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 8 124095030 124095030 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr8:124095030G>C c.313G>C c.(313-315)Gat>Cat p.D105H BLCA 8 124096542 124096542 + Missense_Mutation SNP A A G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 g.chr8:124096542A>G c.481A>G c.(481-483)Aga>Gga p.R161G BLCA 8 124109637 124109637 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 g.chr8:124109637C>T c.787C>T c.(787-789)Cat>Tat p.H263Y BLCA 8 124109655 124109655 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr8:124109655G>C c.805G>C c.(805-807)Gat>Cat p.D269H BLCA 8 124140692 124140692 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr8:124140692G>C c.2056G>C c.(2056-2058)Gac>Cac p.D686H BLCA 8 124140747 124140747 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr8:124140747G>C c.2111G>C c.(2110-2112)aGa>aCa p.R704T BLCA 8 124141359 124141359 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr8:124141359A>T c.2171A>T c.(2170-2172)gAa>gTa p.E724V BLCA 8 124146406 124146406 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr8:124146406G>C c.2459G>C c.(2458-2460)aGa>aCa p.R820T BLCA 8 124153062 124153062 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr8:124153062G>A c.2561G>A c.(2560-2562)aGa>aAa p.R854K BLCA 8 124154594 124154594 + Silent SNP A A G TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr8:124154594A>G c.2733A>G c.(2731-2733)ctA>ctG p.L911L BLCA 8 124154644 124154644 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr8:124154644G>C c.2783G>C c.(2782-2784)aGa>aCa p.R928T BRCA 8 124096492 124096494 + In_Frame_Del DEL CTT CTT - TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 g.chr8:124096492_124096494delCTT c.431_433delCTT c.(430-435)acttct>act p.S146del BRCA 8 124105925 124105925 + Missense_Mutation SNP A A G TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr8:124105925A>G c.614A>G c.(613-615)cAa>cGa p.Q205R BRCA 8 124113134 124113134 + Nonsense_Mutation SNP G G T TCGA-EW-A1OY-01A-11D-A142-09 TCGA-EW-A1OY-10A-01W-A187-09 g.chr8:124113134G>T c.919G>T c.(919-921)Gaa>Taa p.E307* BRCA 8 124117616 124117616 + Missense_Mutation SNP G G A TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr8:124117616G>A c.1121G>A c.(1120-1122)aGa>aAa p.R374K BRCA 8 124132397 124132397 + Silent SNP C C T TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 g.chr8:124132397C>T c.1539C>T c.(1537-1539)ctC>ctT p.L513L BRCA 8 124132400 124132400 + Silent SNP C C T TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 g.chr8:124132400C>T c.1542C>T c.(1540-1542)atC>atT p.I514I BRCA 8 124138797 124138797 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr8:124138797G>C c.1754G>C c.(1753-1755)aGa>aCa p.R585T BRCA 8 124141389 124141389 + Missense_Mutation SNP G G A TCGA-BH-A0EE-01A-11W-A050-09 TCGA-BH-A0EE-10A-01W-A055-09 g.chr8:124141389G>A c.2201G>A c.(2200-2202)cGt>cAt p.R734H BRCA 8 124154635 124154635 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 g.chr8:124154635G>T c.2774G>T c.(2773-2775)aGg>aTg p.R925M BRCA 8 124162367 124162367 + Splice_Site SNP G G A TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 g.chr8:124162367G>A c.3066G>A c.(3064-3066)caG>caA p.Q1022Q BRCA 8 124164049 124164049 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr8:124164049C>G c.3071C>G c.(3070-3072)tCt>tGt p.S1024C CESC 8 124140520 124140521 + Splice_Site INS - - T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 g.chr8:124140520_124140521insT c.e14-1 CESC 8 124140521 124140521 + Splice_Site DEL T T - TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 g.chr8:124140521delT c.1885delT c.(1885-1887)ttt>tt p.F631fs CESC 8 124140567 124140567 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr8:124140567G>A c.1931G>A c.(1930-1932)aGa>aAa p.R644K CESC 8 124146362 124146362 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr8:124146362G>C c.2415G>C c.(2413-2415)atG>atC p.M805I COAD 8 124096454 124096454 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:124096454G>A c.393G>A c.(391-393)tcG>tcA p.S131S COAD 8 124121587 124121587 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:124121587C>T c.1240C>T c.(1240-1242)Cgt>Tgt p.R414C COAD 8 124121727 124121727 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr8:124121727C>T c.1303C>T c.(1303-1305)Cgc>Tgc p.R435C COAD 8 124121762 124121762 + Silent SNP G G T TCGA-AA-3875-01A-01W-0900-09 TCGA-AA-3875-10A-01W-0902-09 g.chr8:124121762G>T c.1338G>T c.(1336-1338)gcG>gcT p.A446A COAD 8 124132413 124132413 + Missense_Mutation SNP A A T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:124132413A>T c.1555A>T c.(1555-1557)Att>Ttt p.I519F COAD 8 124146369 124146369 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:124146369C>T c.2422C>T c.(2422-2424)Cga>Tga p.R808* COAD 8 124153041 124153041 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr8:124153041G>A c.2540G>A c.(2539-2541)cGa>cAa p.R847Q COAD 8 124154517 124154517 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:124154517T>G c.2656T>G c.(2656-2658)Ttg>Gtg p.L886V COAD 8 124164093 124164093 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:124164093C>A c.3115C>A c.(3115-3117)Ctt>Att p.L1039I COAD 8 124164142 124164142 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr8:124164142G>A c.3164G>A c.(3163-3165)cGt>cAt p.R1055H COADREAD 8 124096454 124096454 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr8:124096454G>A c.393G>A c.(391-393)tcG>tcA p.S131S COADREAD 8 124121587 124121587 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr8:124121587C>T c.1240C>T c.(1240-1242)Cgt>Tgt p.R414C COADREAD 8 124121727 124121727 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr8:124121727C>T c.1303C>T c.(1303-1305)Cgc>Tgc p.R435C COADREAD 8 124121762 124121762 + Silent SNP G G T TCGA-AA-3875-01A-01W-0900-09 TCGA-AA-3875-10A-01W-0902-09 g.chr8:124121762G>T c.1338G>T c.(1336-1338)gcG>gcT p.A446A COADREAD 8 124132413 124132413 + Missense_Mutation SNP A A T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:124132413A>T c.1555A>T c.(1555-1557)Att>Ttt p.I519F COADREAD 8 124146369 124146369 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:124146369C>T c.2422C>T c.(2422-2424)Cga>Tga p.R808* COADREAD 8 124153002 124153002 + Splice_Site SNP A A T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:124153002A>T c.2501A>T c.(2500-2502)aAt>aTt p.N834I COADREAD 8 124153041 124153041 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr8:124153041G>A c.2540G>A c.(2539-2541)cGa>cAa p.R847Q COADREAD 8 124154517 124154517 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:124154517T>G c.2656T>G c.(2656-2658)Ttg>Gtg p.L886V COADREAD 8 124164093 124164093 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:124164093C>A c.3115C>A c.(3115-3117)Ctt>Att p.L1039I COADREAD 8 124164142 124164142 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr8:124164142G>A c.3164G>A c.(3163-3165)cGt>cAt p.R1055H ESCA 8 124089435 124089435 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 g.chr8:124089435C>T c.162C>T c.(160-162)ggC>ggT p.G54G ESCA 8 124094947 124094947 + Missense_Mutation SNP A A G TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr8:124094947A>G c.230A>G c.(229-231)aAt>aGt p.N77S ESCA 8 124140521 124140521 + Splice_Site DEL T T - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 g.chr8:124140521delT c.1885delT c.(1885-1887)ttt>tt p.F631fs ESCA 8 124140537 124140537 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr8:124140537G>A c.1901G>A c.(1900-1902)cGg>cAg p.R634Q ESCA 8 124153106 124153106 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr8:124153106G>T c.2605G>T c.(2605-2607)Gaa>Taa p.E869* ESCA 8 124154635 124154635 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr8:124154635G>T c.2774G>T c.(2773-2775)aGg>aTg p.R925M ESCA 8 124162324 124162324 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr8:124162324C>G c.3023C>G c.(3022-3024)aCc>aGc p.T1008S GBM 8 124109565 124109565 + Missense_Mutation SNP C C T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 g.chr8:124109565C>T c.715C>T c.(715-717)Cat>Tat p.H239Y GBM 8 124113069 124113069 + Missense_Mutation SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 g.chr8:124113069A>G c.854A>G c.(853-855)gAt>gGt p.D285G GBM 8 124140520 124140521 + Splice_Site INS - - T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 g.chr8:124140520_124140521insT c.e14-1 GBMLGG 8 124105886 124105886 + Frame_Shift_Del DEL T T - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr8:124105886delT c.575delT c.(574-576)attfs p.I192fs GBMLGG 8 124109565 124109565 + Missense_Mutation SNP C C T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 g.chr8:124109565C>T c.715C>T c.(715-717)Cat>Tat p.H239Y GBMLGG 8 124113069 124113069 + Missense_Mutation SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 g.chr8:124113069A>G c.854A>G c.(853-855)gAt>gGt p.D285G GBMLGG 8 124117596 124117596 + Missense_Mutation SNP G G T TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr8:124117596G>T c.1101G>T c.(1099-1101)aaG>aaT p.K367N GBMLGG 8 124117638 124117638 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:124117638T>C c.1143T>C c.(1141-1143)tcT>tcC p.S381S GBMLGG 8 124140520 124140521 + Splice_Site INS - - T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 g.chr8:124140520_124140521insT c.e14-1 HNSC 8 124096419 124096419 + Missense_Mutation SNP A A T TCGA-UF-A7JD-01A-11D-A34J-08 TCGA-UF-A7JD-10A-01D-A34M-08 g.chr8:124096419A>T c.358A>T c.(358-360)Agc>Tgc p.S120C HNSC 8 124105863 124105863 + Silent SNP C C T TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr8:124105863C>T c.552C>T c.(550-552)ctC>ctT p.L184L HNSC 8 124109599 124109599 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr8:124109599G>C c.749G>C c.(748-750)aGa>aCa p.R250T HNSC 8 124121584 124121584 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:124121584A>G c.1237A>G c.(1237-1239)Aag>Gag p.K413E HNSC 8 124138344 124138344 + Missense_Mutation SNP A A G TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 g.chr8:124138344A>G c.1619A>G c.(1618-1620)aAt>aGt p.N540S HNSC 8 124138784 124138784 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr8:124138784G>C c.1741G>C c.(1741-1743)Gaa>Caa p.E581Q HNSC 8 124140520 124140521 + Splice_Site INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr8:124140520_124140521insT c.e14-1 HNSC 8 124140671 124140671 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr8:124140671C>A c.2035C>A c.(2035-2037)Caa>Aaa p.Q679K HNSC 8 124156981 124156981 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:124156981T>C c.2860T>C c.(2860-2862)Ttc>Ctc p.F954L HNSC 8 124156985 124156985 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 g.chr8:124156985G>A c.2864G>A c.(2863-2865)cGt>cAt p.R955H KIPAN 8 124109586 124109586 + Silent SNP A A C TCGA-G7-A8LD-01A-11D-A35Z-10 TCGA-G7-A8LD-10A-01D-A35Z-10 g.chr8:124109586A>C c.736A>C c.(736-738)Agg>Cgg p.R246R KIPAN 8 124138304 124138304 + Missense_Mutation SNP T T A TCGA-CZ-4853-01A-01D-1429-08 TCGA-CZ-4853-11A-01D-1429-08 g.chr8:124138304T>A c.1579T>A c.(1579-1581)Tgt>Agt p.C527S KIPAN 8 124154514 124154514 + Missense_Mutation SNP A A T TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr8:124154514A>T c.2653A>T c.(2653-2655)Aat>Tat p.N885Y KIRC 8 124138304 124138304 + Missense_Mutation SNP T T A TCGA-CZ-4853-01A-01D-1429-08 TCGA-CZ-4853-11A-01D-1429-08 g.chr8:124138304T>A c.1579T>A c.(1579-1581)Tgt>Agt p.C527S KIRP 8 124109586 124109586 + Silent SNP A A C TCGA-G7-A8LD-01A-11D-A35Z-10 TCGA-G7-A8LD-10A-01D-A35Z-10 g.chr8:124109586A>C c.736A>C c.(736-738)Agg>Cgg p.R246R KIRP 8 124154514 124154514 + Missense_Mutation SNP A A T TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr8:124154514A>T c.2653A>T c.(2653-2655)Aat>Tat p.N885Y LGG 8 124105886 124105886 + Frame_Shift_Del DEL T T - TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr8:124105886delT c.575delT c.(574-576)attfs p.I192fs LGG 8 124117596 124117596 + Missense_Mutation SNP G G T TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr8:124117596G>T c.1101G>T c.(1099-1101)aaG>aaT p.K367N LGG 8 124117638 124117638 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:124117638T>C c.1143T>C c.(1141-1143)tcT>tcC p.S381S LIHC 8 124089437 124089437 + Missense_Mutation SNP A A C TCGA-CC-A9FW-01A-11D-A36X-10 TCGA-CC-A9FW-10A-01D-A370-10 g.chr8:124089437A>C c.164A>C c.(163-165)gAc>gCc p.D55A LUAD 8 124089411 124089411 + Missense_Mutation SNP G G C TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr8:124089411G>C c.138G>C c.(136-138)ttG>ttC p.L46F LUAD 8 124105846 124105846 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr8:124105846T>C c.535T>C c.(535-537)Tta>Cta p.L179L LUAD 8 124109530 124109530 + Missense_Mutation SNP G G A TCGA-55-8204-01A-11D-2238-08 TCGA-55-8204-10A-01D-2238-08 g.chr8:124109530G>A c.680G>A c.(679-681)cGa>cAa p.R227Q LUAD 8 124109635 124109635 + Missense_Mutation SNP G G T TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr8:124109635G>T c.785G>T c.(784-786)cGc>cTc p.R262L LUAD 8 124109655 124109655 + Missense_Mutation SNP G G C TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr8:124109655G>C c.805G>C c.(805-807)Gat>Cat p.D269H LUAD 8 124113096 124113096 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr8:124113096A>C c.881A>C c.(880-882)cAg>cCg p.Q294P LUAD 8 124132400 124132400 + Silent SNP C C T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr8:124132400C>T c.1542C>T c.(1540-1542)atC>atT p.I514I LUAD 8 124132407 124132407 + Missense_Mutation SNP G G C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr8:124132407G>C c.1549G>C c.(1549-1551)Gaa>Caa p.E517Q LUAD 8 124138357 124138357 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr8:124138357G>C c.1632G>C c.(1630-1632)atG>atC p.M544I LUAD 8 124138862 124138862 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr8:124138862G>A c.1819G>A c.(1819-1821)Gtt>Att p.V607I LUAD 8 124140520 124140521 + Splice_Site INS - - T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 g.chr8:124140520_124140521insT c.e14-1 LUAD 8 124140520 124140521 + Splice_Site INS - - T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 g.chr8:124140520_124140521insT c.e14-1 LUAD 8 124140704 124140704 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr8:124140704C>G c.2068C>G c.(2068-2070)Cag>Gag p.Q690E LUAD 8 124141352 124141352 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr8:124141352G>A c.2164G>A c.(2164-2166)Gaa>Aaa p.E722K LUAD 8 124141397 124141397 + Missense_Mutation SNP G G A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr8:124141397G>A c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K LUAD 8 124156985 124156985 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 g.chr8:124156985G>A c.2864G>A c.(2863-2865)cGt>cAt p.R955H LUAD 8 124162330 124162330 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr8:124162330A>T c.3029A>T c.(3028-3030)cAa>cTa p.Q1010L LUSC 8 124132320 124132320 + Missense_Mutation SNP T T A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 g.chr8:124132320T>A c.1462T>A c.(1462-1464)Tct>Act p.S488T LUSC 8 124132346 124132347 + Nonsense_Mutation DNP TC TC AT TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr8:124132346_124132347TC>AT c.1488_1489TC>AT c.(1486-1491)taTCtt>taATtt p.496_497YL>*F LUSC 8 124140744 124140744 + Missense_Mutation SNP T T C TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr8:124140744T>C c.2108T>C c.(2107-2109)tTa>tCa p.L703S LUSC 8 124146370 124146370 + Missense_Mutation SNP G G T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr8:124146370G>T c.2423G>T c.(2422-2424)cGa>cTa p.R808L LUSC 8 124146371 124146371 + Silent SNP A A T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr8:124146371A>T c.2424A>T c.(2422-2424)cgA>cgT p.R808R LUSC 8 124157029 124157029 + Missense_Mutation SNP A A G TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chr8:124157029A>G c.2908A>G c.(2908-2910)Aga>Gga p.R970G LUSC 8 124157050 124157050 + Nonsense_Mutation SNP G G T TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chr8:124157050G>T c.2929G>T c.(2929-2931)Gag>Tag p.E977* PAAD 8 124138748 124138748 + Splice_Site SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:124138748C>A c.1705C>A c.(1705-1707)Cta>Ata p.L569I PAAD 8 124140520 124140521 + Splice_Site INS - - T TCGA-3A-A9IB-01A-21D-A397-08 TCGA-3A-A9IB-10A-01D-A39A-08 g.chr8:124140520_124140521insT c.e14-1 PAAD 8 124140520 124140521 + Splice_Site INS - - T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr8:124140520_124140521insT c.e14-1 PAAD 8 124140520 124140521 + Splice_Site INS - - T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 g.chr8:124140520_124140521insT c.e14-1 PAAD 8 124140520 124140521 + Splice_Site INS - - T TCGA-IB-A6UF-01A-23D-A33T-08 TCGA-IB-A6UF-10A-01D-A33W-08 g.chr8:124140520_124140521insT c.e14-1 PCPG 8 124146352 124146352 + Splice_Site SNP A A G TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 g.chr8:124146352A>G c.e17-1 PRAD 8 124089435 124089435 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr8:124089435C>T c.162C>T c.(160-162)ggC>ggT p.G54G PRAD 8 124140520 124140521 + Splice_Site INS - - T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 g.chr8:124140520_124140521insT c.e14-1 READ 8 124153002 124153002 + Splice_Site SNP A A T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:124153002A>T c.2501A>T c.(2500-2502)aAt>aTt p.N834I SARC 8 124132405 124132405 + Missense_Mutation SNP T T C TCGA-Z4-AAPF-01A-11D-A38Z-09 TCGA-Z4-AAPF-10A-01D-A38Z-09 g.chr8:124132405T>C c.1547T>C c.(1546-1548)tTt>tCt p.F516S SKCM 8 124096405 124096405 + Missense_Mutation SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr8:124096405C>T c.344C>T c.(343-345)aCc>aTc p.T115I SKCM 8 124096406 124096406 + Silent SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr8:124096406C>T c.345C>T c.(343-345)acC>acT p.T115T SKCM 8 124096453 124096453 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr8:124096453C>T c.392C>T c.(391-393)tCg>tTg p.S131L SKCM 8 124105836 124105836 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr8:124105836C>T c.525C>T c.(523-525)ttC>ttT p.F175F SKCM 8 124105884 124105884 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr8:124105884C>T c.573C>T c.(571-573)tcC>tcT p.S191S SKCM 8 124113183 124113183 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr8:124113183C>T c.968C>T c.(967-969)tCt>tTt p.S323F SKCM 8 124117616 124117616 + Missense_Mutation SNP G G A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr8:124117616G>A c.1121G>A c.(1120-1122)aGa>aAa p.R374K SKCM 8 124138427 124138427 + Missense_Mutation SNP C C A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr8:124138427C>A c.1702C>A c.(1702-1704)Cag>Aag p.Q568K SKCM 8 124138819 124138819 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr8:124138819C>T c.1776C>T c.(1774-1776)ttC>ttT p.F592F SKCM 8 124140536 124140536 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr8:124140536C>T c.1900C>T c.(1900-1902)Cgg>Tgg p.R634W SKCM 8 124140586 124140586 + Missense_Mutation SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr8:124140586G>A c.1950G>A c.(1948-1950)atG>atA p.M650I SKCM 8 124154599 124154599 + Missense_Mutation SNP G G T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr8:124154599G>T c.2738G>T c.(2737-2739)cGa>cTa p.R913L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 124085037 124085037 single base substitution G A 5_prime_UTR_variant BLCA-CN 8 124085037 124085037 single base substitution G A exon_variant BLCA-CN 8 124085037 124085037 single base substitution G A intron_variant BLCA-CN 8 124085037 124085037 single base substitution G A missense_variant E10K 28G>A BLCA-CN 8 124085037 124085037 single base substitution G A upstream_gene_variant BLCA-US 8 124095030 124095030 single base substitution G C 5_prime_UTR_variant BLCA-US 8 124095030 124095030 single base substitution G C exon_variant BLCA-US 8 124095030 124095030 single base substitution G C intron_variant BLCA-US 8 124095030 124095030 single base substitution G C missense_variant D105H 313G>C BLCA-US 8 124095030 124095030 single base substitution G C missense_variant D95H 283G>C BLCA-US 8 124109655 124109655 single base substitution G C 3_prime_UTR_variant BLCA-US 8 124109655 124109655 single base substitution G C downstream_gene_variant BLCA-US 8 124109655 124109655 single base substitution G C exon_variant BLCA-US 8 124109655 124109655 single base substitution G C intron_variant BLCA-US 8 124109655 124109655 single base substitution G C missense_variant D164H 490G>C BLCA-US 8 124109655 124109655 single base substitution G C missense_variant D269H 805G>C BLCA-US 8 124109655 124109655 single base substitution G C missense_variant D72H 214G>C BLCA-US 8 124109655 124109655 single base substitution G C upstream_gene_variant BLCA-US 8 124146406 124146406 single base substitution G C 3_prime_UTR_variant BLCA-US 8 124146406 124146406 single base substitution G C downstream_gene_variant BLCA-US 8 124146406 124146406 single base substitution G C intron_variant BLCA-US 8 124146406 124146406 single base substitution G C missense_variant R374T 1121G>C BLCA-US 8 124146406 124146406 single base substitution G C missense_variant R697T 2090G>C BLCA-US 8 124146406 124146406 single base substitution G C missense_variant R715T 2144G>C BLCA-US 8 124146406 124146406 single base substitution G C missense_variant R820T 2459G>C BLCA-US 8 124153062 124153062 single base substitution G A 3_prime_UTR_variant BLCA-US 8 124153062 124153062 single base substitution G A exon_variant BLCA-US 8 124153062 124153062 single base substitution G A missense_variant R408K 1223G>A BLCA-US 8 124153062 124153062 single base substitution G A missense_variant R731K 2192G>A BLCA-US 8 124153062 124153062 single base substitution G A missense_variant R749K 2246G>A BLCA-US 8 124153062 124153062 single base substitution G A missense_variant R823K 2468G>A BLCA-US 8 124153062 124153062 single base substitution G A missense_variant R854K 2561G>A BRCA-EU 8 124049247 124049247 single base substitution G A upstream_gene_variant BRCA-EU 8 124049863 124049863 single base substitution G A upstream_gene_variant BRCA-EU 8 124050198 124050198 single base substitution G C upstream_gene_variant BRCA-EU 8 124050341 124050341 single base substitution C A upstream_gene_variant BRCA-EU 8 124050906 124050906 single base substitution G A upstream_gene_variant BRCA-EU 8 124051891 124051891 single base substitution G A upstream_gene_variant BRCA-EU 8 124052006 124052006 single base substitution G A upstream_gene_variant BRCA-EU 8 124052408 124052408 single base substitution G A upstream_gene_variant BRCA-EU 8 124052538 124052538 single base substitution C G upstream_gene_variant BRCA-EU 8 124053009 124053009 single base substitution G A upstream_gene_variant BRCA-EU 8 124053035 124053035 single base substitution T G upstream_gene_variant BRCA-EU 8 124054733 124054733 single base substitution G A intron_variant BRCA-EU 8 124054922 124054922 single base substitution C T intron_variant BRCA-EU 8 124055239 124055239 single base substitution G C intron_variant BRCA-EU 8 124055426 124055426 single base substitution G A intron_variant BRCA-EU 8 124055802 124055802 single base substitution C G intron_variant BRCA-EU 8 124056062 124056062 single base substitution T C intron_variant BRCA-EU 8 124056425 124056425 single base substitution G A intron_variant BRCA-EU 8 124056656 124056656 single base substitution C T intron_variant BRCA-EU 8 124056730 124056730 single base substitution T A intron_variant BRCA-EU 8 124056885 124056885 single base substitution A C intron_variant BRCA-EU 8 124056958 124056958 single base substitution G T intron_variant BRCA-EU 8 124056966 124056966 single base substitution G A intron_variant BRCA-EU 8 124057051 124057051 single base substitution T A intron_variant BRCA-EU 8 124057857 124057857 single base substitution C T intron_variant BRCA-EU 8 124058050 124058050 single base substitution G A intron_variant BRCA-EU 8 124058442 124058442 single base substitution G A intron_variant BRCA-EU 8 124058735 124058735 single base substitution G A intron_variant BRCA-EU 8 124059002 124059002 single base substitution G A intron_variant BRCA-EU 8 124059732 124059732 single base substitution G A intron_variant BRCA-EU 8 124060772 124060772 single base substitution C A intron_variant BRCA-EU 8 124060871 124060871 single base substitution A C intron_variant BRCA-EU 8 124061281 124061281 single base substitution T A intron_variant BRCA-EU 8 124061334 124061334 single base substitution A G intron_variant BRCA-EU 8 124061747 124061747 single base substitution G C intron_variant BRCA-EU 8 124062772 124062772 single base substitution C T intron_variant BRCA-EU 8 124062934 124062934 single base substitution T C intron_variant BRCA-EU 8 124064623 124064623 single base substitution C T intron_variant BRCA-EU 8 124064755 124064755 deletion of <=200bp C - intron_variant BRCA-EU 8 124064777 124064777 single base substitution T C intron_variant BRCA-EU 8 124065220 124065220 single base substitution A C intron_variant BRCA-EU 8 124065239 124065239 single base substitution G C intron_variant BRCA-EU 8 124065487 124065487 single base substitution A C intron_variant BRCA-EU 8 124066546 124066546 single base substitution G A intron_variant BRCA-EU 8 124066747 124066747 single base substitution G A intron_variant BRCA-EU 8 124069748 124069748 single base substitution G C intron_variant BRCA-EU 8 124070102 124070102 single base substitution C T intron_variant BRCA-EU 8 124070189 124070189 single base substitution C G intron_variant BRCA-EU 8 124071285 124071285 single base substitution G A intron_variant BRCA-EU 8 124072971 124072971 single base substitution C T intron_variant BRCA-EU 8 124075046 124075046 single base substitution A T intron_variant BRCA-EU 8 124076026 124076026 single base substitution C A intron_variant BRCA-EU 8 124076118 124076118 single base substitution C T intron_variant BRCA-EU 8 124076278 124076278 single base substitution A G intron_variant BRCA-EU 8 124076446 124076446 single base substitution T C intron_variant BRCA-EU 8 124076725 124076725 insertion of <=200bp - T intron_variant BRCA-EU 8 124076867 124076867 single base substitution G C intron_variant BRCA-EU 8 124077321 124077321 single base substitution G C intron_variant BRCA-EU 8 124079024 124079024 deletion of <=200bp A - intron_variant BRCA-EU 8 124080259 124080259 single base substitution G C intron_variant BRCA-EU 8 124080259 124080259 single base substitution G C upstream_gene_variant BRCA-EU 8 124080266 124080266 single base substitution T C intron_variant BRCA-EU 8 124080266 124080266 single base substitution T C upstream_gene_variant BRCA-EU 8 124080288 124080288 single base substitution G A intron_variant BRCA-EU 8 124080288 124080288 single base substitution G A upstream_gene_variant BRCA-EU 8 124082719 124082719 single base substitution C T intron_variant BRCA-EU 8 124082719 124082719 single base substitution C T upstream_gene_variant BRCA-EU 8 124082727 124082727 single base substitution A G intron_variant BRCA-EU 8 124082727 124082727 single base substitution A G upstream_gene_variant BRCA-EU 8 124083186 124083186 single base substitution C A intron_variant BRCA-EU 8 124083186 124083186 single base substitution C A upstream_gene_variant BRCA-EU 8 124083923 124083923 single base substitution G C intron_variant BRCA-EU 8 124083923 124083923 single base substitution G C upstream_gene_variant BRCA-EU 8 124084005 124084005 single base substitution C G intron_variant BRCA-EU 8 124084005 124084005 single base substitution C G upstream_gene_variant BRCA-EU 8 124084055 124084055 insertion of <=200bp - T intron_variant BRCA-EU 8 124084055 124084055 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 124084366 124084366 single base substitution G A intron_variant BRCA-EU 8 124084366 124084366 single base substitution G A upstream_gene_variant BRCA-EU 8 124084696 124084696 single base substitution G A intron_variant BRCA-EU 8 124084696 124084696 single base substitution G A upstream_gene_variant BRCA-EU 8 124085449 124085449 single base substitution G A intron_variant BRCA-EU 8 124085449 124085449 single base substitution G A upstream_gene_variant BRCA-EU 8 124085811 124085811 single base substitution G T intron_variant BRCA-EU 8 124085811 124085811 single base substitution G T upstream_gene_variant BRCA-EU 8 124087972 124087972 single base substitution T A intron_variant BRCA-EU 8 124088324 124088324 insertion of <=200bp - T intron_variant BRCA-EU 8 124088774 124088774 single base substitution C G intron_variant BRCA-EU 8 124089217 124089232 deletion of <=200bp TAGAGGAGCGGGGGTA - intron_variant BRCA-EU 8 124089257 124089257 single base substitution G C intron_variant BRCA-EU 8 124089390 124089390 single base substitution T G 5_prime_UTR_variant BRCA-EU 8 124089390 124089390 single base substitution T G exon_variant BRCA-EU 8 124089390 124089390 single base substitution T G intron_variant BRCA-EU 8 124089390 124089390 single base substitution T G missense_variant H29Q 87T>G BRCA-EU 8 124089390 124089390 single base substitution T G missense_variant H39Q 117T>G BRCA-EU 8 124090622 124090622 single base substitution G T intron_variant BRCA-EU 8 124090622 124090622 single base substitution G T upstream_gene_variant BRCA-EU 8 124090836 124090836 single base substitution T G intron_variant BRCA-EU 8 124090836 124090836 single base substitution T G upstream_gene_variant BRCA-EU 8 124091606 124091606 single base substitution G A intron_variant BRCA-EU 8 124091606 124091606 single base substitution G A upstream_gene_variant BRCA-EU 8 124093498 124093498 single base substitution C T intron_variant BRCA-EU 8 124093498 124093498 single base substitution C T upstream_gene_variant BRCA-EU 8 124093548 124093548 single base substitution C G intron_variant BRCA-EU 8 124093548 124093548 single base substitution C G upstream_gene_variant BRCA-EU 8 124094262 124094262 single base substitution C T intron_variant BRCA-EU 8 124094262 124094262 single base substitution C T upstream_gene_variant BRCA-EU 8 124095657 124095657 deletion of <=200bp T - exon_variant BRCA-EU 8 124095657 124095657 deletion of <=200bp T - intron_variant BRCA-EU 8 124095674 124095674 deletion of <=200bp T - exon_variant BRCA-EU 8 124095674 124095674 deletion of <=200bp T - intron_variant BRCA-EU 8 124095919 124095919 single base substitution T A exon_variant BRCA-EU 8 124095919 124095919 single base substitution T A intron_variant BRCA-EU 8 124096205 124096205 single base substitution G T exon_variant BRCA-EU 8 124096205 124096205 single base substitution G T intron_variant BRCA-EU 8 124096262 124096262 single base substitution C T exon_variant BRCA-EU 8 124096262 124096262 single base substitution C T intron_variant BRCA-EU 8 124096454 124096454 single base substitution G T 3_prime_UTR_variant BRCA-EU 8 124096454 124096454 single base substitution G T exon_variant BRCA-EU 8 124096454 124096454 single base substitution G T intron_variant BRCA-EU 8 124096454 124096454 single base substitution G T synonymous_variant S10S 30G>T BRCA-EU 8 124096454 124096454 single base substitution G T synonymous_variant S121S 363G>T BRCA-EU 8 124096454 124096454 single base substitution G T synonymous_variant S131S 393G>T BRCA-EU 8 124096454 124096454 single base substitution G T synonymous_variant S26S 78G>T BRCA-EU 8 124096877 124096877 single base substitution G C downstream_gene_variant BRCA-EU 8 124096877 124096877 single base substitution G C intron_variant BRCA-EU 8 124096987 124096987 single base substitution T C downstream_gene_variant BRCA-EU 8 124096987 124096987 single base substitution T C intron_variant BRCA-EU 8 124097295 124097295 single base substitution G A downstream_gene_variant BRCA-EU 8 124097295 124097295 single base substitution G A intron_variant BRCA-EU 8 124098479 124098479 single base substitution A G downstream_gene_variant BRCA-EU 8 124098479 124098479 single base substitution A G intron_variant BRCA-EU 8 124098908 124098908 single base substitution C T downstream_gene_variant BRCA-EU 8 124098908 124098908 single base substitution C T intron_variant BRCA-EU 8 124099139 124099139 single base substitution G T downstream_gene_variant BRCA-EU 8 124099139 124099139 single base substitution G T intron_variant BRCA-EU 8 124099145 124099145 single base substitution A T downstream_gene_variant BRCA-EU 8 124099145 124099145 single base substitution A T intron_variant BRCA-EU 8 124099426 124099426 single base substitution A G downstream_gene_variant BRCA-EU 8 124099426 124099426 single base substitution A G intron_variant BRCA-EU 8 124100847 124100847 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 124100847 124100847 deletion of <=200bp A - intron_variant BRCA-EU 8 124101248 124101248 single base substitution G C downstream_gene_variant BRCA-EU 8 124101248 124101248 single base substitution G C intron_variant BRCA-EU 8 124101248 124101248 single base substitution G C upstream_gene_variant BRCA-EU 8 124102143 124102143 single base substitution C G intron_variant BRCA-EU 8 124102143 124102143 single base substitution C G upstream_gene_variant BRCA-EU 8 124103354 124103354 single base substitution A G intron_variant BRCA-EU 8 124103354 124103354 single base substitution A G upstream_gene_variant BRCA-EU 8 124103482 124103482 single base substitution T G intron_variant BRCA-EU 8 124103482 124103482 single base substitution T G upstream_gene_variant BRCA-EU 8 124104676 124104676 deletion of <=200bp T - intron_variant BRCA-EU 8 124104676 124104676 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 124105319 124105319 single base substitution T C intron_variant BRCA-EU 8 124105319 124105319 single base substitution T C upstream_gene_variant BRCA-EU 8 124106195 124106195 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 124106195 124106195 deletion of <=200bp T - intron_variant BRCA-EU 8 124106896 124106896 single base substitution C T downstream_gene_variant BRCA-EU 8 124106896 124106896 single base substitution C T intron_variant BRCA-EU 8 124106914 124106914 single base substitution G C downstream_gene_variant BRCA-EU 8 124106914 124106914 single base substitution G C intron_variant BRCA-EU 8 124107009 124107009 single base substitution G A downstream_gene_variant BRCA-EU 8 124107009 124107009 single base substitution G A intron_variant BRCA-EU 8 124107060 124107060 single base substitution C T downstream_gene_variant BRCA-EU 8 124107060 124107060 single base substitution C T intron_variant BRCA-EU 8 124109035 124109035 single base substitution T C downstream_gene_variant BRCA-EU 8 124109035 124109035 single base substitution T C intron_variant BRCA-EU 8 124109035 124109035 single base substitution T C upstream_gene_variant BRCA-EU 8 124109144 124109144 single base substitution A G downstream_gene_variant BRCA-EU 8 124109144 124109144 single base substitution A G intron_variant BRCA-EU 8 124109144 124109144 single base substitution A G upstream_gene_variant BRCA-EU 8 124110057 124110057 single base substitution T A downstream_gene_variant BRCA-EU 8 124110057 124110057 single base substitution T A exon_variant BRCA-EU 8 124110057 124110057 single base substitution T A intron_variant BRCA-EU 8 124110057 124110057 single base substitution T A upstream_gene_variant BRCA-EU 8 124110271 124110271 single base substitution C T downstream_gene_variant BRCA-EU 8 124110271 124110271 single base substitution C T intron_variant BRCA-EU 8 124110271 124110271 single base substitution C T upstream_gene_variant BRCA-EU 8 124110272 124110272 single base substitution G A downstream_gene_variant BRCA-EU 8 124110272 124110272 single base substitution G A intron_variant BRCA-EU 8 124110272 124110272 single base substitution G A upstream_gene_variant BRCA-EU 8 124110291 124110291 single base substitution A C downstream_gene_variant BRCA-EU 8 124110291 124110291 single base substitution A C intron_variant BRCA-EU 8 124110291 124110291 single base substitution A C upstream_gene_variant BRCA-EU 8 124111135 124111135 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 124111135 124111135 deletion of <=200bp T - intron_variant BRCA-EU 8 124111135 124111135 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 124111291 124111291 single base substitution T G downstream_gene_variant BRCA-EU 8 124111291 124111291 single base substitution T G intron_variant BRCA-EU 8 124111291 124111291 single base substitution T G upstream_gene_variant BRCA-EU 8 124111369 124111369 single base substitution T C downstream_gene_variant BRCA-EU 8 124111369 124111369 single base substitution T C intron_variant BRCA-EU 8 124111369 124111369 single base substitution T C upstream_gene_variant BRCA-EU 8 124111578 124111578 single base substitution T C downstream_gene_variant BRCA-EU 8 124111578 124111578 single base substitution T C intron_variant BRCA-EU 8 124111578 124111578 single base substitution T C upstream_gene_variant BRCA-EU 8 124112300 124112300 single base substitution G T downstream_gene_variant BRCA-EU 8 124112300 124112300 single base substitution G T intron_variant BRCA-EU 8 124112300 124112300 single base substitution G T upstream_gene_variant BRCA-EU 8 124113550 124113550 single base substitution C T downstream_gene_variant BRCA-EU 8 124113550 124113550 single base substitution C T intron_variant BRCA-EU 8 124113553 124113553 single base substitution A G downstream_gene_variant BRCA-EU 8 124113553 124113553 single base substitution A G intron_variant BRCA-EU 8 124114611 124114611 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 8 124114611 124114611 insertion of <=200bp - A downstream_gene_variant BRCA-EU 8 124114611 124114611 insertion of <=200bp - A intron_variant BRCA-EU 8 124115119 124115119 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 124115119 124115119 single base substitution G A downstream_gene_variant BRCA-EU 8 124115119 124115119 single base substitution G A intron_variant BRCA-EU 8 124116111 124116111 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 8 124116111 124116111 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 124116111 124116111 insertion of <=200bp - T intron_variant BRCA-EU 8 124116341 124116341 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 124116341 124116341 single base substitution C G downstream_gene_variant BRCA-EU 8 124116341 124116341 single base substitution C G intron_variant BRCA-EU 8 124116834 124116834 single base substitution G T downstream_gene_variant BRCA-EU 8 124116834 124116834 single base substitution G T intron_variant BRCA-EU 8 124116834 124116834 single base substitution G T upstream_gene_variant BRCA-EU 8 124117553 124117553 single base substitution T C 3_prime_UTR_variant BRCA-EU 8 124117553 124117553 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 8 124117553 124117553 single base substitution T C downstream_gene_variant BRCA-EU 8 124117553 124117553 single base substitution T C missense_variant I21T 62T>C BRCA-EU 8 124117553 124117553 single base substitution T C missense_variant I248T 743T>C BRCA-EU 8 124117553 124117553 single base substitution T C missense_variant I353T 1058T>C BRCA-EU 8 124117553 124117553 single base substitution T C upstream_gene_variant BRCA-EU 8 124118498 124118498 single base substitution G A downstream_gene_variant BRCA-EU 8 124118498 124118498 single base substitution G A intron_variant BRCA-EU 8 124118498 124118498 single base substitution G A upstream_gene_variant BRCA-EU 8 124118886 124118886 insertion of <=200bp - T downstream_gene_variant BRCA-EU 8 124118886 124118886 insertion of <=200bp - T intron_variant BRCA-EU 8 124118886 124118886 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 124118894 124118894 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 124118894 124118894 deletion of <=200bp T - intron_variant BRCA-EU 8 124118894 124118894 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 124119110 124119110 single base substitution A T downstream_gene_variant BRCA-EU 8 124119110 124119110 single base substitution A T intron_variant BRCA-EU 8 124119110 124119110 single base substitution A T upstream_gene_variant BRCA-EU 8 124119857 124119857 single base substitution C T downstream_gene_variant BRCA-EU 8 124119857 124119857 single base substitution C T intron_variant BRCA-EU 8 124119857 124119857 single base substitution C T upstream_gene_variant BRCA-EU 8 124120790 124120790 single base substitution A C downstream_gene_variant BRCA-EU 8 124120790 124120790 single base substitution A C intron_variant BRCA-EU 8 124120790 124120790 single base substitution A C upstream_gene_variant BRCA-EU 8 124120937 124120937 single base substitution G A downstream_gene_variant BRCA-EU 8 124120937 124120937 single base substitution G A intron_variant BRCA-EU 8 124120937 124120937 single base substitution G A upstream_gene_variant BRCA-EU 8 124120966 124120966 single base substitution T C downstream_gene_variant BRCA-EU 8 124120966 124120966 single base substitution T C intron_variant BRCA-EU 8 124120966 124120966 single base substitution T C upstream_gene_variant BRCA-EU 8 124121376 124121376 single base substitution T A downstream_gene_variant BRCA-EU 8 124121376 124121376 single base substitution T A intron_variant BRCA-EU 8 124121376 124121376 single base substitution T A upstream_gene_variant BRCA-EU 8 124121968 124121968 single base substitution A G downstream_gene_variant BRCA-EU 8 124121968 124121968 single base substitution A G intron_variant BRCA-EU 8 124123175 124123175 single base substitution A G downstream_gene_variant BRCA-EU 8 124123175 124123175 single base substitution A G intron_variant BRCA-EU 8 124123255 124123255 single base substitution T G downstream_gene_variant BRCA-EU 8 124123255 124123255 single base substitution T G intron_variant BRCA-EU 8 124123641 124123641 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 124123641 124123641 deletion of <=200bp T - intron_variant BRCA-EU 8 124124694 124124694 single base substitution T C downstream_gene_variant BRCA-EU 8 124124694 124124694 single base substitution T C intron_variant BRCA-EU 8 124124757 124124757 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 124124757 124124757 deletion of <=200bp A - intron_variant BRCA-EU 8 124124813 124124813 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 124124813 124124813 deletion of <=200bp T - intron_variant BRCA-EU 8 124125420 124125420 single base substitution C G downstream_gene_variant BRCA-EU 8 124125420 124125420 single base substitution C G intron_variant BRCA-EU 8 124125578 124125578 single base substitution A G downstream_gene_variant BRCA-EU 8 124125578 124125578 single base substitution A G intron_variant BRCA-EU 8 124127332 124127332 single base substitution G C intron_variant BRCA-EU 8 124128433 124128433 single base substitution A C intron_variant BRCA-EU 8 124129207 124129207 single base substitution G C intron_variant BRCA-EU 8 124131623 124131623 single base substitution G A intron_variant BRCA-EU 8 124131991 124131991 single base substitution G C intron_variant BRCA-EU 8 124132566 124132566 single base substitution C G intron_variant BRCA-EU 8 124132955 124132955 single base substitution T A intron_variant BRCA-EU 8 124133441 124133441 single base substitution G A intron_variant BRCA-EU 8 124133749 124133749 single base substitution G C intron_variant BRCA-EU 8 124134133 124134133 single base substitution G C intron_variant BRCA-EU 8 124134338 124134338 deletion of <=200bp A - intron_variant BRCA-EU 8 124134644 124134644 single base substitution G C intron_variant BRCA-EU 8 124137439 124137439 single base substitution A T intron_variant BRCA-EU 8 124137439 124137439 single base substitution A T upstream_gene_variant BRCA-EU 8 124138174 124138174 deletion of <=200bp T - intron_variant BRCA-EU 8 124138174 124138174 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 124138716 124138716 deletion of <=200bp A - intron_variant BRCA-EU 8 124138716 124138716 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 124139409 124139409 single base substitution G A intron_variant BRCA-EU 8 124139409 124139409 single base substitution G A upstream_gene_variant BRCA-EU 8 124139732 124139732 single base substitution C T intron_variant BRCA-EU 8 124139732 124139732 single base substitution C T upstream_gene_variant BRCA-EU 8 124140724 124140724 single base substitution G T 3_prime_UTR_variant BRCA-EU 8 124140724 124140724 single base substitution G T exon_variant BRCA-EU 8 124140724 124140724 single base substitution G T intron_variant BRCA-EU 8 124140724 124140724 single base substitution G T missense_variant R573S 1719G>T BRCA-EU 8 124140724 124140724 single base substitution G T missense_variant R591S 1773G>T BRCA-EU 8 124140724 124140724 single base substitution G T missense_variant R696S 2088G>T BRCA-EU 8 124141630 124141630 single base substitution C A downstream_gene_variant BRCA-EU 8 124141630 124141630 single base substitution C A intron_variant BRCA-EU 8 124142007 124142007 single base substitution G T downstream_gene_variant BRCA-EU 8 124142007 124142007 single base substitution G T intron_variant BRCA-EU 8 124144522 124144522 single base substitution C T downstream_gene_variant BRCA-EU 8 124144522 124144522 single base substitution C T intron_variant BRCA-EU 8 124144738 124144738 single base substitution C T downstream_gene_variant BRCA-EU 8 124144738 124144738 single base substitution C T intron_variant BRCA-EU 8 124145505 124145505 single base substitution G C downstream_gene_variant BRCA-EU 8 124145505 124145505 single base substitution G C intron_variant BRCA-EU 8 124146270 124146270 single base substitution C T downstream_gene_variant BRCA-EU 8 124146270 124146270 single base substitution C T intron_variant BRCA-EU 8 124147067 124147067 single base substitution A T intron_variant BRCA-EU 8 124147835 124147835 deletion of <=200bp A - intron_variant BRCA-EU 8 124149637 124149637 insertion of <=200bp - T intron_variant BRCA-EU 8 124150770 124150770 single base substitution C T intron_variant BRCA-EU 8 124151043 124151043 single base substitution A C intron_variant BRCA-EU 8 124151796 124151796 single base substitution G A intron_variant BRCA-EU 8 124152421 124152421 single base substitution G T intron_variant BRCA-EU 8 124152766 124152766 single base substitution G C intron_variant BRCA-EU 8 124152782 124152782 deletion of <=200bp T - intron_variant BRCA-EU 8 124153237 124153237 single base substitution G C intron_variant BRCA-EU 8 124153322 124153322 single base substitution G T intron_variant BRCA-EU 8 124153612 124153612 deletion of <=200bp G - intron_variant BRCA-EU 8 124153927 124153927 deletion of <=200bp T - intron_variant BRCA-EU 8 124154169 124154169 single base substitution C T intron_variant BRCA-EU 8 124154424 124154424 single base substitution G C intron_variant BRCA-EU 8 124154718 124154718 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 124154718 124154718 deletion of <=200bp T - intron_variant BRCA-EU 8 124154754 124154754 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 124154754 124154754 deletion of <=200bp A - intron_variant BRCA-EU 8 124158214 124158214 single base substitution G A downstream_gene_variant BRCA-EU 8 124158214 124158214 single base substitution G A intron_variant BRCA-EU 8 124158692 124158692 single base substitution G A downstream_gene_variant BRCA-EU 8 124158692 124158692 single base substitution G A intron_variant BRCA-EU 8 124159050 124159050 single base substitution G A downstream_gene_variant BRCA-EU 8 124159050 124159050 single base substitution G A intron_variant BRCA-EU 8 124159237 124159237 single base substitution C G downstream_gene_variant BRCA-EU 8 124159237 124159237 single base substitution C G intron_variant BRCA-EU 8 124159800 124159800 single base substitution C T intron_variant BRCA-EU 8 124160681 124160681 single base substitution G C intron_variant BRCA-EU 8 124161179 124161179 single base substitution C T intron_variant BRCA-EU 8 124161385 124161385 single base substitution C G intron_variant BRCA-EU 8 124161459 124161459 single base substitution C G intron_variant BRCA-EU 8 124161563 124161563 single base substitution G T intron_variant BRCA-EU 8 124164090 124164090 single base substitution A G 3_prime_UTR_variant BRCA-EU 8 124164090 124164090 single base substitution A G missense_variant N1038D 3112A>G BRCA-EU 8 124164090 124164090 single base substitution A G missense_variant N592D 1774A>G BRCA-EU 8 124164090 124164090 single base substitution A G missense_variant N915D 2743A>G BRCA-EU 8 124164090 124164090 single base substitution A G missense_variant N933D 2797A>G BRCA-EU 8 124164090 124164090 single base substitution A G missense_variant N942D 2824A>G BRCA-EU 8 124164090 124164090 single base substitution A G missense_variant N973D 2917A>G BRCA-EU 8 124164204 124164204 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 124164204 124164204 single base substitution G A downstream_gene_variant BRCA-EU 8 124164820 124164820 single base substitution G C downstream_gene_variant BRCA-EU 8 124164908 124164908 single base substitution C T downstream_gene_variant BRCA-EU 8 124165125 124165125 single base substitution G T downstream_gene_variant BRCA-EU 8 124165776 124165776 single base substitution C T downstream_gene_variant BRCA-EU 8 124165871 124165871 single base substitution C G downstream_gene_variant BRCA-EU 8 124166003 124166003 single base substitution C A downstream_gene_variant BRCA-EU 8 124168237 124168237 single base substitution G A downstream_gene_variant BRCA-EU 8 124168825 124168825 single base substitution G A downstream_gene_variant BRCA-EU 8 124168845 124168845 single base substitution G A downstream_gene_variant BRCA-FR 8 124049863 124049863 single base substitution G A upstream_gene_variant BRCA-FR 8 124050198 124050198 single base substitution G C upstream_gene_variant BRCA-FR 8 124050906 124050906 single base substitution G A upstream_gene_variant BRCA-FR 8 124051891 124051891 single base substitution G A upstream_gene_variant BRCA-FR 8 124052358 124052358 single base substitution G A upstream_gene_variant BRCA-FR 8 124052585 124052585 single base substitution G A upstream_gene_variant BRCA-FR 8 124052904 124052904 single base substitution G C upstream_gene_variant BRCA-FR 8 124052930 124052930 single base substitution G C upstream_gene_variant BRCA-FR 8 124053009 124053009 single base substitution G A upstream_gene_variant BRCA-FR 8 124054922 124054922 single base substitution C T intron_variant BRCA-FR 8 124056622 124056622 single base substitution A C intron_variant BRCA-FR 8 124056656 124056656 single base substitution C T intron_variant BRCA-FR 8 124061747 124061747 single base substitution G C intron_variant BRCA-FR 8 124066546 124066546 single base substitution G A intron_variant BRCA-FR 8 124069748 124069748 single base substitution G C intron_variant BRCA-FR 8 124070638 124070638 single base substitution G C intron_variant BRCA-FR 8 124088774 124088774 single base substitution C G intron_variant BRCA-FR 8 124089390 124089390 single base substitution T G 5_prime_UTR_variant BRCA-FR 8 124089390 124089390 single base substitution T G exon_variant BRCA-FR 8 124089390 124089390 single base substitution T G intron_variant BRCA-FR 8 124089390 124089390 single base substitution T G missense_variant H29Q 87T>G BRCA-FR 8 124089390 124089390 single base substitution T G missense_variant H39Q 117T>G BRCA-FR 8 124093548 124093548 single base substitution C G intron_variant BRCA-FR 8 124093548 124093548 single base substitution C G upstream_gene_variant BRCA-FR 8 124096454 124096454 single base substitution G T 3_prime_UTR_variant BRCA-FR 8 124096454 124096454 single base substitution G T exon_variant BRCA-FR 8 124096454 124096454 single base substitution G T intron_variant BRCA-FR 8 124096454 124096454 single base substitution G T synonymous_variant S10S 30G>T BRCA-FR 8 124096454 124096454 single base substitution G T synonymous_variant S121S 363G>T BRCA-FR 8 124096454 124096454 single base substitution G T synonymous_variant S131S 393G>T BRCA-FR 8 124096454 124096454 single base substitution G T synonymous_variant S26S 78G>T BRCA-FR 8 124103846 124103846 single base substitution G C intron_variant BRCA-FR 8 124103846 124103846 single base substitution G C upstream_gene_variant BRCA-FR 8 124107009 124107009 single base substitution G A downstream_gene_variant BRCA-FR 8 124107009 124107009 single base substitution G A intron_variant BRCA-FR 8 124111369 124111369 single base substitution T C downstream_gene_variant BRCA-FR 8 124111369 124111369 single base substitution T C intron_variant BRCA-FR 8 124111369 124111369 single base substitution T C upstream_gene_variant BRCA-FR 8 124120385 124120385 single base substitution T A downstream_gene_variant BRCA-FR 8 124120385 124120385 single base substitution T A intron_variant BRCA-FR 8 124120385 124120385 single base substitution T A upstream_gene_variant BRCA-FR 8 124121968 124121968 single base substitution A G downstream_gene_variant BRCA-FR 8 124121968 124121968 single base substitution A G intron_variant BRCA-FR 8 124122471 124122471 single base substitution C T downstream_gene_variant BRCA-FR 8 124122471 124122471 single base substitution C T intron_variant BRCA-FR 8 124125420 124125420 single base substitution C G downstream_gene_variant BRCA-FR 8 124125420 124125420 single base substitution C G intron_variant BRCA-FR 8 124145505 124145505 single base substitution G C downstream_gene_variant BRCA-FR 8 124145505 124145505 single base substitution G C intron_variant BRCA-FR 8 124152421 124152421 single base substitution G T intron_variant BRCA-FR 8 124152766 124152766 single base substitution G C intron_variant BRCA-FR 8 124153322 124153322 single base substitution G T intron_variant BRCA-FR 8 124153679 124153679 single base substitution G T intron_variant BRCA-FR 8 124154169 124154169 single base substitution C T intron_variant BRCA-FR 8 124158372 124158372 single base substitution A G downstream_gene_variant BRCA-FR 8 124158372 124158372 single base substitution A G intron_variant BRCA-FR 8 124159050 124159050 single base substitution G A downstream_gene_variant BRCA-FR 8 124159050 124159050 single base substitution G A intron_variant BRCA-FR 8 124161385 124161385 single base substitution C G intron_variant BRCA-FR 8 124161459 124161459 single base substitution C G intron_variant BRCA-FR 8 124162242 124162242 single base substitution A G intron_variant BRCA-FR 8 124162340 124162340 single base substitution C T 3_prime_UTR_variant BRCA-FR 8 124162340 124162340 single base substitution C T synonymous_variant D1013D 3039C>T BRCA-FR 8 124162340 124162340 single base substitution C T synonymous_variant D567D 1701C>T BRCA-FR 8 124162340 124162340 single base substitution C T synonymous_variant D890D 2670C>T BRCA-FR 8 124162340 124162340 single base substitution C T synonymous_variant D908D 2724C>T BRCA-FR 8 124162340 124162340 single base substitution C T synonymous_variant D917D 2751C>T BRCA-FR 8 124162340 124162340 single base substitution C T synonymous_variant D948D 2844C>T BRCA-FR 8 124164204 124164204 single base substitution G A 3_prime_UTR_variant BRCA-FR 8 124164204 124164204 single base substitution G A downstream_gene_variant BRCA-FR 8 124164908 124164908 single base substitution C T downstream_gene_variant BRCA-FR 8 124168825 124168825 single base substitution G A downstream_gene_variant BRCA-UK 8 124049247 124049247 single base substitution G A upstream_gene_variant BRCA-UK 8 124053140 124053142 deletion of <=200bp TTA - upstream_gene_variant BRCA-UK 8 124059141 124059141 single base substitution C T intron_variant BRCA-UK 8 124094945 124094945 single base substitution C T 5_prime_UTR_variant BRCA-UK 8 124094945 124094945 single base substitution C T exon_variant BRCA-UK 8 124094945 124094945 single base substitution C T intron_variant BRCA-UK 8 124094945 124094945 single base substitution C T synonymous_variant F66F 198C>T BRCA-UK 8 124094945 124094945 single base substitution C T synonymous_variant F76F 228C>T BRCA-UK 8 124111291 124111291 single base substitution T G downstream_gene_variant BRCA-UK 8 124111291 124111291 single base substitution T G intron_variant BRCA-UK 8 124111291 124111291 single base substitution T G upstream_gene_variant BRCA-UK 8 124120966 124120966 single base substitution T C downstream_gene_variant BRCA-UK 8 124120966 124120966 single base substitution T C intron_variant BRCA-UK 8 124120966 124120966 single base substitution T C upstream_gene_variant BRCA-UK 8 124121376 124121376 single base substitution T A downstream_gene_variant BRCA-UK 8 124121376 124121376 single base substitution T A intron_variant BRCA-UK 8 124121376 124121376 single base substitution T A upstream_gene_variant BRCA-UK 8 124151796 124151796 single base substitution G A intron_variant BRCA-US 8 124096492 124096494 deletion of <=200bp CTT - 3_prime_UTR_variant BRCA-US 8 124096492 124096494 deletion of <=200bp CTT - exon_variant BRCA-US 8 124096492 124096494 deletion of <=200bp CTT - inframe_deletion TS134T BRCA-US 8 124096492 124096494 deletion of <=200bp CTT - inframe_deletion TS144T BRCA-US 8 124096492 124096494 deletion of <=200bp CTT - inframe_deletion TS23T BRCA-US 8 124096492 124096494 deletion of <=200bp CTT - inframe_deletion TS39T BRCA-US 8 124096492 124096494 deletion of <=200bp CTT - intron_variant BRCA-US 8 124105925 124105925 single base substitution A G 3_prime_UTR_variant BRCA-US 8 124105925 124105925 single base substitution A G downstream_gene_variant BRCA-US 8 124105925 124105925 single base substitution A G exon_variant BRCA-US 8 124105925 124105925 single base substitution A G intron_variant BRCA-US 8 124105925 124105925 single base substitution A G missense_variant Q100R 299A>G BRCA-US 8 124105925 124105925 single base substitution A G missense_variant Q195R 584A>G BRCA-US 8 124105925 124105925 single base substitution A G missense_variant Q205R 614A>G BRCA-US 8 124105925 124105925 single base substitution A G missense_variant Q8R 23A>G BRCA-US 8 124113134 124113134 single base substitution G T 3_prime_UTR_variant BRCA-US 8 124113134 124113134 single base substitution G T downstream_gene_variant BRCA-US 8 124113134 124113134 single base substitution G T exon_variant BRCA-US 8 124113134 124113134 single base substitution G T intron_variant BRCA-US 8 124113134 124113134 single base substitution G T stop_gained E110* 328G>T BRCA-US 8 124113134 124113134 single base substitution G T stop_gained E202* 604G>T BRCA-US 8 124113134 124113134 single base substitution G T stop_gained E307* 919G>T BRCA-US 8 124113134 124113134 single base substitution G T upstream_gene_variant BRCA-US 8 124117616 124117616 single base substitution G A 3_prime_UTR_variant BRCA-US 8 124117616 124117616 single base substitution G A downstream_gene_variant BRCA-US 8 124117616 124117616 single base substitution G A missense_variant R269K 806G>A BRCA-US 8 124117616 124117616 single base substitution G A missense_variant R374K 1121G>A BRCA-US 8 124117616 124117616 single base substitution G A missense_variant R42K 125G>A BRCA-US 8 124117616 124117616 single base substitution G A missense_variant R7K 20G>A BRCA-US 8 124117616 124117616 single base substitution G A upstream_gene_variant BRCA-US 8 124121778 124121778 single base substitution G C 3_prime_UTR_variant BRCA-US 8 124121778 124121778 single base substitution G C exon_variant BRCA-US 8 124121778 124121778 single base substitution G C missense_variant D120H 358G>C BRCA-US 8 124121778 124121778 single base substitution G C missense_variant D329H 985G>C BRCA-US 8 124121778 124121778 single base substitution G C missense_variant D347H 1039G>C BRCA-US 8 124121778 124121778 single base substitution G C missense_variant D452H 1354G>C BRCA-US 8 124121778 124121778 single base substitution G C missense_variant D85H 253G>C BRCA-US 8 124132397 124132397 single base substitution C T 3_prime_UTR_variant BRCA-US 8 124132397 124132397 single base substitution C T intron_variant BRCA-US 8 124132397 124132397 single base substitution C T synonymous_variant L146L 438C>T BRCA-US 8 124132397 124132397 single base substitution C T synonymous_variant L390L 1170C>T BRCA-US 8 124132397 124132397 single base substitution C T synonymous_variant L408L 1224C>T BRCA-US 8 124132397 124132397 single base substitution C T synonymous_variant L513L 1539C>T BRCA-US 8 124132400 124132400 single base substitution C T 3_prime_UTR_variant BRCA-US 8 124132400 124132400 single base substitution C T intron_variant BRCA-US 8 124132400 124132400 single base substitution C T synonymous_variant I147I 441C>T BRCA-US 8 124132400 124132400 single base substitution C T synonymous_variant I391I 1173C>T BRCA-US 8 124132400 124132400 single base substitution C T synonymous_variant I409I 1227C>T BRCA-US 8 124132400 124132400 single base substitution C T synonymous_variant I514I 1542C>T BRCA-US 8 124138797 124138797 single base substitution G C 3_prime_UTR_variant BRCA-US 8 124138797 124138797 single base substitution G C missense_variant R218T 653G>C BRCA-US 8 124138797 124138797 single base substitution G C missense_variant R462T 1385G>C BRCA-US 8 124138797 124138797 single base substitution G C missense_variant R480T 1439G>C BRCA-US 8 124138797 124138797 single base substitution G C missense_variant R585T 1754G>C BRCA-US 8 124138797 124138797 single base substitution G C upstream_gene_variant BRCA-US 8 124141389 124141389 single base substitution G A 3_prime_UTR_variant BRCA-US 8 124141389 124141389 single base substitution G A exon_variant BRCA-US 8 124141389 124141389 single base substitution G A missense_variant R288H 863G>A BRCA-US 8 124141389 124141389 single base substitution G A missense_variant R611H 1832G>A BRCA-US 8 124141389 124141389 single base substitution G A missense_variant R629H 1886G>A BRCA-US 8 124141389 124141389 single base substitution G A missense_variant R734H 2201G>A BRCA-US 8 124141389 124141389 single base substitution G A missense_variant V628I 1882G>A BRCA-US 8 124154635 124154635 single base substitution G T exon_variant BRCA-US 8 124154635 124154635 single base substitution G T intron_variant BRCA-US 8 124154635 124154635 single base substitution G T missense_variant R479M 1436G>T BRCA-US 8 124154635 124154635 single base substitution G T missense_variant R802M 2405G>T BRCA-US 8 124154635 124154635 single base substitution G T missense_variant R820M 2459G>T BRCA-US 8 124154635 124154635 single base substitution G T missense_variant R925M 2774G>T BRCA-US 8 124162367 124162367 single base substitution G A splice_region_variant BRCA-US 8 124164049 124164049 single base substitution C G 3_prime_UTR_variant BRCA-US 8 124164049 124164049 single base substitution C G missense_variant S1024C 3071C>G BRCA-US 8 124164049 124164049 single base substitution C G missense_variant S578C 1733C>G BRCA-US 8 124164049 124164049 single base substitution C G missense_variant S901C 2702C>G BRCA-US 8 124164049 124164049 single base substitution C G missense_variant S919C 2756C>G BRCA-US 8 124164049 124164049 single base substitution C G missense_variant S928C 2783C>G BRCA-US 8 124164049 124164049 single base substitution C G missense_variant S959C 2876C>G BTCA-JP 8 124109512 124109512 single base substitution G C downstream_gene_variant BTCA-JP 8 124109512 124109512 single base substitution G C intron_variant BTCA-JP 8 124109512 124109512 single base substitution G C upstream_gene_variant BTCA-JP 8 124114333 124114333 single base substitution G T downstream_gene_variant BTCA-JP 8 124114333 124114333 single base substitution G T intron_variant BTCA-JP 8 124114547 124114547 single base substitution A G 3_prime_UTR_variant BTCA-JP 8 124114547 124114547 single base substitution A G downstream_gene_variant BTCA-JP 8 124114547 124114547 single base substitution A G intron_variant BTCA-JP 8 124114599 124114599 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 8 124114599 124114599 deletion of <=200bp T - downstream_gene_variant BTCA-JP 8 124114599 124114599 deletion of <=200bp T - intron_variant BTCA-JP 8 124141476 124141476 insertion of <=200bp - A downstream_gene_variant BTCA-JP 8 124141476 124141476 insertion of <=200bp - A intron_variant BTCA-JP 8 124146354 124146354 single base substitution G A downstream_gene_variant BTCA-JP 8 124146354 124146354 single base substitution G A intron_variant BTCA-JP 8 124146354 124146354 single base substitution G A missense_variant V357I 1069G>A BTCA-JP 8 124146354 124146354 single base substitution G A missense_variant V680I 2038G>A BTCA-JP 8 124146354 124146354 single base substitution G A missense_variant V698I 2092G>A BTCA-JP 8 124146354 124146354 single base substitution G A missense_variant V803I 2407G>A BTCA-JP 8 124146354 124146354 single base substitution G A splice_region_variant BTCA-JP 8 124152975 124152975 deletion of <=200bp T - intron_variant BTCA-JP 8 124154753 124154753 single base substitution T A downstream_gene_variant BTCA-JP 8 124154753 124154753 single base substitution T A intron_variant CESC-US 8 124140520 124140520 insertion of <=200bp - T exon_variant CESC-US 8 124140520 124140520 insertion of <=200bp - T intron_variant CESC-US 8 124140520 124140520 insertion of <=200bp - T splice_acceptor_variant CESC-US 8 124140521 124140521 deletion of <=200bp T - exon_variant CESC-US 8 124140521 124140521 deletion of <=200bp T - frameshift_variant F506 CESC-US 8 124140521 124140521 deletion of <=200bp T - frameshift_variant F524 CESC-US 8 124140521 124140521 deletion of <=200bp T - frameshift_variant F629 CESC-US 8 124140521 124140521 deletion of <=200bp T - intron_variant CESC-US 8 124140521 124140521 deletion of <=200bp T - splice_region_variant CESC-US 8 124140567 124140567 single base substitution G A 3_prime_UTR_variant CESC-US 8 124140567 124140567 single base substitution G A exon_variant CESC-US 8 124140567 124140567 single base substitution G A intron_variant CESC-US 8 124140567 124140567 single base substitution G A missense_variant R521K 1562G>A CESC-US 8 124140567 124140567 single base substitution G A missense_variant R539K 1616G>A CESC-US 8 124140567 124140567 single base substitution G A missense_variant R644K 1931G>A CESC-US 8 124146362 124146362 single base substitution G C 3_prime_UTR_variant CESC-US 8 124146362 124146362 single base substitution G C downstream_gene_variant CESC-US 8 124146362 124146362 single base substitution G C intron_variant CESC-US 8 124146362 124146362 single base substitution G C missense_variant M359I 1077G>C CESC-US 8 124146362 124146362 single base substitution G C missense_variant M682I 2046G>C CESC-US 8 124146362 124146362 single base substitution G C missense_variant M700I 2100G>C CESC-US 8 124146362 124146362 single base substitution G C missense_variant M805I 2415G>C CLLE-ES 8 124050008 124050008 single base substitution C A upstream_gene_variant CLLE-ES 8 124085511 124085511 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 8 124085511 124085511 single base substitution C T intron_variant CLLE-ES 8 124085511 124085511 single base substitution C T upstream_gene_variant CLLE-ES 8 124086983 124086983 single base substitution T C intron_variant CLLE-ES 8 124086983 124086983 single base substitution T C upstream_gene_variant CLLE-ES 8 124129133 124129133 single base substitution A T intron_variant CLLE-ES 8 124157600 124157600 single base substitution C T downstream_gene_variant CLLE-ES 8 124157600 124157600 single base substitution C T intron_variant CLLE-ES 8 124163582 124163582 single base substitution A G intron_variant COAD-US 8 124096557 124096557 single base substitution C T 3_prime_UTR_variant COAD-US 8 124096557 124096557 single base substitution C T downstream_gene_variant COAD-US 8 124096557 124096557 single base substitution C T exon_variant COAD-US 8 124096557 124096557 single base substitution C T intron_variant COAD-US 8 124096557 124096557 single base substitution C T missense_variant R156C 466C>T COAD-US 8 124096557 124096557 single base substitution C T missense_variant R166C 496C>T COAD-US 8 124096557 124096557 single base substitution C T missense_variant R45C 133C>T COAD-US 8 124096557 124096557 single base substitution C T missense_variant R61C 181C>T COAD-US 8 124121587 124121587 single base substitution C T 3_prime_UTR_variant COAD-US 8 124121587 124121587 single base substitution C T exon_variant COAD-US 8 124121587 124121587 single base substitution C T missense_variant R309C 925C>T COAD-US 8 124121587 124121587 single base substitution C T missense_variant R414C 1240C>T COAD-US 8 124121587 124121587 single base substitution C T missense_variant R47C 139C>T COAD-US 8 124121587 124121587 single base substitution C T missense_variant R82C 244C>T COAD-US 8 124121727 124121727 single base substitution C T 3_prime_UTR_variant COAD-US 8 124121727 124121727 single base substitution C T exon_variant COAD-US 8 124121727 124121727 single base substitution C T intron_variant COAD-US 8 124121727 124121727 single base substitution C T missense_variant R103C 307C>T COAD-US 8 124121727 124121727 single base substitution C T missense_variant R330C 988C>T COAD-US 8 124121727 124121727 single base substitution C T missense_variant R435C 1303C>T COAD-US 8 124121727 124121727 single base substitution C T missense_variant R68C 202C>T COAD-US 8 124121798 124121798 single base substitution A G 3_prime_UTR_variant COAD-US 8 124121798 124121798 single base substitution A G exon_variant COAD-US 8 124121798 124121798 single base substitution A G synonymous_variant A126A 378A>G COAD-US 8 124121798 124121798 single base substitution A G synonymous_variant A335A 1005A>G COAD-US 8 124121798 124121798 single base substitution A G synonymous_variant A353A 1059A>G COAD-US 8 124121798 124121798 single base substitution A G synonymous_variant A458A 1374A>G COAD-US 8 124121798 124121798 single base substitution A G synonymous_variant A91A 273A>G COAD-US 8 124132413 124132413 single base substitution A T 3_prime_UTR_variant COAD-US 8 124132413 124132413 single base substitution A T intron_variant COAD-US 8 124132413 124132413 single base substitution A T missense_variant I152F 454A>T COAD-US 8 124132413 124132413 single base substitution A T missense_variant I396F 1186A>T COAD-US 8 124132413 124132413 single base substitution A T missense_variant I414F 1240A>T COAD-US 8 124132413 124132413 single base substitution A T missense_variant I519F 1555A>T COAD-US 8 124138855 124138855 single base substitution G A 3_prime_UTR_variant COAD-US 8 124138855 124138855 single base substitution G A synonymous_variant L237L 711G>A COAD-US 8 124138855 124138855 single base substitution G A synonymous_variant L481L 1443G>A COAD-US 8 124138855 124138855 single base substitution G A synonymous_variant L499L 1497G>A COAD-US 8 124138855 124138855 single base substitution G A synonymous_variant L604L 1812G>A COAD-US 8 124138855 124138855 single base substitution G A upstream_gene_variant COAD-US 8 124146369 124146369 single base substitution C T 3_prime_UTR_variant COAD-US 8 124146369 124146369 single base substitution C T downstream_gene_variant COAD-US 8 124146369 124146369 single base substitution C T intron_variant COAD-US 8 124146369 124146369 single base substitution C T stop_gained R362* 1084C>T COAD-US 8 124146369 124146369 single base substitution C T stop_gained R685* 2053C>T COAD-US 8 124146369 124146369 single base substitution C T stop_gained R703* 2107C>T COAD-US 8 124146369 124146369 single base substitution C T stop_gained R808* 2422C>T COAD-US 8 124153041 124153041 single base substitution G A 3_prime_UTR_variant COAD-US 8 124153041 124153041 single base substitution G A exon_variant COAD-US 8 124153041 124153041 single base substitution G A missense_variant R401Q 1202G>A COAD-US 8 124153041 124153041 single base substitution G A missense_variant R724Q 2171G>A COAD-US 8 124153041 124153041 single base substitution G A missense_variant R742Q 2225G>A COAD-US 8 124153041 124153041 single base substitution G A missense_variant R816Q 2447G>A COAD-US 8 124153041 124153041 single base substitution G A missense_variant R847Q 2540G>A COAD-US 8 124154517 124154517 single base substitution T G exon_variant COAD-US 8 124154517 124154517 single base substitution T G intron_variant COAD-US 8 124154517 124154517 single base substitution T G missense_variant L440V 1318T>G COAD-US 8 124154517 124154517 single base substitution T G missense_variant L763V 2287T>G COAD-US 8 124154517 124154517 single base substitution T G missense_variant L781V 2341T>G COAD-US 8 124154517 124154517 single base substitution T G missense_variant L886V 2656T>G COAD-US 8 124154698 124154698 insertion of <=200bp - A downstream_gene_variant COAD-US 8 124154698 124154698 insertion of <=200bp - A intron_variant COAD-US 8 124154698 124154698 insertion of <=200bp - A splice_donor_variant COAD-US 8 124164142 124164142 single base substitution G A 3_prime_UTR_variant COAD-US 8 124164142 124164142 single base substitution G A missense_variant R1055H 3164G>A COAD-US 8 124164142 124164142 single base substitution G A missense_variant R609H 1826G>A COAD-US 8 124164142 124164142 single base substitution G A missense_variant R932H 2795G>A COAD-US 8 124164142 124164142 single base substitution G A missense_variant R950H 2849G>A COAD-US 8 124164142 124164142 single base substitution G A missense_variant R959H 2876G>A COAD-US 8 124164142 124164142 single base substitution G A missense_variant R990H 2969G>A COCA-CN 8 124054383 124054383 single base substitution A C 5_prime_UTR_variant COCA-CN 8 124060886 124060886 single base substitution G A intron_variant COCA-CN 8 124064484 124064484 single base substitution A G intron_variant COCA-CN 8 124072416 124072416 single base substitution C T intron_variant COCA-CN 8 124092769 124092769 single base substitution C T intron_variant COCA-CN 8 124092769 124092769 single base substitution C T upstream_gene_variant COCA-CN 8 124094833 124094833 single base substitution G A exon_variant COCA-CN 8 124094833 124094833 single base substitution G A intron_variant COCA-CN 8 124103564 124103564 single base substitution G A intron_variant COCA-CN 8 124103564 124103564 single base substitution G A upstream_gene_variant COCA-CN 8 124109587 124109587 single base substitution G T 3_prime_UTR_variant COCA-CN 8 124109587 124109587 single base substitution G T downstream_gene_variant COCA-CN 8 124109587 124109587 single base substitution G T exon_variant COCA-CN 8 124109587 124109587 single base substitution G T intron_variant COCA-CN 8 124109587 124109587 single base substitution G T missense_variant R141M 422G>T COCA-CN 8 124109587 124109587 single base substitution G T missense_variant R236M 707G>T COCA-CN 8 124109587 124109587 single base substitution G T missense_variant R246M 737G>T COCA-CN 8 124109587 124109587 single base substitution G T missense_variant R49M 146G>T COCA-CN 8 124109587 124109587 single base substitution G T upstream_gene_variant COCA-CN 8 124113064 124113064 single base substitution T A 3_prime_UTR_variant COCA-CN 8 124113064 124113064 single base substitution T A downstream_gene_variant COCA-CN 8 124113064 124113064 single base substitution T A exon_variant COCA-CN 8 124113064 124113064 single base substitution T A intron_variant COCA-CN 8 124113064 124113064 single base substitution T A missense_variant S178R 534T>A COCA-CN 8 124113064 124113064 single base substitution T A missense_variant S283R 849T>A COCA-CN 8 124113064 124113064 single base substitution T A missense_variant S86R 258T>A COCA-CN 8 124113064 124113064 single base substitution T A upstream_gene_variant COCA-CN 8 124113318 124113318 single base substitution C A downstream_gene_variant COCA-CN 8 124113318 124113318 single base substitution C A exon_variant COCA-CN 8 124113318 124113318 single base substitution C A intron_variant COCA-CN 8 124114496 124114496 single base substitution C T downstream_gene_variant COCA-CN 8 124114496 124114496 single base substitution C T intron_variant COCA-CN 8 124114496 124114496 single base substitution C T missense_variant R151C 451C>T COCA-CN 8 124114560 124114560 single base substitution T C 3_prime_UTR_variant COCA-CN 8 124114560 124114560 single base substitution T C downstream_gene_variant COCA-CN 8 124114560 124114560 single base substitution T C intron_variant COCA-CN 8 124121639 124121639 single base substitution A G intron_variant COCA-CN 8 124121639 124121639 single base substitution A G splice_region_variant COCA-CN 8 124121640 124121640 single base substitution C T intron_variant COCA-CN 8 124121640 124121640 single base substitution C T splice_region_variant COCA-CN 8 124132438 124132438 single base substitution T C intron_variant COCA-CN 8 124138278 124138278 single base substitution C T intron_variant COCA-CN 8 124138278 124138278 single base substitution C T upstream_gene_variant COCA-CN 8 124138729 124138729 single base substitution T G intron_variant COCA-CN 8 124138729 124138729 single base substitution T G upstream_gene_variant COCA-CN 8 124146411 124146411 single base substitution C G 3_prime_UTR_variant COCA-CN 8 124146411 124146411 single base substitution C G downstream_gene_variant COCA-CN 8 124146411 124146411 single base substitution C G intron_variant COCA-CN 8 124146411 124146411 single base substitution C G missense_variant L376V 1126C>G COCA-CN 8 124146411 124146411 single base substitution C G missense_variant L699V 2095C>G COCA-CN 8 124146411 124146411 single base substitution C G missense_variant L717V 2149C>G COCA-CN 8 124146411 124146411 single base substitution C G missense_variant L822V 2464C>G COCA-CN 8 124154599 124154599 single base substitution G A exon_variant COCA-CN 8 124154599 124154599 single base substitution G A intron_variant COCA-CN 8 124154599 124154599 single base substitution G A missense_variant R467Q 1400G>A COCA-CN 8 124154599 124154599 single base substitution G A missense_variant R790Q 2369G>A COCA-CN 8 124154599 124154599 single base substitution G A missense_variant R808Q 2423G>A COCA-CN 8 124154599 124154599 single base substitution G A missense_variant R913Q 2738G>A COCA-CN 8 124163538 124163538 single base substitution C T intron_variant EOPC-DE 8 124081125 124081125 single base substitution T G intron_variant EOPC-DE 8 124081125 124081125 single base substitution T G upstream_gene_variant EOPC-DE 8 124082325 124082325 single base substitution T C intron_variant EOPC-DE 8 124082325 124082325 single base substitution T C upstream_gene_variant ESAD-UK 8 124053483 124053483 insertion of <=200bp - ATC upstream_gene_variant ESAD-UK 8 124055883 124055883 single base substitution C T intron_variant ESAD-UK 8 124055893 124055893 single base substitution G A intron_variant ESAD-UK 8 124056866 124056866 single base substitution C T intron_variant ESAD-UK 8 124057263 124057263 single base substitution G T intron_variant ESAD-UK 8 124059605 124059605 single base substitution T G intron_variant ESAD-UK 8 124061748 124061748 single base substitution A C intron_variant ESAD-UK 8 124063996 124063996 single base substitution A G intron_variant ESAD-UK 8 124064833 124064833 single base substitution G C intron_variant ESAD-UK 8 124065778 124065778 single base substitution T C intron_variant ESAD-UK 8 124066001 124066001 single base substitution G A intron_variant ESAD-UK 8 124067223 124067223 insertion of <=200bp - A intron_variant ESAD-UK 8 124068423 124068423 single base substitution A C intron_variant ESAD-UK 8 124070331 124070331 single base substitution C T intron_variant ESAD-UK 8 124071133 124071133 single base substitution T A intron_variant ESAD-UK 8 124074167 124074167 single base substitution C G intron_variant ESAD-UK 8 124076429 124076429 single base substitution T G intron_variant ESAD-UK 8 124077302 124077302 single base substitution C T intron_variant ESAD-UK 8 124077829 124077829 single base substitution A G intron_variant ESAD-UK 8 124079024 124079024 insertion of <=200bp - A intron_variant ESAD-UK 8 124079320 124079320 single base substitution G C intron_variant ESAD-UK 8 124080038 124080038 single base substitution T C intron_variant ESAD-UK 8 124080038 124080038 single base substitution T C upstream_gene_variant ESAD-UK 8 124083881 124083881 single base substitution C T intron_variant ESAD-UK 8 124083881 124083881 single base substitution C T upstream_gene_variant ESAD-UK 8 124084484 124084484 single base substitution C G intron_variant ESAD-UK 8 124084484 124084484 single base substitution C G upstream_gene_variant ESAD-UK 8 124084841 124084841 single base substitution G A intron_variant ESAD-UK 8 124084841 124084841 single base substitution G A upstream_gene_variant ESAD-UK 8 124085861 124085861 single base substitution C G intron_variant ESAD-UK 8 124085861 124085861 single base substitution C G upstream_gene_variant ESAD-UK 8 124086456 124086456 single base substitution C T intron_variant ESAD-UK 8 124086456 124086456 single base substitution C T upstream_gene_variant ESAD-UK 8 124089955 124089955 single base substitution G A intron_variant ESAD-UK 8 124089955 124089955 single base substitution G A upstream_gene_variant ESAD-UK 8 124090524 124090524 single base substitution G C intron_variant ESAD-UK 8 124090524 124090524 single base substitution G C upstream_gene_variant ESAD-UK 8 124091130 124091130 single base substitution A C intron_variant ESAD-UK 8 124091130 124091130 single base substitution A C upstream_gene_variant ESAD-UK 8 124092519 124092519 single base substitution G A intron_variant ESAD-UK 8 124092519 124092519 single base substitution G A upstream_gene_variant ESAD-UK 8 124096163 124096163 single base substitution G A exon_variant ESAD-UK 8 124096163 124096163 single base substitution G A intron_variant ESAD-UK 8 124096729 124096729 single base substitution G A downstream_gene_variant ESAD-UK 8 124096729 124096729 single base substitution G A intron_variant ESAD-UK 8 124098293 124098293 single base substitution C T downstream_gene_variant ESAD-UK 8 124098293 124098293 single base substitution C T intron_variant ESAD-UK 8 124098789 124098789 single base substitution C T downstream_gene_variant ESAD-UK 8 124098789 124098789 single base substitution C T intron_variant ESAD-UK 8 124098982 124098982 single base substitution C T downstream_gene_variant ESAD-UK 8 124098982 124098982 single base substitution C T intron_variant ESAD-UK 8 124100344 124100344 single base substitution G T downstream_gene_variant ESAD-UK 8 124100344 124100344 single base substitution G T intron_variant ESAD-UK 8 124100797 124100797 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 124100797 124100797 deletion of <=200bp T - intron_variant ESAD-UK 8 124103452 124103452 single base substitution A G intron_variant ESAD-UK 8 124103452 124103452 single base substitution A G upstream_gene_variant ESAD-UK 8 124106836 124106836 single base substitution A G downstream_gene_variant ESAD-UK 8 124106836 124106836 single base substitution A G intron_variant ESAD-UK 8 124107673 124107673 single base substitution A C downstream_gene_variant ESAD-UK 8 124107673 124107673 single base substitution A C intron_variant ESAD-UK 8 124112822 124112822 insertion of <=200bp - AAT downstream_gene_variant ESAD-UK 8 124112822 124112822 insertion of <=200bp - AAT intron_variant ESAD-UK 8 124112822 124112822 insertion of <=200bp - AAT upstream_gene_variant ESAD-UK 8 124113079 124113079 single base substitution G C 3_prime_UTR_variant ESAD-UK 8 124113079 124113079 single base substitution G C downstream_gene_variant ESAD-UK 8 124113079 124113079 single base substitution G C exon_variant ESAD-UK 8 124113079 124113079 single base substitution G C intron_variant ESAD-UK 8 124113079 124113079 single base substitution G C missense_variant M183I 549G>C ESAD-UK 8 124113079 124113079 single base substitution G C missense_variant M288I 864G>C ESAD-UK 8 124113079 124113079 single base substitution G C missense_variant M91I 273G>C ESAD-UK 8 124113079 124113079 single base substitution G C upstream_gene_variant ESAD-UK 8 124113410 124113410 insertion of <=200bp - G downstream_gene_variant ESAD-UK 8 124113410 124113410 insertion of <=200bp - G intron_variant ESAD-UK 8 124115780 124115780 single base substitution A G 3_prime_UTR_variant ESAD-UK 8 124115780 124115780 single base substitution A G downstream_gene_variant ESAD-UK 8 124115780 124115780 single base substitution A G intron_variant ESAD-UK 8 124119223 124119223 single base substitution G A downstream_gene_variant ESAD-UK 8 124119223 124119223 single base substitution G A intron_variant ESAD-UK 8 124119223 124119223 single base substitution G A upstream_gene_variant ESAD-UK 8 124119453 124119453 single base substitution C A downstream_gene_variant ESAD-UK 8 124119453 124119453 single base substitution C A intron_variant ESAD-UK 8 124119453 124119453 single base substitution C A upstream_gene_variant ESAD-UK 8 124119994 124119994 single base substitution G C downstream_gene_variant ESAD-UK 8 124119994 124119994 single base substitution G C intron_variant ESAD-UK 8 124119994 124119994 single base substitution G C upstream_gene_variant ESAD-UK 8 124120574 124120574 single base substitution A G downstream_gene_variant ESAD-UK 8 124120574 124120574 single base substitution A G intron_variant ESAD-UK 8 124120574 124120574 single base substitution A G upstream_gene_variant ESAD-UK 8 124122898 124122898 single base substitution C T downstream_gene_variant ESAD-UK 8 124122898 124122898 single base substitution C T intron_variant ESAD-UK 8 124123342 124123342 single base substitution C T downstream_gene_variant ESAD-UK 8 124123342 124123342 single base substitution C T intron_variant ESAD-UK 8 124128003 124128003 single base substitution C T intron_variant ESAD-UK 8 124130476 124130476 single base substitution G A intron_variant ESAD-UK 8 124130610 124130610 deletion of <=200bp T - intron_variant ESAD-UK 8 124130610 124130610 insertion of <=200bp - T intron_variant ESAD-UK 8 124130847 124130847 single base substitution C T intron_variant ESAD-UK 8 124132008 124132008 single base substitution C T intron_variant ESAD-UK 8 124132568 124132568 single base substitution A G intron_variant ESAD-UK 8 124134657 124134657 single base substitution T A intron_variant ESAD-UK 8 124135418 124135418 single base substitution G A intron_variant ESAD-UK 8 124135418 124135418 single base substitution G A upstream_gene_variant ESAD-UK 8 124137314 124137314 single base substitution C T intron_variant ESAD-UK 8 124137314 124137314 single base substitution C T upstream_gene_variant ESAD-UK 8 124137490 124137490 single base substitution G A intron_variant ESAD-UK 8 124137490 124137490 single base substitution G A upstream_gene_variant ESAD-UK 8 124139031 124139031 single base substitution G T intron_variant ESAD-UK 8 124139031 124139031 single base substitution G T upstream_gene_variant ESAD-UK 8 124140810 124140810 single base substitution G C intron_variant ESAD-UK 8 124145770 124145770 single base substitution C T downstream_gene_variant ESAD-UK 8 124145770 124145770 single base substitution C T intron_variant ESAD-UK 8 124145996 124145996 single base substitution A C downstream_gene_variant ESAD-UK 8 124145996 124145996 single base substitution A C intron_variant ESAD-UK 8 124151281 124151281 single base substitution C G intron_variant ESAD-UK 8 124154122 124154122 single base substitution A T intron_variant ESAD-UK 8 124155160 124155160 single base substitution G A downstream_gene_variant ESAD-UK 8 124155160 124155160 single base substitution G A intron_variant ESAD-UK 8 124155313 124155313 single base substitution C A downstream_gene_variant ESAD-UK 8 124155313 124155313 single base substitution C A intron_variant ESAD-UK 8 124155453 124155453 single base substitution T G downstream_gene_variant ESAD-UK 8 124155453 124155453 single base substitution T G intron_variant ESAD-UK 8 124156318 124156318 single base substitution A C downstream_gene_variant ESAD-UK 8 124156318 124156318 single base substitution A C intron_variant ESAD-UK 8 124157899 124157899 single base substitution C G downstream_gene_variant ESAD-UK 8 124157899 124157899 single base substitution C G intron_variant ESAD-UK 8 124158671 124158671 single base substitution T A downstream_gene_variant ESAD-UK 8 124158671 124158671 single base substitution T A intron_variant ESAD-UK 8 124159621 124159621 single base substitution C A downstream_gene_variant ESAD-UK 8 124159621 124159621 single base substitution C A intron_variant ESAD-UK 8 124161876 124161876 single base substitution C T intron_variant ESAD-UK 8 124162151 124162151 single base substitution A C intron_variant ESAD-UK 8 124165065 124165065 single base substitution C T downstream_gene_variant ESAD-UK 8 124165303 124165303 single base substitution G A downstream_gene_variant ESAD-UK 8 124166189 124166189 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 124169270 124169270 single base substitution C G downstream_gene_variant ESCA-CN 8 124138925 124138925 single base substitution G C missense_variant E261Q 781G>C ESCA-CN 8 124138925 124138925 single base substitution G C missense_variant E505Q 1513G>C ESCA-CN 8 124138925 124138925 single base substitution G C missense_variant E523Q 1567G>C ESCA-CN 8 124138925 124138925 single base substitution G C missense_variant E628Q 1882G>C ESCA-CN 8 124138925 124138925 single base substitution G C splice_region_variant ESCA-CN 8 124138925 124138925 single base substitution G C upstream_gene_variant ESCA-CN 8 124140712 124140712 single base substitution A T 3_prime_UTR_variant ESCA-CN 8 124140712 124140712 single base substitution A T exon_variant ESCA-CN 8 124140712 124140712 single base substitution A T intron_variant ESCA-CN 8 124140712 124140712 single base substitution A T synonymous_variant R569R 1707A>T ESCA-CN 8 124140712 124140712 single base substitution A T synonymous_variant R587R 1761A>T ESCA-CN 8 124140712 124140712 single base substitution A T synonymous_variant R692R 2076A>T ESCA-CN 8 124146407 124146407 single base substitution A T 3_prime_UTR_variant ESCA-CN 8 124146407 124146407 single base substitution A T downstream_gene_variant ESCA-CN 8 124146407 124146407 single base substitution A T intron_variant ESCA-CN 8 124146407 124146407 single base substitution A T missense_variant R374S 1122A>T ESCA-CN 8 124146407 124146407 single base substitution A T missense_variant R697S 2091A>T ESCA-CN 8 124146407 124146407 single base substitution A T missense_variant R715S 2145A>T ESCA-CN 8 124146407 124146407 single base substitution A T missense_variant R820S 2460A>T ESCA-CN 8 124156963 124156963 single base substitution G T 3_prime_UTR_variant ESCA-CN 8 124156963 124156963 single base substitution G T downstream_gene_variant ESCA-CN 8 124156963 124156963 single base substitution G T stop_gained E502* 1504G>T ESCA-CN 8 124156963 124156963 single base substitution G T stop_gained E825* 2473G>T ESCA-CN 8 124156963 124156963 single base substitution G T stop_gained E843* 2527G>T ESCA-CN 8 124156963 124156963 single base substitution G T stop_gained E852* 2554G>T ESCA-CN 8 124156963 124156963 single base substitution G T stop_gained E883* 2647G>T ESCA-CN 8 124156963 124156963 single base substitution G T stop_gained E948* 2842G>T GBM-US 8 124109565 124109565 single base substitution C T 3_prime_UTR_variant GBM-US 8 124109565 124109565 single base substitution C T downstream_gene_variant GBM-US 8 124109565 124109565 single base substitution C T exon_variant GBM-US 8 124109565 124109565 single base substitution C T intron_variant GBM-US 8 124109565 124109565 single base substitution C T missense_variant H134Y 400C>T GBM-US 8 124109565 124109565 single base substitution C T missense_variant H229Y 685C>T GBM-US 8 124109565 124109565 single base substitution C T missense_variant H239Y 715C>T GBM-US 8 124109565 124109565 single base substitution C T missense_variant H42Y 124C>T GBM-US 8 124109565 124109565 single base substitution C T upstream_gene_variant GBM-US 8 124140520 124140520 insertion of <=200bp - T exon_variant GBM-US 8 124140520 124140520 insertion of <=200bp - T intron_variant GBM-US 8 124140520 124140520 insertion of <=200bp - T splice_acceptor_variant KIRC-US 8 124138304 124138304 single base substitution T A 3_prime_UTR_variant KIRC-US 8 124138304 124138304 single base substitution T A exon_variant KIRC-US 8 124138304 124138304 single base substitution T A missense_variant C160S 478T>A KIRC-US 8 124138304 124138304 single base substitution T A missense_variant C404S 1210T>A KIRC-US 8 124138304 124138304 single base substitution T A missense_variant C422S 1264T>A KIRC-US 8 124138304 124138304 single base substitution T A missense_variant C527S 1579T>A KIRC-US 8 124138304 124138304 single base substitution T A upstream_gene_variant KIRP-US 8 124094982 124094982 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant KIRP-US 8 124094982 124094982 single base substitution C A exon_variant KIRP-US 8 124094982 124094982 single base substitution C A intron_variant KIRP-US 8 124094982 124094982 single base substitution C A missense_variant L79M 235C>A KIRP-US 8 124094982 124094982 single base substitution C A missense_variant L89M 265C>A KIRP-US 8 124154514 124154514 single base substitution A T exon_variant KIRP-US 8 124154514 124154514 single base substitution A T intron_variant KIRP-US 8 124154514 124154514 single base substitution A T missense_variant N439Y 1315A>T KIRP-US 8 124154514 124154514 single base substitution A T missense_variant N762Y 2284A>T KIRP-US 8 124154514 124154514 single base substitution A T missense_variant N780Y 2338A>T KIRP-US 8 124154514 124154514 single base substitution A T missense_variant N885Y 2653A>T LAML-KR 8 124071648 124071648 single base substitution A G intron_variant LAML-KR 8 124079505 124079505 single base substitution A G intron_variant LAML-KR 8 124154697 124154697 single base substitution G T downstream_gene_variant LAML-KR 8 124154697 124154697 single base substitution G T intron_variant LAML-KR 8 124154697 124154697 single base substitution G T splice_donor_variant LGG-US 8 124105886 124105886 deletion of <=200bp T - 3_prime_UTR_variant LGG-US 8 124105886 124105886 deletion of <=200bp T - downstream_gene_variant LGG-US 8 124105886 124105886 deletion of <=200bp T - exon_variant LGG-US 8 124105886 124105886 deletion of <=200bp T - frameshift_variant I182 LGG-US 8 124105886 124105886 deletion of <=200bp T - frameshift_variant I192 LGG-US 8 124105886 124105886 deletion of <=200bp T - frameshift_variant I87 LGG-US 8 124105886 124105886 deletion of <=200bp T - intron_variant LGG-US 8 124105886 124105886 deletion of <=200bp T - upstream_gene_variant LGG-US 8 124117596 124117596 single base substitution G T 3_prime_UTR_variant LGG-US 8 124117596 124117596 single base substitution G T 5_prime_UTR_variant LGG-US 8 124117596 124117596 single base substitution G T downstream_gene_variant LGG-US 8 124117596 124117596 single base substitution G T missense_variant K262N 786G>T LGG-US 8 124117596 124117596 single base substitution G T missense_variant K35N 105G>T LGG-US 8 124117596 124117596 single base substitution G T missense_variant K367N 1101G>T LGG-US 8 124117596 124117596 single base substitution G T upstream_gene_variant LICA-CN 8 124085048 124085048 single base substitution G C 5_prime_UTR_variant LICA-CN 8 124085048 124085048 single base substitution G C exon_variant LICA-CN 8 124085048 124085048 single base substitution G C intron_variant LICA-CN 8 124085048 124085048 single base substitution G C missense_variant K13N 39G>C LICA-CN 8 124085048 124085048 single base substitution G C upstream_gene_variant LICA-CN 8 124105909 124105909 single base substitution C T 3_prime_UTR_variant LICA-CN 8 124105909 124105909 single base substitution C T downstream_gene_variant LICA-CN 8 124105909 124105909 single base substitution C T exon_variant LICA-CN 8 124105909 124105909 single base substitution C T intron_variant LICA-CN 8 124105909 124105909 single base substitution C T missense_variant L190F 568C>T LICA-CN 8 124105909 124105909 single base substitution C T missense_variant L200F 598C>T LICA-CN 8 124105909 124105909 single base substitution C T missense_variant L3F 7C>T LICA-CN 8 124105909 124105909 single base substitution C T missense_variant L95F 283C>T LICA-FR 8 124060919 124060919 single base substitution G T intron_variant LICA-FR 8 124082115 124082115 insertion of <=200bp - A intron_variant LICA-FR 8 124082115 124082115 insertion of <=200bp - A upstream_gene_variant LICA-FR 8 124088815 124088815 single base substitution G A intron_variant LICA-FR 8 124096399 124096399 single base substitution C G exon_variant LICA-FR 8 124096399 124096399 single base substitution C G intron_variant LICA-FR 8 124096399 124096399 single base substitution C G splice_region_variant LICA-FR 8 124117969 124117969 single base substitution A C downstream_gene_variant LICA-FR 8 124117969 124117969 single base substitution A C intron_variant LICA-FR 8 124117969 124117969 single base substitution A C upstream_gene_variant LICA-FR 8 124121612 124121612 single base substitution A T 3_prime_UTR_variant LICA-FR 8 124121612 124121612 single base substitution A T exon_variant LICA-FR 8 124121612 124121612 single base substitution A T missense_variant Y317F 950A>T LICA-FR 8 124121612 124121612 single base substitution A T missense_variant Y422F 1265A>T LICA-FR 8 124121612 124121612 single base substitution A T missense_variant Y55F 164A>T LICA-FR 8 124121612 124121612 single base substitution A T missense_variant Y90F 269A>T LICA-FR 8 124137014 124137014 insertion of <=200bp - AA intron_variant LICA-FR 8 124137014 124137014 insertion of <=200bp - AA upstream_gene_variant LICA-FR 8 124164076 124164076 insertion of <=200bp - AC 3_prime_UTR_variant LICA-FR 8 124164076 124164076 insertion of <=200bp - AC frameshift_variant D1033D? LICA-FR 8 124164076 124164076 insertion of <=200bp - AC frameshift_variant D587D? LICA-FR 8 124164076 124164076 insertion of <=200bp - AC frameshift_variant D910D? LICA-FR 8 124164076 124164076 insertion of <=200bp - AC frameshift_variant D928D? LICA-FR 8 124164076 124164076 insertion of <=200bp - AC frameshift_variant D937D? LICA-FR 8 124164076 124164076 insertion of <=200bp - AC frameshift_variant D968D? LIHC-US 8 124054284 124054284 single base substitution A G 5_prime_UTR_variant LINC-JP 8 124049763 124049763 single base substitution G C upstream_gene_variant LINC-JP 8 124050783 124050783 single base substitution T C upstream_gene_variant LINC-JP 8 124054084 124054084 single base substitution C G upstream_gene_variant LINC-JP 8 124054294 124054294 single base substitution G A 5_prime_UTR_variant LINC-JP 8 124055838 124055838 single base substitution G T intron_variant LINC-JP 8 124057578 124057578 single base substitution A G intron_variant LINC-JP 8 124079491 124079491 single base substitution G T intron_variant LINC-JP 8 124094757 124094757 single base substitution T C exon_variant LINC-JP 8 124094757 124094757 single base substitution T C intron_variant LINC-JP 8 124120687 124120687 single base substitution G T downstream_gene_variant LINC-JP 8 124120687 124120687 single base substitution G T intron_variant LINC-JP 8 124120687 124120687 single base substitution G T upstream_gene_variant LINC-JP 8 124121840 124121840 single base substitution G A 3_prime_UTR_variant LINC-JP 8 124121840 124121840 single base substitution G A exon_variant LINC-JP 8 124121840 124121840 single base substitution G A synonymous_variant K105K 315G>A LINC-JP 8 124121840 124121840 single base substitution G A synonymous_variant K140K 420G>A LINC-JP 8 124121840 124121840 single base substitution G A synonymous_variant K349K 1047G>A LINC-JP 8 124121840 124121840 single base substitution G A synonymous_variant K367K 1101G>A LINC-JP 8 124121840 124121840 single base substitution G A synonymous_variant K472K 1416G>A LINC-JP 8 124124163 124124163 single base substitution A C downstream_gene_variant LINC-JP 8 124124163 124124163 single base substitution A C intron_variant LINC-JP 8 124154753 124154753 single base substitution T A downstream_gene_variant LINC-JP 8 124154753 124154753 single base substitution T A intron_variant LINC-JP 8 124156018 124156018 single base substitution A C downstream_gene_variant LINC-JP 8 124156018 124156018 single base substitution A C intron_variant LIRI-JP 8 124051436 124051436 single base substitution A G upstream_gene_variant LIRI-JP 8 124052454 124052454 single base substitution T A upstream_gene_variant LIRI-JP 8 124052705 124052705 single base substitution T G upstream_gene_variant LIRI-JP 8 124053106 124053106 single base substitution T C upstream_gene_variant LIRI-JP 8 124053298 124053298 single base substitution G A upstream_gene_variant LIRI-JP 8 124054751 124054751 single base substitution C T intron_variant LIRI-JP 8 124057228 124057228 single base substitution C G intron_variant LIRI-JP 8 124061780 124061780 single base substitution G T intron_variant LIRI-JP 8 124064963 124064963 single base substitution G A intron_variant LIRI-JP 8 124066310 124066310 single base substitution T C intron_variant LIRI-JP 8 124070405 124070405 single base substitution T C intron_variant LIRI-JP 8 124070842 124070842 single base substitution A C intron_variant LIRI-JP 8 124071929 124071929 single base substitution G T intron_variant LIRI-JP 8 124074660 124074660 single base substitution T C intron_variant LIRI-JP 8 124075522 124075522 single base substitution A G intron_variant LIRI-JP 8 124077042 124077042 single base substitution A G intron_variant LIRI-JP 8 124077862 124077862 single base substitution A G intron_variant LIRI-JP 8 124079596 124079596 single base substitution C T intron_variant LIRI-JP 8 124079832 124079832 single base substitution G C intron_variant LIRI-JP 8 124089226 124089226 single base substitution G A intron_variant LIRI-JP 8 124094166 124094166 single base substitution G A intron_variant LIRI-JP 8 124094166 124094166 single base substitution G A upstream_gene_variant LIRI-JP 8 124094717 124094717 single base substitution A G intron_variant LIRI-JP 8 124094717 124094717 single base substitution A G upstream_gene_variant LIRI-JP 8 124095463 124095463 single base substitution G A exon_variant LIRI-JP 8 124095463 124095463 single base substitution G A intron_variant LIRI-JP 8 124100674 124100674 single base substitution T C downstream_gene_variant LIRI-JP 8 124100674 124100674 single base substitution T C intron_variant LIRI-JP 8 124106409 124106409 single base substitution A G downstream_gene_variant LIRI-JP 8 124106409 124106409 single base substitution A G intron_variant LIRI-JP 8 124107639 124107639 single base substitution C T downstream_gene_variant LIRI-JP 8 124107639 124107639 single base substitution C T intron_variant LIRI-JP 8 124108898 124108898 single base substitution T C downstream_gene_variant LIRI-JP 8 124108898 124108898 single base substitution T C intron_variant LIRI-JP 8 124108898 124108898 single base substitution T C upstream_gene_variant LIRI-JP 8 124112115 124112115 single base substitution A G downstream_gene_variant LIRI-JP 8 124112115 124112115 single base substitution A G intron_variant LIRI-JP 8 124112115 124112115 single base substitution A G upstream_gene_variant LIRI-JP 8 124113841 124113841 single base substitution G A downstream_gene_variant LIRI-JP 8 124113841 124113841 single base substitution G A intron_variant LIRI-JP 8 124116309 124116309 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 124116309 124116309 single base substitution A G downstream_gene_variant LIRI-JP 8 124116309 124116309 single base substitution A G intron_variant LIRI-JP 8 124117504 124117504 single base substitution A G downstream_gene_variant LIRI-JP 8 124117504 124117504 single base substitution A G intron_variant LIRI-JP 8 124117504 124117504 single base substitution A G upstream_gene_variant LIRI-JP 8 124117859 124117859 single base substitution C G downstream_gene_variant LIRI-JP 8 124117859 124117859 single base substitution C G intron_variant LIRI-JP 8 124117859 124117859 single base substitution C G upstream_gene_variant LIRI-JP 8 124121422 124121422 single base substitution G T downstream_gene_variant LIRI-JP 8 124121422 124121422 single base substitution G T intron_variant LIRI-JP 8 124121422 124121422 single base substitution G T upstream_gene_variant LIRI-JP 8 124125066 124125066 single base substitution A G downstream_gene_variant LIRI-JP 8 124125066 124125066 single base substitution A G intron_variant LIRI-JP 8 124125507 124125507 single base substitution A G downstream_gene_variant LIRI-JP 8 124125507 124125507 single base substitution A G intron_variant LIRI-JP 8 124131475 124131475 single base substitution G T intron_variant LIRI-JP 8 124133649 124133649 single base substitution T A intron_variant LIRI-JP 8 124134792 124134792 single base substitution G T intron_variant LIRI-JP 8 124138593 124138593 single base substitution G A intron_variant LIRI-JP 8 124138593 124138593 single base substitution G A upstream_gene_variant LIRI-JP 8 124138807 124138807 single base substitution G T 3_prime_UTR_variant LIRI-JP 8 124138807 124138807 single base substitution G T missense_variant W221C 663G>T LIRI-JP 8 124138807 124138807 single base substitution G T missense_variant W465C 1395G>T LIRI-JP 8 124138807 124138807 single base substitution G T missense_variant W483C 1449G>T LIRI-JP 8 124138807 124138807 single base substitution G T missense_variant W588C 1764G>T LIRI-JP 8 124138807 124138807 single base substitution G T upstream_gene_variant LIRI-JP 8 124142055 124142055 single base substitution A G downstream_gene_variant LIRI-JP 8 124142055 124142055 single base substitution A G intron_variant LIRI-JP 8 124142776 124142776 single base substitution A G downstream_gene_variant LIRI-JP 8 124142776 124142776 single base substitution A G intron_variant LIRI-JP 8 124147046 124147046 single base substitution C T intron_variant LIRI-JP 8 124149800 124149800 single base substitution C T intron_variant LIRI-JP 8 124151664 124151664 single base substitution G T intron_variant LIRI-JP 8 124153832 124153832 single base substitution A G intron_variant LIRI-JP 8 124154343 124154343 single base substitution C G intron_variant LIRI-JP 8 124156191 124156191 single base substitution C T downstream_gene_variant LIRI-JP 8 124156191 124156191 single base substitution C T intron_variant LIRI-JP 8 124160942 124160942 single base substitution T C intron_variant LIRI-JP 8 124161397 124161397 single base substitution A G intron_variant LIRI-JP 8 124163320 124163320 single base substitution C A intron_variant LIRI-JP 8 124163727 124163727 single base substitution A G intron_variant LIRI-JP 8 124165648 124165648 single base substitution A G downstream_gene_variant LIRI-JP 8 124165807 124165807 single base substitution A G downstream_gene_variant LIRI-JP 8 124166994 124166994 single base substitution T A downstream_gene_variant LIRI-JP 8 124168094 124168094 single base substitution A G downstream_gene_variant LUSC-KR 8 124052384 124052384 single base substitution G A upstream_gene_variant LUSC-KR 8 124054395 124054395 single base substitution C T 5_prime_UTR_variant LUSC-KR 8 124066699 124066699 single base substitution G T intron_variant LUSC-KR 8 124070149 124070149 single base substitution G T intron_variant LUSC-KR 8 124072393 124072393 single base substitution A G intron_variant LUSC-KR 8 124075179 124075179 single base substitution G T intron_variant LUSC-KR 8 124075622 124075622 single base substitution G A intron_variant LUSC-KR 8 124077359 124077359 single base substitution A T intron_variant LUSC-KR 8 124084787 124084787 single base substitution G T intron_variant LUSC-KR 8 124084787 124084787 single base substitution G T upstream_gene_variant LUSC-KR 8 124094005 124094005 single base substitution G C intron_variant LUSC-KR 8 124094005 124094005 single base substitution G C upstream_gene_variant LUSC-KR 8 124094727 124094727 single base substitution G A intron_variant LUSC-KR 8 124094727 124094727 single base substitution G A upstream_gene_variant LUSC-KR 8 124095366 124095366 single base substitution G A exon_variant LUSC-KR 8 124095366 124095366 single base substitution G A intron_variant LUSC-KR 8 124095818 124095818 single base substitution C T exon_variant LUSC-KR 8 124095818 124095818 single base substitution C T intron_variant LUSC-KR 8 124100193 124100193 single base substitution C T downstream_gene_variant LUSC-KR 8 124100193 124100193 single base substitution C T intron_variant LUSC-KR 8 124102329 124102329 single base substitution A T intron_variant LUSC-KR 8 124102329 124102329 single base substitution A T upstream_gene_variant LUSC-KR 8 124105786 124105786 single base substitution T C intron_variant LUSC-KR 8 124105786 124105786 single base substitution T C upstream_gene_variant LUSC-KR 8 124106313 124106313 single base substitution C G downstream_gene_variant LUSC-KR 8 124106313 124106313 single base substitution C G intron_variant LUSC-KR 8 124113292 124113292 single base substitution A G downstream_gene_variant LUSC-KR 8 124113292 124113292 single base substitution A G exon_variant LUSC-KR 8 124113292 124113292 single base substitution A G intron_variant LUSC-KR 8 124116959 124116959 single base substitution A G downstream_gene_variant LUSC-KR 8 124116959 124116959 single base substitution A G intron_variant LUSC-KR 8 124116959 124116959 single base substitution A G upstream_gene_variant LUSC-KR 8 124123082 124123082 single base substitution C G downstream_gene_variant LUSC-KR 8 124123082 124123082 single base substitution C G intron_variant LUSC-KR 8 124138855 124138855 single base substitution G A 3_prime_UTR_variant LUSC-KR 8 124138855 124138855 single base substitution G A synonymous_variant L237L 711G>A LUSC-KR 8 124138855 124138855 single base substitution G A synonymous_variant L481L 1443G>A LUSC-KR 8 124138855 124138855 single base substitution G A synonymous_variant L499L 1497G>A LUSC-KR 8 124138855 124138855 single base substitution G A synonymous_variant L604L 1812G>A LUSC-KR 8 124138855 124138855 single base substitution G A upstream_gene_variant LUSC-KR 8 124141574 124141574 single base substitution G T downstream_gene_variant LUSC-KR 8 124141574 124141574 single base substitution G T intron_variant LUSC-KR 8 124142489 124142489 single base substitution T C 3_prime_UTR_variant LUSC-KR 8 124142489 124142489 single base substitution T C downstream_gene_variant LUSC-KR 8 124142489 124142489 single base substitution T C exon_variant LUSC-KR 8 124142489 124142489 single base substitution T C synonymous_variant D328D 984T>C LUSC-KR 8 124142489 124142489 single base substitution T C synonymous_variant D651D 1953T>C LUSC-KR 8 124142489 124142489 single base substitution T C synonymous_variant D669D 2007T>C LUSC-KR 8 124142489 124142489 single base substitution T C synonymous_variant D774D 2322T>C LUSC-KR 8 124152591 124152591 single base substitution G T intron_variant LUSC-KR 8 124154697 124154697 single base substitution G T downstream_gene_variant LUSC-KR 8 124154697 124154697 single base substitution G T intron_variant LUSC-KR 8 124154697 124154697 single base substitution G T splice_donor_variant LUSC-KR 8 124164636 124164636 single base substitution C T downstream_gene_variant LUSC-US 8 124054246 124054246 single base substitution G A 5_prime_UTR_variant LUSC-US 8 124132320 124132320 single base substitution T A 3_prime_UTR_variant LUSC-US 8 124132320 124132320 single base substitution T A intron_variant LUSC-US 8 124132320 124132320 single base substitution T A missense_variant S121T 361T>A LUSC-US 8 124132320 124132320 single base substitution T A missense_variant S365T 1093T>A LUSC-US 8 124132320 124132320 single base substitution T A missense_variant S383T 1147T>A LUSC-US 8 124132320 124132320 single base substitution T A missense_variant S488T 1462T>A LUSC-US 8 124132346 124132346 single base substitution T A 3_prime_UTR_variant LUSC-US 8 124132346 124132346 single base substitution T A intron_variant LUSC-US 8 124132346 124132346 single base substitution T A stop_gained Y129* 387T>A LUSC-US 8 124132346 124132346 single base substitution T A stop_gained Y373* 1119T>A LUSC-US 8 124132346 124132346 single base substitution T A stop_gained Y391* 1173T>A LUSC-US 8 124132346 124132346 single base substitution T A stop_gained Y496* 1488T>A LUSC-US 8 124132347 124132347 single base substitution C T 3_prime_UTR_variant LUSC-US 8 124132347 124132347 single base substitution C T intron_variant LUSC-US 8 124132347 124132347 single base substitution C T missense_variant L130F 388C>T LUSC-US 8 124132347 124132347 single base substitution C T missense_variant L374F 1120C>T LUSC-US 8 124132347 124132347 single base substitution C T missense_variant L392F 1174C>T LUSC-US 8 124132347 124132347 single base substitution C T missense_variant L497F 1489C>T LUSC-US 8 124140744 124140744 single base substitution T C 3_prime_UTR_variant LUSC-US 8 124140744 124140744 single base substitution T C exon_variant LUSC-US 8 124140744 124140744 single base substitution T C intron_variant LUSC-US 8 124140744 124140744 single base substitution T C missense_variant L580S 1739T>C LUSC-US 8 124140744 124140744 single base substitution T C missense_variant L598S 1793T>C LUSC-US 8 124140744 124140744 single base substitution T C missense_variant L703S 2108T>C LUSC-US 8 124146370 124146370 single base substitution G T 3_prime_UTR_variant LUSC-US 8 124146370 124146370 single base substitution G T downstream_gene_variant LUSC-US 8 124146370 124146370 single base substitution G T intron_variant LUSC-US 8 124146370 124146370 single base substitution G T missense_variant R362L 1085G>T LUSC-US 8 124146370 124146370 single base substitution G T missense_variant R685L 2054G>T LUSC-US 8 124146370 124146370 single base substitution G T missense_variant R703L 2108G>T LUSC-US 8 124146370 124146370 single base substitution G T missense_variant R808L 2423G>T LUSC-US 8 124146371 124146371 single base substitution A T 3_prime_UTR_variant LUSC-US 8 124146371 124146371 single base substitution A T downstream_gene_variant LUSC-US 8 124146371 124146371 single base substitution A T intron_variant LUSC-US 8 124146371 124146371 single base substitution A T synonymous_variant R362R 1086A>T LUSC-US 8 124146371 124146371 single base substitution A T synonymous_variant R685R 2055A>T LUSC-US 8 124146371 124146371 single base substitution A T synonymous_variant R703R 2109A>T LUSC-US 8 124146371 124146371 single base substitution A T synonymous_variant R808R 2424A>T LUSC-US 8 124157029 124157029 single base substitution A G 3_prime_UTR_variant LUSC-US 8 124157029 124157029 single base substitution A G downstream_gene_variant LUSC-US 8 124157029 124157029 single base substitution A G missense_variant R524G 1570A>G LUSC-US 8 124157029 124157029 single base substitution A G missense_variant R847G 2539A>G LUSC-US 8 124157029 124157029 single base substitution A G missense_variant R865G 2593A>G LUSC-US 8 124157029 124157029 single base substitution A G missense_variant R874G 2620A>G LUSC-US 8 124157029 124157029 single base substitution A G missense_variant R905G 2713A>G LUSC-US 8 124157029 124157029 single base substitution A G missense_variant R970G 2908A>G LUSC-US 8 124157050 124157050 single base substitution G T 3_prime_UTR_variant LUSC-US 8 124157050 124157050 single base substitution G T downstream_gene_variant LUSC-US 8 124157050 124157050 single base substitution G T stop_gained E531* 1591G>T LUSC-US 8 124157050 124157050 single base substitution G T stop_gained E854* 2560G>T LUSC-US 8 124157050 124157050 single base substitution G T stop_gained E872* 2614G>T LUSC-US 8 124157050 124157050 single base substitution G T stop_gained E881* 2641G>T LUSC-US 8 124157050 124157050 single base substitution G T stop_gained E912* 2734G>T LUSC-US 8 124157050 124157050 single base substitution G T stop_gained E977* 2929G>T MALY-DE 8 124049754 124049754 insertion of <=200bp - A upstream_gene_variant MALY-DE 8 124069645 124069645 single base substitution G A intron_variant MALY-DE 8 124071132 124071132 single base substitution T A intron_variant MALY-DE 8 124073661 124073661 single base substitution T C intron_variant MALY-DE 8 124080524 124080524 single base substitution T G intron_variant MALY-DE 8 124080524 124080524 single base substitution T G upstream_gene_variant MALY-DE 8 124085527 124085527 single base substitution C T 5_prime_UTR_variant MALY-DE 8 124085527 124085527 single base substitution C T intron_variant MALY-DE 8 124085527 124085527 single base substitution C T upstream_gene_variant MALY-DE 8 124085818 124085818 single base substitution C T intron_variant MALY-DE 8 124085818 124085818 single base substitution C T upstream_gene_variant MALY-DE 8 124086829 124086829 single base substitution A G intron_variant MALY-DE 8 124086829 124086829 single base substitution A G upstream_gene_variant MALY-DE 8 124089030 124089030 insertion of <=200bp - TGTC intron_variant MALY-DE 8 124090059 124090059 single base substitution C T intron_variant MALY-DE 8 124090059 124090059 single base substitution C T upstream_gene_variant MALY-DE 8 124097964 124097964 single base substitution T C downstream_gene_variant MALY-DE 8 124097964 124097964 single base substitution T C intron_variant MALY-DE 8 124108382 124108382 single base substitution A G downstream_gene_variant MALY-DE 8 124108382 124108382 single base substitution A G intron_variant MALY-DE 8 124108382 124108382 single base substitution A G upstream_gene_variant MALY-DE 8 124109022 124109022 single base substitution C G downstream_gene_variant MALY-DE 8 124109022 124109022 single base substitution C G intron_variant MALY-DE 8 124109022 124109022 single base substitution C G upstream_gene_variant MALY-DE 8 124111510 124111510 insertion of <=200bp - CCA downstream_gene_variant MALY-DE 8 124111510 124111510 insertion of <=200bp - CCA intron_variant MALY-DE 8 124111510 124111510 insertion of <=200bp - CCA upstream_gene_variant MALY-DE 8 124144622 124144627 deletion of <=200bp AATACT - downstream_gene_variant MALY-DE 8 124144622 124144627 deletion of <=200bp AATACT - intron_variant MALY-DE 8 124158938 124158938 single base substitution T C downstream_gene_variant MALY-DE 8 124158938 124158938 single base substitution T C intron_variant MALY-DE 8 124161144 124161144 single base substitution G A intron_variant MALY-DE 8 124161997 124161997 single base substitution C T intron_variant MELA-AU 8 124049415 124049415 single base substitution G A upstream_gene_variant MELA-AU 8 124050804 124050804 single base substitution T C upstream_gene_variant MELA-AU 8 124050814 124050814 single base substitution A T upstream_gene_variant MELA-AU 8 124051483 124051483 single base substitution T A upstream_gene_variant MELA-AU 8 124052509 124052509 single base substitution G A upstream_gene_variant MELA-AU 8 124053625 124053625 single base substitution G A upstream_gene_variant MELA-AU 8 124054555 124054555 single base substitution C T 5_prime_UTR_variant MELA-AU 8 124054557 124054557 single base substitution C T 5_prime_UTR_variant MELA-AU 8 124054557 124054558 multiple base substitution (>=2bp and <=200bp) CC TA 5_prime_UTR_variant MELA-AU 8 124054557 124054558 multiple base substitution (>=2bp and <=200bp) CC TC 5_prime_UTR_variant MELA-AU 8 124054557 124054558 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 8 124054558 124054558 single base substitution C T 5_prime_UTR_variant MELA-AU 8 124054562 124054562 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 124054566 124054566 single base substitution G A 5_prime_UTR_variant MELA-AU 8 124054569 124054569 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 8 124054572 124054572 single base substitution G A 5_prime_UTR_variant MELA-AU 8 124055381 124055381 single base substitution C G intron_variant MELA-AU 8 124056624 124056624 single base substitution C T intron_variant MELA-AU 8 124056781 124056781 single base substitution G A intron_variant MELA-AU 8 124056866 124056866 single base substitution C T intron_variant MELA-AU 8 124056868 124056868 single base substitution G A intron_variant MELA-AU 8 124057227 124057227 single base substitution C T intron_variant MELA-AU 8 124057655 124057655 single base substitution C T intron_variant MELA-AU 8 124057762 124057762 single base substitution C T intron_variant MELA-AU 8 124058519 124058519 single base substitution G A intron_variant MELA-AU 8 124058628 124058628 single base substitution G A intron_variant MELA-AU 8 124058726 124058726 single base substitution C T intron_variant MELA-AU 8 124058801 124058801 single base substitution G A intron_variant MELA-AU 8 124059124 124059124 single base substitution C T intron_variant MELA-AU 8 124059145 124059145 single base substitution C T intron_variant MELA-AU 8 124059292 124059292 single base substitution C T intron_variant MELA-AU 8 124059391 124059391 single base substitution G A intron_variant MELA-AU 8 124059551 124059551 single base substitution T G intron_variant MELA-AU 8 124059637 124059637 single base substitution A G intron_variant MELA-AU 8 124060036 124060036 single base substitution G A intron_variant MELA-AU 8 124060146 124060146 single base substitution C T intron_variant MELA-AU 8 124060274 124060274 single base substitution C T intron_variant MELA-AU 8 124060495 124060495 single base substitution C T intron_variant MELA-AU 8 124060675 124060675 single base substitution T G intron_variant MELA-AU 8 124061014 124061014 single base substitution C T intron_variant MELA-AU 8 124061282 124061282 single base substitution A G intron_variant MELA-AU 8 124061495 124061495 single base substitution T C intron_variant MELA-AU 8 124061992 124061992 single base substitution G A intron_variant MELA-AU 8 124062394 124062395 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 8 124062814 124062814 single base substitution G A intron_variant MELA-AU 8 124063073 124063073 single base substitution C T intron_variant MELA-AU 8 124063303 124063303 single base substitution C T intron_variant MELA-AU 8 124063496 124063496 single base substitution G A intron_variant MELA-AU 8 124063723 124063723 single base substitution G A intron_variant MELA-AU 8 124063772 124063772 single base substitution C T intron_variant MELA-AU 8 124063784 124063784 single base substitution G A intron_variant MELA-AU 8 124063962 124063962 single base substitution C T intron_variant MELA-AU 8 124064028 124064028 single base substitution G A intron_variant MELA-AU 8 124064131 124064131 single base substitution T A intron_variant MELA-AU 8 124064475 124064475 single base substitution G A intron_variant MELA-AU 8 124064647 124064647 single base substitution C T intron_variant MELA-AU 8 124064667 124064667 single base substitution A G intron_variant MELA-AU 8 124064997 124064997 single base substitution G A intron_variant MELA-AU 8 124065354 124065354 single base substitution C T intron_variant MELA-AU 8 124065367 124065367 single base substitution G A intron_variant MELA-AU 8 124065491 124065491 single base substitution C T intron_variant MELA-AU 8 124065752 124065752 single base substitution G A intron_variant MELA-AU 8 124065833 124065833 single base substitution C A intron_variant MELA-AU 8 124066108 124066108 single base substitution G A intron_variant MELA-AU 8 124066288 124066288 single base substitution G A intron_variant MELA-AU 8 124066529 124066529 single base substitution C T intron_variant MELA-AU 8 124066887 124066887 single base substitution G A intron_variant MELA-AU 8 124066915 124066915 single base substitution G A intron_variant MELA-AU 8 124067063 124067063 single base substitution G A intron_variant MELA-AU 8 124067103 124067103 single base substitution G A intron_variant MELA-AU 8 124067111 124067111 single base substitution G A intron_variant MELA-AU 8 124067650 124067650 single base substitution G A intron_variant MELA-AU 8 124067786 124067786 single base substitution G A intron_variant MELA-AU 8 124067862 124067862 single base substitution T C intron_variant MELA-AU 8 124068322 124068322 single base substitution C T intron_variant MELA-AU 8 124068525 124068525 single base substitution C A intron_variant MELA-AU 8 124068557 124068557 single base substitution C T intron_variant MELA-AU 8 124068798 124068798 single base substitution C T intron_variant MELA-AU 8 124068862 124068862 single base substitution T C intron_variant MELA-AU 8 124068909 124068910 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 124069055 124069055 single base substitution G A intron_variant MELA-AU 8 124069210 124069210 single base substitution G A intron_variant MELA-AU 8 124069464 124069464 single base substitution C T intron_variant MELA-AU 8 124069544 124069544 single base substitution G A intron_variant MELA-AU 8 124069853 124069853 single base substitution C T intron_variant MELA-AU 8 124069883 124069883 single base substitution A T intron_variant MELA-AU 8 124069905 124069905 single base substitution G A intron_variant MELA-AU 8 124069958 124069958 single base substitution G A intron_variant MELA-AU 8 124070078 124070078 single base substitution C T intron_variant MELA-AU 8 124070184 124070184 single base substitution C T intron_variant MELA-AU 8 124070619 124070619 single base substitution C T intron_variant MELA-AU 8 124070702 124070702 single base substitution T C intron_variant MELA-AU 8 124070787 124070787 single base substitution C T intron_variant MELA-AU 8 124070909 124070909 single base substitution G A intron_variant MELA-AU 8 124071134 124071134 single base substitution T C intron_variant MELA-AU 8 124071270 124071270 single base substitution C T intron_variant MELA-AU 8 124071903 124071903 single base substitution C T intron_variant MELA-AU 8 124072297 124072297 single base substitution C T intron_variant MELA-AU 8 124072339 124072339 single base substitution T C intron_variant MELA-AU 8 124072657 124072657 single base substitution C T intron_variant MELA-AU 8 124072705 124072705 single base substitution C T intron_variant MELA-AU 8 124072822 124072822 single base substitution C T intron_variant MELA-AU 8 124073426 124073426 single base substitution C T intron_variant MELA-AU 8 124073636 124073636 single base substitution G A intron_variant MELA-AU 8 124073930 124073930 single base substitution T C intron_variant MELA-AU 8 124074159 124074159 single base substitution C T intron_variant MELA-AU 8 124074284 124074284 single base substitution C T intron_variant MELA-AU 8 124074524 124074524 single base substitution G A intron_variant MELA-AU 8 124075191 124075191 single base substitution G A intron_variant MELA-AU 8 124075212 124075212 single base substitution C T intron_variant MELA-AU 8 124075376 124075376 single base substitution G T intron_variant MELA-AU 8 124075521 124075521 single base substitution C T intron_variant MELA-AU 8 124075679 124075679 single base substitution G A intron_variant MELA-AU 8 124075833 124075833 single base substitution C T intron_variant MELA-AU 8 124076029 124076029 single base substitution T A intron_variant MELA-AU 8 124076241 124076241 single base substitution C T intron_variant MELA-AU 8 124076336 124076336 single base substitution A T intron_variant MELA-AU 8 124076612 124076612 single base substitution C T intron_variant MELA-AU 8 124076701 124076701 single base substitution G A intron_variant MELA-AU 8 124076814 124076814 single base substitution T C intron_variant MELA-AU 8 124077012 124077012 single base substitution C T intron_variant MELA-AU 8 124077716 124077716 single base substitution C T intron_variant MELA-AU 8 124078433 124078433 single base substitution C T intron_variant MELA-AU 8 124078712 124078712 single base substitution G A intron_variant MELA-AU 8 124078800 124078800 single base substitution C T intron_variant MELA-AU 8 124079114 124079114 single base substitution G A intron_variant MELA-AU 8 124079442 124079442 single base substitution C T intron_variant MELA-AU 8 124080012 124080012 single base substitution C T intron_variant MELA-AU 8 124080012 124080012 single base substitution C T upstream_gene_variant MELA-AU 8 124080110 124080110 single base substitution G A intron_variant MELA-AU 8 124080110 124080110 single base substitution G A upstream_gene_variant MELA-AU 8 124080243 124080243 single base substitution A G intron_variant MELA-AU 8 124080243 124080243 single base substitution A G upstream_gene_variant MELA-AU 8 124080325 124080325 single base substitution G A intron_variant MELA-AU 8 124080325 124080325 single base substitution G A upstream_gene_variant MELA-AU 8 124080349 124080349 single base substitution C T intron_variant MELA-AU 8 124080349 124080349 single base substitution C T upstream_gene_variant MELA-AU 8 124080721 124080721 single base substitution G A intron_variant MELA-AU 8 124080721 124080721 single base substitution G A upstream_gene_variant MELA-AU 8 124080727 124080727 single base substitution G A intron_variant MELA-AU 8 124080727 124080727 single base substitution G A upstream_gene_variant MELA-AU 8 124080936 124080936 single base substitution G A intron_variant MELA-AU 8 124080936 124080936 single base substitution G A upstream_gene_variant MELA-AU 8 124081257 124081257 single base substitution C T intron_variant MELA-AU 8 124081257 124081257 single base substitution C T upstream_gene_variant MELA-AU 8 124081291 124081291 single base substitution G A intron_variant MELA-AU 8 124081291 124081291 single base substitution G A upstream_gene_variant MELA-AU 8 124081301 124081301 single base substitution C T intron_variant MELA-AU 8 124081301 124081301 single base substitution C T upstream_gene_variant MELA-AU 8 124081541 124081541 single base substitution G A intron_variant MELA-AU 8 124081541 124081541 single base substitution G A upstream_gene_variant MELA-AU 8 124081613 124081613 single base substitution G A intron_variant MELA-AU 8 124081613 124081613 single base substitution G A upstream_gene_variant MELA-AU 8 124081629 124081629 single base substitution C T intron_variant MELA-AU 8 124081629 124081629 single base substitution C T upstream_gene_variant MELA-AU 8 124081785 124081785 single base substitution T G intron_variant MELA-AU 8 124081785 124081785 single base substitution T G upstream_gene_variant MELA-AU 8 124082793 124082793 single base substitution C A intron_variant MELA-AU 8 124082793 124082793 single base substitution C A upstream_gene_variant MELA-AU 8 124083710 124083710 deletion of <=200bp G - intron_variant MELA-AU 8 124083710 124083710 deletion of <=200bp G - upstream_gene_variant MELA-AU 8 124083808 124083808 single base substitution T C intron_variant MELA-AU 8 124083808 124083808 single base substitution T C upstream_gene_variant MELA-AU 8 124084267 124084267 single base substitution G A intron_variant MELA-AU 8 124084267 124084267 single base substitution G A upstream_gene_variant MELA-AU 8 124084402 124084402 single base substitution G A intron_variant MELA-AU 8 124084402 124084402 single base substitution G A upstream_gene_variant MELA-AU 8 124084413 124084413 single base substitution G A intron_variant MELA-AU 8 124084413 124084413 single base substitution G A upstream_gene_variant MELA-AU 8 124084596 124084596 single base substitution G A intron_variant MELA-AU 8 124084596 124084596 single base substitution G A upstream_gene_variant MELA-AU 8 124084872 124084872 single base substitution T C intron_variant MELA-AU 8 124084872 124084872 single base substitution T C upstream_gene_variant MELA-AU 8 124085308 124085308 single base substitution G A intron_variant MELA-AU 8 124085308 124085308 single base substitution G A upstream_gene_variant MELA-AU 8 124086884 124086884 single base substitution C T intron_variant MELA-AU 8 124086884 124086884 single base substitution C T upstream_gene_variant MELA-AU 8 124087402 124087402 single base substitution T C intron_variant MELA-AU 8 124087588 124087588 single base substitution A G intron_variant MELA-AU 8 124087748 124087748 single base substitution C T intron_variant MELA-AU 8 124088125 124088125 single base substitution T C intron_variant MELA-AU 8 124088150 124088150 single base substitution C T intron_variant MELA-AU 8 124088353 124088353 single base substitution C T intron_variant MELA-AU 8 124088969 124088969 single base substitution C T intron_variant MELA-AU 8 124089724 124089724 single base substitution C T intron_variant MELA-AU 8 124090335 124090335 single base substitution C T intron_variant MELA-AU 8 124090335 124090335 single base substitution C T upstream_gene_variant MELA-AU 8 124090926 124090926 single base substitution G A intron_variant MELA-AU 8 124090926 124090926 single base substitution G A upstream_gene_variant MELA-AU 8 124091582 124091582 single base substitution C G intron_variant MELA-AU 8 124091582 124091582 single base substitution C G upstream_gene_variant MELA-AU 8 124091582 124091582 single base substitution C T intron_variant MELA-AU 8 124091582 124091582 single base substitution C T upstream_gene_variant MELA-AU 8 124092364 124092364 single base substitution C T intron_variant MELA-AU 8 124092364 124092364 single base substitution C T upstream_gene_variant MELA-AU 8 124092648 124092648 single base substitution C T intron_variant MELA-AU 8 124092648 124092648 single base substitution C T upstream_gene_variant MELA-AU 8 124092808 124092808 single base substitution C T intron_variant MELA-AU 8 124092808 124092808 single base substitution C T upstream_gene_variant MELA-AU 8 124092824 124092824 single base substitution C T intron_variant MELA-AU 8 124092824 124092824 single base substitution C T upstream_gene_variant MELA-AU 8 124093010 124093010 single base substitution C T intron_variant MELA-AU 8 124093010 124093010 single base substitution C T upstream_gene_variant MELA-AU 8 124093140 124093140 single base substitution T G intron_variant MELA-AU 8 124093140 124093140 single base substitution T G upstream_gene_variant MELA-AU 8 124093861 124093861 single base substitution G A intron_variant MELA-AU 8 124093861 124093861 single base substitution G A upstream_gene_variant MELA-AU 8 124094016 124094016 single base substitution C T intron_variant MELA-AU 8 124094016 124094016 single base substitution C T upstream_gene_variant MELA-AU 8 124094019 124094019 single base substitution C T intron_variant MELA-AU 8 124094019 124094019 single base substitution C T upstream_gene_variant MELA-AU 8 124094103 124094103 single base substitution C T intron_variant MELA-AU 8 124094103 124094103 single base substitution C T upstream_gene_variant MELA-AU 8 124094378 124094378 single base substitution C T intron_variant MELA-AU 8 124094378 124094378 single base substitution C T upstream_gene_variant MELA-AU 8 124094783 124094783 single base substitution C T exon_variant MELA-AU 8 124094783 124094783 single base substitution C T intron_variant MELA-AU 8 124095015 124095015 single base substitution C T 5_prime_UTR_variant MELA-AU 8 124095015 124095015 single base substitution C T exon_variant MELA-AU 8 124095015 124095015 single base substitution C T intron_variant MELA-AU 8 124095015 124095015 single base substitution C T missense_variant L100F 298C>T MELA-AU 8 124095015 124095015 single base substitution C T missense_variant L90F 268C>T MELA-AU 8 124095300 124095300 single base substitution A G exon_variant MELA-AU 8 124095300 124095300 single base substitution A G intron_variant MELA-AU 8 124095959 124095959 single base substitution C T exon_variant MELA-AU 8 124095959 124095959 single base substitution C T intron_variant MELA-AU 8 124096049 124096049 single base substitution C T exon_variant MELA-AU 8 124096049 124096049 single base substitution C T intron_variant MELA-AU 8 124096557 124096557 single base substitution C T 3_prime_UTR_variant MELA-AU 8 124096557 124096557 single base substitution C T downstream_gene_variant MELA-AU 8 124096557 124096557 single base substitution C T exon_variant MELA-AU 8 124096557 124096557 single base substitution C T intron_variant MELA-AU 8 124096557 124096557 single base substitution C T missense_variant R156C 466C>T MELA-AU 8 124096557 124096557 single base substitution C T missense_variant R166C 496C>T MELA-AU 8 124096557 124096557 single base substitution C T missense_variant R45C 133C>T MELA-AU 8 124096557 124096557 single base substitution C T missense_variant R61C 181C>T MELA-AU 8 124097549 124097549 single base substitution C T downstream_gene_variant MELA-AU 8 124097549 124097549 single base substitution C T intron_variant MELA-AU 8 124098820 124098820 single base substitution C T downstream_gene_variant MELA-AU 8 124098820 124098820 single base substitution C T intron_variant MELA-AU 8 124099450 124099450 single base substitution C T downstream_gene_variant MELA-AU 8 124099450 124099450 single base substitution C T intron_variant MELA-AU 8 124100844 124100844 single base substitution C T downstream_gene_variant MELA-AU 8 124100844 124100844 single base substitution C T intron_variant MELA-AU 8 124100907 124100907 single base substitution C T downstream_gene_variant MELA-AU 8 124100907 124100907 single base substitution C T intron_variant MELA-AU 8 124100907 124100907 single base substitution C T upstream_gene_variant MELA-AU 8 124101303 124101303 single base substitution C T downstream_gene_variant MELA-AU 8 124101303 124101303 single base substitution C T intron_variant MELA-AU 8 124101303 124101303 single base substitution C T upstream_gene_variant MELA-AU 8 124103022 124103022 single base substitution C T intron_variant MELA-AU 8 124103022 124103022 single base substitution C T upstream_gene_variant MELA-AU 8 124103177 124103177 single base substitution T C intron_variant MELA-AU 8 124103177 124103177 single base substitution T C upstream_gene_variant MELA-AU 8 124103314 124103315 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 124103314 124103315 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 124104652 124104652 single base substitution C T intron_variant MELA-AU 8 124104652 124104652 single base substitution C T upstream_gene_variant MELA-AU 8 124104839 124104839 single base substitution C T intron_variant MELA-AU 8 124104839 124104839 single base substitution C T upstream_gene_variant MELA-AU 8 124105884 124105884 single base substitution C T 3_prime_UTR_variant MELA-AU 8 124105884 124105884 single base substitution C T downstream_gene_variant MELA-AU 8 124105884 124105884 single base substitution C T exon_variant MELA-AU 8 124105884 124105884 single base substitution C T intron_variant MELA-AU 8 124105884 124105884 single base substitution C T synonymous_variant S181S 543C>T MELA-AU 8 124105884 124105884 single base substitution C T synonymous_variant S191S 573C>T MELA-AU 8 124105884 124105884 single base substitution C T synonymous_variant S86S 258C>T MELA-AU 8 124105884 124105884 single base substitution C T upstream_gene_variant MELA-AU 8 124106060 124106060 single base substitution T A downstream_gene_variant MELA-AU 8 124106060 124106060 single base substitution T A intron_variant MELA-AU 8 124107255 124107255 single base substitution C T downstream_gene_variant MELA-AU 8 124107255 124107255 single base substitution C T intron_variant MELA-AU 8 124107635 124107635 single base substitution C T downstream_gene_variant MELA-AU 8 124107635 124107635 single base substitution C T intron_variant MELA-AU 8 124108102 124108102 single base substitution C T downstream_gene_variant MELA-AU 8 124108102 124108102 single base substitution C T intron_variant MELA-AU 8 124108495 124108495 single base substitution C T downstream_gene_variant MELA-AU 8 124108495 124108495 single base substitution C T intron_variant MELA-AU 8 124108495 124108495 single base substitution C T upstream_gene_variant MELA-AU 8 124108805 124108805 single base substitution C T downstream_gene_variant MELA-AU 8 124108805 124108805 single base substitution C T intron_variant MELA-AU 8 124108805 124108805 single base substitution C T upstream_gene_variant MELA-AU 8 124109980 124109980 single base substitution A G downstream_gene_variant MELA-AU 8 124109980 124109980 single base substitution A G exon_variant MELA-AU 8 124109980 124109980 single base substitution A G intron_variant MELA-AU 8 124109980 124109980 single base substitution A G upstream_gene_variant MELA-AU 8 124110451 124110451 single base substitution T C downstream_gene_variant MELA-AU 8 124110451 124110451 single base substitution T C intron_variant MELA-AU 8 124110451 124110451 single base substitution T C upstream_gene_variant MELA-AU 8 124111032 124111032 single base substitution C T downstream_gene_variant MELA-AU 8 124111032 124111032 single base substitution C T intron_variant MELA-AU 8 124111032 124111032 single base substitution C T upstream_gene_variant MELA-AU 8 124111560 124111560 single base substitution C T downstream_gene_variant MELA-AU 8 124111560 124111560 single base substitution C T intron_variant MELA-AU 8 124111560 124111560 single base substitution C T upstream_gene_variant MELA-AU 8 124111791 124111791 single base substitution C T downstream_gene_variant MELA-AU 8 124111791 124111791 single base substitution C T intron_variant MELA-AU 8 124111791 124111791 single base substitution C T upstream_gene_variant MELA-AU 8 124111913 124111913 single base substitution C T downstream_gene_variant MELA-AU 8 124111913 124111913 single base substitution C T intron_variant MELA-AU 8 124111913 124111913 single base substitution C T upstream_gene_variant MELA-AU 8 124112129 124112129 single base substitution C T downstream_gene_variant MELA-AU 8 124112129 124112129 single base substitution C T intron_variant MELA-AU 8 124112129 124112129 single base substitution C T upstream_gene_variant MELA-AU 8 124112204 124112204 single base substitution C T downstream_gene_variant MELA-AU 8 124112204 124112204 single base substitution C T intron_variant MELA-AU 8 124112204 124112204 single base substitution C T upstream_gene_variant MELA-AU 8 124113602 124113602 single base substitution A G downstream_gene_variant MELA-AU 8 124113602 124113602 single base substitution A G intron_variant MELA-AU 8 124114154 124114154 single base substitution T C downstream_gene_variant MELA-AU 8 124114154 124114154 single base substitution T C intron_variant MELA-AU 8 124114582 124114583 multiple base substitution (>=2bp and <=200bp) GA CC 3_prime_UTR_variant MELA-AU 8 124114582 124114583 multiple base substitution (>=2bp and <=200bp) GA CC downstream_gene_variant MELA-AU 8 124114582 124114583 multiple base substitution (>=2bp and <=200bp) GA CC intron_variant MELA-AU 8 124114893 124114893 single base substitution C T 3_prime_UTR_variant MELA-AU 8 124114893 124114893 single base substitution C T downstream_gene_variant MELA-AU 8 124114893 124114893 single base substitution C T intron_variant MELA-AU 8 124115346 124115346 single base substitution G T 3_prime_UTR_variant MELA-AU 8 124115346 124115346 single base substitution G T downstream_gene_variant MELA-AU 8 124115346 124115346 single base substitution G T intron_variant MELA-AU 8 124115786 124115786 single base substitution C T 3_prime_UTR_variant MELA-AU 8 124115786 124115786 single base substitution C T downstream_gene_variant MELA-AU 8 124115786 124115786 single base substitution C T intron_variant MELA-AU 8 124116508 124116508 single base substitution A G downstream_gene_variant MELA-AU 8 124116508 124116508 single base substitution A G intron_variant MELA-AU 8 124116744 124116744 single base substitution A T downstream_gene_variant MELA-AU 8 124116744 124116744 single base substitution A T intron_variant MELA-AU 8 124116744 124116744 single base substitution A T upstream_gene_variant MELA-AU 8 124117049 124117049 single base substitution C T downstream_gene_variant MELA-AU 8 124117049 124117049 single base substitution C T intron_variant MELA-AU 8 124117049 124117049 single base substitution C T upstream_gene_variant MELA-AU 8 124117185 124117185 single base substitution C T downstream_gene_variant MELA-AU 8 124117185 124117185 single base substitution C T intron_variant MELA-AU 8 124117185 124117185 single base substitution C T upstream_gene_variant MELA-AU 8 124118828 124118829 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 124118828 124118829 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 124118828 124118829 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 124118879 124118879 single base substitution T C downstream_gene_variant MELA-AU 8 124118879 124118879 single base substitution T C intron_variant MELA-AU 8 124118879 124118879 single base substitution T C upstream_gene_variant MELA-AU 8 124119616 124119616 single base substitution C T downstream_gene_variant MELA-AU 8 124119616 124119616 single base substitution C T intron_variant MELA-AU 8 124119616 124119616 single base substitution C T upstream_gene_variant MELA-AU 8 124119616 124119617 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 124119616 124119617 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 124119616 124119617 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 124120489 124120489 single base substitution T A downstream_gene_variant MELA-AU 8 124120489 124120489 single base substitution T A intron_variant MELA-AU 8 124120489 124120489 single base substitution T A upstream_gene_variant MELA-AU 8 124122159 124122159 single base substitution C T downstream_gene_variant MELA-AU 8 124122159 124122159 single base substitution C T intron_variant MELA-AU 8 124123128 124123128 single base substitution C T downstream_gene_variant MELA-AU 8 124123128 124123128 single base substitution C T intron_variant MELA-AU 8 124123547 124123547 single base substitution G A downstream_gene_variant MELA-AU 8 124123547 124123547 single base substitution G A intron_variant MELA-AU 8 124123677 124123677 single base substitution T G downstream_gene_variant MELA-AU 8 124123677 124123677 single base substitution T G intron_variant MELA-AU 8 124123721 124123721 single base substitution C T downstream_gene_variant MELA-AU 8 124123721 124123721 single base substitution C T intron_variant MELA-AU 8 124123939 124123939 single base substitution C T downstream_gene_variant MELA-AU 8 124123939 124123939 single base substitution C T intron_variant MELA-AU 8 124124883 124124883 single base substitution C T downstream_gene_variant MELA-AU 8 124124883 124124883 single base substitution C T intron_variant MELA-AU 8 124125849 124125849 single base substitution C T downstream_gene_variant MELA-AU 8 124125849 124125849 single base substitution C T intron_variant MELA-AU 8 124126481 124126481 single base substitution C T downstream_gene_variant MELA-AU 8 124126481 124126481 single base substitution C T intron_variant MELA-AU 8 124126670 124126670 single base substitution C T downstream_gene_variant MELA-AU 8 124126670 124126670 single base substitution C T intron_variant MELA-AU 8 124126737 124126737 deletion of <=200bp T - downstream_gene_variant MELA-AU 8 124126737 124126737 deletion of <=200bp T - intron_variant MELA-AU 8 124126924 124126924 single base substitution C T intron_variant MELA-AU 8 124127375 124127375 single base substitution C T intron_variant MELA-AU 8 124127403 124127403 single base substitution C T intron_variant MELA-AU 8 124127600 124127600 single base substitution C T intron_variant MELA-AU 8 124127996 124127996 single base substitution C T intron_variant MELA-AU 8 124128010 124128010 single base substitution C T intron_variant MELA-AU 8 124128052 124128052 single base substitution C T intron_variant MELA-AU 8 124128260 124128260 single base substitution T A intron_variant MELA-AU 8 124128510 124128510 single base substitution C T intron_variant MELA-AU 8 124129593 124129593 single base substitution A G intron_variant MELA-AU 8 124130083 124130083 single base substitution C T intron_variant MELA-AU 8 124130534 124130534 single base substitution C T intron_variant MELA-AU 8 124131095 124131096 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 124131191 124131191 single base substitution C T intron_variant MELA-AU 8 124131381 124131381 single base substitution C T intron_variant MELA-AU 8 124131631 124131631 single base substitution A T intron_variant MELA-AU 8 124132123 124132123 single base substitution T G intron_variant MELA-AU 8 124132482 124132482 single base substitution C T intron_variant MELA-AU 8 124132638 124132638 single base substitution A C intron_variant MELA-AU 8 124133015 124133015 single base substitution A T intron_variant MELA-AU 8 124133303 124133303 single base substitution C T intron_variant MELA-AU 8 124133588 124133588 single base substitution C T intron_variant MELA-AU 8 124135588 124135588 single base substitution G A intron_variant MELA-AU 8 124135588 124135588 single base substitution G A upstream_gene_variant MELA-AU 8 124136093 124136093 single base substitution A T intron_variant MELA-AU 8 124136093 124136093 single base substitution A T upstream_gene_variant MELA-AU 8 124136321 124136321 single base substitution A G intron_variant MELA-AU 8 124136321 124136321 single base substitution A G upstream_gene_variant MELA-AU 8 124136994 124136994 single base substitution C T intron_variant MELA-AU 8 124136994 124136994 single base substitution C T upstream_gene_variant MELA-AU 8 124137171 124137171 single base substitution C A intron_variant MELA-AU 8 124137171 124137171 single base substitution C A upstream_gene_variant MELA-AU 8 124137315 124137315 single base substitution C T intron_variant MELA-AU 8 124137315 124137315 single base substitution C T upstream_gene_variant MELA-AU 8 124137410 124137410 single base substitution G A intron_variant MELA-AU 8 124137410 124137410 single base substitution G A upstream_gene_variant MELA-AU 8 124137718 124137718 single base substitution T C intron_variant MELA-AU 8 124137718 124137718 single base substitution T C upstream_gene_variant MELA-AU 8 124137983 124137983 single base substitution C T intron_variant MELA-AU 8 124137983 124137983 single base substitution C T upstream_gene_variant MELA-AU 8 124138563 124138563 single base substitution C T intron_variant MELA-AU 8 124138563 124138563 single base substitution C T upstream_gene_variant MELA-AU 8 124138819 124138819 single base substitution C T 3_prime_UTR_variant MELA-AU 8 124138819 124138819 single base substitution C T synonymous_variant F225F 675C>T MELA-AU 8 124138819 124138819 single base substitution C T synonymous_variant F469F 1407C>T MELA-AU 8 124138819 124138819 single base substitution C T synonymous_variant F487F 1461C>T MELA-AU 8 124138819 124138819 single base substitution C T synonymous_variant F592F 1776C>T MELA-AU 8 124138819 124138819 single base substitution C T upstream_gene_variant MELA-AU 8 124139770 124139770 single base substitution C T intron_variant MELA-AU 8 124139770 124139770 single base substitution C T upstream_gene_variant MELA-AU 8 124139817 124139817 single base substitution C T intron_variant MELA-AU 8 124139817 124139817 single base substitution C T upstream_gene_variant MELA-AU 8 124139998 124139998 single base substitution C T intron_variant MELA-AU 8 124139998 124139998 single base substitution C T upstream_gene_variant MELA-AU 8 124140006 124140006 single base substitution T A intron_variant MELA-AU 8 124140006 124140006 single base substitution T A upstream_gene_variant MELA-AU 8 124140087 124140087 single base substitution T C intron_variant MELA-AU 8 124140087 124140087 single base substitution T C upstream_gene_variant MELA-AU 8 124140256 124140256 single base substitution C T exon_variant MELA-AU 8 124140256 124140256 single base substitution C T intron_variant MELA-AU 8 124140897 124140897 single base substitution A G intron_variant MELA-AU 8 124140912 124140912 single base substitution C T intron_variant MELA-AU 8 124141070 124141070 single base substitution C T intron_variant MELA-AU 8 124142290 124142290 single base substitution G T downstream_gene_variant MELA-AU 8 124142290 124142290 single base substitution G T intron_variant MELA-AU 8 124142960 124142960 single base substitution C T downstream_gene_variant MELA-AU 8 124142960 124142960 single base substitution C T intron_variant MELA-AU 8 124143042 124143042 single base substitution C T downstream_gene_variant MELA-AU 8 124143042 124143042 single base substitution C T intron_variant MELA-AU 8 124144191 124144191 single base substitution C T downstream_gene_variant MELA-AU 8 124144191 124144191 single base substitution C T intron_variant MELA-AU 8 124144251 124144251 single base substitution C T downstream_gene_variant MELA-AU 8 124144251 124144251 single base substitution C T intron_variant MELA-AU 8 124144456 124144456 deletion of <=200bp C - downstream_gene_variant MELA-AU 8 124144456 124144456 deletion of <=200bp C - intron_variant MELA-AU 8 124144550 124144550 single base substitution C T downstream_gene_variant MELA-AU 8 124144550 124144550 single base substitution C T intron_variant MELA-AU 8 124144701 124144701 single base substitution T A downstream_gene_variant MELA-AU 8 124144701 124144701 single base substitution T A intron_variant MELA-AU 8 124145220 124145220 single base substitution C T downstream_gene_variant MELA-AU 8 124145220 124145220 single base substitution C T intron_variant MELA-AU 8 124145704 124145704 single base substitution C T downstream_gene_variant MELA-AU 8 124145704 124145704 single base substitution C T intron_variant MELA-AU 8 124145777 124145777 single base substitution C T downstream_gene_variant MELA-AU 8 124145777 124145777 single base substitution C T intron_variant MELA-AU 8 124146526 124146526 single base substitution T A intron_variant MELA-AU 8 124146699 124146699 single base substitution C T intron_variant MELA-AU 8 124147249 124147249 single base substitution C T intron_variant MELA-AU 8 124148192 124148192 single base substitution A T intron_variant MELA-AU 8 124148605 124148605 single base substitution C T intron_variant MELA-AU 8 124148805 124148805 single base substitution C T intron_variant MELA-AU 8 124149044 124149044 single base substitution C T intron_variant MELA-AU 8 124151273 124151273 single base substitution C T intron_variant MELA-AU 8 124151588 124151588 single base substitution C T intron_variant MELA-AU 8 124152723 124152723 single base substitution C T intron_variant MELA-AU 8 124153645 124153645 single base substitution C T intron_variant MELA-AU 8 124154021 124154021 single base substitution C T intron_variant MELA-AU 8 124154026 124154026 single base substitution C T intron_variant MELA-AU 8 124154264 124154264 single base substitution C T intron_variant MELA-AU 8 124154361 124154361 single base substitution T A intron_variant MELA-AU 8 124155275 124155275 single base substitution C T downstream_gene_variant MELA-AU 8 124155275 124155275 single base substitution C T intron_variant MELA-AU 8 124155426 124155426 single base substitution C T downstream_gene_variant MELA-AU 8 124155426 124155426 single base substitution C T intron_variant MELA-AU 8 124155443 124155443 single base substitution C T downstream_gene_variant MELA-AU 8 124155443 124155443 single base substitution C T intron_variant MELA-AU 8 124155800 124155800 single base substitution C T downstream_gene_variant MELA-AU 8 124155800 124155800 single base substitution C T intron_variant MELA-AU 8 124156584 124156586 deletion of <=200bp TTA - downstream_gene_variant MELA-AU 8 124156584 124156586 deletion of <=200bp TTA - intron_variant MELA-AU 8 124158293 124158293 single base substitution A G downstream_gene_variant MELA-AU 8 124158293 124158293 single base substitution A G intron_variant MELA-AU 8 124158589 124158589 single base substitution C T downstream_gene_variant MELA-AU 8 124158589 124158589 single base substitution C T intron_variant MELA-AU 8 124159656 124159657 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 124159656 124159657 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 124160108 124160108 single base substitution C T intron_variant MELA-AU 8 124160116 124160116 single base substitution C T intron_variant MELA-AU 8 124160194 124160194 single base substitution C T intron_variant MELA-AU 8 124161067 124161067 single base substitution G A intron_variant MELA-AU 8 124161101 124161101 single base substitution A G intron_variant MELA-AU 8 124161159 124161159 single base substitution A C intron_variant MELA-AU 8 124162119 124162119 single base substitution C T intron_variant MELA-AU 8 124162356 124162356 single base substitution C T 3_prime_UTR_variant MELA-AU 8 124162356 124162356 single base substitution C T missense_variant P1019S 3055C>T MELA-AU 8 124162356 124162356 single base substitution C T missense_variant P573S 1717C>T MELA-AU 8 124162356 124162356 single base substitution C T missense_variant P896S 2686C>T MELA-AU 8 124162356 124162356 single base substitution C T missense_variant P914S 2740C>T MELA-AU 8 124162356 124162356 single base substitution C T missense_variant P923S 2767C>T MELA-AU 8 124162356 124162356 single base substitution C T missense_variant P954S 2860C>T MELA-AU 8 124162473 124162473 single base substitution C T intron_variant MELA-AU 8 124162510 124162510 single base substitution G A intron_variant MELA-AU 8 124163640 124163640 single base substitution T C intron_variant MELA-AU 8 124164036 124164036 single base substitution C T intron_variant MELA-AU 8 124164080 124164080 single base substitution C T 3_prime_UTR_variant MELA-AU 8 124164080 124164080 single base substitution C T synonymous_variant T1034T 3102C>T MELA-AU 8 124164080 124164080 single base substitution C T synonymous_variant T588T 1764C>T MELA-AU 8 124164080 124164080 single base substitution C T synonymous_variant T911T 2733C>T MELA-AU 8 124164080 124164080 single base substitution C T synonymous_variant T929T 2787C>T MELA-AU 8 124164080 124164080 single base substitution C T synonymous_variant T938T 2814C>T MELA-AU 8 124164080 124164080 single base substitution C T synonymous_variant T969T 2907C>T MELA-AU 8 124164462 124164462 single base substitution C T downstream_gene_variant MELA-AU 8 124164890 124164890 single base substitution C T downstream_gene_variant MELA-AU 8 124164993 124164993 single base substitution C T downstream_gene_variant MELA-AU 8 124165059 124165059 single base substitution C A downstream_gene_variant MELA-AU 8 124165105 124165105 single base substitution C T downstream_gene_variant MELA-AU 8 124165250 124165250 single base substitution T A downstream_gene_variant MELA-AU 8 124165558 124165558 single base substitution C T downstream_gene_variant MELA-AU 8 124165868 124165868 single base substitution T G downstream_gene_variant MELA-AU 8 124165984 124165984 single base substitution G A downstream_gene_variant MELA-AU 8 124166128 124166128 single base substitution T C downstream_gene_variant MELA-AU 8 124167220 124167220 single base substitution G A downstream_gene_variant MELA-AU 8 124167364 124167364 single base substitution C T downstream_gene_variant MELA-AU 8 124167574 124167574 single base substitution C T downstream_gene_variant MELA-AU 8 124168953 124168953 single base substitution C T downstream_gene_variant MELA-AU 8 124169071 124169071 single base substitution C T downstream_gene_variant ORCA-IN 8 124054233 124054233 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 8 124097322 124097322 single base substitution G A downstream_gene_variant ORCA-IN 8 124097322 124097322 single base substitution G A intron_variant ORCA-IN 8 124107269 124107269 single base substitution C T downstream_gene_variant ORCA-IN 8 124107269 124107269 single base substitution C T intron_variant ORCA-IN 8 124123727 124123727 single base substitution G A downstream_gene_variant ORCA-IN 8 124123727 124123727 single base substitution G A intron_variant ORCA-IN 8 124140810 124140810 single base substitution G T intron_variant ORCA-IN 8 124166720 124166720 single base substitution A T downstream_gene_variant ORCA-IN 8 124168818 124168818 single base substitution G C downstream_gene_variant OV-AU 8 124059268 124059268 single base substitution A T intron_variant OV-AU 8 124063744 124063744 single base substitution G A intron_variant OV-AU 8 124064683 124064683 single base substitution G A intron_variant OV-AU 8 124070025 124070025 single base substitution G C intron_variant OV-AU 8 124074980 124074980 single base substitution A G intron_variant OV-AU 8 124075291 124075291 single base substitution G A intron_variant OV-AU 8 124075674 124075674 single base substitution A G intron_variant OV-AU 8 124079562 124079562 single base substitution C G intron_variant OV-AU 8 124080643 124080643 single base substitution T A intron_variant OV-AU 8 124080643 124080643 single base substitution T A upstream_gene_variant OV-AU 8 124085745 124085745 single base substitution G A intron_variant OV-AU 8 124085745 124085745 single base substitution G A upstream_gene_variant OV-AU 8 124090616 124090616 single base substitution G A intron_variant OV-AU 8 124090616 124090616 single base substitution G A upstream_gene_variant OV-AU 8 124090664 124090664 single base substitution G C intron_variant OV-AU 8 124090664 124090664 single base substitution G C upstream_gene_variant OV-AU 8 124094706 124094706 single base substitution T C intron_variant OV-AU 8 124094706 124094706 single base substitution T C upstream_gene_variant OV-AU 8 124094722 124094722 single base substitution T G intron_variant OV-AU 8 124094722 124094722 single base substitution T G upstream_gene_variant OV-AU 8 124097956 124097956 single base substitution G C downstream_gene_variant OV-AU 8 124097956 124097956 single base substitution G C intron_variant OV-AU 8 124099544 124099544 single base substitution G C downstream_gene_variant OV-AU 8 124099544 124099544 single base substitution G C intron_variant OV-AU 8 124101113 124101113 single base substitution G A downstream_gene_variant OV-AU 8 124101113 124101113 single base substitution G A intron_variant OV-AU 8 124101113 124101113 single base substitution G A upstream_gene_variant OV-AU 8 124101701 124101701 single base substitution G A intron_variant OV-AU 8 124101701 124101701 single base substitution G A upstream_gene_variant OV-AU 8 124105121 124105121 single base substitution G C intron_variant OV-AU 8 124105121 124105121 single base substitution G C upstream_gene_variant OV-AU 8 124105659 124105659 single base substitution T A intron_variant OV-AU 8 124105659 124105659 single base substitution T A upstream_gene_variant OV-AU 8 124118767 124118767 single base substitution A G downstream_gene_variant OV-AU 8 124118767 124118767 single base substitution A G intron_variant OV-AU 8 124118767 124118767 single base substitution A G upstream_gene_variant OV-AU 8 124119748 124119748 single base substitution G A downstream_gene_variant OV-AU 8 124119748 124119748 single base substitution G A intron_variant OV-AU 8 124119748 124119748 single base substitution G A upstream_gene_variant OV-AU 8 124122154 124122154 single base substitution T C downstream_gene_variant OV-AU 8 124122154 124122154 single base substitution T C intron_variant OV-AU 8 124131427 124131427 single base substitution C T intron_variant OV-AU 8 124133796 124133796 single base substitution C G intron_variant OV-AU 8 124136951 124136951 single base substitution T A intron_variant OV-AU 8 124136951 124136951 single base substitution T A upstream_gene_variant OV-AU 8 124137103 124137103 single base substitution G T intron_variant OV-AU 8 124137103 124137103 single base substitution G T upstream_gene_variant OV-AU 8 124146124 124146124 single base substitution G A downstream_gene_variant OV-AU 8 124146124 124146124 single base substitution G A intron_variant OV-AU 8 124152153 124152153 single base substitution G C intron_variant OV-AU 8 124154697 124154697 single base substitution G A downstream_gene_variant OV-AU 8 124154697 124154697 single base substitution G A intron_variant OV-AU 8 124154697 124154697 single base substitution G A splice_donor_variant OV-AU 8 124156296 124156296 single base substitution C A downstream_gene_variant OV-AU 8 124156296 124156296 single base substitution C A intron_variant OV-AU 8 124156313 124156313 single base substitution A T downstream_gene_variant OV-AU 8 124156313 124156313 single base substitution A T intron_variant OV-AU 8 124160282 124160282 single base substitution G A intron_variant OV-AU 8 124161371 124161371 single base substitution G A intron_variant OV-AU 8 124165971 124165971 single base substitution G A downstream_gene_variant OV-AU 8 124169145 124169145 single base substitution C G downstream_gene_variant PACA-AU 8 124052806 124052806 single base substitution G T upstream_gene_variant PACA-AU 8 124055350 124055350 single base substitution C G intron_variant PACA-AU 8 124065229 124065229 single base substitution T A intron_variant PACA-AU 8 124066733 124066733 single base substitution T G intron_variant PACA-AU 8 124070933 124070933 single base substitution T C intron_variant PACA-AU 8 124074203 124074203 single base substitution G A intron_variant PACA-AU 8 124079855 124079855 single base substitution G A intron_variant PACA-AU 8 124086449 124086449 single base substitution G A intron_variant PACA-AU 8 124086449 124086449 single base substitution G A upstream_gene_variant PACA-AU 8 124088516 124088516 single base substitution A T intron_variant PACA-AU 8 124095656 124095656 single base substitution A T exon_variant PACA-AU 8 124095656 124095656 single base substitution A T intron_variant PACA-AU 8 124114651 124114651 single base substitution A T 3_prime_UTR_variant PACA-AU 8 124114651 124114651 single base substitution A T downstream_gene_variant PACA-AU 8 124114651 124114651 single base substitution A T intron_variant PACA-AU 8 124115319 124115319 single base substitution C T 3_prime_UTR_variant PACA-AU 8 124115319 124115319 single base substitution C T downstream_gene_variant PACA-AU 8 124115319 124115319 single base substitution C T intron_variant PACA-AU 8 124123649 124123649 single base substitution T A downstream_gene_variant PACA-AU 8 124123649 124123649 single base substitution T A intron_variant PACA-AU 8 124126553 124126553 single base substitution G T downstream_gene_variant PACA-AU 8 124126553 124126553 single base substitution G T intron_variant PACA-AU 8 124130247 124130247 single base substitution A T intron_variant PACA-AU 8 124134189 124134189 single base substitution G C intron_variant PACA-AU 8 124147284 124147284 single base substitution C T intron_variant PACA-AU 8 124148171 124148171 single base substitution A G intron_variant PACA-AU 8 124149281 124149281 single base substitution G C intron_variant PACA-AU 8 124150265 124150265 single base substitution C T intron_variant PACA-AU 8 124154539 124154539 single base substitution G T exon_variant PACA-AU 8 124154539 124154539 single base substitution G T intron_variant PACA-AU 8 124154539 124154539 single base substitution G T missense_variant C447F 1340G>T PACA-AU 8 124154539 124154539 single base substitution G T missense_variant C770F 2309G>T PACA-AU 8 124154539 124154539 single base substitution G T missense_variant C788F 2363G>T PACA-AU 8 124154539 124154539 single base substitution G T missense_variant C893F 2678G>T PACA-AU 8 124160732 124160732 single base substitution A G intron_variant PACA-AU 8 124164556 124164556 single base substitution A C downstream_gene_variant PACA-AU 8 124165590 124165590 single base substitution C T downstream_gene_variant PACA-CA 8 124052801 124052801 single base substitution A G upstream_gene_variant PACA-CA 8 124054391 124054391 single base substitution A C 5_prime_UTR_variant PACA-CA 8 124056894 124056894 single base substitution C A intron_variant PACA-CA 8 124066874 124066874 insertion of <=200bp - AT intron_variant PACA-CA 8 124070434 124070434 single base substitution A T intron_variant PACA-CA 8 124070488 124070488 single base substitution T C intron_variant PACA-CA 8 124072196 124072196 single base substitution C T intron_variant PACA-CA 8 124073118 124073118 single base substitution T A intron_variant PACA-CA 8 124074143 124074143 single base substitution C T intron_variant PACA-CA 8 124076213 124076213 single base substitution G A intron_variant PACA-CA 8 124078113 124078113 insertion of <=200bp - T intron_variant PACA-CA 8 124079024 124079024 deletion of <=200bp A - intron_variant PACA-CA 8 124079550 124079550 single base substitution T G intron_variant PACA-CA 8 124080293 124080293 single base substitution G T intron_variant PACA-CA 8 124080293 124080293 single base substitution G T upstream_gene_variant PACA-CA 8 124087150 124087150 single base substitution G C intron_variant PACA-CA 8 124087150 124087150 single base substitution G C upstream_gene_variant PACA-CA 8 124091294 124091294 single base substitution G T intron_variant PACA-CA 8 124091294 124091294 single base substitution G T upstream_gene_variant PACA-CA 8 124093718 124093718 single base substitution A G intron_variant PACA-CA 8 124093718 124093718 single base substitution A G upstream_gene_variant PACA-CA 8 124095027 124095027 single base substitution G T 5_prime_UTR_variant PACA-CA 8 124095027 124095027 single base substitution G T exon_variant PACA-CA 8 124095027 124095027 single base substitution G T intron_variant PACA-CA 8 124095027 124095027 single base substitution G T missense_variant A104S 310G>T PACA-CA 8 124095027 124095027 single base substitution G T missense_variant A94S 280G>T PACA-CA 8 124100796 124100796 single base substitution A T downstream_gene_variant PACA-CA 8 124100796 124100796 single base substitution A T intron_variant PACA-CA 8 124104929 124104929 single base substitution A C intron_variant PACA-CA 8 124104929 124104929 single base substitution A C upstream_gene_variant PACA-CA 8 124112139 124112139 single base substitution T C downstream_gene_variant PACA-CA 8 124112139 124112139 single base substitution T C intron_variant PACA-CA 8 124112139 124112139 single base substitution T C upstream_gene_variant PACA-CA 8 124112672 124112672 single base substitution C T downstream_gene_variant PACA-CA 8 124112672 124112672 single base substitution C T intron_variant PACA-CA 8 124112672 124112672 single base substitution C T upstream_gene_variant PACA-CA 8 124113716 124113716 single base substitution G A downstream_gene_variant PACA-CA 8 124113716 124113716 single base substitution G A intron_variant PACA-CA 8 124118691 124118691 single base substitution G C downstream_gene_variant PACA-CA 8 124118691 124118691 single base substitution G C intron_variant PACA-CA 8 124118691 124118691 single base substitution G C upstream_gene_variant PACA-CA 8 124118733 124118733 single base substitution A T downstream_gene_variant PACA-CA 8 124118733 124118733 single base substitution A T intron_variant PACA-CA 8 124118733 124118733 single base substitution A T upstream_gene_variant PACA-CA 8 124121242 124121242 single base substitution C T downstream_gene_variant PACA-CA 8 124121242 124121242 single base substitution C T intron_variant PACA-CA 8 124121242 124121242 single base substitution C T upstream_gene_variant PACA-CA 8 124125986 124125986 insertion of <=200bp - T downstream_gene_variant PACA-CA 8 124125986 124125986 insertion of <=200bp - T intron_variant PACA-CA 8 124126383 124126383 single base substitution T C downstream_gene_variant PACA-CA 8 124126383 124126383 single base substitution T C intron_variant PACA-CA 8 124135762 124135762 single base substitution A G intron_variant PACA-CA 8 124135762 124135762 single base substitution A G upstream_gene_variant PACA-CA 8 124141389 124141389 single base substitution G A 3_prime_UTR_variant PACA-CA 8 124141389 124141389 single base substitution G A exon_variant PACA-CA 8 124141389 124141389 single base substitution G A missense_variant R288H 863G>A PACA-CA 8 124141389 124141389 single base substitution G A missense_variant R611H 1832G>A PACA-CA 8 124141389 124141389 single base substitution G A missense_variant R629H 1886G>A PACA-CA 8 124141389 124141389 single base substitution G A missense_variant R734H 2201G>A PACA-CA 8 124141389 124141389 single base substitution G A missense_variant V628I 1882G>A PACA-CA 8 124142311 124142311 single base substitution G A downstream_gene_variant PACA-CA 8 124142311 124142311 single base substitution G A intron_variant PACA-CA 8 124142592 124142592 single base substitution A C downstream_gene_variant PACA-CA 8 124142592 124142592 single base substitution A C intron_variant PACA-CA 8 124146768 124146768 single base substitution C A intron_variant PACA-CA 8 124146789 124146789 single base substitution G A intron_variant PACA-CA 8 124151176 124151176 single base substitution A G intron_variant PACA-CA 8 124152366 124152366 single base substitution G A intron_variant PACA-CA 8 124152671 124152671 single base substitution A G intron_variant PACA-CA 8 124155905 124155905 single base substitution C G downstream_gene_variant PACA-CA 8 124155905 124155905 single base substitution C G intron_variant PACA-CA 8 124157307 124157307 single base substitution G A downstream_gene_variant PACA-CA 8 124157307 124157307 single base substitution G A intron_variant PACA-CA 8 124158942 124158942 single base substitution A T downstream_gene_variant PACA-CA 8 124158942 124158942 single base substitution A T intron_variant PACA-CA 8 124159371 124159371 single base substitution T G downstream_gene_variant PACA-CA 8 124159371 124159371 single base substitution T G intron_variant PACA-CA 8 124161552 124161552 single base substitution C T intron_variant PACA-CA 8 124162264 124162264 single base substitution C T intron_variant PACA-CA 8 124162501 124162501 single base substitution A G intron_variant PAEN-AU 8 124056647 124056647 single base substitution G T intron_variant PAEN-AU 8 124106748 124106751 deletion of <=200bp TTTA - downstream_gene_variant PAEN-AU 8 124106748 124106751 deletion of <=200bp TTTA - intron_variant PAEN-AU 8 124107631 124107631 single base substitution T C downstream_gene_variant PAEN-AU 8 124107631 124107631 single base substitution T C intron_variant PAEN-IT 8 124167357 124167357 single base substitution G T downstream_gene_variant PBCA-DE 8 124057572 124057575 deletion of <=200bp CTTG - intron_variant PBCA-DE 8 124057784 124057784 single base substitution C G intron_variant PBCA-DE 8 124059386 124059386 single base substitution G A intron_variant PBCA-DE 8 124060847 124060847 single base substitution G A intron_variant PBCA-DE 8 124062413 124062413 single base substitution G A intron_variant PBCA-DE 8 124065654 124065654 single base substitution A T intron_variant PBCA-DE 8 124066521 124066521 single base substitution G A intron_variant PBCA-DE 8 124070226 124070226 single base substitution T C intron_variant PBCA-DE 8 124071114 124071115 deletion of <=200bp AT - intron_variant PBCA-DE 8 124072936 124072936 single base substitution G A intron_variant PBCA-DE 8 124073282 124073282 single base substitution A C intron_variant PBCA-DE 8 124075387 124075387 insertion of <=200bp - A intron_variant PBCA-DE 8 124079758 124079758 deletion of <=200bp G - intron_variant PBCA-DE 8 124085193 124085193 single base substitution C G intron_variant PBCA-DE 8 124085193 124085193 single base substitution C G upstream_gene_variant PBCA-DE 8 124114422 124114422 single base substitution T G downstream_gene_variant PBCA-DE 8 124114422 124114422 single base substitution T G intron_variant PBCA-DE 8 124114582 124114582 single base substitution G C 3_prime_UTR_variant PBCA-DE 8 124114582 124114582 single base substitution G C downstream_gene_variant PBCA-DE 8 124114582 124114582 single base substitution G C intron_variant PBCA-DE 8 124145275 124145275 single base substitution G T downstream_gene_variant PBCA-DE 8 124145275 124145275 single base substitution G T intron_variant PBCA-DE 8 124152782 124152782 deletion of <=200bp T - intron_variant PBCA-DE 8 124160008 124160008 single base substitution G T intron_variant PBCA-DE 8 124163378 124163378 insertion of <=200bp - GGTTATTTGGTAACCTTA intron_variant PBCA-DE 8 124168478 124168478 single base substitution C T downstream_gene_variant PRAD-CA 8 124059853 124059853 single base substitution T A intron_variant PRAD-CA 8 124060711 124060711 single base substitution G T intron_variant PRAD-CA 8 124073118 124073118 single base substitution T A intron_variant PRAD-CA 8 124074579 124074579 single base substitution T C intron_variant PRAD-CA 8 124089787 124089787 single base substitution C T intron_variant PRAD-CA 8 124089787 124089787 single base substitution C T upstream_gene_variant PRAD-CA 8 124094833 124094833 single base substitution G A exon_variant PRAD-CA 8 124094833 124094833 single base substitution G A intron_variant PRAD-CA 8 124106239 124106239 single base substitution T C downstream_gene_variant PRAD-CA 8 124106239 124106239 single base substitution T C intron_variant PRAD-CA 8 124110017 124110017 single base substitution A G downstream_gene_variant PRAD-CA 8 124110017 124110017 single base substitution A G exon_variant PRAD-CA 8 124110017 124110017 single base substitution A G intron_variant PRAD-CA 8 124110017 124110017 single base substitution A G upstream_gene_variant PRAD-CA 8 124139733 124139733 single base substitution G A intron_variant PRAD-CA 8 124139733 124139733 single base substitution G A upstream_gene_variant PRAD-CA 8 124154754 124154754 single base substitution A T downstream_gene_variant PRAD-CA 8 124154754 124154754 single base substitution A T intron_variant PRAD-CA 8 124154756 124154756 single base substitution A G downstream_gene_variant PRAD-CA 8 124154756 124154756 single base substitution A G intron_variant PRAD-CA 8 124161228 124161228 single base substitution A G intron_variant PRAD-UK 8 124051299 124051299 single base substitution C T upstream_gene_variant PRAD-UK 8 124056301 124056301 single base substitution T C intron_variant PRAD-UK 8 124061394 124061396 deletion of <=200bp CTT - intron_variant PRAD-UK 8 124065369 124065369 single base substitution A T intron_variant PRAD-UK 8 124079892 124079892 single base substitution C T intron_variant PRAD-UK 8 124088473 124088474 deletion of <=200bp TG - intron_variant PRAD-UK 8 124099363 124099363 single base substitution T C downstream_gene_variant PRAD-UK 8 124099363 124099363 single base substitution T C intron_variant PRAD-UK 8 124099364 124099364 single base substitution G C downstream_gene_variant PRAD-UK 8 124099364 124099364 single base substitution G C intron_variant PRAD-UK 8 124099365 124099365 single base substitution A T downstream_gene_variant PRAD-UK 8 124099365 124099365 single base substitution A T intron_variant PRAD-UK 8 124102393 124102393 deletion of <=200bp T - intron_variant PRAD-UK 8 124102393 124102393 deletion of <=200bp T - upstream_gene_variant PRAD-UK 8 124109571 124109571 single base substitution T C 3_prime_UTR_variant PRAD-UK 8 124109571 124109571 single base substitution T C downstream_gene_variant PRAD-UK 8 124109571 124109571 single base substitution T C exon_variant PRAD-UK 8 124109571 124109571 single base substitution T C intron_variant PRAD-UK 8 124109571 124109571 single base substitution T C missense_variant W136R 406T>C PRAD-UK 8 124109571 124109571 single base substitution T C missense_variant W231R 691T>C PRAD-UK 8 124109571 124109571 single base substitution T C missense_variant W241R 721T>C PRAD-UK 8 124109571 124109571 single base substitution T C missense_variant W44R 130T>C PRAD-UK 8 124109571 124109571 single base substitution T C upstream_gene_variant PRAD-UK 8 124112579 124112579 single base substitution G A downstream_gene_variant PRAD-UK 8 124112579 124112579 single base substitution G A intron_variant PRAD-UK 8 124112579 124112579 single base substitution G A upstream_gene_variant PRAD-UK 8 124131136 124131136 single base substitution A T intron_variant PRAD-UK 8 124149944 124149945 deletion of <=200bp CA - intron_variant READ-US 8 124138749 124138749 single base substitution T G missense_variant L202R 605T>G READ-US 8 124138749 124138749 single base substitution T G missense_variant L446R 1337T>G READ-US 8 124138749 124138749 single base substitution T G missense_variant L464R 1391T>G READ-US 8 124138749 124138749 single base substitution T G missense_variant L569R 1706T>G READ-US 8 124138749 124138749 single base substitution T G splice_region_variant READ-US 8 124138749 124138749 single base substitution T G upstream_gene_variant READ-US 8 124138819 124138819 single base substitution C T 3_prime_UTR_variant READ-US 8 124138819 124138819 single base substitution C T synonymous_variant F225F 675C>T READ-US 8 124138819 124138819 single base substitution C T synonymous_variant F469F 1407C>T READ-US 8 124138819 124138819 single base substitution C T synonymous_variant F487F 1461C>T READ-US 8 124138819 124138819 single base substitution C T synonymous_variant F592F 1776C>T READ-US 8 124138819 124138819 single base substitution C T upstream_gene_variant RECA-EU 8 124058463 124058463 single base substitution G A intron_variant RECA-EU 8 124080852 124080852 single base substitution C A intron_variant RECA-EU 8 124080852 124080852 single base substitution C A upstream_gene_variant RECA-EU 8 124085262 124085262 single base substitution T C intron_variant RECA-EU 8 124085262 124085262 single base substitution T C upstream_gene_variant RECA-EU 8 124094311 124094311 single base substitution G C intron_variant RECA-EU 8 124094311 124094311 single base substitution G C upstream_gene_variant RECA-EU 8 124098425 124098425 single base substitution G A downstream_gene_variant RECA-EU 8 124098425 124098425 single base substitution G A intron_variant RECA-EU 8 124098983 124098983 single base substitution G A downstream_gene_variant RECA-EU 8 124098983 124098983 single base substitution G A intron_variant RECA-EU 8 124142351 124142351 single base substitution T A downstream_gene_variant RECA-EU 8 124142351 124142351 single base substitution T A intron_variant RECA-EU 8 124142352 124142352 single base substitution G T downstream_gene_variant RECA-EU 8 124142352 124142352 single base substitution G T intron_variant RECA-EU 8 124144951 124144951 single base substitution C A downstream_gene_variant RECA-EU 8 124144951 124144951 single base substitution C A intron_variant SKCA-BR 8 124049260 124049260 single base substitution A C upstream_gene_variant SKCA-BR 8 124050195 124050195 single base substitution G A upstream_gene_variant SKCA-BR 8 124052495 124052495 single base substitution G A upstream_gene_variant SKCA-BR 8 124052509 124052509 single base substitution G A upstream_gene_variant SKCA-BR 8 124052981 124052981 single base substitution G A upstream_gene_variant SKCA-BR 8 124054556 124054556 single base substitution C T 5_prime_UTR_variant SKCA-BR 8 124054557 124054557 single base substitution C T 5_prime_UTR_variant SKCA-BR 8 124058321 124058322 deletion of <=200bp CA - intron_variant SKCA-BR 8 124059540 124059540 single base substitution G A intron_variant SKCA-BR 8 124059809 124059809 insertion of <=200bp - CATATAT intron_variant SKCA-BR 8 124062353 124062353 single base substitution G A intron_variant SKCA-BR 8 124064676 124064676 single base substitution C T intron_variant SKCA-BR 8 124065065 124065065 single base substitution G A intron_variant SKCA-BR 8 124065556 124065556 single base substitution G A intron_variant SKCA-BR 8 124067518 124067518 single base substitution T A intron_variant SKCA-BR 8 124071214 124071214 single base substitution C T intron_variant SKCA-BR 8 124071816 124071816 insertion of <=200bp - TAC intron_variant SKCA-BR 8 124071816 124071818 deletion of <=200bp TAC - intron_variant SKCA-BR 8 124072062 124072062 single base substitution C T intron_variant SKCA-BR 8 124073270 124073270 single base substitution G A intron_variant SKCA-BR 8 124075270 124075270 single base substitution C T intron_variant SKCA-BR 8 124077613 124077613 single base substitution G A intron_variant SKCA-BR 8 124079114 124079114 single base substitution G A intron_variant SKCA-BR 8 124080404 124080404 single base substitution G A intron_variant SKCA-BR 8 124080404 124080404 single base substitution G A upstream_gene_variant SKCA-BR 8 124080823 124080823 single base substitution G A intron_variant SKCA-BR 8 124080823 124080823 single base substitution G A upstream_gene_variant SKCA-BR 8 124081457 124081457 single base substitution G A intron_variant SKCA-BR 8 124081457 124081457 single base substitution G A upstream_gene_variant SKCA-BR 8 124082387 124082387 single base substitution G C intron_variant SKCA-BR 8 124082387 124082387 single base substitution G C upstream_gene_variant SKCA-BR 8 124082611 124082631 deletion of <=200bp GTGTATGTATATATATATATA - intron_variant SKCA-BR 8 124082611 124082631 deletion of <=200bp GTGTATGTATATATATATATA - upstream_gene_variant SKCA-BR 8 124084691 124084691 single base substitution C T intron_variant SKCA-BR 8 124084691 124084691 single base substitution C T upstream_gene_variant SKCA-BR 8 124087460 124087460 single base substitution T C intron_variant SKCA-BR 8 124090283 124090283 single base substitution G A intron_variant SKCA-BR 8 124090283 124090283 single base substitution G A upstream_gene_variant SKCA-BR 8 124091405 124091405 single base substitution C T intron_variant SKCA-BR 8 124091405 124091405 single base substitution C T upstream_gene_variant SKCA-BR 8 124091952 124091952 single base substitution C T intron_variant SKCA-BR 8 124091952 124091952 single base substitution C T upstream_gene_variant SKCA-BR 8 124093038 124093038 single base substitution G C intron_variant SKCA-BR 8 124093038 124093038 single base substitution G C upstream_gene_variant SKCA-BR 8 124096227 124096227 single base substitution T C exon_variant SKCA-BR 8 124096227 124096227 single base substitution T C intron_variant SKCA-BR 8 124096315 124096315 single base substitution C G exon_variant SKCA-BR 8 124096315 124096315 single base substitution C G intron_variant SKCA-BR 8 124097892 124097892 single base substitution A C downstream_gene_variant SKCA-BR 8 124097892 124097892 single base substitution A C intron_variant SKCA-BR 8 124098059 124098059 single base substitution C T downstream_gene_variant SKCA-BR 8 124098059 124098059 single base substitution C T intron_variant SKCA-BR 8 124103134 124103134 single base substitution C T intron_variant SKCA-BR 8 124103134 124103134 single base substitution C T upstream_gene_variant SKCA-BR 8 124103633 124103633 single base substitution C T intron_variant SKCA-BR 8 124103633 124103633 single base substitution C T upstream_gene_variant SKCA-BR 8 124105064 124105064 single base substitution T A intron_variant SKCA-BR 8 124105064 124105064 single base substitution T A upstream_gene_variant SKCA-BR 8 124111016 124111016 single base substitution C T downstream_gene_variant SKCA-BR 8 124111016 124111016 single base substitution C T intron_variant SKCA-BR 8 124111016 124111016 single base substitution C T upstream_gene_variant SKCA-BR 8 124111258 124111258 single base substitution A C downstream_gene_variant SKCA-BR 8 124111258 124111258 single base substitution A C intron_variant SKCA-BR 8 124111258 124111258 single base substitution A C upstream_gene_variant SKCA-BR 8 124111781 124111781 single base substitution C T downstream_gene_variant SKCA-BR 8 124111781 124111781 single base substitution C T intron_variant SKCA-BR 8 124111781 124111781 single base substitution C T upstream_gene_variant SKCA-BR 8 124112811 124112811 single base substitution C T downstream_gene_variant SKCA-BR 8 124112811 124112811 single base substitution C T intron_variant SKCA-BR 8 124112811 124112811 single base substitution C T upstream_gene_variant SKCA-BR 8 124114583 124114583 insertion of <=200bp - AGTGGCATTTGCC 3_prime_UTR_variant SKCA-BR 8 124114583 124114583 insertion of <=200bp - AGTGGCATTTGCC downstream_gene_variant SKCA-BR 8 124114583 124114583 insertion of <=200bp - AGTGGCATTTGCC intron_variant SKCA-BR 8 124118241 124118241 single base substitution C T downstream_gene_variant SKCA-BR 8 124118241 124118241 single base substitution C T intron_variant SKCA-BR 8 124118241 124118241 single base substitution C T upstream_gene_variant SKCA-BR 8 124122514 124122514 single base substitution A C downstream_gene_variant SKCA-BR 8 124122514 124122514 single base substitution A C intron_variant SKCA-BR 8 124125372 124125372 single base substitution C T downstream_gene_variant SKCA-BR 8 124125372 124125372 single base substitution C T intron_variant SKCA-BR 8 124127547 124127547 single base substitution G T intron_variant SKCA-BR 8 124129439 124129439 single base substitution C T intron_variant SKCA-BR 8 124130897 124130897 single base substitution A C intron_variant SKCA-BR 8 124133854 124133854 single base substitution C G intron_variant SKCA-BR 8 124135844 124135844 single base substitution G T intron_variant SKCA-BR 8 124135844 124135844 single base substitution G T upstream_gene_variant SKCA-BR 8 124137178 124137178 insertion of <=200bp - CA intron_variant SKCA-BR 8 124137178 124137178 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 8 124141794 124141794 single base substitution T C downstream_gene_variant SKCA-BR 8 124141794 124141794 single base substitution T C intron_variant SKCA-BR 8 124142548 124142548 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 124142548 124142548 single base substitution G A downstream_gene_variant SKCA-BR 8 124142548 124142548 single base substitution G A exon_variant SKCA-BR 8 124142548 124142548 single base substitution G A missense_variant R348K 1043G>A SKCA-BR 8 124142548 124142548 single base substitution G A missense_variant R671K 2012G>A SKCA-BR 8 124142548 124142548 single base substitution G A missense_variant R689K 2066G>A SKCA-BR 8 124142548 124142548 single base substitution G A missense_variant R794K 2381G>A SKCA-BR 8 124144003 124144004 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 8 124144003 124144004 deletion of <=200bp CT - intron_variant SKCA-BR 8 124144004 124144004 single base substitution T G downstream_gene_variant SKCA-BR 8 124144004 124144004 single base substitution T G intron_variant SKCA-BR 8 124144006 124144006 single base substitution T G downstream_gene_variant SKCA-BR 8 124144006 124144006 single base substitution T G intron_variant SKCA-BR 8 124145808 124145808 single base substitution C T downstream_gene_variant SKCA-BR 8 124145808 124145808 single base substitution C T intron_variant SKCA-BR 8 124154436 124154436 single base substitution G A intron_variant SKCA-BR 8 124155254 124155254 single base substitution C T downstream_gene_variant SKCA-BR 8 124155254 124155254 single base substitution C T intron_variant SKCA-BR 8 124157932 124157932 insertion of <=200bp - TAA downstream_gene_variant SKCA-BR 8 124157932 124157932 insertion of <=200bp - TAA intron_variant SKCA-BR 8 124159638 124159638 single base substitution C T downstream_gene_variant SKCA-BR 8 124159638 124159638 single base substitution C T intron_variant SKCA-BR 8 124164263 124164263 single base substitution C T 3_prime_UTR_variant SKCA-BR 8 124164263 124164263 single base substitution C T downstream_gene_variant SKCA-BR 8 124164594 124164594 single base substitution A C downstream_gene_variant SKCA-BR 8 124166460 124166460 single base substitution C T downstream_gene_variant SKCA-BR 8 124169336 124169336 single base substitution T G downstream_gene_variant SKCM-US 8 124054285 124054285 single base substitution G A 5_prime_UTR_variant SKCM-US 8 124094997 124094997 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 8 124094997 124094997 single base substitution C T exon_variant SKCM-US 8 124094997 124094997 single base substitution C T intron_variant SKCM-US 8 124094997 124094997 single base substitution C T missense_variant R84C 250C>T SKCM-US 8 124094997 124094997 single base substitution C T missense_variant R94C 280C>T SKCM-US 8 124096453 124096453 single base substitution C T 3_prime_UTR_variant SKCM-US 8 124096453 124096453 single base substitution C T exon_variant SKCM-US 8 124096453 124096453 single base substitution C T intron_variant SKCM-US 8 124096453 124096453 single base substitution C T missense_variant S10L 29C>T SKCM-US 8 124096453 124096453 single base substitution C T missense_variant S121L 362C>T SKCM-US 8 124096453 124096453 single base substitution C T missense_variant S131L 392C>T SKCM-US 8 124096453 124096453 single base substitution C T missense_variant S26L 77C>T SKCM-US 8 124105836 124105836 single base substitution C T 3_prime_UTR_variant SKCM-US 8 124105836 124105836 single base substitution C T exon_variant SKCM-US 8 124105836 124105836 single base substitution C T intron_variant SKCM-US 8 124105836 124105836 single base substitution C T synonymous_variant F165F 495C>T SKCM-US 8 124105836 124105836 single base substitution C T synonymous_variant F175F 525C>T SKCM-US 8 124105836 124105836 single base substitution C T synonymous_variant F54F 162C>T SKCM-US 8 124105836 124105836 single base substitution C T synonymous_variant F70F 210C>T SKCM-US 8 124105836 124105836 single base substitution C T upstream_gene_variant SKCM-US 8 124105884 124105884 single base substitution C T 3_prime_UTR_variant SKCM-US 8 124105884 124105884 single base substitution C T downstream_gene_variant SKCM-US 8 124105884 124105884 single base substitution C T exon_variant SKCM-US 8 124105884 124105884 single base substitution C T intron_variant SKCM-US 8 124105884 124105884 single base substitution C T synonymous_variant S181S 543C>T SKCM-US 8 124105884 124105884 single base substitution C T synonymous_variant S191S 573C>T SKCM-US 8 124105884 124105884 single base substitution C T synonymous_variant S86S 258C>T SKCM-US 8 124105884 124105884 single base substitution C T upstream_gene_variant SKCM-US 8 124113183 124113183 single base substitution C T 3_prime_UTR_variant SKCM-US 8 124113183 124113183 single base substitution C T downstream_gene_variant SKCM-US 8 124113183 124113183 single base substitution C T exon_variant SKCM-US 8 124113183 124113183 single base substitution C T intron_variant SKCM-US 8 124113183 124113183 single base substitution C T missense_variant S126F 377C>T SKCM-US 8 124113183 124113183 single base substitution C T missense_variant S218F 653C>T SKCM-US 8 124113183 124113183 single base substitution C T missense_variant S323F 968C>T SKCM-US 8 124113183 124113183 single base substitution C T upstream_gene_variant SKCM-US 8 124117616 124117616 single base substitution G A 3_prime_UTR_variant SKCM-US 8 124117616 124117616 single base substitution G A downstream_gene_variant SKCM-US 8 124117616 124117616 single base substitution G A missense_variant R269K 806G>A SKCM-US 8 124117616 124117616 single base substitution G A missense_variant R374K 1121G>A SKCM-US 8 124117616 124117616 single base substitution G A missense_variant R42K 125G>A SKCM-US 8 124117616 124117616 single base substitution G A missense_variant R7K 20G>A SKCM-US 8 124117616 124117616 single base substitution G A upstream_gene_variant SKCM-US 8 124138427 124138427 single base substitution C A missense_variant Q201K 601C>A SKCM-US 8 124138427 124138427 single base substitution C A missense_variant Q445K 1333C>A SKCM-US 8 124138427 124138427 single base substitution C A missense_variant Q463K 1387C>A SKCM-US 8 124138427 124138427 single base substitution C A missense_variant Q568K 1702C>A SKCM-US 8 124138427 124138427 single base substitution C A splice_region_variant SKCM-US 8 124138427 124138427 single base substitution C A upstream_gene_variant SKCM-US 8 124138819 124138819 single base substitution C T 3_prime_UTR_variant SKCM-US 8 124138819 124138819 single base substitution C T synonymous_variant F225F 675C>T SKCM-US 8 124138819 124138819 single base substitution C T synonymous_variant F469F 1407C>T SKCM-US 8 124138819 124138819 single base substitution C T synonymous_variant F487F 1461C>T SKCM-US 8 124138819 124138819 single base substitution C T synonymous_variant F592F 1776C>T SKCM-US 8 124138819 124138819 single base substitution C T upstream_gene_variant SKCM-US 8 124140536 124140536 single base substitution C T 3_prime_UTR_variant SKCM-US 8 124140536 124140536 single base substitution C T exon_variant SKCM-US 8 124140536 124140536 single base substitution C T intron_variant SKCM-US 8 124140536 124140536 single base substitution C T missense_variant R511W 1531C>T SKCM-US 8 124140536 124140536 single base substitution C T missense_variant R529W 1585C>T SKCM-US 8 124140536 124140536 single base substitution C T missense_variant R634W 1900C>T SKCM-US 8 124140586 124140586 single base substitution G A 3_prime_UTR_variant SKCM-US 8 124140586 124140586 single base substitution G A exon_variant SKCM-US 8 124140586 124140586 single base substitution G A intron_variant SKCM-US 8 124140586 124140586 single base substitution G A missense_variant M527I 1581G>A SKCM-US 8 124140586 124140586 single base substitution G A missense_variant M545I 1635G>A SKCM-US 8 124140586 124140586 single base substitution G A missense_variant M650I 1950G>A STAD-US 8 124089413 124089413 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 8 124089413 124089413 single base substitution A C exon_variant STAD-US 8 124089413 124089413 single base substitution A C intron_variant STAD-US 8 124089413 124089413 single base substitution A C missense_variant N37T 110A>C STAD-US 8 124089413 124089413 single base substitution A C missense_variant N47T 140A>C STAD-US 8 124096454 124096454 single base substitution G A 3_prime_UTR_variant STAD-US 8 124096454 124096454 single base substitution G A exon_variant STAD-US 8 124096454 124096454 single base substitution G A intron_variant STAD-US 8 124096454 124096454 single base substitution G A synonymous_variant S10S 30G>A STAD-US 8 124096454 124096454 single base substitution G A synonymous_variant S121S 363G>A STAD-US 8 124096454 124096454 single base substitution G A synonymous_variant S131S 393G>A STAD-US 8 124096454 124096454 single base substitution G A synonymous_variant S26S 78G>A STAD-US 8 124096483 124096483 single base substitution C T 3_prime_UTR_variant STAD-US 8 124096483 124096483 single base substitution C T exon_variant STAD-US 8 124096483 124096483 single base substitution C T intron_variant STAD-US 8 124096483 124096483 single base substitution C T missense_variant A131V 392C>T STAD-US 8 124096483 124096483 single base substitution C T missense_variant A141V 422C>T STAD-US 8 124096483 124096483 single base substitution C T missense_variant A20V 59C>T STAD-US 8 124096483 124096483 single base substitution C T missense_variant A36V 107C>T STAD-US 8 124096519 124096519 single base substitution A G 3_prime_UTR_variant STAD-US 8 124096519 124096519 single base substitution A G downstream_gene_variant STAD-US 8 124096519 124096519 single base substitution A G exon_variant STAD-US 8 124096519 124096519 single base substitution A G intron_variant STAD-US 8 124096519 124096519 single base substitution A G missense_variant D143G 428A>G STAD-US 8 124096519 124096519 single base substitution A G missense_variant D153G 458A>G STAD-US 8 124096519 124096519 single base substitution A G missense_variant D32G 95A>G STAD-US 8 124096519 124096519 single base substitution A G missense_variant D48G 143A>G STAD-US 8 124121565 124121565 single base substitution A G 3_prime_UTR_variant STAD-US 8 124121565 124121565 single base substitution A G synonymous_variant L301L 903A>G STAD-US 8 124121565 124121565 single base substitution A G synonymous_variant L39L 117A>G STAD-US 8 124121565 124121565 single base substitution A G synonymous_variant L406L 1218A>G STAD-US 8 124121565 124121565 single base substitution A G synonymous_variant L74L 222A>G STAD-US 8 124121565 124121565 single base substitution A G upstream_gene_variant STAD-US 8 124121715 124121715 single base substitution A C intron_variant STAD-US 8 124121715 124121715 single base substitution A C missense_variant M326L 976A>C STAD-US 8 124121715 124121715 single base substitution A C missense_variant M431L 1291A>C STAD-US 8 124121715 124121715 single base substitution A C missense_variant M64L 190A>C STAD-US 8 124121715 124121715 single base substitution A C missense_variant M99L 295A>C STAD-US 8 124121715 124121715 single base substitution A C splice_region_variant STAD-US 8 124121761 124121761 single base substitution C T 3_prime_UTR_variant STAD-US 8 124121761 124121761 single base substitution C T exon_variant STAD-US 8 124121761 124121761 single base substitution C T missense_variant A114V 341C>T STAD-US 8 124121761 124121761 single base substitution C T missense_variant A341V 1022C>T STAD-US 8 124121761 124121761 single base substitution C T missense_variant A446V 1337C>T STAD-US 8 124121761 124121761 single base substitution C T missense_variant A79V 236C>T STAD-US 8 124121761 124121761 single base substitution C T splice_region_variant STAD-US 8 124138363 124138363 single base substitution A C 3_prime_UTR_variant STAD-US 8 124138363 124138363 single base substitution A C missense_variant E179D 537A>C STAD-US 8 124138363 124138363 single base substitution A C missense_variant E423D 1269A>C STAD-US 8 124138363 124138363 single base substitution A C missense_variant E441D 1323A>C STAD-US 8 124138363 124138363 single base substitution A C missense_variant E546D 1638A>C STAD-US 8 124138363 124138363 single base substitution A C upstream_gene_variant STAD-US 8 124140543 124140543 single base substitution A G 3_prime_UTR_variant STAD-US 8 124140543 124140543 single base substitution A G exon_variant STAD-US 8 124140543 124140543 single base substitution A G intron_variant STAD-US 8 124140543 124140543 single base substitution A G missense_variant N513S 1538A>G STAD-US 8 124140543 124140543 single base substitution A G missense_variant N531S 1592A>G STAD-US 8 124140543 124140543 single base substitution A G missense_variant N636S 1907A>G STAD-US 8 124140619 124140619 single base substitution C T 3_prime_UTR_variant STAD-US 8 124140619 124140619 single base substitution C T exon_variant STAD-US 8 124140619 124140619 single base substitution C T intron_variant STAD-US 8 124140619 124140619 single base substitution C T synonymous_variant S538S 1614C>T STAD-US 8 124140619 124140619 single base substitution C T synonymous_variant S556S 1668C>T STAD-US 8 124140619 124140619 single base substitution C T synonymous_variant S661S 1983C>T STAD-US 8 124153051 124153051 single base substitution A G 3_prime_UTR_variant STAD-US 8 124153051 124153051 single base substitution A G exon_variant STAD-US 8 124153051 124153051 single base substitution A G synonymous_variant A404A 1212A>G STAD-US 8 124153051 124153051 single base substitution A G synonymous_variant A727A 2181A>G STAD-US 8 124153051 124153051 single base substitution A G synonymous_variant A745A 2235A>G STAD-US 8 124153051 124153051 single base substitution A G synonymous_variant A819A 2457A>G STAD-US 8 124153051 124153051 single base substitution A G synonymous_variant A850A 2550A>G STAD-US 8 124164129 124164129 single base substitution A G 3_prime_UTR_variant STAD-US 8 124164129 124164129 single base substitution A G missense_variant T1051A 3151A>G STAD-US 8 124164129 124164129 single base substitution A G missense_variant T605A 1813A>G STAD-US 8 124164129 124164129 single base substitution A G missense_variant T928A 2782A>G STAD-US 8 124164129 124164129 single base substitution A G missense_variant T946A 2836A>G STAD-US 8 124164129 124164129 single base substitution A G missense_variant T955A 2863A>G STAD-US 8 124164129 124164129 single base substitution A G missense_variant T986A 2956A>G THCA-SA 8 124054602 124054602 single base substitution A C 5_prime_UTR_variant THCA-SA 8 124084959 124084959 single base substitution C A 5_prime_UTR_variant THCA-SA 8 124084959 124084959 single base substitution C A intron_variant THCA-SA 8 124084959 124084959 single base substitution C A upstream_gene_variant UCEC-US 8 124089350 124089350 single base substitution G T intron_variant UCEC-US 8 124089350 124089350 single base substitution G T splice_acceptor_variant UCEC-US 8 124096440 124096440 single base substitution T G 3_prime_UTR_variant UCEC-US 8 124096440 124096440 single base substitution T G exon_variant UCEC-US 8 124096440 124096440 single base substitution T G intron_variant UCEC-US 8 124096440 124096440 single base substitution T G missense_variant S117A 349T>G UCEC-US 8 124096440 124096440 single base substitution T G missense_variant S127A 379T>G UCEC-US 8 124096440 124096440 single base substitution T G missense_variant S22A 64T>G UCEC-US 8 124096440 124096440 single base substitution T G missense_variant S6A 16T>G UCEC-US 8 124096453 124096453 single base substitution C T 3_prime_UTR_variant UCEC-US 8 124096453 124096453 single base substitution C T exon_variant UCEC-US 8 124096453 124096453 single base substitution C T intron_variant UCEC-US 8 124096453 124096453 single base substitution C T missense_variant S10L 29C>T UCEC-US 8 124096453 124096453 single base substitution C T missense_variant S121L 362C>T UCEC-US 8 124096453 124096453 single base substitution C T missense_variant S131L 392C>T UCEC-US 8 124096453 124096453 single base substitution C T missense_variant S26L 77C>T UCEC-US 8 124105858 124105858 deletion of <=200bp A - 3_prime_UTR_variant UCEC-US 8 124105858 124105858 deletion of <=200bp A - exon_variant UCEC-US 8 124105858 124105858 deletion of <=200bp A - frameshift_variant I173 UCEC-US 8 124105858 124105858 deletion of <=200bp A - frameshift_variant I183 UCEC-US 8 124105858 124105858 deletion of <=200bp A - frameshift_variant I62 UCEC-US 8 124105858 124105858 deletion of <=200bp A - frameshift_variant I78 UCEC-US 8 124105858 124105858 deletion of <=200bp A - intron_variant UCEC-US 8 124105858 124105858 deletion of <=200bp A - upstream_gene_variant UCEC-US 8 124109567 124109567 single base substitution T C 3_prime_UTR_variant UCEC-US 8 124109567 124109567 single base substitution T C downstream_gene_variant UCEC-US 8 124109567 124109567 single base substitution T C exon_variant UCEC-US 8 124109567 124109567 single base substitution T C intron_variant UCEC-US 8 124109567 124109567 single base substitution T C synonymous_variant H134H 402T>C UCEC-US 8 124109567 124109567 single base substitution T C synonymous_variant H229H 687T>C UCEC-US 8 124109567 124109567 single base substitution T C synonymous_variant H239H 717T>C UCEC-US 8 124109567 124109567 single base substitution T C synonymous_variant H42H 126T>C UCEC-US 8 124109567 124109567 single base substitution T C upstream_gene_variant UCEC-US 8 124113171 124113171 single base substitution G A 3_prime_UTR_variant UCEC-US 8 124113171 124113171 single base substitution G A downstream_gene_variant UCEC-US 8 124113171 124113171 single base substitution G A exon_variant UCEC-US 8 124113171 124113171 single base substitution G A intron_variant UCEC-US 8 124113171 124113171 single base substitution G A missense_variant R122Q 365G>A UCEC-US 8 124113171 124113171 single base substitution G A missense_variant R214Q 641G>A UCEC-US 8 124113171 124113171 single base substitution G A missense_variant R319Q 956G>A UCEC-US 8 124113171 124113171 single base substitution G A upstream_gene_variant UCEC-US 8 124117676 124117676 single base substitution A G 3_prime_UTR_variant UCEC-US 8 124117676 124117676 single base substitution A G downstream_gene_variant UCEC-US 8 124117676 124117676 single base substitution A G missense_variant D27G 80A>G UCEC-US 8 124117676 124117676 single base substitution A G missense_variant D289G 866A>G UCEC-US 8 124117676 124117676 single base substitution A G missense_variant D394G 1181A>G UCEC-US 8 124117676 124117676 single base substitution A G missense_variant D62G 185A>G UCEC-US 8 124117676 124117676 single base substitution A G upstream_gene_variant UCEC-US 8 124121566 124121566 single base substitution C T 3_prime_UTR_variant UCEC-US 8 124121566 124121566 single base substitution C T missense_variant P302S 904C>T UCEC-US 8 124121566 124121566 single base substitution C T missense_variant P407S 1219C>T UCEC-US 8 124121566 124121566 single base substitution C T missense_variant P40S 118C>T UCEC-US 8 124121566 124121566 single base substitution C T missense_variant P75S 223C>T UCEC-US 8 124121566 124121566 single base substitution C T upstream_gene_variant UCEC-US 8 124121587 124121587 single base substitution C T 3_prime_UTR_variant UCEC-US 8 124121587 124121587 single base substitution C T exon_variant UCEC-US 8 124121587 124121587 single base substitution C T missense_variant R309C 925C>T UCEC-US 8 124121587 124121587 single base substitution C T missense_variant R414C 1240C>T UCEC-US 8 124121587 124121587 single base substitution C T missense_variant R47C 139C>T UCEC-US 8 124121587 124121587 single base substitution C T missense_variant R82C 244C>T UCEC-US 8 124132306 124132306 single base substitution C T 3_prime_UTR_variant UCEC-US 8 124132306 124132306 single base substitution C T intron_variant UCEC-US 8 124132306 124132306 single base substitution C T missense_variant A116V 347C>T UCEC-US 8 124132306 124132306 single base substitution C T missense_variant A360V 1079C>T UCEC-US 8 124132306 124132306 single base substitution C T missense_variant A378V 1133C>T UCEC-US 8 124132306 124132306 single base substitution C T missense_variant A483V 1448C>T UCEC-US 8 124132355 124132355 single base substitution C T 3_prime_UTR_variant UCEC-US 8 124132355 124132355 single base substitution C T intron_variant UCEC-US 8 124132355 124132355 single base substitution C T synonymous_variant L132L 396C>T UCEC-US 8 124132355 124132355 single base substitution C T synonymous_variant L376L 1128C>T UCEC-US 8 124132355 124132355 single base substitution C T synonymous_variant L394L 1182C>T UCEC-US 8 124132355 124132355 single base substitution C T synonymous_variant L499L 1497C>T UCEC-US 8 124138754 124138754 single base substitution G A 3_prime_UTR_variant UCEC-US 8 124138754 124138754 single base substitution G A missense_variant A204T 610G>A UCEC-US 8 124138754 124138754 single base substitution G A missense_variant A448T 1342G>A UCEC-US 8 124138754 124138754 single base substitution G A missense_variant A466T 1396G>A UCEC-US 8 124138754 124138754 single base substitution G A missense_variant A571T 1711G>A UCEC-US 8 124138754 124138754 single base substitution G A upstream_gene_variant UCEC-US 8 124140595 124140595 single base substitution G A 3_prime_UTR_variant UCEC-US 8 124140595 124140595 single base substitution G A exon_variant UCEC-US 8 124140595 124140595 single base substitution G A intron_variant UCEC-US 8 124140595 124140595 single base substitution G A synonymous_variant T530T 1590G>A UCEC-US 8 124140595 124140595 single base substitution G A synonymous_variant T548T 1644G>A UCEC-US 8 124140595 124140595 single base substitution G A synonymous_variant T653T 1959G>A UCEC-US 8 124140710 124140710 single base substitution C T 3_prime_UTR_variant UCEC-US 8 124140710 124140710 single base substitution C T exon_variant UCEC-US 8 124140710 124140710 single base substitution C T intron_variant UCEC-US 8 124140710 124140710 single base substitution C T stop_gained R569* 1705C>T UCEC-US 8 124140710 124140710 single base substitution C T stop_gained R587* 1759C>T UCEC-US 8 124140710 124140710 single base substitution C T stop_gained R692* 2074C>T UCEC-US 8 124142554 124142554 single base substitution A G 3_prime_UTR_variant UCEC-US 8 124142554 124142554 single base substitution A G downstream_gene_variant UCEC-US 8 124142554 124142554 single base substitution A G exon_variant UCEC-US 8 124142554 124142554 single base substitution A G missense_variant D350G 1049A>G UCEC-US 8 124142554 124142554 single base substitution A G missense_variant D673G 2018A>G UCEC-US 8 124142554 124142554 single base substitution A G missense_variant D691G 2072A>G UCEC-US 8 124142554 124142554 single base substitution A G missense_variant D796G 2387A>G UCEC-US 8 124146429 124146429 single base substitution A C 3_prime_UTR_variant UCEC-US 8 124146429 124146429 single base substitution A C intron_variant UCEC-US 8 124146429 124146429 single base substitution A C missense_variant K382Q 1144A>C UCEC-US 8 124146429 124146429 single base substitution A C missense_variant K705Q 2113A>C UCEC-US 8 124146429 124146429 single base substitution A C missense_variant K723Q 2167A>C UCEC-US 8 124146429 124146429 single base substitution A C missense_variant K828Q 2482A>C UCEC-US 8 124146433 124146433 single base substitution G A 3_prime_UTR_variant UCEC-US 8 124146433 124146433 single base substitution G A intron_variant UCEC-US 8 124146433 124146433 single base substitution G A missense_variant R383K 1148G>A UCEC-US 8 124146433 124146433 single base substitution G A missense_variant R706K 2117G>A UCEC-US 8 124146433 124146433 single base substitution G A missense_variant R724K 2171G>A UCEC-US 8 124146433 124146433 single base substitution G A missense_variant R829K 2486G>A UCEC-US 8 124164165 124164165 single base substitution C A 3_prime_UTR_variant UCEC-US 8 124164165 124164165 single base substitution C A missense_variant L1063I 3187C>A UCEC-US 8 124164165 124164165 single base substitution C A missense_variant L617I 1849C>A UCEC-US 8 124164165 124164165 single base substitution C A missense_variant L940I 2818C>A UCEC-US 8 124164165 124164165 single base substitution C A missense_variant L958I 2872C>A UCEC-US 8 124164165 124164165 single base substitution C A missense_variant L967I 2899C>A UCEC-US 8 124164165 124164165 single base substitution C A missense_variant L998I 2992C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CZ-4853-01 COSM486035 c.1579T>A p.C527S Substitution - Missense 8:123126064-123126064 + TCGA-AO-A03M-01 COSM3833987 c.1754G>C p.R585T Substitution - Missense 8:123126557-123126557 + 2492703 COSM5600857 c.775C>T p.R259* Substitution - Nonsense 8:123097385-123097385 + TCGA-EI-6917-01 COSM1581938 c.1776C>T p.F592F Substitution - coding silent 8:123126579-123126579 + TCGA-B5-A0JY-01 COSM1095685 c.78-1G>T p.? Unknown 8:123077110-123077110 + P162 COSM1737818 c.679C>T p.R227* Substitution - Nonsense 8:123097289-123097289 + TCGA-A5-A0VP-01 COSM1095711 c.2074C>T p.R692* Substitution - Nonsense 8:123128470-123128470 + TCGA-B5-A11E-01 COSM1095697 c.1181A>G p.D394G Substitution - Missense 8:123105436-123105436 + CN-AML-CR-2-Dx COSM4967669 c.2835+1G>T p.? Unknown 8:123142457-123142457 + PD8995a COSM5782293 c.393G>T p.S131S Substitution - coding silent 8:123084214-123084214 + CSCC-18-T COSM4453967 c.378A>T p.E126D Substitution - Missense 8:123084199-123084199 + TCGA-AZ-4315-01 COSM1454620 c.2422C>T p.R808* Substitution - Nonsense 8:123134129-123134129 + TCGA-G4-6297-01 COSM3698816 c.496C>T p.R166C Substitution - Missense 8:123084317-123084317 + GC8_T COSM150530 c.1848G>A p.T616T Substitution - coding silent 8:123126651-123126651 + SNUH_G16_S1 COSM3982379 c.2322T>C p.D774D Substitution - coding silent 8:123130249-123130249 + sysucc-1397T COSM5475121 c.2464C>G p.L822V Substitution - Missense 8:123134171-123134171 + TCGA-HJ-7597-01 COSM3896522 c.1337C>T p.A446V Substitution - Missense 8:123109521-123109521 + 8 COSM3166064 c.975G>A p.M325I Substitution - Missense 8:123100950-123100950 + Pat_60_B COSM3769760 c.2863C>T p.R955C Substitution - Missense 8:123144744-123144744 + PT48 COSM5932326 c.1687C>T p.H563Y Substitution - Missense 8:123126172-123126172 + TCGA-A6-6781-01 COSM5083694 c.1885-1_1885insT p.H632fs*5 Unknown 8:123128280-123128281 + DLBCL799 COSM1581939 c.2033A>G p.N678S Substitution - Missense 8:123128429-123128429 + DN14067 COSM5960650 c.3039C>T p.D1013D Substitution - coding silent 8:123150100-123150100 + YURAY COSM5408760 c.297C>T p.F99F Substitution - coding silent 8:123082774-123082774 + TCGA-BH-A18V-06 COSM3833986 c.1354G>C p.D452H Substitution - Missense 8:123109538-123109538 + TCGA-F4-6570-01 COSM1454621 c.2540G>A p.R847Q Substitution - Missense 8:123140801-123140801 + SW480 COSM4656020 c.1336G>A p.A446T Substitution - Missense 8:123109520-123109520 + RK222_C01 COSM4944668 c.1764G>T p.W588C Substitution - Missense 8:123126567-123126567 + TCGA-EE-A2GE-06 COSM3644757 c.1950G>A p.M650I Substitution - Missense 8:123128346-123128346 + TCGA-B5-A11E-01 COSM1095699 c.1219C>T p.P407S Substitution - Missense 8:123109326-123109326 + 2 COSM4172445 c.988C>G p.L330V Substitution - Missense 8:123100963-123100963 + TCGA-AP-A0LM-01 COSM1095689 c.392C>T p.S131L Substitution - Missense 8:123084213-123084213 + DLD1 COSM3166098 c.3104C>T p.T1035M Substitution - Missense 8:123151842-123151842 + TCGA-70-6723-01 COSM749507 c.1462T>A p.S488T Substitution - Missense 8:123120080-123120080 + Au2 COSM5600857 c.775C>T p.R259* Substitution - Nonsense 8:123097385-123097385 + RKO COSM4649159 c.928A>G p.S310G Substitution - Missense 8:123100903-123100903 + TCGA-EE-A29E-06 COSM1095689 c.392C>T p.S131L Substitution - Missense 8:123084213-123084213 + TCGA-EE-A20C-06 COSM3644753 c.573C>T p.S191S Substitution - coding silent 8:123093644-123093644 + sysucc-783T COSM5484956 c.849T>A p.S283R Substitution - Missense 8:123100824-123100824 + PD7188a COSM3769760 c.2863C>T p.R955C Substitution - Missense 8:123144744-123144744 + CP66-MEL COSM25449 c.2500-1G>A p.? Unknown 8:123140760-123140760 + HF-23896 COSM1197560 c.1912G>A p.D638N Substitution - Missense 8:123128308-123128308 + TCGA-A6-2686-01 COSM5083694 c.1885-1_1885insT p.H632fs*5 Unknown 8:123128280-123128281 + TCGA-22-4604-01 COSM749500 c.2908A>G p.R970G Substitution - Missense 8:123144789-123144789 + PT09_1 COSM5894901 c.2738G>C p.R913P Substitution - Missense 8:123142359-123142359 + TCGA-D1-A17Q-01 COSM1095721 c.3187C>A p.L1063I Substitution - Missense 8:123151925-123151925 + TCGA-DR-A0ZM-01 COSM461491 c.2415G>C p.M805I Substitution - Missense 8:123134122-123134122 + TCGA-A8-A08P-01 COSM453946 c.431_433delCTT p.S146delS Deletion - In frame 8:123084252-123084254 + pfg069T COSM4760950 c.673G>T p.D225Y Substitution - Missense 8:123097283-123097283 + HCC073T COSM5821935 c.39G>C p.K13N Substitution - Missense 8:123072808-123072808 + YULAN COSM1700597 c.968C>T p.S323F Substitution - Missense 8:123100943-123100943 + BK0019 COSM4186150 c.905T>A p.I302N Substitution - Missense 8:123100880-123100880 + TCGA-CM-6680-01 COSM5105830 c.1885delT p.H632fs*8 Deletion - Frameshift 8:123128281-123128281 + PD7188a COSM3769761 c.2862C>T p.F954F Substitution - coding silent 8:123144743-123144743 + TCGA-AA-A00N-01 COSM278130 c.393G>A p.S131S Substitution - coding silent 8:123084214-123084214 + DN11135 COSM5782293 c.393G>T p.S131S Substitution - coding silent 8:123084214-123084214 + 116 COSM1741474 c.2509G>C p.E837Q Substitution - Missense 8:123140770-123140770 + TCGA-22-4613-01 COSM749503 c.2108T>C p.L703S Substitution - Missense 8:123128504-123128504 + H1155 COSM1195819 c.2846C>T p.A949V Substitution - Missense 8:123144727-123144727 + TCGA-B6-A0IO-01 COSM453950 c.3066G>A p.Q1022Q Substitution - coding silent 8:123150127-123150127 + 3_RESISTANT COSM1723769 c.2472C>T p.L824L Substitution - coding silent 8:123134179-123134179 + 8048309 COSM3395092 c.2678G>T p.C893F Substitution - Missense 8:123142299-123142299 + 2492720 COSM5723952 c.2271-2A>G p.? Unknown 8:123130196-123130196 + TCGA-19-5951-01 COSM2156600 c.854A>G p.D285G Substitution - Missense 8:123100829-123100829 + DLD1 COSM4626119 c.338C>T p.T113I Substitution - Missense 8:123082815-123082815 + S01516 COSM5669218 c.2969A>G p.H990R Substitution - Missense 8:123144850-123144850 + PD4601a COSM165588 c.228C>T p.F76F Substitution - coding silent 8:123082705-123082705 + HCC122T COSM5808629 c.598C>T p.L200F Substitution - Missense 8:123093669-123093669 + 587386 COSM1232645 c.2527G>A p.A843T Substitution - Missense 8:123140788-123140788 + TCGA-19-5951 COSM2156600 c.854A>G p.D285G Substitution - Missense 8:123100829-123100829 + TCGA-34-5240-01 COSM749499 c.2929G>T p.E977* Substitution - Nonsense 8:123144810-123144810 + 2492702 COSM5600857 c.775C>T p.R259* Substitution - Nonsense 8:123097385-123097385 + TCGA-HU-A4H3-01 COSM3896520 c.1218A>G p.L406L Substitution - coding silent 8:123109325-123109325 + TCGA-BS-A0UV-01 COSM1095715 c.2482A>C p.K828Q Substitution - Missense 8:123134189-123134189 + TCGA-C8-A26Y-01 COSM3833988 c.3071C>G p.S1024C Substitution - Missense 8:123151809-123151809 + CSCC-62-T COSM4486459 c.3056C>T p.P1019L Substitution - Missense 8:123150117-123150117 + 2492700 COSM5600857 c.775C>T p.R259* Substitution - Nonsense 8:123097385-123097385 + T2 COSM3763031 c.1812G>A p.L604L Substitution - coding silent 8:123126615-123126615 + TCGA-AA-A02R-01 COSM5105830 c.1885delT p.H632fs*8 Deletion - Frameshift 8:123128281-123128281 + TCGA-AD-6964-01 COSM5105830 c.1885delT p.H632fs*8 Deletion - Frameshift 8:123128281-123128281 + CHC205T COSM3669803 c.1265A>T p.Y422F Substitution - Missense 8:123109372-123109372 + PD6719a COSM5778742 c.1058T>C p.I353T Substitution - Missense 8:123105313-123105313 + 1N63-VS-1T63 COSM4978012 c.606C>T p.C202C Substitution - coding silent 8:123093677-123093677 + TCGA-AM-5820-01 COSM3763030 c.1374A>G p.A458A Substitution - coding silent 8:123109558-123109558 + TCGA-39-5031-01 COSM749504 c.1489C>T p.L497F Substitution - Missense 8:123120107-123120107 + TCGA-F1-6874-01 COSM3896521 c.1291A>C p.M431L Substitution - Missense 8:123109475-123109475 + YUFIT COSM3412735 c.715C>T p.H239Y Substitution - Missense 8:123097325-123097325 + BD239T COSM5497155 c.2407G>A p.V803I Substitution - Missense 8:123134114-123134114 + ESCC_BICR_036T COSM5432246 c.2460A>T p.R820S Substitution - Missense 8:123134167-123134167 + TCGA-HU-A4GC-01 COSM278130 c.393G>A p.S131S Substitution - coding silent 8:123084214-123084214 + TCGA-AX-A0J1-01 COSM1095707 c.1711G>A p.A571T Substitution - Missense 8:123126514-123126514 + TCGA-D8-A1Y1-01 COSM1488973 c.614A>G p.Q205R Substitution - Missense 8:123093685-123093685 + HN_62421 COSM130206 c.1096C>G p.L366V Substitution - Missense 8:123105351-123105351 + TCGA-BR-8680-01 COSM3896519 c.458A>G p.D153G Substitution - Missense 8:123084279-123084279 + TCGA-A2-A04W-01 COSM453948 c.1542C>T p.I514I Substitution - coding silent 8:123120160-123120160 + TCGA-EE-A3JD-06 COSM1700597 c.968C>T p.S323F Substitution - Missense 8:123100943-123100943 + 2492723 COSM5723952 c.2271-2A>G p.? Unknown 8:123130196-123130196 + DLBCL890 COSM1581937 c.1318C>G p.L440V Substitution - Missense 8:123109502-123109502 + PT09_2 COSM5894901 c.2738G>C p.R913P Substitution - Missense 8:123142359-123142359 + TCGA-DK-A3X1-01 COSM3778868 c.2561G>A p.R854K Substitution - Missense 8:123140822-123140822 + B10-Tumor COSM4006834 c.28G>A p.E10K Substitution - Missense 8:123072797-123072797 + Gp5D COSM3166096 c.2989C>T p.Q997* Substitution - Nonsense 8:123150050-123150050 + PD3195a COSM1659024 c.845T>A p.L282Q Substitution - Missense 8:123100820-123100820 + TCGA-AD-5900-01 COSM1454618 c.1303C>T p.R435C Substitution - Missense 8:123109487-123109487 + TCGA-CA-6718-01 COSM1095701 c.1240C>T p.R414C Substitution - Missense 8:123109347-123109347 + Pat_07_B COSM5083694 c.1885-1_1885insT p.H632fs*5 Unknown 8:123128280-123128281 + TCGA-EB-A4IS-01 COSM3644752 c.280C>T p.R94C Substitution - Missense 8:123082757-123082757 + GC8_T COSM150531 c.1998T>C p.F666F Substitution - coding silent 8:123128394-123128394 + BD228T COSM5508738 c.672-10G>C p.? Unknown 8:123097272-123097272 + CSCC-27-T COSM1095689 c.392C>T p.S131L Substitution - Missense 8:123084213-123084213 + CSCC-47-T COSM4516328 c.1802_1803CC>TT p.S601F Substitution - Missense 8:123126605-123126606 + TCGA-A2-A25A-01 COSM1488975 c.2774G>T p.R925M Substitution - Missense 8:123142395-123142395 + TCGA-BH-A0EE-01 COSM453949 c.2201G>A p.R734H Substitution - Missense 8:123129149-123129149 + TCGA-F4-6809-01 COSM5105830 c.1885delT p.H632fs*8 Deletion - Frameshift 8:123128281-123128281 + BHY COSM1581939 c.2033A>G p.N678S Substitution - Missense 8:123128429-123128429 + SM-4B296 COSM4411875 c.864G>C p.M288I Substitution - Missense 8:123100839-123100839 + TCGA-14-0787-01 COSM3412735 c.715C>T p.H239Y Substitution - Missense 8:123097325-123097325 + DLBCL787 COSM1581938 c.1776C>T p.F592F Substitution - coding silent 8:123126579-123126579 + TCGA-FP-8631-01 COSM3896523 c.1638A>C p.E546D Substitution - Missense 8:123126123-123126123 + PD6730b COSM5791733 c.3112A>G p.N1038D Substitution - Missense 8:123151850-123151850 + ME009T COSM223306 c.245C>T p.T82I Substitution - Missense 8:123082722-123082722 + TCGA-AA-3712-01 COSM5105830 c.1885delT p.H632fs*8 Deletion - Frameshift 8:123128281-123128281 + TCGA-A6-5661-01 COSM5089186 c.2200C>T p.R734C Substitution - Missense 8:123129148-123129148 + TCGA-D1-A15Z-01 COSM1095691 c.547delA p.I183fs*40 Deletion - Frameshift 8:123093618-123093618 + LUAD-VUMN6 COSM348128 c.497G>T p.R166L Substitution - Missense 8:123084318-123084318 + SA075 COSM213366 c.88A>G p.N30D Substitution - Missense 8:123077121-123077121 + LUAD-YINHD COSM351719 c.2184G>C p.Q728H Substitution - Missense 8:123129132-123129132 + 3206A7_017_T COSM5043273 c.1986G>T p.M662I Substitution - Missense 8:123128382-123128382 + HCT8 COSM3166098 c.3104C>T p.T1035M Substitution - Missense 8:123151842-123151842 + TCGA-B5-A11E-01 COSM1095695 c.956G>A p.R319Q Substitution - Missense 8:123100931-123100931 + TCGA-WS-AB45-01 COSM5105830 c.1885delT p.H632fs*8 Deletion - Frameshift 8:123128281-123128281 + YUZINO COSM1700598 c.3068T>C p.I1023T Substitution - Missense 8:123151806-123151806 + RKO COSM4615003 c.298_299insT p.V101fs*5 Insertion - Frameshift 8:123082775-123082776 + TCGA-B1-A657-01 COSM4908134 c.2653A>T p.N885Y Substitution - Missense 8:123142274-123142274 + LIM1215 COSM4338674 c.1786delT p.S597fs*8 Deletion - Frameshift 8:123126589-123126589 + TCGA-CF-A1HR-01 COSM421753 c.313G>C p.D105H Substitution - Missense 8:123082790-123082790 + TCGA-EW-A1OY-01 COSM1488974 c.919G>T p.E307* Substitution - Nonsense 8:123100894-123100894 + TCGA-AD-6895-01 COSM5130039 c.2835+2_2835+3insA p.? Unknown 8:123142458-123142459 + TCGA-B5-A11G-01 COSM1095713 c.2387A>G p.D796G Substitution - Missense 8:123130314-123130314 + TCGA-DR-A0ZM-01 COSM461492 c.1931G>A p.R644K Substitution - Missense 8:123128327-123128327 + TCGA-ER-A19G-06 COSM3644754 c.1121G>A p.R374K Substitution - Missense 8:123105376-123105376 + TCGA-BR-6452-01 COSM3896526 c.2550A>G p.A850A Substitution - coding silent 8:123140811-123140811 + Pat_63_B COSM5873857 c.2279C>T p.A760V Substitution - Missense 8:123130206-123130206 + LUAD-B02216 COSM335739 c.398C>G p.S133C Substitution - Missense 8:123084219-123084219 + TCGA-NH-A5IV-01 COSM5184411 c.596C>T p.T199I Substitution - Missense 8:123093667-123093667 + TCGA-D1-A103-01 COSM1095693 c.717T>C p.H239H Substitution - coding silent 8:123097327-123097327 + TCGA-B5-A0JY-01 COSM1095687 c.379T>G p.S127A Substitution - Missense 8:123084200-123084200 + MO_1074 COSM5569029 c.3022A>G p.T1008A Substitution - Missense 8:123150083-123150083 + TCGA-AP-A056-01 COSM1095705 c.1497C>T p.L499L Substitution - coding silent 8:123120115-123120115 + SNUH_G16_S1 COSM3763031 c.1812G>A p.L604L Substitution - coding silent 8:123126615-123126615 + TCGA-AZ-4315-01 COSM1454622 c.2656T>G p.L886V Substitution - Missense 8:123142277-123142277 + MO_1263 COSM5552376 c.13G>T p.D5Y Substitution - Missense 8:123072782-123072782 + TCGA-G2-A3VY-01 COSM603931 c.805G>C p.D269H Substitution - Missense 8:123097415-123097415 + 587222 COSM1095689 c.392C>T p.S131L Substitution - Missense 8:123084213-123084213 + TCGA-DK-A3WW-01 COSM3778867 c.2459G>C p.R820T Substitution - Missense 8:123134166-123134166 + TCGA-B5-A11U-01 COSM1095709 c.1959G>A p.T653T Substitution - coding silent 8:123128355-123128355 + HN_62505 COSM130207 c.1324G>A p.E442K Substitution - Missense 8:123109508-123109508 + CHC1568T COSM5348728 c.3098_3099insAC p.D1033fs*12 Insertion - Frameshift 8:123151836-123151837 + 523T COSM3166100 c.3163C>T p.R1055C Substitution - Missense 8:123151901-123151901 + TCGA-GM-A2D9-01 COSM3644754 c.1121G>A p.R374K Substitution - Missense 8:123105376-123105376 + Pat_70_B COSM5083694 c.1885-1_1885insT p.H632fs*5 Unknown 8:123128280-123128281 + TCGA-FS-A1ZP-06 COSM3644755 c.1702C>A p.Q568K Substitution - Missense 8:123126187-123126187 + C113 COSM4441283 c.508G>A p.G170S Substitution - Missense 8:123084329-123084329 + TCGA-39-5031-01 COSM749506 c.1488T>A p.Y496* Substitution - Nonsense 8:123120106-123120106 + 10 COSM327547 c.1253T>G p.L418* Substitution - Nonsense 8:123109360-123109360 + TCGA-AY-6197-01 COSM1454623 c.3164G>A p.R1055H Substitution - Missense 8:123151902-123151902 + TCGA-P4-A5EA-01 COSM3995845 c.265C>A p.L89M Substitution - Missense 8:123082742-123082742 + TCGA-AG-3906-01 COSM5069918 c.2957delA p.N987fs*25 Deletion - Frameshift 8:123144838-123144838 + TCGA-AP-A059-01 COSM1095717 c.2486G>A p.R829K Substitution - Missense 8:123134193-123134193 + TCGA-AG-A002-01 COSM264694 c.2501A>T p.N834I Substitution - Missense 8:123140762-123140762 + sysucc-311T COSM5467330 c.1289+4C>T p.? Unknown 8:123109400-123109400 + TCGA-EE-A3JD-06 COSM4397091 c.525C>T p.F175F Substitution - coding silent 8:123093596-123093596 + TCGA-CG-5721-01 COSM3896527 c.3151A>G p.T1051A Substitution - Missense 8:123151889-123151889 + CCK81 COSM3166099 c.3133A>C p.N1045H Substitution - Missense 8:123151871-123151871 + TCGA-AA-3854-01 COSM5113616 c.2307A>T p.E769D Substitution - Missense 8:123130234-123130234 + ESCC_BICR_010T COSM5436053 c.1882G>C p.E628Q Substitution - Missense 8:123126685-123126685 + Pat_41_B COSM5873856 c.965C>T p.A322V Substitution - Missense 8:123100940-123100940 + CHC205T COSM4407377 c.341-3C>G p.? Unknown 8:123084159-123084159 + TCGA-AA-A010-01 COSM286516 c.3115C>A p.L1039I Substitution - Missense 8:123151853-123151853 + LUAD-RT-S01702 COSM379461 c.463G>A p.D155N Substitution - Missense 8:123084284-123084284 + S02243 COSM5677950 c.1366C>G p.H456D Substitution - Missense 8:123109550-123109550 + TCGA-CG-5721-01 COSM3896524 c.1907A>G p.N636S Substitution - Missense 8:123128303-123128303 + TCGA-AA-3672-01 COSM5083694 c.1885-1_1885insT p.H632fs*5 Unknown 8:123128280-123128281 + TCGA-DU-7306-01 COSM3929361 c.1101G>T p.K367N Substitution - Missense 8:123105356-123105356 + TCGA-AA-3875-01 COSM296439 c.1338G>T p.A446A Substitution - coding silent 8:123109522-123109522 + M031 COSM1739422 c.2213A>T p.E738V Substitution - Missense 8:123129161-123129161 + CSCC-27-T COSM3644752 c.280C>T p.R94C Substitution - Missense 8:123082757-123082757 + TCGA-EE-A20C-06 COSM1581938 c.1776C>T p.F592F Substitution - coding silent 8:123126579-123126579 + HCC105 COSM3663540 c.1416G>A p.K472K Substitution - coding silent 8:123109600-123109600 + 0061_CRUK_PC_0061_T1_DNA COSM5423931 c.721T>C p.W241R Substitution - Missense 8:123097331-123097331 + TCGA-B4-5377-01 COSM486034 c.1053A>G p.K351K Substitution - coding silent 8:123105308-123105308 + TCGA-CA-6717-01 COSM1454619 c.1555A>T p.I519F Substitution - Missense 8:123120173-123120173 + T1154 COSM4741056 c.2413A>G p.M805V Substitution - Missense 8:123134120-123134120 + TCGA-AD-6895-01 COSM5130731 c.1893T>C p.F631F Substitution - coding silent 8:123128289-123128289 + 2492722 COSM5723952 c.2271-2A>G p.? Unknown 8:123130196-123130196 + CHC205T COSM3669803 c.1265A>T p.Y422F Substitution - Missense 8:123109372-123109372 + pfg127T COSM4760948 c.412G>T p.G138W Substitution - Missense 8:123084233-123084233 + 2492721 COSM5723952 c.2271-2A>G p.? Unknown 8:123130196-123130196 + 523LT COSM3166100 c.3163C>T p.R1055C Substitution - Missense 8:123151901-123151901 + TCGA-DI-A0WH-01 COSM1095719 c.3111G>T p.Q1037H Substitution - Missense 8:123151849-123151849 + TCGA-F5-6814-01 COSM3432089 c.1706T>G p.L569R Substitution - Missense 8:123126509-123126509 + TCGA-BR-A4J7-01 COSM3896518 c.422C>T p.A141V Substitution - Missense 8:123084243-123084243 + TCGA-A5-A0GP-01 COSM1095701 c.1240C>T p.R414C Substitution - Missense 8:123109347-123109347 + ESCC_BICR_047T COSM5430470 c.2076A>T p.R692R Substitution - coding silent 8:123128472-123128472 + DLBCL793 COSM1581939 c.2033A>G p.N678S Substitution - Missense 8:123128429-123128429 + LIM2099 COSM4613202 c.1605delT p.N536fs*9 Deletion - Frameshift 8:123126090-123126090 + TCGA-34-5928-01 COSM749501 c.2424A>T p.R808R Substitution - coding silent 8:123134131-123134131 + TCGA-F4-6808-01 COSM5083694 c.1885-1_1885insT p.H632fs*5 Unknown 8:123128280-123128281 + TCGA-BR-4370-01 COSM3896525 c.1983C>T p.S661S Substitution - coding silent 8:123128379-123128379 + CCRF-CEM COSM1674146 c.2737C>T p.R913* Substitution - Nonsense 8:123142358-123142358 + HCT15 COSM3166098 c.3104C>T p.T1035M Substitution - Missense 8:123151842-123151842 + PD6719a COSM5778729 c.2088G>T p.R696S Substitution - Missense 8:123128484-123128484 + 2492701 COSM5600857 c.775C>T p.R259* Substitution - Nonsense 8:123097385-123097385 + TCGA-AM-5821-01 COSM3763031 c.1812G>A p.L604L Substitution - coding silent 8:123126615-123126615 + TCGA-61-2611-02 COSM1330333 c.3067A>T p.I1023F Substitution - Missense 8:123150128-123150128 + TCGA-A8-A08Z-01 COSM453947 c.1539C>T p.L513L Substitution - coding silent 8:123120157-123120157 + LUAD-5V8LT COSM403048 c.791T>A p.L264Q Substitution - Missense 8:123097401-123097401 + TCGA-HU-A4GT-01 COSM3896517 c.140A>C p.N47T Substitution - Missense 8:123077173-123077173 + 234 COSM3731027 c.502T>G p.S168A Substitution - Missense 8:123084323-123084323 + AOCS-105-1-9 COSM4150502 c.2835+1G>A p.? Unknown 8:123142457-123142457 + S02209 COSM5675441 c.244A>G p.T82A Substitution - Missense 8:123082721-123082721 + TCGA-DM-A0XF-01 COSM5105830 c.1885delT p.H632fs*8 Deletion - Frameshift 8:123128281-123128281 + TCGA-18-3410-01 COSM749502 c.2423G>T p.R808L Substitution - Missense 8:123134130-123134130 + 66 COSM4778027 c.2504T>C p.L835P Substitution - Missense 8:123140765-123140765 + PT13 COSM5895975 c.572C>T p.S191F Substitution - Missense 8:123093643-123093643 + SNU-175 COSM3166075 c.1806C>A p.F602L Substitution - Missense 8:123126609-123126609 + TCGA-AA-3510-01 COSM5100165 c.2641-7T>G p.? Unknown 8:123142255-123142255 + LUAD-RT-S01831 COSM384532 c.2641-2A>T p.? Unknown 8:123142260-123142260 + SC_9071 COSM5568638 c.2148C>T p.V716V Substitution - coding silent 8:123129096-123129096 + 3_PRE-TREATMENT COSM1723769 c.2472C>T p.L824L Substitution - coding silent 8:123134179-123134179 + SW1116 COSM3166089 c.2581G>A p.E861K Substitution - Missense 8:123140842-123140842 + PT48 COSM5932325 c.983G>A p.G328E Substitution - Missense 8:123100958-123100958 + T3535 COSM4741055 c.2117G>T p.R706M Substitution - Missense 8:123128513-123128513 + H650 COSM1194656 c.163G>T p.D55Y Substitution - Missense 8:123077196-123077196 + 587376 COSM1197560 c.1912G>A p.D638N Substitution - Missense 8:123128308-123128308 + HCC105T COSM3663540 c.1416G>A p.K472K Substitution - coding silent 8:123109600-123109600 + DLBCL773 COSM1581940 c.3139C>T p.R1047C Substitution - Missense 8:123151877-123151877 + ZZUFHECRKL-G034T COSM5440299 c.2842G>T p.E948* Substitution - Nonsense 8:123144723-123144723 + TCGA-AP-A051-01 COSM1095703 c.1448C>T p.A483V Substitution - Missense 8:123120066-123120066 + SW403 COSM4365112 c.3158G>A p.R1053Q Substitution - Missense 8:123151896-123151896 + TCGA-EE-A29E-06 COSM3644756 c.1900C>T p.R634W Substitution - Missense 8:123128296-123128296 + 587386 COSM1232644 c.2525T>A p.L842H Substitution - Missense 8:123140786-123140786 + LUAD-YINHD COSM351718 c.2111G>C p.R704T Substitution - Missense 8:123128507-123128507 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.492716 8q24.13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q294P c.881A>C 8 124113096 LUAD A - Frameshift p.I183Sfs*40 c.547delA 8 124105858 UCEC A G IntronicSNV . c.1033-1219A>G 8 124116309 HC A G IntronicSNV . c.3068-464A>G 8 124163582 CLL A G Missense p.D285G c.854A>G 8 124113069 GBM A G Missense p.D796G c.2387A>G 8 124142554 UCEC A G Missense p.N30D c.88A>G 8 124089361 BRCA A G Missense p.Q205R c.614A>G 8 124105925 BRCA A G Missense p.R970G c.2908A>G 8 124157029 LUSC A T Synonymous p.R808R c.2424A>T 8 124146371 LUSC C A Missense p.Q568K c.1702C>A 8 124138427 CM C A Missense p.Q679K c.2035C>A 8 124140671 HNSC C G Missense p.L366V c.1096C>G 8 124117591 HNSC C G Missense p.Q690E c.2068C>G 8 124140704 LUAD C T IntronicSNV . c.225-118C>T 8 124094824 CM C T IntronicSNV . c.225-60C>T 8 124094882 CM C T IntronicSNV . c.341-102C>T 8 124096300 CM C T Missense p.H239Y c.715C>T 8 124109565 GBM C T Missense p.L497F c.1489C>T 8 124132347 LUSC C T Missense p.P675L c.2024C>T 8 124140660 LUAD C T Missense p.R414C c.1240C>T 8 124121587 UCEC C T Missense p.S323F c.968C>T 8 124113183 CM C T Missense p.T82I c.245C>T 8 124094962 CM C T Nonsense p.R692* c.2074C>T 8 124140710 UCEC C T Synonymous p.F175F c.525C>T 8 124105836 CM C T Synonymous p.F592F c.1776C>T 8 124138819 CM C T Synonymous p.F76F c.228C>T 8 124094945 BRCA C T Synonymous p.I514I c.1542C>T 8 124132400 BRCA C T Synonymous p.I514I c.1542C>T 8 124132400 LUAD C T Synonymous p.L513L c.1539C>T 8 124132397 BRCA C T Synonymous p.S191S c.573C>T 8 124105884 CM C T Synonymous p.S661S c.1983C>T 8 124140619 STAD CTT - InFrameDeletion p.S146delS c.436_438delTCT 8 124096492 BRCA G A Missense p.A811T c.2431G>A 8 124146378 LUAD G A Missense p.E442K c.1324G>A 8 124121748 HNSC G A Missense p.M650I c.1950G>A 8 124140586 CM G A Missense p.R374K c.1121G>A 8 124117616 CM G A Missense p.R734H c.2201G>A 8 124141389 BRCA G A Missense p.R955H c.2864G>A 8 124156985 HNSC G A Missense p.V607I c.1819G>A 8 124138862 LUAD G A Synonymous p.K344K c.1032G>A 8 124113247 CM G A Synonymous p.Q1022Q c.3066G>A 8 124162367 BRCA G A Synonymous p.T653T c.1959G>A 8 124140595 UCEC GC - IntronicDeletion . c.77+192_77+193delCG 8 124085277 CLL G C Missense p.D105H c.313G>C 8 124095030 BLCA G C Missense p.D269H c.805G>C 8 124109655 LUAD G C Missense p.E517Q c.1549G>C 8 124132407 LUAD G C Missense p.E581Q c.1741G>C 8 124138784 HNSC G C Missense p.L46F c.138G>C 8 124089411 LUAD G C Missense p.R250T c.749G>C 8 124109599 HNSC G T Missense p.K367N c.1101G>T 8 124117596 LGG G T Missense p.R808L c.2423G>T 8 124146370 LUSC G T Missense p.R913L c.2738G>T 8 124154599 CM G T Missense p.R925M c.2774G>T 8 124154635 BRCA G T Nonsense p.E307* c.919G>T 8 124113134 BRCA G T Nonsense p.E977* c.2929G>T 8 124157050 LUSC G T Synonymous p.A446A c.1338G>T 8 124121762 COREAD T A Missense p.C527S c.1579T>A 8 124138304 RCCC T A Missense p.S488T c.1462T>A 8 124132320 LUSC T A Nonsense p.Y496* c.1488T>A 8 124132346 LUSC T C Missense p.L703S c.2108T>C 8 124140744 LUSC - T Frameshift p.H632Sfs*5 c.1893dupT 8 124140521 GBM T G Missense p.F76V c.226T>G 8 124094943 STAD