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 7 11022349 11022349 + Missense_Mutation SNP A A G TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr7:11022349A>G c.463A>G c.(463-465)Aca>Gca p.T155A BLCA 7 11053504 11053504 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr7:11053504T>C c.1176T>C c.(1174-1176)gaT>gaC p.D392D BLCA 7 11076172 11076172 + Missense_Mutation SNP G G A TCGA-FD-A3N6-01A-11D-A21A-08 TCGA-FD-A3N6-10A-01D-A21A-08 g.chr7:11076172G>A c.1730G>A c.(1729-1731)cGt>cAt p.R577H BLCA 7 11078469 11078469 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 g.chr7:11078469G>A c.2063G>A c.(2062-2064)aGa>aAa p.R688K BLCA 7 11091393 11091393 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr7:11091393C>T c.2467C>T c.(2467-2469)Ccg>Tcg p.P823S BLCA 7 11101608 11101608 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 g.chr7:11101608G>A c.2550G>A c.(2548-2550)gaG>gaA p.E850E BRCA 7 11022484 11022484 + Silent SNP C C T TCGA-D8-A13Y-01A-11D-A10Y-09 TCGA-D8-A13Y-10A-01D-A110-09 g.chr7:11022484C>T c.598C>T c.(598-600)Ctg>Ttg p.L200L BRCA 7 11022504 11022504 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr7:11022504T>C c.618T>C c.(616-618)taT>taC p.Y206Y BRCA 7 11030350 11030350 + Missense_Mutation SNP G G C TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 g.chr7:11030350G>C c.921G>C c.(919-921)aaG>aaC p.K307N BRCA 7 11075296 11075296 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr7:11075296T>C c.1485T>C c.(1483-1485)tgT>tgC p.C495C BRCA 7 11078433 11078433 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:11078433G>A c.2027G>A c.(2026-2028)cGa>cAa p.R676Q BRCA 7 11091322 11091322 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr7:11091322G>A c.2396G>A c.(2395-2397)cGa>cAa p.R799Q CESC 7 11053396 11053396 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr7:11053396G>A c.1068G>A c.(1066-1068)gaG>gaA p.E356E CESC 7 11101423 11101423 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr7:11101423C>T c.2487C>T c.(2485-2487)acC>acT p.T829T COAD 7 11022157 11022157 + Missense_Mutation SNP T T C TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr7:11022157T>C c.271T>C c.(271-273)Tca>Cca p.S91P COAD 7 11022178 11022178 + Nonsense_Mutation SNP A A T TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr7:11022178A>T c.292A>T c.(292-294)Aaa>Taa p.K98* COAD 7 11022530 11022530 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:11022530G>A c.644G>A c.(643-645)cGa>cAa p.R215Q COAD 7 11022763 11022763 + Missense_Mutation SNP C C A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:11022763C>A c.877C>A c.(877-879)Cta>Ata p.L293I COAD 7 11030370 11030370 + Frame_Shift_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr7:11030370delA c.941delA c.(940-942)caafs p.Q314fs COAD 7 11053482 11053482 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:11053482G>A c.1154G>A c.(1153-1155)tGt>tAt p.C385Y COAD 7 11068366 11068366 + Missense_Mutation SNP A A T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:11068366A>T c.1376A>T c.(1375-1377)gAt>gTt p.D459V COAD 7 11068417 11068417 + Missense_Mutation SNP G G C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:11068417G>C c.1427G>C c.(1426-1428)gGt>gCt p.G476A COAD 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:11075380_11075381delAG c.1569_1570delAG c.(1567-1572)caagagfs p.E524fs COAD 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr7:11075380_11075381delAG c.1569_1570delAG c.(1567-1572)caagagfs p.E524fs COAD 7 11076130 11076130 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:11076130A>G c.1688A>G c.(1687-1689)gAa>gGa p.E563G COAD 7 11076134 11076134 + Missense_Mutation SNP A A T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr7:11076134A>T c.1692A>T c.(1690-1692)aaA>aaT p.K564N COAD 7 11076685 11076685 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:11076685T>C c.1947T>C c.(1945-1947)aaT>aaC p.N649N COAD 7 11076699 11076699 + Missense_Mutation SNP T T C TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr7:11076699T>C c.1961T>C c.(1960-1962)cTt>cCt p.L654P COAD 7 11076699 11076699 + Missense_Mutation SNP T T C TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr7:11076699T>C c.1961T>C c.(1960-1962)cTt>cCt p.L654P COAD 7 11076700 11076700 + Silent SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr7:11076700T>C c.1962T>C c.(1960-1962)ctT>ctC p.L654L COAD 7 11076700 11076700 + Silent SNP T T C TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr7:11076700T>C c.1962T>C c.(1960-1962)ctT>ctC p.L654L COAD 7 11080331 11080331 + Silent SNP C C G TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr7:11080331C>G c.2109C>G c.(2107-2109)ccC>ccG p.P703P COADREAD 7 11022157 11022157 + Missense_Mutation SNP T T C TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr7:11022157T>C c.271T>C c.(271-273)Tca>Cca p.S91P COADREAD 7 11022178 11022178 + Nonsense_Mutation SNP A A T TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr7:11022178A>T c.292A>T c.(292-294)Aaa>Taa p.K98* COADREAD 7 11022332 11022332 + Missense_Mutation SNP C C G TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr7:11022332C>G c.446C>G c.(445-447)gCt>gGt p.A149G COADREAD 7 11022530 11022530 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:11022530G>A c.644G>A c.(643-645)cGa>cAa p.R215Q COADREAD 7 11022763 11022763 + Missense_Mutation SNP C C A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:11022763C>A c.877C>A c.(877-879)Cta>Ata p.L293I COADREAD 7 11030370 11030370 + Frame_Shift_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr7:11030370delA c.941delA c.(940-942)caafs p.Q314fs COADREAD 7 11030370 11030370 + Frame_Shift_Del DEL A A - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:11030370delA c.941delA c.(940-942)caafs p.Q314fs COADREAD 7 11053482 11053482 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:11053482G>A c.1154G>A c.(1153-1155)tGt>tAt p.C385Y COADREAD 7 11062550 11062550 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:11062550G>T c.1261G>T c.(1261-1263)Gac>Tac p.D421Y COADREAD 7 11068366 11068366 + Missense_Mutation SNP A A T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr7:11068366A>T c.1376A>T c.(1375-1377)gAt>gTt p.D459V COADREAD 7 11068417 11068417 + Missense_Mutation SNP G G C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr7:11068417G>C c.1427G>C c.(1426-1428)gGt>gCt p.G476A COADREAD 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:11075380_11075381delAG c.1569_1570delAG c.(1567-1572)caagagfs p.E524fs COADREAD 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr7:11075380_11075381delAG c.1569_1570delAG c.(1567-1572)caagagfs p.E524fs COADREAD 7 11076130 11076130 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:11076130A>G c.1688A>G c.(1687-1689)gAa>gGa p.E563G COADREAD 7 11076134 11076134 + Missense_Mutation SNP A A T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr7:11076134A>T c.1692A>T c.(1690-1692)aaA>aaT p.K564N COADREAD 7 11076685 11076685 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:11076685T>C c.1947T>C c.(1945-1947)aaT>aaC p.N649N COADREAD 7 11076698 11076698 + Missense_Mutation SNP C C T TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr7:11076698C>T c.1960C>T c.(1960-1962)Ctt>Ttt p.L654F COADREAD 7 11076699 11076699 + Missense_Mutation SNP T T C TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr7:11076699T>C c.1961T>C c.(1960-1962)cTt>cCt p.L654P COADREAD 7 11076699 11076699 + Missense_Mutation SNP T T C TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr7:11076699T>C c.1961T>C c.(1960-1962)cTt>cCt p.L654P COADREAD 7 11076700 11076700 + Silent SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr7:11076700T>C c.1962T>C c.(1960-1962)ctT>ctC p.L654L COADREAD 7 11076700 11076700 + Silent SNP T T C TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr7:11076700T>C c.1962T>C c.(1960-1962)ctT>ctC p.L654L COADREAD 7 11080331 11080331 + Silent SNP C C G TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr7:11080331C>G c.2109C>G c.(2107-2109)ccC>ccG p.P703P COADREAD 7 11101436 11101436 + Nonsense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:11101436C>T c.2500C>T c.(2500-2502)Cga>Tga p.R834* DLBC 7 11091329 11091330 + Frame_Shift_Ins INS - - A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr7:11091329_11091330insA c.2403_2404insA c.(2404-2406)aggfs p.R802fs ESCA 7 11022380 11022380 + Missense_Mutation SNP C C T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr7:11022380C>T c.494C>T c.(493-495)tCt>tTt p.S165F ESCA 7 11030418 11030418 + Missense_Mutation SNP G G A TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr7:11030418G>A c.989G>A c.(988-990)aGt>aAt p.S330N ESCA 7 11068417 11068417 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr7:11068417G>T c.1427G>T c.(1426-1428)gGt>gTt p.G476V ESCA 7 11068427 11068427 + Silent SNP A A G TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr7:11068427A>G c.1437A>G c.(1435-1437)tcA>tcG p.S479S GBMLGG 7 11075411 11075411 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:11075411C>T c.1600C>T c.(1600-1602)Cag>Tag p.Q534* GBMLGG 7 11076172 11076172 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:11076172G>A c.1730G>A c.(1729-1731)cGt>cAt p.R577H GBMLGG 7 11091395 11091395 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:11091395G>A c.2469G>A c.(2467-2469)ccG>ccA p.P823P HNSC 7 11053505 11053505 + Missense_Mutation SNP G G C TCGA-UF-A7JF-01A-11D-A34J-08 TCGA-UF-A7JF-10A-01D-A34M-08 g.chr7:11053505G>C c.1177G>C c.(1177-1179)Gga>Cga p.G393R HNSC 7 11068350 11068350 + Missense_Mutation SNP G G T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr7:11068350G>T c.1360G>T c.(1360-1362)Gtt>Ttt p.V454F HNSC 7 11091372 11091372 + Missense_Mutation SNP C C T TCGA-UP-A6WW-01A-12D-A34J-08 TCGA-UP-A6WW-10B-01D-A34M-08 g.chr7:11091372C>T c.2446C>T c.(2446-2448)Cca>Tca p.P816S HNSC 7 11091407 11091407 + Splice_Site SNP G G A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr7:11091407G>A c.2481G>A c.(2479-2481)acG>acA p.T827T KIPAN 7 11076624 11076624 + Missense_Mutation SNP G G C TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr7:11076624G>C c.1886G>C c.(1885-1887)cGc>cCc p.R629P KIPAN 7 11078422 11078422 + Missense_Mutation SNP T T G TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr7:11078422T>G c.2016T>G c.(2014-2016)aaT>aaG p.N672K KIRC 7 11076624 11076624 + Missense_Mutation SNP G G C TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr7:11076624G>C c.1886G>C c.(1885-1887)cGc>cCc p.R629P KIRC 7 11078422 11078422 + Missense_Mutation SNP T T G TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr7:11078422T>G c.2016T>G c.(2014-2016)aaT>aaG p.N672K LGG 7 11075411 11075411 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:11075411C>T c.1600C>T c.(1600-1602)Cag>Tag p.Q534* LGG 7 11076172 11076172 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:11076172G>A c.1730G>A c.(1729-1731)cGt>cAt p.R577H LGG 7 11091395 11091395 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:11091395G>A c.2469G>A c.(2467-2469)ccG>ccA p.P823P LIHC 7 11030469 11030469 + Missense_Mutation SNP A A G TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr7:11030469A>G c.1040A>G c.(1039-1041)cAt>cGt p.H347R LIHC 7 11076165 11076165 + Frame_Shift_Del DEL G G - TCGA-CC-A8HT-01A-11D-A35Z-10 TCGA-CC-A8HT-10A-01D-A35Z-10 g.chr7:11076165delG c.1723delG c.(1723-1725)gctfs p.A575fs LIHC 7 11080358 11080358 + Missense_Mutation SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr7:11080358A>T c.2136A>T c.(2134-2136)gaA>gaT p.E712D LIHC 7 11082380 11082380 + Missense_Mutation SNP C C G TCGA-G3-AAV6-01A-21D-A36X-10 TCGA-G3-AAV6-10A-01D-A370-10 g.chr7:11082380C>G c.2251C>G c.(2251-2253)Cat>Gat p.H751D LUAD 7 11022088 11022088 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-11A-01D-1553-08 g.chr7:11022088G>T c.202G>T c.(202-204)Gaa>Taa p.E68* LUAD 7 11022100 11022100 + Missense_Mutation SNP G G A TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr7:11022100G>A c.214G>A c.(214-216)Gaa>Aaa p.E72K LUAD 7 11022137 11022137 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr7:11022137C>T c.251C>T c.(250-252)tCt>tTt p.S84F LUAD 7 11022326 11022326 + Missense_Mutation SNP C C T TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr7:11022326C>T c.440C>T c.(439-441)tCt>tTt p.S147F LUAD 7 11022676 11022676 + Missense_Mutation SNP A A T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr7:11022676A>T c.790A>T c.(790-792)Agt>Tgt p.S264C LUAD 7 11022706 11022706 + Nonsense_Mutation SNP A A T TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr7:11022706A>T c.820A>T c.(820-822)Aaa>Taa p.K274* LUAD 7 11022739 11022739 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr7:11022739G>T c.853G>T c.(853-855)Gaa>Taa p.E285* LUAD 7 11022782 11022782 + Missense_Mutation SNP A A T TCGA-44-A47F-01A-11D-A24D-08 TCGA-44-A47F-10A-01D-A24F-08 g.chr7:11022782A>T c.896A>T c.(895-897)aAt>aTt p.N299I LUAD 7 11068308 11068308 + Splice_Site SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr7:11068308G>C c.1318G>C c.(1318-1320)Gag>Cag p.E440Q LUAD 7 11068308 11068308 + Splice_Site SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr7:11068308G>T c.1318G>T c.(1318-1320)Gag>Tag p.E440* LUAD 7 11068332 11068332 + Missense_Mutation SNP C C T TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr7:11068332C>T c.1342C>T c.(1342-1344)Cgc>Tgc p.R448C LUAD 7 11068427 11068427 + Silent SNP A A T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr7:11068427A>T c.1437A>T c.(1435-1437)tcA>tcT p.S479S LUAD 7 11068443 11068443 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr7:11068443G>C c.1453G>C c.(1453-1455)Gag>Cag p.E485Q LUAD 7 11076118 11076118 + Frame_Shift_Del DEL G G - TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr7:11076118delG c.1676delG c.(1675-1677)tggfs p.W559fs LUAD 7 11076235 11076235 + Missense_Mutation SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr7:11076235C>T c.1793C>T c.(1792-1794)tCa>tTa p.S598L LUAD 7 11082342 11082342 + Frame_Shift_Del DEL A A - TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 g.chr7:11082342delA c.2213delA c.(2212-2214)catfs p.H738fs LUAD 7 11091334 11091334 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr7:11091334A>G c.2408A>G c.(2407-2409)cAg>cGg p.Q803R LUAD 7 11091357 11091357 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr7:11091357G>T c.2431G>T c.(2431-2433)Gtt>Ttt p.V811F LUSC 7 11022091 11022091 + Nonsense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr7:11022091G>T c.205G>T c.(205-207)Gaa>Taa p.E69* LUSC 7 11075331 11075331 + Missense_Mutation SNP A A G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr7:11075331A>G c.1520A>G c.(1519-1521)aAg>aGg p.K507R LUSC 7 11078410 11078410 + Silent SNP A A G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr7:11078410A>G c.2004A>G c.(2002-2004)ctA>ctG p.L668L LUSC 7 11078436 11078436 + Missense_Mutation SNP G G A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr7:11078436G>A c.2030G>A c.(2029-2031)aGt>aAt p.S677N OV 7 11022425 11022425 + Missense_Mutation SNP C C T TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr7:11022425C>T c.539C>T c.(538-540)cCa>cTa p.P180L PAAD 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:11075380_11075381delAG c.1569_1570delAG c.(1567-1572)caagagfs p.E524fs PAAD 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chr7:11075380_11075381delAG c.1569_1570delAG c.(1567-1572)caagagfs p.E524fs PAAD 7 11075380 11075381 + Frame_Shift_Del DEL AG AG - TCGA-LB-A8F3-01A-11D-A36O-08 TCGA-LB-A8F3-10A-01D-A367-08 g.chr7:11075380_11075381delAG c.1569_1570delAG c.(1567-1572)caagagfs p.E524fs PRAD 7 11030335 11030335 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:11030335G>A c.906G>A c.(904-906)tcG>tcA p.S302S PRAD 7 11075358 11075358 + Missense_Mutation SNP C C T TCGA-KK-A7B1-01A-11D-A32B-08 TCGA-KK-A7B1-11A-12D-A329-08 g.chr7:11075358C>T c.1547C>T c.(1546-1548)tCc>tTc p.S516F READ 7 11022332 11022332 + Missense_Mutation SNP C C G TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr7:11022332C>G c.446C>G c.(445-447)gCt>gGt p.A149G READ 7 11030370 11030370 + Frame_Shift_Del DEL A A - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:11030370delA c.941delA c.(940-942)caafs p.Q314fs READ 7 11062550 11062550 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:11062550G>T c.1261G>T c.(1261-1263)Gac>Tac p.D421Y READ 7 11076698 11076698 + Missense_Mutation SNP C C T TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr7:11076698C>T c.1960C>T c.(1960-1962)Ctt>Ttt p.L654F READ 7 11101436 11101436 + Nonsense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:11101436C>T c.2500C>T c.(2500-2502)Cga>Tga p.R834* SKCM 7 11022442 11022442 + Nonsense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr7:11022442C>T c.556C>T c.(556-558)Cga>Tga p.R186* SKCM 7 11022696 11022696 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr7:11022696G>A c.810G>A c.(808-810)aaG>aaA p.K270K SKCM 7 11053476 11053476 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:11053476C>T c.1148C>T c.(1147-1149)cCt>cTt p.P383L SKCM 7 11068332 11068332 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:11068332C>T c.1342C>T c.(1342-1344)Cgc>Tgc p.R448C SKCM 7 11076096 11076096 + Nonsense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:11076096C>T c.1654C>T c.(1654-1656)Cga>Tga p.R552* SKCM 7 11076096 11076096 + Nonsense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr7:11076096C>T c.1654C>T c.(1654-1656)Cga>Tga p.R552* SKCM 7 11076123 11076123 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:11076123C>T c.1681C>T c.(1681-1683)Cca>Tca p.P561S SKCM 7 11076171 11076171 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr7:11076171C>T c.1729C>T c.(1729-1731)Cgt>Tgt p.R577C SKCM 7 11076223 11076223 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr7:11076223C>T c.1781C>T c.(1780-1782)cCa>cTa p.P594L SKCM 7 11076227 11076227 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr7:11076227G>A c.1785G>A c.(1783-1785)gtG>gtA p.V595V SKCM 7 11101640 11101640 + Missense_Mutation SNP A A G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr7:11101640A>G c.2582A>G c.(2581-2583)aAg>aGg p.K861R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 7 11088610 11088610 single base substitution G T intron_variant BRCA-EU 7 11011679 11011679 single base substitution C T upstream_gene_variant BRCA-EU 7 11012651 11012651 single base substitution C G upstream_gene_variant BRCA-EU 7 11012652 11012656 multiple base substitution (>=2bp and <=200bp) TTCCT TGA upstream_gene_variant BRCA-EU 7 11012655 11012655 single base substitution C G upstream_gene_variant BRCA-EU 7 11012656 11012656 single base substitution T A upstream_gene_variant BRCA-EU 7 11014350 11014353 deletion of <=200bp AGTT - intron_variant BRCA-EU 7 11014509 11014509 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 11014509 11014509 single base substitution C G exon_variant BRCA-EU 7 11014509 11014509 single base substitution C G missense_variant L17V 49C>G BRCA-EU 7 11015275 11015275 single base substitution A T intron_variant BRCA-EU 7 11015853 11015853 single base substitution G A intron_variant BRCA-EU 7 11018128 11018128 deletion of <=200bp T - intron_variant BRCA-EU 7 11018672 11018672 single base substitution A T intron_variant BRCA-EU 7 11019084 11019084 single base substitution C G intron_variant BRCA-EU 7 11020614 11020614 single base substitution G T intron_variant BRCA-EU 7 11021196 11021196 single base substitution C A intron_variant BRCA-EU 7 11021722 11021722 single base substitution A G intron_variant BRCA-EU 7 11023922 11023922 single base substitution G C intron_variant BRCA-EU 7 11024531 11024531 single base substitution C T intron_variant BRCA-EU 7 11024630 11024630 single base substitution C G intron_variant BRCA-EU 7 11024667 11024667 single base substitution C G intron_variant BRCA-EU 7 11025306 11025306 single base substitution G A intron_variant BRCA-EU 7 11025331 11025331 single base substitution G C intron_variant BRCA-EU 7 11025414 11025414 single base substitution G C intron_variant BRCA-EU 7 11025606 11025606 deletion of <=200bp T - intron_variant BRCA-EU 7 11030350 11030350 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 11030350 11030350 single base substitution G C exon_variant BRCA-EU 7 11030350 11030350 single base substitution G C missense_variant K22N 66G>C BRCA-EU 7 11030350 11030350 single base substitution G C missense_variant K307N 921G>C BRCA-EU 7 11031773 11031773 single base substitution C T intron_variant BRCA-EU 7 11032556 11032556 insertion of <=200bp - T intron_variant BRCA-EU 7 11033593 11033593 single base substitution G A intron_variant BRCA-EU 7 11033635 11033635 single base substitution C T intron_variant BRCA-EU 7 11037612 11037612 single base substitution A T intron_variant BRCA-EU 7 11039530 11039533 deletion of <=200bp ATAA - intron_variant BRCA-EU 7 11039816 11039816 single base substitution A T intron_variant BRCA-EU 7 11040971 11040971 deletion of <=200bp T - intron_variant BRCA-EU 7 11043667 11043667 single base substitution G C intron_variant BRCA-EU 7 11044374 11044374 single base substitution A G intron_variant BRCA-EU 7 11044924 11044924 single base substitution T A intron_variant BRCA-EU 7 11046894 11046894 deletion of <=200bp T - intron_variant BRCA-EU 7 11049534 11049534 single base substitution T A intron_variant BRCA-EU 7 11049534 11049534 single base substitution T A upstream_gene_variant BRCA-EU 7 11052346 11052348 deletion of <=200bp CTC - intron_variant BRCA-EU 7 11052346 11052348 deletion of <=200bp CTC - upstream_gene_variant BRCA-EU 7 11052706 11052706 single base substitution T C intron_variant BRCA-EU 7 11052706 11052706 single base substitution T C upstream_gene_variant BRCA-EU 7 11053207 11053207 insertion of <=200bp - A intron_variant BRCA-EU 7 11053207 11053207 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 11053541 11053541 single base substitution T A intron_variant BRCA-EU 7 11053541 11053541 single base substitution T A splice_region_variant BRCA-EU 7 11054068 11054068 single base substitution C T intron_variant BRCA-EU 7 11054919 11054919 single base substitution A G downstream_gene_variant BRCA-EU 7 11054919 11054919 single base substitution A G intron_variant BRCA-EU 7 11054954 11054954 single base substitution C A downstream_gene_variant BRCA-EU 7 11054954 11054954 single base substitution C A intron_variant BRCA-EU 7 11058066 11058066 single base substitution A T downstream_gene_variant BRCA-EU 7 11058066 11058066 single base substitution A T intron_variant BRCA-EU 7 11058326 11058326 single base substitution G A downstream_gene_variant BRCA-EU 7 11058326 11058326 single base substitution G A intron_variant BRCA-EU 7 11058909 11058909 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 11058909 11058909 insertion of <=200bp - T intron_variant BRCA-EU 7 11059642 11059642 single base substitution A C downstream_gene_variant BRCA-EU 7 11059642 11059642 single base substitution A C intron_variant BRCA-EU 7 11060460 11060460 deletion of <=200bp T - intron_variant BRCA-EU 7 11060592 11060592 single base substitution G A intron_variant BRCA-EU 7 11061454 11061454 insertion of <=200bp - T intron_variant BRCA-EU 7 11061932 11061932 single base substitution C G intron_variant BRCA-EU 7 11062865 11062865 single base substitution A G intron_variant BRCA-EU 7 11063455 11063455 deletion of <=200bp A - intron_variant BRCA-EU 7 11063662 11063662 single base substitution T C intron_variant BRCA-EU 7 11063864 11063864 single base substitution G C intron_variant BRCA-EU 7 11063890 11063890 single base substitution T C intron_variant BRCA-EU 7 11066186 11066186 single base substitution A C intron_variant BRCA-EU 7 11066515 11066515 single base substitution C G intron_variant BRCA-EU 7 11068766 11068766 single base substitution G A downstream_gene_variant BRCA-EU 7 11068766 11068766 single base substitution G A intron_variant BRCA-EU 7 11071681 11071681 single base substitution G C downstream_gene_variant BRCA-EU 7 11071681 11071681 single base substitution G C intron_variant BRCA-EU 7 11071681 11071681 single base substitution G C upstream_gene_variant BRCA-EU 7 11073444 11073444 single base substitution C T intron_variant BRCA-EU 7 11073444 11073444 single base substitution C T upstream_gene_variant BRCA-EU 7 11073576 11073576 single base substitution C G intron_variant BRCA-EU 7 11073576 11073576 single base substitution C G upstream_gene_variant BRCA-EU 7 11073754 11073754 deletion of <=200bp T - intron_variant BRCA-EU 7 11073754 11073754 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 11075473 11075473 single base substitution G C intron_variant BRCA-EU 7 11075505 11075505 single base substitution T A intron_variant BRCA-EU 7 11076620 11076620 single base substitution A T 3_prime_UTR_variant BRCA-EU 7 11076620 11076620 single base substitution A T downstream_gene_variant BRCA-EU 7 11076620 11076620 single base substitution A T exon_variant BRCA-EU 7 11076620 11076620 single base substitution A T missense_variant M343L 1027A>T BRCA-EU 7 11076620 11076620 single base substitution A T missense_variant M628L 1882A>T BRCA-EU 7 11077852 11077852 single base substitution G A downstream_gene_variant BRCA-EU 7 11077852 11077852 single base substitution G A intron_variant BRCA-EU 7 11077852 11077852 single base substitution G A upstream_gene_variant BRCA-EU 7 11078409 11078409 single base substitution T A 3_prime_UTR_variant BRCA-EU 7 11078409 11078409 single base substitution T A downstream_gene_variant BRCA-EU 7 11078409 11078409 single base substitution T A exon_variant BRCA-EU 7 11078409 11078409 single base substitution T A missense_variant L383Q 1148T>A BRCA-EU 7 11078409 11078409 single base substitution T A missense_variant L668Q 2003T>A BRCA-EU 7 11078409 11078409 single base substitution T A upstream_gene_variant BRCA-EU 7 11079037 11079038 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 7 11079037 11079038 deletion of <=200bp TT - intron_variant BRCA-EU 7 11079037 11079038 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 7 11079494 11079494 single base substitution T G downstream_gene_variant BRCA-EU 7 11079494 11079494 single base substitution T G intron_variant BRCA-EU 7 11079494 11079494 single base substitution T G upstream_gene_variant BRCA-EU 7 11081052 11081052 insertion of <=200bp - TG downstream_gene_variant BRCA-EU 7 11081052 11081052 insertion of <=200bp - TG intron_variant BRCA-EU 7 11081052 11081052 insertion of <=200bp - TG upstream_gene_variant BRCA-EU 7 11081052 11081053 deletion of <=200bp TG - downstream_gene_variant BRCA-EU 7 11081052 11081053 deletion of <=200bp TG - intron_variant BRCA-EU 7 11081052 11081053 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 7 11081052 11081055 deletion of <=200bp TGTG - downstream_gene_variant BRCA-EU 7 11081052 11081055 deletion of <=200bp TGTG - intron_variant BRCA-EU 7 11081052 11081055 deletion of <=200bp TGTG - upstream_gene_variant BRCA-EU 7 11082170 11082170 single base substitution G A intron_variant BRCA-EU 7 11082170 11082170 single base substitution G A upstream_gene_variant BRCA-EU 7 11082419 11082419 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 11082419 11082419 single base substitution A G exon_variant BRCA-EU 7 11082419 11082419 single base substitution A G missense_variant R479G 1435A>G BRCA-EU 7 11082419 11082419 single base substitution A G missense_variant R764G 2290A>G BRCA-EU 7 11083118 11083118 single base substitution C A intron_variant BRCA-EU 7 11083617 11083617 insertion of <=200bp - A intron_variant BRCA-EU 7 11083633 11083633 insertion of <=200bp - AA intron_variant BRCA-EU 7 11086125 11086125 single base substitution G T intron_variant BRCA-EU 7 11086165 11086165 deletion of <=200bp T - intron_variant BRCA-EU 7 11087296 11087296 single base substitution C T intron_variant BRCA-EU 7 11088386 11088386 single base substitution A G intron_variant BRCA-EU 7 11088826 11088826 single base substitution G C intron_variant BRCA-EU 7 11089598 11089598 single base substitution C T intron_variant BRCA-EU 7 11089740 11089740 single base substitution G C intron_variant BRCA-EU 7 11089756 11089756 single base substitution G T intron_variant BRCA-EU 7 11090479 11090479 single base substitution T C intron_variant BRCA-EU 7 11091309 11091309 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 11091309 11091309 single base substitution G A exon_variant BRCA-EU 7 11091309 11091309 single base substitution G A missense_variant D510N 1528G>A BRCA-EU 7 11091309 11091309 single base substitution G A missense_variant D795N 2383G>A BRCA-EU 7 11092099 11092099 single base substitution A G intron_variant BRCA-EU 7 11092171 11092171 single base substitution T C intron_variant BRCA-EU 7 11092311 11092311 single base substitution T G intron_variant BRCA-EU 7 11093744 11093745 deletion of <=200bp TT - intron_variant BRCA-EU 7 11093803 11093803 single base substitution A G intron_variant BRCA-EU 7 11093985 11093985 single base substitution T C intron_variant BRCA-EU 7 11093992 11093992 single base substitution G A intron_variant BRCA-EU 7 11094009 11094009 single base substitution C T intron_variant BRCA-EU 7 11094558 11094558 single base substitution T C intron_variant BRCA-EU 7 11094935 11094935 single base substitution C A intron_variant BRCA-EU 7 11095545 11095545 single base substitution T C intron_variant BRCA-EU 7 11096306 11096306 single base substitution C T intron_variant BRCA-EU 7 11096306 11096306 single base substitution C T upstream_gene_variant BRCA-EU 7 11096313 11096313 single base substitution G A intron_variant BRCA-EU 7 11096313 11096313 single base substitution G A upstream_gene_variant BRCA-EU 7 11096858 11096858 single base substitution C T intron_variant BRCA-EU 7 11096858 11096858 single base substitution C T upstream_gene_variant BRCA-EU 7 11096988 11096988 single base substitution A G intron_variant BRCA-EU 7 11096988 11096988 single base substitution A G upstream_gene_variant BRCA-EU 7 11097327 11097327 single base substitution C T intron_variant BRCA-EU 7 11097327 11097327 single base substitution C T upstream_gene_variant BRCA-EU 7 11097573 11097573 single base substitution T G intron_variant BRCA-EU 7 11097573 11097573 single base substitution T G upstream_gene_variant BRCA-EU 7 11097843 11097843 single base substitution A C intron_variant BRCA-EU 7 11097843 11097843 single base substitution A C upstream_gene_variant BRCA-EU 7 11098454 11098454 single base substitution G C intron_variant BRCA-EU 7 11098454 11098454 single base substitution G C upstream_gene_variant BRCA-EU 7 11098522 11098522 single base substitution T C intron_variant BRCA-EU 7 11098522 11098522 single base substitution T C upstream_gene_variant BRCA-EU 7 11098724 11098724 single base substitution G A intron_variant BRCA-EU 7 11098724 11098724 single base substitution G A upstream_gene_variant BRCA-EU 7 11098807 11098807 single base substitution G C intron_variant BRCA-EU 7 11098807 11098807 single base substitution G C upstream_gene_variant BRCA-EU 7 11101755 11101755 single base substitution C G exon_variant BRCA-EU 7 11101755 11101755 single base substitution C G intron_variant BRCA-EU 7 11103659 11103659 single base substitution G C downstream_gene_variant BRCA-EU 7 11103659 11103659 single base substitution G C intron_variant BRCA-EU 7 11106150 11106150 single base substitution C G downstream_gene_variant BRCA-EU 7 11106150 11106150 single base substitution C G intron_variant BRCA-EU 7 11106250 11106250 single base substitution G A downstream_gene_variant BRCA-EU 7 11106250 11106250 single base substitution G A intron_variant BRCA-EU 7 11107564 11107564 single base substitution G A downstream_gene_variant BRCA-EU 7 11107564 11107564 single base substitution G A intron_variant BRCA-EU 7 11108538 11108538 single base substitution A G intron_variant BRCA-EU 7 11109487 11109487 deletion of <=200bp A - intron_variant BRCA-EU 7 11110697 11110697 single base substitution A T intron_variant BRCA-EU 7 11112169 11112169 single base substitution A G intron_variant BRCA-EU 7 11115525 11115525 single base substitution G A intron_variant BRCA-EU 7 11115699 11115699 single base substitution G T intron_variant BRCA-EU 7 11116519 11116519 single base substitution T G intron_variant BRCA-EU 7 11116617 11116617 single base substitution G A intron_variant BRCA-EU 7 11117127 11117127 single base substitution C G intron_variant BRCA-EU 7 11118736 11118739 deletion of <=200bp CTAA - intron_variant BRCA-EU 7 11119822 11119822 single base substitution G C intron_variant BRCA-EU 7 11119869 11119869 single base substitution T C intron_variant BRCA-EU 7 11119900 11119900 insertion of <=200bp - A intron_variant BRCA-EU 7 11119961 11119961 single base substitution G T intron_variant BRCA-EU 7 11119996 11119996 deletion of <=200bp T - intron_variant BRCA-EU 7 11120773 11120773 single base substitution G C intron_variant BRCA-EU 7 11122719 11122719 single base substitution G C intron_variant BRCA-EU 7 11123004 11123004 single base substitution T G intron_variant BRCA-EU 7 11123018 11123018 single base substitution C T intron_variant BRCA-EU 7 11123032 11123032 single base substitution G A intron_variant BRCA-EU 7 11123532 11123532 single base substitution G A intron_variant BRCA-EU 7 11124018 11124018 single base substitution C T intron_variant BRCA-EU 7 11125463 11125463 single base substitution G A intron_variant BRCA-EU 7 11125652 11125652 single base substitution G A intron_variant BRCA-EU 7 11125778 11125778 single base substitution G C intron_variant BRCA-EU 7 11127860 11127860 single base substitution G T intron_variant BRCA-EU 7 11127874 11127874 deletion of <=200bp T - intron_variant BRCA-EU 7 11127882 11127882 single base substitution A T intron_variant BRCA-EU 7 11128724 11128724 single base substitution A T intron_variant BRCA-EU 7 11129431 11129431 single base substitution C G intron_variant BRCA-EU 7 11129810 11129810 single base substitution G C intron_variant BRCA-EU 7 11130463 11130463 single base substitution C T intron_variant BRCA-EU 7 11130772 11130772 single base substitution T C intron_variant BRCA-EU 7 11130946 11130946 single base substitution G T intron_variant BRCA-EU 7 11131565 11131565 single base substitution G A intron_variant BRCA-EU 7 11132059 11132059 single base substitution A G intron_variant BRCA-EU 7 11132532 11132532 deletion of <=200bp T - intron_variant BRCA-EU 7 11132851 11132851 single base substitution G A intron_variant BRCA-EU 7 11133150 11133150 single base substitution C T intron_variant BRCA-EU 7 11133877 11133877 single base substitution A C intron_variant BRCA-EU 7 11134002 11134002 single base substitution A G intron_variant BRCA-EU 7 11134575 11134575 single base substitution G A intron_variant BRCA-EU 7 11136468 11136468 single base substitution G C intron_variant BRCA-EU 7 11136495 11136495 deletion of <=200bp A - intron_variant BRCA-EU 7 11137093 11137093 single base substitution G A intron_variant BRCA-EU 7 11137438 11137438 single base substitution T G intron_variant BRCA-EU 7 11139794 11139794 single base substitution C T intron_variant BRCA-EU 7 11141905 11141905 insertion of <=200bp - A intron_variant BRCA-EU 7 11142201 11142201 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 11142201 11142201 single base substitution G A intron_variant BRCA-EU 7 11143744 11143744 single base substitution G A downstream_gene_variant BRCA-EU 7 11143744 11143744 single base substitution G A intron_variant BRCA-EU 7 11143744 11143744 single base substitution G A upstream_gene_variant BRCA-EU 7 11145160 11145160 single base substitution A T downstream_gene_variant BRCA-EU 7 11145160 11145160 single base substitution A T intron_variant BRCA-EU 7 11145160 11145160 single base substitution A T upstream_gene_variant BRCA-EU 7 11145463 11145463 single base substitution G C downstream_gene_variant BRCA-EU 7 11145463 11145463 single base substitution G C intron_variant BRCA-EU 7 11145463 11145463 single base substitution G C upstream_gene_variant BRCA-EU 7 11148090 11148090 single base substitution G C downstream_gene_variant BRCA-EU 7 11148090 11148090 single base substitution G C intron_variant BRCA-EU 7 11148090 11148090 single base substitution G C upstream_gene_variant BRCA-EU 7 11149997 11149997 deletion of <=200bp T - exon_variant BRCA-EU 7 11149997 11149997 deletion of <=200bp T - intron_variant BRCA-EU 7 11149997 11149997 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 11150208 11150208 single base substitution C T intron_variant BRCA-EU 7 11150208 11150208 single base substitution C T upstream_gene_variant BRCA-EU 7 11151647 11151647 single base substitution C T intron_variant BRCA-EU 7 11151691 11151691 single base substitution C T intron_variant BRCA-EU 7 11153498 11153498 single base substitution G A intron_variant BRCA-EU 7 11154304 11154304 single base substitution G C intron_variant BRCA-EU 7 11155082 11155082 single base substitution C T intron_variant BRCA-EU 7 11155962 11155962 single base substitution C A intron_variant BRCA-EU 7 11156881 11156884 deletion of <=200bp AGGT - intron_variant BRCA-EU 7 11157419 11157419 single base substitution G C intron_variant BRCA-EU 7 11157746 11157746 single base substitution G C intron_variant BRCA-EU 7 11157764 11157764 deletion of <=200bp A - intron_variant BRCA-EU 7 11157945 11157945 single base substitution G C intron_variant BRCA-EU 7 11158141 11158141 single base substitution C G intron_variant BRCA-EU 7 11158971 11158971 single base substitution T G intron_variant BRCA-EU 7 11159424 11159424 single base substitution T G intron_variant BRCA-EU 7 11159727 11159727 single base substitution G A intron_variant BRCA-EU 7 11160260 11160260 single base substitution T G intron_variant BRCA-EU 7 11167836 11167836 single base substitution C T intron_variant BRCA-EU 7 11168333 11168333 single base substitution G A intron_variant BRCA-EU 7 11169384 11169384 single base substitution C T intron_variant BRCA-EU 7 11169414 11169414 single base substitution G C intron_variant BRCA-EU 7 11171459 11171460 deletion of <=200bp TC - intron_variant BRCA-EU 7 11172747 11172747 single base substitution C A intron_variant BRCA-EU 7 11177649 11177649 single base substitution G A intron_variant BRCA-EU 7 11178057 11178057 single base substitution T G intron_variant BRCA-EU 7 11180166 11180166 single base substitution A G intron_variant BRCA-EU 7 11180452 11180452 single base substitution C G intron_variant BRCA-EU 7 11180667 11180667 insertion of <=200bp - A intron_variant BRCA-EU 7 11180878 11180878 single base substitution G C intron_variant BRCA-EU 7 11181240 11181240 single base substitution C G intron_variant BRCA-EU 7 11181764 11181764 single base substitution C A intron_variant BRCA-EU 7 11181968 11181968 single base substitution G C intron_variant BRCA-EU 7 11182125 11182125 single base substitution G C intron_variant BRCA-EU 7 11182545 11182545 single base substitution G C intron_variant BRCA-EU 7 11183050 11183050 insertion of <=200bp - T intron_variant BRCA-EU 7 11183580 11183580 single base substitution A T intron_variant BRCA-EU 7 11183600 11183600 single base substitution A G intron_variant BRCA-EU 7 11183738 11183738 deletion of <=200bp A - intron_variant BRCA-EU 7 11183859 11183859 single base substitution C T intron_variant BRCA-EU 7 11184173 11184173 single base substitution G T intron_variant BRCA-EU 7 11184522 11184522 insertion of <=200bp - A intron_variant BRCA-EU 7 11184587 11184587 single base substitution T C intron_variant BRCA-EU 7 11185279 11185279 single base substitution G A intron_variant BRCA-EU 7 11186390 11186390 single base substitution G C intron_variant BRCA-EU 7 11186761 11186761 single base substitution C T intron_variant BRCA-EU 7 11186799 11186799 single base substitution G A intron_variant BRCA-EU 7 11187566 11187566 single base substitution A G intron_variant BRCA-EU 7 11188381 11188381 single base substitution A G intron_variant BRCA-EU 7 11188871 11188871 single base substitution T G intron_variant BRCA-EU 7 11188970 11188970 single base substitution G A intron_variant BRCA-EU 7 11191347 11191347 single base substitution T G intron_variant BRCA-EU 7 11191473 11191473 single base substitution A C intron_variant BRCA-EU 7 11193129 11193129 single base substitution G T intron_variant BRCA-EU 7 11193774 11193774 single base substitution A C intron_variant BRCA-EU 7 11194597 11194597 deletion of <=200bp A - intron_variant BRCA-EU 7 11194597 11194597 insertion of <=200bp - A intron_variant BRCA-EU 7 11194699 11194699 single base substitution T C intron_variant BRCA-EU 7 11195401 11195401 insertion of <=200bp - T intron_variant BRCA-EU 7 11195640 11195640 single base substitution G T intron_variant BRCA-EU 7 11196723 11196723 single base substitution T C intron_variant BRCA-EU 7 11197139 11197144 deletion of <=200bp TCCCTA - intron_variant BRCA-EU 7 11200381 11200381 single base substitution T A intron_variant BRCA-EU 7 11201115 11201115 single base substitution C T intron_variant BRCA-EU 7 11201256 11201256 single base substitution A G intron_variant BRCA-EU 7 11201995 11201995 single base substitution G A intron_variant BRCA-EU 7 11203336 11203336 single base substitution G A intron_variant BRCA-EU 7 11205548 11205548 single base substitution G C intron_variant BRCA-EU 7 11206169 11206169 single base substitution G A intron_variant BRCA-EU 7 11206403 11206403 single base substitution T C intron_variant BRCA-EU 7 11207429 11207429 single base substitution G A intron_variant BRCA-EU 7 11207661 11207661 single base substitution A G intron_variant BRCA-EU 7 11207951 11207951 single base substitution G A intron_variant BRCA-EU 7 11209376 11209376 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 11210514 11210514 single base substitution C T downstream_gene_variant BRCA-EU 7 11211816 11211816 single base substitution C G downstream_gene_variant BRCA-EU 7 11212437 11212437 single base substitution G T downstream_gene_variant BRCA-EU 7 11213216 11213216 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 11213560 11213560 single base substitution A G downstream_gene_variant BRCA-FR 7 11012651 11012651 single base substitution C G upstream_gene_variant BRCA-FR 7 11024667 11024667 single base substitution C G intron_variant BRCA-FR 7 11027377 11027377 single base substitution C T intron_variant BRCA-FR 7 11030350 11030350 single base substitution G C 3_prime_UTR_variant BRCA-FR 7 11030350 11030350 single base substitution G C exon_variant BRCA-FR 7 11030350 11030350 single base substitution G C missense_variant K22N 66G>C BRCA-FR 7 11030350 11030350 single base substitution G C missense_variant K307N 921G>C BRCA-FR 7 11030727 11030727 single base substitution G C intron_variant BRCA-FR 7 11048789 11048789 single base substitution C A intron_variant BRCA-FR 7 11048789 11048789 single base substitution C A upstream_gene_variant BRCA-FR 7 11058066 11058066 single base substitution A T downstream_gene_variant BRCA-FR 7 11058066 11058066 single base substitution A T intron_variant BRCA-FR 7 11058326 11058326 single base substitution G A downstream_gene_variant BRCA-FR 7 11058326 11058326 single base substitution G A intron_variant BRCA-FR 7 11060592 11060592 single base substitution G A intron_variant BRCA-FR 7 11063129 11063129 single base substitution G C intron_variant BRCA-FR 7 11098454 11098454 single base substitution G C intron_variant BRCA-FR 7 11098454 11098454 single base substitution G C upstream_gene_variant BRCA-FR 7 11098522 11098522 single base substitution T C intron_variant BRCA-FR 7 11098522 11098522 single base substitution T C upstream_gene_variant BRCA-FR 7 11098724 11098724 single base substitution G A intron_variant BRCA-FR 7 11098724 11098724 single base substitution G A upstream_gene_variant BRCA-FR 7 11103659 11103659 single base substitution G C downstream_gene_variant BRCA-FR 7 11103659 11103659 single base substitution G C intron_variant BRCA-FR 7 11120773 11120773 single base substitution G C intron_variant BRCA-FR 7 11123032 11123032 single base substitution G A intron_variant BRCA-FR 7 11131565 11131565 single base substitution G A intron_variant BRCA-FR 7 11132851 11132851 single base substitution G A intron_variant BRCA-FR 7 11145160 11145160 single base substitution A T downstream_gene_variant BRCA-FR 7 11145160 11145160 single base substitution A T intron_variant BRCA-FR 7 11145160 11145160 single base substitution A T upstream_gene_variant BRCA-FR 7 11145463 11145463 single base substitution G C downstream_gene_variant BRCA-FR 7 11145463 11145463 single base substitution G C intron_variant BRCA-FR 7 11145463 11145463 single base substitution G C upstream_gene_variant BRCA-FR 7 11148090 11148090 single base substitution G C downstream_gene_variant BRCA-FR 7 11148090 11148090 single base substitution G C intron_variant BRCA-FR 7 11148090 11148090 single base substitution G C upstream_gene_variant BRCA-FR 7 11151647 11151647 single base substitution C T intron_variant BRCA-FR 7 11155082 11155082 single base substitution C T intron_variant BRCA-FR 7 11157348 11157348 single base substitution C A intron_variant BRCA-FR 7 11157945 11157945 single base substitution G C intron_variant BRCA-FR 7 11158971 11158971 single base substitution T G intron_variant BRCA-FR 7 11167836 11167836 single base substitution C T intron_variant BRCA-FR 7 11169414 11169414 single base substitution G C intron_variant BRCA-FR 7 11172747 11172747 single base substitution C A intron_variant BRCA-FR 7 11180878 11180878 single base substitution G C intron_variant BRCA-FR 7 11181968 11181968 single base substitution G C intron_variant BRCA-FR 7 11182125 11182125 single base substitution G C intron_variant BRCA-FR 7 11182545 11182545 single base substitution G C intron_variant BRCA-FR 7 11183859 11183859 single base substitution C T intron_variant BRCA-FR 7 11186761 11186761 single base substitution C T intron_variant BRCA-FR 7 11186799 11186799 single base substitution G A intron_variant BRCA-FR 7 11191179 11191179 single base substitution A C intron_variant BRCA-FR 7 11194596 11194596 single base substitution G C intron_variant BRCA-FR 7 11195640 11195640 single base substitution G T intron_variant BRCA-FR 7 11201995 11201995 single base substitution G A intron_variant BRCA-FR 7 11207429 11207429 single base substitution G A intron_variant BRCA-UK 7 11022049 11022049 single base substitution G A exon_variant BRCA-UK 7 11022049 11022049 single base substitution G A intron_variant BRCA-UK 7 11022049 11022049 single base substitution G A missense_variant E55K 163G>A BRCA-UK 7 11027544 11027544 single base substitution G A intron_variant BRCA-UK 7 11054919 11054919 single base substitution A G downstream_gene_variant BRCA-UK 7 11054919 11054919 single base substitution A G intron_variant BRCA-UK 7 11094677 11094677 single base substitution C T intron_variant BRCA-UK 7 11110565 11110565 single base substitution G C intron_variant BRCA-UK 7 11123004 11123004 single base substitution T G intron_variant BRCA-UK 7 11128724 11128724 single base substitution A T intron_variant BRCA-UK 7 11134575 11134575 single base substitution G A intron_variant BRCA-UK 7 11137820 11137820 single base substitution C G intron_variant BRCA-UK 7 11159748 11159748 single base substitution G C intron_variant BRCA-UK 7 11164338 11164338 single base substitution G C intron_variant BRCA-UK 7 11184173 11184173 single base substitution G T intron_variant BRCA-UK 7 11184717 11184717 single base substitution G C intron_variant BRCA-UK 7 11188381 11188381 single base substitution A G intron_variant BRCA-UK 7 11193774 11193774 single base substitution A C intron_variant BRCA-UK 7 11204773 11204773 single base substitution G T intron_variant BRCA-US 7 11022150 11022150 single base substitution A G exon_variant BRCA-US 7 11022150 11022150 single base substitution A G intron_variant BRCA-US 7 11022150 11022150 single base substitution A G synonymous_variant E88E 264A>G BRCA-US 7 11022484 11022484 single base substitution C T exon_variant BRCA-US 7 11022484 11022484 single base substitution C T intron_variant BRCA-US 7 11022484 11022484 single base substitution C T synonymous_variant L200L 598C>T BRCA-US 7 11022504 11022504 single base substitution T C exon_variant BRCA-US 7 11022504 11022504 single base substitution T C intron_variant BRCA-US 7 11022504 11022504 single base substitution T C synonymous_variant Y206Y 618T>C BRCA-US 7 11030350 11030350 single base substitution G C 3_prime_UTR_variant BRCA-US 7 11030350 11030350 single base substitution G C exon_variant BRCA-US 7 11030350 11030350 single base substitution G C missense_variant K22N 66G>C BRCA-US 7 11030350 11030350 single base substitution G C missense_variant K307N 921G>C BRCA-US 7 11075296 11075296 single base substitution T C 3_prime_UTR_variant BRCA-US 7 11075296 11075296 single base substitution T C exon_variant BRCA-US 7 11075296 11075296 single base substitution T C synonymous_variant C210C 630T>C BRCA-US 7 11075296 11075296 single base substitution T C synonymous_variant C495C 1485T>C BRCA-US 7 11078433 11078433 single base substitution G A 3_prime_UTR_variant BRCA-US 7 11078433 11078433 single base substitution G A downstream_gene_variant BRCA-US 7 11078433 11078433 single base substitution G A exon_variant BRCA-US 7 11078433 11078433 single base substitution G A missense_variant R391Q 1172G>A BRCA-US 7 11078433 11078433 single base substitution G A missense_variant R676Q 2027G>A BRCA-US 7 11078433 11078433 single base substitution G A upstream_gene_variant BRCA-US 7 11091322 11091322 single base substitution G A 3_prime_UTR_variant BRCA-US 7 11091322 11091322 single base substitution G A exon_variant BRCA-US 7 11091322 11091322 single base substitution G A missense_variant R514Q 1541G>A BRCA-US 7 11091322 11091322 single base substitution G A missense_variant R799Q 2396G>A BRCA-US 7 11209125 11209125 single base substitution T G 3_prime_UTR_variant BRCA-US 7 11209125 11209125 single base substitution T G downstream_gene_variant BRCA-US 7 11209125 11209125 single base substitution T G exon_variant BTCA-JP 7 11014589 11014589 single base substitution C G intron_variant BTCA-JP 7 11014634 11014634 single base substitution T C intron_variant BTCA-JP 7 11068281 11068281 single base substitution G C intron_variant BTCA-JP 7 11076172 11076172 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 11076172 11076172 single base substitution G A exon_variant BTCA-JP 7 11076172 11076172 single base substitution G A missense_variant R292H 875G>A BTCA-JP 7 11076172 11076172 single base substitution G A missense_variant R577H 1730G>A BTCA-JP 7 11078512 11078512 single base substitution C T downstream_gene_variant BTCA-JP 7 11078512 11078512 single base substitution C T intron_variant BTCA-JP 7 11078512 11078512 single base substitution C T upstream_gene_variant BTCA-JP 7 11101513 11101513 single base substitution A G intron_variant BTCA-JP 7 11151056 11151056 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 11151056 11151056 single base substitution G A exon_variant BTCA-JP 7 11151056 11151056 single base substitution G A missense_variant G627R 1879G>A CESC-US 7 11053396 11053396 single base substitution G A 3_prime_UTR_variant CESC-US 7 11053396 11053396 single base substitution G A exon_variant CESC-US 7 11053396 11053396 single base substitution G A synonymous_variant E356E 1068G>A CESC-US 7 11053396 11053396 single base substitution G A synonymous_variant E71E 213G>A CESC-US 7 11053396 11053396 single base substitution G A upstream_gene_variant CESC-US 7 11101423 11101423 single base substitution C T 3_prime_UTR_variant CESC-US 7 11101423 11101423 single base substitution C T exon_variant CESC-US 7 11101423 11101423 single base substitution C T synonymous_variant T544T 1632C>T CESC-US 7 11101423 11101423 single base substitution C T synonymous_variant T829T 2487C>T CESC-US 7 11101423 11101423 single base substitution C T upstream_gene_variant CLLE-ES 7 11066349 11066349 single base substitution G T intron_variant CLLE-ES 7 11112617 11112617 single base substitution T G intron_variant CLLE-ES 7 11142634 11142634 single base substitution C G 3_prime_UTR_variant CLLE-ES 7 11142634 11142634 single base substitution C G downstream_gene_variant CLLE-ES 7 11142634 11142634 single base substitution C G intron_variant CLLE-ES 7 11170594 11170594 single base substitution T C intron_variant CLLE-ES 7 11180852 11180852 single base substitution T G intron_variant CLLE-ES 7 11201965 11201965 single base substitution C T intron_variant COAD-US 7 11022157 11022157 single base substitution T C exon_variant COAD-US 7 11022157 11022157 single base substitution T C intron_variant COAD-US 7 11022157 11022157 single base substitution T C missense_variant S91P 271T>C COAD-US 7 11022178 11022178 single base substitution A T exon_variant COAD-US 7 11022178 11022178 single base substitution A T intron_variant COAD-US 7 11022178 11022178 single base substitution A T stop_gained K98* 292A>T COAD-US 7 11022287 11022287 deletion of <=200bp A - exon_variant COAD-US 7 11022287 11022287 deletion of <=200bp A - frameshift_variant E134 COAD-US 7 11022287 11022287 deletion of <=200bp A - intron_variant COAD-US 7 11022530 11022530 single base substitution G A exon_variant COAD-US 7 11022530 11022530 single base substitution G A intron_variant COAD-US 7 11022530 11022530 single base substitution G A missense_variant R215Q 644G>A COAD-US 7 11068417 11068417 single base substitution G C 3_prime_UTR_variant COAD-US 7 11068417 11068417 single base substitution G C downstream_gene_variant COAD-US 7 11068417 11068417 single base substitution G C exon_variant COAD-US 7 11068417 11068417 single base substitution G C missense_variant G191A 572G>C COAD-US 7 11068417 11068417 single base substitution G C missense_variant G476A 1427G>C COAD-US 7 11076134 11076134 single base substitution A T 3_prime_UTR_variant COAD-US 7 11076134 11076134 single base substitution A T exon_variant COAD-US 7 11076134 11076134 single base substitution A T missense_variant K279N 837A>T COAD-US 7 11076134 11076134 single base substitution A T missense_variant K564N 1692A>T COAD-US 7 11076685 11076685 single base substitution T C 3_prime_UTR_variant COAD-US 7 11076685 11076685 single base substitution T C downstream_gene_variant COAD-US 7 11076685 11076685 single base substitution T C exon_variant COAD-US 7 11076685 11076685 single base substitution T C synonymous_variant N364N 1092T>C COAD-US 7 11076685 11076685 single base substitution T C synonymous_variant N649N 1947T>C COAD-US 7 11080331 11080331 single base substitution C G 3_prime_UTR_variant COAD-US 7 11080331 11080331 single base substitution C G downstream_gene_variant COAD-US 7 11080331 11080331 single base substitution C G exon_variant COAD-US 7 11080331 11080331 single base substitution C G synonymous_variant P418P 1254C>G COAD-US 7 11080331 11080331 single base substitution C G synonymous_variant P703P 2109C>G COAD-US 7 11080331 11080331 single base substitution C G upstream_gene_variant COCA-CN 7 11014141 11014141 single base substitution T C intron_variant COCA-CN 7 11022392 11022392 single base substitution C T exon_variant COCA-CN 7 11022392 11022392 single base substitution C T intron_variant COCA-CN 7 11022392 11022392 single base substitution C T missense_variant T169M 506C>T COCA-CN 7 11022421 11022421 single base substitution G A exon_variant COCA-CN 7 11022421 11022421 single base substitution G A intron_variant COCA-CN 7 11022421 11022421 single base substitution G A missense_variant E179K 535G>A COCA-CN 7 11022779 11022779 single base substitution G A exon_variant COCA-CN 7 11022779 11022779 single base substitution G A intron_variant COCA-CN 7 11022779 11022779 single base substitution G A missense_variant S298N 893G>A COCA-CN 7 11031405 11031405 single base substitution G T intron_variant COCA-CN 7 11042085 11042085 single base substitution G T intron_variant COCA-CN 7 11054640 11054640 single base substitution T G exon_variant COCA-CN 7 11054640 11054640 single base substitution T G intron_variant COCA-CN 7 11055467 11055467 single base substitution G T downstream_gene_variant COCA-CN 7 11055467 11055467 single base substitution G T intron_variant COCA-CN 7 11062774 11062774 single base substitution G A intron_variant COCA-CN 7 11069734 11069734 single base substitution A G downstream_gene_variant COCA-CN 7 11069734 11069734 single base substitution A G intron_variant COCA-CN 7 11076014 11076014 single base substitution C A intron_variant COCA-CN 7 11076707 11076707 single base substitution G T 3_prime_UTR_variant COCA-CN 7 11076707 11076707 single base substitution G T downstream_gene_variant COCA-CN 7 11076707 11076707 single base substitution G T exon_variant COCA-CN 7 11076707 11076707 single base substitution G T stop_gained E372* 1114G>T COCA-CN 7 11076707 11076707 single base substitution G T stop_gained E657* 1969G>T COCA-CN 7 11078405 11078405 single base substitution G T 3_prime_UTR_variant COCA-CN 7 11078405 11078405 single base substitution G T downstream_gene_variant COCA-CN 7 11078405 11078405 single base substitution G T exon_variant COCA-CN 7 11078405 11078405 single base substitution G T stop_gained E382* 1144G>T COCA-CN 7 11078405 11078405 single base substitution G T stop_gained E667* 1999G>T COCA-CN 7 11078405 11078405 single base substitution G T upstream_gene_variant COCA-CN 7 11078577 11078577 single base substitution G A downstream_gene_variant COCA-CN 7 11078577 11078577 single base substitution G A intron_variant COCA-CN 7 11078577 11078577 single base substitution G A upstream_gene_variant COCA-CN 7 11080428 11080428 single base substitution G T downstream_gene_variant COCA-CN 7 11080428 11080428 single base substitution G T intron_variant COCA-CN 7 11080428 11080428 single base substitution G T upstream_gene_variant COCA-CN 7 11086245 11086245 single base substitution A G intron_variant COCA-CN 7 11091410 11091410 single base substitution A C splice_region_variant COCA-CN 7 11111978 11111978 single base substitution G A intron_variant COCA-CN 7 11112358 11112358 single base substitution A G intron_variant COCA-CN 7 11117198 11117198 single base substitution G A intron_variant COCA-CN 7 11125651 11125651 single base substitution C T intron_variant COCA-CN 7 11146283 11146283 single base substitution G A downstream_gene_variant COCA-CN 7 11146283 11146283 single base substitution G A intron_variant COCA-CN 7 11146283 11146283 single base substitution G A upstream_gene_variant COCA-CN 7 11165944 11165944 single base substitution A C intron_variant COCA-CN 7 11167851 11167851 single base substitution A T intron_variant COCA-CN 7 11175658 11175658 single base substitution C T intron_variant COCA-CN 7 11176133 11176133 single base substitution A C intron_variant COCA-CN 7 11204738 11204738 single base substitution G A intron_variant EOPC-DE 7 11018143 11018143 single base substitution G T intron_variant EOPC-DE 7 11063275 11063275 single base substitution G A intron_variant EOPC-DE 7 11106340 11106340 single base substitution A G downstream_gene_variant EOPC-DE 7 11106340 11106340 single base substitution A G intron_variant EOPC-DE 7 11126924 11126924 single base substitution T G intron_variant EOPC-DE 7 11150907 11150907 single base substitution G T exon_variant EOPC-DE 7 11150907 11150907 single base substitution G T intron_variant EOPC-DE 7 11154284 11154284 single base substitution T G intron_variant ESAD-UK 7 11008694 11008694 single base substitution T C upstream_gene_variant ESAD-UK 7 11008919 11008919 single base substitution C T upstream_gene_variant ESAD-UK 7 11009496 11009496 single base substitution A T upstream_gene_variant ESAD-UK 7 11009920 11009920 single base substitution G T upstream_gene_variant ESAD-UK 7 11010247 11010247 single base substitution T G upstream_gene_variant ESAD-UK 7 11011624 11011624 single base substitution G A upstream_gene_variant ESAD-UK 7 11013332 11013332 single base substitution C G upstream_gene_variant ESAD-UK 7 11013776 11013776 single base substitution G C 5_prime_UTR_variant ESAD-UK 7 11013776 11013776 single base substitution G C exon_variant ESAD-UK 7 11014324 11014324 single base substitution C G intron_variant ESAD-UK 7 11014944 11014944 insertion of <=200bp - T intron_variant ESAD-UK 7 11016398 11016398 single base substitution A G intron_variant ESAD-UK 7 11016684 11016684 single base substitution G A intron_variant ESAD-UK 7 11017718 11017718 single base substitution G C intron_variant ESAD-UK 7 11017801 11017801 single base substitution G T intron_variant ESAD-UK 7 11019094 11019094 single base substitution A G intron_variant ESAD-UK 7 11019677 11019677 single base substitution T C intron_variant ESAD-UK 7 11023222 11023222 single base substitution C T intron_variant ESAD-UK 7 11024370 11024370 single base substitution A C intron_variant ESAD-UK 7 11025202 11025202 single base substitution G A intron_variant ESAD-UK 7 11026839 11026839 single base substitution C T intron_variant ESAD-UK 7 11027857 11027857 deletion of <=200bp T - intron_variant ESAD-UK 7 11030842 11030842 single base substitution C A intron_variant ESAD-UK 7 11031046 11031046 single base substitution A T intron_variant ESAD-UK 7 11031230 11031230 single base substitution C T intron_variant ESAD-UK 7 11032241 11032241 single base substitution G C intron_variant ESAD-UK 7 11034420 11034420 single base substitution G C intron_variant ESAD-UK 7 11034761 11034761 single base substitution T C intron_variant ESAD-UK 7 11035012 11035012 single base substitution A T intron_variant ESAD-UK 7 11035494 11035494 single base substitution G A intron_variant ESAD-UK 7 11039350 11039350 single base substitution C T intron_variant ESAD-UK 7 11040684 11040684 single base substitution G A intron_variant ESAD-UK 7 11040709 11040709 single base substitution G A intron_variant ESAD-UK 7 11041497 11041497 single base substitution C G intron_variant ESAD-UK 7 11041608 11041608 deletion of <=200bp T - intron_variant ESAD-UK 7 11042353 11042353 single base substitution G A intron_variant ESAD-UK 7 11042409 11042409 single base substitution G T intron_variant ESAD-UK 7 11044525 11044525 single base substitution T A intron_variant ESAD-UK 7 11044966 11044966 deletion of <=200bp T - intron_variant ESAD-UK 7 11046045 11046045 single base substitution T A intron_variant ESAD-UK 7 11046561 11046561 single base substitution G A intron_variant ESAD-UK 7 11047221 11047221 single base substitution A G intron_variant ESAD-UK 7 11047996 11047996 single base substitution G T intron_variant ESAD-UK 7 11053122 11053122 single base substitution G T intron_variant ESAD-UK 7 11053122 11053122 single base substitution G T upstream_gene_variant ESAD-UK 7 11053408 11053408 single base substitution T C 3_prime_UTR_variant ESAD-UK 7 11053408 11053408 single base substitution T C exon_variant ESAD-UK 7 11053408 11053408 single base substitution T C synonymous_variant I360I 1080T>C ESAD-UK 7 11053408 11053408 single base substitution T C synonymous_variant I75I 225T>C ESAD-UK 7 11053408 11053408 single base substitution T C upstream_gene_variant ESAD-UK 7 11053493 11053493 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 11053493 11053493 single base substitution C T exon_variant ESAD-UK 7 11053493 11053493 single base substitution C T missense_variant P104S 310C>T ESAD-UK 7 11053493 11053493 single base substitution C T missense_variant P389S 1165C>T ESAD-UK 7 11056517 11056517 single base substitution C T downstream_gene_variant ESAD-UK 7 11056517 11056517 single base substitution C T intron_variant ESAD-UK 7 11057214 11057214 deletion of <=200bp T - downstream_gene_variant ESAD-UK 7 11057214 11057214 deletion of <=200bp T - intron_variant ESAD-UK 7 11057312 11057312 single base substitution T G downstream_gene_variant ESAD-UK 7 11057312 11057312 single base substitution T G intron_variant ESAD-UK 7 11058290 11058290 single base substitution A G downstream_gene_variant ESAD-UK 7 11058290 11058290 single base substitution A G intron_variant ESAD-UK 7 11059303 11059303 single base substitution T A downstream_gene_variant ESAD-UK 7 11059303 11059303 single base substitution T A intron_variant ESAD-UK 7 11060083 11060083 single base substitution T C intron_variant ESAD-UK 7 11060460 11060460 deletion of <=200bp T - intron_variant ESAD-UK 7 11060822 11060822 single base substitution T A intron_variant ESAD-UK 7 11062429 11062429 single base substitution T G intron_variant ESAD-UK 7 11062867 11062867 single base substitution G A intron_variant ESAD-UK 7 11062868 11062868 single base substitution C T intron_variant ESAD-UK 7 11064418 11064418 single base substitution G A intron_variant ESAD-UK 7 11064452 11064452 single base substitution C T intron_variant ESAD-UK 7 11067080 11067080 single base substitution C T intron_variant ESAD-UK 7 11067241 11067241 single base substitution A T intron_variant ESAD-UK 7 11069341 11069341 single base substitution C G downstream_gene_variant ESAD-UK 7 11069341 11069341 single base substitution C G intron_variant ESAD-UK 7 11069478 11069478 single base substitution G A downstream_gene_variant ESAD-UK 7 11069478 11069478 single base substitution G A intron_variant ESAD-UK 7 11077756 11077756 single base substitution G A downstream_gene_variant ESAD-UK 7 11077756 11077756 single base substitution G A intron_variant ESAD-UK 7 11077756 11077756 single base substitution G A upstream_gene_variant ESAD-UK 7 11078591 11078591 single base substitution G C downstream_gene_variant ESAD-UK 7 11078591 11078591 single base substitution G C intron_variant ESAD-UK 7 11078591 11078591 single base substitution G C upstream_gene_variant ESAD-UK 7 11080743 11080743 single base substitution T G downstream_gene_variant ESAD-UK 7 11080743 11080743 single base substitution T G intron_variant ESAD-UK 7 11080743 11080743 single base substitution T G upstream_gene_variant ESAD-UK 7 11082380 11082380 single base substitution C G 3_prime_UTR_variant ESAD-UK 7 11082380 11082380 single base substitution C G exon_variant ESAD-UK 7 11082380 11082380 single base substitution C G missense_variant H466D 1396C>G ESAD-UK 7 11082380 11082380 single base substitution C G missense_variant H751D 2251C>G ESAD-UK 7 11084021 11084021 single base substitution G A intron_variant ESAD-UK 7 11084424 11084424 single base substitution G A intron_variant ESAD-UK 7 11086763 11086763 single base substitution G T intron_variant ESAD-UK 7 11086773 11086773 single base substitution G A intron_variant ESAD-UK 7 11088605 11088605 single base substitution G A intron_variant ESAD-UK 7 11089832 11089832 single base substitution G A intron_variant ESAD-UK 7 11089847 11089847 single base substitution G A intron_variant ESAD-UK 7 11090235 11090235 single base substitution G A intron_variant ESAD-UK 7 11090472 11090472 deletion of <=200bp T - intron_variant ESAD-UK 7 11090849 11090849 single base substitution T G intron_variant ESAD-UK 7 11091540 11091540 single base substitution T G intron_variant ESAD-UK 7 11091982 11091982 single base substitution A T intron_variant ESAD-UK 7 11092007 11092007 single base substitution T A intron_variant ESAD-UK 7 11094068 11094068 single base substitution C T intron_variant ESAD-UK 7 11094581 11094600 deletion of <=200bp TCATGACATACGTAGGGCAA - intron_variant ESAD-UK 7 11094684 11094684 single base substitution T G intron_variant ESAD-UK 7 11094970 11094970 single base substitution A C intron_variant ESAD-UK 7 11097519 11097519 deletion of <=200bp A - intron_variant ESAD-UK 7 11097519 11097519 deletion of <=200bp A - upstream_gene_variant ESAD-UK 7 11097528 11097528 single base substitution G T intron_variant ESAD-UK 7 11097528 11097528 single base substitution G T upstream_gene_variant ESAD-UK 7 11097954 11097954 single base substitution G C intron_variant ESAD-UK 7 11097954 11097954 single base substitution G C upstream_gene_variant ESAD-UK 7 11099214 11099214 single base substitution C T intron_variant ESAD-UK 7 11099214 11099214 single base substitution C T upstream_gene_variant ESAD-UK 7 11099844 11099844 single base substitution A T intron_variant ESAD-UK 7 11099844 11099844 single base substitution A T upstream_gene_variant ESAD-UK 7 11100945 11100945 deletion of <=200bp T - exon_variant ESAD-UK 7 11100945 11100945 deletion of <=200bp T - intron_variant ESAD-UK 7 11100945 11100945 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 11102394 11102394 single base substitution A G downstream_gene_variant ESAD-UK 7 11102394 11102394 single base substitution A G exon_variant ESAD-UK 7 11102394 11102394 single base substitution A G intron_variant ESAD-UK 7 11102568 11102568 single base substitution A C downstream_gene_variant ESAD-UK 7 11102568 11102568 single base substitution A C exon_variant ESAD-UK 7 11102568 11102568 single base substitution A C intron_variant ESAD-UK 7 11103951 11103951 insertion of <=200bp - T downstream_gene_variant ESAD-UK 7 11103951 11103951 insertion of <=200bp - T intron_variant ESAD-UK 7 11104509 11104509 single base substitution G C downstream_gene_variant ESAD-UK 7 11104509 11104509 single base substitution G C intron_variant ESAD-UK 7 11105009 11105009 single base substitution A C downstream_gene_variant ESAD-UK 7 11105009 11105009 single base substitution A C intron_variant ESAD-UK 7 11108627 11108627 single base substitution A C intron_variant ESAD-UK 7 11110927 11110927 single base substitution C T intron_variant ESAD-UK 7 11115638 11115638 single base substitution C T intron_variant ESAD-UK 7 11116747 11116747 single base substitution G A intron_variant ESAD-UK 7 11117373 11117373 single base substitution C T intron_variant ESAD-UK 7 11118987 11118987 single base substitution C A intron_variant ESAD-UK 7 11119996 11119996 deletion of <=200bp T - intron_variant ESAD-UK 7 11121081 11121081 single base substitution A G intron_variant ESAD-UK 7 11123680 11123680 single base substitution C A intron_variant ESAD-UK 7 11125184 11125184 single base substitution C T intron_variant ESAD-UK 7 11125281 11125281 insertion of <=200bp - T intron_variant ESAD-UK 7 11127055 11127055 single base substitution G T intron_variant ESAD-UK 7 11127342 11127342 single base substitution C T intron_variant ESAD-UK 7 11128319 11128319 single base substitution A G intron_variant ESAD-UK 7 11131026 11131026 single base substitution G T intron_variant ESAD-UK 7 11131196 11131196 deletion of <=200bp A - intron_variant ESAD-UK 7 11131778 11131778 single base substitution G T intron_variant ESAD-UK 7 11132532 11132532 deletion of <=200bp T - intron_variant ESAD-UK 7 11134496 11134496 single base substitution G A intron_variant ESAD-UK 7 11134986 11134986 single base substitution T G intron_variant ESAD-UK 7 11135218 11135218 single base substitution C G intron_variant ESAD-UK 7 11135849 11135849 single base substitution G T intron_variant ESAD-UK 7 11136485 11136485 single base substitution T A intron_variant ESAD-UK 7 11139245 11139245 single base substitution A T intron_variant ESAD-UK 7 11140159 11140159 single base substitution A G intron_variant ESAD-UK 7 11142540 11142540 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 11142540 11142540 single base substitution G A downstream_gene_variant ESAD-UK 7 11142540 11142540 single base substitution G A intron_variant ESAD-UK 7 11142813 11142813 single base substitution A C 3_prime_UTR_variant ESAD-UK 7 11142813 11142813 single base substitution A C downstream_gene_variant ESAD-UK 7 11142813 11142813 single base substitution A C intron_variant ESAD-UK 7 11147871 11147871 single base substitution A T downstream_gene_variant ESAD-UK 7 11147871 11147871 single base substitution A T intron_variant ESAD-UK 7 11147871 11147871 single base substitution A T upstream_gene_variant ESAD-UK 7 11148514 11148514 single base substitution C T exon_variant ESAD-UK 7 11148514 11148514 single base substitution C T intron_variant ESAD-UK 7 11148514 11148514 single base substitution C T upstream_gene_variant ESAD-UK 7 11149021 11149021 single base substitution G C exon_variant ESAD-UK 7 11149021 11149021 single base substitution G C intron_variant ESAD-UK 7 11149021 11149021 single base substitution G C upstream_gene_variant ESAD-UK 7 11149099 11149099 single base substitution A T exon_variant ESAD-UK 7 11149099 11149099 single base substitution A T intron_variant ESAD-UK 7 11149099 11149099 single base substitution A T upstream_gene_variant ESAD-UK 7 11151055 11151055 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 11151055 11151055 single base substitution C T exon_variant ESAD-UK 7 11151055 11151055 single base substitution C T synonymous_variant Y626Y 1878C>T ESAD-UK 7 11151890 11151890 single base substitution G A intron_variant ESAD-UK 7 11153290 11153290 single base substitution G A intron_variant ESAD-UK 7 11153443 11153443 single base substitution G C intron_variant ESAD-UK 7 11153740 11153740 single base substitution A T intron_variant ESAD-UK 7 11154906 11154906 single base substitution T G intron_variant ESAD-UK 7 11155480 11155480 single base substitution A C intron_variant ESAD-UK 7 11155628 11155628 single base substitution G C intron_variant ESAD-UK 7 11156553 11156553 single base substitution A G intron_variant ESAD-UK 7 11159115 11159115 single base substitution G C intron_variant ESAD-UK 7 11161424 11161424 single base substitution C T intron_variant ESAD-UK 7 11162861 11162861 single base substitution T C intron_variant ESAD-UK 7 11163035 11163035 single base substitution C T intron_variant ESAD-UK 7 11163477 11163477 single base substitution G A intron_variant ESAD-UK 7 11166065 11166065 single base substitution G A intron_variant ESAD-UK 7 11166186 11166186 single base substitution G A intron_variant ESAD-UK 7 11166505 11166505 single base substitution C T intron_variant ESAD-UK 7 11168839 11168839 single base substitution T A intron_variant ESAD-UK 7 11169694 11169694 single base substitution C G intron_variant ESAD-UK 7 11170160 11170160 single base substitution G C intron_variant ESAD-UK 7 11170705 11170705 deletion of <=200bp G - intron_variant ESAD-UK 7 11173066 11173066 single base substitution A G intron_variant ESAD-UK 7 11173658 11173658 single base substitution A T intron_variant ESAD-UK 7 11173761 11173761 deletion of <=200bp T - intron_variant ESAD-UK 7 11173849 11173849 single base substitution T A intron_variant ESAD-UK 7 11174260 11174260 single base substitution C T intron_variant ESAD-UK 7 11174652 11174652 single base substitution T C intron_variant ESAD-UK 7 11175886 11175886 single base substitution G T intron_variant ESAD-UK 7 11176362 11176362 single base substitution A C intron_variant ESAD-UK 7 11176990 11176990 single base substitution C T intron_variant ESAD-UK 7 11177281 11177281 single base substitution G T intron_variant ESAD-UK 7 11178176 11178176 single base substitution T A intron_variant ESAD-UK 7 11178305 11178305 single base substitution T C intron_variant ESAD-UK 7 11179156 11179156 single base substitution A G intron_variant ESAD-UK 7 11180022 11180022 single base substitution T G intron_variant ESAD-UK 7 11180117 11180117 single base substitution G A intron_variant ESAD-UK 7 11180159 11180159 deletion of <=200bp T - intron_variant ESAD-UK 7 11180159 11180159 insertion of <=200bp - T intron_variant ESAD-UK 7 11180965 11180965 single base substitution A T intron_variant ESAD-UK 7 11181340 11181340 single base substitution A C intron_variant ESAD-UK 7 11181958 11181958 single base substitution C T intron_variant ESAD-UK 7 11183157 11183157 single base substitution G A intron_variant ESAD-UK 7 11184764 11184764 single base substitution A T intron_variant ESAD-UK 7 11188982 11188982 single base substitution C T intron_variant ESAD-UK 7 11190675 11190675 single base substitution A G intron_variant ESAD-UK 7 11193810 11193810 single base substitution T C intron_variant ESAD-UK 7 11194330 11194330 single base substitution G A intron_variant ESAD-UK 7 11194770 11194770 single base substitution A G intron_variant ESAD-UK 7 11196376 11196376 single base substitution G A intron_variant ESAD-UK 7 11196620 11196620 single base substitution T C intron_variant ESAD-UK 7 11198364 11198364 single base substitution G A intron_variant ESAD-UK 7 11198951 11198951 single base substitution T G intron_variant ESAD-UK 7 11201209 11201209 single base substitution G C intron_variant ESAD-UK 7 11204187 11204187 single base substitution C T intron_variant ESAD-UK 7 11207874 11207874 single base substitution T C intron_variant ESAD-UK 7 11208613 11208613 single base substitution A G intron_variant ESAD-UK 7 11209673 11209673 single base substitution G A downstream_gene_variant ESAD-UK 7 11209938 11209938 single base substitution C T downstream_gene_variant ESAD-UK 7 11210087 11210087 single base substitution A C downstream_gene_variant ESAD-UK 7 11211377 11211377 single base substitution G A downstream_gene_variant ESAD-UK 7 11213678 11213678 single base substitution C T downstream_gene_variant ESAD-UK 7 11213750 11213750 single base substitution T A downstream_gene_variant ESCA-CN 7 11022418 11022418 single base substitution A G exon_variant ESCA-CN 7 11022418 11022418 single base substitution A G intron_variant ESCA-CN 7 11022418 11022418 single base substitution A G missense_variant S178G 532A>G ESCA-CN 7 11062479 11062479 single base substitution T A intron_variant ESCA-CN 7 11076410 11076410 single base substitution C T exon_variant ESCA-CN 7 11076410 11076410 single base substitution C T intron_variant KIRC-US 7 11076624 11076624 single base substitution G C 3_prime_UTR_variant KIRC-US 7 11076624 11076624 single base substitution G C downstream_gene_variant KIRC-US 7 11076624 11076624 single base substitution G C exon_variant KIRC-US 7 11076624 11076624 single base substitution G C missense_variant R344P 1031G>C KIRC-US 7 11076624 11076624 single base substitution G C missense_variant R629P 1886G>C KIRC-US 7 11078422 11078422 single base substitution T G 3_prime_UTR_variant KIRC-US 7 11078422 11078422 single base substitution T G downstream_gene_variant KIRC-US 7 11078422 11078422 single base substitution T G exon_variant KIRC-US 7 11078422 11078422 single base substitution T G missense_variant N387K 1161T>G KIRC-US 7 11078422 11078422 single base substitution T G missense_variant N672K 2016T>G KIRC-US 7 11078422 11078422 single base substitution T G upstream_gene_variant LAML-KR 7 11022230 11022230 single base substitution A G exon_variant LAML-KR 7 11022230 11022230 single base substitution A G intron_variant LAML-KR 7 11022230 11022230 single base substitution A G missense_variant K115R 344A>G LAML-KR 7 11043994 11043994 single base substitution G T intron_variant LAML-KR 7 11086714 11086714 single base substitution G T intron_variant LAML-KR 7 11209087 11209087 single base substitution C T 3_prime_UTR_variant LAML-KR 7 11209087 11209087 single base substitution C T exon_variant LAML-KR 7 11209087 11209087 single base substitution C T synonymous_variant L654L 1962C>T LICA-CN 7 11022634 11022634 single base substitution G A exon_variant LICA-CN 7 11022634 11022634 single base substitution G A intron_variant LICA-CN 7 11022634 11022634 single base substitution G A missense_variant E250K 748G>A LICA-CN 7 11075293 11075293 single base substitution T G 3_prime_UTR_variant LICA-CN 7 11075293 11075293 single base substitution T G exon_variant LICA-CN 7 11075293 11075293 single base substitution T G stop_gained Y209* 627T>G LICA-CN 7 11075293 11075293 single base substitution T G stop_gained Y494* 1482T>G LICA-CN 7 11080325 11080325 single base substitution A C 3_prime_UTR_variant LICA-CN 7 11080325 11080325 single base substitution A C downstream_gene_variant LICA-CN 7 11080325 11080325 single base substitution A C exon_variant LICA-CN 7 11080325 11080325 single base substitution A C synonymous_variant R416R 1248A>C LICA-CN 7 11080325 11080325 single base substitution A C synonymous_variant R701R 2103A>C LICA-CN 7 11080325 11080325 single base substitution A C upstream_gene_variant LICA-FR 7 11011833 11011833 single base substitution G C upstream_gene_variant LICA-FR 7 11014572 11014572 single base substitution G C missense_variant D38H 112G>C LICA-FR 7 11014572 11014572 single base substitution G C missense_variant Q15H 45G>C LICA-FR 7 11014572 11014572 single base substitution G C splice_region_variant LICA-FR 7 11037461 11037461 single base substitution G A intron_variant LICA-FR 7 11065737 11065738 deletion of <=200bp AA - intron_variant LICA-FR 7 11071094 11071094 single base substitution A G downstream_gene_variant LICA-FR 7 11071094 11071094 single base substitution A G intron_variant LICA-FR 7 11071094 11071094 single base substitution A G upstream_gene_variant LICA-FR 7 11076271 11076271 single base substitution A G 3_prime_UTR_variant LICA-FR 7 11076271 11076271 single base substitution A G exon_variant LICA-FR 7 11076271 11076271 single base substitution A G missense_variant H325R 974A>G LICA-FR 7 11076271 11076271 single base substitution A G missense_variant H610R 1829A>G LICA-FR 7 11096343 11096343 single base substitution A G intron_variant LICA-FR 7 11096343 11096343 single base substitution A G upstream_gene_variant LICA-FR 7 11103744 11103744 single base substitution C T downstream_gene_variant LICA-FR 7 11103744 11103744 single base substitution C T intron_variant LICA-FR 7 11128475 11128475 single base substitution A T intron_variant LICA-FR 7 11141783 11141783 single base substitution A C intron_variant LICA-FR 7 11146143 11146143 single base substitution G T downstream_gene_variant LICA-FR 7 11146143 11146143 single base substitution G T intron_variant LICA-FR 7 11146143 11146143 single base substitution G T upstream_gene_variant LICA-FR 7 11150010 11150010 single base substitution A G exon_variant LICA-FR 7 11150010 11150010 single base substitution A G intron_variant LICA-FR 7 11150010 11150010 single base substitution A G upstream_gene_variant LICA-FR 7 11155263 11155263 single base substitution A G intron_variant LICA-FR 7 11169051 11169051 single base substitution T G intron_variant LICA-FR 7 11177218 11177219 deletion of <=200bp TT - intron_variant LICA-FR 7 11188934 11188934 single base substitution A C intron_variant LICA-FR 7 11209033 11209033 single base substitution T G intron_variant LICA-FR 7 11209071 11209071 single base substitution A G 3_prime_UTR_variant LICA-FR 7 11209071 11209071 single base substitution A G exon_variant LICA-FR 7 11209071 11209071 single base substitution A G missense_variant N649S 1946A>G LIHC-US 7 11030469 11030469 single base substitution A G 3_prime_UTR_variant LIHC-US 7 11030469 11030469 single base substitution A G exon_variant LIHC-US 7 11030469 11030469 single base substitution A G missense_variant H347R 1040A>G LIHC-US 7 11030469 11030469 single base substitution A G missense_variant H62R 185A>G LINC-JP 7 11035893 11035893 single base substitution G C intron_variant LINC-JP 7 11041239 11041239 single base substitution T G intron_variant LINC-JP 7 11049075 11049075 single base substitution C T intron_variant LINC-JP 7 11049075 11049075 single base substitution C T upstream_gene_variant LINC-JP 7 11054516 11054516 deletion of <=200bp T - intron_variant LINC-JP 7 11061066 11061066 single base substitution T A intron_variant LINC-JP 7 11071486 11071486 single base substitution A G downstream_gene_variant LINC-JP 7 11071486 11071486 single base substitution A G intron_variant LINC-JP 7 11071486 11071486 single base substitution A G upstream_gene_variant LINC-JP 7 11075892 11075892 single base substitution A G intron_variant LINC-JP 7 11080442 11080442 single base substitution A G downstream_gene_variant LINC-JP 7 11080442 11080442 single base substitution A G intron_variant LINC-JP 7 11080442 11080442 single base substitution A G upstream_gene_variant LINC-JP 7 11082611 11082611 single base substitution G T intron_variant LINC-JP 7 11083617 11083617 insertion of <=200bp - A intron_variant LINC-JP 7 11102618 11102618 single base substitution G T downstream_gene_variant LINC-JP 7 11102618 11102618 single base substitution G T exon_variant LINC-JP 7 11102618 11102618 single base substitution G T intron_variant LINC-JP 7 11109174 11109174 single base substitution T A intron_variant LINC-JP 7 11109176 11109176 single base substitution A T intron_variant LINC-JP 7 11110880 11110880 single base substitution A G intron_variant LINC-JP 7 11111013 11111013 single base substitution A T intron_variant LINC-JP 7 11114580 11114580 single base substitution T A intron_variant LINC-JP 7 11157205 11157205 single base substitution T A intron_variant LINC-JP 7 11157209 11157209 single base substitution T C intron_variant LINC-JP 7 11164592 11164592 single base substitution G T intron_variant LINC-JP 7 11187381 11187381 single base substitution A G intron_variant LINC-JP 7 11196001 11196001 single base substitution A G intron_variant LINC-JP 7 11205685 11205685 single base substitution C T intron_variant LIRI-JP 7 11009541 11009541 single base substitution A G upstream_gene_variant LIRI-JP 7 11009570 11009570 single base substitution T C upstream_gene_variant LIRI-JP 7 11010064 11010064 single base substitution G A upstream_gene_variant LIRI-JP 7 11010275 11010275 single base substitution C A upstream_gene_variant LIRI-JP 7 11010416 11010416 single base substitution A C upstream_gene_variant LIRI-JP 7 11011298 11011298 single base substitution A T upstream_gene_variant LIRI-JP 7 11011622 11011622 single base substitution G A upstream_gene_variant LIRI-JP 7 11012449 11012449 single base substitution C A upstream_gene_variant LIRI-JP 7 11016251 11016251 single base substitution A G intron_variant LIRI-JP 7 11016889 11016889 single base substitution T A intron_variant LIRI-JP 7 11019502 11019509 deletion of <=200bp ATTTGGAG - intron_variant LIRI-JP 7 11021436 11021436 single base substitution A C intron_variant LIRI-JP 7 11023017 11023017 single base substitution A G intron_variant LIRI-JP 7 11026477 11026477 single base substitution A G intron_variant LIRI-JP 7 11026838 11026838 single base substitution T C intron_variant LIRI-JP 7 11027757 11027757 single base substitution T C intron_variant LIRI-JP 7 11029485 11029485 single base substitution T A intron_variant LIRI-JP 7 11030619 11030619 single base substitution A G intron_variant LIRI-JP 7 11032486 11032486 single base substitution T C intron_variant LIRI-JP 7 11034239 11034239 single base substitution C T intron_variant LIRI-JP 7 11035507 11035507 single base substitution A G intron_variant LIRI-JP 7 11035687 11035687 single base substitution T C intron_variant LIRI-JP 7 11035764 11035764 single base substitution A G intron_variant LIRI-JP 7 11036318 11036318 single base substitution C G intron_variant LIRI-JP 7 11037122 11037122 single base substitution A G intron_variant LIRI-JP 7 11037426 11037426 single base substitution C G intron_variant LIRI-JP 7 11039251 11039251 single base substitution G A intron_variant LIRI-JP 7 11039749 11039749 deletion of <=200bp A - intron_variant LIRI-JP 7 11043162 11043162 single base substitution A G intron_variant LIRI-JP 7 11043265 11043265 single base substitution A G intron_variant LIRI-JP 7 11047018 11047018 single base substitution C A intron_variant LIRI-JP 7 11047205 11047205 single base substitution A G intron_variant LIRI-JP 7 11048097 11048097 single base substitution T C intron_variant LIRI-JP 7 11051065 11051065 single base substitution A G intron_variant LIRI-JP 7 11051065 11051065 single base substitution A G upstream_gene_variant LIRI-JP 7 11052012 11052012 single base substitution G A intron_variant LIRI-JP 7 11052012 11052012 single base substitution G A upstream_gene_variant LIRI-JP 7 11052039 11052039 single base substitution G A intron_variant LIRI-JP 7 11052039 11052039 single base substitution G A upstream_gene_variant LIRI-JP 7 11053132 11053132 single base substitution C T intron_variant LIRI-JP 7 11053132 11053132 single base substitution C T upstream_gene_variant LIRI-JP 7 11061532 11061551 deletion of <=200bp TGTAGCATGCATAGCCTCTG - intron_variant LIRI-JP 7 11061538 11061538 single base substitution A G intron_variant LIRI-JP 7 11064954 11064954 single base substitution G T intron_variant LIRI-JP 7 11065146 11065146 single base substitution C T intron_variant LIRI-JP 7 11066373 11066373 single base substitution A G intron_variant LIRI-JP 7 11066714 11066714 single base substitution C T intron_variant LIRI-JP 7 11067845 11067845 single base substitution T A intron_variant LIRI-JP 7 11068449 11068449 single base substitution G A downstream_gene_variant LIRI-JP 7 11068449 11068449 single base substitution G A splice_region_variant LIRI-JP 7 11070302 11070302 single base substitution G T downstream_gene_variant LIRI-JP 7 11070302 11070302 single base substitution G T intron_variant LIRI-JP 7 11070302 11070302 single base substitution G T upstream_gene_variant LIRI-JP 7 11070567 11070567 single base substitution G A downstream_gene_variant LIRI-JP 7 11070567 11070567 single base substitution G A intron_variant LIRI-JP 7 11070567 11070567 single base substitution G A upstream_gene_variant LIRI-JP 7 11072886 11072886 single base substitution C T downstream_gene_variant LIRI-JP 7 11072886 11072886 single base substitution C T intron_variant LIRI-JP 7 11072886 11072886 single base substitution C T upstream_gene_variant LIRI-JP 7 11073061 11073061 single base substitution G A downstream_gene_variant LIRI-JP 7 11073061 11073061 single base substitution G A intron_variant LIRI-JP 7 11073061 11073061 single base substitution G A upstream_gene_variant LIRI-JP 7 11073279 11073279 single base substitution A G downstream_gene_variant LIRI-JP 7 11073279 11073279 single base substitution A G intron_variant LIRI-JP 7 11073279 11073279 single base substitution A G upstream_gene_variant LIRI-JP 7 11074245 11074245 single base substitution G A intron_variant LIRI-JP 7 11074245 11074245 single base substitution G A upstream_gene_variant LIRI-JP 7 11074479 11074479 single base substitution A T intron_variant LIRI-JP 7 11074479 11074479 single base substitution A T upstream_gene_variant LIRI-JP 7 11075437 11075437 single base substitution G A intron_variant LIRI-JP 7 11075678 11075678 single base substitution A G intron_variant LIRI-JP 7 11076061 11076061 single base substitution G T 3_prime_UTR_variant LIRI-JP 7 11076061 11076061 single base substitution G T exon_variant LIRI-JP 7 11076061 11076061 single base substitution G T missense_variant R255L 764G>T LIRI-JP 7 11076061 11076061 single base substitution G T missense_variant R540L 1619G>T LIRI-JP 7 11078910 11078910 single base substitution A G downstream_gene_variant LIRI-JP 7 11078910 11078910 single base substitution A G intron_variant LIRI-JP 7 11078910 11078910 single base substitution A G upstream_gene_variant LIRI-JP 7 11080648 11080648 single base substitution A G downstream_gene_variant LIRI-JP 7 11080648 11080648 single base substitution A G intron_variant LIRI-JP 7 11080648 11080648 single base substitution A G upstream_gene_variant LIRI-JP 7 11083409 11083409 single base substitution A G intron_variant LIRI-JP 7 11085522 11085522 single base substitution G T intron_variant LIRI-JP 7 11086795 11086795 single base substitution A T intron_variant LIRI-JP 7 11086841 11086841 single base substitution G A intron_variant LIRI-JP 7 11086884 11086884 single base substitution A T intron_variant LIRI-JP 7 11089240 11089240 deletion of <=200bp T - intron_variant LIRI-JP 7 11089362 11089362 single base substitution C G intron_variant LIRI-JP 7 11092333 11092333 single base substitution T C intron_variant LIRI-JP 7 11094711 11094711 single base substitution G C intron_variant LIRI-JP 7 11095120 11095120 single base substitution T C intron_variant LIRI-JP 7 11096971 11096971 single base substitution T C intron_variant LIRI-JP 7 11096971 11096971 single base substitution T C upstream_gene_variant LIRI-JP 7 11097513 11097513 single base substitution A G intron_variant LIRI-JP 7 11097513 11097513 single base substitution A G upstream_gene_variant LIRI-JP 7 11097982 11097982 single base substitution G A intron_variant LIRI-JP 7 11097982 11097982 single base substitution G A upstream_gene_variant LIRI-JP 7 11100221 11100221 single base substitution A G intron_variant LIRI-JP 7 11100221 11100221 single base substitution A G upstream_gene_variant LIRI-JP 7 11100574 11100579 deletion of <=200bp TATATT - intron_variant LIRI-JP 7 11100574 11100579 deletion of <=200bp TATATT - upstream_gene_variant LIRI-JP 7 11100601 11100606 deletion of <=200bp TTAGAA - intron_variant LIRI-JP 7 11100601 11100606 deletion of <=200bp TTAGAA - upstream_gene_variant LIRI-JP 7 11102026 11102026 single base substitution A C exon_variant LIRI-JP 7 11102026 11102026 single base substitution A C intron_variant LIRI-JP 7 11102793 11102793 single base substitution A G downstream_gene_variant LIRI-JP 7 11102793 11102793 single base substitution A G intron_variant LIRI-JP 7 11104480 11104480 single base substitution A G downstream_gene_variant LIRI-JP 7 11104480 11104480 single base substitution A G intron_variant LIRI-JP 7 11105606 11105606 single base substitution C T downstream_gene_variant LIRI-JP 7 11105606 11105606 single base substitution C T intron_variant LIRI-JP 7 11106188 11106188 single base substitution A G downstream_gene_variant LIRI-JP 7 11106188 11106188 single base substitution A G intron_variant LIRI-JP 7 11106495 11106495 single base substitution A T downstream_gene_variant LIRI-JP 7 11106495 11106495 single base substitution A T intron_variant LIRI-JP 7 11108518 11108518 single base substitution T G intron_variant LIRI-JP 7 11109479 11109479 single base substitution A T intron_variant LIRI-JP 7 11109506 11109506 single base substitution A G intron_variant LIRI-JP 7 11109549 11109549 single base substitution A G intron_variant LIRI-JP 7 11109731 11109731 single base substitution A T intron_variant LIRI-JP 7 11110444 11110444 single base substitution A G intron_variant LIRI-JP 7 11110641 11110641 single base substitution A G intron_variant LIRI-JP 7 11110880 11110880 single base substitution A T intron_variant LIRI-JP 7 11112372 11112372 single base substitution G A intron_variant LIRI-JP 7 11114168 11114168 single base substitution C T intron_variant LIRI-JP 7 11114202 11114202 single base substitution C T intron_variant LIRI-JP 7 11115363 11115363 single base substitution A G intron_variant LIRI-JP 7 11116133 11116133 single base substitution C T intron_variant LIRI-JP 7 11117356 11117356 single base substitution T C intron_variant LIRI-JP 7 11118362 11118362 single base substitution A G intron_variant LIRI-JP 7 11119519 11119519 single base substitution T G intron_variant LIRI-JP 7 11120669 11120669 single base substitution A T intron_variant LIRI-JP 7 11121247 11121247 single base substitution G T intron_variant LIRI-JP 7 11122792 11122792 single base substitution G T intron_variant LIRI-JP 7 11126858 11126858 single base substitution A C intron_variant LIRI-JP 7 11127240 11127240 single base substitution A G intron_variant LIRI-JP 7 11129305 11129305 single base substitution G A intron_variant LIRI-JP 7 11131738 11131739 deletion of <=200bp TC - intron_variant LIRI-JP 7 11133265 11133265 single base substitution C T intron_variant LIRI-JP 7 11133270 11133270 single base substitution A G intron_variant LIRI-JP 7 11134759 11134759 single base substitution G T intron_variant LIRI-JP 7 11137577 11137577 single base substitution G A intron_variant LIRI-JP 7 11140348 11140348 single base substitution G T intron_variant LIRI-JP 7 11142361 11142361 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 11142361 11142361 single base substitution G A downstream_gene_variant LIRI-JP 7 11142361 11142361 single base substitution G A intron_variant LIRI-JP 7 11142874 11142874 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 11142874 11142874 single base substitution A G downstream_gene_variant LIRI-JP 7 11142874 11142874 single base substitution A G intron_variant LIRI-JP 7 11143049 11143049 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 11143049 11143049 single base substitution A G downstream_gene_variant LIRI-JP 7 11143049 11143049 single base substitution A G exon_variant LIRI-JP 7 11143049 11143049 single base substitution A G intron_variant LIRI-JP 7 11147098 11147098 single base substitution C T downstream_gene_variant LIRI-JP 7 11147098 11147098 single base substitution C T intron_variant LIRI-JP 7 11147098 11147098 single base substitution C T upstream_gene_variant LIRI-JP 7 11147145 11147145 single base substitution A G downstream_gene_variant LIRI-JP 7 11147145 11147145 single base substitution A G intron_variant LIRI-JP 7 11147145 11147145 single base substitution A G upstream_gene_variant LIRI-JP 7 11150348 11150349 deletion of <=200bp TA - intron_variant LIRI-JP 7 11150348 11150349 deletion of <=200bp TA - upstream_gene_variant LIRI-JP 7 11150832 11150832 single base substitution T G exon_variant LIRI-JP 7 11150832 11150832 single base substitution T G intron_variant LIRI-JP 7 11150841 11150841 deletion of <=200bp T - exon_variant LIRI-JP 7 11150841 11150841 deletion of <=200bp T - intron_variant LIRI-JP 7 11152430 11152430 single base substitution G T intron_variant LIRI-JP 7 11153375 11153375 single base substitution A T intron_variant LIRI-JP 7 11155186 11155186 single base substitution C T intron_variant LIRI-JP 7 11157205 11157205 single base substitution T A intron_variant LIRI-JP 7 11157946 11157946 single base substitution A G intron_variant LIRI-JP 7 11158028 11158028 single base substitution C T intron_variant LIRI-JP 7 11159939 11159939 single base substitution A G intron_variant LIRI-JP 7 11160230 11160230 single base substitution A G intron_variant LIRI-JP 7 11160916 11160916 single base substitution T C intron_variant LIRI-JP 7 11163240 11163240 single base substitution C G intron_variant LIRI-JP 7 11164367 11164367 single base substitution A G intron_variant LIRI-JP 7 11165181 11165181 single base substitution A G intron_variant LIRI-JP 7 11165563 11165563 single base substitution A C intron_variant LIRI-JP 7 11166149 11166149 single base substitution A T intron_variant LIRI-JP 7 11172322 11172322 single base substitution T C intron_variant LIRI-JP 7 11173803 11173803 single base substitution A C intron_variant LIRI-JP 7 11176519 11176519 single base substitution A T intron_variant LIRI-JP 7 11178129 11178129 single base substitution A T intron_variant LIRI-JP 7 11179920 11179920 single base substitution C T intron_variant LIRI-JP 7 11181449 11181449 single base substitution A G intron_variant LIRI-JP 7 11184033 11184033 single base substitution C A intron_variant LIRI-JP 7 11186963 11186963 single base substitution T A intron_variant LIRI-JP 7 11187369 11187369 single base substitution T G intron_variant LIRI-JP 7 11187378 11187378 single base substitution T C intron_variant LIRI-JP 7 11187384 11187384 single base substitution T A intron_variant LIRI-JP 7 11190429 11190429 single base substitution T G intron_variant LIRI-JP 7 11191786 11191805 deletion of <=200bp CTGGTCAGTATCCATTGAGC - intron_variant LIRI-JP 7 11192602 11192602 single base substitution C G intron_variant LIRI-JP 7 11194074 11194074 single base substitution C T intron_variant LIRI-JP 7 11195455 11195455 single base substitution A G intron_variant LIRI-JP 7 11196290 11196290 single base substitution C A intron_variant LIRI-JP 7 11196654 11196654 single base substitution C A intron_variant LIRI-JP 7 11196720 11196720 single base substitution G A intron_variant LIRI-JP 7 11198112 11198112 single base substitution C A intron_variant LIRI-JP 7 11201608 11201608 single base substitution C T intron_variant LIRI-JP 7 11203436 11203436 single base substitution C A intron_variant LIRI-JP 7 11203772 11203772 single base substitution C A intron_variant LIRI-JP 7 11204095 11204095 single base substitution A C intron_variant LIRI-JP 7 11204969 11204969 single base substitution G A intron_variant LIRI-JP 7 11205484 11205484 single base substitution A T intron_variant LIRI-JP 7 11205972 11205972 single base substitution C T intron_variant LIRI-JP 7 11211059 11211059 single base substitution C G downstream_gene_variant LIRI-JP 7 11212112 11212112 single base substitution A G downstream_gene_variant LIRI-JP 7 11212697 11212697 single base substitution C T downstream_gene_variant LIRI-JP 7 11212846 11212846 single base substitution G T downstream_gene_variant LIRI-JP 7 11212889 11212889 single base substitution T A downstream_gene_variant LUSC-KR 7 11008524 11008524 single base substitution T A upstream_gene_variant LUSC-KR 7 11010102 11010102 single base substitution C A upstream_gene_variant LUSC-KR 7 11011840 11011840 single base substitution G C upstream_gene_variant LUSC-KR 7 11013363 11013363 single base substitution C T upstream_gene_variant LUSC-KR 7 11015779 11015779 single base substitution G A intron_variant LUSC-KR 7 11016149 11016149 single base substitution C A intron_variant LUSC-KR 7 11016587 11016587 single base substitution G C intron_variant LUSC-KR 7 11019632 11019632 single base substitution G A intron_variant LUSC-KR 7 11023783 11023783 single base substitution G T intron_variant LUSC-KR 7 11025266 11025266 single base substitution T G intron_variant LUSC-KR 7 11027557 11027557 single base substitution C T intron_variant LUSC-KR 7 11027981 11027981 single base substitution A T intron_variant LUSC-KR 7 11030517 11030517 single base substitution G T intron_variant LUSC-KR 7 11030752 11030752 single base substitution G T intron_variant LUSC-KR 7 11034583 11034583 single base substitution C T intron_variant LUSC-KR 7 11036689 11036689 single base substitution A G intron_variant LUSC-KR 7 11037788 11037788 single base substitution A T intron_variant LUSC-KR 7 11043015 11043015 single base substitution A G intron_variant LUSC-KR 7 11043273 11043273 single base substitution A G intron_variant LUSC-KR 7 11043449 11043449 single base substitution A T intron_variant LUSC-KR 7 11044002 11044002 single base substitution G T intron_variant LUSC-KR 7 11045740 11045740 single base substitution C G intron_variant LUSC-KR 7 11052896 11052896 single base substitution C G intron_variant LUSC-KR 7 11052896 11052896 single base substitution C G upstream_gene_variant LUSC-KR 7 11056194 11056194 single base substitution G C downstream_gene_variant LUSC-KR 7 11056194 11056194 single base substitution G C intron_variant LUSC-KR 7 11056231 11056231 single base substitution A T downstream_gene_variant LUSC-KR 7 11056231 11056231 single base substitution A T intron_variant LUSC-KR 7 11059083 11059083 single base substitution G T downstream_gene_variant LUSC-KR 7 11059083 11059083 single base substitution G T intron_variant LUSC-KR 7 11063018 11063018 single base substitution G A intron_variant LUSC-KR 7 11063312 11063312 single base substitution G C intron_variant LUSC-KR 7 11067253 11067253 single base substitution T C intron_variant LUSC-KR 7 11070363 11070363 single base substitution C T downstream_gene_variant LUSC-KR 7 11070363 11070363 single base substitution C T intron_variant LUSC-KR 7 11070363 11070363 single base substitution C T upstream_gene_variant LUSC-KR 7 11071194 11071194 single base substitution A G downstream_gene_variant LUSC-KR 7 11071194 11071194 single base substitution A G intron_variant LUSC-KR 7 11071194 11071194 single base substitution A G upstream_gene_variant LUSC-KR 7 11077916 11077916 single base substitution G C downstream_gene_variant LUSC-KR 7 11077916 11077916 single base substitution G C intron_variant LUSC-KR 7 11077916 11077916 single base substitution G C upstream_gene_variant LUSC-KR 7 11078490 11078490 single base substitution T G downstream_gene_variant LUSC-KR 7 11078490 11078490 single base substitution T G splice_region_variant LUSC-KR 7 11078490 11078490 single base substitution T G upstream_gene_variant LUSC-KR 7 11081216 11081216 single base substitution T G downstream_gene_variant LUSC-KR 7 11081216 11081216 single base substitution T G intron_variant LUSC-KR 7 11081216 11081216 single base substitution T G upstream_gene_variant LUSC-KR 7 11083799 11083799 single base substitution G A intron_variant LUSC-KR 7 11088827 11088827 single base substitution C T intron_variant LUSC-KR 7 11089198 11089198 single base substitution A T intron_variant LUSC-KR 7 11092851 11092851 single base substitution C G intron_variant LUSC-KR 7 11093191 11093191 single base substitution C T intron_variant LUSC-KR 7 11095412 11095412 single base substitution G T intron_variant LUSC-KR 7 11097264 11097264 single base substitution G T intron_variant LUSC-KR 7 11097264 11097264 single base substitution G T upstream_gene_variant LUSC-KR 7 11106726 11106726 single base substitution G C downstream_gene_variant LUSC-KR 7 11106726 11106726 single base substitution G C intron_variant LUSC-KR 7 11107143 11107143 single base substitution A T downstream_gene_variant LUSC-KR 7 11107143 11107143 single base substitution A T intron_variant LUSC-KR 7 11108481 11108481 single base substitution G A intron_variant LUSC-KR 7 11112011 11112011 single base substitution C T intron_variant LUSC-KR 7 11115708 11115708 single base substitution G T intron_variant LUSC-KR 7 11122496 11122496 single base substitution C T intron_variant LUSC-KR 7 11122503 11122503 single base substitution A T intron_variant LUSC-KR 7 11122589 11122589 single base substitution G A intron_variant LUSC-KR 7 11123473 11123473 single base substitution A G intron_variant LUSC-KR 7 11126647 11126647 single base substitution C G intron_variant LUSC-KR 7 11134396 11134396 single base substitution A T intron_variant LUSC-KR 7 11134639 11134639 single base substitution G C intron_variant LUSC-KR 7 11145776 11145776 single base substitution C T downstream_gene_variant LUSC-KR 7 11145776 11145776 single base substitution C T intron_variant LUSC-KR 7 11145776 11145776 single base substitution C T upstream_gene_variant LUSC-KR 7 11147469 11147469 single base substitution G T downstream_gene_variant LUSC-KR 7 11147469 11147469 single base substitution G T intron_variant LUSC-KR 7 11147469 11147469 single base substitution G T upstream_gene_variant LUSC-KR 7 11148690 11148690 single base substitution C G exon_variant LUSC-KR 7 11148690 11148690 single base substitution C G intron_variant LUSC-KR 7 11148690 11148690 single base substitution C G upstream_gene_variant LUSC-KR 7 11158810 11158810 single base substitution G A intron_variant LUSC-KR 7 11159769 11159769 single base substitution A C intron_variant LUSC-KR 7 11160054 11160054 single base substitution G A intron_variant LUSC-KR 7 11160925 11160925 single base substitution A T intron_variant LUSC-KR 7 11164905 11164905 single base substitution T A intron_variant LUSC-KR 7 11166513 11166513 single base substitution A T intron_variant LUSC-KR 7 11178640 11178640 single base substitution G C intron_variant LUSC-KR 7 11182115 11182115 single base substitution A T intron_variant LUSC-KR 7 11186217 11186217 single base substitution G C intron_variant LUSC-KR 7 11186345 11186345 single base substitution G C intron_variant LUSC-KR 7 11186454 11186454 single base substitution C T intron_variant LUSC-KR 7 11193183 11193183 single base substitution C T intron_variant LUSC-KR 7 11195632 11195632 single base substitution G T intron_variant LUSC-KR 7 11198339 11198339 single base substitution C T intron_variant LUSC-KR 7 11200179 11200179 single base substitution A T intron_variant LUSC-KR 7 11202865 11202865 single base substitution A G intron_variant LUSC-KR 7 11203108 11203108 single base substitution G T intron_variant LUSC-KR 7 11204373 11204373 single base substitution T G intron_variant LUSC-KR 7 11212990 11212990 single base substitution G T downstream_gene_variant LUSC-US 7 11022091 11022091 single base substitution G T exon_variant LUSC-US 7 11022091 11022091 single base substitution G T intron_variant LUSC-US 7 11022091 11022091 single base substitution G T stop_gained E69* 205G>T LUSC-US 7 11075331 11075331 single base substitution A G 3_prime_UTR_variant LUSC-US 7 11075331 11075331 single base substitution A G exon_variant LUSC-US 7 11075331 11075331 single base substitution A G missense_variant K222R 665A>G LUSC-US 7 11075331 11075331 single base substitution A G missense_variant K507R 1520A>G LUSC-US 7 11078410 11078410 single base substitution A G 3_prime_UTR_variant LUSC-US 7 11078410 11078410 single base substitution A G downstream_gene_variant LUSC-US 7 11078410 11078410 single base substitution A G exon_variant LUSC-US 7 11078410 11078410 single base substitution A G synonymous_variant L383L 1149A>G LUSC-US 7 11078410 11078410 single base substitution A G synonymous_variant L668L 2004A>G LUSC-US 7 11078410 11078410 single base substitution A G upstream_gene_variant LUSC-US 7 11078436 11078436 single base substitution G A 3_prime_UTR_variant LUSC-US 7 11078436 11078436 single base substitution G A downstream_gene_variant LUSC-US 7 11078436 11078436 single base substitution G A exon_variant LUSC-US 7 11078436 11078436 single base substitution G A missense_variant S392N 1175G>A LUSC-US 7 11078436 11078436 single base substitution G A missense_variant S677N 2030G>A LUSC-US 7 11078436 11078436 single base substitution G A upstream_gene_variant MALY-DE 7 11008999 11008999 single base substitution T G upstream_gene_variant MALY-DE 7 11011525 11011525 single base substitution C T upstream_gene_variant MALY-DE 7 11020449 11020449 single base substitution C T intron_variant MALY-DE 7 11030060 11030060 single base substitution G C intron_variant MALY-DE 7 11031261 11031261 single base substitution A T intron_variant MALY-DE 7 11039315 11039315 single base substitution C G intron_variant MALY-DE 7 11042791 11042791 single base substitution C T intron_variant MALY-DE 7 11043479 11043479 single base substitution T A intron_variant MALY-DE 7 11047047 11047047 single base substitution T C intron_variant MALY-DE 7 11053331 11053331 single base substitution C T intron_variant MALY-DE 7 11053331 11053331 single base substitution C T upstream_gene_variant MALY-DE 7 11053740 11053740 single base substitution A G intron_variant MALY-DE 7 11060846 11060846 single base substitution T A intron_variant MALY-DE 7 11068451 11068451 deletion of <=200bp T - downstream_gene_variant MALY-DE 7 11068451 11068451 deletion of <=200bp T - splice_region_variant MALY-DE 7 11081311 11081311 single base substitution A G downstream_gene_variant MALY-DE 7 11081311 11081311 single base substitution A G intron_variant MALY-DE 7 11081311 11081311 single base substitution A G upstream_gene_variant MALY-DE 7 11090315 11090315 single base substitution T C intron_variant MALY-DE 7 11097598 11097601 deletion of <=200bp AATT - intron_variant MALY-DE 7 11097598 11097601 deletion of <=200bp AATT - upstream_gene_variant MALY-DE 7 11102751 11102751 single base substitution T A downstream_gene_variant MALY-DE 7 11102751 11102751 single base substitution T A intron_variant MALY-DE 7 11102751 11102751 single base substitution T C downstream_gene_variant MALY-DE 7 11102751 11102751 single base substitution T C intron_variant MALY-DE 7 11108037 11108037 single base substitution A G intron_variant MALY-DE 7 11117730 11117730 single base substitution G A intron_variant MALY-DE 7 11129500 11129500 single base substitution C T intron_variant MALY-DE 7 11133474 11133474 single base substitution C G intron_variant MALY-DE 7 11142322 11142322 single base substitution G C 3_prime_UTR_variant MALY-DE 7 11142322 11142322 single base substitution G C downstream_gene_variant MALY-DE 7 11142322 11142322 single base substitution G C intron_variant MALY-DE 7 11146905 11146905 single base substitution T C downstream_gene_variant MALY-DE 7 11146905 11146905 single base substitution T C intron_variant MALY-DE 7 11146905 11146905 single base substitution T C upstream_gene_variant MALY-DE 7 11151194 11151194 single base substitution A G intron_variant MALY-DE 7 11154022 11154022 single base substitution T C intron_variant MALY-DE 7 11159905 11159905 single base substitution A C intron_variant MALY-DE 7 11161386 11161386 single base substitution A G intron_variant MALY-DE 7 11161867 11161867 single base substitution T G intron_variant MALY-DE 7 11162211 11162211 single base substitution A C intron_variant MALY-DE 7 11169260 11169260 single base substitution A C intron_variant MALY-DE 7 11188608 11188608 single base substitution T G intron_variant MALY-DE 7 11190191 11190191 single base substitution T C intron_variant MALY-DE 7 11190571 11190571 single base substitution T A intron_variant MALY-DE 7 11190581 11190581 single base substitution T G intron_variant MALY-DE 7 11201029 11201029 single base substitution T C intron_variant MALY-DE 7 11202008 11202008 single base substitution C T intron_variant MALY-DE 7 11204144 11204144 single base substitution C A intron_variant MALY-DE 7 11207977 11207977 single base substitution A C intron_variant MELA-AU 7 11008502 11008502 single base substitution G A upstream_gene_variant MELA-AU 7 11008571 11008571 single base substitution C T upstream_gene_variant MELA-AU 7 11008665 11008665 single base substitution G A upstream_gene_variant MELA-AU 7 11008734 11008734 single base substitution C T upstream_gene_variant MELA-AU 7 11008843 11008843 single base substitution G A upstream_gene_variant MELA-AU 7 11008869 11008869 single base substitution A C upstream_gene_variant MELA-AU 7 11008882 11008882 single base substitution G A upstream_gene_variant MELA-AU 7 11008914 11008914 single base substitution T C upstream_gene_variant MELA-AU 7 11009016 11009016 single base substitution C T upstream_gene_variant MELA-AU 7 11009297 11009297 single base substitution T C upstream_gene_variant MELA-AU 7 11009419 11009419 single base substitution C T upstream_gene_variant MELA-AU 7 11009533 11009533 single base substitution C T upstream_gene_variant MELA-AU 7 11009973 11009973 single base substitution G A upstream_gene_variant MELA-AU 7 11010056 11010056 single base substitution G A upstream_gene_variant MELA-AU 7 11010327 11010327 single base substitution A G upstream_gene_variant MELA-AU 7 11010356 11010356 single base substitution C T upstream_gene_variant MELA-AU 7 11010534 11010534 single base substitution C T upstream_gene_variant MELA-AU 7 11010558 11010558 single base substitution G A upstream_gene_variant MELA-AU 7 11010622 11010622 single base substitution G A upstream_gene_variant MELA-AU 7 11010632 11010632 single base substitution C T upstream_gene_variant MELA-AU 7 11010638 11010638 single base substitution G A upstream_gene_variant MELA-AU 7 11010684 11010684 single base substitution G A upstream_gene_variant MELA-AU 7 11010983 11010983 deletion of <=200bp A - upstream_gene_variant MELA-AU 7 11011105 11011105 single base substitution C T upstream_gene_variant MELA-AU 7 11011125 11011125 single base substitution C T upstream_gene_variant MELA-AU 7 11011360 11011360 single base substitution G A upstream_gene_variant MELA-AU 7 11011490 11011490 single base substitution C T upstream_gene_variant MELA-AU 7 11011937 11011937 single base substitution C T upstream_gene_variant MELA-AU 7 11012273 11012273 single base substitution A C upstream_gene_variant MELA-AU 7 11012966 11012966 single base substitution C T upstream_gene_variant MELA-AU 7 11013160 11013160 single base substitution G C upstream_gene_variant MELA-AU 7 11013264 11013264 single base substitution G A upstream_gene_variant MELA-AU 7 11013656 11013656 single base substitution T A 5_prime_UTR_variant MELA-AU 7 11013656 11013656 single base substitution T A exon_variant MELA-AU 7 11013729 11013729 single base substitution G A 5_prime_UTR_variant MELA-AU 7 11013729 11013729 single base substitution G A exon_variant MELA-AU 7 11013773 11013773 single base substitution G A 5_prime_UTR_variant MELA-AU 7 11013773 11013773 single base substitution G A exon_variant MELA-AU 7 11016107 11016107 single base substitution C T intron_variant MELA-AU 7 11016521 11016521 single base substitution G A intron_variant MELA-AU 7 11016706 11016706 single base substitution C T intron_variant MELA-AU 7 11016801 11016801 single base substitution C T intron_variant MELA-AU 7 11016994 11016994 single base substitution T C intron_variant MELA-AU 7 11017645 11017645 single base substitution C T intron_variant MELA-AU 7 11018302 11018302 single base substitution G C intron_variant MELA-AU 7 11019437 11019437 single base substitution C T intron_variant MELA-AU 7 11019457 11019457 single base substitution G A intron_variant MELA-AU 7 11019932 11019932 single base substitution T A intron_variant MELA-AU 7 11020650 11020650 single base substitution G A intron_variant MELA-AU 7 11020661 11020661 deletion of <=200bp T - intron_variant MELA-AU 7 11021110 11021110 single base substitution T C intron_variant MELA-AU 7 11022233 11022233 single base substitution A G exon_variant MELA-AU 7 11022233 11022233 single base substitution A G intron_variant MELA-AU 7 11022233 11022233 single base substitution A G missense_variant E116G 347A>G MELA-AU 7 11022566 11022566 single base substitution C T exon_variant MELA-AU 7 11022566 11022566 single base substitution C T intron_variant MELA-AU 7 11022566 11022566 single base substitution C T missense_variant S227F 680C>T MELA-AU 7 11023178 11023178 single base substitution C T intron_variant MELA-AU 7 11023875 11023875 single base substitution C T intron_variant MELA-AU 7 11024481 11024481 single base substitution G A intron_variant MELA-AU 7 11024945 11024945 single base substitution C T intron_variant MELA-AU 7 11025295 11025295 single base substitution T C intron_variant MELA-AU 7 11025483 11025483 single base substitution T C intron_variant MELA-AU 7 11025911 11025911 single base substitution C T intron_variant MELA-AU 7 11026610 11026610 single base substitution T C intron_variant MELA-AU 7 11026795 11026795 single base substitution T G intron_variant MELA-AU 7 11027304 11027304 single base substitution G T intron_variant MELA-AU 7 11027687 11027687 single base substitution C T intron_variant MELA-AU 7 11028469 11028469 single base substitution C T intron_variant MELA-AU 7 11029780 11029780 single base substitution C T intron_variant MELA-AU 7 11029808 11029808 single base substitution A G intron_variant MELA-AU 7 11030002 11030002 single base substitution C T intron_variant MELA-AU 7 11030600 11030600 single base substitution G A intron_variant MELA-AU 7 11031249 11031249 single base substitution T G intron_variant MELA-AU 7 11031308 11031308 single base substitution C T intron_variant MELA-AU 7 11031504 11031504 single base substitution C T intron_variant MELA-AU 7 11031621 11031621 single base substitution C T intron_variant MELA-AU 7 11031874 11031874 single base substitution T C intron_variant MELA-AU 7 11032066 11032066 single base substitution G T intron_variant MELA-AU 7 11032224 11032224 single base substitution A G intron_variant MELA-AU 7 11033814 11033814 single base substitution C T intron_variant MELA-AU 7 11034003 11034003 single base substitution T C intron_variant MELA-AU 7 11034213 11034213 single base substitution C T intron_variant MELA-AU 7 11034219 11034219 single base substitution T A intron_variant MELA-AU 7 11034319 11034319 single base substitution G A intron_variant MELA-AU 7 11034615 11034615 single base substitution C T intron_variant MELA-AU 7 11034694 11034694 single base substitution T C intron_variant MELA-AU 7 11034895 11034895 single base substitution C T intron_variant MELA-AU 7 11034973 11034973 single base substitution C T intron_variant MELA-AU 7 11035328 11035328 single base substitution G A intron_variant MELA-AU 7 11036979 11036979 single base substitution C T intron_variant MELA-AU 7 11037370 11037370 single base substitution C T intron_variant MELA-AU 7 11038121 11038121 single base substitution T A intron_variant MELA-AU 7 11038251 11038251 single base substitution T C intron_variant MELA-AU 7 11039347 11039347 single base substitution C T intron_variant MELA-AU 7 11039573 11039573 single base substitution C T intron_variant MELA-AU 7 11040192 11040192 single base substitution C T intron_variant MELA-AU 7 11040441 11040441 single base substitution C T intron_variant MELA-AU 7 11040671 11040671 single base substitution C T intron_variant MELA-AU 7 11040836 11040836 single base substitution C T intron_variant MELA-AU 7 11040979 11040979 single base substitution C T intron_variant MELA-AU 7 11040983 11040983 single base substitution C T intron_variant MELA-AU 7 11041797 11041797 single base substitution C T intron_variant MELA-AU 7 11042107 11042107 single base substitution C A intron_variant MELA-AU 7 11042108 11042108 single base substitution C T intron_variant MELA-AU 7 11043010 11043010 single base substitution C T intron_variant MELA-AU 7 11043456 11043456 single base substitution C T intron_variant MELA-AU 7 11044528 11044528 single base substitution C T intron_variant MELA-AU 7 11044535 11044535 single base substitution T C intron_variant MELA-AU 7 11044920 11044920 single base substitution T C intron_variant MELA-AU 7 11044974 11044974 single base substitution C T intron_variant MELA-AU 7 11044996 11044996 single base substitution C T intron_variant MELA-AU 7 11045331 11045331 single base substitution C T intron_variant MELA-AU 7 11045451 11045451 single base substitution C T intron_variant MELA-AU 7 11045542 11045543 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 11046305 11046305 single base substitution G A intron_variant MELA-AU 7 11046401 11046401 single base substitution G A intron_variant MELA-AU 7 11046726 11046727 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 11046779 11046779 single base substitution C T intron_variant MELA-AU 7 11047674 11047674 single base substitution C T intron_variant MELA-AU 7 11048046 11048046 single base substitution T G intron_variant MELA-AU 7 11048748 11048748 single base substitution A G intron_variant MELA-AU 7 11048748 11048748 single base substitution A G upstream_gene_variant MELA-AU 7 11049154 11049154 single base substitution C T intron_variant MELA-AU 7 11049154 11049154 single base substitution C T upstream_gene_variant MELA-AU 7 11049491 11049491 single base substitution G A intron_variant MELA-AU 7 11049491 11049491 single base substitution G A upstream_gene_variant MELA-AU 7 11049606 11049606 single base substitution C T intron_variant MELA-AU 7 11049606 11049606 single base substitution C T upstream_gene_variant MELA-AU 7 11049696 11049696 single base substitution C T intron_variant MELA-AU 7 11049696 11049696 single base substitution C T upstream_gene_variant MELA-AU 7 11049920 11049920 single base substitution C T intron_variant MELA-AU 7 11049920 11049920 single base substitution C T upstream_gene_variant MELA-AU 7 11050336 11050336 single base substitution T G intron_variant MELA-AU 7 11050336 11050336 single base substitution T G upstream_gene_variant MELA-AU 7 11050854 11050854 single base substitution C T intron_variant MELA-AU 7 11050854 11050854 single base substitution C T upstream_gene_variant MELA-AU 7 11050991 11050991 single base substitution C T intron_variant MELA-AU 7 11050991 11050991 single base substitution C T upstream_gene_variant MELA-AU 7 11051346 11051346 single base substitution C T intron_variant MELA-AU 7 11051346 11051346 single base substitution C T upstream_gene_variant MELA-AU 7 11051374 11051374 single base substitution T C intron_variant MELA-AU 7 11051374 11051374 single base substitution T C upstream_gene_variant MELA-AU 7 11051625 11051625 single base substitution G A intron_variant MELA-AU 7 11051625 11051625 single base substitution G A upstream_gene_variant MELA-AU 7 11051872 11051872 single base substitution C T intron_variant MELA-AU 7 11051872 11051872 single base substitution C T upstream_gene_variant MELA-AU 7 11052033 11052033 single base substitution G C intron_variant MELA-AU 7 11052033 11052033 single base substitution G C upstream_gene_variant MELA-AU 7 11052313 11052313 single base substitution T C intron_variant MELA-AU 7 11052313 11052313 single base substitution T C upstream_gene_variant MELA-AU 7 11052351 11052351 single base substitution C T intron_variant MELA-AU 7 11052351 11052351 single base substitution C T upstream_gene_variant MELA-AU 7 11052413 11052413 single base substitution C T intron_variant MELA-AU 7 11052413 11052413 single base substitution C T upstream_gene_variant MELA-AU 7 11053513 11053513 single base substitution C T 3_prime_UTR_variant MELA-AU 7 11053513 11053513 single base substitution C T exon_variant MELA-AU 7 11053513 11053513 single base substitution C T synonymous_variant F110F 330C>T MELA-AU 7 11053513 11053513 single base substitution C T synonymous_variant F395F 1185C>T MELA-AU 7 11054118 11054118 single base substitution C T intron_variant MELA-AU 7 11054222 11054222 single base substitution G A intron_variant MELA-AU 7 11054256 11054256 single base substitution C T intron_variant MELA-AU 7 11054273 11054273 single base substitution C A intron_variant MELA-AU 7 11054859 11054859 single base substitution C T downstream_gene_variant MELA-AU 7 11054859 11054859 single base substitution C T intron_variant MELA-AU 7 11054897 11054897 single base substitution C T downstream_gene_variant MELA-AU 7 11054897 11054897 single base substitution C T intron_variant MELA-AU 7 11055266 11055266 single base substitution G A downstream_gene_variant MELA-AU 7 11055266 11055266 single base substitution G A intron_variant MELA-AU 7 11055488 11055488 single base substitution A T downstream_gene_variant MELA-AU 7 11055488 11055488 single base substitution A T intron_variant MELA-AU 7 11055865 11055865 single base substitution C T downstream_gene_variant MELA-AU 7 11055865 11055865 single base substitution C T intron_variant MELA-AU 7 11055929 11055929 single base substitution C T downstream_gene_variant MELA-AU 7 11055929 11055929 single base substitution C T intron_variant MELA-AU 7 11056049 11056049 single base substitution C T downstream_gene_variant MELA-AU 7 11056049 11056049 single base substitution C T intron_variant MELA-AU 7 11056494 11056494 single base substitution C T downstream_gene_variant MELA-AU 7 11056494 11056494 single base substitution C T intron_variant MELA-AU 7 11056522 11056522 single base substitution C T downstream_gene_variant MELA-AU 7 11056522 11056522 single base substitution C T intron_variant MELA-AU 7 11056892 11056892 single base substitution C T downstream_gene_variant MELA-AU 7 11056892 11056892 single base substitution C T intron_variant MELA-AU 7 11056991 11056991 single base substitution T C downstream_gene_variant MELA-AU 7 11056991 11056991 single base substitution T C intron_variant MELA-AU 7 11057231 11057231 single base substitution A G downstream_gene_variant MELA-AU 7 11057231 11057231 single base substitution A G intron_variant MELA-AU 7 11057397 11057397 single base substitution G A downstream_gene_variant MELA-AU 7 11057397 11057397 single base substitution G A intron_variant MELA-AU 7 11057468 11057468 single base substitution C A downstream_gene_variant MELA-AU 7 11057468 11057468 single base substitution C A intron_variant MELA-AU 7 11057737 11057737 single base substitution C T downstream_gene_variant MELA-AU 7 11057737 11057737 single base substitution C T intron_variant MELA-AU 7 11058243 11058243 single base substitution T A downstream_gene_variant MELA-AU 7 11058243 11058243 single base substitution T A intron_variant MELA-AU 7 11058331 11058331 single base substitution C T downstream_gene_variant MELA-AU 7 11058331 11058331 single base substitution C T intron_variant MELA-AU 7 11058887 11058887 single base substitution G A downstream_gene_variant MELA-AU 7 11058887 11058887 single base substitution G A intron_variant MELA-AU 7 11059046 11059046 single base substitution C T downstream_gene_variant MELA-AU 7 11059046 11059046 single base substitution C T intron_variant MELA-AU 7 11059721 11059721 single base substitution T A downstream_gene_variant MELA-AU 7 11059721 11059721 single base substitution T A intron_variant MELA-AU 7 11059808 11059808 single base substitution T C downstream_gene_variant MELA-AU 7 11059808 11059808 single base substitution T C intron_variant MELA-AU 7 11059945 11059945 single base substitution G A intron_variant MELA-AU 7 11060360 11060360 single base substitution C T intron_variant MELA-AU 7 11060427 11060427 single base substitution G T intron_variant MELA-AU 7 11060863 11060863 single base substitution C T intron_variant MELA-AU 7 11061111 11061111 single base substitution G A intron_variant MELA-AU 7 11061416 11061416 single base substitution C T intron_variant MELA-AU 7 11061459 11061459 single base substitution C T intron_variant MELA-AU 7 11062142 11062142 single base substitution C A intron_variant MELA-AU 7 11063051 11063051 single base substitution T C intron_variant MELA-AU 7 11064212 11064212 single base substitution C T intron_variant MELA-AU 7 11064295 11064295 single base substitution G T intron_variant MELA-AU 7 11064908 11064908 single base substitution T C intron_variant MELA-AU 7 11065080 11065080 single base substitution C T intron_variant MELA-AU 7 11065114 11065114 single base substitution C T intron_variant MELA-AU 7 11065169 11065169 single base substitution C T intron_variant MELA-AU 7 11065492 11065492 single base substitution A G intron_variant MELA-AU 7 11065520 11065520 single base substitution C T intron_variant MELA-AU 7 11065738 11065738 single base substitution A T intron_variant MELA-AU 7 11066666 11066666 single base substitution G A intron_variant MELA-AU 7 11066751 11066751 single base substitution C T intron_variant MELA-AU 7 11066989 11066989 single base substitution C T intron_variant MELA-AU 7 11068303 11068303 single base substitution T G intron_variant MELA-AU 7 11068303 11068303 single base substitution T G splice_region_variant MELA-AU 7 11068766 11068766 single base substitution G A downstream_gene_variant MELA-AU 7 11068766 11068766 single base substitution G A intron_variant MELA-AU 7 11068952 11068952 single base substitution C T downstream_gene_variant MELA-AU 7 11068952 11068952 single base substitution C T intron_variant MELA-AU 7 11069328 11069328 single base substitution C T downstream_gene_variant MELA-AU 7 11069328 11069328 single base substitution C T intron_variant MELA-AU 7 11069547 11069547 single base substitution C T downstream_gene_variant MELA-AU 7 11069547 11069547 single base substitution C T intron_variant MELA-AU 7 11070046 11070046 single base substitution C T downstream_gene_variant MELA-AU 7 11070046 11070046 single base substitution C T intron_variant MELA-AU 7 11070399 11070399 single base substitution C T downstream_gene_variant MELA-AU 7 11070399 11070399 single base substitution C T intron_variant MELA-AU 7 11070399 11070399 single base substitution C T upstream_gene_variant MELA-AU 7 11070436 11070436 single base substitution G A downstream_gene_variant MELA-AU 7 11070436 11070436 single base substitution G A intron_variant MELA-AU 7 11070436 11070436 single base substitution G A upstream_gene_variant MELA-AU 7 11070557 11070557 single base substitution C T downstream_gene_variant MELA-AU 7 11070557 11070557 single base substitution C T intron_variant MELA-AU 7 11070557 11070557 single base substitution C T upstream_gene_variant MELA-AU 7 11070847 11070847 single base substitution A T downstream_gene_variant MELA-AU 7 11070847 11070847 single base substitution A T intron_variant MELA-AU 7 11070847 11070847 single base substitution A T upstream_gene_variant MELA-AU 7 11070963 11070963 single base substitution C T downstream_gene_variant MELA-AU 7 11070963 11070963 single base substitution C T intron_variant MELA-AU 7 11070963 11070963 single base substitution C T upstream_gene_variant MELA-AU 7 11071144 11071144 single base substitution C T downstream_gene_variant MELA-AU 7 11071144 11071144 single base substitution C T intron_variant MELA-AU 7 11071144 11071144 single base substitution C T upstream_gene_variant MELA-AU 7 11072196 11072196 single base substitution C T downstream_gene_variant MELA-AU 7 11072196 11072196 single base substitution C T intron_variant MELA-AU 7 11072196 11072196 single base substitution C T upstream_gene_variant MELA-AU 7 11072407 11072407 single base substitution T C downstream_gene_variant MELA-AU 7 11072407 11072407 single base substitution T C intron_variant MELA-AU 7 11072407 11072407 single base substitution T C upstream_gene_variant MELA-AU 7 11072479 11072480 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 11072479 11072480 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 11072479 11072480 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 11072699 11072699 single base substitution C T downstream_gene_variant MELA-AU 7 11072699 11072699 single base substitution C T intron_variant MELA-AU 7 11072699 11072699 single base substitution C T upstream_gene_variant MELA-AU 7 11072883 11072883 single base substitution T G downstream_gene_variant MELA-AU 7 11072883 11072883 single base substitution T G intron_variant MELA-AU 7 11072883 11072883 single base substitution T G upstream_gene_variant MELA-AU 7 11072884 11072884 single base substitution C T downstream_gene_variant MELA-AU 7 11072884 11072884 single base substitution C T intron_variant MELA-AU 7 11072884 11072884 single base substitution C T upstream_gene_variant MELA-AU 7 11073058 11073058 single base substitution G A downstream_gene_variant MELA-AU 7 11073058 11073058 single base substitution G A intron_variant MELA-AU 7 11073058 11073058 single base substitution G A upstream_gene_variant MELA-AU 7 11076480 11076480 single base substitution C T downstream_gene_variant MELA-AU 7 11076480 11076480 single base substitution C T intron_variant MELA-AU 7 11076641 11076641 single base substitution G A 3_prime_UTR_variant MELA-AU 7 11076641 11076641 single base substitution G A downstream_gene_variant MELA-AU 7 11076641 11076641 single base substitution G A exon_variant MELA-AU 7 11076641 11076641 single base substitution G A missense_variant E350K 1048G>A MELA-AU 7 11076641 11076641 single base substitution G A missense_variant E635K 1903G>A MELA-AU 7 11076983 11076984 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 7 11076983 11076984 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 7 11077234 11077234 single base substitution C T downstream_gene_variant MELA-AU 7 11077234 11077234 single base substitution C T intron_variant MELA-AU 7 11078082 11078082 single base substitution C T downstream_gene_variant MELA-AU 7 11078082 11078082 single base substitution C T intron_variant MELA-AU 7 11078082 11078082 single base substitution C T upstream_gene_variant MELA-AU 7 11079424 11079424 single base substitution G A downstream_gene_variant MELA-AU 7 11079424 11079424 single base substitution G A intron_variant MELA-AU 7 11079424 11079424 single base substitution G A upstream_gene_variant MELA-AU 7 11079487 11079487 single base substitution G A downstream_gene_variant MELA-AU 7 11079487 11079487 single base substitution G A intron_variant MELA-AU 7 11079487 11079487 single base substitution G A upstream_gene_variant MELA-AU 7 11079699 11079699 single base substitution A T downstream_gene_variant MELA-AU 7 11079699 11079699 single base substitution A T intron_variant MELA-AU 7 11079699 11079699 single base substitution A T upstream_gene_variant MELA-AU 7 11080261 11080261 single base substitution C T downstream_gene_variant MELA-AU 7 11080261 11080261 single base substitution C T intron_variant MELA-AU 7 11080261 11080261 single base substitution C T upstream_gene_variant MELA-AU 7 11080358 11080359 multiple base substitution (>=2bp and <=200bp) AG TA 3_prime_UTR_variant MELA-AU 7 11080358 11080359 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 7 11080358 11080359 multiple base substitution (>=2bp and <=200bp) AG TA exon_variant MELA-AU 7 11080358 11080359 multiple base substitution (>=2bp and <=200bp) AG TA missense_variant EG427DR MELA-AU 7 11080358 11080359 multiple base substitution (>=2bp and <=200bp) AG TA missense_variant EG712DR MELA-AU 7 11080358 11080359 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 7 11080476 11080476 single base substitution C T downstream_gene_variant MELA-AU 7 11080476 11080476 single base substitution C T intron_variant MELA-AU 7 11080476 11080476 single base substitution C T upstream_gene_variant MELA-AU 7 11080603 11080603 single base substitution C T downstream_gene_variant MELA-AU 7 11080603 11080603 single base substitution C T intron_variant MELA-AU 7 11080603 11080603 single base substitution C T upstream_gene_variant MELA-AU 7 11080754 11080754 single base substitution A T downstream_gene_variant MELA-AU 7 11080754 11080754 single base substitution A T intron_variant MELA-AU 7 11080754 11080754 single base substitution A T upstream_gene_variant MELA-AU 7 11081065 11081065 single base substitution G A downstream_gene_variant MELA-AU 7 11081065 11081065 single base substitution G A intron_variant MELA-AU 7 11081065 11081065 single base substitution G A upstream_gene_variant MELA-AU 7 11081488 11081488 insertion of <=200bp - GT intron_variant MELA-AU 7 11081488 11081488 insertion of <=200bp - GT upstream_gene_variant MELA-AU 7 11081558 11081558 single base substitution T A intron_variant MELA-AU 7 11081558 11081558 single base substitution T A upstream_gene_variant MELA-AU 7 11081793 11081793 single base substitution C T intron_variant MELA-AU 7 11081793 11081793 single base substitution C T upstream_gene_variant MELA-AU 7 11081943 11081943 single base substitution C T intron_variant MELA-AU 7 11081943 11081943 single base substitution C T upstream_gene_variant MELA-AU 7 11082549 11082549 single base substitution A T intron_variant MELA-AU 7 11083350 11083350 single base substitution T C intron_variant MELA-AU 7 11083733 11083733 single base substitution T A intron_variant MELA-AU 7 11084141 11084141 single base substitution C T intron_variant MELA-AU 7 11084235 11084235 single base substitution C T intron_variant MELA-AU 7 11084909 11084909 single base substitution C T intron_variant MELA-AU 7 11084916 11084916 single base substitution T C intron_variant MELA-AU 7 11084933 11084933 single base substitution C T intron_variant MELA-AU 7 11085386 11085386 single base substitution C T intron_variant MELA-AU 7 11085835 11085835 single base substitution C T intron_variant MELA-AU 7 11085991 11085991 single base substitution C T intron_variant MELA-AU 7 11086058 11086058 single base substitution C T intron_variant MELA-AU 7 11086100 11086100 single base substitution C T intron_variant MELA-AU 7 11086805 11086805 single base substitution C T intron_variant MELA-AU 7 11086830 11086831 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 11086887 11086887 single base substitution G A intron_variant MELA-AU 7 11087037 11087037 single base substitution C G intron_variant MELA-AU 7 11087063 11087063 single base substitution C T intron_variant MELA-AU 7 11087290 11087290 single base substitution C T intron_variant MELA-AU 7 11087942 11087942 single base substitution G A intron_variant MELA-AU 7 11087980 11087980 single base substitution C T intron_variant MELA-AU 7 11088511 11088511 single base substitution T C intron_variant MELA-AU 7 11088985 11088985 single base substitution C T intron_variant MELA-AU 7 11089839 11089839 single base substitution G A intron_variant MELA-AU 7 11090085 11090085 single base substitution C A intron_variant MELA-AU 7 11090409 11090409 single base substitution C T intron_variant MELA-AU 7 11090432 11090432 single base substitution C T intron_variant MELA-AU 7 11090435 11090435 single base substitution C A intron_variant MELA-AU 7 11091014 11091014 single base substitution T C intron_variant MELA-AU 7 11091229 11091229 single base substitution C T intron_variant MELA-AU 7 11092437 11092437 single base substitution C T intron_variant MELA-AU 7 11092936 11092936 single base substitution C T intron_variant MELA-AU 7 11093068 11093068 single base substitution G A intron_variant MELA-AU 7 11093191 11093191 single base substitution C T intron_variant MELA-AU 7 11094042 11094042 single base substitution C T intron_variant MELA-AU 7 11094043 11094043 single base substitution C T intron_variant MELA-AU 7 11094493 11094493 single base substitution C T intron_variant MELA-AU 7 11095108 11095108 single base substitution C T intron_variant MELA-AU 7 11097061 11097061 single base substitution G A intron_variant MELA-AU 7 11097061 11097061 single base substitution G A upstream_gene_variant MELA-AU 7 11097246 11097246 single base substitution C T intron_variant MELA-AU 7 11097246 11097246 single base substitution C T upstream_gene_variant MELA-AU 7 11097296 11097296 single base substitution C T intron_variant MELA-AU 7 11097296 11097296 single base substitution C T upstream_gene_variant MELA-AU 7 11097393 11097393 single base substitution C T intron_variant MELA-AU 7 11097393 11097393 single base substitution C T upstream_gene_variant MELA-AU 7 11097483 11097483 single base substitution C T intron_variant MELA-AU 7 11097483 11097483 single base substitution C T upstream_gene_variant MELA-AU 7 11097705 11097705 single base substitution C T intron_variant MELA-AU 7 11097705 11097705 single base substitution C T upstream_gene_variant MELA-AU 7 11097870 11097870 single base substitution C T intron_variant MELA-AU 7 11097870 11097870 single base substitution C T upstream_gene_variant MELA-AU 7 11098041 11098041 single base substitution C T intron_variant MELA-AU 7 11098041 11098041 single base substitution C T upstream_gene_variant MELA-AU 7 11098070 11098070 single base substitution G A intron_variant MELA-AU 7 11098070 11098070 single base substitution G A upstream_gene_variant MELA-AU 7 11098832 11098832 single base substitution C T intron_variant MELA-AU 7 11098832 11098832 single base substitution C T upstream_gene_variant MELA-AU 7 11099072 11099072 single base substitution C T intron_variant MELA-AU 7 11099072 11099072 single base substitution C T upstream_gene_variant MELA-AU 7 11099073 11099073 single base substitution A T intron_variant MELA-AU 7 11099073 11099073 single base substitution A T upstream_gene_variant MELA-AU 7 11099403 11099403 single base substitution A T intron_variant MELA-AU 7 11099403 11099403 single base substitution A T upstream_gene_variant MELA-AU 7 11099843 11099843 single base substitution C T intron_variant MELA-AU 7 11099843 11099843 single base substitution C T upstream_gene_variant MELA-AU 7 11101742 11101742 single base substitution G A exon_variant MELA-AU 7 11101742 11101742 single base substitution G A intron_variant MELA-AU 7 11102197 11102198 deletion of <=200bp AC - exon_variant MELA-AU 7 11102197 11102198 deletion of <=200bp AC - intron_variant MELA-AU 7 11102268 11102268 single base substitution C T downstream_gene_variant MELA-AU 7 11102268 11102268 single base substitution C T exon_variant MELA-AU 7 11102268 11102268 single base substitution C T intron_variant MELA-AU 7 11103002 11103002 single base substitution C T downstream_gene_variant MELA-AU 7 11103002 11103002 single base substitution C T intron_variant MELA-AU 7 11103102 11103102 single base substitution C T downstream_gene_variant MELA-AU 7 11103102 11103102 single base substitution C T intron_variant MELA-AU 7 11103748 11103748 single base substitution A G downstream_gene_variant MELA-AU 7 11103748 11103748 single base substitution A G intron_variant MELA-AU 7 11103859 11103859 single base substitution C A downstream_gene_variant MELA-AU 7 11103859 11103859 single base substitution C A intron_variant MELA-AU 7 11103983 11103983 single base substitution T C downstream_gene_variant MELA-AU 7 11103983 11103983 single base substitution T C intron_variant MELA-AU 7 11104042 11104043 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 7 11104042 11104043 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 7 11104920 11104920 single base substitution C T downstream_gene_variant MELA-AU 7 11104920 11104920 single base substitution C T intron_variant MELA-AU 7 11105024 11105024 single base substitution G A downstream_gene_variant MELA-AU 7 11105024 11105024 single base substitution G A intron_variant MELA-AU 7 11105414 11105414 single base substitution T C downstream_gene_variant MELA-AU 7 11105414 11105414 single base substitution T C intron_variant MELA-AU 7 11105638 11105638 single base substitution C T downstream_gene_variant MELA-AU 7 11105638 11105638 single base substitution C T intron_variant MELA-AU 7 11105879 11105879 single base substitution C T downstream_gene_variant MELA-AU 7 11105879 11105879 single base substitution C T intron_variant MELA-AU 7 11105919 11105919 single base substitution C T downstream_gene_variant MELA-AU 7 11105919 11105919 single base substitution C T intron_variant MELA-AU 7 11106089 11106090 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 11106089 11106090 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 11106749 11106749 single base substitution G A downstream_gene_variant MELA-AU 7 11106749 11106749 single base substitution G A intron_variant MELA-AU 7 11107523 11107523 single base substitution G A downstream_gene_variant MELA-AU 7 11107523 11107523 single base substitution G A intron_variant MELA-AU 7 11107587 11107587 single base substitution C T downstream_gene_variant MELA-AU 7 11107587 11107587 single base substitution C T intron_variant MELA-AU 7 11107669 11107669 single base substitution C T downstream_gene_variant MELA-AU 7 11107669 11107669 single base substitution C T intron_variant MELA-AU 7 11107701 11107701 single base substitution G A intron_variant MELA-AU 7 11107725 11107725 single base substitution C T intron_variant MELA-AU 7 11107736 11107737 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 11108149 11108149 single base substitution C T intron_variant MELA-AU 7 11108301 11108301 single base substitution T C intron_variant MELA-AU 7 11108783 11108783 single base substitution C T intron_variant MELA-AU 7 11109038 11109038 single base substitution G A intron_variant MELA-AU 7 11109463 11109463 single base substitution A T intron_variant MELA-AU 7 11109706 11109706 single base substitution C T intron_variant MELA-AU 7 11109881 11109881 single base substitution C T intron_variant MELA-AU 7 11109962 11109962 single base substitution C T intron_variant MELA-AU 7 11110402 11110402 single base substitution C A intron_variant MELA-AU 7 11110495 11110496 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 7 11110787 11110787 single base substitution C G intron_variant MELA-AU 7 11111162 11111162 single base substitution G A intron_variant MELA-AU 7 11111213 11111213 single base substitution C A intron_variant MELA-AU 7 11111673 11111673 single base substitution C T intron_variant MELA-AU 7 11111696 11111696 single base substitution C T intron_variant MELA-AU 7 11112006 11112006 single base substitution A G intron_variant MELA-AU 7 11112172 11112172 single base substitution C T intron_variant MELA-AU 7 11112588 11112588 single base substitution A T intron_variant MELA-AU 7 11112850 11112850 single base substitution G C intron_variant MELA-AU 7 11113025 11113025 single base substitution C T intron_variant MELA-AU 7 11113063 11113063 single base substitution C T intron_variant MELA-AU 7 11113313 11113313 single base substitution C T intron_variant MELA-AU 7 11113515 11113515 single base substitution G A intron_variant MELA-AU 7 11113721 11113721 single base substitution C T intron_variant MELA-AU 7 11113733 11113733 single base substitution T G intron_variant MELA-AU 7 11113825 11113825 single base substitution C T intron_variant MELA-AU 7 11114147 11114147 single base substitution C T intron_variant MELA-AU 7 11114163 11114163 single base substitution C T intron_variant MELA-AU 7 11114320 11114320 single base substitution C T intron_variant MELA-AU 7 11115578 11115578 single base substitution G A intron_variant MELA-AU 7 11115690 11115690 single base substitution C T intron_variant MELA-AU 7 11115720 11115720 single base substitution C T intron_variant MELA-AU 7 11115927 11115927 single base substitution C T intron_variant MELA-AU 7 11116236 11116236 single base substitution C A intron_variant MELA-AU 7 11116682 11116682 single base substitution T A intron_variant MELA-AU 7 11116699 11116699 single base substitution T C intron_variant MELA-AU 7 11116946 11116946 single base substitution C T intron_variant MELA-AU 7 11117070 11117070 single base substitution A T intron_variant MELA-AU 7 11117530 11117530 single base substitution A C intron_variant MELA-AU 7 11117975 11117975 single base substitution C T intron_variant MELA-AU 7 11118384 11118384 single base substitution T A intron_variant MELA-AU 7 11118642 11118642 single base substitution T A intron_variant MELA-AU 7 11119744 11119744 single base substitution C T intron_variant MELA-AU 7 11120627 11120627 single base substitution C T intron_variant MELA-AU 7 11121084 11121084 single base substitution A C intron_variant MELA-AU 7 11121127 11121127 single base substitution C T intron_variant MELA-AU 7 11122062 11122062 single base substitution C T intron_variant MELA-AU 7 11122148 11122148 single base substitution C T intron_variant MELA-AU 7 11122389 11122389 single base substitution T A intron_variant MELA-AU 7 11122515 11122515 single base substitution C T intron_variant MELA-AU 7 11122663 11122663 single base substitution C T intron_variant MELA-AU 7 11122882 11122882 single base substitution C T intron_variant MELA-AU 7 11122962 11122962 single base substitution C T intron_variant MELA-AU 7 11123030 11123030 single base substitution C T intron_variant MELA-AU 7 11123320 11123320 single base substitution C T intron_variant MELA-AU 7 11123336 11123336 single base substitution C T intron_variant MELA-AU 7 11123393 11123393 single base substitution C T intron_variant MELA-AU 7 11125196 11125196 single base substitution C T intron_variant MELA-AU 7 11125208 11125208 single base substitution C T intron_variant MELA-AU 7 11125857 11125857 single base substitution C T intron_variant MELA-AU 7 11126202 11126202 single base substitution C T intron_variant MELA-AU 7 11126713 11126713 single base substitution C T intron_variant MELA-AU 7 11128049 11128049 single base substitution A G intron_variant MELA-AU 7 11128192 11128192 single base substitution C T intron_variant MELA-AU 7 11128220 11128220 single base substitution C T intron_variant MELA-AU 7 11128635 11128635 single base substitution A T intron_variant MELA-AU 7 11128766 11128766 single base substitution A G intron_variant MELA-AU 7 11129198 11129198 single base substitution C T intron_variant MELA-AU 7 11129546 11129546 single base substitution G A intron_variant MELA-AU 7 11129761 11129761 single base substitution C T intron_variant MELA-AU 7 11130297 11130297 single base substitution C T intron_variant MELA-AU 7 11130399 11130399 single base substitution G A intron_variant MELA-AU 7 11130868 11130868 single base substitution T A intron_variant MELA-AU 7 11131413 11131413 single base substitution G T intron_variant MELA-AU 7 11131506 11131506 single base substitution G A intron_variant MELA-AU 7 11131807 11131807 single base substitution C T intron_variant MELA-AU 7 11132032 11132032 single base substitution T A intron_variant MELA-AU 7 11132064 11132064 single base substitution G A intron_variant MELA-AU 7 11132717 11132717 single base substitution C T intron_variant MELA-AU 7 11132789 11132789 single base substitution C T intron_variant MELA-AU 7 11133387 11133387 single base substitution T C intron_variant MELA-AU 7 11133759 11133759 single base substitution C T intron_variant MELA-AU 7 11133885 11133885 single base substitution C T intron_variant MELA-AU 7 11133918 11133918 single base substitution T G intron_variant MELA-AU 7 11134524 11134524 single base substitution T G intron_variant MELA-AU 7 11135392 11135392 single base substitution C T intron_variant MELA-AU 7 11135461 11135461 single base substitution G A intron_variant MELA-AU 7 11135769 11135769 single base substitution C T intron_variant MELA-AU 7 11135856 11135856 single base substitution C T intron_variant MELA-AU 7 11136178 11136178 single base substitution C T intron_variant MELA-AU 7 11136647 11136648 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 11136730 11136730 single base substitution C T intron_variant MELA-AU 7 11136885 11136885 single base substitution C G intron_variant MELA-AU 7 11137682 11137682 single base substitution A T intron_variant MELA-AU 7 11138135 11138135 single base substitution C T intron_variant MELA-AU 7 11138875 11138875 single base substitution T C intron_variant MELA-AU 7 11139022 11139023 multiple base substitution (>=2bp and <=200bp) TT AG intron_variant MELA-AU 7 11139898 11139898 single base substitution C T intron_variant MELA-AU 7 11140151 11140151 single base substitution T C intron_variant MELA-AU 7 11141691 11141691 single base substitution C T intron_variant MELA-AU 7 11141790 11141790 single base substitution C T intron_variant MELA-AU 7 11142068 11142068 single base substitution G A intron_variant MELA-AU 7 11142149 11142149 single base substitution C T 3_prime_UTR_variant MELA-AU 7 11142149 11142149 single base substitution C T intron_variant MELA-AU 7 11142173 11142173 single base substitution C T 3_prime_UTR_variant MELA-AU 7 11142173 11142173 single base substitution C T intron_variant MELA-AU 7 11142249 11142249 single base substitution G A 3_prime_UTR_variant MELA-AU 7 11142249 11142249 single base substitution G A intron_variant MELA-AU 7 11142491 11142491 single base substitution C T 3_prime_UTR_variant MELA-AU 7 11142491 11142491 single base substitution C T downstream_gene_variant MELA-AU 7 11142491 11142491 single base substitution C T intron_variant MELA-AU 7 11142588 11142588 single base substitution G C 3_prime_UTR_variant MELA-AU 7 11142588 11142588 single base substitution G C downstream_gene_variant MELA-AU 7 11142588 11142588 single base substitution G C intron_variant MELA-AU 7 11142802 11142802 single base substitution C T 3_prime_UTR_variant MELA-AU 7 11142802 11142802 single base substitution C T downstream_gene_variant MELA-AU 7 11142802 11142802 single base substitution C T intron_variant MELA-AU 7 11143207 11143207 single base substitution G T 3_prime_UTR_variant MELA-AU 7 11143207 11143207 single base substitution G T downstream_gene_variant MELA-AU 7 11143207 11143207 single base substitution G T exon_variant MELA-AU 7 11143207 11143207 single base substitution G T intron_variant MELA-AU 7 11143207 11143207 single base substitution G T upstream_gene_variant MELA-AU 7 11143621 11143621 single base substitution G A downstream_gene_variant MELA-AU 7 11143621 11143621 single base substitution G A intron_variant MELA-AU 7 11143621 11143621 single base substitution G A upstream_gene_variant MELA-AU 7 11144151 11144151 single base substitution T A downstream_gene_variant MELA-AU 7 11144151 11144151 single base substitution T A intron_variant MELA-AU 7 11144151 11144151 single base substitution T A upstream_gene_variant MELA-AU 7 11144368 11144368 single base substitution C T downstream_gene_variant MELA-AU 7 11144368 11144368 single base substitution C T intron_variant MELA-AU 7 11144368 11144368 single base substitution C T upstream_gene_variant MELA-AU 7 11144389 11144389 single base substitution C T downstream_gene_variant MELA-AU 7 11144389 11144389 single base substitution C T intron_variant MELA-AU 7 11144389 11144389 single base substitution C T upstream_gene_variant MELA-AU 7 11144752 11144752 single base substitution C T downstream_gene_variant MELA-AU 7 11144752 11144752 single base substitution C T intron_variant MELA-AU 7 11144752 11144752 single base substitution C T upstream_gene_variant MELA-AU 7 11145465 11145465 single base substitution G A downstream_gene_variant MELA-AU 7 11145465 11145465 single base substitution G A intron_variant MELA-AU 7 11145465 11145465 single base substitution G A upstream_gene_variant MELA-AU 7 11145597 11145597 single base substitution T C downstream_gene_variant MELA-AU 7 11145597 11145597 single base substitution T C intron_variant MELA-AU 7 11145597 11145597 single base substitution T C upstream_gene_variant MELA-AU 7 11145647 11145647 single base substitution T A downstream_gene_variant MELA-AU 7 11145647 11145647 single base substitution T A intron_variant MELA-AU 7 11145647 11145647 single base substitution T A upstream_gene_variant MELA-AU 7 11146356 11146356 single base substitution A G downstream_gene_variant MELA-AU 7 11146356 11146356 single base substitution A G intron_variant MELA-AU 7 11146356 11146356 single base substitution A G upstream_gene_variant MELA-AU 7 11147853 11147854 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 7 11147853 11147854 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 7 11147853 11147854 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant MELA-AU 7 11148133 11148133 single base substitution C T downstream_gene_variant MELA-AU 7 11148133 11148133 single base substitution C T intron_variant MELA-AU 7 11148133 11148133 single base substitution C T upstream_gene_variant MELA-AU 7 11148133 11148134 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 11148133 11148134 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 11148133 11148134 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 11148526 11148526 single base substitution A T exon_variant MELA-AU 7 11148526 11148526 single base substitution A T intron_variant MELA-AU 7 11148526 11148526 single base substitution A T upstream_gene_variant MELA-AU 7 11148645 11148645 single base substitution G A exon_variant MELA-AU 7 11148645 11148645 single base substitution G A intron_variant MELA-AU 7 11148645 11148645 single base substitution G A upstream_gene_variant MELA-AU 7 11148732 11148732 single base substitution C T exon_variant MELA-AU 7 11148732 11148732 single base substitution C T intron_variant MELA-AU 7 11148732 11148732 single base substitution C T upstream_gene_variant MELA-AU 7 11148944 11148944 single base substitution C T exon_variant MELA-AU 7 11148944 11148944 single base substitution C T intron_variant MELA-AU 7 11148944 11148944 single base substitution C T upstream_gene_variant MELA-AU 7 11148956 11148956 single base substitution C T exon_variant MELA-AU 7 11148956 11148956 single base substitution C T intron_variant MELA-AU 7 11148956 11148956 single base substitution C T upstream_gene_variant MELA-AU 7 11149667 11149667 single base substitution C T exon_variant MELA-AU 7 11149667 11149667 single base substitution C T intron_variant MELA-AU 7 11149667 11149667 single base substitution C T upstream_gene_variant MELA-AU 7 11149811 11149811 single base substitution C T exon_variant MELA-AU 7 11149811 11149811 single base substitution C T intron_variant MELA-AU 7 11149811 11149811 single base substitution C T upstream_gene_variant MELA-AU 7 11150272 11150272 single base substitution C T intron_variant MELA-AU 7 11150272 11150272 single base substitution C T upstream_gene_variant MELA-AU 7 11151120 11151120 single base substitution G T intron_variant MELA-AU 7 11151150 11151150 single base substitution C T intron_variant MELA-AU 7 11151558 11151558 single base substitution C T intron_variant MELA-AU 7 11151770 11151770 single base substitution T C intron_variant MELA-AU 7 11152181 11152181 single base substitution G A intron_variant MELA-AU 7 11152446 11152446 single base substitution T G intron_variant MELA-AU 7 11152649 11152649 single base substitution T A intron_variant MELA-AU 7 11153230 11153230 single base substitution A T intron_variant MELA-AU 7 11153832 11153832 single base substitution C T intron_variant MELA-AU 7 11154807 11154807 single base substitution C T intron_variant MELA-AU 7 11155219 11155219 single base substitution C T intron_variant MELA-AU 7 11155404 11155404 single base substitution C T intron_variant MELA-AU 7 11155415 11155415 single base substitution C T intron_variant MELA-AU 7 11155479 11155479 single base substitution C T intron_variant MELA-AU 7 11156125 11156125 single base substitution C T intron_variant MELA-AU 7 11156738 11156738 single base substitution C T intron_variant MELA-AU 7 11157186 11157186 single base substitution T C intron_variant MELA-AU 7 11157265 11157265 single base substitution T C intron_variant MELA-AU 7 11157272 11157272 single base substitution A G intron_variant MELA-AU 7 11157396 11157396 single base substitution T C intron_variant MELA-AU 7 11157467 11157467 single base substitution T C intron_variant MELA-AU 7 11158264 11158264 single base substitution C T intron_variant MELA-AU 7 11158817 11158817 deletion of <=200bp A - intron_variant MELA-AU 7 11159033 11159033 single base substitution C T intron_variant MELA-AU 7 11159185 11159185 single base substitution C T intron_variant MELA-AU 7 11159348 11159348 single base substitution C T intron_variant MELA-AU 7 11159449 11159449 single base substitution A G intron_variant MELA-AU 7 11159518 11159518 single base substitution G A intron_variant MELA-AU 7 11159530 11159530 single base substitution C T intron_variant MELA-AU 7 11160249 11160249 single base substitution C T intron_variant MELA-AU 7 11161081 11161081 single base substitution C T intron_variant MELA-AU 7 11161631 11161631 single base substitution C T intron_variant MELA-AU 7 11161799 11161799 single base substitution C T intron_variant MELA-AU 7 11161979 11161979 single base substitution T C intron_variant MELA-AU 7 11162025 11162025 single base substitution C T intron_variant MELA-AU 7 11162109 11162109 single base substitution A G intron_variant MELA-AU 7 11162416 11162416 single base substitution C T intron_variant MELA-AU 7 11162604 11162604 single base substitution C T intron_variant MELA-AU 7 11162670 11162670 single base substitution C T intron_variant MELA-AU 7 11162681 11162681 single base substitution C T intron_variant MELA-AU 7 11163202 11163202 single base substitution T C intron_variant MELA-AU 7 11163544 11163544 single base substitution C T intron_variant MELA-AU 7 11163675 11163675 single base substitution C T intron_variant MELA-AU 7 11164612 11164612 single base substitution T A intron_variant MELA-AU 7 11164672 11164672 single base substitution C T intron_variant MELA-AU 7 11164728 11164728 single base substitution A T intron_variant MELA-AU 7 11165020 11165020 single base substitution C T intron_variant MELA-AU 7 11165129 11165129 single base substitution C T intron_variant MELA-AU 7 11165192 11165192 single base substitution C T intron_variant MELA-AU 7 11165432 11165432 single base substitution C T intron_variant MELA-AU 7 11165619 11165619 single base substitution C T intron_variant MELA-AU 7 11165718 11165718 single base substitution A G intron_variant MELA-AU 7 11166505 11166505 single base substitution C T intron_variant MELA-AU 7 11166680 11166680 single base substitution C T intron_variant MELA-AU 7 11166767 11166767 single base substitution C T intron_variant MELA-AU 7 11167011 11167011 single base substitution C T intron_variant MELA-AU 7 11167016 11167016 single base substitution C T intron_variant MELA-AU 7 11167679 11167680 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 11168363 11168363 single base substitution C T intron_variant MELA-AU 7 11168458 11168458 single base substitution T G intron_variant MELA-AU 7 11168815 11168815 single base substitution T C intron_variant MELA-AU 7 11170129 11170129 single base substitution G T intron_variant MELA-AU 7 11170341 11170341 single base substitution T A intron_variant MELA-AU 7 11170421 11170421 single base substitution C T intron_variant MELA-AU 7 11170820 11170820 single base substitution C T intron_variant MELA-AU 7 11171295 11171295 single base substitution G A intron_variant MELA-AU 7 11171320 11171320 single base substitution C T intron_variant MELA-AU 7 11171713 11171713 single base substitution T A intron_variant MELA-AU 7 11172133 11172133 single base substitution T G intron_variant MELA-AU 7 11172307 11172307 single base substitution A T intron_variant MELA-AU 7 11172364 11172364 single base substitution C T intron_variant MELA-AU 7 11173280 11173280 single base substitution C T intron_variant MELA-AU 7 11173343 11173343 single base substitution A C intron_variant MELA-AU 7 11173987 11173987 single base substitution T C intron_variant MELA-AU 7 11174110 11174110 single base substitution T C intron_variant MELA-AU 7 11174668 11174668 single base substitution C T intron_variant MELA-AU 7 11174730 11174730 single base substitution C T intron_variant MELA-AU 7 11175388 11175388 single base substitution C T intron_variant MELA-AU 7 11175982 11175982 single base substitution G A intron_variant MELA-AU 7 11176038 11176038 single base substitution C T intron_variant MELA-AU 7 11176105 11176105 single base substitution C T intron_variant MELA-AU 7 11176143 11176143 single base substitution C T intron_variant MELA-AU 7 11176304 11176304 single base substitution A T intron_variant MELA-AU 7 11177090 11177090 single base substitution C T intron_variant MELA-AU 7 11177421 11177421 single base substitution C T intron_variant MELA-AU 7 11177896 11177896 single base substitution C T intron_variant MELA-AU 7 11178061 11178061 single base substitution T G intron_variant MELA-AU 7 11178134 11178134 single base substitution C T intron_variant MELA-AU 7 11178402 11178402 single base substitution C T intron_variant MELA-AU 7 11178485 11178485 single base substitution T C intron_variant MELA-AU 7 11179230 11179230 single base substitution A C intron_variant MELA-AU 7 11180605 11180605 single base substitution C T intron_variant MELA-AU 7 11181134 11181134 single base substitution T C intron_variant MELA-AU 7 11181198 11181198 single base substitution A G intron_variant MELA-AU 7 11181265 11181265 single base substitution C T intron_variant MELA-AU 7 11181493 11181493 single base substitution T C intron_variant MELA-AU 7 11183150 11183150 single base substitution C T intron_variant MELA-AU 7 11183232 11183232 single base substitution C T intron_variant MELA-AU 7 11183674 11183674 single base substitution C T intron_variant MELA-AU 7 11184336 11184336 single base substitution G A intron_variant MELA-AU 7 11184529 11184529 single base substitution C T intron_variant MELA-AU 7 11184912 11184912 single base substitution C T intron_variant MELA-AU 7 11184922 11184922 single base substitution C A intron_variant MELA-AU 7 11185916 11185916 single base substitution C T intron_variant MELA-AU 7 11185954 11185954 single base substitution C T intron_variant MELA-AU 7 11186322 11186322 single base substitution C T intron_variant MELA-AU 7 11186504 11186504 single base substitution C T intron_variant MELA-AU 7 11186801 11186801 single base substitution G A intron_variant MELA-AU 7 11187475 11187475 single base substitution C T intron_variant MELA-AU 7 11188072 11188072 single base substitution C T intron_variant MELA-AU 7 11188283 11188283 single base substitution C T intron_variant MELA-AU 7 11188342 11188342 single base substitution G A intron_variant MELA-AU 7 11188485 11188485 single base substitution A G intron_variant MELA-AU 7 11188490 11188490 single base substitution T C intron_variant MELA-AU 7 11188537 11188537 single base substitution G A intron_variant MELA-AU 7 11188641 11188641 single base substitution T A intron_variant MELA-AU 7 11188869 11188869 single base substitution T A intron_variant MELA-AU 7 11189101 11189101 single base substitution C T intron_variant MELA-AU 7 11189152 11189152 single base substitution C T intron_variant MELA-AU 7 11189426 11189426 single base substitution T C intron_variant MELA-AU 7 11189904 11189904 single base substitution T G intron_variant MELA-AU 7 11190280 11190280 single base substitution C T intron_variant MELA-AU 7 11190556 11190556 single base substitution G A intron_variant MELA-AU 7 11190616 11190616 single base substitution A G intron_variant MELA-AU 7 11190818 11190818 single base substitution A T intron_variant MELA-AU 7 11190821 11190821 single base substitution T G intron_variant MELA-AU 7 11191283 11191283 single base substitution C T intron_variant MELA-AU 7 11191297 11191297 single base substitution G A intron_variant MELA-AU 7 11191299 11191299 single base substitution G A intron_variant MELA-AU 7 11191561 11191561 single base substitution C T intron_variant MELA-AU 7 11192193 11192193 single base substitution C G intron_variant MELA-AU 7 11193086 11193086 single base substitution C T intron_variant MELA-AU 7 11193223 11193223 single base substitution C T intron_variant MELA-AU 7 11193312 11193312 single base substitution C T intron_variant MELA-AU 7 11193432 11193433 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 7 11193590 11193590 single base substitution G A intron_variant MELA-AU 7 11194074 11194074 single base substitution C T intron_variant MELA-AU 7 11195950 11195950 single base substitution C T intron_variant MELA-AU 7 11196336 11196336 single base substitution C T intron_variant MELA-AU 7 11197526 11197526 single base substitution C T intron_variant MELA-AU 7 11197545 11197545 single base substitution T C intron_variant MELA-AU 7 11197656 11197656 single base substitution C T intron_variant MELA-AU 7 11198835 11198835 single base substitution A C intron_variant MELA-AU 7 11199574 11199574 single base substitution A T intron_variant MELA-AU 7 11199914 11199914 single base substitution C T intron_variant MELA-AU 7 11200266 11200266 single base substitution A T intron_variant MELA-AU 7 11200316 11200316 single base substitution C T intron_variant MELA-AU 7 11201155 11201155 single base substitution A G intron_variant MELA-AU 7 11201359 11201359 single base substitution T G intron_variant MELA-AU 7 11201384 11201384 single base substitution G T intron_variant MELA-AU 7 11201428 11201428 single base substitution C T intron_variant MELA-AU 7 11201666 11201666 single base substitution C T intron_variant MELA-AU 7 11201915 11201915 single base substitution C T intron_variant MELA-AU 7 11202043 11202043 single base substitution C T intron_variant MELA-AU 7 11202648 11202648 single base substitution C T intron_variant MELA-AU 7 11202692 11202692 single base substitution T C intron_variant MELA-AU 7 11202882 11202882 single base substitution T C intron_variant MELA-AU 7 11203150 11203150 single base substitution C T intron_variant MELA-AU 7 11203373 11203373 single base substitution C T intron_variant MELA-AU 7 11204311 11204311 single base substitution C T intron_variant MELA-AU 7 11204805 11204805 single base substitution C T intron_variant MELA-AU 7 11205064 11205064 single base substitution A T intron_variant MELA-AU 7 11205168 11205168 single base substitution C T intron_variant MELA-AU 7 11205292 11205292 single base substitution T C intron_variant MELA-AU 7 11205410 11205410 single base substitution T A intron_variant MELA-AU 7 11205448 11205448 single base substitution A C intron_variant MELA-AU 7 11205766 11205766 deletion of <=200bp A - intron_variant MELA-AU 7 11206011 11206011 single base substitution C T intron_variant MELA-AU 7 11207265 11207265 single base substitution C T intron_variant MELA-AU 7 11207298 11207298 single base substitution C T intron_variant MELA-AU 7 11207452 11207452 single base substitution C T intron_variant MELA-AU 7 11207640 11207640 single base substitution C T intron_variant MELA-AU 7 11207774 11207774 single base substitution A C intron_variant MELA-AU 7 11208377 11208377 single base substitution C T intron_variant MELA-AU 7 11208472 11208472 single base substitution C T intron_variant MELA-AU 7 11208563 11208563 single base substitution C T intron_variant MELA-AU 7 11209267 11209267 single base substitution C T downstream_gene_variant MELA-AU 7 11209414 11209414 single base substitution C T downstream_gene_variant MELA-AU 7 11209745 11209745 single base substitution C T downstream_gene_variant MELA-AU 7 11209826 11209826 single base substitution C T downstream_gene_variant MELA-AU 7 11210494 11210494 single base substitution G A downstream_gene_variant MELA-AU 7 11210549 11210549 single base substitution G A downstream_gene_variant MELA-AU 7 11210780 11210780 single base substitution C T downstream_gene_variant MELA-AU 7 11211008 11211008 single base substitution C T downstream_gene_variant MELA-AU 7 11211515 11211515 single base substitution A G downstream_gene_variant MELA-AU 7 11211529 11211529 single base substitution T C downstream_gene_variant MELA-AU 7 11211752 11211752 single base substitution C T downstream_gene_variant MELA-AU 7 11211941 11211941 single base substitution T A downstream_gene_variant MELA-AU 7 11212438 11212438 single base substitution C T downstream_gene_variant MELA-AU 7 11213095 11213095 single base substitution C T downstream_gene_variant MELA-AU 7 11213102 11213102 single base substitution C T downstream_gene_variant MELA-AU 7 11213164 11213164 single base substitution C T downstream_gene_variant MELA-AU 7 11213226 11213226 single base substitution C T downstream_gene_variant MELA-AU 7 11213439 11213439 single base substitution C T downstream_gene_variant MELA-AU 7 11213744 11213744 single base substitution T A downstream_gene_variant ORCA-IN 7 11022031 11022031 single base substitution G T exon_variant ORCA-IN 7 11022031 11022031 single base substitution G T intron_variant ORCA-IN 7 11022031 11022031 single base substitution G T missense_variant A49S 145G>T ORCA-IN 7 11049935 11049935 single base substitution A G intron_variant ORCA-IN 7 11049935 11049935 single base substitution A G upstream_gene_variant ORCA-IN 7 11059374 11059374 single base substitution C T downstream_gene_variant ORCA-IN 7 11059374 11059374 single base substitution C T intron_variant ORCA-IN 7 11089218 11089218 single base substitution A G intron_variant ORCA-IN 7 11109627 11109627 single base substitution C T intron_variant ORCA-IN 7 11112565 11112565 single base substitution C T intron_variant ORCA-IN 7 11117253 11117253 single base substitution G A intron_variant ORCA-IN 7 11126663 11126663 single base substitution C G intron_variant ORCA-IN 7 11127691 11127691 single base substitution G A intron_variant ORCA-IN 7 11128045 11128045 single base substitution G A intron_variant ORCA-IN 7 11149234 11149234 single base substitution A T exon_variant ORCA-IN 7 11149234 11149234 single base substitution A T intron_variant ORCA-IN 7 11149234 11149234 single base substitution A T upstream_gene_variant ORCA-IN 7 11154117 11154117 single base substitution C T intron_variant ORCA-IN 7 11171484 11171484 single base substitution G C intron_variant ORCA-IN 7 11172317 11172317 single base substitution A G intron_variant ORCA-IN 7 11174287 11174287 single base substitution T A intron_variant ORCA-IN 7 11193575 11193575 single base substitution C T intron_variant OV-AU 7 11009415 11009415 single base substitution G A upstream_gene_variant OV-AU 7 11012802 11012802 single base substitution G T upstream_gene_variant OV-AU 7 11013400 11013400 single base substitution C G upstream_gene_variant OV-AU 7 11014242 11014242 single base substitution G T intron_variant OV-AU 7 11015867 11015867 single base substitution G C intron_variant OV-AU 7 11037876 11037876 single base substitution G T intron_variant OV-AU 7 11039903 11039903 single base substitution T C intron_variant OV-AU 7 11057754 11057754 single base substitution G T downstream_gene_variant OV-AU 7 11057754 11057754 single base substitution G T intron_variant OV-AU 7 11066495 11066495 single base substitution A C intron_variant OV-AU 7 11071384 11071384 single base substitution A G downstream_gene_variant OV-AU 7 11071384 11071384 single base substitution A G intron_variant OV-AU 7 11071384 11071384 single base substitution A G upstream_gene_variant OV-AU 7 11074378 11074378 single base substitution G T intron_variant OV-AU 7 11074378 11074378 single base substitution G T upstream_gene_variant OV-AU 7 11076046 11076046 single base substitution C G missense_variant A250G 749C>G OV-AU 7 11076046 11076046 single base substitution C G missense_variant A535G 1604C>G OV-AU 7 11076046 11076046 single base substitution C G splice_region_variant OV-AU 7 11078825 11078825 single base substitution C G downstream_gene_variant OV-AU 7 11078825 11078825 single base substitution C G intron_variant OV-AU 7 11078825 11078825 single base substitution C G upstream_gene_variant OV-AU 7 11079557 11079557 single base substitution A C downstream_gene_variant OV-AU 7 11079557 11079557 single base substitution A C intron_variant OV-AU 7 11079557 11079557 single base substitution A C upstream_gene_variant OV-AU 7 11079850 11079850 single base substitution G T downstream_gene_variant OV-AU 7 11079850 11079850 single base substitution G T intron_variant OV-AU 7 11079850 11079850 single base substitution G T upstream_gene_variant OV-AU 7 11081739 11081739 single base substitution T C intron_variant OV-AU 7 11081739 11081739 single base substitution T C upstream_gene_variant OV-AU 7 11081896 11081896 single base substitution T C intron_variant OV-AU 7 11081896 11081896 single base substitution T C upstream_gene_variant OV-AU 7 11083857 11083857 single base substitution A T intron_variant OV-AU 7 11085779 11085779 single base substitution A G intron_variant OV-AU 7 11087074 11087074 single base substitution C T intron_variant OV-AU 7 11097785 11097785 single base substitution C T intron_variant OV-AU 7 11097785 11097785 single base substitution C T upstream_gene_variant OV-AU 7 11098525 11098525 single base substitution C T intron_variant OV-AU 7 11098525 11098525 single base substitution C T upstream_gene_variant OV-AU 7 11104489 11104489 single base substitution G C downstream_gene_variant OV-AU 7 11104489 11104489 single base substitution G C intron_variant OV-AU 7 11106501 11106501 single base substitution T C downstream_gene_variant OV-AU 7 11106501 11106501 single base substitution T C intron_variant OV-AU 7 11106664 11106664 single base substitution C G downstream_gene_variant OV-AU 7 11106664 11106664 single base substitution C G intron_variant OV-AU 7 11108643 11108643 single base substitution G A intron_variant OV-AU 7 11118831 11118831 single base substitution A T intron_variant OV-AU 7 11120523 11120523 single base substitution G A intron_variant OV-AU 7 11121760 11121760 single base substitution C T intron_variant OV-AU 7 11126735 11126735 single base substitution A G intron_variant OV-AU 7 11133219 11133219 single base substitution A G intron_variant OV-AU 7 11137215 11137215 single base substitution A G intron_variant OV-AU 7 11138066 11138066 single base substitution T A intron_variant OV-AU 7 11154807 11154807 single base substitution C T intron_variant OV-AU 7 11163495 11163495 single base substitution A C intron_variant OV-AU 7 11166550 11166550 single base substitution A G intron_variant OV-AU 7 11167682 11167682 single base substitution T C intron_variant OV-AU 7 11174818 11174818 single base substitution A T intron_variant OV-AU 7 11181694 11181694 single base substitution T G intron_variant OV-AU 7 11185647 11185647 single base substitution A C intron_variant OV-AU 7 11187205 11187205 single base substitution A G intron_variant OV-AU 7 11189473 11189473 single base substitution G C intron_variant OV-AU 7 11190589 11190589 single base substitution C T intron_variant OV-AU 7 11198596 11198596 single base substitution T A intron_variant OV-AU 7 11198939 11198939 single base substitution G C intron_variant OV-AU 7 11199514 11199514 single base substitution T C intron_variant OV-AU 7 11200572 11200572 single base substitution T C intron_variant OV-AU 7 11206454 11206454 single base substitution G A intron_variant OV-AU 7 11208684 11208684 single base substitution A G intron_variant OV-AU 7 11209111 11209111 single base substitution G C 3_prime_UTR_variant OV-AU 7 11209111 11209111 single base substitution G C exon_variant OV-AU 7 11209111 11209111 single base substitution G C missense_variant K662N 1986G>C OV-AU 7 11212267 11212267 single base substitution T A downstream_gene_variant OV-AU 7 11213621 11213621 single base substitution T A downstream_gene_variant PACA-AU 7 11009815 11009815 single base substitution C T upstream_gene_variant PACA-AU 7 11011105 11011105 single base substitution C G upstream_gene_variant PACA-AU 7 11011792 11011792 single base substitution A C upstream_gene_variant PACA-AU 7 11015584 11015584 single base substitution T G intron_variant PACA-AU 7 11018602 11018602 single base substitution T A intron_variant PACA-AU 7 11024745 11024745 single base substitution T C intron_variant PACA-AU 7 11026137 11026137 single base substitution G A intron_variant PACA-AU 7 11026844 11026844 single base substitution T C intron_variant PACA-AU 7 11027051 11027051 insertion of <=200bp - AT intron_variant PACA-AU 7 11028950 11028950 single base substitution T G intron_variant PACA-AU 7 11033017 11033017 single base substitution A G intron_variant PACA-AU 7 11037612 11037612 single base substitution A G intron_variant PACA-AU 7 11042079 11042079 single base substitution T C intron_variant PACA-AU 7 11048281 11048281 single base substitution T C intron_variant PACA-AU 7 11050306 11050306 single base substitution A G intron_variant PACA-AU 7 11050306 11050306 single base substitution A G upstream_gene_variant PACA-AU 7 11057410 11057410 single base substitution T C downstream_gene_variant PACA-AU 7 11057410 11057410 single base substitution T C intron_variant PACA-AU 7 11057593 11057593 single base substitution C T downstream_gene_variant PACA-AU 7 11057593 11057593 single base substitution C T intron_variant PACA-AU 7 11063060 11063060 single base substitution A G intron_variant PACA-AU 7 11063604 11063604 single base substitution A G intron_variant PACA-AU 7 11064650 11064650 single base substitution G A intron_variant PACA-AU 7 11064750 11064750 single base substitution T C intron_variant PACA-AU 7 11066366 11066366 single base substitution A T intron_variant PACA-AU 7 11067143 11067143 single base substitution C T intron_variant PACA-AU 7 11069419 11069419 single base substitution T G downstream_gene_variant PACA-AU 7 11069419 11069419 single base substitution T G intron_variant PACA-AU 7 11076788 11076788 single base substitution G A downstream_gene_variant PACA-AU 7 11076788 11076788 single base substitution G A intron_variant PACA-AU 7 11080174 11080174 single base substitution C A downstream_gene_variant PACA-AU 7 11080174 11080174 single base substitution C A intron_variant PACA-AU 7 11080174 11080174 single base substitution C A upstream_gene_variant PACA-AU 7 11081488 11081488 insertion of <=200bp - GT intron_variant PACA-AU 7 11081488 11081488 insertion of <=200bp - GT upstream_gene_variant PACA-AU 7 11085120 11085120 single base substitution G A intron_variant PACA-AU 7 11085601 11085601 single base substitution A G intron_variant PACA-AU 7 11086528 11086528 single base substitution T A intron_variant PACA-AU 7 11092033 11092033 deletion of <=200bp T - intron_variant PACA-AU 7 11099508 11099508 deletion of <=200bp T - intron_variant PACA-AU 7 11099508 11099508 deletion of <=200bp T - upstream_gene_variant PACA-AU 7 11106984 11106984 single base substitution C T downstream_gene_variant PACA-AU 7 11106984 11106984 single base substitution C T intron_variant PACA-AU 7 11107584 11107584 insertion of <=200bp - C downstream_gene_variant PACA-AU 7 11107584 11107584 insertion of <=200bp - C intron_variant PACA-AU 7 11109593 11109593 single base substitution A G intron_variant PACA-AU 7 11113311 11113311 single base substitution C A intron_variant PACA-AU 7 11119863 11119863 single base substitution G A intron_variant PACA-AU 7 11121319 11121319 single base substitution T G intron_variant PACA-AU 7 11125815 11125815 single base substitution C T intron_variant PACA-AU 7 11125840 11125840 single base substitution A C intron_variant PACA-AU 7 11126368 11126368 single base substitution C T intron_variant PACA-AU 7 11126972 11126972 single base substitution C G intron_variant PACA-AU 7 11126986 11126986 deletion of <=200bp T - intron_variant PACA-AU 7 11136848 11136848 single base substitution C T intron_variant PACA-AU 7 11137297 11137297 single base substitution G A intron_variant PACA-AU 7 11139966 11139966 single base substitution A T intron_variant PACA-AU 7 11143473 11143473 single base substitution T A downstream_gene_variant PACA-AU 7 11143473 11143473 single base substitution T A intron_variant PACA-AU 7 11143473 11143473 single base substitution T A upstream_gene_variant PACA-AU 7 11149675 11149675 single base substitution G C exon_variant PACA-AU 7 11149675 11149675 single base substitution G C intron_variant PACA-AU 7 11149675 11149675 single base substitution G C upstream_gene_variant PACA-AU 7 11153978 11153978 single base substitution C T intron_variant PACA-AU 7 11155050 11155050 single base substitution A G intron_variant PACA-AU 7 11158854 11158854 deletion of <=200bp T - intron_variant PACA-AU 7 11161961 11161961 single base substitution T G intron_variant PACA-AU 7 11163146 11163146 single base substitution C T intron_variant PACA-AU 7 11166188 11166188 single base substitution T A intron_variant PACA-AU 7 11166605 11166605 single base substitution A T intron_variant PACA-AU 7 11166680 11166680 deletion of <=200bp C - intron_variant PACA-AU 7 11167425 11167425 single base substitution A T intron_variant PACA-AU 7 11173775 11173775 single base substitution G A intron_variant PACA-AU 7 11176937 11176937 single base substitution G A intron_variant PACA-AU 7 11178319 11178319 single base substitution T G intron_variant PACA-AU 7 11179381 11179381 single base substitution A G intron_variant PACA-AU 7 11181452 11181452 single base substitution G A intron_variant PACA-AU 7 11182314 11182314 single base substitution A G intron_variant PACA-AU 7 11185025 11185025 single base substitution A T intron_variant PACA-AU 7 11186726 11186726 single base substitution C T intron_variant PACA-AU 7 11187581 11187581 single base substitution C T intron_variant PACA-AU 7 11191676 11191679 deletion of <=200bp ATAA - intron_variant PACA-AU 7 11191894 11191894 single base substitution A G intron_variant PACA-AU 7 11196188 11196188 single base substitution G A intron_variant PACA-AU 7 11196386 11196386 single base substitution A T intron_variant PACA-AU 7 11207985 11207985 single base substitution T C intron_variant PACA-CA 7 11011756 11011756 single base substitution T C upstream_gene_variant PACA-CA 7 11012739 11012739 single base substitution T C upstream_gene_variant PACA-CA 7 11013055 11013055 single base substitution T G upstream_gene_variant PACA-CA 7 11015599 11015599 insertion of <=200bp - GATA intron_variant PACA-CA 7 11015968 11015968 single base substitution G A intron_variant PACA-CA 7 11018028 11018028 single base substitution C T intron_variant PACA-CA 7 11022417 11022417 single base substitution C T exon_variant PACA-CA 7 11022417 11022417 single base substitution C T intron_variant PACA-CA 7 11022417 11022417 single base substitution C T synonymous_variant V177V 531C>T PACA-CA 7 11024389 11024389 single base substitution A G intron_variant PACA-CA 7 11032135 11032135 single base substitution C A intron_variant PACA-CA 7 11034061 11034061 single base substitution G A intron_variant PACA-CA 7 11034364 11034364 single base substitution G A intron_variant PACA-CA 7 11034501 11034501 single base substitution G A intron_variant PACA-CA 7 11037240 11037240 single base substitution G A intron_variant PACA-CA 7 11040572 11040572 single base substitution G T intron_variant PACA-CA 7 11042643 11042643 single base substitution C T intron_variant PACA-CA 7 11043228 11043228 single base substitution A G intron_variant PACA-CA 7 11045670 11045670 single base substitution C T intron_variant PACA-CA 7 11046069 11046069 single base substitution T C intron_variant PACA-CA 7 11046818 11046818 single base substitution C T intron_variant PACA-CA 7 11047043 11047043 single base substitution T A intron_variant PACA-CA 7 11047214 11047214 single base substitution T A intron_variant PACA-CA 7 11048401 11048401 single base substitution G A intron_variant PACA-CA 7 11052638 11052638 single base substitution T A intron_variant PACA-CA 7 11052638 11052638 single base substitution T A upstream_gene_variant PACA-CA 7 11052905 11052905 single base substitution C T intron_variant PACA-CA 7 11052905 11052905 single base substitution C T upstream_gene_variant PACA-CA 7 11053229 11053229 single base substitution A T intron_variant PACA-CA 7 11053229 11053229 single base substitution A T upstream_gene_variant PACA-CA 7 11059535 11059535 single base substitution G A downstream_gene_variant PACA-CA 7 11059535 11059535 single base substitution G A intron_variant PACA-CA 7 11060434 11060434 single base substitution C T intron_variant PACA-CA 7 11060460 11060460 deletion of <=200bp T - intron_variant PACA-CA 7 11061568 11061568 single base substitution G T intron_variant PACA-CA 7 11061990 11061990 single base substitution A G intron_variant PACA-CA 7 11064627 11064627 single base substitution C A intron_variant PACA-CA 7 11064827 11064827 single base substitution C T intron_variant PACA-CA 7 11066011 11066011 single base substitution A G intron_variant PACA-CA 7 11066311 11066311 single base substitution T C intron_variant PACA-CA 7 11066624 11066624 single base substitution C A intron_variant PACA-CA 7 11070991 11070991 single base substitution G A downstream_gene_variant PACA-CA 7 11070991 11070991 single base substitution G A intron_variant PACA-CA 7 11070991 11070991 single base substitution G A upstream_gene_variant PACA-CA 7 11076172 11076172 single base substitution G A 3_prime_UTR_variant PACA-CA 7 11076172 11076172 single base substitution G A exon_variant PACA-CA 7 11076172 11076172 single base substitution G A missense_variant R292H 875G>A PACA-CA 7 11076172 11076172 single base substitution G A missense_variant R577H 1730G>A PACA-CA 7 11079028 11079028 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 11079028 11079028 deletion of <=200bp A - intron_variant PACA-CA 7 11079028 11079028 deletion of <=200bp A - upstream_gene_variant PACA-CA 7 11084717 11084717 single base substitution G C intron_variant PACA-CA 7 11086257 11086257 single base substitution C G intron_variant PACA-CA 7 11086706 11086706 single base substitution C T intron_variant PACA-CA 7 11086916 11086916 single base substitution C T intron_variant PACA-CA 7 11088797 11088797 single base substitution C T intron_variant PACA-CA 7 11089670 11089670 single base substitution A G intron_variant PACA-CA 7 11089982 11089982 single base substitution A C intron_variant PACA-CA 7 11091537 11091537 insertion of <=200bp - T intron_variant PACA-CA 7 11092512 11092512 single base substitution A T intron_variant PACA-CA 7 11093469 11093469 single base substitution C G intron_variant PACA-CA 7 11096923 11096923 deletion of <=200bp T - intron_variant PACA-CA 7 11096923 11096923 deletion of <=200bp T - upstream_gene_variant PACA-CA 7 11102426 11102426 single base substitution G T downstream_gene_variant PACA-CA 7 11102426 11102426 single base substitution G T exon_variant PACA-CA 7 11102426 11102426 single base substitution G T intron_variant PACA-CA 7 11105853 11105853 single base substitution A G downstream_gene_variant PACA-CA 7 11105853 11105853 single base substitution A G intron_variant PACA-CA 7 11108189 11108189 single base substitution A G intron_variant PACA-CA 7 11110575 11110575 single base substitution T C intron_variant PACA-CA 7 11111177 11111177 single base substitution A G intron_variant PACA-CA 7 11119996 11119996 deletion of <=200bp T - intron_variant PACA-CA 7 11122824 11122824 single base substitution T G intron_variant PACA-CA 7 11124050 11124050 single base substitution C A intron_variant PACA-CA 7 11127970 11127970 single base substitution G T intron_variant PACA-CA 7 11133098 11133098 single base substitution A G intron_variant PACA-CA 7 11135496 11135496 single base substitution C T intron_variant PACA-CA 7 11136091 11136091 single base substitution G A intron_variant PACA-CA 7 11136518 11136518 single base substitution A T intron_variant PACA-CA 7 11145886 11145886 single base substitution A T downstream_gene_variant PACA-CA 7 11145886 11145886 single base substitution A T intron_variant PACA-CA 7 11145886 11145886 single base substitution A T upstream_gene_variant PACA-CA 7 11146564 11146564 single base substitution T C downstream_gene_variant PACA-CA 7 11146564 11146564 single base substitution T C intron_variant PACA-CA 7 11146564 11146564 single base substitution T C upstream_gene_variant PACA-CA 7 11147797 11147797 single base substitution A G downstream_gene_variant PACA-CA 7 11147797 11147797 single base substitution A G intron_variant PACA-CA 7 11147797 11147797 single base substitution A G upstream_gene_variant PACA-CA 7 11147973 11147973 insertion of <=200bp - T downstream_gene_variant PACA-CA 7 11147973 11147973 insertion of <=200bp - T intron_variant PACA-CA 7 11147973 11147973 insertion of <=200bp - T upstream_gene_variant PACA-CA 7 11149106 11149106 single base substitution A G exon_variant PACA-CA 7 11149106 11149106 single base substitution A G intron_variant PACA-CA 7 11149106 11149106 single base substitution A G upstream_gene_variant PACA-CA 7 11149312 11149312 single base substitution T A exon_variant PACA-CA 7 11149312 11149312 single base substitution T A intron_variant PACA-CA 7 11149312 11149312 single base substitution T A upstream_gene_variant PACA-CA 7 11152504 11152504 single base substitution A G intron_variant PACA-CA 7 11153187 11153187 single base substitution A C intron_variant PACA-CA 7 11157496 11157496 single base substitution G T intron_variant PACA-CA 7 11161727 11161727 single base substitution G T intron_variant PACA-CA 7 11161812 11161812 single base substitution A G intron_variant PACA-CA 7 11161958 11161958 single base substitution T A intron_variant PACA-CA 7 11165859 11165859 single base substitution C T intron_variant PACA-CA 7 11168315 11168315 insertion of <=200bp - TC intron_variant PACA-CA 7 11177467 11177467 single base substitution C T intron_variant PACA-CA 7 11180571 11180571 single base substitution A G intron_variant PACA-CA 7 11182351 11182351 single base substitution C T intron_variant PACA-CA 7 11186066 11186066 single base substitution C G intron_variant PACA-CA 7 11188134 11188134 single base substitution A G intron_variant PACA-CA 7 11195741 11195741 single base substitution A G intron_variant PACA-CA 7 11196585 11196585 single base substitution A G intron_variant PACA-CA 7 11198130 11198130 single base substitution C G intron_variant PACA-CA 7 11200086 11200086 single base substitution A G intron_variant PACA-CA 7 11201882 11201882 single base substitution A T intron_variant PACA-CA 7 11205419 11205419 single base substitution A G intron_variant PACA-CA 7 11208682 11208682 single base substitution C T intron_variant PAEN-AU 7 11023568 11023571 deletion of <=200bp TGTC - intron_variant PAEN-AU 7 11035505 11035505 single base substitution G T intron_variant PAEN-AU 7 11036402 11036402 single base substitution C G intron_variant PAEN-AU 7 11068002 11068002 single base substitution C T intron_variant PAEN-AU 7 11081840 11081840 single base substitution G T intron_variant PAEN-AU 7 11081840 11081840 single base substitution G T upstream_gene_variant PAEN-AU 7 11120554 11120554 single base substitution C T intron_variant PAEN-AU 7 11128852 11128852 single base substitution C A intron_variant PAEN-AU 7 11142045 11142045 single base substitution A T intron_variant PAEN-AU 7 11142796 11142796 single base substitution A G 3_prime_UTR_variant PAEN-AU 7 11142796 11142796 single base substitution A G downstream_gene_variant PAEN-AU 7 11142796 11142796 single base substitution A G intron_variant PAEN-AU 7 11206736 11206736 single base substitution C G intron_variant PAEN-AU 7 11210842 11210842 single base substitution G A downstream_gene_variant PAEN-IT 7 11008898 11008898 single base substitution G T upstream_gene_variant PAEN-IT 7 11019653 11019653 single base substitution C G intron_variant PAEN-IT 7 11033589 11033589 single base substitution T G intron_variant PAEN-IT 7 11034063 11034063 single base substitution C A intron_variant PAEN-IT 7 11059512 11059512 single base substitution T G downstream_gene_variant PAEN-IT 7 11059512 11059512 single base substitution T G intron_variant PAEN-IT 7 11105019 11105019 single base substitution C T downstream_gene_variant PAEN-IT 7 11105019 11105019 single base substitution C T intron_variant PAEN-IT 7 11119595 11119595 single base substitution G T intron_variant PAEN-IT 7 11123616 11123616 single base substitution G T intron_variant PAEN-IT 7 11130315 11130315 single base substitution C G intron_variant PAEN-IT 7 11146803 11146803 single base substitution A G downstream_gene_variant PAEN-IT 7 11146803 11146803 single base substitution A G intron_variant PAEN-IT 7 11146803 11146803 single base substitution A G upstream_gene_variant PAEN-IT 7 11151055 11151055 single base substitution C T 3_prime_UTR_variant PAEN-IT 7 11151055 11151055 single base substitution C T exon_variant PAEN-IT 7 11151055 11151055 single base substitution C T synonymous_variant Y626Y 1878C>T PBCA-DE 7 11010421 11010421 single base substitution G T upstream_gene_variant PBCA-DE 7 11012749 11012749 single base substitution T C upstream_gene_variant PBCA-DE 7 11013551 11013551 single base substitution A G 5_prime_UTR_variant PBCA-DE 7 11013551 11013551 single base substitution A G exon_variant PBCA-DE 7 11015425 11015426 deletion of <=200bp TT - intron_variant PBCA-DE 7 11017383 11017383 single base substitution T A intron_variant PBCA-DE 7 11022564 11022564 single base substitution G A exon_variant PBCA-DE 7 11022564 11022564 single base substitution G A intron_variant PBCA-DE 7 11022564 11022564 single base substitution G A synonymous_variant A226A 678G>A PBCA-DE 7 11023256 11023256 single base substitution G A intron_variant PBCA-DE 7 11030476 11030476 single base substitution T C splice_donor_variant PBCA-DE 7 11049838 11049838 single base substitution T G intron_variant PBCA-DE 7 11049838 11049838 single base substitution T G upstream_gene_variant PBCA-DE 7 11062089 11062089 single base substitution G A intron_variant PBCA-DE 7 11069734 11069734 single base substitution A G downstream_gene_variant PBCA-DE 7 11069734 11069734 single base substitution A G intron_variant PBCA-DE 7 11086646 11086646 deletion of <=200bp T - intron_variant PBCA-DE 7 11087222 11087222 single base substitution A G intron_variant PBCA-DE 7 11105814 11105814 single base substitution G A downstream_gene_variant PBCA-DE 7 11105814 11105814 single base substitution G A intron_variant PBCA-DE 7 11122178 11122178 single base substitution A T intron_variant PBCA-DE 7 11123627 11123627 single base substitution A G intron_variant PBCA-DE 7 11128641 11128641 single base substitution T A intron_variant PBCA-DE 7 11141601 11141601 single base substitution A G intron_variant PBCA-DE 7 11158150 11158150 insertion of <=200bp - A intron_variant PBCA-DE 7 11158829 11158829 single base substitution C T intron_variant PBCA-DE 7 11163658 11163697 deletion of <=200bp TTTTCTCCTTACTTTTTCCTTTTCTTTTTTCTAACTCCAC - intron_variant PBCA-DE 7 11180608 11180608 single base substitution T G intron_variant PBCA-DE 7 11182254 11182254 single base substitution T C intron_variant PBCA-DE 7 11188637 11188637 insertion of <=200bp - T intron_variant PBCA-DE 7 11191388 11191388 single base substitution G T intron_variant PBCA-DE 7 11193576 11193577 deletion of <=200bp GT - intron_variant PBCA-DE 7 11195603 11195603 single base substitution G A intron_variant PBCA-DE 7 11202021 11202021 single base substitution G C intron_variant PBCA-DE 7 11206621 11206621 single base substitution C A intron_variant PBCA-DE 7 11211248 11211248 single base substitution C A downstream_gene_variant PBCA-DE 7 11211508 11211508 single base substitution C T downstream_gene_variant PBCA-DE 7 11214010 11214010 single base substitution A G downstream_gene_variant PRAD-CA 7 11016155 11016155 single base substitution T G intron_variant PRAD-CA 7 11054632 11054632 single base substitution A G exon_variant PRAD-CA 7 11054632 11054632 single base substitution A G intron_variant PRAD-CA 7 11055555 11055555 single base substitution T C downstream_gene_variant PRAD-CA 7 11055555 11055555 single base substitution T C intron_variant PRAD-CA 7 11070286 11070286 single base substitution A C downstream_gene_variant PRAD-CA 7 11070286 11070286 single base substitution A C intron_variant PRAD-CA 7 11070286 11070286 single base substitution A C upstream_gene_variant PRAD-CA 7 11077547 11077547 single base substitution T G downstream_gene_variant PRAD-CA 7 11077547 11077547 single base substitution T G intron_variant PRAD-CA 7 11077547 11077547 single base substitution T G upstream_gene_variant PRAD-CA 7 11117269 11117269 single base substitution A C intron_variant PRAD-CA 7 11136644 11136644 single base substitution T C intron_variant PRAD-CA 7 11137394 11137394 single base substitution A C intron_variant PRAD-CA 7 11213144 11213144 single base substitution A G downstream_gene_variant PRAD-UK 7 11013173 11013173 single base substitution A G upstream_gene_variant PRAD-UK 7 11017328 11017329 deletion of <=200bp AA - intron_variant PRAD-UK 7 11023718 11023721 deletion of <=200bp CAAA - intron_variant PRAD-UK 7 11029767 11029767 single base substitution A G intron_variant PRAD-UK 7 11033453 11033453 single base substitution T C intron_variant PRAD-UK 7 11039324 11039324 single base substitution A G intron_variant PRAD-UK 7 11046752 11046752 single base substitution G A intron_variant PRAD-UK 7 11055487 11055487 single base substitution G T downstream_gene_variant PRAD-UK 7 11055487 11055487 single base substitution G T intron_variant PRAD-UK 7 11063478 11063478 single base substitution G T intron_variant PRAD-UK 7 11073801 11073801 single base substitution C T intron_variant PRAD-UK 7 11073801 11073801 single base substitution C T upstream_gene_variant PRAD-UK 7 11077987 11077987 insertion of <=200bp - GGT downstream_gene_variant PRAD-UK 7 11077987 11077987 insertion of <=200bp - GGT intron_variant PRAD-UK 7 11077987 11077987 insertion of <=200bp - GGT upstream_gene_variant PRAD-UK 7 11077996 11077996 insertion of <=200bp - GGT downstream_gene_variant PRAD-UK 7 11077996 11077996 insertion of <=200bp - GGT intron_variant PRAD-UK 7 11077996 11077996 insertion of <=200bp - GGT upstream_gene_variant PRAD-UK 7 11086676 11086676 single base substitution C A intron_variant PRAD-UK 7 11091047 11091047 single base substitution T G intron_variant PRAD-UK 7 11091695 11091695 single base substitution C T intron_variant PRAD-UK 7 11109340 11109340 single base substitution T G intron_variant PRAD-UK 7 11114853 11114853 single base substitution A G intron_variant PRAD-UK 7 11117483 11117483 single base substitution A G intron_variant PRAD-UK 7 11123540 11123541 deletion of <=200bp CA - intron_variant PRAD-UK 7 11127435 11127435 single base substitution A T intron_variant PRAD-UK 7 11137285 11137285 single base substitution G A intron_variant PRAD-UK 7 11137286 11137286 single base substitution G T intron_variant PRAD-UK 7 11137287 11137287 single base substitution C T intron_variant PRAD-UK 7 11139744 11139744 single base substitution T C intron_variant PRAD-UK 7 11145632 11145632 single base substitution A G downstream_gene_variant PRAD-UK 7 11145632 11145632 single base substitution A G intron_variant PRAD-UK 7 11145632 11145632 single base substitution A G upstream_gene_variant PRAD-UK 7 11149914 11149914 single base substitution C G exon_variant PRAD-UK 7 11149914 11149914 single base substitution C G intron_variant PRAD-UK 7 11149914 11149914 single base substitution C G upstream_gene_variant PRAD-UK 7 11158666 11158674 deletion of <=200bp AAACTTGAA - intron_variant PRAD-UK 7 11175263 11175263 single base substitution A C intron_variant PRAD-UK 7 11175523 11175523 single base substitution T A intron_variant PRAD-UK 7 11191773 11191773 single base substitution A G intron_variant PRAD-UK 7 11191849 11191849 single base substitution T G intron_variant PRAD-UK 7 11201295 11201295 single base substitution C T intron_variant READ-US 7 11022529 11022529 single base substitution C T exon_variant READ-US 7 11022529 11022529 single base substitution C T intron_variant READ-US 7 11022529 11022529 single base substitution C T stop_gained R215* 643C>T READ-US 7 11030370 11030370 deletion of <=200bp A - 3_prime_UTR_variant READ-US 7 11030370 11030370 deletion of <=200bp A - exon_variant READ-US 7 11030370 11030370 deletion of <=200bp A - frameshift_variant Q29 READ-US 7 11030370 11030370 deletion of <=200bp A - frameshift_variant Q314 READ-US 7 11030370 11030370 single base substitution A C 3_prime_UTR_variant READ-US 7 11030370 11030370 single base substitution A C exon_variant READ-US 7 11030370 11030370 single base substitution A C missense_variant Q29P 86A>C READ-US 7 11030370 11030370 single base substitution A C missense_variant Q314P 941A>C READ-US 7 11076707 11076707 single base substitution G T 3_prime_UTR_variant READ-US 7 11076707 11076707 single base substitution G T downstream_gene_variant READ-US 7 11076707 11076707 single base substitution G T exon_variant READ-US 7 11076707 11076707 single base substitution G T stop_gained E372* 1114G>T READ-US 7 11076707 11076707 single base substitution G T stop_gained E657* 1969G>T READ-US 7 11101436 11101436 single base substitution C T 3_prime_UTR_variant READ-US 7 11101436 11101436 single base substitution C T exon_variant READ-US 7 11101436 11101436 single base substitution C T stop_gained R549* 1645C>T READ-US 7 11101436 11101436 single base substitution C T stop_gained R834* 2500C>T READ-US 7 11101436 11101436 single base substitution C T upstream_gene_variant RECA-EU 7 11012002 11012002 single base substitution A T upstream_gene_variant RECA-EU 7 11030912 11030912 single base substitution A G intron_variant RECA-EU 7 11033063 11033063 single base substitution G A intron_variant RECA-EU 7 11044833 11044833 single base substitution C G intron_variant RECA-EU 7 11045736 11045736 single base substitution A G intron_variant RECA-EU 7 11058704 11058704 single base substitution A T downstream_gene_variant RECA-EU 7 11058704 11058704 single base substitution A T intron_variant RECA-EU 7 11062398 11062398 single base substitution G A intron_variant RECA-EU 7 11070903 11070903 single base substitution G T downstream_gene_variant RECA-EU 7 11070903 11070903 single base substitution G T intron_variant RECA-EU 7 11070903 11070903 single base substitution G T upstream_gene_variant RECA-EU 7 11073148 11073148 single base substitution T C downstream_gene_variant RECA-EU 7 11073148 11073148 single base substitution T C intron_variant RECA-EU 7 11073148 11073148 single base substitution T C upstream_gene_variant RECA-EU 7 11079953 11079953 single base substitution A T downstream_gene_variant RECA-EU 7 11079953 11079953 single base substitution A T intron_variant RECA-EU 7 11079953 11079953 single base substitution A T upstream_gene_variant RECA-EU 7 11085388 11085388 single base substitution T A intron_variant RECA-EU 7 11101539 11101539 single base substitution C T intron_variant RECA-EU 7 11102738 11102738 single base substitution T C downstream_gene_variant RECA-EU 7 11102738 11102738 single base substitution T C intron_variant RECA-EU 7 11105676 11105676 single base substitution T A downstream_gene_variant RECA-EU 7 11105676 11105676 single base substitution T A intron_variant RECA-EU 7 11110952 11110952 single base substitution G A intron_variant RECA-EU 7 11113795 11113795 single base substitution A G intron_variant RECA-EU 7 11127249 11127249 single base substitution T A intron_variant RECA-EU 7 11128581 11128581 single base substitution G T intron_variant RECA-EU 7 11132928 11132928 single base substitution G T intron_variant RECA-EU 7 11133629 11133629 single base substitution A T intron_variant RECA-EU 7 11144777 11144777 single base substitution T A downstream_gene_variant RECA-EU 7 11144777 11144777 single base substitution T A intron_variant RECA-EU 7 11144777 11144777 single base substitution T A upstream_gene_variant RECA-EU 7 11156553 11156553 single base substitution A G intron_variant RECA-EU 7 11157970 11157970 single base substitution G A intron_variant RECA-EU 7 11162854 11162854 single base substitution G A intron_variant RECA-EU 7 11163862 11163862 single base substitution C A intron_variant RECA-EU 7 11179234 11179234 single base substitution T G intron_variant RECA-EU 7 11179384 11179384 single base substitution A T intron_variant RECA-EU 7 11184526 11184526 single base substitution A C intron_variant RECA-EU 7 11184698 11184698 single base substitution G T intron_variant RECA-EU 7 11196773 11196773 single base substitution G T intron_variant RECA-EU 7 11199191 11199191 single base substitution T A intron_variant RECA-EU 7 11202718 11202718 single base substitution A G intron_variant RECA-EU 7 11205892 11205892 single base substitution A C intron_variant RECA-EU 7 11210304 11210304 single base substitution A G downstream_gene_variant RECA-EU 7 11212413 11212413 single base substitution A G downstream_gene_variant SKCA-BR 7 11008664 11008664 single base substitution G A upstream_gene_variant SKCA-BR 7 11008714 11008714 single base substitution G A upstream_gene_variant SKCA-BR 7 11011966 11011966 single base substitution G A upstream_gene_variant SKCA-BR 7 11013330 11013330 single base substitution A G upstream_gene_variant SKCA-BR 7 11013777 11013777 single base substitution T G 5_prime_UTR_variant SKCA-BR 7 11013777 11013777 single base substitution T G exon_variant SKCA-BR 7 11014275 11014275 single base substitution C T intron_variant SKCA-BR 7 11014276 11014276 single base substitution C T intron_variant SKCA-BR 7 11015349 11015349 single base substitution C T intron_variant SKCA-BR 7 11016538 11016538 single base substitution C T intron_variant SKCA-BR 7 11018534 11018534 single base substitution G C intron_variant SKCA-BR 7 11019078 11019078 single base substitution T C intron_variant SKCA-BR 7 11021231 11021231 single base substitution C T intron_variant SKCA-BR 7 11022342 11022342 single base substitution A C exon_variant SKCA-BR 7 11022342 11022342 single base substitution A C intron_variant SKCA-BR 7 11022342 11022342 single base substitution A C synonymous_variant T152T 456A>C SKCA-BR 7 11028278 11028278 single base substitution T C intron_variant SKCA-BR 7 11030817 11030817 single base substitution A T intron_variant SKCA-BR 7 11031476 11031476 single base substitution C T intron_variant SKCA-BR 7 11031835 11031835 single base substitution C T intron_variant SKCA-BR 7 11035276 11035276 single base substitution T G intron_variant SKCA-BR 7 11035441 11035441 single base substitution C G intron_variant SKCA-BR 7 11036561 11036561 single base substitution T C intron_variant SKCA-BR 7 11039961 11039963 deletion of <=200bp CTT - intron_variant SKCA-BR 7 11041235 11041235 insertion of <=200bp - TTTTGTTAGATTTATATCTAAG intron_variant SKCA-BR 7 11042294 11042294 single base substitution T C intron_variant SKCA-BR 7 11042362 11042362 single base substitution C T intron_variant SKCA-BR 7 11042442 11042442 single base substitution T G intron_variant SKCA-BR 7 11044938 11044938 single base substitution T G intron_variant SKCA-BR 7 11052329 11052329 single base substitution C T intron_variant SKCA-BR 7 11052329 11052329 single base substitution C T upstream_gene_variant SKCA-BR 7 11055184 11055184 single base substitution G T downstream_gene_variant SKCA-BR 7 11055184 11055184 single base substitution G T intron_variant SKCA-BR 7 11055198 11055198 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 7 11055198 11055198 insertion of <=200bp - CT intron_variant SKCA-BR 7 11057240 11057240 single base substitution C T downstream_gene_variant SKCA-BR 7 11057240 11057240 single base substitution C T intron_variant SKCA-BR 7 11063879 11063879 single base substitution G A intron_variant SKCA-BR 7 11063953 11063953 single base substitution A T intron_variant SKCA-BR 7 11064988 11064988 single base substitution G A intron_variant SKCA-BR 7 11065030 11065030 single base substitution C T intron_variant SKCA-BR 7 11065536 11065536 single base substitution C T intron_variant SKCA-BR 7 11065735 11065736 deletion of <=200bp TC - intron_variant SKCA-BR 7 11065737 11065737 single base substitution A T intron_variant SKCA-BR 7 11065770 11065770 single base substitution A C intron_variant SKCA-BR 7 11066349 11066349 insertion of <=200bp - GT intron_variant SKCA-BR 7 11071217 11071217 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 7 11071217 11071217 insertion of <=200bp - CA intron_variant SKCA-BR 7 11071217 11071217 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 7 11077624 11077624 single base substitution G T downstream_gene_variant SKCA-BR 7 11077624 11077624 single base substitution G T intron_variant SKCA-BR 7 11077624 11077624 single base substitution G T upstream_gene_variant SKCA-BR 7 11078082 11078082 single base substitution C T downstream_gene_variant SKCA-BR 7 11078082 11078082 single base substitution C T intron_variant SKCA-BR 7 11078082 11078082 single base substitution C T upstream_gene_variant SKCA-BR 7 11078260 11078260 single base substitution G A downstream_gene_variant SKCA-BR 7 11078260 11078260 single base substitution G A intron_variant SKCA-BR 7 11078260 11078260 single base substitution G A upstream_gene_variant SKCA-BR 7 11078261 11078261 single base substitution G A downstream_gene_variant SKCA-BR 7 11078261 11078261 single base substitution G A intron_variant SKCA-BR 7 11078261 11078261 single base substitution G A upstream_gene_variant SKCA-BR 7 11078351 11078351 single base substitution T A downstream_gene_variant SKCA-BR 7 11078351 11078351 single base substitution T A intron_variant SKCA-BR 7 11078351 11078351 single base substitution T A upstream_gene_variant SKCA-BR 7 11081702 11081702 single base substitution C T intron_variant SKCA-BR 7 11081702 11081702 single base substitution C T upstream_gene_variant SKCA-BR 7 11086698 11086698 single base substitution T C intron_variant SKCA-BR 7 11088316 11088316 single base substitution A G intron_variant SKCA-BR 7 11088927 11088927 single base substitution C A intron_variant SKCA-BR 7 11091684 11091684 single base substitution C T intron_variant SKCA-BR 7 11092785 11092785 single base substitution C T intron_variant SKCA-BR 7 11094861 11094861 single base substitution C T intron_variant SKCA-BR 7 11094862 11094862 single base substitution C T intron_variant SKCA-BR 7 11100795 11100795 single base substitution C T intron_variant SKCA-BR 7 11100795 11100795 single base substitution C T upstream_gene_variant SKCA-BR 7 11101395 11101395 single base substitution T G exon_variant SKCA-BR 7 11101395 11101395 single base substitution T G intron_variant SKCA-BR 7 11101395 11101395 single base substitution T G upstream_gene_variant SKCA-BR 7 11102930 11102930 single base substitution C T downstream_gene_variant SKCA-BR 7 11102930 11102930 single base substitution C T intron_variant SKCA-BR 7 11102931 11102931 single base substitution C T downstream_gene_variant SKCA-BR 7 11102931 11102931 single base substitution C T intron_variant SKCA-BR 7 11103885 11103885 single base substitution C T downstream_gene_variant SKCA-BR 7 11103885 11103885 single base substitution C T intron_variant SKCA-BR 7 11104457 11104457 single base substitution T C downstream_gene_variant SKCA-BR 7 11104457 11104457 single base substitution T C intron_variant SKCA-BR 7 11108416 11108416 single base substitution A G intron_variant SKCA-BR 7 11108429 11108429 single base substitution C G intron_variant SKCA-BR 7 11108436 11108436 single base substitution A G intron_variant SKCA-BR 7 11109238 11109238 single base substitution C T intron_variant SKCA-BR 7 11110977 11110977 single base substitution G A intron_variant SKCA-BR 7 11115923 11115923 single base substitution C T intron_variant SKCA-BR 7 11118158 11118158 single base substitution C T intron_variant SKCA-BR 7 11118159 11118159 single base substitution C T intron_variant SKCA-BR 7 11119899 11119899 single base substitution T A intron_variant SKCA-BR 7 11121209 11121209 single base substitution C T intron_variant SKCA-BR 7 11122726 11122726 single base substitution G A intron_variant SKCA-BR 7 11122904 11122904 single base substitution C T intron_variant SKCA-BR 7 11125664 11125664 single base substitution C T intron_variant SKCA-BR 7 11126824 11126824 insertion of <=200bp - CT intron_variant SKCA-BR 7 11133048 11133048 single base substitution C T intron_variant SKCA-BR 7 11133609 11133609 single base substitution C T intron_variant SKCA-BR 7 11136578 11136578 single base substitution C T intron_variant SKCA-BR 7 11136579 11136579 single base substitution C T intron_variant SKCA-BR 7 11140383 11140383 single base substitution T C intron_variant SKCA-BR 7 11140783 11140783 single base substitution A G intron_variant SKCA-BR 7 11141603 11141603 single base substitution G T intron_variant SKCA-BR 7 11145158 11145158 single base substitution T A downstream_gene_variant SKCA-BR 7 11145158 11145158 single base substitution T A intron_variant SKCA-BR 7 11145158 11145158 single base substitution T A upstream_gene_variant SKCA-BR 7 11146092 11146092 single base substitution G T downstream_gene_variant SKCA-BR 7 11146092 11146092 single base substitution G T intron_variant SKCA-BR 7 11146092 11146092 single base substitution G T upstream_gene_variant SKCA-BR 7 11150086 11150086 single base substitution C T exon_variant SKCA-BR 7 11150086 11150086 single base substitution C T intron_variant SKCA-BR 7 11150086 11150086 single base substitution C T upstream_gene_variant SKCA-BR 7 11152589 11152589 single base substitution T C intron_variant SKCA-BR 7 11161983 11161983 single base substitution C T intron_variant SKCA-BR 7 11162069 11162069 insertion of <=200bp - CAT intron_variant SKCA-BR 7 11164865 11164865 single base substitution G T intron_variant SKCA-BR 7 11165004 11165004 single base substitution T C intron_variant SKCA-BR 7 11166218 11166218 single base substitution G C intron_variant SKCA-BR 7 11166871 11166871 insertion of <=200bp - CTT intron_variant SKCA-BR 7 11172033 11172033 single base substitution A T intron_variant SKCA-BR 7 11172220 11172220 single base substitution C T intron_variant SKCA-BR 7 11175679 11175679 single base substitution A G intron_variant SKCA-BR 7 11182030 11182030 single base substitution C T intron_variant SKCA-BR 7 11184300 11184300 single base substitution A G intron_variant SKCA-BR 7 11186309 11186309 single base substitution G T intron_variant SKCA-BR 7 11193418 11193418 single base substitution T G intron_variant SKCA-BR 7 11194202 11194202 single base substitution C T intron_variant SKCA-BR 7 11199471 11199471 single base substitution C T intron_variant SKCA-BR 7 11199633 11199633 single base substitution C T intron_variant SKCA-BR 7 11199928 11199928 single base substitution C T intron_variant SKCA-BR 7 11201233 11201233 single base substitution G A intron_variant SKCA-BR 7 11202358 11202358 single base substitution C T intron_variant SKCA-BR 7 11204895 11204895 single base substitution T C intron_variant SKCA-BR 7 11206926 11206926 single base substitution T G intron_variant SKCA-BR 7 11210695 11210695 single base substitution T C downstream_gene_variant SKCA-BR 7 11211170 11211170 single base substitution C A downstream_gene_variant SKCA-BR 7 11213359 11213359 single base substitution C T downstream_gene_variant SKCA-BR 7 11213915 11213915 single base substitution A T downstream_gene_variant SKCM-US 7 11022442 11022442 single base substitution C T exon_variant SKCM-US 7 11022442 11022442 single base substitution C T intron_variant SKCM-US 7 11022442 11022442 single base substitution C T stop_gained R186* 556C>T SKCM-US 7 11022696 11022696 single base substitution G A exon_variant SKCM-US 7 11022696 11022696 single base substitution G A intron_variant SKCM-US 7 11022696 11022696 single base substitution G A synonymous_variant K270K 810G>A SKCM-US 7 11053476 11053476 single base substitution C T 3_prime_UTR_variant SKCM-US 7 11053476 11053476 single base substitution C T exon_variant SKCM-US 7 11053476 11053476 single base substitution C T missense_variant P383L 1148C>T SKCM-US 7 11053476 11053476 single base substitution C T missense_variant P98L 293C>T SKCM-US 7 11068332 11068332 single base substitution C T 3_prime_UTR_variant SKCM-US 7 11068332 11068332 single base substitution C T exon_variant SKCM-US 7 11068332 11068332 single base substitution C T missense_variant R163C 487C>T SKCM-US 7 11068332 11068332 single base substitution C T missense_variant R448C 1342C>T SKCM-US 7 11076096 11076096 single base substitution C T 3_prime_UTR_variant SKCM-US 7 11076096 11076096 single base substitution C T exon_variant SKCM-US 7 11076096 11076096 single base substitution C T stop_gained R267* 799C>T SKCM-US 7 11076096 11076096 single base substitution C T stop_gained R552* 1654C>T SKCM-US 7 11076123 11076123 single base substitution C T 3_prime_UTR_variant SKCM-US 7 11076123 11076123 single base substitution C T exon_variant SKCM-US 7 11076123 11076123 single base substitution C T missense_variant P276S 826C>T SKCM-US 7 11076123 11076123 single base substitution C T missense_variant P561S 1681C>T SKCM-US 7 11076171 11076171 single base substitution C T 3_prime_UTR_variant SKCM-US 7 11076171 11076171 single base substitution C T exon_variant SKCM-US 7 11076171 11076171 single base substitution C T missense_variant R292C 874C>T SKCM-US 7 11076171 11076171 single base substitution C T missense_variant R577C 1729C>T SKCM-US 7 11076223 11076223 single base substitution C T 3_prime_UTR_variant SKCM-US 7 11076223 11076223 single base substitution C T exon_variant SKCM-US 7 11076223 11076223 single base substitution C T missense_variant P309L 926C>T SKCM-US 7 11076223 11076223 single base substitution C T missense_variant P594L 1781C>T SKCM-US 7 11076227 11076227 single base substitution G A 3_prime_UTR_variant SKCM-US 7 11076227 11076227 single base substitution G A exon_variant SKCM-US 7 11076227 11076227 single base substitution G A synonymous_variant V310V 930G>A SKCM-US 7 11076227 11076227 single base substitution G A synonymous_variant V595V 1785G>A SKCM-US 7 11101606 11101606 single base substitution G A 3_prime_UTR_variant SKCM-US 7 11101606 11101606 single base substitution G A exon_variant SKCM-US 7 11101606 11101606 single base substitution G A missense_variant E565K 1693G>A SKCM-US 7 11101606 11101606 single base substitution G A missense_variant E850K 2548G>A SKCM-US 7 11101640 11101640 single base substitution A G 3_prime_UTR_variant SKCM-US 7 11101640 11101640 single base substitution A G exon_variant SKCM-US 7 11101640 11101640 single base substitution A G missense_variant K576R 1727A>G SKCM-US 7 11101640 11101640 single base substitution A G missense_variant K861R 2582A>G SKCM-US 7 11209072 11209072 single base substitution T C 3_prime_UTR_variant SKCM-US 7 11209072 11209072 single base substitution T C exon_variant SKCM-US 7 11209072 11209072 single base substitution T C synonymous_variant N649N 1947T>C STAD-US 7 11022051 11022051 single base substitution A C exon_variant STAD-US 7 11022051 11022051 single base substitution A C intron_variant STAD-US 7 11022051 11022051 single base substitution A C missense_variant E55D 165A>C STAD-US 7 11030400 11030400 single base substitution T C 3_prime_UTR_variant STAD-US 7 11030400 11030400 single base substitution T C exon_variant STAD-US 7 11030400 11030400 single base substitution T C missense_variant V324A 971T>C STAD-US 7 11030400 11030400 single base substitution T C missense_variant V39A 116T>C STAD-US 7 11062500 11062500 single base substitution T A 3_prime_UTR_variant STAD-US 7 11062500 11062500 single base substitution T A exon_variant STAD-US 7 11062500 11062500 single base substitution T A missense_variant V119D 356T>A STAD-US 7 11062500 11062500 single base substitution T A missense_variant V404D 1211T>A STAD-US 7 11076293 11076293 single base substitution A C 3_prime_UTR_variant STAD-US 7 11076293 11076293 single base substitution A C exon_variant STAD-US 7 11076293 11076293 single base substitution A C synonymous_variant A332A 996A>C STAD-US 7 11076293 11076293 single base substitution A C synonymous_variant A617A 1851A>C STAD-US 7 11080314 11080314 single base substitution G A 3_prime_UTR_variant STAD-US 7 11080314 11080314 single base substitution G A downstream_gene_variant STAD-US 7 11080314 11080314 single base substitution G A exon_variant STAD-US 7 11080314 11080314 single base substitution G A missense_variant A413T 1237G>A STAD-US 7 11080314 11080314 single base substitution G A missense_variant A698T 2092G>A STAD-US 7 11080314 11080314 single base substitution G A upstream_gene_variant STAD-US 7 11091326 11091326 single base substitution A G 3_prime_UTR_variant STAD-US 7 11091326 11091326 single base substitution A G exon_variant STAD-US 7 11091326 11091326 single base substitution A G synonymous_variant S515S 1545A>G STAD-US 7 11091326 11091326 single base substitution A G synonymous_variant S800S 2400A>G STAD-US 7 11091378 11091378 single base substitution G C 3_prime_UTR_variant STAD-US 7 11091378 11091378 single base substitution G C exon_variant STAD-US 7 11091378 11091378 single base substitution G C missense_variant E533Q 1597G>C STAD-US 7 11091378 11091378 single base substitution G C missense_variant E818Q 2452G>C STAD-US 7 11091407 11091407 single base substitution G T splice_region_variant STAD-US 7 11101630 11101630 single base substitution T C 3_prime_UTR_variant STAD-US 7 11101630 11101630 single base substitution T C exon_variant STAD-US 7 11101630 11101630 single base substitution T C synonymous_variant L573L 1717T>C STAD-US 7 11101630 11101630 single base substitution T C synonymous_variant L858L 2572T>C UCEC-US 7 11014563 11014563 single base substitution G A exon_variant UCEC-US 7 11014563 11014563 single base substitution G A missense_variant D35N 103G>A UCEC-US 7 11014563 11014563 single base substitution G A synonymous_variant E12E 36G>A UCEC-US 7 11022148 11022148 single base substitution G T exon_variant UCEC-US 7 11022148 11022148 single base substitution G T intron_variant UCEC-US 7 11022148 11022148 single base substitution G T stop_gained E88* 262G>T UCEC-US 7 11022400 11022400 single base substitution G A exon_variant UCEC-US 7 11022400 11022400 single base substitution G A intron_variant UCEC-US 7 11022400 11022400 single base substitution G A missense_variant A172T 514G>A UCEC-US 7 11022445 11022445 single base substitution C T exon_variant UCEC-US 7 11022445 11022445 single base substitution C T intron_variant UCEC-US 7 11022445 11022445 single base substitution C T stop_gained R187* 559C>T UCEC-US 7 11022692 11022692 single base substitution A C exon_variant UCEC-US 7 11022692 11022692 single base substitution A C intron_variant UCEC-US 7 11022692 11022692 single base substitution A C missense_variant K269T 806A>C UCEC-US 7 11022706 11022706 single base substitution A G exon_variant UCEC-US 7 11022706 11022706 single base substitution A G intron_variant UCEC-US 7 11022706 11022706 single base substitution A G missense_variant K274E 820A>G UCEC-US 7 11030443 11030443 single base substitution G A 3_prime_UTR_variant UCEC-US 7 11030443 11030443 single base substitution G A exon_variant UCEC-US 7 11030443 11030443 single base substitution G A synonymous_variant Q338Q 1014G>A UCEC-US 7 11030443 11030443 single base substitution G A synonymous_variant Q53Q 159G>A UCEC-US 7 11053398 11053398 single base substitution G T 3_prime_UTR_variant UCEC-US 7 11053398 11053398 single base substitution G T exon_variant UCEC-US 7 11053398 11053398 single base substitution G T missense_variant S357I 1070G>T UCEC-US 7 11053398 11053398 single base substitution G T missense_variant S72I 215G>T UCEC-US 7 11053398 11053398 single base substitution G T upstream_gene_variant UCEC-US 7 11068419 11068421 deletion of <=200bp CTG - 3_prime_UTR_variant UCEC-US 7 11068419 11068421 deletion of <=200bp CTG - downstream_gene_variant UCEC-US 7 11068419 11068421 deletion of <=200bp CTG - exon_variant UCEC-US 7 11068419 11068421 deletion of <=200bp CTG - inframe_deletion L192 UCEC-US 7 11068419 11068421 deletion of <=200bp CTG - inframe_deletion L477 UCEC-US 7 11075334 11075334 single base substitution G T 3_prime_UTR_variant UCEC-US 7 11075334 11075334 single base substitution G T exon_variant UCEC-US 7 11075334 11075334 single base substitution G T missense_variant R223I 668G>T UCEC-US 7 11075334 11075334 single base substitution G T missense_variant R508I 1523G>T UCEC-US 7 11075380 11075381 deletion of <=200bp AG - 3_prime_UTR_variant UCEC-US 7 11075380 11075381 deletion of <=200bp AG - exon_variant UCEC-US 7 11075380 11075381 deletion of <=200bp AG - frameshift_variant QE238 UCEC-US 7 11075380 11075381 deletion of <=200bp AG - frameshift_variant QE523 UCEC-US 7 11076623 11076623 single base substitution C T 3_prime_UTR_variant UCEC-US 7 11076623 11076623 single base substitution C T downstream_gene_variant UCEC-US 7 11076623 11076623 single base substitution C T exon_variant UCEC-US 7 11076623 11076623 single base substitution C T missense_variant R344C 1030C>T UCEC-US 7 11076623 11076623 single base substitution C T missense_variant R629C 1885C>T UCEC-US 7 11078433 11078433 single base substitution G A 3_prime_UTR_variant UCEC-US 7 11078433 11078433 single base substitution G A downstream_gene_variant UCEC-US 7 11078433 11078433 single base substitution G A exon_variant UCEC-US 7 11078433 11078433 single base substitution G A missense_variant R391Q 1172G>A UCEC-US 7 11078433 11078433 single base substitution G A missense_variant R676Q 2027G>A UCEC-US 7 11078433 11078433 single base substitution G A upstream_gene_variant UCEC-US 7 11082323 11082325 deletion of <=200bp AAG - 3_prime_UTR_variant UCEC-US 7 11082323 11082325 deletion of <=200bp AAG - exon_variant UCEC-US 7 11082323 11082325 deletion of <=200bp AAG - inframe_deletion K447 UCEC-US 7 11082323 11082325 deletion of <=200bp AAG - inframe_deletion K732 UCEC-US 7 11082384 11082384 single base substitution T C 3_prime_UTR_variant UCEC-US 7 11082384 11082384 single base substitution T C exon_variant UCEC-US 7 11082384 11082384 single base substitution T C missense_variant L467P 1400T>C UCEC-US 7 11082384 11082384 single base substitution T C missense_variant L752P 2255T>C UCEC-US 7 11091322 11091322 single base substitution G A 3_prime_UTR_variant UCEC-US 7 11091322 11091322 single base substitution G A exon_variant UCEC-US 7 11091322 11091322 single base substitution G A missense_variant R514Q 1541G>A UCEC-US 7 11091322 11091322 single base substitution G A missense_variant R799Q 2396G>A UCEC-US 7 11151056 11151056 single base substitution G T 3_prime_UTR_variant UCEC-US 7 11151056 11151056 single base substitution G T exon_variant UCEC-US 7 11151056 11151056 single base substitution G T stop_gained G627* 1879G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A16J-01 COSM1084037 c.110C>A p.S37* Substitution - Nonsense 7:10974943-10974943 + Pat_37_B COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + TCGA-EE-A181-06 COSM3631916 c.1148C>T p.P383L Substitution - Missense 7:11013849-11013849 + TCGA-AP-A056-01 COSM1084038 c.262G>T p.E88* Substitution - Nonsense 7:10982521-10982521 + GCT27 COSM5749405 c.2223A>T p.L741F Substitution - Missense 7:11042725-11042725 + ESCC_112 COSM5639525 c.1494T>A p.H498Q Substitution - Missense 7:11035678-11035678 + T3021 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + BD57T COSM5509607 c.2734G>A p.G912R Substitution - Missense 7:11111429-11111429 + PD2207a COSM28418 c.547delT p.W183fs*18 Deletion - Frameshift 7:10982806-10982806 + LUAD-S01409 COSM346871 c.841G>A p.A281T Substitution - Missense 7:10983100-10983100 + RK140_C01 COSM3703110 c.1619G>T p.R540L Substitution - Missense 7:11036434-11036434 + TCGA-BR-6452-01 COSM3877224 c.2572T>C p.L858L Substitution - coding silent 7:11062003-11062003 + TCGA-ER-A194-01 COSM3631931 c.2548G>A p.E850K Substitution - Missense 7:11061979-11061979 + 587332 COSM1220338 c.71A>C p.D24A Substitution - Missense 7:10974904-10974904 + LUAD-D02085 COSM363427 c.1110A>T p.E370D Substitution - Missense 7:11013811-11013811 + TCGA-A7-A13D-01 COSM452151 c.264A>G p.E88E Substitution - coding silent 7:10982523-10982523 + CSCC-31-T COSM4498133 c.512C>T p.T171I Substitution - Missense 7:10982771-10982771 + 587332 COSM1220339 c.2612G>A p.C871Y Substitution - Missense 7:11062043-11062043 + CHC798T COSM4950758 c.112G>C p.D38H Substitution - Missense 7:10974945-10974945 + T1154 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + SNUH_G45_S1 COSM4004252 c.678G>A p.A226A Substitution - coding silent 7:10982937-10982937 + TCGA-AZ-6598-01 COSM5140766 c.401delA p.E136fs*65 Deletion - Frameshift 7:10982660-10982660 + TCGA-CM-4743-01 COSM1447278 c.1947T>C p.N649N Substitution - coding silent 7:11037058-11037058 + LUAD-RT-S01832 COSM384684 c.723T>C p.D241D Substitution - coding silent 7:10982982-10982982 + Gp5D COSM3255761 c.1296C>T p.N432N Substitution - coding silent 7:11022958-11022958 + LS411 COSM3255864 c.2047T>C p.W683R Substitution - Missense 7:11038826-11038826 + LUAD_E00522 COSM353468 c.2749G>T p.E917* Substitution - Nonsense 7:11111444-11111444 + TCGA-D1-A17M-01 COSM1084040 c.559C>T p.R187* Substitution - Nonsense 7:10982818-10982818 + TCGA-BS-A0UJ-01 COSM1084072 c.2255T>C p.L752P Substitution - Missense 7:11042757-11042757 + TCGA-EE-A182-06 COSM3631911 c.556C>T p.R186* Substitution - Nonsense 7:10982815-10982815 + I2L-P16-Tumor-Biopsy COSM5358032 c.1636G>A p.A546T Substitution - Missense 7:11036451-11036451 + YUMUL COSM5406231 c.1611C>G p.I537M Substitution - Missense 7:11036426-11036426 + TCGA-46-3769-01 COSM744149 c.205G>T p.E69* Substitution - Nonsense 7:10982464-10982464 + PD2207a COSM27603 c.546delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + Gp2D COSM3255761 c.1296C>T p.N432N Substitution - coding silent 7:11022958-11022958 + RK243_C01 COSM4779927 c.1455+4G>A p.? Unknown 7:11028822-11028822 + PT32 COSM5907456 c.251C>T p.S84F Substitution - Missense 7:10982510-10982510 + YUKAT COSM5406233 c.2533-1G>A p.? Unknown 7:11061963-11061963 + Pat_06_A COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + I2L-P16-Tumor-Organoid COSM5358032 c.1636G>A p.A546T Substitution - Missense 7:11036451-11036451 + RKO COSM3255746 c.1046G>T p.G349V Substitution - Missense 7:11013747-11013747 + CN-AML-CR-18-Dx COSM5428058 c.2817C>T p.L939L Substitution - coding silent 7:11169460-11169460 + TCGA-CZ-5459-01 COSM484633 c.1886G>C p.R629P Substitution - Missense 7:11036997-11036997 + SNU-C1 COSM3255725 c.457C>G p.P153A Substitution - Missense 7:10982716-10982716 + TCGA-D1-A103-01 COSM1084039 c.514G>A p.A172T Substitution - Missense 7:10982773-10982773 + TCGA-AP-A051-01 COSM1084039 c.514G>A p.A172T Substitution - Missense 7:10982773-10982773 + 587342 COSM1220341 c.1448C>T p.A483V Substitution - Missense 7:11028811-11028811 + TCGA-B2-5635-01 COSM484631 c.1713C>T p.S571S Substitution - coding silent 7:11036528-11036528 + 71 COSM4778200 c.463A>C p.T155P Substitution - Missense 7:10982722-10982722 + TCGA-BH-A18G-01 COSM3831627 c.1485T>C p.C495C Substitution - coding silent 7:11035669-11035669 + CSCC-27-T COSM3631922 c.1729C>T p.R577C Substitution - Missense 7:11036544-11036544 + S01170 COSM5193634 c.1852G>T p.D618Y Substitution - Missense 7:11036667-11036667 + ASHPC_0013_Pa_P COSM1312575 c.1730G>A p.R577H Substitution - Missense 7:11036545-11036545 + TCGA-AC-A23H-01 COSM1084073 c.2396G>A p.R799Q Substitution - Missense 7:11051695-11051695 + PCSI_0302_Pa_P_526 COSM4965285 c.531C>T p.V177V Substitution - coding silent 7:10982790-10982790 + TCGA-46-3769-01 COSM744135 c.2004A>G p.L668L Substitution - coding silent 7:11038783-11038783 + TCGA-B5-A11H-01 COSM1084071 c.2194_2196delAAG p.K733delK Deletion - In frame 7:11042696-11042698 + AOCS-034-3-8 COSM4153755 c.1604C>G p.A535G Substitution - Missense 7:11036419-11036419 + CHC322T COSM4407052 c.2773-10T>G p.? Unknown 7:11169406-11169406 + TCGA-AP-A056-01 COSM1084041 c.806A>C p.K269T Substitution - Missense 7:10983065-10983065 + DLD1 COSM3255866 c.2137G>A p.G713R Substitution - Missense 7:11040732-11040732 + T3024 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + T3503 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + 2734_T COSM3949746 c.1054G>T p.G352* Substitution - Nonsense 7:11013755-11013755 + 394 COSM3723033 c.2567C>T p.S856F Substitution - Missense 7:11061998-11061998 + 587316 COSM1220337 c.2678A>G p.Y893C Substitution - Missense 7:11111373-11111373 + TCGA-C8-A12Q-01 COSM452153 c.921G>C p.K307N Substitution - Missense 7:10990723-10990723 + NCI-H727 COSM3255760 c.1271G>A p.R424Q Substitution - Missense 7:11022933-11022933 + Pat_41_B COSM5871564 c.2590G>A p.A864T Substitution - Missense 7:11062021-11062021 + TCGA-EE-A29D-06 COSM3631920 c.1681C>T p.P561S Substitution - Missense 7:11036496-11036496 + TCGA-B5-A0JN-01 COSM1084070 c.2104G>A p.A702T Substitution - Missense 7:11040699-11040699 + BD236T COSM1312575 c.1730G>A p.R577H Substitution - Missense 7:11036545-11036545 + TCGA-HU-A4GQ-01 COSM3877188 c.1211T>A p.V404D Substitution - Missense 7:11022873-11022873 + HN_62897 COSM125332 c.1176T>A p.D392E Substitution - Missense 7:11013877-11013877 + S02139 COSM5674586 c.734G>C p.G245A Substitution - Missense 7:10982993-10982993 + CSCC-62-T COSM4481480 c.2512C>T p.P838S Substitution - Missense 7:11061821-11061821 + S0057 COSM5884462 c.1094C>A p.S365Y Substitution - Missense 7:11013795-11013795 + TCGA-BH-A18G-01 COSM3831625 c.618T>C p.Y206Y Substitution - coding silent 7:10982877-10982877 + HCC048T COSM5820627 c.2103A>C p.R701R Substitution - coding silent 7:11040698-11040698 + S02322 COSM5691534 c.502A>T p.T168S Substitution - Missense 7:10982761-10982761 + CHC805T COSM4954196 c.2801A>G p.N934S Substitution - Missense 7:11169444-11169444 + T3505 COSM4713926 c.1445C>T p.A482V Substitution - Missense 7:11028808-11028808 + TCGA-AG-A02N-01 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + TCGA-B5-A11N-01 COSM1084069 c.2027G>A p.R676Q Substitution - Missense 7:11038806-11038806 + PD9423a COSM3720575 c.2254C>A p.L752I Substitution - Missense 7:11042756-11042756 + TCGA-EE-A2MG-06 COSM3631933 c.2582A>G p.K861R Substitution - Missense 7:11062013-11062013 + OSCC-GB_00190111 COSM3715667 c.145G>T p.A49S Substitution - Missense 7:10982404-10982404 + ESCC_55 COSM3255734 c.807G>A p.K269K Substitution - coding silent 7:10983066-10983066 + TCGA-FP-A4BE-01 COSM3877185 c.971T>C p.V324A Substitution - Missense 7:10990773-10990773 + HCC007T COSM5809017 c.1482T>G p.Y494* Substitution - Nonsense 7:11035666-11035666 + PD14441a COSM5767809 c.1882A>T p.M628L Substitution - Missense 7:11036993-11036993 + Pat_06_B COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + TCGA-EI-6507-01 COSM1447273 c.941delA p.M316fs*5 Deletion - Frameshift 7:10990743-10990743 + PDA_032 COSM4999583 c.44C>A p.A15D Substitution - Missense 7:10974877-10974877 + SNUH_G26_S1 COSM3684978 c.1456-4A>C p.? Unknown 7:11035636-11035636 + TCGA-EE-A3J5-06 COSM3631922 c.1729C>T p.R577C Substitution - Missense 7:11036544-11036544 + TCGA-HU-A4H3-01 COSM3877222 c.2481G>T p.T827T Substitution - coding silent 7:11051780-11051780 + ESCC_15 COSM5625695 c.1213C>T p.H405Y Substitution - Missense 7:11022875-11022875 + LUAD-B01811 COSM334751 c.2415_2416GG>TT p.K805>? Complex 7:11051714-11051715 + CHC314T COSM4950303 c.1829A>G p.H610R Substitution - Missense 7:11036644-11036644 + T2269 COSM3255732 c.566G>A p.R189Q Substitution - Missense 7:10982825-10982825 + LC_C3 COSM1187263 c.437C>A p.A146D Substitution - Missense 7:10982696-10982696 + 587342 COSM1220342 c.1618C>T p.R540W Substitution - Missense 7:11036433-11036433 + TCGA-AP-A059-01 COSM1084046 c.1070G>T p.S357I Substitution - Missense 7:11013771-11013771 + STC243 COSM5062109 c.299A>G p.E100G Substitution - Missense 7:10982558-10982558 + TCGA-BR-8680-01 COSM3877218 c.2400A>G p.S800S Substitution - coding silent 7:11051699-11051699 + T3535 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + PTC-28C COSM4161727 c.456A>C p.T152T Substitution - coding silent 7:10982715-10982715 + HN_00190 COSM125333 c.1676G>T p.W559L Substitution - Missense 7:11036491-11036491 + 05-P8014 COSM4587053 c.2369T>C p.M790T Substitution - Missense 7:11051668-11051668 + PD4601a COSM163439 c.163G>A p.E55K Substitution - Missense 7:10982422-10982422 + 3N48-VS-3T48 COSM4982804 c.2480C>T p.T827M Substitution - Missense 7:11051779-11051779 + PD11393a COSM5773234 c.1205+8T>A p.? Unknown 7:11013914-11013914 + 4_PRE-TREATMENT COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + CSCC-16-T COSM3729944 c.2128delA p.E712fs*97 Deletion - Frameshift 7:11040723-11040723 + TCGA-EE-A2MR-06 COSM3631918 c.1654C>T p.R552* Substitution - Nonsense 7:11036469-11036469 + ME024T COSM226172 c.1658C>G p.S553C Substitution - Missense 7:11036473-11036473 + ATL059 COSM5710305 c.74G>C p.S25T Substitution - Missense 7:10974907-10974907 + TCGA-AA-3715-01 COSM293664 c.877C>A p.L293I Substitution - Missense 7:10983136-10983136 + pfg122T COSM4746675 c.1181delT p.F395fs*21 Deletion - Frameshift 7:11013882-11013882 + HCC149T COSM5817303 c.748G>A p.E250K Substitution - Missense 7:10983007-10983007 + ESCC_109 COSM5639122 c.82G>A p.D28N Substitution - Missense 7:10974915-10974915 + PD11340a COSM5772937 c.2383G>A p.D795N Substitution - Missense 7:11051682-11051682 + PR-3026 COSM246563 c.1739T>C p.M580T Substitution - Missense 7:11036554-11036554 + 600 COSM3723031 c.344A>G p.K115R Substitution - Missense 7:10982603-10982603 + HCT15 COSM3255866 c.2137G>A p.G713R Substitution - Missense 7:11040732-11040732 + TCGA-AG-A002-01 COSM262917 c.1261G>T p.D421Y Substitution - Missense 7:11022923-11022923 + TCGA-F5-6814-01 COSM3431099 c.1969G>T p.E657* Substitution - Nonsense 7:11037080-11037080 + Pat_41_B COSM5871561 c.1817G>A p.G606E Substitution - Missense 7:11036632-11036632 + 260211 COSM3725785 c.1711A>G p.S571G Substitution - Missense 7:11036526-11036526 + TCGA-AG-A026-01 COSM5074062 c.2576delA p.K860fs*8 Deletion - Frameshift 7:11062007-11062007 + TCGA-D1-A16N-01 COSM1084050 c.1429_1431delCTG p.L478delL Deletion - In frame 7:11028792-11028794 + TCGA-66-2758-01 COSM744146 c.1520A>G p.K507R Substitution - Missense 7:11035704-11035704 + TCGA-AP-A056-01 COSM1084051 c.1523G>T p.R508I Substitution - Missense 7:11035707-11035707 + 587350 COSM1220340 c.1616C>T p.A539V Substitution - Missense 7:11036431-11036431 + TCGA-EI-6882-01 COSM3431092 c.643C>T p.R215* Substitution - Nonsense 7:10982902-10982902 + ESCC_75 COSM5625695 c.1213C>T p.H405Y Substitution - Missense 7:11022875-11022875 + ESCC_14 COSM4161727 c.456A>C p.T152T Substitution - coding silent 7:10982715-10982715 + TCGA-EI-6882-01 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + YUKAT COSM5406229 c.1210G>A p.V404I Substitution - Missense 7:11022872-11022872 + S01366 COSM5668312 c.128G>T p.G43V Substitution - Missense 7:10982387-10982387 + ICGC_MB89 COSM3765305 c.1045+2T>C p.? Unknown 7:10990849-10990849 + TCGA-B5-A11H-01 COSM1084093 c.2734G>T p.G912* Substitution - Nonsense 7:11111429-11111429 + sysucc-274T COSM5476726 c.506C>T p.T169M Substitution - Missense 7:10982765-10982765 + CHC805T COSM4954196 c.2801A>G p.N934S Substitution - Missense 7:11169444-11169444 + ESCC_BICR_047T COSM5430456 c.532A>G p.S178G Substitution - Missense 7:10982791-10982791 + CHEWS021 COSM4587051 c.1608G>A p.R536R Substitution - coding silent 7:11036423-11036423 + TCGA-D5-6932-01 COSM1447280 c.2109C>G p.P703P Substitution - coding silent 7:11040704-11040704 + CN-AML-CR-6-Dx COSM3723031 c.344A>G p.K115R Substitution - Missense 7:10982603-10982603 + SC_9034 COSM4713928 c.1523_1524insA p.N510fs*10 Insertion - Frameshift 7:11035707-11035708 + Pat_36_B COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + S02322 COSM5691532 c.329G>C p.R110T Substitution - Missense 7:10982588-10982588 + TCGA-AN-A046-01 COSM1084069 c.2027G>A p.R676Q Substitution - Missense 7:11038806-11038806 + TCGA-AP-A0LM-01 COSM1084068 c.1885C>T p.R629C Substitution - Missense 7:11036996-11036996 + TCGA-FW-A3R5-06 COSM598367 c.1342C>T p.R448C Substitution - Missense 7:11028705-11028705 + TCGA-AG-3592-01 COSM3431094 c.941A>C p.Q314P Substitution - Missense 7:10990743-10990743 + TCGA-AP-A0LM-01 COSM1084036 c.103G>A p.D35N Substitution - Missense 7:10974936-10974936 + Pat_40_A COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + TCGA-ED-A7PZ-01 COSM4917008 c.1040A>G p.H347R Substitution - Missense 7:10990842-10990842 + PD4970a COSM5768587 c.2290A>G p.R764G Substitution - Missense 7:11042792-11042792 + TCGA-D5-6930-01 COSM1447270 c.271T>C p.S91P Substitution - Missense 7:10982530-10982530 + TCGA-CM-6162-01 COSM1447275 c.1427G>C p.G476A Substitution - Missense 7:11028790-11028790 + PT38 COSM5922637 c.2178T>G p.Y726* Substitution - Nonsense 7:11040773-11040773 + PT35 COSM5912674 c.2170G>A p.V724I Substitution - Missense 7:11040765-11040765 + SA073 COSM213323 c.2755G>A p.D919N Substitution - Missense 7:11111450-11111450 + HCT116 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + BN05T COSM1622216 c.2532+9delA p.? Unknown 7:11061850-11061850 + ESCC_3 COSM4161727 c.456A>C p.T152T Substitution - coding silent 7:10982715-10982715 + CHC314T COSM4950303 c.1829A>G p.H610R Substitution - Missense 7:11036644-11036644 + TCGA-D3-A51G-06 COSM3631913 c.810G>A p.K270K Substitution - coding silent 7:10983069-10983069 + LP6007394-DNA_A01 COSM5952623 c.1080T>C p.I360I Substitution - coding silent 7:11013781-11013781 + AOCS-166-1-2 COSM4153759 c.2841G>C p.K947N Substitution - Missense 7:11169484-11169484 + TCGA-AA-3715-01 COSM269878 c.1154G>A p.C385Y Substitution - Missense 7:11013855-11013855 + DLD1 COSM4611662 c.540delA p.K182fs*19 Deletion - Frameshift 7:10982799-10982799 + KM12 COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + SNUH_G76_S1 COSM4417183 c.2334G>A p.Q778Q Substitution - coding silent 7:11051633-11051633 + TCGA-AX-A05Z-01 COSM1084073 c.2396G>A p.R799Q Substitution - Missense 7:11051695-11051695 + sysucc-783T COSM5476726 c.506C>T p.T169M Substitution - Missense 7:10982765-10982765 + TCGA-AG-3902-01 COSM258796 c.446C>G p.A149G Substitution - Missense 7:10982705-10982705 + PTC-515C COSM4161727 c.456A>C p.T152T Substitution - coding silent 7:10982715-10982715 + 169 COSM3729944 c.2128delA p.E712fs*97 Deletion - Frameshift 7:11040723-11040723 + CHC798T COSM4950758 c.112G>C p.D38H Substitution - Missense 7:10974945-10974945 + TCGA-33-4532-01 COSM744134 c.2030G>A p.S677N Substitution - Missense 7:11038809-11038809 + TCGA-BR-8680-01 COSM3877191 c.1851A>C p.A617A Substitution - coding silent 7:11036666-11036666 + TCGA-FD-A3N6-01 COSM1312575 c.1730G>A p.R577H Substitution - Missense 7:11036545-11036545 + ESCC_11 COSM5624658 c.1258A>T p.I420F Substitution - Missense 7:11022920-11022920 + TCGA-EI-6507-01 COSM1568689 c.2500C>T p.R834* Substitution - Nonsense 7:11061809-11061809 + TCGA-BR-4257-01 COSM3877182 c.165A>C p.E55D Substitution - Missense 7:10982424-10982424 + Pat_34_A COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + PM-6 COSM5620061 c.406G>A p.E136K Substitution - Missense 7:10982665-10982665 + MZ7-mel COSM25347 c.1961T>C p.L654P Substitution - Missense 7:11037072-11037072 + PD11402a COSM5770092 c.49C>G p.L17V Substitution - Missense 7:10974882-10974882 + 19T COSM3715667 c.145G>T p.A49S Substitution - Missense 7:10982404-10982404 + TCGA-AP-A054-01 COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + TCGA-AA-3511-01 COSM1447271 c.292A>T p.K98* Substitution - Nonsense 7:10982551-10982551 + TCGA-BR-4256-01 COSM3877216 c.2092G>A p.A698T Substitution - Missense 7:11040687-11040687 + YUHAMA COSM5406227 c.963T>G p.I321M Substitution - Missense 7:10990765-10990765 + TCGA-FS-A4FC-06 COSM3631918 c.1654C>T p.R552* Substitution - Nonsense 7:11036469-11036469 + T3535 COSM4713928 c.1523_1524insA p.N510fs*10 Insertion - Frameshift 7:11035707-11035708 + TCGA-D8-A13Y-01 COSM452152 c.598C>T p.L200L Substitution - coding silent 7:10982857-10982857 + 938T COSM5825123 c.2733C>T p.Y911Y Substitution - coding silent 7:11111428-11111428 + Pat_40_B COSM5871585 c.2791G>A p.E931K Substitution - Missense 7:11169434-11169434 + Pat_70_B COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + TCGA-D1-A103-01 COSM1084042 c.820A>G p.K274E Substitution - Missense 7:10983079-10983079 + TCGA-CA-6718-01 COSM1447272 c.644G>A p.R215Q Substitution - Missense 7:10982903-10982903 + Pat_41_B COSM1084052 c.1569_1570delAG p.K527fs*51 Deletion - Frameshift 7:11035753-11035754 + TCGA-EE-A2M5-06 COSM3631926 c.1785G>A p.V595V Substitution - coding silent 7:11036600-11036600 + TCGA-CM-5861-01 COSM1447277 c.1692A>T p.K564N Substitution - Missense 7:11036507-11036507 + SC_9049 COSM5558220 c.1923G>C p.K641N Substitution - Missense 7:11037034-11037034 + UM-SCC-17B COSM4598379 c.1522A>T p.R508* Substitution - Nonsense 7:11035706-11035706 + TCGA-D3-A2JC-06 COSM3631992 c.2802T>C p.N934N Substitution - coding silent 7:11169445-11169445 + T407 COSM3255730 c.539_540insA p.W183fs*20 Insertion - Frameshift 7:10982798-10982799 + 587238 COSM1084039 c.514G>A p.A172T Substitution - Missense 7:10982773-10982773 + TCGA-BR-A4J1-01 COSM3877220 c.2452G>C p.E818Q Substitution - Missense 7:11051751-11051751 + TCGA-B0-4827-01 COSM484634 c.2016T>G p.N672K Substitution - Missense 7:11038795-11038795 + 587376 COSM1220343 c.1937A>C p.K646T Substitution - Missense 7:11037048-11037048 + TCGA-D1-A174-01 COSM1084044 c.1014G>A p.Q338Q Substitution - coding silent 7:10990816-10990816 + TCGA-29-1691-01 COSM1330177 c.539C>T p.P180L Substitution - Missense 7:10982798-10982798 + TCGA-DA-A1HV-06 COSM3631924 c.1781C>T p.P594L Substitution - Missense 7:11036596-11036596 + S02404 COSM5700913 c.1620G>T p.R540R Substitution - coding silent 7:11036435-11036435 + TCGA-AP-A056-01 COSM1084069 c.2027G>A p.R676Q Substitution - Missense 7:11038806-11038806 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655686;Hs.655687;Hs.655688 7p21.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - InFrameDeletion p.K272delK c.815_817delAGA 7 11022691 THCA AAG - InFrameDeletion p.K733delK c.2199_2201delGAA 7 11082323 UCEC A C IntronicSNV . c.1205+411A>C 7 11053944 CLL A C IntronicSNV . c.2654+314A>C 7 11102026 HC A C Missense p.E55D c.165A>C 7 11022051 STAD A G 5-UTRSNV . c.1-400A>G 7 11013551 MB AG - Frameshift p.K527Afs*51 c.1578_1579delGA 7 11075380 UCEC A G Missense p.K507R c.1520A>G 7 11075331 LUSC A G Missense p.K861R c.2582A>G 7 11101640 CM A G Synonymous p.E88E c.264A>G 7 11022150 BRCA A G Synonymous p.L668L c.2004A>G 7 11078410 LUSC A G Synonymous p.L867L c.2601A>G 7 11101659 CM A T Nonsense p.K274* c.820A>T 7 11022706 LUAD A T Synonymous p.S479S c.1437A>T 7 11068427 LUAD C G 3-UTRSNV . c.2664+512C>G 7 11142634 CLL C G Missense p.A149G c.446C>G 7 11022332 COREAD C G Missense p.S553C c.1658C>G 7 11076100 CM CTATTTTTT - IntronicDeletion . c.2655-19024_2655-19016delCTATTTTTT 7 11123089 CLL CTG - InFrameDeletion p.L478delL c.1431_1433delGCT 7 11068419 UCEC C T IntronicSNV . c.1046-6888C>T 7 11046486 CM C T IntronicSNV . c.1046-7075C>T 7 11046299 CM C T Missense p.A159V c.476C>T 7 11022362 CM C T Missense p.P383L c.1148C>T 7 11053476 CM C T Missense p.P594L c.1781C>T 7 11076223 CM C T Missense p.R448C c.1342C>T 7 11068332 LUAD C T Missense p.R577C c.1729C>T 7 11076171 CM C T Missense p.S294F c.881C>T 7 11022767 LUAD C T Missense p.S530L c.1589C>T 7 11075400 CM C T Nonsense p.R186* c.556C>T 7 11022442 CM C T Nonsense p.R187* c.559C>T 7 11022445 UCEC C T Synonymous p.L200L c.598C>T 7 11022484 BRCA C T Synonymous p.L514L c.1540C>T 7 11075351 CM G A Missense p.A698T c.2092G>A 7 11080314 STAD G A Missense p.E55K c.163G>A 7 11022049 BRCA G A Missense p.E850K c.2548G>A 7 11101606 CM G A Missense p.R577H c.1730G>A 7 11076172 BLCA G A Missense p.S677N c.2030G>A 7 11078436 LUSC G A Synonymous p.Q338Q c.1014G>A 7 11030443 UCEC G A Synonymous p.V595V c.1785G>A 7 11076227 CM G C 3-UTRSNV . c.2664+200G>C 7 11142322 DLBCL G C Missense p.K307N c.921G>C 7 11030350 BRCA G C Missense p.R629P c.1886G>C 7 11076624 RCCC G T Missense p.C458F c.1373G>T 7 11068363 LUAD G T Missense p.W559L c.1676G>T 7 11076118 HNSC G T Nonsense p.E440* c.1318G>T 7 11068308 LUAD G T Nonsense p.E68* c.202G>T 7 11022088 LUAD G T Nonsense p.E69* c.205G>T 7 11022091 LUSC T A Missense p.D392E c.1176T>A 7 11053504 HNSC T C IntronicSNV . c.1046-7276T>C 7 11046098 CM T G Missense p.N672K c.2016T>G 7 11078422 RCCC T G Synonymous p.S84S c.252T>G 7 11022138 LUAD TTTTTTTG - IntronicDeletion . c.2655-19007_2655-19000delTTTTTTTG 7 11123106 CLL