitution C T intron_variant MELA-AU 20 62401069 62401069 single base substitution G A intron_variant MELA-AU 20 62401189 62401189 single base substitution G A intron_variant MELA-AU 20 62401338 62401338 single base substitution G A intron_variant MELA-AU 20 62401522 62401522 single base substitution G A intron_variant MELA-AU 20 62401752 62401752 single base substitution G A downstream_gene_variant MELA-AU 20 62401752 62401752 single base substitution G A intron_variant MELA-AU 20 62401882 62401882 single base substitution C T downstream_gene_variant MELA-AU 20 62401882 62401882 single base substitution C T intron_variant MELA-AU 20 62402211 62402211 single base substitution C T downstream_gene_variant MELA-AU 20 62402211 62402211 single base substitution C T intron_variant MELA-AU 20 62402569 62402569 single base substitution G A downstream_gene_variant MELA-AU 20 62402569 62402569 single base substitution G A intron_variant MELA-AU 20 62402591 62402591 single base substitution G A downstream_gene_variant MELA-AU 20 62402591 62402591 single base substitution G A intron_variant MELA-AU 20 62402707 62402707 single base substitution G A downstream_gene_variant MELA-AU 20 62402707 62402707 single base substitution G A intron_variant MELA-AU 20 62402745 62402745 single base substitution G A downstream_gene_variant MELA-AU 20 62402745 62402745 single base substitution G A intron_variant MELA-AU 20 62403042 62403042 single base substitution C T downstream_gene_variant MELA-AU 20 62403042 62403042 single base substitution C T intron_variant MELA-AU 20 62403052 62403052 single base substitution C T downstream_gene_variant MELA-AU 20 62403052 62403052 single base substitution C T intron_variant MELA-AU 20 62403397 62403397 single base substitution G A downstream_gene_variant MELA-AU 20 62403397 62403397 single base substitution G A intron_variant MELA-AU 20 62403440 62403440 single base substitution C T downstream_gene_variant MELA-AU 20 62403440 62403440 single base substitution C T intron_variant MELA-AU 20 62403598 62403598 single base substitution C T downstream_gene_variant MELA-AU 20 62403598 62403598 single base substitution C T intron_variant MELA-AU 20 62403831 62403832 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 62403831 62403832 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 62404313 62404313 single base substitution G A downstream_gene_variant MELA-AU 20 62404313 62404313 single base substitution G A intron_variant MELA-AU 20 62404332 62404332 single base substitution G A downstream_gene_variant MELA-AU 20 62404332 62404332 single base substitution G A intron_variant MELA-AU 20 62404634 62404635 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 62404634 62404635 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 62404866 62404866 single base substitution C T downstream_gene_variant MELA-AU 20 62404866 62404866 single base substitution C T intron_variant MELA-AU 20 62405179 62405179 single base substitution C T downstream_gene_variant MELA-AU 20 62405179 62405179 single base substitution C T intron_variant MELA-AU 20 62405312 62405312 single base substitution G A downstream_gene_variant MELA-AU 20 62405312 62405312 single base substitution G A intron_variant MELA-AU 20 62405592 62405592 single base substitution C A downstream_gene_variant MELA-AU 20 62405592 62405592 single base substitution C A intron_variant MELA-AU 20 62405857 62405857 single base substitution G A downstream_gene_variant MELA-AU 20 62405857 62405857 single base substitution G A intron_variant MELA-AU 20 62406221 62406221 single base substitution T A downstream_gene_variant MELA-AU 20 62406221 62406221 single base substitution T A intron_variant MELA-AU 20 62406826 62406826 single base substitution C T intron_variant MELA-AU 20 62407065 62407065 single base substitution G A exon_variant MELA-AU 20 62407065 62407065 single base substitution G A synonymous_variant F396F 1188C>T MELA-AU 20 62407075 62407075 single base substitution G A exon_variant MELA-AU 20 62407075 62407075 single base substitution G A missense_variant S393F 1178C>T MELA-AU 20 62407087 62407087 single base substitution C T exon_variant MELA-AU 20 62407087 62407087 single base substitution C T missense_variant G389E 1166G>A MELA-AU 20 62407181 62407182 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 20 62407181 62407182 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant KD357KN MELA-AU 20 62407185 62407185 single base substitution C A exon_variant MELA-AU 20 62407185 62407185 single base substitution C A missense_variant E356D 1068G>T MELA-AU 20 62407303 62407303 single base substitution G A exon_variant MELA-AU 20 62407303 62407303 single base substitution G A missense_variant S317F 950C>T MELA-AU 20 62407450 62407450 single base substitution G A intron_variant MELA-AU 20 62407450 62407450 single base substitution G A upstream_gene_variant MELA-AU 20 62407578 62407579 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 62407578 62407579 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 62407708 62407708 single base substitution G A intron_variant MELA-AU 20 62407708 62407708 single base substitution G A upstream_gene_variant MELA-AU 20 62408626 62408626 single base substitution C A intron_variant MELA-AU 20 62408626 62408626 single base substitution C A upstream_gene_variant MELA-AU 20 62408968 62408968 single base substitution G A intron_variant MELA-AU 20 62408968 62408968 single base substitution G A upstream_gene_variant MELA-AU 20 62409031 62409031 single base substitution C A intron_variant MELA-AU 20 62409031 62409031 single base substitution C A upstream_gene_variant MELA-AU 20 62409086 62409086 single base substitution G A intron_variant MELA-AU 20 62409086 62409086 single base substitution G A upstream_gene_variant MELA-AU 20 62410433 62410433 single base substitution G A intron_variant MELA-AU 20 62410433 62410433 single base substitution G A upstream_gene_variant MELA-AU 20 62412199 62412199 single base substitution G A intron_variant MELA-AU 20 62412199 62412199 single base substitution G A upstream_gene_variant MELA-AU 20 62412582 62412582 single base substitution G A intron_variant MELA-AU 20 62412588 62412588 single base substitution A G intron_variant MELA-AU 20 62412688 62412688 single base substitution G A intron_variant MELA-AU 20 62412858 62412858 single base substitution G A intron_variant MELA-AU 20 62412941 62412941 single base substitution C T intron_variant MELA-AU 20 62412963 62412963 single base substitution G A intron_variant MELA-AU 20 62412971 62412971 single base substitution C T intron_variant MELA-AU 20 62413071 62413071 single base substitution G A intron_variant MELA-AU 20 62413073 62413073 single base substitution A T intron_variant MELA-AU 20 62413655 62413655 single base substitution G A intron_variant MELA-AU 20 62413684 62413684 single base substitution G A intron_variant MELA-AU 20 62413729 62413729 single base substitution G A intron_variant MELA-AU 20 62413806 62413806 single base substitution G A intron_variant MELA-AU 20 62414132 62414132 single base substitution G A downstream_gene_variant MELA-AU 20 62414132 62414132 single base substitution G A intron_variant MELA-AU 20 62414606 62414606 single base substitution C T downstream_gene_variant MELA-AU 20 62414606 62414606 single base substitution C T intron_variant MELA-AU 20 62415098 62415099 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 62415098 62415099 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 62415196 62415196 single base substitution G A downstream_gene_variant MELA-AU 20 62415196 62415196 single base substitution G A intron_variant MELA-AU 20 62415366 62415366 single base substitution G A downstream_gene_variant MELA-AU 20 62415366 62415366 single base substitution G A intron_variant MELA-AU 20 62415450 62415450 single base substitution G A downstream_gene_variant MELA-AU 20 62415450 62415450 single base substitution G A intron_variant MELA-AU 20 62415453 62415453 single base substitution G A downstream_gene_variant MELA-AU 20 62415453 62415453 single base substitution G A intron_variant MELA-AU 20 62415567 62415567 single base substitution G A downstream_gene_variant MELA-AU 20 62415567 62415567 single base substitution G A intron_variant MELA-AU 20 62416042 62416042 single base substitution G A downstream_gene_variant MELA-AU 20 62416042 62416042 single base substitution G A intron_variant MELA-AU 20 62416204 62416204 single base substitution G A downstream_gene_variant MELA-AU 20 62416204 62416204 single base substitution G A intron_variant MELA-AU 20 62416479 62416479 single base substitution G A downstream_gene_variant MELA-AU 20 62416479 62416479 single base substitution G A intron_variant MELA-AU 20 62416690 62416690 single base substitution G A downstream_gene_variant MELA-AU 20 62416690 62416690 single base substitution G A intron_variant MELA-AU 20 62417031 62417031 single base substitution G A downstream_gene_variant MELA-AU 20 62417031 62417031 single base substitution G A intron_variant MELA-AU 20 62417097 62417097 single base substitution G A downstream_gene_variant MELA-AU 20 62417097 62417097 single base substitution G A intron_variant MELA-AU 20 62417470 62417470 single base substitution G A downstream_gene_variant MELA-AU 20 62417470 62417470 single base substitution G A intron_variant MELA-AU 20 62417797 62417797 single base substitution G A downstream_gene_variant MELA-AU 20 62417797 62417797 single base substitution G A intron_variant MELA-AU 20 62417798 62417798 single base substitution G A downstream_gene_variant MELA-AU 20 62417798 62417798 single base substitution G A intron_variant MELA-AU 20 62418458 62418458 single base substitution G A downstream_gene_variant MELA-AU 20 62418458 62418458 single base substitution G A intron_variant MELA-AU 20 62418614 62418614 single base substitution G A downstream_gene_variant MELA-AU 20 62418614 62418614 single base substitution G A intron_variant MELA-AU 20 62418856 62418856 single base substitution T C downstream_gene_variant MELA-AU 20 62418856 62418856 single base substitution T C intron_variant MELA-AU 20 62418989 62418989 single base substitution G A downstream_gene_variant MELA-AU 20 62418989 62418989 single base substitution G A intron_variant MELA-AU 20 62419109 62419109 single base substitution G A exon_variant MELA-AU 20 62419109 62419109 single base substitution G A intron_variant MELA-AU 20 62419233 62419233 single base substitution C T exon_variant MELA-AU 20 62419233 62419233 single base substitution C T intron_variant MELA-AU 20 62419490 62419490 single base substitution G A exon_variant MELA-AU 20 62419490 62419490 single base substitution G A intron_variant MELA-AU 20 62419668 62419668 single base substitution G A intron_variant MELA-AU 20 62419690 62419690 single base substitution C T intron_variant MELA-AU 20 62419940 62419940 single base substitution C T intron_variant MELA-AU 20 62420252 62420252 single base substitution G A intron_variant MELA-AU 20 62420447 62420447 single base substitution G A intron_variant MELA-AU 20 62420793 62420793 single base substitution C T intron_variant MELA-AU 20 62420930 62420930 single base substitution G A intron_variant MELA-AU 20 62421213 62421213 single base substitution G A synonymous_variant L300L 898C>T MELA-AU 20 62421213 62421213 single base substitution G A upstream_gene_variant MELA-AU 20 62421277 62421277 single base substitution G A synonymous_variant T278T 834C>T MELA-AU 20 62421277 62421277 single base substitution G A upstream_gene_variant MELA-AU 20 62421301 62421301 single base substitution C T synonymous_variant R270R 810G>A MELA-AU 20 62421301 62421301 single base substitution C T upstream_gene_variant MELA-AU 20 62421446 62421446 single base substitution C T missense_variant G222D 665G>A MELA-AU 20 62421446 62421446 single base substitution C T upstream_gene_variant MELA-AU 20 62421503 62421503 single base substitution G A missense_variant P203L 608C>T MELA-AU 20 62421503 62421503 single base substitution G A upstream_gene_variant MELA-AU 20 62421760 62421760 single base substitution G A synonymous_variant I117I 351C>T MELA-AU 20 62421760 62421760 single base substitution G A upstream_gene_variant MELA-AU 20 62421880 62421880 single base substitution G A synonymous_variant I77I 231C>T MELA-AU 20 62421880 62421880 single base substitution G A upstream_gene_variant MELA-AU 20 62422003 62422003 single base substitution G A synonymous_variant V36V 108C>T MELA-AU 20 62422003 62422003 single base substitution G A upstream_gene_variant MELA-AU 20 62422353 62422353 single base substitution G A intron_variant MELA-AU 20 62422353 62422353 single base substitution G A upstream_gene_variant MELA-AU 20 62422410 62422410 single base substitution C T intron_variant MELA-AU 20 62422410 62422410 single base substitution C T upstream_gene_variant MELA-AU 20 62422509 62422509 single base substitution C T intron_variant MELA-AU 20 62422509 62422509 single base substitution C T upstream_gene_variant MELA-AU 20 62422523 62422523 single base substitution C T intron_variant MELA-AU 20 62422523 62422523 single base substitution C T upstream_gene_variant MELA-AU 20 62422553 62422553 single base substitution G A intron_variant MELA-AU 20 62422553 62422553 single base substitution G A upstream_gene_variant MELA-AU 20 62422774 62422774 single base substitution G A intron_variant MELA-AU 20 62422774 62422774 single base substitution G A upstream_gene_variant MELA-AU 20 62423093 62423093 single base substitution G A intron_variant MELA-AU 20 62423093 62423093 single base substitution G A upstream_gene_variant MELA-AU 20 62423576 62423576 single base substitution G A intron_variant MELA-AU 20 62423576 62423576 single base substitution G A upstream_gene_variant MELA-AU 20 62423782 62423782 single base substitution T C intron_variant MELA-AU 20 62423782 62423782 single base substitution T C upstream_gene_variant MELA-AU 20 62423805 62423805 single base substitution C T intron_variant MELA-AU 20 62423805 62423805 single base substitution C T upstream_gene_variant MELA-AU 20 62424051 62424051 single base substitution A T intron_variant MELA-AU 20 62424051 62424051 single base substitution A T upstream_gene_variant MELA-AU 20 62424435 62424435 single base substitution G A intron_variant MELA-AU 20 62424435 62424435 single base substitution G A upstream_gene_variant MELA-AU 20 62424466 62424483 deletion of <=200bp CCAGGCCCCCGCCTGACT - intron_variant MELA-AU 20 62424466 62424483 deletion of <=200bp CCAGGCCCCCGCCTGACT - upstream_gene_variant MELA-AU 20 62424916 62424916 single base substitution C T intron_variant MELA-AU 20 62424916 62424916 single base substitution C T upstream_gene_variant MELA-AU 20 62425867 62425867 single base substitution G A intron_variant MELA-AU 20 62425867 62425867 single base substitution G A upstream_gene_variant MELA-AU 20 62426142 62426142 single base substitution G A intron_variant MELA-AU 20 62426142 62426142 single base substitution G A upstream_gene_variant MELA-AU 20 62426299 62426299 single base substitution G A intron_variant MELA-AU 20 62426299 62426299 single base substitution G A upstream_gene_variant MELA-AU 20 62426486 62426486 single base substitution C T intron_variant MELA-AU 20 62426486 62426486 single base substitution C T upstream_gene_variant MELA-AU 20 62426664 62426664 single base substitution G A intron_variant MELA-AU 20 62426664 62426664 single base substitution G A upstream_gene_variant MELA-AU 20 62426984 62426984 single base substitution C T intron_variant MELA-AU 20 62426984 62426984 single base substitution C T upstream_gene_variant MELA-AU 20 62427220 62427220 single base substitution G A intron_variant MELA-AU 20 62427265 62427265 single base substitution G A intron_variant MELA-AU 20 62427889 62427889 single base substitution C T intron_variant MELA-AU 20 62427971 62427971 single base substitution G A intron_variant MELA-AU 20 62428388 62428388 single base substitution C T intron_variant MELA-AU 20 62428641 62428641 single base substitution T C intron_variant MELA-AU 20 62428753 62428753 single base substitution C T intron_variant MELA-AU 20 62429004 62429004 single base substitution C T intron_variant MELA-AU 20 62429025 62429025 single base substitution C T intron_variant MELA-AU 20 62429214 62429214 single base substitution T A intron_variant MELA-AU 20 62430095 62430095 single base substitution G A intron_variant MELA-AU 20 62430123 62430123 single base substitution G A intron_variant MELA-AU 20 62430296 62430296 single base substitution C T intron_variant MELA-AU 20 62431130 62431131 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 62431184 62431184 single base substitution G A intron_variant MELA-AU 20 62431316 62431316 single base substitution C T intron_variant MELA-AU 20 62431335 62431335 single base substitution C T intron_variant MELA-AU 20 62431483 62431483 single base substitution C T intron_variant MELA-AU 20 62431629 62431629 single base substitution G A intron_variant MELA-AU 20 62431752 62431752 single base substitution G A intron_variant MELA-AU 20 62431917 62431917 single base substitution G A intron_variant MELA-AU 20 62431931 62431931 single base substitution G A intron_variant MELA-AU 20 62432147 62432147 single base substitution G A intron_variant MELA-AU 20 62432283 62432283 single base substitution G A intron_variant MELA-AU 20 62432362 62432362 single base substitution G A intron_variant MELA-AU 20 62433034 62433034 single base substitution A C intron_variant MELA-AU 20 62433229 62433229 single base substitution G A intron_variant MELA-AU 20 62433285 62433285 single base substitution C G intron_variant MELA-AU 20 62433599 62433599 single base substitution A G intron_variant MELA-AU 20 62433762 62433762 single base substitution G A intron_variant MELA-AU 20 62433803 62433804 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 62433821 62433821 single base substitution G A intron_variant MELA-AU 20 62433903 62433903 single base substitution G A intron_variant MELA-AU 20 62433960 62433960 single base substitution C T intron_variant MELA-AU 20 62434105 62434105 single base substitution G A intron_variant MELA-AU 20 62434133 62434133 single base substitution G A intron_variant MELA-AU 20 62434154 62434154 single base substitution G A intron_variant MELA-AU 20 62434255 62434255 single base substitution A G intron_variant MELA-AU 20 62435494 62435494 single base substitution G C intron_variant MELA-AU 20 62435821 62435821 single base substitution C T intron_variant MELA-AU 20 62436337 62436337 single base substitution G A intron_variant MELA-AU 20 62436377 62436377 single base substitution G A intron_variant MELA-AU 20 62436464 62436464 single base substitution G A intron_variant MELA-AU 20 62436801 62436801 single base substitution G A intron_variant MELA-AU 20 62436824 62436824 single base substitution G A intron_variant MELA-AU 20 62436855 62436855 single base substitution C T intron_variant MELA-AU 20 62436947 62436947 single base substitution C T intron_variant MELA-AU 20 62436951 62436951 single base substitution G A intron_variant MELA-AU 20 62437133 62437133 single base substitution G A intron_variant MELA-AU 20 62437452 62437452 single base substitution T C intron_variant MELA-AU 20 62437649 62437650 multiple base substitution (>=2bp and <=200bp) AC CA intron_variant MELA-AU 20 62437775 62437775 single base substitution A G intron_variant MELA-AU 20 62437951 62437951 single base substitution G A intron_variant MELA-AU 20 62438525 62438526 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 62439176 62439176 single base substitution C T intron_variant MELA-AU 20 62439408 62439408 single base substitution C A intron_variant MELA-AU 20 62439495 62439496 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 62439518 62439518 single base substitution C A intron_variant MELA-AU 20 62439810 62439810 single base substitution G A intron_variant MELA-AU 20 62440145 62440145 single base substitution G A intron_variant MELA-AU 20 62440349 62440349 single base substitution A G intron_variant MELA-AU 20 62440514 62440514 single base substitution C T intron_variant MELA-AU 20 62440565 62440565 single base substitution G A intron_variant MELA-AU 20 62440871 62440871 single base substitution G A intron_variant MELA-AU 20 62440988 62440988 single base substitution G C intron_variant MELA-AU 20 62441112 62441112 single base substitution C T intron_variant MELA-AU 20 62441445 62441445 single base substitution G A intron_variant MELA-AU 20 62441508 62441508 single base substitution G A intron_variant MELA-AU 20 62441871 62441871 single base substitution G A intron_variant MELA-AU 20 62441920 62441920 single base substitution G A intron_variant MELA-AU 20 62442443 62442443 single base substitution C T intron_variant MELA-AU 20 62442576 62442576 single base substitution C T intron_variant MELA-AU 20 62442584 62442584 single base substitution G A intron_variant MELA-AU 20 62442858 62442858 single base substitution C T intron_variant MELA-AU 20 62442860 62442860 single base substitution G A intron_variant MELA-AU 20 62443757 62443757 single base substitution G A intron_variant MELA-AU 20 62443894 62443894 single base substitution T G intron_variant MELA-AU 20 62444256 62444256 single base substitution G A intron_variant MELA-AU 20 62444441 62444441 single base substitution C A intron_variant MELA-AU 20 62444721 62444721 single base substitution G A intron_variant MELA-AU 20 62445147 62445147 single base substitution A T intron_variant MELA-AU 20 62445441 62445441 single base substitution C T intron_variant MELA-AU 20 62445653 62445653 single base substitution G A intron_variant MELA-AU 20 62446902 62446902 single base substitution G A intron_variant MELA-AU 20 62446952 62446952 single base substitution G A intron_variant MELA-AU 20 62447578 62447578 single base substitution G A intron_variant MELA-AU 20 62448102 62448102 single base substitution G A intron_variant MELA-AU 20 62449719 62449719 single base substitution G A intron_variant MELA-AU 20 62449993 62449993 single base substitution G A intron_variant MELA-AU 20 62450747 62450747 single base substitution T A intron_variant MELA-AU 20 62451602 62451602 single base substitution A T intron_variant MELA-AU 20 62451798 62451798 single base substitution T A intron_variant MELA-AU 20 62452696 62452696 single base substitution G A intron_variant MELA-AU 20 62452722 62452722 single base substitution C T intron_variant MELA-AU 20 62453292 62453292 single base substitution C T intron_variant MELA-AU 20 62453294 62453294 single base substitution C T intron_variant MELA-AU 20 62453418 62453418 single base substitution G A intron_variant MELA-AU 20 62454023 62454023 single base substitution A G intron_variant MELA-AU 20 62454055 62454055 single base substitution C T intron_variant MELA-AU 20 62454126 62454126 single base substitution G A intron_variant MELA-AU 20 62454181 62454181 single base substitution A G intron_variant MELA-AU 20 62454404 62454404 single base substitution G A intron_variant MELA-AU 20 62454428 62454428 single base substitution G A intron_variant MELA-AU 20 62454632 62454632 single base substitution G A intron_variant MELA-AU 20 62455549 62455549 single base substitution C T intron_variant MELA-AU 20 62456923 62456923 single base substitution C T intron_variant MELA-AU 20 62457035 62457035 single base substitution G A intron_variant MELA-AU 20 62457689 62457689 single base substitution G A intron_variant MELA-AU 20 62457880 62457880 single base substitution C T intron_variant MELA-AU 20 62458065 62458065 single base substitution G A intron_variant MELA-AU 20 62458363 62458363 single base substitution G A intron_variant MELA-AU 20 62459650 62459650 single base substitution C T intron_variant MELA-AU 20 62459708 62459708 single base substitution G A intron_variant MELA-AU 20 62459721 62459721 single base substitution C G intron_variant MELA-AU 20 62459830 62459830 single base substitution G A intron_variant MELA-AU 20 62460023 62460023 single base substitution C T intron_variant MELA-AU 20 62460622 62460622 single base substitution T C intron_variant MELA-AU 20 62460960 62460960 single base substitution T A intron_variant MELA-AU 20 62461417 62461417 single base substitution G A intron_variant MELA-AU 20 62461514 62461514 single base substitution C T intron_variant MELA-AU 20 62462695 62462695 single base substitution C T upstream_gene_variant MELA-AU 20 62463056 62463056 single base substitution C T upstream_gene_variant MELA-AU 20 62463138 62463139 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 62464037 62464037 single base substitution G A upstream_gene_variant MELA-AU 20 62464319 62464319 single base substitution C T upstream_gene_variant MELA-AU 20 62464379 62464379 single base substitution C T upstream_gene_variant MELA-AU 20 62464740 62464740 single base substitution C T upstream_gene_variant MELA-AU 20 62465179 62465179 single base substitution C T upstream_gene_variant MELA-AU 20 62465295 62465295 single base substitution G A upstream_gene_variant MELA-AU 20 62465298 62465298 single base substitution G A upstream_gene_variant MELA-AU 20 62465472 62465472 single base substitution C T upstream_gene_variant MELA-AU 20 62465648 62465648 single base substitution G A upstream_gene_variant MELA-AU 20 62465844 62465844 single base substitution G A upstream_gene_variant MELA-AU 20 62465955 62465955 single base substitution G A upstream_gene_variant MELA-AU 20 62466118 62466118 single base substitution C T upstream_gene_variant MELA-AU 20 62466152 62466152 single base substitution G A upstream_gene_variant MELA-AU 20 62466157 62466157 single base substitution G A upstream_gene_variant MELA-AU 20 62466280 62466280 single base substitution G A upstream_gene_variant MELA-AU 20 62466291 62466291 single base substitution C T upstream_gene_variant MELA-AU 20 62466404 62466404 single base substitution G A upstream_gene_variant MELA-AU 20 62466516 62466516 single base substitution C T upstream_gene_variant MELA-AU 20 62466517 62466517 single base substitution C T upstream_gene_variant MELA-AU 20 62466702 62466702 single base substitution C T upstream_gene_variant MELA-AU 20 62466891 62466891 single base substitution C T upstream_gene_variant MELA-AU 20 62467096 62467097 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 62467097 62467097 single base substitution G A upstream_gene_variant ORCA-IN 20 62386374 62386374 single base substitution T G intron_variant ORCA-IN 20 62396040 62396040 single base substitution C T intron_variant ORCA-IN 20 62407249 62407249 single base substitution G T exon_variant ORCA-IN 20 62407249 62407249 single base substitution G T missense_variant A335E 1004C>A ORCA-IN 20 62423782 62423782 single base substitution T C intron_variant ORCA-IN 20 62423782 62423782 single base substitution T C upstream_gene_variant ORCA-IN 20 62424029 62424029 single base substitution T C intron_variant ORCA-IN 20 62424029 62424029 single base substitution T C upstream_gene_variant ORCA-IN 20 62431958 62431958 single base substitution G A intron_variant OV-AU 20 62378011 62378011 single base substitution T G 3_prime_UTR_variant OV-AU 20 62378011 62378011 single base substitution T G intron_variant OV-AU 20 62378454 62378454 single base substitution G C synonymous_variant P533P 1599C>G OV-AU 20 62382258 62382258 single base substitution A C intron_variant OV-AU 20 62383450 62383450 single base substitution C T intron_variant OV-AU 20 62389392 62389392 single base substitution A C intron_variant OV-AU 20 62391145 62391145 single base substitution C G intron_variant OV-AU 20 62402406 62402406 single base substitution C G downstream_gene_variant OV-AU 20 62402406 62402406 single base substitution C G intron_variant OV-AU 20 62405013 62405013 single base substitution G A downstream_gene_variant OV-AU 20 62405013 62405013 single base substitution G A intron_variant OV-AU 20 62405014 62405014 single base substitution C G downstream_gene_variant OV-AU 20 62405014 62405014 single base substitution C G intron_variant OV-AU 20 62411935 62411935 single base substitution C T intron_variant OV-AU 20 62411935 62411935 single base substitution C T upstream_gene_variant OV-AU 20 62413339 62413339 single base substitution C G intron_variant OV-AU 20 62413538 62413538 single base substitution G A intron_variant OV-AU 20 62417430 62417430 single base substitution G A downstream_gene_variant OV-AU 20 62417430 62417430 single base substitution G A intron_variant OV-AU 20 62421630 62421630 single base substitution C T missense_variant V161M 481G>A OV-AU 20 62421630 62421630 single base substitution C T upstream_gene_variant OV-AU 20 62421669 62421669 single base substitution C T missense_variant A148T 442G>A OV-AU 20 62421669 62421669 single base substitution C T upstream_gene_variant OV-AU 20 62427919 62427919 single base substitution C A intron_variant OV-AU 20 62430443 62430443 single base substitution G A intron_variant OV-AU 20 62430649 62430649 single base substitution T G intron_variant OV-AU 20 62431887 62431887 single base substitution G A intron_variant OV-AU 20 62433148 62433148 single base substitution G T intron_variant OV-AU 20 62434855 62434855 single base substitution T C intron_variant OV-AU 20 62436089 62436089 single base substitution A T intron_variant OV-AU 20 62437132 62437132 single base substitution G A intron_variant OV-AU 20 62438280 62438280 single base substitution C A intron_variant OV-AU 20 62439346 62439346 single base substitution G A intron_variant OV-AU 20 62442183 62442183 single base substitution G A intron_variant OV-AU 20 62445723 62445723 single base substitution G T intron_variant OV-AU 20 62449802 62449802 single base substitution G T intron_variant OV-AU 20 62460295 62460295 single base substitution C G intron_variant OV-AU 20 62460786 62460786 single base substitution T A intron_variant OV-AU 20 62465301 62465301 single base substitution G T upstream_gene_variant OV-AU 20 62465803 62465803 single base substitution C T upstream_gene_variant OV-AU 20 62466067 62466067 single base substitution C T upstream_gene_variant PACA-AU 20 62374388 62374388 single base substitution A C downstream_gene_variant PACA-AU 20 62374475 62374475 single base substitution T G downstream_gene_variant PACA-AU 20 62374602 62374602 single base substitution C T downstream_gene_variant PACA-AU 20 62381638 62381638 single base substitution C A intron_variant PACA-AU 20 62382524 62382524 single base substitution C T intron_variant PACA-AU 20 62384201 62384201 single base substitution C T synonymous_variant T412T 1236G>A PACA-AU 20 62385691 62385691 single base substitution C T intron_variant PACA-AU 20 62390949 62390949 single base substitution G T intron_variant PACA-AU 20 62392232 62392232 single base substitution C A intron_variant PACA-AU 20 62395982 62395982 single base substitution T A intron_variant PACA-AU 20 62401492 62401492 single base substitution T G intron_variant PACA-AU 20 62402885 62402885 single base substitution C T downstream_gene_variant PACA-AU 20 62402885 62402885 single base substitution C T intron_variant PACA-AU 20 62403058 62403058 single base substitution G A downstream_gene_variant PACA-AU 20 62403058 62403058 single base substitution G A intron_variant PACA-AU 20 62405041 62405041 single base substitution G A downstream_gene_variant PACA-AU 20 62405041 62405041 single base substitution G A intron_variant PACA-AU 20 62408197 62408197 single base substitution A G intron_variant PACA-AU 20 62408197 62408197 single base substitution A G upstream_gene_variant PACA-AU 20 62408560 62408560 single base substitution C T intron_variant PACA-AU 20 62408560 62408560 single base substitution C T upstream_gene_variant PACA-AU 20 62408731 62408731 single base substitution G A intron_variant PACA-AU 20 62408731 62408731 single base substitution G A upstream_gene_variant PACA-AU 20 62412256 62412256 single base substitution G A intron_variant PACA-AU 20 62412256 62412256 single base substitution G A upstream_gene_variant PACA-AU 20 62413833 62413833 single base substitution C G intron_variant PACA-AU 20 62418582 62418582 single base substitution C T downstream_gene_variant PACA-AU 20 62418582 62418582 single base substitution C T intron_variant PACA-AU 20 62418834 62418834 single base substitution C T downstream_gene_variant PACA-AU 20 62418834 62418834 single base substitution C T intron_variant PACA-AU 20 62421115 62421115 single base substitution G A intron_variant PACA-AU 20 62421955 62421955 single base substitution G T missense_variant S52R 156C>A PACA-AU 20 62421955 62421955 single base substitution G T upstream_gene_variant PACA-AU 20 62424339 62424339 single base substitution C T intron_variant PACA-AU 20 62424339 62424339 single base substitution C T upstream_gene_variant PACA-AU 20 62424421 62424421 single base substitution C T intron_variant PACA-AU 20 62424421 62424421 single base substitution C T upstream_gene_variant PACA-AU 20 62425382 62425382 single base substitution A G intron_variant PACA-AU 20 62425382 62425382 single base substitution A G upstream_gene_variant PACA-AU 20 62428281 62428281 single base substitution G A intron_variant PACA-AU 20 62429743 62429743 single base substitution G A intron_variant PACA-AU 20 62429753 62429753 single base substitution C T intron_variant PACA-AU 20 62432230 62432230 single base substitution G A intron_variant PACA-AU 20 62434024 62434024 single base substitution A C intron_variant PACA-AU 20 62436089 62436089 single base substitution A T intron_variant PACA-AU 20 62439141 62439141 single base substitution G A intron_variant PACA-AU 20 62439458 62439458 single base substitution G A intron_variant PACA-AU 20 62440192 62440192 single base substitution G A intron_variant PACA-AU 20 62440578 62440591 deletion of <=200bp GCAGCCCTGGGGGC - intron_variant PACA-AU 20 62440630 62440630 single base substitution G A intron_variant PACA-AU 20 62442214 62442214 single base substitution G A intron_variant PACA-AU 20 62442379 62442379 single base substitution G A intron_variant PACA-AU 20 62443866 62443866 single base substitution G A intron_variant PACA-AU 20 62447227 62447227 single base substitution C G intron_variant PACA-AU 20 62448303 62448303 single base substitution C T intron_variant PACA-AU 20 62454807 62454807 single base substitution C T intron_variant PACA-AU 20 62455944 62455944 single base substitution T A intron_variant PACA-AU 20 62456879 62456879 single base substitution A G intron_variant PACA-AU 20 62457425 62457425 single base substitution G A intron_variant PACA-AU 20 62459862 62459862 single base substitution T A intron_variant PACA-AU 20 62460513 62460513 single base substitution G A intron_variant PACA-AU 20 62466052 62466052 single base substitution G A upstream_gene_variant PACA-CA 20 62374958 62374958 single base substitution C T downstream_gene_variant PACA-CA 20 62375938 62375938 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 20 62376014 62376014 single base substitution C A 3_prime_UTR_variant PACA-CA 20 62380554 62380554 single base substitution G C intron_variant PACA-CA 20 62384663 62384663 single base substitution G A intron_variant PACA-CA 20 62384932 62384932 single base substitution C T intron_variant PACA-CA 20 62385541 62385541 single base substitution G A intron_variant PACA-CA 20 62390242 62390242 single base substitution G A intron_variant PACA-CA 20 62391934 62391934 single base substitution C T intron_variant PACA-CA 20 62393061 62393061 single base substitution G A intron_variant PACA-CA 20 62394033 62394033 insertion of <=200bp - C intron_variant PACA-CA 20 62394036 62394036 insertion of <=200bp - C intron_variant PACA-CA 20 62397366 62397366 single base substitution C T intron_variant PACA-CA 20 62398027 62398027 single base substitution G A intron_variant PACA-CA 20 62398238 62398238 single base substitution C T intron_variant PACA-CA 20 62398692 62398692 single base substitution C A intron_variant PACA-CA 20 62400951 62400951 single base substitution C T intron_variant PACA-CA 20 62401444 62401444 single base substitution C T intron_variant PACA-CA 20 62401672 62401672 single base substitution C T downstream_gene_variant PACA-CA 20 62401672 62401672 single base substitution C T intron_variant PACA-CA 20 62407003 62407003 single base substitution C A intron_variant PACA-CA 20 62407416 62407416 single base substitution G A intron_variant PACA-CA 20 62407416 62407416 single base substitution G A upstream_gene_variant PACA-CA 20 62407788 62407788 single base substitution G T intron_variant PACA-CA 20 62407788 62407788 single base substitution G T upstream_gene_variant PACA-CA 20 62408586 62408586 single base substitution G A intron_variant PACA-CA 20 62408586 62408586 single base substitution G A upstream_gene_variant PACA-CA 20 62409061 62409061 single base substitution C T intron_variant PACA-CA 20 62409061 62409061 single base substitution C T upstream_gene_variant PACA-CA 20 62410126 62410126 single base substitution T C intron_variant PACA-CA 20 62410126 62410126 single base substitution T C upstream_gene_variant PACA-CA 20 62410391 62410391 single base substitution G T intron_variant PACA-CA 20 62410391 62410391 single base substitution G T upstream_gene_variant PACA-CA 20 62414310 62414310 single base substitution C G downstream_gene_variant PACA-CA 20 62414310 62414310 single base substitution C G intron_variant PACA-CA 20 62414490 62414490 single base substitution A C downstream_gene_variant PACA-CA 20 62414490 62414490 single base substitution A C intron_variant PACA-CA 20 62415065 62415065 single base substitution T C downstream_gene_variant PACA-CA 20 62415065 62415065 single base substitution T C intron_variant PACA-CA 20 62415409 62415409 single base substitution C T downstream_gene_variant PACA-CA 20 62415409 62415409 single base substitution C T intron_variant PACA-CA 20 62417200 62417200 single base substitution G A downstream_gene_variant PACA-CA 20 62417200 62417200 single base substitution G A intron_variant PACA-CA 20 62418983 62418983 single base substitution T C downstream_gene_variant PACA-CA 20 62418983 62418983 single base substitution T C intron_variant PACA-CA 20 62421158 62421158 single base substitution C T intron_variant PACA-CA 20 62421559 62421559 single base substitution C T synonymous_variant S184S 552G>A PACA-CA 20 62421559 62421559 single base substitution C T upstream_gene_variant PACA-CA 20 62421664 62421664 single base substitution C T synonymous_variant S149S 447G>A PACA-CA 20 62421664 62421664 single base substitution C T upstream_gene_variant PACA-CA 20 62424714 62424714 single base substitution C T intron_variant PACA-CA 20 62424714 62424714 single base substitution C T upstream_gene_variant PACA-CA 20 62426517 62426517 single base substitution C A intron_variant PACA-CA 20 62426517 62426517 single base substitution C A upstream_gene_variant PACA-CA 20 62426646 62426646 single base substitution G A intron_variant PACA-CA 20 62426646 62426646 single base substitution G A upstream_gene_variant PACA-CA 20 62426959 62426959 single base substitution C T intron_variant PACA-CA 20 62426959 62426959 single base substitution C T upstream_gene_variant PACA-CA 20 62427044 62427044 single base substitution C T intron_variant PACA-CA 20 62427044 62427044 single base substitution C T upstream_gene_variant PACA-CA 20 62433088 62433088 single base substitution C T intron_variant PACA-CA 20 62434788 62434788 single base substitution T C intron_variant PACA-CA 20 62437444 62437444 single base substitution T G intron_variant PACA-CA 20 62437773 62437773 single base substitution A G intron_variant PACA-CA 20 62438057 62438057 single base substitution G A intron_variant PACA-CA 20 62439336 62439336 single base substitution C A intron_variant PACA-CA 20 62439372 62439372 single base substitution C A intron_variant PACA-CA 20 62440002 62440002 single base substitution C T intron_variant PACA-CA 20 62443405 62443405 single base substitution G A intron_variant PACA-CA 20 62445226 62445226 single base substitution G A intron_variant PACA-CA 20 62447077 62447077 single base substitution A G intron_variant PACA-CA 20 62449037 62449037 single base substitution C A intron_variant PACA-CA 20 62450354 62450354 single base substitution G A intron_variant PACA-CA 20 62450705 62450705 single base substitution C T intron_variant PACA-CA 20 62451076 62451076 single base substitution A C intron_variant PACA-CA 20 62451690 62451690 single base substitution G T intron_variant PACA-CA 20 62453711 62453711 single base substitution C T intron_variant PACA-CA 20 62455173 62455173 single base substitution G A intron_variant PACA-CA 20 62457553 62457553 single base substitution A C intron_variant PACA-CA 20 62457846 62457846 single base substitution C T intron_variant PACA-CA 20 62459704 62459704 single base substitution C T intron_variant PACA-CA 20 62460420 62460420 single base substitution C T intron_variant PACA-CA 20 62461297 62461297 single base substitution C A intron_variant PACA-CA 20 62461527 62461527 single base substitution T C intron_variant PACA-CA 20 62464403 62464403 single base substitution G A upstream_gene_variant PACA-CA 20 62464404 62464404 single base substitution C T upstream_gene_variant PAEN-AU 20 62370631 62370631 single base substitution T G downstream_gene_variant PAEN-AU 20 62377139 62377139 single base substitution C T 3_prime_UTR_variant PAEN-AU 20 62377139 62377139 single base substitution C T intron_variant PAEN-AU 20 62378185 62378185 single base substitution G A 3_prime_UTR_variant PAEN-AU 20 62378185 62378185 single base substitution G A intron_variant PAEN-AU 20 62421115 62421115 single base substitution G A intron_variant PAEN-AU 20 62428703 62428703 single base substitution G A intron_variant PAEN-AU 20 62439346 62439346 single base substitution G A intron_variant PAEN-AU 20 62454111 62454111 single base substitution C T intron_variant PAEN-AU 20 62464168 62464168 single base substitution A C upstream_gene_variant PAEN-IT 20 62384585 62384585 single base substitution G T intron_variant PAEN-IT 20 62394282 62394282 single base substitution A G intron_variant PAEN-IT 20 62428580 62428580 single base substitution C T intron_variant PBCA-DE 20 62371378 62371378 single base substitution C A downstream_gene_variant PBCA-DE 20 62373707 62373707 single base substitution G T downstream_gene_variant PBCA-DE 20 62378735 62378735 insertion of <=200bp - TGGA intron_variant PBCA-DE 20 62391537 62391537 single base substitution C T intron_variant PBCA-DE 20 62406641 62406641 single base substitution C T exon_variant PBCA-DE 20 62406641 62406641 single base substitution C T intron_variant PBCA-DE 20 62410029 62410029 insertion of <=200bp - T intron_variant PBCA-DE 20 62410029 62410029 insertion of <=200bp - T upstream_gene_variant PBCA-DE 20 62421274 62421274 single base substitution G A synonymous_variant V279V 837C>T PBCA-DE 20 62421274 62421274 single base substitution G A upstream_gene_variant PBCA-DE 20 62425065 62425065 single base substitution T C intron_variant PBCA-DE 20 62425065 62425065 single base substitution T C upstream_gene_variant PBCA-DE 20 62425067 62425067 single base substitution T C intron_variant PBCA-DE 20 62425067 62425067 single base substitution T C upstream_gene_variant PBCA-DE 20 62439620 62439620 single base substitution G A intron_variant PBCA-DE 20 62445226 62445226 single base substitution G A intron_variant PBCA-DE 20 62446936 62446936 single base substitution A G intron_variant PBCA-DE 20 62447300 62447300 insertion of <=200bp - GTGGGCACAG intron_variant PBCA-DE 20 62447335 62447335 single base substitution C T intron_variant PRAD-CA 20 62374968 62374968 single base substitution C T downstream_gene_variant PRAD-CA 20 62382782 62382782 single base substitution G A intron_variant PRAD-CA 20 62388168 62388168 single base substitution G A intron_variant PRAD-CA 20 62436462 62436462 single base substitution C T intron_variant PRAD-CA 20 62443150 62443150 single base substitution T C intron_variant PRAD-CA 20 62450471 62450471 single base substitution A G intron_variant PRAD-CA 20 62458981 62458981 single base substitution C A intron_variant PRAD-CA 20 62463177 62463177 single base substitution A G upstream_gene_variant PRAD-UK 20 62386243 62386243 single base substitution C T intron_variant PRAD-UK 20 62392850 62392850 single base substitution A G intron_variant PRAD-UK 20 62393491 62393491 single base substitution A C intron_variant PRAD-UK 20 62395522 62395522 single base substitution G T intron_variant PRAD-UK 20 62396158 62396158 single base substitution T C intron_variant PRAD-UK 20 62400283 62400283 single base substitution A G intron_variant PRAD-UK 20 62403928 62403928 deletion of <=200bp G - downstream_gene_variant PRAD-UK 20 62403928 62403928 deletion of <=200bp G - intron_variant PRAD-UK 20 62438118 62438118 single base substitution C T intron_variant PRAD-UK 20 62454673 62454673 single base substitution C T intron_variant PRAD-UK 20 62455038 62455038 single base substitution G A intron_variant PRAD-US 20 62370021 62370021 single base substitution A G downstream_gene_variant PRAD-US 20 62384051 62384051 single base substitution C T synonymous_variant K462K 1386G>A READ-US 20 62374129 62374129 single base substitution C T downstream_gene_variant READ-US 20 62378349 62378349 single base substitution C T synonymous_variant E568E 1704G>A READ-US 20 62378364 62378364 single base substitution C T synonymous_variant A563A 1689G>A RECA-EU 20 62370805 62370805 single base substitution A G downstream_gene_variant RECA-EU 20 62372742 62372742 single base substitution C T downstream_gene_variant RECA-EU 20 62373204 62373204 single base substitution G C downstream_gene_variant RECA-EU 20 62383950 62383950 single base substitution C A intron_variant RECA-EU 20 62395676 62395676 single base substitution C G intron_variant RECA-EU 20 62396961 62396961 single base substitution T G intron_variant RECA-EU 20 62400157 62400157 single base substitution G A intron_variant RECA-EU 20 62412715 62412715 single base substitution G A intron_variant RECA-EU 20 62418585 62418585 single base substitution G T downstream_gene_variant RECA-EU 20 62418585 62418585 single base substitution G T intron_variant RECA-EU 20 62425682 62425682 single base substitution C T intron_variant RECA-EU 20 62425682 62425682 single base substitution C T upstream_gene_variant RECA-EU 20 62426296 62426296 single base substitution C T intron_variant RECA-EU 20 62426296 62426296 single base substitution C T upstream_gene_variant RECA-EU 20 62426297 62426297 single base substitution C A intron_variant RECA-EU 20 62426297 62426297 single base substitution C A upstream_gene_variant RECA-EU 20 62435920 62435920 single base substitution A T intron_variant RECA-EU 20 62437191 62437191 single base substitution C A intron_variant RECA-EU 20 62443615 62443615 single base substitution C G intron_variant RECA-EU 20 62451109 62451109 single base substitution C T intron_variant RECA-EU 20 62456028 62456028 single base substitution C G intron_variant RECA-EU 20 62460839 62460839 single base substitution A G intron_variant RECA-EU 20 62466733 62466733 single base substitution C T upstream_gene_variant SKCA-BR 20 62371403 62371403 single base substitution C T downstream_gene_variant SKCA-BR 20 62374483 62374483 single base substitution C G downstream_gene_variant SKCA-BR 20 62374623 62374623 single base substitution A C downstream_gene_variant SKCA-BR 20 62374957 62374957 single base substitution C T downstream_gene_variant SKCA-BR 20 62378926 62378926 single base substitution T C intron_variant SKCA-BR 20 62384916 62384916 single base substitution G A intron_variant SKCA-BR 20 62385891 62385891 single base substitution C T intron_variant SKCA-BR 20 62387811 62387811 single base substitution G A intron_variant SKCA-BR 20 62392268 62392268 single base substitution G A intron_variant SKCA-BR 20 62393018 62393018 single base substitution C T intron_variant SKCA-BR 20 62394483 62394483 single base substitution G A intron_variant SKCA-BR 20 62394891 62394891 single base substitution G A intron_variant SKCA-BR 20 62400048 62400048 single base substitution G A intron_variant SKCA-BR 20 62400915 62400915 single base substitution C T intron_variant SKCA-BR 20 62403437 62403437 single base substitution T C downstream_gene_variant SKCA-BR 20 62403437 62403437 single base substitution T C intron_variant SKCA-BR 20 62404075 62404077 deletion of <=200bp AAC - downstream_gene_variant SKCA-BR 20 62404075 62404077 deletion of <=200bp AAC - intron_variant SKCA-BR 20 62404075 62404095 deletion of <=200bp AACACACACACACACACACAC - downstream_gene_variant SKCA-BR 20 62404075 62404095 deletion of <=200bp AACACACACACACACACACAC - intron_variant SKCA-BR 20 62406029 62406029 insertion of <=200bp - CTG downstream_gene_variant SKCA-BR 20 62406029 62406029 insertion of <=200bp - CTG intron_variant SKCA-BR 20 62406139 62406139 insertion of <=200bp - CTCCGCCTGCCGGGT downstream_gene_variant SKCA-BR 20 62406139 62406139 insertion of <=200bp - CTCCGCCTGCCGGGT intron_variant SKCA-BR 20 62406176 62406176 single base substitution T C downstream_gene_variant SKCA-BR 20 62406176 62406176 single base substitution T C intron_variant SKCA-BR 20 62407451 62407451 single base substitution G A intron_variant SKCA-BR 20 62407451 62407451 single base substitution G A upstream_gene_variant SKCA-BR 20 62408400 62408490 deletion of <=200bp CCACACGCCACGGTTCCAGCACACGCCACGGTTCCACCACACGCCACGGTTCCAGCACACGCCACGGTTCCACCACACGCCACGGTTCCAG - intron_variant SKCA-BR 20 62408400 62408490 deletion of <=200bp CCACACGCCACGGTTCCAGCACACGCCACGGTTCCACCACACGCCACGGTTCCAGCACACGCCACGGTTCCACCACACGCCACGGTTCCAG - upstream_gene_variant SKCA-BR 20 62408607 62408607 single base substitution G A intron_variant SKCA-BR 20 62408607 62408607 single base substitution G A upstream_gene_variant SKCA-BR 20 62410578 62410582 deletion of <=200bp TTTAA - intron_variant SKCA-BR 20 62410578 62410582 deletion of <=200bp TTTAA - upstream_gene_variant SKCA-BR 20 62411551 62411551 single base substitution G A intron_variant SKCA-BR 20 62411551 62411551 single base substitution G A upstream_gene_variant SKCA-BR 20 62412258 62412258 single base substitution T G intron_variant SKCA-BR 20 62412258 62412258 single base substitution T G upstream_gene_variant SKCA-BR 20 62412521 62412521 single base substitution G A intron_variant SKCA-BR 20 62416590 62416593 deletion of <=200bp AAAG - downstream_gene_variant SKCA-BR 20 62416590 62416593 deletion of <=200bp AAAG - intron_variant SKCA-BR 20 62416591 62416593 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 20 62416591 62416593 deletion of <=200bp AAG - intron_variant SKCA-BR 20 62417798 62417798 single base substitution G A downstream_gene_variant SKCA-BR 20 62417798 62417798 single base substitution G A intron_variant SKCA-BR 20 62418780 62418780 single base substitution G A downstream_gene_variant SKCA-BR 20 62418780 62418780 single base substitution G A intron_variant SKCA-BR 20 62420053 62420053 single base substitution G A intron_variant SKCA-BR 20 62425197 62425197 single base substitution G A intron_variant SKCA-BR 20 62425197 62425197 single base substitution G A upstream_gene_variant SKCA-BR 20 62425923 62425923 single base substitution C T intron_variant SKCA-BR 20 62425923 62425923 single base substitution C T upstream_gene_variant SKCA-BR 20 62426393 62426393 single base substitution C T intron_variant SKCA-BR 20 62426393 62426393 single base substitution C T upstream_gene_variant SKCA-BR 20 62427732 62427732 single base substitution C A intron_variant SKCA-BR 20 62433377 62433377 single base substitution A C intron_variant SKCA-BR 20 62434024 62434024 single base substitution A C intron_variant SKCA-BR 20 62434403 62434403 single base substitution G A intron_variant SKCA-BR 20 62437371 62437371 single base substitution A G intron_variant SKCA-BR 20 62439541 62439541 single base substitution C G intron_variant SKCA-BR 20 62439542 62439542 single base substitution A G intron_variant SKCA-BR 20 62440526 62440526 single base substitution C T intron_variant SKCA-BR 20 62440665 62440665 single base substitution G A intron_variant SKCA-BR 20 62441057 62441057 single base substitution G A intron_variant SKCA-BR 20 62442487 62442487 single base substitution C T intron_variant SKCA-BR 20 62444977 62444977 single base substitution G A intron_variant SKCA-BR 20 62447196 62447227 deletion of <=200bp GCAGTGAGTGCAGGTGCAGGTGGGCGCAGGTC - intron_variant SKCA-BR 20 62447424 62447434 deletion of <=200bp AGTGGGCACAG - intron_variant SKCA-BR 20 62447441 62447441 single base substitution A G intron_variant SKCA-BR 20 62451796 62451796 single base substitution A T intron_variant SKCA-BR 20 62452537 62452537 insertion of <=200bp - CTTT intron_variant SKCA-BR 20 62452552 62452552 single base substitution C T intron_variant SKCA-BR 20 62452840 62452840 single base substitution T G intron_variant SKCA-BR 20 62454159 62454159 single base substitution G A intron_variant SKCA-BR 20 62455206 62455206 single base substitution G A intron_variant SKCA-BR 20 62455211 62455211 insertion of <=200bp - TTG intron_variant SKCA-BR 20 62455571 62455571 single base substitution G A intron_variant SKCA-BR 20 62456447 62456447 single base substitution A G intron_variant SKCA-BR 20 62458981 62458982 deletion of <=200bp CA - intron_variant SKCA-BR 20 62459002 62459002 single base substitution G A intron_variant SKCA-BR 20 62460034 62460034 single base substitution G A intron_variant SKCA-BR 20 62461068 62461068 single base substitution A G intron_variant SKCA-BR 20 62462121 62462121 single base substitution A G intron_variant SKCA-BR 20 62462161 62462161 single base substitution C G intron_variant SKCA-BR 20 62462683 62462683 single base substitution C T upstream_gene_variant SKCA-BR 20 62462966 62462966 single base substitution T G upstream_gene_variant SKCA-BR 20 62466925 62466925 single base substitution G C upstream_gene_variant SKCM-US 20 62370125 62370125 single base substitution T G downstream_gene_variant SKCM-US 20 62373328 62373328 single base substitution C T downstream_gene_variant SKCM-US 20 62373342 62373342 single base substitution C T downstream_gene_variant SKCM-US 20 62373358 62373358 single base substitution C T downstream_gene_variant SKCM-US 20 62373917 62373917 single base substitution C T downstream_gene_variant SKCM-US 20 62373945 62373945 single base substitution T A downstream_gene_variant SKCM-US 20 62374129 62374129 single base substitution C T downstream_gene_variant SKCM-US 20 62374338 62374338 single base substitution G A downstream_gene_variant SKCM-US 20 62378355 62378355 single base substitution C T synonymous_variant K566K 1698G>A SKCM-US 20 62378384 62378384 single base substitution G A missense_variant P557S 1669C>T SKCM-US 20 62378417 62378417 single base substitution C T missense_variant E546K 1636G>A SKCM-US 20 62378480 62378480 single base substitution C T missense_variant E525K 1573G>A SKCM-US 20 62384102 62384102 single base substitution G A synonymous_variant P445P 1335C>T SKCM-US 20 62407078 62407078 single base substitution C T exon_variant SKCM-US 20 62407078 62407078 single base substitution C T missense_variant G392D 1175G>A SKCM-US 20 62407158 62407158 single base substitution G C exon_variant SKCM-US 20 62407158 62407158 single base substitution G C synonymous_variant T365T 1095C>G SKCM-US 20 62407174 62407174 single base substitution G A exon_variant SKCM-US 20 62407174 62407174 single base substitution G A missense_variant A360V 1079C>T SKCM-US 20 62407230 62407230 single base substitution G A exon_variant SKCM-US 20 62407230 62407230 single base substitution G A synonymous_variant L341L 1023C>T SKCM-US 20 62407266 62407266 single base substitution C T exon_variant SKCM-US 20 62407266 62407266 single base substitution C T synonymous_variant E329E 987G>A SKCM-US 20 62407280 62407280 single base substitution C T exon_variant SKCM-US 20 62407280 62407280 single base substitution C T missense_variant D325N 973G>A SKCM-US 20 62421195 62421195 single base substitution G A exon_variant SKCM-US 20 62421195 62421195 single base substitution G A missense_variant P306S 916C>T SKCM-US 20 62421228 62421228 single base substitution G A missense_variant P295S 883C>T SKCM-US 20 62421228 62421228 single base substitution G A upstream_gene_variant SKCM-US 20 62421379 62421379 single base substitution A C synonymous_variant P244P 732T>G SKCM-US 20 62421379 62421379 single base substitution A C upstream_gene_variant SKCM-US 20 62421446 62421446 single base substitution C G missense_variant G222A 665G>C SKCM-US 20 62421446 62421446 single base substitution C G upstream_gene_variant SKCM-US 20 62421499 62421499 single base substitution C T synonymous_variant K204K 612G>A SKCM-US 20 62421499 62421499 single base substitution C T upstream_gene_variant SKCM-US 20 62421503 62421503 single base substitution G A missense_variant P203L 608C>T SKCM-US 20 62421503 62421503 single base substitution G A upstream_gene_variant SKCM-US 20 62421760 62421760 single base substitution G A synonymous_variant I117I 351C>T SKCM-US 20 62421760 62421760 single base substitution G A upstream_gene_variant SKCM-US 20 62421849 62421849 single base substitution C T missense_variant D88N 262G>A SKCM-US 20 62421849 62421849 single base substitution C T upstream_gene_variant SKCM-US 20 62421999 62421999 single base substitution C T missense_variant E38K 112G>A SKCM-US 20 62421999 62421999 single base substitution C T upstream_gene_variant SKCM-US 20 62422069 62422069 single base substitution G A synonymous_variant Y14Y 42C>T SKCM-US 20 62422069 62422069 single base substitution G A upstream_gene_variant STAD-US 20 62373333 62373333 single base substitution C T downstream_gene_variant STAD-US 20 62373369 62373369 single base substitution C T downstream_gene_variant STAD-US 20 62373487 62373487 single base substitution C T downstream_gene_variant STAD-US 20 62373773 62373773 single base substitution C T downstream_gene_variant STAD-US 20 62378374 62378374 single base substitution G A missense_variant A560V 1679C>T STAD-US 20 62378537 62378537 single base substitution C T missense_variant G506S 1516G>A STAD-US 20 62378595 62378595 single base substitution G A synonymous_variant A486A 1458C>T STAD-US 20 62384092 62384092 single base substitution C T missense_variant E449K 1345G>A STAD-US 20 62407046 62407046 insertion of <=200bp - C exon_variant STAD-US 20 62407046 62407046 insertion of <=200bp - C frameshift_variant A403G? STAD-US 20 62407049 62407049 single base substitution C A exon_variant STAD-US 20 62407049 62407049 single base substitution C A missense_variant G402W 1204G>T STAD-US 20 62407094 62407094 single base substitution C T exon_variant STAD-US 20 62407094 62407094 single base substitution C T missense_variant V387M 1159G>A STAD-US 20 62407140 62407140 single base substitution G A exon_variant STAD-US 20 62407140 62407140 single base substitution G A synonymous_variant R371R 1113C>T STAD-US 20 62407312 62407312 single base substitution G A exon_variant STAD-US 20 62407312 62407312 single base substitution G A missense_variant A314V 941C>T STAD-US 20 62421220 62421220 single base substitution C T synonymous_variant P297P 891G>A STAD-US 20 62421220 62421220 single base substitution C T upstream_gene_variant STAD-US 20 62421310 62421310 single base substitution C T synonymous_variant T267T 801G>A STAD-US 20 62421310 62421310 single base substitution C T upstream_gene_variant STAD-US 20 62421359 62421359 single base substitution A G missense_variant V251A 752T>C STAD-US 20 62421359 62421359 single base substitution A G upstream_gene_variant STAD-US 20 62421407 62421407 single base substitution G A missense_variant P235L 704C>T STAD-US 20 62421407 62421407 single base substitution G A upstream_gene_variant STAD-US 20 62421431 62421431 single base substitution C T missense_variant R227H 680G>A STAD-US 20 62421431 62421431 single base substitution C T upstream_gene_variant STAD-US 20 62421442 62421442 single base substitution G A synonymous_variant Y223Y 669C>T STAD-US 20 62421442 62421442 single base substitution G A upstream_gene_variant STAD-US 20 62421541 62421541 single base substitution G A synonymous_variant H190H 570C>T STAD-US 20 62421541 62421541 single base substitution G A upstream_gene_variant STAD-US 20 62421650 62421650 single base substitution G A missense_variant T154M 461C>T STAD-US 20 62421650 62421650 single base substitution G A upstream_gene_variant STAD-US 20 62421703 62421703 single base substitution G A synonymous_variant D136D 408C>T STAD-US 20 62421703 62421703 single base substitution G A upstream_gene_variant STAD-US 20 62421759 62421759 single base substitution C T missense_variant V118M 352G>A STAD-US 20 62421759 62421759 single base substitution C T upstream_gene_variant STAD-US 20 62421833 62421833 single base substitution G A missense_variant A93V 278C>T STAD-US 20 62421833 62421833 single base substitution G A upstream_gene_variant STAD-US 20 62422081 62422081 single base substitution G A synonymous_variant I10I 30C>T STAD-US 20 62422081 62422081 single base substitution G A upstream_gene_variant THCA-SA 20 62374389 62374389 single base substitution C T downstream_gene_variant THCA-SA 20 62421622 62421622 single base substitution A G synonymous_variant A163A 489T>C THCA-SA 20 62421622 62421622 single base substitution A G upstream_gene_variant THCA-SA 20 62422080 62422080 single base substitution T C missense_variant T11A 31A>G THCA-SA 20 62422080 62422080 single base substitution T C upstream_gene_variant THCA-US 20 62421407 62421407 single base substitution G A missense_variant P235L 704C>T THCA-US 20 62421407 62421407 single base substitution G A upstream_gene_variant UCEC-US 20 62407156 62407156 single base substitution G A exon_variant UCEC-US 20 62407156 62407156 single base substitution G A missense_variant A366V 1097C>T UCEC-US 20 62407312 62407312 single base substitution G A exon_variant UCEC-US 20 62407312 62407312 single base substitution G A missense_variant A314V 941C>T UCEC-US 20 62421318 62421318 single base substitution G A stop_gained Q265* 793C>T UCEC-US 20 62421318 62421318 single base substitution G A upstream_gene_variant UCEC-US 20 62421696 62421696 single base substitution C A missense_variant D139Y 415G>T UCEC-US 20 62421696 62421696 single base substitution C A upstream_gene_variant UCEC-US 20 62421748 62421748 single base substitution G A synonymous_variant C121C 363C>T UCEC-US 20 62421748 62421748 single base substitution G A upstream_gene_variant UCEC-US 20 62421760 62421760 single base substitution G A synonymous_variant I117I 351C>T UCEC-US 20 62421760 62421760 single base substitution G A upstream_gene_variant UCEC-US 20 62421796 62421796 single base substitution C T synonymous_variant V105V 315G>A UCEC-US 20 62421796 62421796 single base substitution C T upstream_gene_variant UCEC-US 20 62421893 62421893 single base substitution G A missense_variant T73M 218C>T UCEC-US 20 62421893 62421893 single base substitution G A upstream_gene_variant UCEC-US 20 62422079 62422079 single base substitution G A missense_variant T11M 32C>T UCEC-US 20 62422079 62422079 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HN_62739 COSM130281 c.1028G>A p.G343E Substitution - Missense 20:63775872-63775872 - 8066443 COSM3770884 c.1236G>A p.T412T Substitution - coding silent 20:63752848-63752848 - TCGA-F5-6861-01 COSM3549175 c.262G>A p.D88N Substitution - Missense 20:63790496-63790496 - T263 COSM4742196 c.304G>C p.V102L Substitution - Missense 20:63790454-63790454 - pfg282T COSM4756377 c.715G>A p.G239R Substitution - Missense 20:63790043-63790043 - HCC56 COSM1615884 c.1195C>T p.L399L Substitution - coding silent 20:63775705-63775705 - TCGA-CK-5916-01 COSM3693715 c.1057C>A p.L353I Substitution - Missense 20:63775843-63775843 - PT17_1 COSM5899210 c.578G>A p.G193E Substitution - Missense 20:63790180-63790180 - ESCC_142 COSM5643783 c.325G>T p.A109S Substitution - Missense 20:63790433-63790433 - PTC-7C COSM1566143 c.1704G>A p.E568E Substitution - coding silent 20:63746996-63746996 - HX19T COSM1615883 c.1222+7G>A p.? Unknown 20:63775671-63775671 - TCGA-60-2707-01 COSM724741 c.1679C>T p.A560V Substitution - Missense 20:63747021-63747021 - G6 COSM1191938 c.494G>T p.R165M Substitution - Missense 20:63790264-63790264 - 224 COSM4425646 c.160delC p.R54fs*52 Deletion - Frameshift 20:63790598-63790598 - SNU-C4 COSM4653313 c.1506C>T p.T502T Substitution - coding silent 20:63747194-63747194 - 2492710 COSM3549169 c.916C>T p.P306S Substitution - Missense 20:63789842-63789842 - C99 COSM4137158 c.442G>A p.A148T Substitution - Missense 20:63790316-63790316 - EV002-R7 COSM1162123 c.704C>T p.P235L Substitution - Missense 20:63790054-63790054 - HCT15 COSM4624327 c.1436G>A p.C479Y Substitution - Missense 20:63747264-63747264 - C086 COSM5541928 c.701C>T p.S234L Substitution - Missense 20:63790057-63790057 - TCGA-P4-A5E6-01 COSM3991858 c.1440C>A p.S480R Substitution - Missense 20:63747260-63747260 - TCGA-CM-5861-01 COSM1413192 c.909G>A p.S303S Substitution - coding silent 20:63789849-63789849 - TCGA-AA-3713-01 COSM1566143 c.1704G>A p.E568E Substitution - coding silent 20:63746996-63746996 - CHC2103T COSM4952540 c.1101G>T p.V367V Substitution - coding silent 20:63775799-63775799 - B77 COSM1751566 c.203A>T p.E68V Substitution - Missense 20:63790555-63790555 - HCC078T COSM5806151 c.174G>T p.T58T Substitution - coding silent 20:63790584-63790584 - PDA_005 COSM4998081 c.1304G>A p.R435Q Substitution - Missense 20:63752780-63752780 - TCGA-E2-A152-01 COSM444238 c.774G>C p.Q258H Substitution - Missense 20:63789984-63789984 - TCGA-CI-6624-01 COSM1566142 c.1689G>A p.A563A Substitution - coding silent 20:63747011-63747011 - TCGA-IR-A3LI-01 COSM3841549 c.921C>T p.F307F Substitution - coding silent 20:63789837-63789837 - TCGA-D3-A3MU-06 COSM3549171 c.732T>G p.P244P Substitution - coding silent 20:63790026-63790026 - TCGA-BQ-7048-01 COSM3991859 c.656G>C p.G219A Substitution - Missense 20:63790102-63790102 - Gp2D COSM2932793 c.951C>T p.S317S Substitution - coding silent 20:63775949-63775949 - TCGA-BR-4257-01 COSM724737 c.278C>T p.A93V Substitution - Missense 20:63790480-63790480 - TCGA-EE-A29D-06 COSM3549162 c.1573G>A p.E525K Substitution - Missense 20:63747127-63747127 - PCSI_0268_Pa_P_526 COSM4961669 c.552G>A p.S184S Substitution - coding silent 20:63790206-63790206 - 40M COSM1029184 c.351C>T p.I117I Substitution - coding silent 20:63790407-63790407 - LUAD-AEIUF COSM403253 c.95A>T p.D32V Substitution - Missense 20:63790663-63790663 - TCGA-CD-8524-01 COSM193525 c.461C>T p.T154M Substitution - Missense 20:63790297-63790297 - TCGA-66-2763-01 COSM724737 c.278C>T p.A93V Substitution - Missense 20:63790480-63790480 - TCGA-D3-A3C7-06 COSM3549173 c.612G>A p.K204K Substitution - coding silent 20:63790146-63790146 - pfg069T COSM4756378 c.686A>G p.K229R Substitution - Missense 20:63790072-63790072 - TCGA-CG-5726-01 COSM4100494 c.801G>A p.T267T Substitution - coding silent 20:63789957-63789957 - Pat_11_A COSM1029187 c.32C>T p.T11M Substitution - Missense 20:63790726-63790726 - TCGA-BR-8291-01 COSM1029180 c.941C>T p.A314V Substitution - Missense 20:63775959-63775959 - TCGA-BS-A0UV-01 COSM1029184 c.351C>T p.I117I Substitution - coding silent 20:63790407-63790407 - AOCS-130-1-0 COSM4137157 c.1599C>G p.P533P Substitution - coding silent 20:63747101-63747101 - TCGA-D1-A177-01 COSM1029178 c.1119G>A p.A373A Substitution - coding silent 20:63775781-63775781 - PASFXA COSM5005789 c.1342T>C p.C448R Substitution - Missense 20:63752742-63752742 - 587234 COSM1233157 c.409G>A p.A137T Substitution - Missense 20:63790349-63790349 - TCGA-AG-A002-01 COSM264768 c.33G>A p.T11T Substitution - coding silent 20:63790725-63790725 - TCGA-A5-A0GE-01 COSM1029185 c.315G>A p.V105V Substitution - coding silent 20:63790443-63790443 - 587306 COSM1233156 c.581G>A p.S194N Substitution - Missense 20:63790177-63790177 - Mx42 COSM32851 c.25G>T p.E9* Substitution - Nonsense 20:63790733-63790733 - TCGA-HC-A4ZV-01 COSM3673164 c.1386G>A p.K462K Substitution - coding silent 20:63752698-63752698 - LUAD_E01047 COSM390190 c.1693G>A p.D565N Substitution - Missense 20:63747007-63747007 - TCGA-B7-5816-01 COSM4100493 c.891G>A p.P297P Substitution - coding silent 20:63789867-63789867 - BD223T COSM1307642 c.438C>T p.I146I Substitution - coding silent 20:63790320-63790320 - cSCCP6 COSM137225 c.670G>A p.G224R Substitution - Missense 20:63790088-63790088 - DN11190 COSM2932815 c.367G>A p.D123N Substitution - Missense 20:63790391-63790391 - TCGA-EB-A431-01 COSM3549177 c.42C>T p.Y14Y Substitution - coding silent 20:63790716-63790716 - TCGA-DK-A1AA-01 COSM1307644 c.267C>G p.F89L Substitution - Missense 20:63790491-63790491 - TCGA-EI-6510-01 COSM4137158 c.442G>A p.A148T Substitution - Missense 20:63790316-63790316 - HCC168 COSM3707946 c.544G>T p.G182* Substitution - Nonsense 20:63790214-63790214 - TCGA-AA-A010-01 COSM286626 c.306C>A p.V102V Substitution - coding silent 20:63790452-63790452 - S00934 COSM5662836 c.1564G>T p.G522C Substitution - Missense 20:63747136-63747136 - TCGA-IH-A3EA-01 COSM3549160 c.1669C>T p.P557S Substitution - Missense 20:63747031-63747031 - RH18C COSM1413195 c.679C>T p.R227C Substitution - Missense 20:63790079-63790079 - TCGA-DK-A1A6-01 COSM1307643 c.408C>T p.D136D Substitution - coding silent 20:63790350-63790350 - TCGA-EE-A2GR-06 COSM3549169 c.916C>T p.P306S Substitution - Missense 20:63789842-63789842 - PCSI_0280_Pa_P_526 COSM4807676 c.447G>A p.S149S Substitution - coding silent 20:63790311-63790311 - TCGA-Q1-A5R2-01 COSM4850309 c.616G>A p.D206N Substitution - Missense 20:63790142-63790142 - Pat_49_B COSM5858355 c.284T>C p.L95P Substitution - Missense 20:63790474-63790474 - CSCC-31-T COSM3549160 c.1669C>T p.P557S Substitution - Missense 20:63747031-63747031 - TCGA-AG-A016-01 COSM2932811 c.506C>T p.P169L Substitution - Missense 20:63790252-63790252 - 2492708 COSM3549169 c.916C>T p.P306S Substitution - Missense 20:63789842-63789842 - TCGA-BR-4280-01 COSM4100492 c.1159G>A p.V387M Substitution - Missense 20:63775741-63775741 - EOPC-036_tumor_01 COSM5950909 c.1322C>T p.T441M Substitution - Missense 20:63752762-63752762 - I2L-P25-Tumor-Organoid COSM5366005 c.1222+1G>A p.? Unknown 20:63775677-63775677 - TCGA-28-5214-01 COSM3405289 c.233T>G p.V78G Substitution - Missense 20:63790525-63790525 - TCGA-D3-A1Q8-06 COSM3549163 c.1335C>T p.P445P Substitution - coding silent 20:63752749-63752749 - CSCC-27-T COSM4556128 c.67G>A p.E23K Substitution - Missense 20:63790691-63790691 - CSCC-38-T COSM4522171 c.1149G>T p.L383L Substitution - coding silent 20:63775751-63775751 - TCGA-G4-6628-01 COSM1413191 c.1113C>T p.R371R Substitution - coding silent 20:63775787-63775787 - TCGA-25-2401-01 COSM79109 c.595G>T p.E199* Substitution - Nonsense 20:63790163-63790163 - TCGA-A6-3810-01 COSM291443 c.481G>A p.V161M Substitution - Missense 20:63790277-63790277 - I2L-P28-Tumor-Organoid COSM5366037 c.1531G>A p.G511R Substitution - Missense 20:63747169-63747169 - TCGA-GF-A2C7-01 COSM3549168 c.987G>A p.E329E Substitution - coding silent 20:63775913-63775913 - CSCC-31-T COSM4572493 c.763T>G p.F255V Substitution - Missense 20:63789995-63789995 - TCGA-EE-A3AG-06 COSM3549165 c.1095C>G p.T365T Substitution - coding silent 20:63775805-63775805 - TCGA-AD-6889-01 COSM1413195 c.679C>T p.R227C Substitution - Missense 20:63790079-63790079 - CHC796T COSM4954142 c.1648G>A p.E550K Substitution - Missense 20:63747052-63747052 - CSCC-16-T COSM3549177 c.42C>T p.Y14Y Substitution - coding silent 20:63790716-63790716 - TCGA-HJ-7597-01 COSM4100497 c.570C>T p.H190H Substitution - coding silent 20:63790188-63790188 - CHC892T COSM4794779 c.1613C>T p.P538L Substitution - Missense 20:63747087-63747087 - TCGA-AD-6889-01 COSM1413189 c.1522G>T p.G508C Substitution - Missense 20:63747178-63747178 - TCGA-HU-A4GQ-01 COSM2932806 c.680G>A p.R227H Substitution - Missense 20:63790078-63790078 - LP6005409-DNA_E02 COSM4411539 c.972C>T p.S324S Substitution - coding silent 20:63775928-63775928 - sysucc-1397T COSM5474304 c.103G>A p.V35M Substitution - Missense 20:63790655-63790655 - TCGA-AA-3713-01 COSM1566142 c.1689G>A p.A563A Substitution - coding silent 20:63747011-63747011 - MO_1012 COSM5549250 c.736G>A p.A246T Substitution - Missense 20:63790022-63790022 - TCGA-FS-A1ZP-06 COSM1029184 c.351C>T p.I117I Substitution - coding silent 20:63790407-63790407 - CHC796T COSM4954142 c.1648G>A p.E550K Substitution - Missense 20:63747052-63747052 - S00831 COSM5660577 c.151G>T p.G51C Substitution - Missense 20:63790607-63790607 - ccRCC-34 COSM1659338 c.393C>G p.I131M Substitution - Missense 20:63790365-63790365 - CSCC-10-T COSM4529731 c.1638G>A p.E546E Substitution - coding silent 20:63747062-63747062 - ESCC_153 COSM5645716 c.958G>A p.E320K Substitution - Missense 20:63775942-63775942 - C058 COSM5525843 c.558C>T p.I186I Substitution - coding silent 20:63790200-63790200 - TCGA-AP-A059-01 COSM1029181 c.793C>T p.Q265* Substitution - Nonsense 20:63789965-63789965 - I2L-P28-Tumor-Biopsy COSM5366037 c.1531G>A p.G511R Substitution - Missense 20:63747169-63747169 - 25 COSM2932818 c.236C>T p.T79M Substitution - Missense 20:63790522-63790522 - TCGA-B5-A11H-01 COSM1029187 c.32C>T p.T11M Substitution - Missense 20:63790726-63790726 - T1240 COSM4742194 c.1263G>A p.P421P Substitution - coding silent 20:63752821-63752821 - YUSIV COSM5392629 c.1179C>T p.S393S Substitution - coding silent 20:63775721-63775721 - CSCC-37-T COSM4499313 c.539C>T p.S180F Substitution - Missense 20:63790219-63790219 - TCGA-HU-A4GQ-01 COSM724741 c.1679C>T p.A560V Substitution - Missense 20:63747021-63747021 - TCGA-GF-A6C9-06 COSM4901089 c.1698G>A p.K566K Substitution - coding silent 20:63747002-63747002 - CSCC-62-T COSM4471598 c.1729C>T p.P577S Substitution - Missense 20:63746971-63746971 - PT35 COSM5914335 c.590G>A p.G197E Substitution - Missense 20:63790168-63790168 - T3080 COSM4742195 c.1078G>A p.A360T Substitution - Missense 20:63775822-63775822 - HCC56T COSM1615884 c.1195C>T p.L399L Substitution - coding silent 20:63775705-63775705 - TCGA-EM-A1CT-01 COSM1162123 c.704C>T p.P235L Substitution - Missense 20:63790054-63790054 - Gp5D COSM2932793 c.951C>T p.S317S Substitution - coding silent 20:63775949-63775949 - TCGA-C5-A1BQ-01 COSM4842619 c.1603C>G p.L535V Substitution - Missense 20:63747097-63747097 - TCGA-D5-6540-01 COSM1413198 c.271T>C p.Y91H Substitution - Missense 20:63790487-63790487 - T21 COSM5169074 c.405G>A p.S135S Substitution - coding silent 20:63790353-63790353 - TCGA-IP-7968-01 COSM4100498 c.30C>T p.I10I Substitution - coding silent 20:63790728-63790728 - 8067508 COSM3770885 c.156C>A p.S52R Substitution - Missense 20:63790602-63790602 - BN42T COSM1615883 c.1222+7G>A p.? Unknown 20:63775671-63775671 - TCGA-HU-A4H8-01 COSM4100496 c.669C>T p.Y223Y Substitution - coding silent 20:63790089-63790089 - 1_PRE-TREATMENT COSM1721017 c.1359G>A p.K453K Substitution - coding silent 20:63752725-63752725 - YUROG COSM5392630 c.1031G>A p.G344E Substitution - Missense 20:63775869-63775869 - TCGA-EE-A2ML-06 COSM3549167 c.1023C>T p.L341L Substitution - coding silent 20:63775877-63775877 - TCGA-GN-A268-06 COSM3549164 c.1175G>A p.G392D Substitution - Missense 20:63775725-63775725 - OSCC-GB_00140111 COSM3713306 c.1004C>A p.A335E Substitution - Missense 20:63775896-63775896 - LUAD-S01357 COSM387264 c.375C>T p.I125I Substitution - coding silent 20:63790383-63790383 - TCGA-AP-A0LM-01 COSM1029180 c.941C>T p.A314V Substitution - Missense 20:63775959-63775959 - CSCC-10-T COSM4471638 c.1731C>T p.P577P Substitution - coding silent 20:63746969-63746969 - DLD1 COSM4624327 c.1436G>A p.C479Y Substitution - Missense 20:63747264-63747264 - TCGA-EE-A29S-06 COSM3549170 c.883C>T p.P295S Substitution - Missense 20:63789875-63789875 - CSCC-16-T COSM4499313 c.539C>T p.S180F Substitution - Missense 20:63790219-63790219 - 169T COSM1725847 c.830A>T p.E277V Substitution - Missense 20:63789928-63789928 - CSCC-41-T COSM4517729 c.405_406GG>AA p.D136N Substitution - Missense 20:63790352-63790353 - TCGA-A8-A06X-01 COSM5834015 c.183_184insA p.Q62fs*79 Insertion - Frameshift 20:63790574-63790575 - TCGA-AG-A002-01 COSM264769 c.11G>A p.R4Q Substitution - Missense 20:63790747-63790747 - TCGA-G2-A3VY-01 COSM3799775 c.709C>T p.Q237* Substitution - Nonsense 20:63790049-63790049 - TCGA-22-5473-01 COSM724739 c.929G>A p.R310Q Substitution - Missense 20:63789829-63789829 - SNU-175 COSM2932790 c.1036G>A p.A346T Substitution - Missense 20:63775864-63775864 - HCC107T COSM1615882 c.1367C>T p.T456M Substitution - Missense 20:63752717-63752717 - LP6005409-DNA_D02 COSM5034859 c.1074C>T p.D358D Substitution - coding silent 20:63775826-63775826 - TCGA-EE-A3AA-06 COSM3549174 c.608C>T p.P203L Substitution - Missense 20:63790150-63790150 - TCGA-CG-4437-01 COSM4100489 c.1458C>T p.A486A Substitution - coding silent 20:63747242-63747242 - TCGA-DA-A1HV-06 COSM3549161 c.1636G>A p.E546K Substitution - Missense 20:63747064-63747064 - TCGA-AA-3492-01 COSM1307642 c.438C>T p.I146I Substitution - coding silent 20:63790320-63790320 - HDC90 COSM2932780 c.1522G>A p.G508S Substitution - Missense 20:63747178-63747178 - MT-260-T2 COSM300928 c.462G>A p.T154T Substitution - coding silent 20:63790296-63790296 - TCGA-AA-3966-01 COSM273483 c.310G>A p.E104K Substitution - Missense 20:63790448-63790448 - HCC107 COSM1615882 c.1367C>T p.T456M Substitution - Missense 20:63752717-63752717 - C008 COSM5524230 c.1756G>A p.A586T Substitution - Missense 20:63746944-63746944 - TCGA-B5-A11H-01 COSM1029186 c.218C>T p.T73M Substitution - Missense 20:63790540-63790540 - TCGA-EB-A41A-01 COSM3549166 c.1079C>T p.A360V Substitution - Missense 20:63775821-63775821 - 1_RESISTANT COSM1721017 c.1359G>A p.K453K Substitution - coding silent 20:63752725-63752725 - TCGA-FW-A3R5-06 COSM3911842 c.973G>A p.D325N Substitution - Missense 20:63775927-63775927 - ESO-0001 COSM1270726 c.85G>A p.V29I Substitution - Missense 20:63790673-63790673 - TCGA-BR-4368-01 COSM4100495 c.752T>C p.V251A Substitution - Missense 20:63790006-63790006 - 18 COSM5745461 c.1394C>T p.T465M Substitution - Missense 20:63752690-63752690 - LOVO COSM4645406 c.1489C>T p.R497C Substitution - Missense 20:63747211-63747211 - CHC892T COSM4794779 c.1613C>T p.P538L Substitution - Missense 20:63747087-63747087 - HDC90 COSM4637395 c.1548C>G p.G516G Substitution - coding silent 20:63747152-63747152 - TCGA-63-5131-01 COSM724738 c.302A>T p.N101I Substitution - Missense 20:63790456-63790456 - TCGA-BT-A20X-01 COSM1307642 c.438C>T p.I146I Substitution - coding silent 20:63790320-63790320 - B77-Tumor COSM1751566 c.203A>T p.E68V Substitution - Missense 20:63790555-63790555 - PT36 COSM5916858 c.503C>T p.S168F Substitution - Missense 20:63790255-63790255 - 1N35-VS-1T35 COSM4974847 c.1197G>T p.L399L Substitution - coding silent 20:63775703-63775703 - TCGA-CG-4474-01 COSM1162123 c.704C>T p.P235L Substitution - Missense 20:63790054-63790054 - LOVO COSM2932800 c.871C>T p.R291W Substitution - Missense 20:63789887-63789887 - CN-AML-CR-28-Dx COSM1413197 c.489T>C p.A163A Substitution - coding silent 20:63790269-63790269 - TCGA-BR-6452-01 COSM4100491 c.1204G>T p.G402W Substitution - Missense 20:63775696-63775696 - CHC892T COSM4797940 c.175C>T p.L59F Substitution - Missense 20:63790583-63790583 - TCGA-BR-6852-01 COSM4100490 c.1345G>A p.E449K Substitution - Missense 20:63752739-63752739 - TCGA-AA-3663-01 COSM1413198 c.271T>C p.Y91H Substitution - Missense 20:63790487-63790487 - BD124T COSM5172119 c.838C>T p.R280W Substitution - Missense 20:63789920-63789920 - BN42 COSM1615883 c.1222+7G>A p.? Unknown 20:63775671-63775671 - TCGA-EB-A431-01 COSM3549175 c.262G>A p.D88N Substitution - Missense 20:63790496-63790496 - AOCS-146-1-9 COSM4137158 c.442G>A p.A148T Substitution - Missense 20:63790316-63790316 - 49M COSM3549167 c.1023C>T p.L341L Substitution - coding silent 20:63775877-63775877 - LUAD-F00121 COSM365779 c.781_782GG>TT p.G261>? Complex 20:63789976-63789977 - I2L-P7-Tumor-Organoid COSM4653313 c.1506C>T p.T502T Substitution - coding silent 20:63747194-63747194 - I2L-P19Ta-Tumor-Biopsy COSM5365905 c.358G>A p.A120T Substitution - Missense 20:63790400-63790400 - TCGA-AP-A0LM-01 COSM1029179 c.1097C>T p.A366V Substitution - Missense 20:63775803-63775803 - TCGA-CD-A4MG-01 COSM1307643 c.408C>T p.D136D Substitution - coding silent 20:63790350-63790350 - BD110T COSM1029186 c.218C>T p.T73M Substitution - Missense 20:63790540-63790540 - T3225 COSM3911842 c.973G>A p.D325N Substitution - Missense 20:63775927-63775927 - I2L-P19Ta-Tumor-Organoid COSM5365905 c.358G>A p.A120T Substitution - Missense 20:63790400-63790400 - XHDG03 COSM1413194 c.805C>T p.R269* Substitution - Nonsense 20:63789953-63789953 - YUGATOR COSM5392631 c.58G>A p.E20K Substitution - Missense 20:63790700-63790700 - 61 COSM5741955 c.1154C>T p.A385V Substitution - Missense 20:63775746-63775746 - 40M COSM137225 c.670G>A p.G224R Substitution - Missense 20:63790088-63790088 - ICGC_MB76 COSM3764897 c.837C>T p.V279V Substitution - coding silent 20:63789921-63789921 - STC232 COSM5057509 c.1688C>T p.A563V Substitution - Missense 20:63747012-63747012 - 002 COSM1162123 c.704C>T p.P235L Substitution - Missense 20:63790054-63790054 - HDC87 COSM4637020 c.1490G>A p.R497H Substitution - Missense 20:63747210-63747210 - T2197 COSM1029186 c.218C>T p.T73M Substitution - Missense 20:63790540-63790540 - TCGA-BR-6452-01 COSM4100488 c.1516G>A p.G506S Substitution - Missense 20:63747184-63747184 - SS6003305 COSM3414165 c.1573G>C p.E525Q Substitution - Missense 20:63747127-63747127 - CHC2103T COSM4952540 c.1101G>T p.V367V Substitution - coding silent 20:63775799-63775799 - 090T COSM1731281 c.109G>A p.V37M Substitution - Missense 20:63790649-63790649 - sysucc-880T COSM1029180 c.941C>T p.A314V Substitution - Missense 20:63775959-63775959 - TCGA-BR-7707-01 COSM4100497 c.570C>T p.H190H Substitution - coding silent 20:63790188-63790188 - 14T COSM3713306 c.1004C>A p.A335E Substitution - Missense 20:63775896-63775896 - TCGA-DK-A2I4-01 COSM3799774 c.774G>A p.Q258Q Substitution - coding silent 20:63789984-63789984 - BD205T COSM4100497 c.570C>T p.H190H Substitution - coding silent 20:63790188-63790188 - TCGA-EE-A2GR-06 COSM3549176 c.112G>A p.E38K Substitution - Missense 20:63790646-63790646 - EOPC-033_tumor COSM5950965 c.334C>A p.L112M Substitution - Missense 20:63790424-63790424 - TCGA-66-2795-01 COSM724740 c.1155C>T p.A385A Substitution - coding silent 20:63775745-63775745 - PTC-7C COSM1566142 c.1689G>A p.A563A Substitution - coding silent 20:63747011-63747011 - TCGA-G4-6311-01 COSM3758779 c.1635G>A p.A545A Substitution - coding silent 20:63747065-63747065 - TCGA-AA-A02O-01 COSM300928 c.462G>A p.T154T Substitution - coding silent 20:63790296-63790296 - TCGA-BH-A0B6-01 COSM3841549 c.921C>T p.F307F Substitution - coding silent 20:63789837-63789837 - TCGA-D3-A2JD-06 COSM3549172 c.665G>C p.G222A Substitution - Missense 20:63790093-63790093 - TCGA-AC-A23H-01 COSM3841548 c.1068G>A p.E356E Substitution - coding silent 20:63775832-63775832 - RMS111_ COSM2932776 c.1591G>A p.D531N Substitution - Missense 20:63747109-63747109 - CHC892T COSM4797940 c.175C>T p.L59F Substitution - Missense 20:63790583-63790583 - I2L-P20-Tumor-Biopsy COSM4742195 c.1078G>A p.A360T Substitution - Missense 20:63775822-63775822 - SNUH_G76_S1 COSM4418399 c.1149G>A p.L383L Substitution - coding silent 20:63775751-63775751 - LP6005690-DNA_D01 COSM4410194 c.345G>A p.T115T Substitution - coding silent 20:63790413-63790413 - TCGA-DM-A0X9-01 COSM1413190 c.1156G>A p.D386N Substitution - Missense 20:63775744-63775744 - AOCS-168-1-8 COSM291443 c.481G>A p.V161M Substitution - Missense 20:63790277-63790277 - SJHGG069_A COSM4969848 c.517C>T p.R173W Substitution - Missense 20:63790241-63790241 - HCC168T COSM3707946 c.544G>T p.G182* Substitution - Nonsense 20:63790214-63790214 - TCGA-B0-4852-01 COSM478402 c.938-1G>A p.? Unknown 20:63775963-63775963 - TCGA-AP-A059-01 COSM1029183 c.363C>T p.C121C Substitution - coding silent 20:63790395-63790395 - pfg019T COSM1413191 c.1113C>T p.R371R Substitution - coding silent 20:63775787-63775787 - 2492709 COSM3549169 c.916C>T p.P306S Substitution - Missense 20:63789842-63789842 - TCGA-F1-6874-01 COSM193526 c.352G>A p.V118M Substitution - Missense 20:63790406-63790406 - TCGA-AP-A059-01 COSM1029182 c.415G>T p.D139Y Substitution - Missense 20:63790343-63790343 - TCGA-CI-6624-01 COSM1566143 c.1704G>A p.E568E Substitution - coding silent 20:63746996-63746996 - TCGA-CA-6717-01 COSM1413196 c.588C>T p.Y196Y Substitution - coding silent 20:63790170-63790170 - TCGA-CG-5726-01 COSM1413191 c.1113C>T p.R371R Substitution - coding silent 20:63775787-63775787 - sysucc-1317T COSM4742194 c.1263G>A p.P421P Substitution - coding silent 20:63752821-63752821 - TCGA-29-1693-01 COSM1327496 c.105G>T p.V35V Substitution - coding silent 20:63790653-63790653 - TCGA-AZ-6607-01 COSM1413194 c.805C>T p.R269* Substitution - Nonsense 20:63789953-63789953 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.585028 20q13.33 614639

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V78G c.233T>G 20 62421878 GBM A C Synonymous p.P244P c.732T>G 20 62421379 CM A G Missense p.V251A c.752T>C 20 62421359 STAD A T Synonymous p.A260A c.780T>A 20 62421331 LUAD C A Missense p.G28C c.82G>T 20 62422029 LUAD C A Missense p.G452W c.1354G>T 20 62384083 STAD C A Missense p.R269L c.806G>T 20 62421305 CM C A Nonsense p.E199* c.595G>T 20 62421516 OV C G Missense p.G222A c.665G>C 20 62421446 CM C G Missense p.Q258H c.774G>C 20 62421337 BRCA C T Missense p.D32N c.94G>A 20 62422017 CM C T Missense p.E38K c.112G>A 20 62421999 CM C T Missense p.E449K c.1345G>A 20 62384092 STAD C T Missense p.E546K c.1636G>A 20 62378417 CM C T Missense p.E6K c.16G>A 20 62422095 CM C T Missense p.G343E c.1028G>A 20 62407225 HNSC C T Missense p.G344E c.1031G>A 20 62407222 CM C T Missense p.G392D c.1175G>A 20 62407078 CM C T Missense p.R310Q c.929G>A 20 62421182 LUSC C T Missense p.V118M c.352G>A 20 62421759 STAD C T Missense p.V161M c.481G>A 20 62421630 COREAD C T Missense p.V29I c.85G>A 20 62422026 ESCA C T Missense p.V387M c.1159G>A 20 62407094 STAD C T SpliceAcceptorSNV . c.938-1G>A 20 62407316 RCCC C T Synonymous p.A44A c.132G>A 20 62421979 LUAD C T Synonymous p.E329E c.987G>A 20 62407266 CM C T Synonymous p.K462K c.1386G>A 20 62384051 PRAD C T Synonymous p.P297P c.891G>A 20 62421220 STAD C T Synonymous p.Q258Q c.774G>A 20 62421337 BLCA C T Synonymous p.R173R c.519G>A 20 62421592 CM C T Synonymous p.T154T c.462G>A 20 62421649 COREAD C T Synonymous p.V105V c.315G>A 20 62421796 UCEC G A Missense p.A560V c.1679C>T 20 62378374 LUSC G A Missense p.A93V c.278C>T 20 62421833 LUSC G A Missense p.A93V c.278C>T 20 62421833 STAD G A Missense p.P203L c.608C>T 20 62421503 CM G A Missense p.P235L c.704C>T 20 62421407 STAD G A Missense p.P235L c.704C>T 20 62421407 THCA G A Missense p.P295S c.883C>T 20 62421228 CM G A Missense p.P306S c.916C>T 20 62421195 CM G A Missense p.P447L c.1340C>T 20 62384097 CM G A Missense p.P557S c.1669C>T 20 62378384 CM G A Missense p.S107L c.320C>T 20 62421791 CM G A Missense p.T11M c.32C>T 20 62422079 UCEC G A Missense p.T73M c.218C>T 20 62421893 UCEC G A Synonymous p.A385A c.1155C>T 20 62407098 LUSC G A Synonymous p.A486A c.1458C>T 20 62378595 STAD G A Synonymous p.D136D c.408C>T 20 62421703 BLCA G A Synonymous p.D248D c.744C>T 20 62421367 HNSC G A Synonymous p.D391D c.1173C>T 20 62407080 LUAD G A Synonymous p.I117I c.351C>T 20 62421760 CM G A Synonymous p.I146I c.438C>T 20 62421673 BLCA G A Synonymous p.L341L c.1023C>T 20 62407230 CM G A Synonymous p.P445P c.1335C>T 20 62384102 CM G A Synonymous p.R371R c.1113C>T 20 62407140 STAD G A Synonymous p.S298S c.894C>T 20 62421217 CM G C Missense p.F89L c.267C>G 20 62421844 BLCA G C Missense p.I125M c.375C>G 20 62421736 HNSC G C Missense p.I167M c.501C>G 20 62421610 STAD G C Missense p.P524A c.1570C>G 20 62378483 HNSC G C Synonymous p.T365T c.1095C>G 20 62407158 CM G T 3-UTRSNV . c.1767+2559C>A 20 62375727 HC G T Missense p.S212Y c.635C>A 20 62421476 BRCA G T Missense p.T115K c.344C>A 20 62421767 LUAD T A Missense p.N101I c.302A>T 20 62421809 LUSC T C Missense p.N369S c.1106A>G 20 62407147 CM