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 ACC 14 51492067 51492067 + Silent SNP G G T TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr14:51492067G>T c.834C>A c.(832-834)tcC>tcA p.S278S ACC 14 51561207 51561207 + Missense_Mutation SNP G G T TCGA-P6-A5OH-01A-11D-A30A-10 TCGA-P6-A5OH-11A-01D-A30A-10 g.chr14:51561207G>T c.451C>A c.(451-453)Ctg>Atg p.L151M BLCA 14 51446213 51446213 + Silent SNP A A G TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr14:51446213A>G c.1962T>C c.(1960-1962)aaT>aaC p.N654N BLCA 14 51464808 51464808 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr14:51464808G>A c.1563C>T c.(1561-1563)gtC>gtT p.V521V BLCA 14 51475822 51475822 + Nonsense_Mutation SNP G G A TCGA-FD-A5C1-01A-11D-A289-08 TCGA-FD-A5C1-10A-01D-A289-08 g.chr14:51475822G>A c.1282C>T c.(1282-1284)Cag>Tag p.Q428* BLCA 14 51561002 51561002 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr14:51561002C>T c.656G>A c.(655-657)cGg>cAg p.R219Q BLCA 14 51561040 51561040 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr14:51561040C>A c.618G>T c.(616-618)aaG>aaT p.K206N BLCA 14 51561050 51561050 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr14:51561050G>T c.608C>A c.(607-609)cCc>cAc p.P203H BLCA 14 51561204 51561204 + Missense_Mutation SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr14:51561204C>T c.454G>A c.(454-456)Gaa>Aaa p.E152K BRCA 14 51444032 51444032 + Missense_Mutation SNP A A T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 g.chr14:51444032A>T c.2110T>A c.(2110-2112)Tcc>Acc p.S704T BRCA 14 51446185 51446185 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr14:51446185C>T c.1990G>A c.(1990-1992)Gat>Aat p.D664N BRCA 14 51448553 51448553 + Silent SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr14:51448553C>G c.1872G>C c.(1870-1872)cgG>cgC p.R624R BRCA 14 51467550 51467550 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr14:51467550G>A c.1315C>T c.(1315-1317)Cca>Tca p.P439S BRCA 14 51560947 51560947 + Silent SNP G G A TCGA-BH-A209-01A-11D-A17G-09 TCGA-BH-A209-11A-42D-A17G-09 g.chr14:51560947G>A c.711C>T c.(709-711)caC>caT p.H237H BRCA 14 51561358 51561358 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 g.chr14:51561358G>A c.300C>T c.(298-300)cgC>cgT p.R100R CESC 14 51446219 51446219 + Missense_Mutation SNP G G T TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 g.chr14:51446219G>T c.1956C>A c.(1954-1956)gaC>gaA p.D652E CESC 14 51464737 51464737 + Intron SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr14:51464737C>T CESC 14 51467440 51467440 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr14:51467440G>T c.1425C>A c.(1423-1425)taC>taA p.Y475* CESC 14 51467466 51467466 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr14:51467466G>C c.1399C>G c.(1399-1401)Ctg>Gtg p.L467V CESC 14 51467500 51467500 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 g.chr14:51467500G>A c.1365C>T c.(1363-1365)aaC>aaT p.N455N CESC 14 51477205 51477205 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr14:51477205C>G c.1049G>C c.(1048-1050)cGa>cCa p.R350P CESC 14 51561087 51561087 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 g.chr14:51561087C>G c.571G>C c.(571-573)Gat>Cat p.D191H CESC 14 51561129 51561129 + Missense_Mutation SNP C C T TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 g.chr14:51561129C>T c.529G>A c.(529-531)Gaa>Aaa p.E177K CESC 14 51561606 51561606 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr14:51561606G>A c.52C>T c.(52-54)Cgg>Tgg p.R18W CHOL 14 51492033 51492033 + Nonsense_Mutation SNP C C A TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr14:51492033C>A c.868G>T c.(868-870)Gaa>Taa p.E290* COAD 14 51444036 51444036 + Silent SNP G G A TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr14:51444036G>A c.2106C>T c.(2104-2106)ttC>ttT p.F702F COAD 14 51446149 51446149 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr14:51446149C>A c.2026G>T c.(2026-2028)Gag>Tag p.E676* COAD 14 51448530 51448530 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr14:51448530G>A c.1895C>T c.(1894-1896)tCg>tTg p.S632L COAD 14 51448608 51448608 + Missense_Mutation SNP T T C TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr14:51448608T>C c.1817A>G c.(1816-1818)gAt>gGt p.D606G COAD 14 51448629 51448629 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:51448629G>A c.1796C>T c.(1795-1797)gCt>gTt p.A599V COAD 14 51448749 51448749 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:51448749G>A c.1676C>T c.(1675-1677)aCc>aTc p.T559I COAD 14 51448791 51448791 + Missense_Mutation SNP G G A TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr14:51448791G>A c.1634C>T c.(1633-1635)gCg>gTg p.A545V COAD 14 51464729 51464729 + Intron SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr14:51464729G>A COAD 14 51464729 51464729 + Intron SNP G G A TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr14:51464729G>A COAD 14 51467494 51467494 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:51467494G>A c.1371C>T c.(1369-1371)agC>agT p.S457S COAD 14 51467558 51467558 + Splice_Site SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr14:51467558G>A c.1307C>T c.(1306-1308)gCt>gTt p.A436V COAD 14 51475905 51475905 + Nonsense_Mutation SNP C C T TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr14:51475905C>T c.1199G>A c.(1198-1200)tGg>tAg p.W400* COAD 14 51560956 51560956 + Silent SNP C C T TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr14:51560956C>T c.702G>A c.(700-702)ctG>ctA p.L234L COAD 14 51561036 51561036 + Missense_Mutation SNP G G C TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr14:51561036G>C c.622C>G c.(622-624)Cgc>Ggc p.R208G COAD 14 51561112 51561112 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr14:51561112G>A c.546C>T c.(544-546)tgC>tgT p.C182C COAD 14 51561330 51561330 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:51561330C>T c.328G>A c.(328-330)Gcc>Acc p.A110T COAD 14 51561385 51561385 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:51561385C>T c.273G>A c.(271-273)ccG>ccA p.P91P COAD 14 51561588 51561588 + Missense_Mutation SNP G G C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr14:51561588G>C c.70C>G c.(70-72)Ccc>Gcc p.P24A COADREAD 14 51444036 51444036 + Silent SNP G G A TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr14:51444036G>A c.2106C>T c.(2104-2106)ttC>ttT p.F702F COADREAD 14 51446149 51446149 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr14:51446149C>A c.2026G>T c.(2026-2028)Gag>Tag p.E676* COADREAD 14 51448530 51448530 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr14:51448530G>A c.1895C>T c.(1894-1896)tCg>tTg p.S632L COADREAD 14 51448608 51448608 + Missense_Mutation SNP T T C TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr14:51448608T>C c.1817A>G c.(1816-1818)gAt>gGt p.D606G COADREAD 14 51448629 51448629 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr14:51448629G>A c.1796C>T c.(1795-1797)gCt>gTt p.A599V COADREAD 14 51448749 51448749 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:51448749G>A c.1676C>T c.(1675-1677)aCc>aTc p.T559I COADREAD 14 51448791 51448791 + Missense_Mutation SNP G G A TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr14:51448791G>A c.1634C>T c.(1633-1635)gCg>gTg p.A545V COADREAD 14 51464729 51464729 + Intron SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr14:51464729G>A COADREAD 14 51464729 51464729 + Intron SNP G G A TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr14:51464729G>A COADREAD 14 51467494 51467494 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:51467494G>A c.1371C>T c.(1369-1371)agC>agT p.S457S COADREAD 14 51467558 51467558 + Splice_Site SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr14:51467558G>A c.1307C>T c.(1306-1308)gCt>gTt p.A436V COADREAD 14 51475905 51475905 + Nonsense_Mutation SNP C C T TCGA-D5-6932-01A-11D-1924-10 TCGA-D5-6932-10A-01D-1924-10 g.chr14:51475905C>T c.1199G>A c.(1198-1200)tGg>tAg p.W400* COADREAD 14 51560956 51560956 + Silent SNP C C T TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr14:51560956C>T c.702G>A c.(700-702)ctG>ctA p.L234L COADREAD 14 51561006 51561006 + Missense_Mutation SNP T T G TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr14:51561006T>G c.652A>C c.(652-654)Agc>Cgc p.S218R COADREAD 14 51561036 51561036 + Missense_Mutation SNP G G C TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr14:51561036G>C c.622C>G c.(622-624)Cgc>Ggc p.R208G COADREAD 14 51561112 51561112 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr14:51561112G>A c.546C>T c.(544-546)tgC>tgT p.C182C COADREAD 14 51561330 51561330 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:51561330C>T c.328G>A c.(328-330)Gcc>Acc p.A110T COADREAD 14 51561385 51561385 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:51561385C>T c.273G>A c.(271-273)ccG>ccA p.P91P COADREAD 14 51561588 51561588 + Missense_Mutation SNP G G C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr14:51561588G>C c.70C>G c.(70-72)Ccc>Gcc p.P24A ESCA 14 51448791 51448791 + Missense_Mutation SNP G G A TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr14:51448791G>A c.1634C>T c.(1633-1635)gCg>gTg p.A545V ESCA 14 51464729 51464729 + Intron SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr14:51464729G>T ESCA 14 51475876 51475876 + Missense_Mutation SNP T T G TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr14:51475876T>G c.1228A>C c.(1228-1230)Acc>Ccc p.T410P ESCA 14 51489642 51489642 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr14:51489642C>A c.952G>T c.(952-954)Gcc>Tcc p.A318S ESCA 14 51561511 51561511 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chr14:51561511G>T c.147C>A c.(145-147)agC>agA p.S49R GBMLGG 14 51446210 51446210 + Silent SNP T T C TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr14:51446210T>C c.1965A>G c.(1963-1965)agA>agG p.R655R GBMLGG 14 51448645 51448645 + Missense_Mutation SNP G G C TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 g.chr14:51448645G>C c.1780C>G c.(1780-1782)Cct>Gct p.P594A GBMLGG 14 51464729 51464729 + Intron SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:51464729G>A HNSC 14 51446241 51446241 + Missense_Mutation SNP G G T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr14:51446241G>T c.1934C>A c.(1933-1935)gCc>gAc p.A645D HNSC 14 51464789 51464789 + Silent SNP G G A TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr14:51464789G>A c.1582C>T c.(1582-1584)Ctg>Ttg p.L528L HNSC 14 51489654 51489654 + Missense_Mutation SNP C C T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr14:51489654C>T c.940G>A c.(940-942)Gcc>Acc p.A314T HNSC 14 51561183 51561183 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr14:51561183G>A c.475C>T c.(475-477)Cag>Tag p.Q159* HNSC 14 51561606 51561606 + Missense_Mutation SNP G G A TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 g.chr14:51561606G>A c.52C>T c.(52-54)Cgg>Tgg p.R18W KIPAN 14 51475908 51475908 + Missense_Mutation SNP T T C TCGA-BQ-5882-01A-11D-1589-08 TCGA-BQ-5882-11A-01D-1589-08 g.chr14:51475908T>C c.1196A>G c.(1195-1197)cAg>cGg p.Q399R KIRP 14 51475908 51475908 + Missense_Mutation SNP T T C TCGA-BQ-5882-01A-11D-1589-08 TCGA-BQ-5882-11A-01D-1589-08 g.chr14:51475908T>C c.1196A>G c.(1195-1197)cAg>cGg p.Q399R LGG 14 51446210 51446210 + Silent SNP T T C TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr14:51446210T>C c.1965A>G c.(1963-1965)agA>agG p.R655R LGG 14 51448645 51448645 + Missense_Mutation SNP G G C TCGA-HW-7491-01A-11D-2024-08 TCGA-HW-7491-10A-01D-2024-08 g.chr14:51448645G>C c.1780C>G c.(1780-1782)Cct>Gct p.P594A LGG 14 51464729 51464729 + Intron SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:51464729G>A LUAD 14 51444066 51444066 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr14:51444066C>G c.2076G>C c.(2074-2076)acG>acC p.T692T LUAD 14 51446110 51446110 + Missense_Mutation SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr14:51446110C>A c.2065G>T c.(2065-2067)Gtg>Ttg p.V689L LUAD 14 51446129 51446129 + Silent SNP C C G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr14:51446129C>G c.2046G>C c.(2044-2046)gcG>gcC p.A682A LUAD 14 51446170 51446170 + Missense_Mutation SNP G G A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr14:51446170G>A c.2005C>T c.(2005-2007)Ccc>Tcc p.P669S LUAD 14 51446192 51446192 + Frame_Shift_Del DEL A A - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr14:51446192delA c.1983delT c.(1981-1983)tttfs p.F661fs LUAD 14 51448566 51448566 + Missense_Mutation SNP A A C TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr14:51448566A>C c.1859T>G c.(1858-1860)gTg>gGg p.V620G LUAD 14 51448577 51448577 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr14:51448577C>A c.1848G>T c.(1846-1848)tgG>tgT p.W616C LUAD 14 51448586 51448587 + Frame_Shift_Ins INS - - T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr14:51448586_51448587insT c.1838_1839insA c.(1837-1839)gacfs p.D613fs LUAD 14 51448785 51448785 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr14:51448785G>A c.1640C>T c.(1639-1641)tCg>tTg p.S547L LUAD 14 51448809 51448809 + Missense_Mutation SNP G G T TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr14:51448809G>T c.1616C>A c.(1615-1617)gCt>gAt p.A539D LUAD 14 51467451 51467451 + Missense_Mutation SNP C C T TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 g.chr14:51467451C>T c.1414G>A c.(1414-1416)Gcc>Acc p.A472T LUAD 14 51467560 51467560 + Splice_Site SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr14:51467560T>C c.e6-2 LUAD 14 51475811 51475811 + Missense_Mutation SNP G G T TCGA-05-4244-01A-01D-1105-08 TCGA-05-4244-10A-01D-1105-08 g.chr14:51475811G>T c.1293C>A c.(1291-1293)ttC>ttA p.F431L LUAD 14 51475904 51475904 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr14:51475904C>A c.1200G>T c.(1198-1200)tgG>tgT p.W400C LUAD 14 51489585 51489585 + Missense_Mutation SNP G G T TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr14:51489585G>T c.1009C>A c.(1009-1011)Cgc>Agc p.R337S LUAD 14 51489588 51489588 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr14:51489588C>A c.1006G>T c.(1006-1008)Gcc>Tcc p.A336S LUAD 14 51489622 51489622 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr14:51489622G>T c.972C>A c.(970-972)atC>atA p.I324I LUAD 14 51561184 51561184 + Nonsense_Mutation SNP G G T TCGA-99-8033-01A-11D-2238-08 TCGA-99-8033-10A-01D-2238-08 g.chr14:51561184G>T c.474C>A c.(472-474)taC>taA p.Y158* LUAD 14 51561238 51561238 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chr14:51561238C>A c.420G>T c.(418-420)cgG>cgT p.R140R LUAD 14 51561239 51561239 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chr14:51561239C>T c.419G>A c.(418-420)cGg>cAg p.R140Q LUAD 14 51561379 51561379 + Silent SNP C C T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr14:51561379C>T c.279G>A c.(277-279)caG>caA p.Q93Q LUAD 14 51561429 51561429 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr14:51561429C>A c.229G>T c.(229-231)Ggc>Tgc p.G77C LUSC 14 51446134 51446134 + Missense_Mutation SNP G G T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr14:51446134G>T c.2041C>A c.(2041-2043)Cct>Act p.P681T LUSC 14 51446186 51446186 + Missense_Mutation SNP G G T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr14:51446186G>T c.1989C>A c.(1987-1989)aaC>aaA p.N663K LUSC 14 51446263 51446263 + Nonsense_Mutation SNP C C A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr14:51446263C>A c.1912G>T c.(1912-1914)Gag>Tag p.E638* LUSC 14 51467493 51467493 + Missense_Mutation SNP C C A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr14:51467493C>A c.1372G>T c.(1372-1374)Gct>Tct p.A458S PRAD 14 51446111 51446111 + Silent SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 g.chr14:51446111G>A c.2064C>T c.(2062-2064)aaC>aaT p.N688N PRAD 14 51489667 51489667 + Missense_Mutation SNP A A C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 g.chr14:51489667A>C c.927T>G c.(925-927)agT>agG p.S309R PRAD 14 51492006 51492006 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:51492006G>A c.895C>T c.(895-897)Cgc>Tgc p.R299C PRAD 14 51560842 51560842 + Silent SNP T T A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 g.chr14:51560842T>A c.816A>T c.(814-816)ctA>ctT p.L272L READ 14 51561006 51561006 + Missense_Mutation SNP T T G TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr14:51561006T>G c.652A>C c.(652-654)Agc>Cgc p.S218R SKCM 14 51446146 51446146 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:51446146C>T c.2029G>A c.(2029-2031)Ggc>Agc p.G677S SKCM 14 51446170 51446170 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:51446170G>A c.2005C>T c.(2005-2007)Ccc>Tcc p.P669S SKCM 14 51446206 51446206 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:51446206T>G c.1969A>C c.(1969-1971)Aac>Cac p.N657H SKCM 14 51446212 51446212 + Missense_Mutation SNP T T C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 g.chr14:51446212T>C c.1963A>G c.(1963-1965)Aga>Gga p.R655G SKCM 14 51446259 51446259 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr14:51446259C>T c.1916G>A c.(1915-1917)gGa>gAa p.G639E SKCM 14 51448530 51448530 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:51448530G>A c.1895C>T c.(1894-1896)tCg>tTg p.S632L SKCM 14 51448794 51448794 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr14:51448794G>A c.1631C>T c.(1630-1632)tCg>tTg p.S544L SKCM 14 51464813 51464813 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 g.chr14:51464813C>T c.1558G>A c.(1558-1560)Gga>Aga p.G520R SKCM 14 51464813 51464813 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:51464813C>T c.1558G>A c.(1558-1560)Gga>Aga p.G520R SKCM 14 51464870 51464870 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:51464870C>T c.1501G>A c.(1501-1503)Gat>Aat p.D501N SKCM 14 51464871 51464871 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:51464871C>T c.1500G>A c.(1498-1500)gtG>gtA p.V500V SKCM 14 51467457 51467457 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr14:51467457C>T c.1408G>A c.(1408-1410)Gtg>Atg p.V470M SKCM 14 51467517 51467517 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr14:51467517C>T c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K SKCM 14 51475933 51475933 + Missense_Mutation SNP T T C TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr14:51475933T>C c.1171A>G c.(1171-1173)Aga>Gga p.R391G SKCM 14 51477128 51477128 + Missense_Mutation SNP C C T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr14:51477128C>T c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K SKCM 14 51492019 51492019 + Missense_Mutation SNP A A C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr14:51492019A>C c.882T>G c.(880-882)ttT>ttG p.F294L SKCM 14 51492053 51492053 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr14:51492053C>T c.848G>A c.(847-849)gGa>gAa p.G283E SKCM 14 51560982 51560982 + Missense_Mutation SNP C C T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr14:51560982C>T c.676G>A c.(676-678)Gtc>Atc p.V226I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 14 51561155 51561155 single base substitution C T missense_variant C168Y 503G>A BLCA-CN 14 51561205 51561205 single base substitution C T synonymous_variant L151L 453G>A BLCA-CN 14 51561231 51561231 single base substitution G A missense_variant R143C 427C>T BLCA-US 14 51561002 51561002 single base substitution C T missense_variant R219Q 656G>A BLCA-US 14 51561204 51561204 single base substitution C T missense_variant E152K 454G>A BOCA-FR 14 51455135 51455135 single base substitution T G intron_variant BOCA-FR 14 51455135 51455135 single base substitution T G upstream_gene_variant BOCA-FR 14 51456178 51456178 single base substitution T C intron_variant BOCA-FR 14 51456178 51456178 single base substitution T C upstream_gene_variant BRCA-EU 14 51437931 51437931 single base substitution C T downstream_gene_variant BRCA-EU 14 51439657 51439657 single base substitution C T downstream_gene_variant BRCA-EU 14 51442633 51442633 single base substitution C G 3_prime_UTR_variant BRCA-EU 14 51442633 51442633 single base substitution C G downstream_gene_variant BRCA-EU 14 51442819 51442819 single base substitution C G 3_prime_UTR_variant BRCA-EU 14 51442819 51442819 single base substitution C G downstream_gene_variant BRCA-EU 14 51442837 51442837 single base substitution T C 3_prime_UTR_variant BRCA-EU 14 51442837 51442837 single base substitution T C downstream_gene_variant BRCA-EU 14 51442881 51442881 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 51442881 51442881 single base substitution C T downstream_gene_variant BRCA-EU 14 51443152 51443152 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 51443152 51443152 single base substitution C T downstream_gene_variant BRCA-EU 14 51443769 51443769 single base substitution C G 3_prime_UTR_variant BRCA-EU 14 51443769 51443769 single base substitution C G downstream_gene_variant BRCA-EU 14 51444068 51444068 single base substitution T A downstream_gene_variant BRCA-EU 14 51444068 51444068 single base substitution T A missense_variant T692S 2074A>T BRCA-EU 14 51444105 51444105 single base substitution C T downstream_gene_variant BRCA-EU 14 51444105 51444105 single base substitution C T intron_variant BRCA-EU 14 51444177 51444177 single base substitution C T downstream_gene_variant BRCA-EU 14 51444177 51444177 single base substitution C T intron_variant BRCA-EU 14 51445961 51445961 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 51445961 51445961 single base substitution C T downstream_gene_variant BRCA-EU 14 51445961 51445961 single base substitution C T intron_variant BRCA-EU 14 51446145 51446145 single base substitution C T downstream_gene_variant BRCA-EU 14 51446145 51446145 single base substitution C T missense_variant G677D 2030G>A BRCA-EU 14 51446145 51446145 single base substitution C T missense_variant G758D 2273G>A BRCA-EU 14 51446962 51446962 single base substitution T A downstream_gene_variant BRCA-EU 14 51446962 51446962 single base substitution T A intron_variant BRCA-EU 14 51448915 51448915 single base substitution C T downstream_gene_variant BRCA-EU 14 51448915 51448915 single base substitution C T exon_variant BRCA-EU 14 51448915 51448915 single base substitution C T intron_variant BRCA-EU 14 51451441 51451441 single base substitution A G intron_variant BRCA-EU 14 51451441 51451441 single base substitution A G upstream_gene_variant BRCA-EU 14 51453044 51453044 single base substitution C T exon_variant BRCA-EU 14 51453044 51453044 single base substitution C T intron_variant BRCA-EU 14 51453044 51453044 single base substitution C T upstream_gene_variant BRCA-EU 14 51453745 51453745 single base substitution C T intron_variant BRCA-EU 14 51453745 51453745 single base substitution C T upstream_gene_variant BRCA-EU 14 51455428 51455428 single base substitution T A intron_variant BRCA-EU 14 51455428 51455428 single base substitution T A upstream_gene_variant BRCA-EU 14 51456184 51456184 deletion of <=200bp T - intron_variant BRCA-EU 14 51456184 51456184 deletion of <=200bp T - upstream_gene_variant BRCA-EU 14 51460068 51460068 single base substitution G A downstream_gene_variant BRCA-EU 14 51460068 51460068 single base substitution G A intron_variant BRCA-EU 14 51460068 51460068 single base substitution G A upstream_gene_variant BRCA-EU 14 51460196 51460196 single base substitution C T downstream_gene_variant BRCA-EU 14 51460196 51460196 single base substitution C T intron_variant BRCA-EU 14 51461125 51461125 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 51461125 51461125 deletion of <=200bp A - intron_variant BRCA-EU 14 51461382 51461382 single base substitution T G downstream_gene_variant BRCA-EU 14 51461382 51461382 single base substitution T G intron_variant BRCA-EU 14 51461546 51461546 single base substitution G T downstream_gene_variant BRCA-EU 14 51461546 51461546 single base substitution G T intron_variant BRCA-EU 14 51461638 51461638 single base substitution G A downstream_gene_variant BRCA-EU 14 51461638 51461638 single base substitution G A intron_variant BRCA-EU 14 51462956 51462978 deletion of <=200bp GTTTCTTTGTTGGAAGAGAACTT - 3_prime_UTR_variant BRCA-EU 14 51462956 51462978 deletion of <=200bp GTTTCTTTGTTGGAAGAGAACTT - intron_variant BRCA-EU 14 51463130 51463130 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 51463130 51463130 single base substitution C T intron_variant BRCA-EU 14 51463131 51463131 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 51463131 51463131 single base substitution G A intron_variant BRCA-EU 14 51463389 51463389 single base substitution T G 3_prime_UTR_variant BRCA-EU 14 51463389 51463389 single base substitution T G intron_variant BRCA-EU 14 51465135 51465135 single base substitution G A intron_variant BRCA-EU 14 51465240 51465240 single base substitution C A intron_variant BRCA-EU 14 51465557 51465557 single base substitution C T intron_variant BRCA-EU 14 51465621 51465621 single base substitution C G intron_variant BRCA-EU 14 51466454 51466454 single base substitution C A intron_variant BRCA-EU 14 51467751 51467751 single base substitution T G intron_variant BRCA-EU 14 51468321 51468321 deletion of <=200bp C - intron_variant BRCA-EU 14 51468608 51468608 single base substitution A T intron_variant BRCA-EU 14 51469719 51469719 single base substitution A G intron_variant BRCA-EU 14 51470184 51470184 single base substitution G C intron_variant BRCA-EU 14 51470628 51470628 single base substitution G T intron_variant BRCA-EU 14 51474957 51474957 single base substitution G C intron_variant BRCA-EU 14 51477135 51477135 single base substitution C T synonymous_variant V373V 1119G>A BRCA-EU 14 51477652 51477652 single base substitution G C intron_variant BRCA-EU 14 51477661 51477661 single base substitution T C intron_variant BRCA-EU 14 51478320 51478320 single base substitution G T intron_variant BRCA-EU 14 51478479 51478479 single base substitution C G intron_variant BRCA-EU 14 51478518 51478518 single base substitution G T intron_variant BRCA-EU 14 51478524 51478524 single base substitution C G intron_variant BRCA-EU 14 51478810 51478810 single base substitution C T intron_variant BRCA-EU 14 51481253 51481253 single base substitution G A intron_variant BRCA-EU 14 51481719 51481719 single base substitution G A intron_variant BRCA-EU 14 51482039 51482039 single base substitution C A intron_variant BRCA-EU 14 51485079 51485079 single base substitution C T intron_variant BRCA-EU 14 51485191 51485191 single base substitution G T intron_variant BRCA-EU 14 51485382 51485382 single base substitution G A intron_variant BRCA-EU 14 51485605 51485605 single base substitution G A intron_variant BRCA-EU 14 51486100 51486100 single base substitution G T intron_variant BRCA-EU 14 51486497 51486497 single base substitution T A intron_variant BRCA-EU 14 51486639 51486639 single base substitution C G intron_variant BRCA-EU 14 51486990 51486990 single base substitution G A intron_variant BRCA-EU 14 51488667 51488667 single base substitution A G intron_variant BRCA-EU 14 51490355 51490355 single base substitution T G intron_variant BRCA-EU 14 51490506 51490506 single base substitution A T intron_variant BRCA-EU 14 51492166 51492166 single base substitution C A intron_variant BRCA-EU 14 51493036 51493036 single base substitution C G intron_variant BRCA-EU 14 51493354 51493354 single base substitution G T intron_variant BRCA-EU 14 51493765 51493765 single base substitution T G intron_variant BRCA-EU 14 51494016 51494016 single base substitution C G intron_variant BRCA-EU 14 51494608 51494608 single base substitution C G intron_variant BRCA-EU 14 51495782 51495782 single base substitution C G intron_variant BRCA-EU 14 51498100 51498100 single base substitution G C intron_variant BRCA-EU 14 51499372 51499375 deletion of <=200bp AACT - intron_variant BRCA-EU 14 51499741 51499741 single base substitution A G intron_variant BRCA-EU 14 51500039 51500039 single base substitution G C intron_variant BRCA-EU 14 51502486 51502486 single base substitution C G intron_variant BRCA-EU 14 51503406 51503406 deletion of <=200bp T - intron_variant BRCA-EU 14 51504429 51504429 deletion of <=200bp A - intron_variant BRCA-EU 14 51504766 51504766 single base substitution C T intron_variant BRCA-EU 14 51504932 51504932 single base substitution G C intron_variant BRCA-EU 14 51505521 51505521 single base substitution T C intron_variant BRCA-EU 14 51505679 51505679 single base substitution A G intron_variant BRCA-EU 14 51506399 51506399 single base substitution T G intron_variant BRCA-EU 14 51506750 51506750 single base substitution C T intron_variant BRCA-EU 14 51507033 51507033 single base substitution T A intron_variant BRCA-EU 14 51511068 51511068 single base substitution A C intron_variant BRCA-EU 14 51512278 51512278 single base substitution C A intron_variant BRCA-EU 14 51512809 51512809 single base substitution G C intron_variant BRCA-EU 14 51513179 51513179 single base substitution G A intron_variant BRCA-EU 14 51518546 51518546 single base substitution A T intron_variant BRCA-EU 14 51519036 51519036 single base substitution C T intron_variant BRCA-EU 14 51521132 51521132 single base substitution A G intron_variant BRCA-EU 14 51521376 51521376 single base substitution C G intron_variant BRCA-EU 14 51521448 51521448 single base substitution C T intron_variant BRCA-EU 14 51521791 51521791 single base substitution C T intron_variant BRCA-EU 14 51523179 51523179 single base substitution G T intron_variant BRCA-EU 14 51523975 51523975 single base substitution C G intron_variant BRCA-EU 14 51523988 51523988 single base substitution T G intron_variant BRCA-EU 14 51525072 51525072 single base substitution C G intron_variant BRCA-EU 14 51526129 51526129 deletion of <=200bp T - intron_variant BRCA-EU 14 51527334 51527334 single base substitution G T intron_variant BRCA-EU 14 51527419 51527419 single base substitution T G intron_variant BRCA-EU 14 51527920 51527920 single base substitution C A intron_variant BRCA-EU 14 51531414 51531414 single base substitution A G intron_variant BRCA-EU 14 51531916 51531916 single base substitution G A intron_variant BRCA-EU 14 51532330 51532330 single base substitution G C intron_variant BRCA-EU 14 51536623 51536623 single base substitution C A intron_variant BRCA-EU 14 51537726 51537726 single base substitution C T intron_variant BRCA-EU 14 51538221 51538221 single base substitution A G intron_variant BRCA-EU 14 51539813 51539813 single base substitution A C intron_variant BRCA-EU 14 51539951 51539951 single base substitution T C intron_variant BRCA-EU 14 51540034 51540034 single base substitution T A intron_variant BRCA-EU 14 51540522 51540522 single base substitution C G intron_variant BRCA-EU 14 51540683 51540683 single base substitution C A intron_variant BRCA-EU 14 51540804 51540804 single base substitution A G intron_variant BRCA-EU 14 51542029 51542029 single base substitution A G intron_variant BRCA-EU 14 51542095 51542095 single base substitution T A intron_variant BRCA-EU 14 51542582 51542582 single base substitution G A intron_variant BRCA-EU 14 51542830 51542830 single base substitution C T intron_variant BRCA-EU 14 51543197 51543197 single base substitution C G intron_variant BRCA-EU 14 51543290 51543290 single base substitution C T intron_variant BRCA-EU 14 51543776 51543776 single base substitution C T intron_variant BRCA-EU 14 51544450 51544450 single base substitution A G intron_variant BRCA-EU 14 51544602 51544602 single base substitution C T intron_variant BRCA-EU 14 51544822 51544822 single base substitution C A intron_variant BRCA-EU 14 51545501 51545501 single base substitution G A intron_variant BRCA-EU 14 51545511 51545511 single base substitution C T intron_variant BRCA-EU 14 51545926 51545926 single base substitution A G intron_variant BRCA-EU 14 51548567 51548567 single base substitution G A intron_variant BRCA-EU 14 51548682 51548682 single base substitution C A intron_variant BRCA-EU 14 51549080 51549080 single base substitution C T intron_variant BRCA-EU 14 51549493 51549493 deletion of <=200bp A - intron_variant BRCA-EU 14 51549753 51549753 single base substitution A C intron_variant BRCA-EU 14 51551612 51551612 single base substitution C G intron_variant BRCA-EU 14 51553183 51553183 single base substitution G C intron_variant BRCA-EU 14 51553466 51553466 single base substitution C A intron_variant BRCA-EU 14 51554022 51554022 single base substitution C A intron_variant BRCA-EU 14 51554518 51554518 single base substitution C G intron_variant BRCA-EU 14 51555234 51555234 single base substitution C G intron_variant BRCA-EU 14 51558181 51558181 single base substitution C T intron_variant BRCA-EU 14 51558392 51558392 deletion of <=200bp T - intron_variant BRCA-EU 14 51560264 51560264 single base substitution G A intron_variant BRCA-EU 14 51560336 51560336 single base substitution C T intron_variant BRCA-EU 14 51561212 51561212 single base substitution C T missense_variant R149H 446G>A BRCA-EU 14 51561852 51561852 single base substitution C T 5_prime_UTR_variant BRCA-EU 14 51561852 51561852 single base substitution C T upstream_gene_variant BRCA-EU 14 51562048 51562048 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 14 51562048 51562048 single base substitution G C upstream_gene_variant BRCA-EU 14 51563186 51563186 single base substitution G C upstream_gene_variant BRCA-EU 14 51565009 51565009 single base substitution C T upstream_gene_variant BRCA-EU 14 51565314 51565314 single base substitution T G upstream_gene_variant BRCA-EU 14 51565594 51565594 single base substitution A T upstream_gene_variant BRCA-EU 14 51565610 51565610 single base substitution G C upstream_gene_variant BRCA-EU 14 51565647 51565647 single base substitution A G upstream_gene_variant BRCA-EU 14 51566477 51566477 single base substitution T A upstream_gene_variant BRCA-EU 14 51567017 51567017 single base substitution C G upstream_gene_variant BRCA-EU 14 51567155 51567155 single base substitution T C upstream_gene_variant BRCA-FR 14 51444105 51444105 single base substitution C T downstream_gene_variant BRCA-FR 14 51444105 51444105 single base substitution C T intron_variant BRCA-FR 14 51453044 51453044 single base substitution C T exon_variant BRCA-FR 14 51453044 51453044 single base substitution C T intron_variant BRCA-FR 14 51453044 51453044 single base substitution C T upstream_gene_variant BRCA-FR 14 51478524 51478524 single base substitution C G intron_variant BRCA-FR 14 51481719 51481719 single base substitution G A intron_variant BRCA-FR 14 51493036 51493036 single base substitution C G intron_variant BRCA-FR 14 51493765 51493765 single base substitution T G intron_variant BRCA-FR 14 51498851 51498851 single base substitution C T intron_variant BRCA-FR 14 51502486 51502486 single base substitution C G intron_variant BRCA-FR 14 51517024 51517024 single base substitution C T intron_variant BRCA-FR 14 51517474 51517474 single base substitution C T intron_variant BRCA-FR 14 51520688 51520688 single base substitution G T intron_variant BRCA-FR 14 51543197 51543197 single base substitution C G intron_variant BRCA-FR 14 51545501 51545501 single base substitution G A intron_variant BRCA-FR 14 51553183 51553183 single base substitution G C intron_variant BRCA-FR 14 51554518 51554518 single base substitution C G intron_variant BRCA-FR 14 51559472 51559472 single base substitution T G intron_variant BRCA-FR 14 51559498 51559498 single base substitution A T intron_variant BRCA-KR 14 51491888 51491888 single base substitution C T intron_variant BRCA-KR 14 51561656 51561656 single base substitution A G start_lost M1T 2T>C BRCA-UK 14 51446022 51446022 single base substitution C G downstream_gene_variant BRCA-UK 14 51446022 51446022 single base substitution C G intron_variant BRCA-UK 14 51446022 51446022 single base substitution C G missense_variant R799T 2396G>C BRCA-UK 14 51446339 51446339 single base substitution G A downstream_gene_variant BRCA-UK 14 51446339 51446339 single base substitution G A intron_variant BRCA-UK 14 51458272 51458272 single base substitution G C downstream_gene_variant BRCA-UK 14 51458272 51458272 single base substitution G C intron_variant BRCA-UK 14 51458272 51458272 single base substitution G C upstream_gene_variant BRCA-UK 14 51461546 51461546 single base substitution G T downstream_gene_variant BRCA-UK 14 51461546 51461546 single base substitution G T intron_variant BRCA-UK 14 51482039 51482039 single base substitution C A intron_variant BRCA-UK 14 51486497 51486497 single base substitution T A intron_variant BRCA-UK 14 51512278 51512278 single base substitution C A intron_variant BRCA-UK 14 51521448 51521448 single base substitution C T intron_variant BRCA-UK 14 51545926 51545926 single base substitution A G intron_variant BRCA-US 14 51444032 51444032 single base substitution A T downstream_gene_variant BRCA-US 14 51444032 51444032 single base substitution A T missense_variant S704T 2110T>A BRCA-US 14 51446185 51446185 single base substitution C T downstream_gene_variant BRCA-US 14 51446185 51446185 single base substitution C T missense_variant D664N 1990G>A BRCA-US 14 51446185 51446185 single base substitution C T missense_variant D745N 2233G>A BRCA-US 14 51448553 51448553 single base substitution C G downstream_gene_variant BRCA-US 14 51448553 51448553 single base substitution C G exon_variant BRCA-US 14 51448553 51448553 single base substitution C G synonymous_variant R624R 1872G>C BRCA-US 14 51448553 51448553 single base substitution C G synonymous_variant R705R 2115G>C BRCA-US 14 51467550 51467550 single base substitution G A missense_variant P439S 1315C>T BRCA-US 14 51467550 51467550 single base substitution G A splice_region_variant BRCA-US 14 51560947 51560947 single base substitution G A synonymous_variant H237H 711C>T BRCA-US 14 51561358 51561358 single base substitution G A synonymous_variant R100R 300C>T BTCA-JP 14 51489582 51489582 single base substitution C T missense_variant V338I 1012G>A BTCA-JP 14 51560834 51560834 single base substitution A G splice_donor_variant CESC-US 14 51446219 51446219 single base substitution G T downstream_gene_variant CESC-US 14 51446219 51446219 single base substitution G T missense_variant D652E 1956C>A CESC-US 14 51446219 51446219 single base substitution G T missense_variant D733E 2199C>A CESC-US 14 51464737 51464737 single base substitution C T intron_variant CESC-US 14 51464737 51464737 single base substitution C T missense_variant R545Q 1634G>A CESC-US 14 51467440 51467440 single base substitution G T stop_gained Y471* 1413C>A CESC-US 14 51467440 51467440 single base substitution G T stop_gained Y475* 1425C>A CESC-US 14 51467466 51467466 single base substitution G C missense_variant L463V 1387C>G CESC-US 14 51467466 51467466 single base substitution G C missense_variant L467V 1399C>G CESC-US 14 51467500 51467500 single base substitution G A synonymous_variant N451N 1353C>T CESC-US 14 51467500 51467500 single base substitution G A synonymous_variant N455N 1365C>T CESC-US 14 51477205 51477205 single base substitution C G missense_variant R350P 1049G>C CESC-US 14 51561087 51561087 single base substitution C G missense_variant D191H 571G>C CESC-US 14 51561129 51561129 single base substitution C T missense_variant E177K 529G>A CESC-US 14 51561606 51561606 single base substitution G A missense_variant R18W 52C>T CLLE-ES 14 51439840 51439840 single base substitution G A downstream_gene_variant CLLE-ES 14 51443646 51443646 single base substitution C T 3_prime_UTR_variant CLLE-ES 14 51443646 51443646 single base substitution C T downstream_gene_variant CLLE-ES 14 51446109 51446109 single base substitution A G downstream_gene_variant CLLE-ES 14 51446109 51446109 single base substitution A G missense_variant V689A 2066T>C CLLE-ES 14 51446109 51446109 single base substitution A G missense_variant V770A 2309T>C CLLE-ES 14 51455865 51455865 single base substitution C A intron_variant CLLE-ES 14 51455865 51455865 single base substitution C A upstream_gene_variant CLLE-ES 14 51477841 51477841 single base substitution A T intron_variant CLLE-ES 14 51482217 51482217 single base substitution A T intron_variant CLLE-ES 14 51485336 51485336 single base substitution T C intron_variant CLLE-ES 14 51495879 51495879 single base substitution C A intron_variant CLLE-ES 14 51503445 51503445 single base substitution C G intron_variant CLLE-ES 14 51523067 51523067 single base substitution A G intron_variant CLLE-ES 14 51529619 51529619 single base substitution C T intron_variant CLLE-ES 14 51531699 51531699 single base substitution C T intron_variant CLLE-ES 14 51561323 51561323 single base substitution T C missense_variant H112R 335A>G CLLE-ES 14 51566533 51566533 single base substitution G C upstream_gene_variant COAD-US 14 51444036 51444036 single base substitution G A downstream_gene_variant COAD-US 14 51444036 51444036 single base substitution G A synonymous_variant F702F 2106C>T COAD-US 14 51448530 51448530 single base substitution G A downstream_gene_variant COAD-US 14 51448530 51448530 single base substitution G A exon_variant COAD-US 14 51448530 51448530 single base substitution G A missense_variant S632L 1895C>T COAD-US 14 51448530 51448530 single base substitution G A missense_variant S713L 2138C>T COAD-US 14 51448629 51448629 single base substitution G A downstream_gene_variant COAD-US 14 51448629 51448629 single base substitution G A exon_variant COAD-US 14 51448629 51448629 single base substitution G A missense_variant A599V 1796C>T COAD-US 14 51448629 51448629 single base substitution G A missense_variant A680V 2039C>T COAD-US 14 51464729 51464729 single base substitution G A intron_variant COAD-US 14 51464729 51464729 single base substitution G A missense_variant R548C 1642C>T COAD-US 14 51467448 51467448 single base substitution C T missense_variant D469N 1405G>A COAD-US 14 51467448 51467448 single base substitution C T missense_variant D473N 1417G>A COAD-US 14 51467494 51467494 single base substitution G A synonymous_variant S453S 1359C>T COAD-US 14 51467494 51467494 single base substitution G A synonymous_variant S457S 1371C>T COAD-US 14 51475905 51475905 single base substitution C T stop_gained W400* 1199G>A COAD-US 14 51560856 51560856 deletion of <=200bp C - frameshift_variant A268 COAD-US 14 51560956 51560956 single base substitution C T synonymous_variant L234L 702G>A COAD-US 14 51560992 51560992 single base substitution G A synonymous_variant S222S 666C>T COAD-US 14 51561212 51561212 single base substitution C T missense_variant R149H 446G>A COAD-US 14 51561330 51561330 single base substitution C T missense_variant A110T 328G>A COAD-US 14 51561588 51561588 single base substitution G C missense_variant P24A 70C>G COCA-CN 14 51439081 51439081 single base substitution C T downstream_gene_variant COCA-CN 14 51440685 51440685 single base substitution T G downstream_gene_variant COCA-CN 14 51440693 51440693 single base substitution G C downstream_gene_variant COCA-CN 14 51440699 51440699 single base substitution T C downstream_gene_variant COCA-CN 14 51440747 51440747 single base substitution T G downstream_gene_variant COCA-CN 14 51445969 51445969 single base substitution C G 3_prime_UTR_variant COCA-CN 14 51445969 51445969 single base substitution C G downstream_gene_variant COCA-CN 14 51445969 51445969 single base substitution C G intron_variant COCA-CN 14 51446387 51446387 single base substitution G T downstream_gene_variant COCA-CN 14 51446387 51446387 single base substitution G T intron_variant COCA-CN 14 51448413 51448413 single base substitution T C downstream_gene_variant COCA-CN 14 51448413 51448413 single base substitution T C intron_variant COCA-CN 14 51448530 51448530 single base substitution G A downstream_gene_variant COCA-CN 14 51448530 51448530 single base substitution G A exon_variant COCA-CN 14 51448530 51448530 single base substitution G A missense_variant S632L 1895C>T COCA-CN 14 51448530 51448530 single base substitution G A missense_variant S713L 2138C>T COCA-CN 14 51448756 51448756 single base substitution T C downstream_gene_variant COCA-CN 14 51448756 51448756 single base substitution T C exon_variant COCA-CN 14 51448756 51448756 single base substitution T C missense_variant T557A 1669A>G COCA-CN 14 51448756 51448756 single base substitution T C missense_variant T638A 1912A>G COCA-CN 14 51448894 51448894 single base substitution C T downstream_gene_variant COCA-CN 14 51448894 51448894 single base substitution C T exon_variant COCA-CN 14 51448894 51448894 single base substitution C T intron_variant COCA-CN 14 51452790 51452790 single base substitution G T exon_variant COCA-CN 14 51452790 51452790 single base substitution G T intron_variant COCA-CN 14 51452790 51452790 single base substitution G T missense_variant P555H 1664C>A COCA-CN 14 51452790 51452790 single base substitution G T upstream_gene_variant COCA-CN 14 51452808 51452808 single base substitution G A exon_variant COCA-CN 14 51452808 51452808 single base substitution G A intron_variant COCA-CN 14 51452808 51452808 single base substitution G A missense_variant P549L 1646C>T COCA-CN 14 51452808 51452808 single base substitution G A upstream_gene_variant COCA-CN 14 51456616 51456616 single base substitution C A intron_variant COCA-CN 14 51456616 51456616 single base substitution C A upstream_gene_variant COCA-CN 14 51467459 51467459 single base substitution G A missense_variant T465M 1394C>T COCA-CN 14 51467459 51467459 single base substitution G A missense_variant T469M 1406C>T COCA-CN 14 51479551 51479551 single base substitution G A intron_variant COCA-CN 14 51520279 51520279 single base substitution T A intron_variant COCA-CN 14 51551115 51551115 single base substitution G T intron_variant COCA-CN 14 51561399 51561399 single base substitution C T missense_variant A87T 259G>A EOPC-DE 14 51452612 51452612 single base substitution C T intron_variant EOPC-DE 14 51452612 51452612 single base substitution C T upstream_gene_variant EOPC-DE 14 51480892 51480892 single base substitution T G intron_variant EOPC-DE 14 51504125 51504125 single base substitution G A intron_variant EOPC-DE 14 51525276 51525276 single base substitution C T intron_variant EOPC-DE 14 51546981 51546981 single base substitution C A intron_variant ESAD-UK 14 51437022 51437022 single base substitution G T downstream_gene_variant ESAD-UK 14 51437180 51437180 single base substitution T G downstream_gene_variant ESAD-UK 14 51438502 51438502 single base substitution C G downstream_gene_variant ESAD-UK 14 51440212 51440212 single base substitution C A downstream_gene_variant ESAD-UK 14 51441175 51441175 single base substitution A G downstream_gene_variant ESAD-UK 14 51441823 51441823 deletion of <=200bp A - downstream_gene_variant ESAD-UK 14 51441949 51441949 single base substitution A G downstream_gene_variant ESAD-UK 14 51442823 51442823 single base substitution C G 3_prime_UTR_variant ESAD-UK 14 51442823 51442823 single base substitution C G downstream_gene_variant ESAD-UK 14 51442856 51442856 single base substitution T G 3_prime_UTR_variant ESAD-UK 14 51442856 51442856 single base substitution T G downstream_gene_variant ESAD-UK 14 51444139 51444139 single base substitution T C downstream_gene_variant ESAD-UK 14 51444139 51444139 single base substitution T C intron_variant ESAD-UK 14 51445516 51445516 single base substitution T G 3_prime_UTR_variant ESAD-UK 14 51445516 51445516 single base substitution T G downstream_gene_variant ESAD-UK 14 51445516 51445516 single base substitution T G intron_variant ESAD-UK 14 51445778 51445778 single base substitution T C 3_prime_UTR_variant ESAD-UK 14 51445778 51445778 single base substitution T C downstream_gene_variant ESAD-UK 14 51445778 51445778 single base substitution T C intron_variant ESAD-UK 14 51447451 51447451 single base substitution T A downstream_gene_variant ESAD-UK 14 51447451 51447451 single base substitution T A intron_variant ESAD-UK 14 51447542 51447542 single base substitution T C downstream_gene_variant ESAD-UK 14 51447542 51447542 single base substitution T C intron_variant ESAD-UK 14 51448544 51448544 single base substitution G T downstream_gene_variant ESAD-UK 14 51448544 51448544 single base substitution G T exon_variant ESAD-UK 14 51448544 51448544 single base substitution G T missense_variant F627L 1881C>A ESAD-UK 14 51448544 51448544 single base substitution G T missense_variant F708L 2124C>A ESAD-UK 14 51448988 51448988 single base substitution C A downstream_gene_variant ESAD-UK 14 51448988 51448988 single base substitution C A exon_variant ESAD-UK 14 51448988 51448988 single base substitution C A intron_variant ESAD-UK 14 51449421 51449421 single base substitution A C downstream_gene_variant ESAD-UK 14 51449421 51449421 single base substitution A C exon_variant ESAD-UK 14 51449421 51449421 single base substitution A C intron_variant ESAD-UK 14 51449421 51449421 single base substitution A C upstream_gene_variant ESAD-UK 14 51451766 51451766 single base substitution A G intron_variant ESAD-UK 14 51451766 51451766 single base substitution A G upstream_gene_variant ESAD-UK 14 51452219 51452219 single base substitution C A intron_variant ESAD-UK 14 51452219 51452219 single base substitution C A upstream_gene_variant ESAD-UK 14 51452872 51452872 single base substitution A C exon_variant ESAD-UK 14 51452872 51452872 single base substitution A C intron_variant ESAD-UK 14 51452872 51452872 single base substitution A C upstream_gene_variant ESAD-UK 14 51454196 51454196 single base substitution T A intron_variant ESAD-UK 14 51454196 51454196 single base substitution T A upstream_gene_variant ESAD-UK 14 51454430 51454430 single base substitution C T intron_variant ESAD-UK 14 51454430 51454430 single base substitution C T upstream_gene_variant ESAD-UK 14 51454800 51454800 single base substitution G A intron_variant ESAD-UK 14 51454800 51454800 single base substitution G A upstream_gene_variant ESAD-UK 14 51454836 51454836 single base substitution T G intron_variant ESAD-UK 14 51454836 51454836 single base substitution T G upstream_gene_variant ESAD-UK 14 51455640 51455640 single base substitution A C intron_variant ESAD-UK 14 51455640 51455640 single base substitution A C upstream_gene_variant ESAD-UK 14 51455829 51455829 single base substitution T G intron_variant ESAD-UK 14 51455829 51455829 single base substitution T G upstream_gene_variant ESAD-UK 14 51458521 51458521 single base substitution T C downstream_gene_variant ESAD-UK 14 51458521 51458521 single base substitution T C intron_variant ESAD-UK 14 51458521 51458521 single base substitution T C upstream_gene_variant ESAD-UK 14 51458615 51458615 single base substitution A T downstream_gene_variant ESAD-UK 14 51458615 51458615 single base substitution A T intron_variant ESAD-UK 14 51458615 51458615 single base substitution A T upstream_gene_variant ESAD-UK 14 51460906 51460906 single base substitution T G downstream_gene_variant ESAD-UK 14 51460906 51460906 single base substitution T G intron_variant ESAD-UK 14 51461532 51461532 single base substitution T G downstream_gene_variant ESAD-UK 14 51461532 51461532 single base substitution T G intron_variant ESAD-UK 14 51462182 51462182 single base substitution G A downstream_gene_variant ESAD-UK 14 51462182 51462182 single base substitution G A intron_variant ESAD-UK 14 51463719 51463719 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 14 51463719 51463719 deletion of <=200bp A - intron_variant ESAD-UK 14 51464492 51464492 single base substitution T G 3_prime_UTR_variant ESAD-UK 14 51464492 51464492 single base substitution T G intron_variant ESAD-UK 14 51464802 51464802 single base substitution C T synonymous_variant P519P 1557G>A ESAD-UK 14 51464802 51464802 single base substitution C T synonymous_variant P523P 1569G>A ESAD-UK 14 51464947 51464947 single base substitution C T intron_variant ESAD-UK 14 51465220 51465220 insertion of <=200bp - A intron_variant ESAD-UK 14 51465221 51465221 single base substitution A C intron_variant ESAD-UK 14 51465385 51465385 single base substitution C T intron_variant ESAD-UK 14 51465563 51465563 single base substitution C G intron_variant ESAD-UK 14 51468507 51468507 single base substitution C T intron_variant ESAD-UK 14 51468510 51468510 single base substitution G T intron_variant ESAD-UK 14 51468688 51468688 single base substitution T G intron_variant ESAD-UK 14 51468827 51468827 deletion of <=200bp G - intron_variant ESAD-UK 14 51470545 51470545 single base substitution G A intron_variant ESAD-UK 14 51471106 51471106 deletion of <=200bp T - intron_variant ESAD-UK 14 51472328 51472328 single base substitution A G intron_variant ESAD-UK 14 51472414 51472414 single base substitution T G intron_variant ESAD-UK 14 51473810 51473810 single base substitution C A intron_variant ESAD-UK 14 51474480 51474480 single base substitution T G intron_variant ESAD-UK 14 51474861 51474861 single base substitution T G intron_variant ESAD-UK 14 51474948 51474948 single base substitution C T intron_variant ESAD-UK 14 51476487 51476487 single base substitution C T intron_variant ESAD-UK 14 51477741 51477741 single base substitution C T intron_variant ESAD-UK 14 51478145 51478145 single base substitution A C intron_variant ESAD-UK 14 51478197 51478197 single base substitution T C intron_variant ESAD-UK 14 51478352 51478352 single base substitution A C intron_variant ESAD-UK 14 51479229 51479229 single base substitution A T intron_variant ESAD-UK 14 51479576 51479576 single base substitution G A intron_variant ESAD-UK 14 51479858 51479858 single base substitution A G intron_variant ESAD-UK 14 51481761 51481761 single base substitution G A intron_variant ESAD-UK 14 51483814 51483814 single base substitution T C intron_variant ESAD-UK 14 51483865 51483865 single base substitution T G intron_variant ESAD-UK 14 51484553 51484553 single base substitution C A intron_variant ESAD-UK 14 51484785 51484785 single base substitution G C intron_variant ESAD-UK 14 51485381 51485381 single base substitution C T intron_variant ESAD-UK 14 51485583 51485583 single base substitution G A intron_variant ESAD-UK 14 51486040 51486040 single base substitution G A intron_variant ESAD-UK 14 51487653 51487653 single base substitution C T intron_variant ESAD-UK 14 51487733 51487733 single base substitution T A intron_variant ESAD-UK 14 51488058 51488058 single base substitution C T intron_variant ESAD-UK 14 51488610 51488610 single base substitution A C intron_variant ESAD-UK 14 51488614 51488614 single base substitution T G intron_variant ESAD-UK 14 51488711 51488711 deletion of <=200bp T - intron_variant ESAD-UK 14 51489231 51489231 single base substitution G T intron_variant ESAD-UK 14 51489515 51489515 single base substitution T C intron_variant ESAD-UK 14 51490146 51490146 single base substitution A C intron_variant ESAD-UK 14 51490221 51490221 single base substitution C A intron_variant ESAD-UK 14 51494742 51494742 single base substitution A G intron_variant ESAD-UK 14 51495814 51495814 single base substitution A C intron_variant ESAD-UK 14 51495852 51495852 single base substitution T C intron_variant ESAD-UK 14 51495979 51495979 single base substitution T G intron_variant ESAD-UK 14 51496822 51496822 single base substitution G C intron_variant ESAD-UK 14 51497518 51497518 single base substitution T C intron_variant ESAD-UK 14 51498802 51498802 single base substitution A G intron_variant ESAD-UK 14 51499642 51499642 single base substitution A T intron_variant ESAD-UK 14 51499987 51499987 single base substitution T G intron_variant ESAD-UK 14 51501152 51501152 single base substitution A C intron_variant ESAD-UK 14 51501222 51501222 single base substitution A T intron_variant ESAD-UK 14 51501510 51501510 single base substitution C A intron_variant ESAD-UK 14 51501530 51501530 single base substitution T G intron_variant ESAD-UK 14 51501581 51501581 single base substitution T G intron_variant ESAD-UK 14 51501928 51501928 deletion of <=200bp T - intron_variant ESAD-UK 14 51503287 51503287 single base substitution T A intron_variant ESAD-UK 14 51503336 51503336 single base substitution T G intron_variant ESAD-UK 14 51503766 51503766 single base substitution T G intron_variant ESAD-UK 14 51503825 51503825 single base substitution A C intron_variant ESAD-UK 14 51504579 51504579 single base substitution G A intron_variant ESAD-UK 14 51505525 51505529 deletion of <=200bp ATCTT - intron_variant ESAD-UK 14 51505791 51505791 single base substitution A C intron_variant ESAD-UK 14 51506691 51506691 single base substitution C T intron_variant ESAD-UK 14 51507308 51507308 single base substitution A T intron_variant ESAD-UK 14 51509760 51509760 single base substitution A G intron_variant ESAD-UK 14 51511734 51511734 single base substitution G T intron_variant ESAD-UK 14 51511748 51511748 single base substitution T G intron_variant ESAD-UK 14 51512464 51512464 single base substitution G A intron_variant ESAD-UK 14 51512634 51512634 single base substitution T G intron_variant ESAD-UK 14 51512820 51512820 single base substitution G A intron_variant ESAD-UK 14 51514308 51514308 single base substitution T A intron_variant ESAD-UK 14 51514823 51514823 single base substitution T C intron_variant ESAD-UK 14 51515650 51515650 single base substitution C T intron_variant ESAD-UK 14 51516638 51516638 deletion of <=200bp A - intron_variant ESAD-UK 14 51516735 51516735 single base substitution T G intron_variant ESAD-UK 14 51516777 51516777 single base substitution G A intron_variant ESAD-UK 14 51517052 51517052 single base substitution A C intron_variant ESAD-UK 14 51518351 51518351 single base substitution T G intron_variant ESAD-UK 14 51519407 51519407 single base substitution C T intron_variant ESAD-UK 14 51521171 51521171 single base substitution T G intron_variant ESAD-UK 14 51521820 51521820 single base substitution G A intron_variant ESAD-UK 14 51521850 51521850 insertion of <=200bp - T intron_variant ESAD-UK 14 51524080 51524080 single base substitution T A intron_variant ESAD-UK 14 51524353 51524353 single base substitution A C intron_variant ESAD-UK 14 51524606 51524606 single base substitution A C intron_variant ESAD-UK 14 51525894 51525894 single base substitution C A intron_variant ESAD-UK 14 51527001 51527001 single base substitution A C intron_variant ESAD-UK 14 51527311 51527311 single base substitution A C intron_variant ESAD-UK 14 51528008 51528008 single base substitution G A intron_variant ESAD-UK 14 51528926 51528926 single base substitution A C intron_variant ESAD-UK 14 51529619 51529619 single base substitution C T intron_variant ESAD-UK 14 51530108 51530108 single base substitution C A intron_variant ESAD-UK 14 51530247 51530247 single base substitution A C intron_variant ESAD-UK 14 51530598 51530598 single base substitution T C intron_variant ESAD-UK 14 51530652 51530652 single base substitution G A intron_variant ESAD-UK 14 51531658 51531658 single base substitution T A intron_variant ESAD-UK 14 51531827 51531827 single base substitution G T intron_variant ESAD-UK 14 51532340 51532340 single base substitution G T intron_variant ESAD-UK 14 51534770 51534770 single base substitution T G intron_variant ESAD-UK 14 51535632 51535632 single base substitution G T intron_variant ESAD-UK 14 51536653 51536653 single base substitution C T intron_variant ESAD-UK 14 51537817 51537817 single base substitution G C intron_variant ESAD-UK 14 51538679 51538679 single base substitution C T intron_variant ESAD-UK 14 51538936 51538936 single base substitution T G intron_variant ESAD-UK 14 51539798 51539798 single base substitution A G intron_variant ESAD-UK 14 51540216 51540216 insertion of <=200bp - A intron_variant ESAD-UK 14 51541005 51541005 single base substitution C G intron_variant ESAD-UK 14 51541122 51541122 single base substitution A C intron_variant ESAD-UK 14 51541276 51541276 single base substitution T C intron_variant ESAD-UK 14 51542085 51542085 deletion of <=200bp A - intron_variant ESAD-UK 14 51542120 51542120 single base substitution G A intron_variant ESAD-UK 14 51542538 51542538 single base substitution T G intron_variant ESAD-UK 14 51542917 51542917 single base substitution T G intron_variant ESAD-UK 14 51543194 51543194 single base substitution G A intron_variant ESAD-UK 14 51543278 51543278 single base substitution C T intron_variant ESAD-UK 14 51546776 51546776 single base substitution A C intron_variant ESAD-UK 14 51547255 51547255 deletion of <=200bp A - intron_variant ESAD-UK 14 51548386 51548386 single base substitution T G intron_variant ESAD-UK 14 51548442 51548442 single base substitution C A intron_variant ESAD-UK 14 51549541 51549541 single base substitution T C intron_variant ESAD-UK 14 51551743 51551743 single base substitution G T intron_variant ESAD-UK 14 51554985 51554985 single base substitution C T intron_variant ESAD-UK 14 51555252 51555252 single base substitution C G intron_variant ESAD-UK 14 51555286 51555286 single base substitution T G intron_variant ESAD-UK 14 51556146 51556146 single base substitution C T intron_variant ESAD-UK 14 51556740 51556740 single base substitution A T intron_variant ESAD-UK 14 51557805 51557805 single base substitution G A intron_variant ESAD-UK 14 51558454 51558454 single base substitution G C intron_variant ESAD-UK 14 51558706 51558706 deletion of <=200bp A - intron_variant ESAD-UK 14 51559092 51559092 single base substitution T C intron_variant ESAD-UK 14 51559116 51559116 single base substitution G T intron_variant ESAD-UK 14 51560209 51560209 single base substitution C A intron_variant ESAD-UK 14 51560263 51560263 single base substitution C T intron_variant ESAD-UK 14 51560280 51560280 single base substitution G A intron_variant ESAD-UK 14 51560391 51560391 single base substitution C G intron_variant ESAD-UK 14 51561925 51561925 single base substitution G A 5_prime_UTR_variant ESAD-UK 14 51561925 51561925 single base substitution G A upstream_gene_variant ESAD-UK 14 51562125 51562125 single base substitution T G 5_prime_UTR_variant ESAD-UK 14 51562125 51562125 single base substitution T G upstream_gene_variant ESAD-UK 14 51562390 51562390 single base substitution G A 5_prime_UTR_variant ESAD-UK 14 51562390 51562390 single base substitution G A upstream_gene_variant ESAD-UK 14 51562395 51562395 single base substitution C T 5_prime_UTR_variant ESAD-UK 14 51562395 51562395 single base substitution C T upstream_gene_variant ESAD-UK 14 51565652 51565652 single base substitution T G upstream_gene_variant ESAD-UK 14 51565855 51565855 single base substitution A C upstream_gene_variant ESAD-UK 14 51566447 51566447 single base substitution C T upstream_gene_variant ESAD-UK 14 51566475 51566475 single base substitution A C upstream_gene_variant ESAD-UK 14 51566876 51566876 single base substitution T G upstream_gene_variant ESCA-CN 14 51446214 51446214 single base substitution T C downstream_gene_variant ESCA-CN 14 51446214 51446214 single base substitution T C missense_variant N654S 1961A>G ESCA-CN 14 51446214 51446214 single base substitution T C missense_variant N735S 2204A>G ESCA-CN 14 51477173 51477173 single base substitution G A missense_variant R361C 1081C>T KIRP-US 14 51475908 51475908 single base substitution T C missense_variant Q399R 1196A>G LAML-KR 14 51529751 51529751 single base substitution T A intron_variant LGG-US 14 51446210 51446210 single base substitution T C downstream_gene_variant LGG-US 14 51446210 51446210 single base substitution T C synonymous_variant R655R 1965A>G LGG-US 14 51446210 51446210 single base substitution T C synonymous_variant R736R 2208A>G LGG-US 14 51448645 51448645 single base substitution G C downstream_gene_variant LGG-US 14 51448645 51448645 single base substitution G C exon_variant LGG-US 14 51448645 51448645 single base substitution G C missense_variant P594A 1780C>G LGG-US 14 51448645 51448645 single base substitution G C missense_variant P675A 2023C>G LICA-FR 14 51441717 51441717 deletion of <=200bp A - downstream_gene_variant LICA-FR 14 51446115 51446115 single base substitution C T downstream_gene_variant LICA-FR 14 51446115 51446115 single base substitution C T missense_variant R687K 2060G>A LICA-FR 14 51446115 51446115 single base substitution C T missense_variant R768K 2303G>A LICA-FR 14 51446657 51446657 single base substitution T C downstream_gene_variant LICA-FR 14 51446657 51446657 single base substitution T C intron_variant LICA-FR 14 51449390 51449390 single base substitution G A downstream_gene_variant LICA-FR 14 51449390 51449390 single base substitution G A intron_variant LICA-FR 14 51449390 51449390 single base substitution G A upstream_gene_variant LICA-FR 14 51466105 51466105 single base substitution C A intron_variant LICA-FR 14 51483008 51483008 single base substitution G C intron_variant LICA-FR 14 51492039 51492039 single base substitution C T missense_variant A288T 862G>A LICA-FR 14 51521819 51521819 single base substitution C T intron_variant LICA-FR 14 51527191 51527191 insertion of <=200bp - T intron_variant LICA-FR 14 51536220 51536220 single base substitution G A intron_variant LICA-FR 14 51538106 51538107 deletion of <=200bp AA - intron_variant LICA-FR 14 51543527 51543527 single base substitution C T intron_variant LICA-FR 14 51558193 51558193 single base substitution A G intron_variant LICA-FR 14 51561058 51561058 single base substitution G A synonymous_variant P200P 600C>T LINC-JP 14 51437505 51437505 single base substitution T C downstream_gene_variant LINC-JP 14 51444042 51444042 single base substitution G A downstream_gene_variant LINC-JP 14 51444042 51444042 single base substitution G A synonymous_variant P700P 2100C>T LINC-JP 14 51445962 51445962 single base substitution C T 3_prime_UTR_variant LINC-JP 14 51445962 51445962 single base substitution C T downstream_gene_variant LINC-JP 14 51445962 51445962 single base substitution C T intron_variant LINC-JP 14 51446200 51446200 single base substitution T C downstream_gene_variant LINC-JP 14 51446200 51446200 single base substitution T C missense_variant T659A 1975A>G LINC-JP 14 51446200 51446200 single base substitution T C missense_variant T740A 2218A>G LINC-JP 14 51449846 51449846 single base substitution A G intron_variant LINC-JP 14 51449846 51449846 single base substitution A G upstream_gene_variant LINC-JP 14 51459303 51459303 single base substitution G A downstream_gene_variant LINC-JP 14 51459303 51459303 single base substitution G A intron_variant LINC-JP 14 51459303 51459303 single base substitution G A upstream_gene_variant LINC-JP 14 51463719 51463719 insertion of <=200bp - A 3_prime_UTR_variant LINC-JP 14 51463719 51463719 insertion of <=200bp - A intron_variant LINC-JP 14 51476015 51476015 single base substitution C G intron_variant LINC-JP 14 51479987 51479987 single base substitution A C intron_variant LINC-JP 14 51485090 51485090 single base substitution T C intron_variant LINC-JP 14 51491439 51491439 single base substitution G T intron_variant LINC-JP 14 51492164 51492164 single base substitution A G intron_variant LINC-JP 14 51493946 51493946 single base substitution C G intron_variant LINC-JP 14 51517059 51517059 single base substitution C T intron_variant LINC-JP 14 51546255 51546255 single base substitution G T intron_variant LINC-JP 14 51561034 51561034 single base substitution G T synonymous_variant R208R 624C>A LINC-JP 14 51563590 51563590 single base substitution T C upstream_gene_variant LIRI-JP 14 51439657 51439657 single base substitution C T downstream_gene_variant LIRI-JP 14 51443882 51443882 single base substitution C A 3_prime_UTR_variant LIRI-JP 14 51443882 51443882 single base substitution C A downstream_gene_variant LIRI-JP 14 51445290 51445290 single base substitution A G downstream_gene_variant LIRI-JP 14 51445290 51445290 single base substitution A G intron_variant LIRI-JP 14 51445753 51445753 single base substitution G A 3_prime_UTR_variant LIRI-JP 14 51445753 51445753 single base substitution G A downstream_gene_variant LIRI-JP 14 51445753 51445753 single base substitution G A intron_variant LIRI-JP 14 51446110 51446110 single base substitution C A downstream_gene_variant LIRI-JP 14 51446110 51446110 single base substitution C A missense_variant V689L 2065G>T LIRI-JP 14 51446110 51446110 single base substitution C A missense_variant V770L 2308G>T LIRI-JP 14 51446303 51446303 single base substitution T C downstream_gene_variant LIRI-JP 14 51446303 51446303 single base substitution T C intron_variant LIRI-JP 14 51447284 51447284 single base substitution G A downstream_gene_variant LIRI-JP 14 51447284 51447284 single base substitution G A intron_variant LIRI-JP 14 51451080 51451080 single base substitution A T intron_variant LIRI-JP 14 51451080 51451080 single base substitution A T upstream_gene_variant LIRI-JP 14 51452150 51452150 single base substitution C A intron_variant LIRI-JP 14 51452150 51452150 single base substitution C A upstream_gene_variant LIRI-JP 14 51454304 51454304 single base substitution C T intron_variant LIRI-JP 14 51454304 51454304 single base substitution C T upstream_gene_variant LIRI-JP 14 51455607 51455607 single base substitution C A intron_variant LIRI-JP 14 51455607 51455607 single base substitution C A upstream_gene_variant LIRI-JP 14 51458796 51458796 single base substitution G A downstream_gene_variant LIRI-JP 14 51458796 51458796 single base substitution G A intron_variant LIRI-JP 14 51458796 51458796 single base substitution G A upstream_gene_variant LIRI-JP 14 51459591 51459591 single base substitution G C downstream_gene_variant LIRI-JP 14 51459591 51459591 single base substitution G C intron_variant LIRI-JP 14 51459591 51459591 single base substitution G C upstream_gene_variant LIRI-JP 14 51459662 51459662 single base substitution C A downstream_gene_variant LIRI-JP 14 51459662 51459662 single base substitution C A intron_variant LIRI-JP 14 51459662 51459662 single base substitution C A upstream_gene_variant LIRI-JP 14 51459971 51459971 single base substitution T C downstream_gene_variant LIRI-JP 14 51459971 51459971 single base substitution T C intron_variant LIRI-JP 14 51459971 51459971 single base substitution T C upstream_gene_variant LIRI-JP 14 51460558 51460558 single base substitution C T downstream_gene_variant LIRI-JP 14 51460558 51460558 single base substitution C T intron_variant LIRI-JP 14 51464066 51464066 single base substitution C A 3_prime_UTR_variant LIRI-JP 14 51464066 51464066 single base substitution C A intron_variant LIRI-JP 14 51465514 51465514 single base substitution A T intron_variant LIRI-JP 14 51465894 51465894 single base substitution C T intron_variant LIRI-JP 14 51467508 51467508 single base substitution T A missense_variant T449S 1345A>T LIRI-JP 14 51467508 51467508 single base substitution T A missense_variant T453S 1357A>T LIRI-JP 14 51467905 51467905 single base substitution A C intron_variant LIRI-JP 14 51468930 51468930 single base substitution C T intron_variant LIRI-JP 14 51469670 51469670 single base substitution G T intron_variant LIRI-JP 14 51470480 51470480 single base substitution A T intron_variant LIRI-JP 14 51470654 51470654 single base substitution G A intron_variant LIRI-JP 14 51476144 51476144 single base substitution A G intron_variant LIRI-JP 14 51476620 51476620 single base substitution A G intron_variant LIRI-JP 14 51479398 51479398 single base substitution G T intron_variant LIRI-JP 14 51479695 51479695 single base substitution A G intron_variant LIRI-JP 14 51479714 51479714 single base substitution C A intron_variant LIRI-JP 14 51480599 51480599 single base substitution C T intron_variant LIRI-JP 14 51481073 51481073 single base substitution T C intron_variant LIRI-JP 14 51482475 51482475 single base substitution T C intron_variant LIRI-JP 14 51483828 51483828 single base substitution A G intron_variant LIRI-JP 14 51483908 51483908 single base substitution T C intron_variant LIRI-JP 14 51485541 51485541 single base substitution A G intron_variant LIRI-JP 14 51486445 51486445 single base substitution T C intron_variant LIRI-JP 14 51488779 51488779 single base substitution T C intron_variant LIRI-JP 14 51488785 51488785 single base substitution A T intron_variant LIRI-JP 14 51490153 51490153 single base substitution A G intron_variant LIRI-JP 14 51490477 51490477 deletion of <=200bp G - intron_variant LIRI-JP 14 51490508 51490508 single base substitution A G intron_variant LIRI-JP 14 51491776 51491776 single base substitution T C intron_variant LIRI-JP 14 51491926 51491926 single base substitution G A intron_variant LIRI-JP 14 51494034 51494034 single base substitution G T intron_variant LIRI-JP 14 51496063 51496063 single base substitution G A intron_variant LIRI-JP 14 51497548 51497548 single base substitution C A intron_variant LIRI-JP 14 51498710 51498710 single base substitution C G intron_variant LIRI-JP 14 51500028 51500028 single base substitution C T intron_variant LIRI-JP 14 51501432 51501432 single base substitution A G intron_variant LIRI-JP 14 51507835 51507835 single base substitution T C intron_variant LIRI-JP 14 51509809 51509809 single base substitution T A intron_variant LIRI-JP 14 51510218 51510218 single base substitution T C intron_variant LIRI-JP 14 51510525 51510525 single base substitution C A intron_variant LIRI-JP 14 51512234 51512234 single base substitution C A intron_variant LIRI-JP 14 51512387 51512387 single base substitution A G intron_variant LIRI-JP 14 51513143 51513143 single base substitution A G intron_variant LIRI-JP 14 51514633 51514633 single base substitution G A intron_variant LIRI-JP 14 51514954 51514954 single base substitution T C intron_variant LIRI-JP 14 51515570 51515570 single base substitution T C intron_variant LIRI-JP 14 51518215 51518215 single base substitution G T intron_variant LIRI-JP 14 51518428 51518428 single base substitution T C intron_variant LIRI-JP 14 51520044 51520044 single base substitution C T intron_variant LIRI-JP 14 51521334 51521334 single base substitution T C intron_variant LIRI-JP 14 51521713 51521713 single base substitution A G intron_variant LIRI-JP 14 51521870 51521870 single base substitution A G intron_variant LIRI-JP 14 51522070 51522070 single base substitution T C intron_variant LIRI-JP 14 51522697 51522697 single base substitution C A intron_variant LIRI-JP 14 51523595 51523595 single base substitution T C intron_variant LIRI-JP 14 51524459 51524459 single base substitution T A intron_variant LIRI-JP 14 51524460 51524460 single base substitution C A intron_variant LIRI-JP 14 51524471 51524471 single base substitution A T intron_variant LIRI-JP 14 51524845 51524845 single base substitution A G intron_variant LIRI-JP 14 51525475 51525475 single base substitution A G intron_variant LIRI-JP 14 51526277 51526277 single base substitution G A intron_variant LIRI-JP 14 51527568 51527568 single base substitution C A intron_variant LIRI-JP 14 51528123 51528123 single base substitution T A intron_variant LIRI-JP 14 51528822 51528822 single base substitution T C intron_variant LIRI-JP 14 51530362 51530362 single base substitution T G intron_variant LIRI-JP 14 51530389 51530389 single base substitution T C intron_variant LIRI-JP 14 51531414 51531414 single base substitution A G intron_variant LIRI-JP 14 51532078 51532078 single base substitution C T intron_variant LIRI-JP 14 51534348 51534348 single base substitution T C intron_variant LIRI-JP 14 51536046 51536046 single base substitution C A intron_variant LIRI-JP 14 51536795 51536795 single base substitution T G intron_variant LIRI-JP 14 51538490 51538490 single base substitution C T intron_variant LIRI-JP 14 51541058 51541058 single base substitution C G intron_variant LIRI-JP 14 51545085 51545085 single base substitution T C intron_variant LIRI-JP 14 51545108 51545108 single base substitution A T intron_variant LIRI-JP 14 51545299 51545299 single base substitution A G intron_variant LIRI-JP 14 51545370 51545370 single base substitution C T intron_variant LIRI-JP 14 51545833 51545833 single base substitution T C intron_variant LIRI-JP 14 51549742 51549742 single base substitution T A intron_variant LIRI-JP 14 51550731 51550731 single base substitution G A intron_variant LIRI-JP 14 51552849 51552849 single base substitution C T intron_variant LIRI-JP 14 51553483 51553483 single base substitution A T intron_variant LIRI-JP 14 51553796 51553796 single base substitution T C intron_variant LIRI-JP 14 51558951 51558951 single base substitution C T intron_variant LIRI-JP 14 51559955 51559955 single base substitution A C intron_variant LIRI-JP 14 51561438 51561438 single base substitution C T missense_variant A74T 220G>A LIRI-JP 14 51562362 51562362 single base substitution T C 5_prime_UTR_variant LIRI-JP 14 51562362 51562362 single base substitution T C upstream_gene_variant LIRI-JP 14 51562879 51562879 single base substitution G A upstream_gene_variant LIRI-JP 14 51563591 51563591 single base substitution T C upstream_gene_variant LIRI-JP 14 51565530 51565530 single base substitution T C upstream_gene_variant LIRI-JP 14 51565672 51565672 single base substitution C T upstream_gene_variant LIRI-JP 14 51565983 51565983 single base substitution C T upstream_gene_variant LIRI-JP 14 51566373 51566373 single base substitution C T upstream_gene_variant LIRI-JP 14 51566486 51566486 single base substitution C T upstream_gene_variant LIRI-JP 14 51567281 51567281 single base substitution A T upstream_gene_variant LUSC-KR 14 51438796 51438796 single base substitution G T downstream_gene_variant LUSC-KR 14 51439589 51439589 single base substitution C A downstream_gene_variant LUSC-KR 14 51440786 51440786 single base substitution G A downstream_gene_variant LUSC-KR 14 51445343 51445343 single base substitution G T downstream_gene_variant LUSC-KR 14 51445343 51445343 single base substitution G T intron_variant LUSC-KR 14 51445445 51445445 single base substitution T C downstream_gene_variant LUSC-KR 14 51445445 51445445 single base substitution T C intron_variant LUSC-KR 14 51446465 51446465 single base substitution G T downstream_gene_variant LUSC-KR 14 51446465 51446465 single base substitution G T intron_variant LUSC-KR 14 51450797 51450797 single base substitution C A intron_variant LUSC-KR 14 51450797 51450797 single base substitution C A upstream_gene_variant LUSC-KR 14 51451067 51451067 single base substitution C T intron_variant LUSC-KR 14 51451067 51451067 single base substitution C T upstream_gene_variant LUSC-KR 14 51452528 51452528 single base substitution A G intron_variant LUSC-KR 14 51452528 51452528 single base substitution A G upstream_gene_variant LUSC-KR 14 51452988 51452988 single base substitution C A exon_variant LUSC-KR 14 51452988 51452988 single base substitution C A intron_variant LUSC-KR 14 51452988 51452988 single base substitution C A upstream_gene_variant LUSC-KR 14 51457096 51457096 single base substitution T A intron_variant LUSC-KR 14 51457096 51457096 single base substitution T A upstream_gene_variant LUSC-KR 14 51457230 51457230 single base substitution C A intron_variant LUSC-KR 14 51457230 51457230 single base substitution C A upstream_gene_variant LUSC-KR 14 51459075 51459075 single base substitution C G downstream_gene_variant LUSC-KR 14 51459075 51459075 single base substitution C G intron_variant LUSC-KR 14 51459075 51459075 single base substitution C G upstream_gene_variant LUSC-KR 14 51460908 51460908 single base substitution G C downstream_gene_variant LUSC-KR 14 51460908 51460908 single base substitution G C intron_variant LUSC-KR 14 51462799 51462799 single base substitution G T 3_prime_UTR_variant LUSC-KR 14 51462799 51462799 single base substitution G T intron_variant LUSC-KR 14 51466030 51466030 single base substitution G A intron_variant LUSC-KR 14 51469402 51469402 single base substitution A G intron_variant LUSC-KR 14 51471107 51471107 single base substitution T C intron_variant LUSC-KR 14 51474027 51474027 single base substitution C G intron_variant LUSC-KR 14 51477317 51477317 single base substitution C T intron_variant LUSC-KR 14 51481047 51481047 single base substitution C G intron_variant LUSC-KR 14 51484672 51484672 single base substitution G A intron_variant LUSC-KR 14 51484673 51484673 single base substitution C G intron_variant LUSC-KR 14 51485236 51485236 single base substitution G A intron_variant LUSC-KR 14 51494046 51494046 single base substitution G C intron_variant LUSC-KR 14 51497614 51497614 single base substitution C G intron_variant LUSC-KR 14 51499116 51499116 single base substitution T A intron_variant LUSC-KR 14 51499394 51499394 single base substitution G T intron_variant LUSC-KR 14 51500789 51500789 single base substitution T C intron_variant LUSC-KR 14 51500860 51500860 single base substitution G C intron_variant LUSC-KR 14 51502898 51502898 single base substitution C G intron_variant LUSC-KR 14 51504952 51504952 single base substitution C A intron_variant LUSC-KR 14 51509444 51509444 single base substitution G C intron_variant LUSC-KR 14 51516193 51516193 single base substitution C T intron_variant LUSC-KR 14 51517442 51517442 single base substitution C T intron_variant LUSC-KR 14 51521494 51521494 single base substitution T A intron_variant LUSC-KR 14 51524981 51524981 single base substitution C G intron_variant LUSC-KR 14 51530283 51530283 single base substitution C A intron_variant LUSC-KR 14 51530476 51530476 single base substitution G T intron_variant LUSC-KR 14 51533702 51533702 single base substitution A T intron_variant LUSC-KR 14 51536905 51536905 single base substitution C A intron_variant LUSC-KR 14 51544741 51544741 single base substitution G T intron_variant LUSC-KR 14 51547741 51547741 single base substitution C A intron_variant LUSC-KR 14 51551853 51551853 single base substitution C T intron_variant LUSC-KR 14 51552370 51552370 single base substitution T C intron_variant LUSC-KR 14 51553805 51553805 single base substitution C A intron_variant LUSC-KR 14 51554353 51554353 single base substitution T C intron_variant LUSC-KR 14 51559282 51559282 single base substitution G A intron_variant LUSC-KR 14 51561751 51561751 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 14 51561927 51561927 single base substitution G A 5_prime_UTR_variant LUSC-KR 14 51561927 51561927 single base substitution G A upstream_gene_variant LUSC-US 14 51446134 51446134 single base substitution G T downstream_gene_variant LUSC-US 14 51446134 51446134 single base substitution G T missense_variant P681T 2041C>A LUSC-US 14 51446134 51446134 single base substitution G T missense_variant P762T 2284C>A LUSC-US 14 51446186 51446186 single base substitution G T downstream_gene_variant LUSC-US 14 51446186 51446186 single base substitution G T missense_variant N663K 1989C>A LUSC-US 14 51446186 51446186 single base substitution G T missense_variant N744K 2232C>A LUSC-US 14 51446263 51446263 single base substitution C A downstream_gene_variant LUSC-US 14 51446263 51446263 single base substitution C A exon_variant LUSC-US 14 51446263 51446263 single base substitution C A stop_gained E638* 1912G>T LUSC-US 14 51446263 51446263 single base substitution C A stop_gained E719* 2155G>T LUSC-US 14 51467493 51467493 single base substitution C A missense_variant A454S 1360G>T LUSC-US 14 51467493 51467493 single base substitution C A missense_variant A458S 1372G>T MALY-DE 14 51438108 51438108 single base substitution G A downstream_gene_variant MALY-DE 14 51438584 51438584 single base substitution G T downstream_gene_variant MALY-DE 14 51439452 51439452 single base substitution A G downstream_gene_variant MALY-DE 14 51443267 51443267 single base substitution T C 3_prime_UTR_variant MALY-DE 14 51443267 51443267 single base substitution T C downstream_gene_variant MALY-DE 14 51443992 51443992 single base substitution G A 3_prime_UTR_variant MALY-DE 14 51443992 51443992 single base substitution G A downstream_gene_variant MALY-DE 14 51445425 51445425 single base substitution T C downstream_gene_variant MALY-DE 14 51445425 51445425 single base substitution T C intron_variant MALY-DE 14 51451009 51451009 single base substitution C A intron_variant MALY-DE 14 51451009 51451009 single base substitution C A upstream_gene_variant MALY-DE 14 51451781 51451781 single base substitution T G intron_variant MALY-DE 14 51451781 51451781 single base substitution T G upstream_gene_variant MALY-DE 14 51455590 51455590 single base substitution G T intron_variant MALY-DE 14 51455590 51455590 single base substitution G T upstream_gene_variant MALY-DE 14 51468395 51468395 single base substitution C T intron_variant MALY-DE 14 51473468 51473468 single base substitution T G intron_variant MALY-DE 14 51474985 51474985 single base substitution A G intron_variant MALY-DE 14 51483870 51483870 single base substitution G A intron_variant MALY-DE 14 51488680 51488680 single base substitution T C intron_variant MALY-DE 14 51494677 51494677 single base substitution G C intron_variant MALY-DE 14 51499223 51499223 insertion of <=200bp - C intron_variant MALY-DE 14 51514445 51514445 single base substitution G T intron_variant MALY-DE 14 51516543 51516543 insertion of <=200bp - A intron_variant MALY-DE 14 51524279 51524279 single base substitution A G intron_variant MALY-DE 14 51537706 51537706 single base substitution A G intron_variant MALY-DE 14 51538788 51538788 single base substitution G A intron_variant MALY-DE 14 51541633 51541633 single base substitution C T intron_variant MELA-AU 14 51437199 51437199 single base substitution G A downstream_gene_variant MELA-AU 14 51437316 51437316 single base substitution C T downstream_gene_variant MELA-AU 14 51437343 51437343 single base substitution C T downstream_gene_variant MELA-AU 14 51437385 51437385 single base substitution A G downstream_gene_variant MELA-AU 14 51437760 51437760 single base substitution G A downstream_gene_variant MELA-AU 14 51437981 51437981 single base substitution C T downstream_gene_variant MELA-AU 14 51438063 51438063 single base substitution G A downstream_gene_variant MELA-AU 14 51438154 51438154 single base substitution G A downstream_gene_variant MELA-AU 14 51438242 51438242 single base substitution G T downstream_gene_variant MELA-AU 14 51438559 51438559 single base substitution C T downstream_gene_variant MELA-AU 14 51438803 51438803 single base substitution C T downstream_gene_variant MELA-AU 14 51438863 51438863 single base substitution G A downstream_gene_variant MELA-AU 14 51438934 51438934 single base substitution G A downstream_gene_variant MELA-AU 14 51439081 51439081 single base substitution C T downstream_gene_variant MELA-AU 14 51439423 51439423 single base substitution G A downstream_gene_variant MELA-AU 14 51439659 51439659 single base substitution G A downstream_gene_variant MELA-AU 14 51439838 51439838 single base substitution C T downstream_gene_variant MELA-AU 14 51440145 51440145 single base substitution G A downstream_gene_variant MELA-AU 14 51440177 51440177 single base substitution G A downstream_gene_variant MELA-AU 14 51440842 51440842 single base substitution C T downstream_gene_variant MELA-AU 14 51441237 51441237 single base substitution T A downstream_gene_variant MELA-AU 14 51441257 51441257 single base substitution C T downstream_gene_variant MELA-AU 14 51441469 51441469 single base substitution C T downstream_gene_variant MELA-AU 14 51441746 51441746 single base substitution C T downstream_gene_variant MELA-AU 14 51441747 51441747 single base substitution C T downstream_gene_variant MELA-AU 14 51441952 51441952 single base substitution G A downstream_gene_variant MELA-AU 14 51442419 51442419 single base substitution C T 3_prime_UTR_variant MELA-AU 14 51442419 51442419 single base substitution C T downstream_gene_variant MELA-AU 14 51442708 51442708 single base substitution C T 3_prime_UTR_variant MELA-AU 14 51442708 51442708 single base substitution C T downstream_gene_variant MELA-AU 14 51443015 51443015 single base substitution G A 3_prime_UTR_variant MELA-AU 14 51443015 51443015 single base substitution G A downstream_gene_variant MELA-AU 14 51443468 51443468 single base substitution C T 3_prime_UTR_variant MELA-AU 14 51443468 51443468 single base substitution C T downstream_gene_variant MELA-AU 14 51443738 51443738 single base substitution G A 3_prime_UTR_variant MELA-AU 14 51443738 51443738 single base substitution G A downstream_gene_variant MELA-AU 14 51443803 51443803 single base substitution G A 3_prime_UTR_variant MELA-AU 14 51443803 51443803 single base substitution G A downstream_gene_variant MELA-AU 14 51443843 51443843 single base substitution G A 3_prime_UTR_variant MELA-AU 14 51443843 51443843 single base substitution G A downstream_gene_variant MELA-AU 14 51444210 51444210 single base substitution G A downstream_gene_variant MELA-AU 14 51444210 51444210 single base substitution G A intron_variant MELA-AU 14 51444339 51444339 single base substitution C T downstream_gene_variant MELA-AU 14 51444339 51444339 single base substitution C T intron_variant MELA-AU 14 51444358 51444359 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 51444358 51444359 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 51444704 51444704 single base substitution G A downstream_gene_variant MELA-AU 14 51444704 51444704 single base substitution G A intron_variant MELA-AU 14 51444853 51444853 single base substitution C T downstream_gene_variant MELA-AU 14 51444853 51444853 single base substitution C T intron_variant MELA-AU 14 51445055 51445055 single base substitution C T downstream_gene_variant MELA-AU 14 51445055 51445055 single base substitution C T intron_variant MELA-AU 14 51445484 51445484 single base substitution G T downstream_gene_variant MELA-AU 14 51445484 51445484 single base substitution G T intron_variant MELA-AU 14 51445559 51445559 single base substitution G C 3_prime_UTR_variant MELA-AU 14 51445559 51445559 single base substitution G C downstream_gene_variant MELA-AU 14 51445559 51445559 single base substitution G C intron_variant MELA-AU 14 51445629 51445629 single base substitution G A 3_prime_UTR_variant MELA-AU 14 51445629 51445629 single base substitution G A downstream_gene_variant MELA-AU 14 51445629 51445629 single base substitution G A intron_variant MELA-AU 14 51445705 51445705 single base substitution G A 3_prime_UTR_variant MELA-AU 14 51445705 51445705 single base substitution G A downstream_gene_variant MELA-AU 14 51445705 51445705 single base substitution G A intron_variant MELA-AU 14 51446016 51446016 single base substitution C T downstream_gene_variant MELA-AU 14 51446016 51446016 single base substitution C T intron_variant MELA-AU 14 51446016 51446016 single base substitution C T missense_variant G801E 2402G>A MELA-AU 14 51446052 51446052 single base substitution C T downstream_gene_variant MELA-AU 14 51446052 51446052 single base substitution C T intron_variant MELA-AU 14 51446052 51446052 single base substitution C T missense_variant R789K 2366G>A MELA-AU 14 51446060 51446060 single base substitution C G downstream_gene_variant MELA-AU 14 51446060 51446060 single base substitution C G intron_variant MELA-AU 14 51446060 51446060 single base substitution C G synonymous_variant P786P 2358G>C MELA-AU 14 51446274 51446274 single base substitution G A downstream_gene_variant MELA-AU 14 51446274 51446274 single base substitution G A intron_variant MELA-AU 14 51446274 51446274 single base substitution G A splice_region_variant MELA-AU 14 51446722 51446722 single base substitution C T downstream_gene_variant MELA-AU 14 51446722 51446722 single base substitution C T intron_variant MELA-AU 14 51446851 51446851 single base substitution G T downstream_gene_variant MELA-AU 14 51446851 51446851 single base substitution G T intron_variant MELA-AU 14 51447924 51447924 single base substitution C T downstream_gene_variant MELA-AU 14 51447924 51447924 single base substitution C T intron_variant MELA-AU 14 51448026 51448026 single base substitution G A downstream_gene_variant MELA-AU 14 51448026 51448026 single base substitution G A intron_variant MELA-AU 14 51448173 51448173 single base substitution G A downstream_gene_variant MELA-AU 14 51448173 51448173 single base substitution G A intron_variant MELA-AU 14 51448473 51448473 single base substitution C T downstream_gene_variant MELA-AU 14 51448473 51448473 single base substitution C T intron_variant MELA-AU 14 51449009 51449010 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 51449009 51449010 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 14 51449009 51449010 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 51449364 51449364 single base substitution C T downstream_gene_variant MELA-AU 14 51449364 51449364 single base substitution C T intron_variant MELA-AU 14 51449364 51449364 single base substitution C T upstream_gene_variant MELA-AU 14 51449456 51449456 single base substitution G A downstream_gene_variant MELA-AU 14 51449456 51449456 single base substitution G A exon_variant MELA-AU 14 51449456 51449456 single base substitution G A intron_variant MELA-AU 14 51449456 51449456 single base substitution G A upstream_gene_variant MELA-AU 14 51449785 51449785 single base substitution G A intron_variant MELA-AU 14 51449785 51449785 single base substitution G A upstream_gene_variant MELA-AU 14 51450043 51450043 single base substitution G A intron_variant MELA-AU 14 51450043 51450043 single base substitution G A upstream_gene_variant MELA-AU 14 51450253 51450253 single base substitution G A intron_variant MELA-AU 14 51450253 51450253 single base substitution G A upstream_gene_variant MELA-AU 14 51450323 51450323 single base substitution G A intron_variant MELA-AU 14 51450323 51450323 single base substitution G A upstream_gene_variant MELA-AU 14 51450341 51450342 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51450341 51450342 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 51450483 51450483 single base substitution G A intron_variant MELA-AU 14 51450483 51450483 single base substitution G A upstream_gene_variant MELA-AU 14 51450502 51450502 single base substitution A T intron_variant MELA-AU 14 51450502 51450502 single base substitution A T upstream_gene_variant MELA-AU 14 51450709 51450709 single base substitution A C intron_variant MELA-AU 14 51450709 51450709 single base substitution A C upstream_gene_variant MELA-AU 14 51450800 51450800 single base substitution C T intron_variant MELA-AU 14 51450800 51450800 single base substitution C T upstream_gene_variant MELA-AU 14 51451255 51451255 single base substitution G A intron_variant MELA-AU 14 51451255 51451255 single base substitution G A upstream_gene_variant MELA-AU 14 51451279 51451279 single base substitution G A intron_variant MELA-AU 14 51451279 51451279 single base substitution G A upstream_gene_variant MELA-AU 14 51451326 51451326 single base substitution G A intron_variant MELA-AU 14 51451326 51451326 single base substitution G A upstream_gene_variant MELA-AU 14 51451576 51451576 single base substitution A T intron_variant MELA-AU 14 51451576 51451576 single base substitution A T upstream_gene_variant MELA-AU 14 51451784 51451784 single base substitution G A intron_variant MELA-AU 14 51451784 51451784 single base substitution G A upstream_gene_variant MELA-AU 14 51452573 51452574 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51452573 51452574 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 51453029 51453029 single base substitution G A exon_variant MELA-AU 14 51453029 51453029 single base substitution G A intron_variant MELA-AU 14 51453029 51453029 single base substitution G A upstream_gene_variant MELA-AU 14 51453362 51453362 single base substitution G A intron_variant MELA-AU 14 51453362 51453362 single base substitution G A upstream_gene_variant MELA-AU 14 51454057 51454057 single base substitution A T intron_variant MELA-AU 14 51454057 51454057 single base substitution A T upstream_gene_variant MELA-AU 14 51454212 51454212 single base substitution G A intron_variant MELA-AU 14 51454212 51454212 single base substitution G A upstream_gene_variant MELA-AU 14 51454445 51454445 single base substitution G A intron_variant MELA-AU 14 51454445 51454445 single base substitution G A upstream_gene_variant MELA-AU 14 51455140 51455140 single base substitution T C intron_variant MELA-AU 14 51455140 51455140 single base substitution T C upstream_gene_variant MELA-AU 14 51455319 51455319 single base substitution C T intron_variant MELA-AU 14 51455319 51455319 single base substitution C T upstream_gene_variant MELA-AU 14 51455502 51455502 single base substitution C T intron_variant MELA-AU 14 51455502 51455502 single base substitution C T upstream_gene_variant MELA-AU 14 51455656 51455656 single base substitution G A intron_variant MELA-AU 14 51455656 51455656 single base substitution G A upstream_gene_variant MELA-AU 14 51455661 51455661 single base substitution C T intron_variant MELA-AU 14 51455661 51455661 single base substitution C T upstream_gene_variant MELA-AU 14 51456478 51456478 single base substitution G A intron_variant MELA-AU 14 51456478 51456478 single base substitution G A upstream_gene_variant MELA-AU 14 51456501 51456501 single base substitution C T intron_variant MELA-AU 14 51456501 51456501 single base substitution C T upstream_gene_variant MELA-AU 14 51456834 51456834 single base substitution C T intron_variant MELA-AU 14 51456834 51456834 single base substitution C T upstream_gene_variant MELA-AU 14 51456838 51456838 single base substitution G A intron_variant MELA-AU 14 51456838 51456838 single base substitution G A upstream_gene_variant MELA-AU 14 51456845 51456845 single base substitution C T intron_variant MELA-AU 14 51456845 51456845 single base substitution C T upstream_gene_variant MELA-AU 14 51457282 51457282 single base substitution G A intron_variant MELA-AU 14 51457282 51457282 single base substitution G A upstream_gene_variant MELA-AU 14 51457874 51457874 single base substitution G A downstream_gene_variant MELA-AU 14 51457874 51457874 single base substitution G A intron_variant MELA-AU 14 51457874 51457874 single base substitution G A upstream_gene_variant MELA-AU 14 51458015 51458015 single base substitution G A downstream_gene_variant MELA-AU 14 51458015 51458015 single base substitution G A intron_variant MELA-AU 14 51458015 51458015 single base substitution G A upstream_gene_variant MELA-AU 14 51459044 51459044 single base substitution C T downstream_gene_variant MELA-AU 14 51459044 51459044 single base substitution C T intron_variant MELA-AU 14 51459044 51459044 single base substitution C T upstream_gene_variant MELA-AU 14 51459319 51459319 single base substitution G A downstream_gene_variant MELA-AU 14 51459319 51459319 single base substitution G A intron_variant MELA-AU 14 51459319 51459319 single base substitution G A upstream_gene_variant MELA-AU 14 51459859 51459860 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 51459859 51459860 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51459859 51459860 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 51459915 51459915 single base substitution G A downstream_gene_variant MELA-AU 14 51459915 51459915 single base substitution G A intron_variant MELA-AU 14 51459915 51459915 single base substitution G A upstream_gene_variant MELA-AU 14 51459966 51459966 single base substitution G A downstream_gene_variant MELA-AU 14 51459966 51459966 single base substitution G A intron_variant MELA-AU 14 51459966 51459966 single base substitution G A upstream_gene_variant MELA-AU 14 51459973 51459973 single base substitution C T downstream_gene_variant MELA-AU 14 51459973 51459973 single base substitution C T intron_variant MELA-AU 14 51459973 51459973 single base substitution C T upstream_gene_variant MELA-AU 14 51460136 51460136 single base substitution G A downstream_gene_variant MELA-AU 14 51460136 51460136 single base substitution G A intron_variant MELA-AU 14 51460306 51460306 single base substitution G A downstream_gene_variant MELA-AU 14 51460306 51460306 single base substitution G A intron_variant MELA-AU 14 51460668 51460668 single base substitution G A downstream_gene_variant MELA-AU 14 51460668 51460668 single base substitution G A intron_variant MELA-AU 14 51460779 51460779 single base substitution G A downstream_gene_variant MELA-AU 14 51460779 51460779 single base substitution G A intron_variant MELA-AU 14 51460869 51460869 single base substitution A C downstream_gene_variant MELA-AU 14 51460869 51460869 single base substitution A C intron_variant MELA-AU 14 51460894 51460894 single base substitution G A downstream_gene_variant MELA-AU 14 51460894 51460894 single base substitution G A intron_variant MELA-AU 14 51461133 51461133 single base substitution G A downstream_gene_variant MELA-AU 14 51461133 51461133 single base substitution G A intron_variant MELA-AU 14 51461329 51461329 single base substitution C T downstream_gene_variant MELA-AU 14 51461329 51461329 single base substitution C T intron_variant MELA-AU 14 51461527 51461527 single base substitution C T downstream_gene_variant MELA-AU 14 51461527 51461527 single base substitution C T intron_variant MELA-AU 14 51461731 51461731 single base substitution C T downstream_gene_variant MELA-AU 14 51461731 51461731 single base substitution C T intron_variant MELA-AU 14 51461982 51461982 single base substitution C T downstream_gene_variant MELA-AU 14 51461982 51461982 single base substitution C T intron_variant MELA-AU 14 51462016 51462016 single base substitution A G downstream_gene_variant MELA-AU 14 51462016 51462016 single base substitution A G intron_variant MELA-AU 14 51462397 51462397 single base substitution G A downstream_gene_variant MELA-AU 14 51462397 51462397 single base substitution G A intron_variant MELA-AU 14 51462426 51462426 single base substitution G A downstream_gene_variant MELA-AU 14 51462426 51462426 single base substitution G A intron_variant MELA-AU 14 51463037 51463037 single base substitution C T 3_prime_UTR_variant MELA-AU 14 51463037 51463037 single base substitution C T intron_variant MELA-AU 14 51463224 51463224 single base substitution C T 3_prime_UTR_variant MELA-AU 14 51463224 51463224 single base substitution C T intron_variant MELA-AU 14 51463455 51463455 single base substitution A G 3_prime_UTR_variant MELA-AU 14 51463455 51463455 single base substitution A G intron_variant MELA-AU 14 51463480 51463480 single base substitution G A 3_prime_UTR_variant MELA-AU 14 51463480 51463480 single base substitution G A intron_variant MELA-AU 14 51463609 51463609 single base substitution C T 3_prime_UTR_variant MELA-AU 14 51463609 51463609 single base substitution C T intron_variant MELA-AU 14 51463942 51463942 single base substitution T C 3_prime_UTR_variant MELA-AU 14 51463942 51463942 single base substitution T C intron_variant MELA-AU 14 51463978 51463978 single base substitution C T 3_prime_UTR_variant MELA-AU 14 51463978 51463978 single base substitution C T intron_variant MELA-AU 14 51464156 51464156 single base substitution C T 3_prime_UTR_variant MELA-AU 14 51464156 51464156 single base substitution C T intron_variant MELA-AU 14 51464219 51464219 single base substitution G A 3_prime_UTR_variant MELA-AU 14 51464219 51464219 single base substitution G A intron_variant MELA-AU 14 51464383 51464383 single base substitution T A 3_prime_UTR_variant MELA-AU 14 51464383 51464383 single base substitution T A intron_variant MELA-AU 14 51465382 51465382 single base substitution C T intron_variant MELA-AU 14 51465448 51465448 single base substitution A C intron_variant MELA-AU 14 51465907 51465907 single base substitution G A intron_variant MELA-AU 14 51465948 51465948 single base substitution G A intron_variant MELA-AU 14 51466123 51466123 single base substitution T A intron_variant MELA-AU 14 51466328 51466328 single base substitution G A intron_variant MELA-AU 14 51466333 51466333 single base substitution T C intron_variant MELA-AU 14 51466392 51466393 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51466432 51466432 single base substitution T C intron_variant MELA-AU 14 51466658 51466658 single base substitution C T intron_variant MELA-AU 14 51466794 51466794 single base substitution A G intron_variant MELA-AU 14 51467441 51467441 single base substitution T C missense_variant Y471C 1412A>G MELA-AU 14 51467441 51467441 single base substitution T C missense_variant Y475C 1424A>G MELA-AU 14 51467862 51467862 single base substitution G A intron_variant MELA-AU 14 51468046 51468046 single base substitution C T intron_variant MELA-AU 14 51468064 51468065 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 14 51468281 51468281 single base substitution G A intron_variant MELA-AU 14 51468878 51468878 single base substitution C T intron_variant MELA-AU 14 51468908 51468908 single base substitution C T intron_variant MELA-AU 14 51469140 51469141 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51469214 51469214 single base substitution A T intron_variant MELA-AU 14 51469221 51469221 single base substitution T C intron_variant MELA-AU 14 51469660 51469660 single base substitution T C intron_variant MELA-AU 14 51469708 51469708 single base substitution G A intron_variant MELA-AU 14 51469873 51469873 single base substitution T C intron_variant MELA-AU 14 51470119 51470119 single base substitution C T intron_variant MELA-AU 14 51470423 51470423 single base substitution A G intron_variant MELA-AU 14 51470544 51470544 single base substitution C T intron_variant MELA-AU 14 51470752 51470752 single base substitution G A intron_variant MELA-AU 14 51470873 51470873 single base substitution G A intron_variant MELA-AU 14 51470887 51470887 single base substitution T A intron_variant MELA-AU 14 51471012 51471012 single base substitution C T intron_variant MELA-AU 14 51471201 51471201 single base substitution C T intron_variant MELA-AU 14 51472137 51472173 deletion of <=200bp TCCTGGTTCAGAATGAACAAACTGGCATTTCACTTCA - intron_variant MELA-AU 14 51472522 51472522 single base substitution T C intron_variant MELA-AU 14 51472553 51472553 single base substitution G A intron_variant MELA-AU 14 51472962 51472962 single base substitution C T intron_variant MELA-AU 14 51474305 51474305 single base substitution C G intron_variant MELA-AU 14 51474909 51474909 single base substitution C T intron_variant MELA-AU 14 51475243 51475244 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51475253 51475253 single base substitution C T intron_variant MELA-AU 14 51475560 51475560 single base substitution C T intron_variant MELA-AU 14 51475967 51475967 single base substitution G A intron_variant MELA-AU 14 51476583 51476584 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51476848 51476848 single base substitution G A intron_variant MELA-AU 14 51476962 51476962 single base substitution C T intron_variant MELA-AU 14 51477119 51477119 single base substitution G A missense_variant P379S 1135C>T MELA-AU 14 51477822 51477822 single base substitution G A intron_variant MELA-AU 14 51478535 51478535 single base substitution G A intron_variant MELA-AU 14 51478587 51478587 single base substitution C T intron_variant MELA-AU 14 51478627 51478627 single base substitution A C intron_variant MELA-AU 14 51478686 51478686 single base substitution C T intron_variant MELA-AU 14 51478839 51478839 single base substitution C T intron_variant MELA-AU 14 51478984 51478984 single base substitution C T intron_variant MELA-AU 14 51479001 51479001 single base substitution G A intron_variant MELA-AU 14 51479007 51479007 single base substitution C T intron_variant MELA-AU 14 51479080 51479080 single base substitution A T intron_variant MELA-AU 14 51479469 51479469 single base substitution C T intron_variant MELA-AU 14 51479541 51479541 single base substitution C T intron_variant MELA-AU 14 51479670 51479670 single base substitution C T intron_variant MELA-AU 14 51479679 51479679 single base substitution G A intron_variant MELA-AU 14 51479920 51479920 single base substitution G A intron_variant MELA-AU 14 51479967 51479967 single base substitution G A intron_variant MELA-AU 14 51480181 51480181 single base substitution G A intron_variant MELA-AU 14 51480840 51480840 single base substitution C T intron_variant MELA-AU 14 51481217 51481217 single base substitution C T intron_variant MELA-AU 14 51481683 51481683 single base substitution G T intron_variant MELA-AU 14 51481921 51481921 single base substitution T A intron_variant MELA-AU 14 51482264 51482264 single base substitution C T intron_variant MELA-AU 14 51482709 51482709 single base substitution C T intron_variant MELA-AU 14 51482749 51482749 single base substitution C T intron_variant MELA-AU 14 51482943 51482944 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 51483072 51483072 single base substitution G A intron_variant MELA-AU 14 51483953 51483953 single base substitution C T intron_variant MELA-AU 14 51484056 51484056 single base substitution G A intron_variant MELA-AU 14 51484336 51484336 single base substitution A G intron_variant MELA-AU 14 51484701 51484701 single base substitution G A intron_variant MELA-AU 14 51484911 51484911 single base substitution G T intron_variant MELA-AU 14 51485080 51485080 single base substitution C T intron_variant MELA-AU 14 51485823 51485823 single base substitution C T intron_variant MELA-AU 14 51486347 51486347 single base substitution C T intron_variant MELA-AU 14 51486738 51486738 single base substitution G A intron_variant MELA-AU 14 51487344 51487344 single base substitution G C intron_variant MELA-AU 14 51488539 51488539 single base substitution C T intron_variant MELA-AU 14 51489376 51489376 single base substitution G A intron_variant MELA-AU 14 51489611 51489611 deletion of <=200bp T - frameshift_variant N328 MELA-AU 14 51489778 51489778 single base substitution C T intron_variant MELA-AU 14 51490453 51490470 deletion of <=200bp ATATATGCAATTTTGCAT - intron_variant MELA-AU 14 51491496 51491496 single base substitution A T intron_variant MELA-AU 14 51491672 51491673 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 51491714 51491714 single base substitution C T intron_variant MELA-AU 14 51491877 51491877 single base substitution G A intron_variant MELA-AU 14 51492463 51492463 single base substitution G A intron_variant MELA-AU 14 51493028 51493028 single base substitution G T intron_variant MELA-AU 14 51493247 51493247 single base substitution C T intron_variant MELA-AU 14 51493484 51493484 single base substitution G A intron_variant MELA-AU 14 51493505 51493505 single base substitution C T intron_variant MELA-AU 14 51494061 51494061 single base substitution C T intron_variant MELA-AU 14 51494087 51494087 single base substitution C T intron_variant MELA-AU 14 51494108 51494108 single base substitution C T intron_variant MELA-AU 14 51494532 51494532 single base substitution C T intron_variant MELA-AU 14 51494808 51494808 single base substitution C T intron_variant MELA-AU 14 51494834 51494834 single base substitution C T intron_variant MELA-AU 14 51494873 51494873 single base substitution G A intron_variant MELA-AU 14 51495348 51495348 single base substitution G A intron_variant MELA-AU 14 51495583 51495583 single base substitution A G intron_variant MELA-AU 14 51496149 51496149 single base substitution C T intron_variant MELA-AU 14 51496153 51496153 single base substitution T A intron_variant MELA-AU 14 51496162 51496163 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 14 51496258 51496258 single base substitution G A intron_variant MELA-AU 14 51496531 51496531 single base substitution G A intron_variant MELA-AU 14 51496731 51496731 single base substitution T G intron_variant MELA-AU 14 51496841 51496841 single base substitution G A intron_variant MELA-AU 14 51496968 51496968 single base substitution G A intron_variant MELA-AU 14 51497433 51497433 single base substitution G A intron_variant MELA-AU 14 51497690 51497690 single base substitution C T intron_variant MELA-AU 14 51498080 51498080 single base substitution C T intron_variant MELA-AU 14 51498241 51498241 single base substitution G A intron_variant MELA-AU 14 51498585 51498585 single base substitution C T intron_variant MELA-AU 14 51498847 51498847 single base substitution C T intron_variant MELA-AU 14 51498864 51498864 single base substitution A T intron_variant MELA-AU 14 51498929 51498929 single base substitution G A intron_variant MELA-AU 14 51498954 51498954 single base substitution G A intron_variant MELA-AU 14 51499135 51499135 single base substitution G A intron_variant MELA-AU 14 51499402 51499402 single base substitution G A intron_variant MELA-AU 14 51499512 51499512 single base substitution G A intron_variant MELA-AU 14 51499871 51499871 single base substitution G A intron_variant MELA-AU 14 51499953 51499953 single base substitution G A intron_variant MELA-AU 14 51500161 51500161 single base substitution G A intron_variant MELA-AU 14 51500263 51500263 single base substitution G A intron_variant MELA-AU 14 51500481 51500481 single base substitution A C intron_variant MELA-AU 14 51501060 51501060 single base substitution G A intron_variant MELA-AU 14 51501121 51501121 single base substitution A T intron_variant MELA-AU 14 51501134 51501134 single base substitution C T intron_variant MELA-AU 14 51501265 51501265 single base substitution G A intron_variant MELA-AU 14 51501321 51501321 single base substitution G A intron_variant MELA-AU 14 51501484 51501484 single base substitution G A intron_variant MELA-AU 14 51501838 51501838 single base substitution C T intron_variant MELA-AU 14 51502120 51502120 single base substitution G A intron_variant MELA-AU 14 51502213 51502213 single base substitution G A intron_variant MELA-AU 14 51502344 51502344 single base substitution G A intron_variant MELA-AU 14 51502380 51502380 single base substitution C T intron_variant MELA-AU 14 51502408 51502408 single base substitution T G intron_variant MELA-AU 14 51502475 51502475 single base substitution G A intron_variant MELA-AU 14 51503267 51503267 single base substitution C T intron_variant MELA-AU 14 51503749 51503749 single base substitution T G intron_variant MELA-AU 14 51503791 51503791 single base substitution C T intron_variant MELA-AU 14 51503933 51503933 single base substitution G A intron_variant MELA-AU 14 51504047 51504047 single base substitution C T intron_variant MELA-AU 14 51504080 51504080 single base substitution G A intron_variant MELA-AU 14 51504101 51504101 single base substitution C T intron_variant MELA-AU 14 51504108 51504108 single base substitution C T intron_variant MELA-AU 14 51504214 51504214 single base substitution G A intron_variant MELA-AU 14 51504227 51504227 single base substitution A C intron_variant MELA-AU 14 51504358 51504358 single base substitution G A intron_variant MELA-AU 14 51504464 51504464 single base substitution C T intron_variant MELA-AU 14 51504893 51504893 single base substitution G A intron_variant MELA-AU 14 51505014 51505014 single base substitution G A intron_variant MELA-AU 14 51505374 51505374 single base substitution C T intron_variant MELA-AU 14 51505390 51505390 single base substitution G A intron_variant MELA-AU 14 51505411 51505411 single base substitution C T intron_variant MELA-AU 14 51505770 51505770 single base substitution A T intron_variant MELA-AU 14 51505853 51505853 single base substitution G A intron_variant MELA-AU 14 51505899 51505899 single base substitution G A intron_variant MELA-AU 14 51505976 51505976 single base substitution G A intron_variant MELA-AU 14 51506044 51506044 single base substitution G A intron_variant MELA-AU 14 51506448 51506448 single base substitution A G intron_variant MELA-AU 14 51506845 51506845 single base substitution C T intron_variant MELA-AU 14 51506888 51506888 single base substitution C T intron_variant MELA-AU 14 51506987 51506987 single base substitution G A intron_variant MELA-AU 14 51507326 51507326 single base substitution A T intron_variant MELA-AU 14 51507492 51507492 single base substitution C T intron_variant MELA-AU 14 51507604 51507604 single base substitution C T intron_variant MELA-AU 14 51507995 51507995 single base substitution A C intron_variant MELA-AU 14 51508111 51508111 single base substitution G A intron_variant MELA-AU 14 51509066 51509066 single base substitution C T intron_variant MELA-AU 14 51509294 51509294 single base substitution G A intron_variant MELA-AU 14 51509480 51509480 single base substitution C T intron_variant MELA-AU 14 51509687 51509687 single base substitution C T intron_variant MELA-AU 14 51509843 51509843 single base substitution C T intron_variant MELA-AU 14 51509855 51509855 single base substitution G T intron_variant MELA-AU 14 51510079 51510079 single base substitution G A intron_variant MELA-AU 14 51510290 51510290 single base substitution G A intron_variant MELA-AU 14 51510478 51510478 single base substitution G A intron_variant MELA-AU 14 51510500 51510500 single base substitution T A intron_variant MELA-AU 14 51510708 51510708 single base substitution G A intron_variant MELA-AU 14 51511018 51511018 single base substitution C T intron_variant MELA-AU 14 51511203 51511203 single base substitution G A intron_variant MELA-AU 14 51511372 51511372 single base substitution C T intron_variant MELA-AU 14 51511645 51511645 single base substitution C T intron_variant MELA-AU 14 51511684 51511684 single base substitution G A intron_variant MELA-AU 14 51511766 51511766 single base substitution G A intron_variant MELA-AU 14 51511957 51511957 single base substitution G A intron_variant MELA-AU 14 51512172 51512172 single base substitution C T intron_variant MELA-AU 14 51512856 51512856 single base substitution G A intron_variant MELA-AU 14 51513078 51513078 single base substitution G A intron_variant MELA-AU 14 51513083 51513083 single base substitution G A intron_variant MELA-AU 14 51513142 51513142 single base substitution T A intron_variant MELA-AU 14 51513194 51513194 single base substitution G A intron_variant MELA-AU 14 51513772 51513772 single base substitution G A intron_variant MELA-AU 14 51513934 51513934 single base substitution C T intron_variant MELA-AU 14 51514093 51514093 single base substitution C T intron_variant MELA-AU 14 51514104 51514104 single base substitution C T intron_variant MELA-AU 14 51514212 51514212 single base substitution C T intron_variant MELA-AU 14 51514371 51514372 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 51514610 51514610 single base substitution C T intron_variant MELA-AU 14 51514696 51514696 single base substitution C T intron_variant MELA-AU 14 51515083 51515083 single base substitution G A intron_variant MELA-AU 14 51515282 51515282 single base substitution T A intron_variant MELA-AU 14 51515438 51515438 single base substitution C T intron_variant MELA-AU 14 51515469 51515469 single base substitution G A intron_variant MELA-AU 14 51515651 51515651 single base substitution G A intron_variant MELA-AU 14 51515705 51515705 single base substitution A T intron_variant MELA-AU 14 51515733 51515733 single base substitution G A intron_variant MELA-AU 14 51515931 51515932 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 14 51515946 51515946 single base substitution A G intron_variant MELA-AU 14 51516026 51516026 single base substitution G A intron_variant MELA-AU 14 51516445 51516445 single base substitution G T intron_variant MELA-AU 14 51516526 51516526 single base substitution G A intron_variant MELA-AU 14 51516819 51516819 single base substitution G A intron_variant MELA-AU 14 51516885 51516885 single base substitution A C intron_variant MELA-AU 14 51517460 51517460 single base substitution C T intron_variant MELA-AU 14 51518378 51518378 single base substitution G A intron_variant MELA-AU 14 51518853 51518853 single base substitution G A intron_variant MELA-AU 14 51518939 51518939 single base substitution C T intron_variant MELA-AU 14 51518952 51518952 single base substitution G A intron_variant MELA-AU 14 51518995 51518995 single base substitution C T intron_variant MELA-AU 14 51519254 51519254 single base substitution G A intron_variant MELA-AU 14 51520505 51520505 single base substitution C T intron_variant MELA-AU 14 51521219 51521219 single base substitution C T intron_variant MELA-AU 14 51521387 51521387 single base substitution G A intron_variant MELA-AU 14 51521482 51521482 single base substitution G A intron_variant MELA-AU 14 51521571 51521571 single base substitution G A intron_variant MELA-AU 14 51521976 51521976 single base substitution G A intron_variant MELA-AU 14 51522111 51522111 single base substitution C T intron_variant MELA-AU 14 51522259 51522259 single base substitution G A intron_variant MELA-AU 14 51522748 51522748 single base substitution C T intron_variant MELA-AU 14 51522752 51522752 single base substitution A T intron_variant MELA-AU 14 51522884 51522884 single base substitution G A intron_variant MELA-AU 14 51522967 51522967 single base substitution C T intron_variant MELA-AU 14 51523269 51523269 single base substitution G A intron_variant MELA-AU 14 51523709 51523709 single base substitution A T intron_variant MELA-AU 14 51524386 51524386 single base substitution G A intron_variant MELA-AU 14 51524573 51524573 single base substitution G A intron_variant MELA-AU 14 51524714 51524714 single base substitution G A intron_variant MELA-AU 14 51524870 51524870 single base substitution C T intron_variant MELA-AU 14 51525632 51525632 single base substitution C T intron_variant MELA-AU 14 51525661 51525661 single base substitution G A intron_variant MELA-AU 14 51525755 51525755 single base substitution G A intron_variant MELA-AU 14 51525804 51525804 single base substitution C T intron_variant MELA-AU 14 51526067 51526067 single base substitution G A intron_variant MELA-AU 14 51526067 51526067 single base substitution G C intron_variant MELA-AU 14 51526423 51526425 multiple base substitution (>=2bp and <=200bp) GGA AAG intron_variant MELA-AU 14 51526470 51526470 single base substitution C T intron_variant MELA-AU 14 51527275 51527275 single base substitution C T intron_variant MELA-AU 14 51527276 51527276 single base substitution C T intron_variant MELA-AU 14 51527581 51527581 single base substitution G A intron_variant MELA-AU 14 51527968 51527968 single base substitution G A intron_variant MELA-AU 14 51527983 51527983 single base substitution T A intron_variant MELA-AU 14 51528025 51528025 single base substitution G A intron_variant MELA-AU 14 51528307 51528307 single base substitution C T intron_variant MELA-AU 14 51528327 51528327 single base substitution T G intron_variant MELA-AU 14 51528435 51528435 single base substitution C T intron_variant MELA-AU 14 51529151 51529151 single base substitution G A intron_variant MELA-AU 14 51529223 51529223 single base substitution G A intron_variant MELA-AU 14 51529323 51529323 single base substitution G A intron_variant MELA-AU 14 51529396 51529396 single base substitution G A intron_variant MELA-AU 14 51529822 51529822 single base substitution G A intron_variant MELA-AU 14 51529824 51529824 single base substitution A T intron_variant MELA-AU 14 51530245 51530245 single base substitution G A intron_variant MELA-AU 14 51530457 51530457 single base substitution A G intron_variant MELA-AU 14 51530477 51530477 single base substitution G A intron_variant MELA-AU 14 51530589 51530589 single base substitution G A intron_variant MELA-AU 14 51530711 51530711 single base substitution G A intron_variant MELA-AU 14 51531159 51531159 single base substitution G A intron_variant MELA-AU 14 51531376 51531376 single base substitution G A intron_variant MELA-AU 14 51531454 51531454 single base substitution G A intron_variant MELA-AU 14 51532011 51532011 single base substitution G A intron_variant MELA-AU 14 51532678 51532678 single base substitution C T intron_variant MELA-AU 14 51532866 51532866 single base substitution C T intron_variant MELA-AU 14 51533023 51533023 single base substitution C T intron_variant MELA-AU 14 51533125 51533125 single base substitution A G intron_variant MELA-AU 14 51533195 51533195 single base substitution C T intron_variant MELA-AU 14 51533273 51533273 single base substitution C T intron_variant MELA-AU 14 51533491 51533491 single base substitution C T intron_variant MELA-AU 14 51533551 51533551 single base substitution G A intron_variant MELA-AU 14 51533673 51533673 single base substitution G A intron_variant MELA-AU 14 51533939 51533940 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51534366 51534366 single base substitution C T intron_variant MELA-AU 14 51534447 51534447 single base substitution C T intron_variant MELA-AU 14 51534466 51534466 single base substitution C T intron_variant MELA-AU 14 51534543 51534543 single base substitution C T intron_variant MELA-AU 14 51534802 51534802 single base substitution C T intron_variant MELA-AU 14 51534973 51534973 single base substitution A G intron_variant MELA-AU 14 51535259 51535259 single base substitution C T intron_variant MELA-AU 14 51535328 51535328 single base substitution C T intron_variant MELA-AU 14 51535621 51535621 single base substitution G A intron_variant MELA-AU 14 51535768 51535768 single base substitution G A intron_variant MELA-AU 14 51535794 51535794 single base substitution G A intron_variant MELA-AU 14 51535956 51535956 single base substitution G A intron_variant MELA-AU 14 51536036 51536036 single base substitution G A intron_variant MELA-AU 14 51536117 51536117 single base substitution G A intron_variant MELA-AU 14 51536204 51536204 single base substitution T C intron_variant MELA-AU 14 51536270 51536270 single base substitution C T intron_variant MELA-AU 14 51536568 51536568 single base substitution G A intron_variant MELA-AU 14 51536833 51536834 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 51536946 51536946 single base substitution C T intron_variant MELA-AU 14 51536999 51536999 single base substitution A G intron_variant MELA-AU 14 51537729 51537729 single base substitution G A intron_variant MELA-AU 14 51537799 51537800 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 51537821 51537821 single base substitution G A intron_variant MELA-AU 14 51538082 51538082 single base substitution G A intron_variant MELA-AU 14 51538294 51538294 single base substitution G A intron_variant MELA-AU 14 51538538 51538538 single base substitution G A intron_variant MELA-AU 14 51538595 51538595 single base substitution G A intron_variant MELA-AU 14 51538740 51538740 single base substitution G A intron_variant MELA-AU 14 51538778 51538778 single base substitution G A intron_variant MELA-AU 14 51538832 51538832 single base substitution G T intron_variant MELA-AU 14 51539473 51539473 single base substitution A T intron_variant MELA-AU 14 51539610 51539610 single base substitution G A intron_variant MELA-AU 14 51539673 51539673 single base substitution G A intron_variant MELA-AU 14 51539674 51539674 single base substitution G A intron_variant MELA-AU 14 51539843 51539843 single base substitution C T intron_variant MELA-AU 14 51539858 51539858 single base substitution G A intron_variant MELA-AU 14 51540345 51540345 single base substitution G A intron_variant MELA-AU 14 51540491 51540491 single base substitution G A intron_variant MELA-AU 14 51540910 51540910 single base substitution G A intron_variant MELA-AU 14 51540970 51540970 single base substitution C T intron_variant MELA-AU 14 51541098 51541098 single base substitution G A intron_variant MELA-AU 14 51541157 51541157 single base substitution G A intron_variant MELA-AU 14 51541350 51541350 single base substitution C T intron_variant MELA-AU 14 51541444 51541444 single base substitution G A intron_variant MELA-AU 14 51541916 51541916 single base substitution G A intron_variant MELA-AU 14 51542143 51542143 single base substitution T C intron_variant MELA-AU 14 51542253 51542253 single base substitution G A intron_variant MELA-AU 14 51542283 51542283 single base substitution G A intron_variant MELA-AU 14 51542401 51542401 single base substitution C T intron_variant MELA-AU 14 51542799 51542799 single base substitution A G intron_variant MELA-AU 14 51543051 51543051 single base substitution G A intron_variant MELA-AU 14 51543154 51543154 single base substitution G A intron_variant MELA-AU 14 51543197 51543197 single base substitution C T intron_variant MELA-AU 14 51543538 51543538 single base substitution C T intron_variant MELA-AU 14 51543621 51543621 single base substitution G T intron_variant MELA-AU 14 51544255 51544255 single base substitution G A intron_variant MELA-AU 14 51544750 51544750 single base substitution A G intron_variant MELA-AU 14 51544985 51544985 single base substitution G A intron_variant MELA-AU 14 51545455 51545455 single base substitution C T intron_variant MELA-AU 14 51545552 51545552 single base substitution G A intron_variant MELA-AU 14 51545927 51545927 single base substitution G A intron_variant MELA-AU 14 51546121 51546121 single base substitution G A intron_variant MELA-AU 14 51546439 51546439 single base substitution G A intron_variant MELA-AU 14 51546797 51546797 single base substitution G A intron_variant MELA-AU 14 51547595 51547595 single base substitution C T intron_variant MELA-AU 14 51547923 51547923 single base substitution C T intron_variant MELA-AU 14 51548059 51548059 single base substitution G A intron_variant MELA-AU 14 51548243 51548243 single base substitution C T intron_variant MELA-AU 14 51548292 51548292 single base substitution A G intron_variant MELA-AU 14 51548464 51548464 single base substitution G A intron_variant MELA-AU 14 51548878 51548878 single base substitution G A intron_variant MELA-AU 14 51548899 51548899 single base substitution G A intron_variant MELA-AU 14 51548947 51548947 single base substitution G A intron_variant MELA-AU 14 51549060 51549060 single base substitution G A intron_variant MELA-AU 14 51549393 51549393 single base substitution G A intron_variant MELA-AU 14 51550149 51550149 single base substitution A T intron_variant MELA-AU 14 51550361 51550361 single base substitution G A intron_variant MELA-AU 14 51550383 51550383 single base substitution G A intron_variant MELA-AU 14 51550387 51550387 single base substitution G A intron_variant MELA-AU 14 51550414 51550414 single base substitution C T intron_variant MELA-AU 14 51550562 51550562 single base substitution A G intron_variant MELA-AU 14 51550628 51550628 single base substitution G A intron_variant MELA-AU 14 51550635 51550635 single base substitution G A intron_variant MELA-AU 14 51551431 51551431 single base substitution T A intron_variant MELA-AU 14 51552304 51552304 single base substitution C G intron_variant MELA-AU 14 51552372 51552372 single base substitution G A intron_variant MELA-AU 14 51552662 51552662 single base substitution G A intron_variant MELA-AU 14 51552810 51552810 single base substitution C T intron_variant MELA-AU 14 51553090 51553090 single base substitution C T intron_variant MELA-AU 14 51553224 51553224 single base substitution C T intron_variant MELA-AU 14 51553286 51553286 single base substitution G A intron_variant MELA-AU 14 51553358 51553358 single base substitution G A intron_variant MELA-AU 14 51553464 51553464 single base substitution G A intron_variant MELA-AU 14 51553700 51553700 single base substitution T G intron_variant MELA-AU 14 51553773 51553773 single base substitution C T intron_variant MELA-AU 14 51553952 51553952 single base substitution G A intron_variant MELA-AU 14 51553963 51553963 single base substitution G A intron_variant MELA-AU 14 51554001 51554001 single base substitution G A intron_variant MELA-AU 14 51554243 51554243 single base substitution G A intron_variant MELA-AU 14 51554413 51554413 single base substitution C T intron_variant MELA-AU 14 51554922 51554922 single base substitution A G intron_variant MELA-AU 14 51555368 51555368 single base substitution A G intron_variant MELA-AU 14 51555594 51555594 single base substitution G A intron_variant MELA-AU 14 51556438 51556438 single base substitution G A intron_variant MELA-AU 14 51556608 51556608 single base substitution G A intron_variant MELA-AU 14 51556688 51556688 single base substitution C T intron_variant MELA-AU 14 51556689 51556689 single base substitution C T intron_variant MELA-AU 14 51557019 51557019 single base substitution C G intron_variant MELA-AU 14 51557198 51557198 single base substitution A T intron_variant MELA-AU 14 51557407 51557407 single base substitution C T intron_variant MELA-AU 14 51557705 51557705 single base substitution T A intron_variant MELA-AU 14 51557706 51557706 single base substitution G A intron_variant MELA-AU 14 51558566 51558566 single base substitution C A intron_variant MELA-AU 14 51558728 51558728 single base substitution T C intron_variant MELA-AU 14 51558863 51558863 single base substitution G A intron_variant MELA-AU 14 51558944 51558944 single base substitution C T intron_variant MELA-AU 14 51559084 51559084 single base substitution G A intron_variant MELA-AU 14 51559380 51559380 single base substitution G A intron_variant MELA-AU 14 51559418 51559418 single base substitution C T intron_variant MELA-AU 14 51559463 51559463 single base substitution C T intron_variant MELA-AU 14 51559797 51559797 single base substitution G A intron_variant MELA-AU 14 51560196 51560196 single base substitution C T intron_variant MELA-AU 14 51560344 51560344 single base substitution C T intron_variant MELA-AU 14 51560453 51560453 single base substitution C T intron_variant MELA-AU 14 51560982 51560982 single base substitution C T missense_variant V226I 676G>A MELA-AU 14 51561083 51561083 single base substitution G A missense_variant P192L 575C>T MELA-AU 14 51561231 51561231 single base substitution G A missense_variant R143C 427C>T MELA-AU 14 51561280 51561280 single base substitution G A synonymous_variant I126I 378C>T MELA-AU 14 51561426 51561426 single base substitution A T missense_variant Y78N 232T>A MELA-AU 14 51561934 51561934 single base substitution G A 5_prime_UTR_variant MELA-AU 14 51561934 51561934 single base substitution G A upstream_gene_variant MELA-AU 14 51561938 51561938 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 14 51561938 51561938 single base substitution G A upstream_gene_variant MELA-AU 14 51563001 51563001 single base substitution G A upstream_gene_variant MELA-AU 14 51563074 51563074 single base substitution G A upstream_gene_variant MELA-AU 14 51563546 51563546 single base substitution G A upstream_gene_variant MELA-AU 14 51563698 51563698 single base substitution C T upstream_gene_variant MELA-AU 14 51563976 51563976 single base substitution G A upstream_gene_variant MELA-AU 14 51564232 51564233 multiple base substitution (>=2bp and <=200bp) TG CA upstream_gene_variant MELA-AU 14 51564240 51564240 single base substitution C T upstream_gene_variant MELA-AU 14 51564281 51564281 single base substitution C T upstream_gene_variant MELA-AU 14 51564550 51564550 single base substitution T G upstream_gene_variant MELA-AU 14 51564696 51564696 single base substitution C T upstream_gene_variant MELA-AU 14 51564994 51564994 single base substitution G A upstream_gene_variant MELA-AU 14 51565125 51565125 single base substitution A T upstream_gene_variant MELA-AU 14 51565139 51565139 single base substitution C T upstream_gene_variant MELA-AU 14 51565458 51565458 single base substitution C T upstream_gene_variant MELA-AU 14 51565689 51565689 single base substitution G A upstream_gene_variant MELA-AU 14 51565754 51565754 single base substitution G A upstream_gene_variant MELA-AU 14 51565884 51565884 single base substitution G A upstream_gene_variant MELA-AU 14 51565885 51565885 single base substitution G A upstream_gene_variant MELA-AU 14 51566307 51566307 single base substitution G A upstream_gene_variant MELA-AU 14 51566580 51566580 single base substitution G A upstream_gene_variant MELA-AU 14 51566621 51566621 single base substitution G A upstream_gene_variant MELA-AU 14 51566686 51566686 single base substitution C G upstream_gene_variant MELA-AU 14 51566738 51566738 single base substitution G A upstream_gene_variant MELA-AU 14 51566943 51566943 single base substitution G A upstream_gene_variant MELA-AU 14 51567001 51567001 single base substitution G A upstream_gene_variant MELA-AU 14 51567069 51567069 single base substitution G A upstream_gene_variant MELA-AU 14 51567070 51567070 single base substitution G A upstream_gene_variant MELA-AU 14 51567431 51567431 single base substitution C T upstream_gene_variant MELA-AU 14 51567649 51567649 single base substitution C T upstream_gene_variant ORCA-IN 14 51441676 51441676 single base substitution G A downstream_gene_variant ORCA-IN 14 51461028 51461028 single base substitution G A downstream_gene_variant ORCA-IN 14 51461028 51461028 single base substitution G A intron_variant ORCA-IN 14 51467409 51467409 single base substitution G T missense_variant Q482K 1444C>A ORCA-IN 14 51467409 51467409 single base substitution G T missense_variant Q486K 1456C>A ORCA-IN 14 51477965 51477965 single base substitution G T intron_variant ORCA-IN 14 51484507 51484507 single base substitution C T intron_variant ORCA-IN 14 51491115 51491115 single base substitution C A intron_variant ORCA-IN 14 51521657 51521657 single base substitution C G intron_variant ORCA-IN 14 51523315 51523315 deletion of <=200bp C - intron_variant ORCA-IN 14 51538192 51538192 single base substitution G T intron_variant ORCA-IN 14 51547164 51547164 single base substitution C A intron_variant ORCA-IN 14 51558497 51558497 single base substitution C T intron_variant ORCA-IN 14 51560126 51560126 single base substitution G A intron_variant ORCA-IN 14 51561144 51561144 single base substitution C A stop_gained E172* 514G>T ORCA-IN 14 51562100 51562100 single base substitution G A 5_prime_UTR_variant ORCA-IN 14 51562100 51562100 single base substitution G A upstream_gene_variant OV-AU 14 51439564 51439564 single base substitution A G downstream_gene_variant OV-AU 14 51449238 51449238 single base substitution A G downstream_gene_variant OV-AU 14 51449238 51449238 single base substitution A G intron_variant OV-AU 14 51449238 51449238 single base substitution A G upstream_gene_variant OV-AU 14 51453614 51453614 single base substitution T G intron_variant OV-AU 14 51453614 51453614 single base substitution T G upstream_gene_variant OV-AU 14 51464137 51464137 single base substitution C T 3_prime_UTR_variant OV-AU 14 51464137 51464137 single base substitution C T intron_variant OV-AU 14 51467347 51467347 single base substitution T A intron_variant OV-AU 14 51472241 51472241 single base substitution G A intron_variant OV-AU 14 51474000 51474000 single base substitution G T intron_variant OV-AU 14 51474001 51474001 single base substitution A T intron_variant OV-AU 14 51476249 51476249 single base substitution C A intron_variant OV-AU 14 51491396 51491396 single base substitution T C intron_variant OV-AU 14 51493089 51493089 single base substitution G T intron_variant OV-AU 14 51494179 51494179 single base substitution T C intron_variant OV-AU 14 51495743 51495743 single base substitution A G intron_variant OV-AU 14 51504435 51504435 single base substitution A T intron_variant OV-AU 14 51505190 51505190 single base substitution G C intron_variant OV-AU 14 51508996 51508996 single base substitution C A intron_variant OV-AU 14 51508997 51508997 single base substitution C A intron_variant OV-AU 14 51512520 51512520 single base substitution C A intron_variant OV-AU 14 51512523 51512523 single base substitution T G intron_variant OV-AU 14 51512545 51512545 single base substitution C A intron_variant OV-AU 14 51516578 51516578 single base substitution T C intron_variant OV-AU 14 51519013 51519013 single base substitution C T intron_variant OV-AU 14 51519447 51519447 single base substitution C T intron_variant OV-AU 14 51519784 51519784 single base substitution G A intron_variant OV-AU 14 51521787 51521787 single base substitution G A intron_variant OV-AU 14 51523036 51523036 single base substitution C T intron_variant OV-AU 14 51526157 51526157 single base substitution A C intron_variant OV-AU 14 51526902 51526902 single base substitution C T intron_variant OV-AU 14 51528986 51528986 single base substitution G C intron_variant OV-AU 14 51529393 51529393 single base substitution C A intron_variant OV-AU 14 51538081 51538081 single base substitution T A intron_variant OV-AU 14 51540281 51540281 single base substitution G T intron_variant OV-AU 14 51540840 51540840 single base substitution A C intron_variant OV-AU 14 51543855 51543855 single base substitution C G intron_variant OV-AU 14 51550008 51550008 single base substitution T G intron_variant OV-AU 14 51550011 51550011 single base substitution C T intron_variant OV-AU 14 51551654 51551654 single base substitution C G intron_variant OV-AU 14 51552279 51552279 single base substitution C G intron_variant OV-AU 14 51562857 51562857 single base substitution C T upstream_gene_variant OV-AU 14 51563856 51563856 single base substitution G A upstream_gene_variant OV-AU 14 51567336 51567336 single base substitution A T upstream_gene_variant PACA-AU 14 51437649 51437649 single base substitution A C downstream_gene_variant PACA-AU 14 51440032 51440032 single base substitution G A downstream_gene_variant PACA-AU 14 51441571 51441571 single base substitution T A downstream_gene_variant PACA-AU 14 51442984 51442984 single base substitution T C 3_prime_UTR_variant PACA-AU 14 51442984 51442984 single base substitution T C downstream_gene_variant PACA-AU 14 51443582 51443582 single base substitution A C 3_prime_UTR_variant PACA-AU 14 51443582 51443582 single base substitution A C downstream_gene_variant PACA-AU 14 51450797 51450797 single base substitution C A intron_variant PACA-AU 14 51450797 51450797 single base substitution C A upstream_gene_variant PACA-AU 14 51451091 51451091 single base substitution T C intron_variant PACA-AU 14 51451091 51451091 single base substitution T C upstream_gene_variant PACA-AU 14 51452613 51452613 single base substitution G A intron_variant PACA-AU 14 51452613 51452613 single base substitution G A upstream_gene_variant PACA-AU 14 51452802 51452802 single base substitution C T exon_variant PACA-AU 14 51452802 51452802 single base substitution C T intron_variant PACA-AU 14 51452802 51452802 single base substitution C T missense_variant R551H 1652G>A PACA-AU 14 51452802 51452802 single base substitution C T upstream_gene_variant PACA-AU 14 51455107 51455107 single base substitution C T intron_variant PACA-AU 14 51455107 51455107 single base substitution C T upstream_gene_variant PACA-AU 14 51456211 51456211 single base substitution G C intron_variant PACA-AU 14 51456211 51456211 single base substitution G C upstream_gene_variant PACA-AU 14 51456472 51456472 single base substitution C T intron_variant PACA-AU 14 51456472 51456472 single base substitution C T upstream_gene_variant PACA-AU 14 51459085 51459085 single base substitution C T downstream_gene_variant PACA-AU 14 51459085 51459085 single base substitution C T intron_variant PACA-AU 14 51459085 51459085 single base substitution C T upstream_gene_variant PACA-AU 14 51462661 51462661 single base substitution T C downstream_gene_variant PACA-AU 14 51462661 51462661 single base substitution T C intron_variant PACA-AU 14 51463789 51463789 single base substitution C T 3_prime_UTR_variant PACA-AU 14 51463789 51463789 single base substitution C T intron_variant PACA-AU 14 51464975 51464975 single base substitution G A intron_variant PACA-AU 14 51466082 51466082 single base substitution C A intron_variant PACA-AU 14 51468374 51468374 single base substitution A T intron_variant PACA-AU 14 51475336 51475336 insertion of <=200bp - T intron_variant PACA-AU 14 51479334 51479334 insertion of <=200bp - T intron_variant PACA-AU 14 51482682 51482682 single base substitution C T intron_variant PACA-AU 14 51484528 51484528 single base substitution G A intron_variant PACA-AU 14 51485881 51485881 single base substitution A C intron_variant PACA-AU 14 51489806 51489806 single base substitution A T intron_variant PACA-AU 14 51499074 51499074 single base substitution C T intron_variant PACA-AU 14 51499223 51499223 deletion of <=200bp C - intron_variant PACA-AU 14 51499557 51499557 single base substitution C A intron_variant PACA-AU 14 51499745 51499745 single base substitution G A intron_variant PACA-AU 14 51499901 51499901 single base substitution G A intron_variant PACA-AU 14 51500572 51500572 single base substitution T G intron_variant PACA-AU 14 51501306 51501306 single base substitution G A intron_variant PACA-AU 14 51505165 51505165 single base substitution T A intron_variant PACA-AU 14 51510069 51510069 single base substitution G T intron_variant PACA-AU 14 51510459 51510459 single base substitution C A intron_variant PACA-AU 14 51511777 51511777 single base substitution A G intron_variant PACA-AU 14 51512820 51512820 single base substitution G A intron_variant PACA-AU 14 51513671 51513671 single base substitution T C intron_variant PACA-AU 14 51515395 51515395 single base substitution G T intron_variant PACA-AU 14 51516090 51516090 single base substitution C T intron_variant PACA-AU 14 51520247 51520247 single base substitution T A intron_variant PACA-AU 14 51520291 51520291 single base substitution T C intron_variant PACA-AU 14 51520575 51520575 single base substitution C T intron_variant PACA-AU 14 51528674 51528674 single base substitution T A intron_variant PACA-AU 14 51531157 51531157 single base substitution C T intron_variant PACA-AU 14 51543140 51543140 single base substitution G A intron_variant PACA-AU 14 51545647 51545647 single base substitution A T intron_variant PACA-AU 14 51549581 51549581 single base substitution C A intron_variant PACA-AU 14 51558291 51558291 single base substitution A C intron_variant PACA-AU 14 51561909 51561911 deletion of <=200bp GCG - 5_prime_UTR_variant PACA-AU 14 51561909 51561911 deletion of <=200bp GCG - upstream_gene_variant PACA-AU 14 51566457 51566457 single base substitution C A upstream_gene_variant PACA-CA 14 51437119 51437119 single base substitution G A downstream_gene_variant PACA-CA 14 51440834 51440834 single base substitution C T downstream_gene_variant PACA-CA 14 51442638 51442638 single base substitution T C 3_prime_UTR_variant PACA-CA 14 51442638 51442638 single base substitution T C downstream_gene_variant PACA-CA 14 51442726 51442726 single base substitution A T 3_prime_UTR_variant PACA-CA 14 51442726 51442726 single base substitution A T downstream_gene_variant PACA-CA 14 51443963 51443963 single base substitution G A 3_prime_UTR_variant PACA-CA 14 51443963 51443963 single base substitution G A downstream_gene_variant PACA-CA 14 51445569 51445569 single base substitution T A 3_prime_UTR_variant PACA-CA 14 51445569 51445569 single base substitution T A downstream_gene_variant PACA-CA 14 51445569 51445569 single base substitution T A intron_variant PACA-CA 14 51447892 51447892 single base substitution T C downstream_gene_variant PACA-CA 14 51447892 51447892 single base substitution T C intron_variant PACA-CA 14 51448529 51448529 single base substitution C T downstream_gene_variant PACA-CA 14 51448529 51448529 single base substitution C T exon_variant PACA-CA 14 51448529 51448529 single base substitution C T synonymous_variant S632S 1896G>A PACA-CA 14 51448529 51448529 single base substitution C T synonymous_variant S713S 2139G>A PACA-CA 14 51449196 51449196 single base substitution G A downstream_gene_variant PACA-CA 14 51449196 51449196 single base substitution G A intron_variant PACA-CA 14 51449196 51449196 single base substitution G A upstream_gene_variant PACA-CA 14 51449419 51449419 single base substitution A G downstream_gene_variant PACA-CA 14 51449419 51449419 single base substitution A G exon_variant PACA-CA 14 51449419 51449419 single base substitution A G intron_variant PACA-CA 14 51449419 51449419 single base substitution A G upstream_gene_variant PACA-CA 14 51453821 51453821 single base substitution A T intron_variant PACA-CA 14 51453821 51453821 single base substitution A T upstream_gene_variant PACA-CA 14 51454950 51454950 single base substitution T A intron_variant PACA-CA 14 51454950 51454950 single base substitution T A upstream_gene_variant PACA-CA 14 51457044 51457044 single base substitution C T intron_variant PACA-CA 14 51457044 51457044 single base substitution C T upstream_gene_variant PACA-CA 14 51462182 51462182 single base substitution G A downstream_gene_variant PACA-CA 14 51462182 51462182 single base substitution G A intron_variant PACA-CA 14 51462452 51462452 single base substitution G C downstream_gene_variant PACA-CA 14 51462452 51462452 single base substitution G C intron_variant PACA-CA 14 51462466 51462466 single base substitution C T downstream_gene_variant PACA-CA 14 51462466 51462466 single base substitution C T intron_variant PACA-CA 14 51462655 51462655 single base substitution C A downstream_gene_variant PACA-CA 14 51462655 51462655 single base substitution C A intron_variant PACA-CA 14 51465531 51465531 single base substitution G T intron_variant PACA-CA 14 51467494 51467494 single base substitution G A synonymous_variant S453S 1359C>T PACA-CA 14 51467494 51467494 single base substitution G A synonymous_variant S457S 1371C>T PACA-CA 14 51470357 51470370 deletion of <=200bp AAAAGGATAAAAAA - intron_variant PACA-CA 14 51471366 51471366 single base substitution T A intron_variant PACA-CA 14 51472702 51472702 single base substitution C T intron_variant PACA-CA 14 51474772 51474772 single base substitution C A intron_variant PACA-CA 14 51475470 51475470 single base substitution A G intron_variant PACA-CA 14 51475872 51475872 single base substitution G A missense_variant T411M 1232C>T PACA-CA 14 51477976 51477976 single base substitution T C intron_variant PACA-CA 14 51481030 51481030 single base substitution G A intron_variant PACA-CA 14 51486725 51486725 single base substitution T C intron_variant PACA-CA 14 51491029 51491029 single base substitution C A intron_variant PACA-CA 14 51499363 51499363 single base substitution G A intron_variant PACA-CA 14 51500161 51500161 single base substitution G A intron_variant PACA-CA 14 51500316 51500316 single base substitution C A intron_variant PACA-CA 14 51503920 51503920 single base substitution C T intron_variant PACA-CA 14 51506613 51506613 single base substitution C T intron_variant PACA-CA 14 51506631 51506631 insertion of <=200bp - T intron_variant PACA-CA 14 51510344 51510344 single base substitution G A intron_variant PACA-CA 14 51510345 51510345 single base substitution A T intron_variant PACA-CA 14 51514343 51514343 insertion of <=200bp - T intron_variant PACA-CA 14 51514755 51514755 deletion of <=200bp T - intron_variant PACA-CA 14 51517960 51517960 deletion of <=200bp T - intron_variant PACA-CA 14 51518820 51518820 single base substitution G A intron_variant PACA-CA 14 51522374 51522374 single base substitution A C intron_variant PACA-CA 14 51523973 51523973 single base substitution T C intron_variant PACA-CA 14 51525376 51525376 single base substitution G C intron_variant PACA-CA 14 51525777 51525777 single base substitution T G intron_variant PACA-CA 14 51533062 51533062 single base substitution A G intron_variant PACA-CA 14 51533509 51533509 single base substitution G A intron_variant PACA-CA 14 51536250 51536250 single base substitution T C intron_variant PACA-CA 14 51537777 51537777 single base substitution C T intron_variant PACA-CA 14 51538994 51538994 deletion of <=200bp A - intron_variant PACA-CA 14 51541712 51541712 single base substitution A C intron_variant PACA-CA 14 51541819 51541819 single base substitution C A intron_variant PACA-CA 14 51549568 51549568 single base substitution A G intron_variant PACA-CA 14 51552476 51552476 single base substitution T G intron_variant PACA-CA 14 51557118 51557118 single base substitution T G intron_variant PACA-CA 14 51559599 51559599 single base substitution C T intron_variant PACA-CA 14 51564389 51564389 single base substitution G T upstream_gene_variant PACA-CA 14 51565076 51565076 single base substitution A T upstream_gene_variant PACA-CA 14 51565855 51565855 deletion of <=200bp A - upstream_gene_variant PAEN-AU 14 51443827 51443827 single base substitution G A 3_prime_UTR_variant PAEN-AU 14 51443827 51443827 single base substitution G A downstream_gene_variant PAEN-AU 14 51488427 51488427 single base substitution A T intron_variant PAEN-AU 14 51519443 51519443 single base substitution G A intron_variant PAEN-IT 14 51508239 51508239 single base substitution A C intron_variant PAEN-IT 14 51545287 51545287 single base substitution A G intron_variant PBCA-DE 14 51461404 51461404 single base substitution A G downstream_gene_variant PBCA-DE 14 51461404 51461404 single base substitution A G intron_variant PBCA-DE 14 51500106 51500106 single base substitution G A intron_variant PBCA-DE 14 51505458 51505458 single base substitution C A intron_variant PBCA-DE 14 51513286 51513286 deletion of <=200bp G - intron_variant PBCA-DE 14 51520464 51520464 single base substitution G C intron_variant PBCA-DE 14 51527191 51527191 insertion of <=200bp - T intron_variant PBCA-DE 14 51543194 51543194 single base substitution G A intron_variant PBCA-DE 14 51544635 51544635 single base substitution C A intron_variant PBCA-DE 14 51546945 51546945 insertion of <=200bp - A intron_variant PBCA-DE 14 51557323 51557323 insertion of <=200bp - T intron_variant PBCA-DE 14 51561232 51561232 single base substitution G A synonymous_variant L142L 426C>T PBCA-DE 14 51561601 51561601 single base substitution C T synonymous_variant E19E 57G>A PBCA-DE 14 51567116 51567116 single base substitution C A upstream_gene_variant PRAD-CA 14 51468040 51468040 single base substitution C T intron_variant PRAD-CA 14 51469019 51469019 single base substitution C T intron_variant PRAD-CA 14 51496667 51496667 single base substitution A G intron_variant PRAD-CA 14 51505764 51505764 single base substitution A C intron_variant PRAD-CA 14 51539116 51539116 single base substitution A G intron_variant PRAD-CA 14 51543194 51543194 single base substitution G A intron_variant PRAD-UK 14 51438873 51438873 single base substitution G A downstream_gene_variant PRAD-UK 14 51443951 51443951 single base substitution G T 3_prime_UTR_variant PRAD-UK 14 51443951 51443951 single base substitution G T downstream_gene_variant PRAD-UK 14 51448428 51448428 single base substitution G A downstream_gene_variant PRAD-UK 14 51448428 51448428 single base substitution G A intron_variant PRAD-UK 14 51448723 51448723 single base substitution C T downstream_gene_variant PRAD-UK 14 51448723 51448723 single base substitution C T exon_variant PRAD-UK 14 51448723 51448723 single base substitution C T missense_variant V568M 1702G>A PRAD-UK 14 51448723 51448723 single base substitution C T missense_variant V649M 1945G>A PRAD-UK 14 51448889 51448889 single base substitution C A downstream_gene_variant PRAD-UK 14 51448889 51448889 single base substitution C A exon_variant PRAD-UK 14 51448889 51448889 single base substitution C A intron_variant PRAD-UK 14 51449324 51449324 single base substitution C T downstream_gene_variant PRAD-UK 14 51449324 51449324 single base substitution C T intron_variant PRAD-UK 14 51449324 51449324 single base substitution C T upstream_gene_variant PRAD-UK 14 51449736 51449736 single base substitution G A intron_variant PRAD-UK 14 51449736 51449736 single base substitution G A upstream_gene_variant PRAD-UK 14 51465827 51465827 single base substitution T C intron_variant PRAD-UK 14 51468243 51468243 single base substitution G A intron_variant PRAD-UK 14 51469532 51469547 deletion of <=200bp AAACCATGTCTGAGCT - intron_variant PRAD-UK 14 51479040 51479040 single base substitution C G intron_variant PRAD-UK 14 51482312 51482312 single base substitution G A intron_variant PRAD-UK 14 51487793 51487793 single base substitution A T intron_variant PRAD-UK 14 51494746 51494746 single base substitution A G intron_variant PRAD-UK 14 51497895 51497895 insertion of <=200bp - AAAG intron_variant PRAD-UK 14 51505679 51505679 single base substitution A G intron_variant PRAD-UK 14 51522834 51522834 single base substitution C T intron_variant PRAD-UK 14 51523338 51523338 single base substitution G T intron_variant PRAD-UK 14 51530650 51530650 single base substitution A G intron_variant PRAD-UK 14 51531879 51531879 single base substitution T C intron_variant PRAD-UK 14 51537974 51537974 single base substitution A G intron_variant PRAD-UK 14 51546584 51546584 single base substitution C A intron_variant PRAD-UK 14 51547509 51547509 single base substitution G A intron_variant PRAD-UK 14 51548814 51548814 single base substitution T G intron_variant PRAD-US 14 51446111 51446111 single base substitution G A downstream_gene_variant PRAD-US 14 51446111 51446111 single base substitution G A synonymous_variant N688N 2064C>T PRAD-US 14 51446111 51446111 single base substitution G A synonymous_variant N769N 2307C>T PRAD-US 14 51489667 51489667 single base substitution A C missense_variant S309R 927T>G READ-US 14 51446160 51446160 single base substitution A C downstream_gene_variant READ-US 14 51446160 51446160 single base substitution A C missense_variant F672C 2015T>G READ-US 14 51446160 51446160 single base substitution A C missense_variant F753C 2258T>G READ-US 14 51448627 51448627 single base substitution G A downstream_gene_variant READ-US 14 51448627 51448627 single base substitution G A exon_variant READ-US 14 51448627 51448627 single base substitution G A missense_variant R600C 1798C>T READ-US 14 51448627 51448627 single base substitution G A missense_variant R681C 2041C>T RECA-EU 14 51439358 51439358 single base substitution G C downstream_gene_variant RECA-EU 14 51459135 51459135 single base substitution A G downstream_gene_variant RECA-EU 14 51459135 51459135 single base substitution A G intron_variant RECA-EU 14 51459135 51459135 single base substitution A G upstream_gene_variant RECA-EU 14 51461674 51461674 single base substitution A C downstream_gene_variant RECA-EU 14 51461674 51461674 single base substitution A C intron_variant RECA-EU 14 51466186 51466186 single base substitution T A intron_variant RECA-EU 14 51466187 51466187 single base substitution C G intron_variant RECA-EU 14 51473942 51473942 single base substitution T C intron_variant RECA-EU 14 51482719 51482719 single base substitution T A intron_variant RECA-EU 14 51482874 51482874 single base substitution C A intron_variant RECA-EU 14 51484314 51484314 single base substitution T C intron_variant RECA-EU 14 51484384 51484384 single base substitution G A intron_variant RECA-EU 14 51485381 51485381 single base substitution C G intron_variant RECA-EU 14 51501759 51501759 single base substitution G A intron_variant RECA-EU 14 51519966 51519966 single base substitution T C intron_variant RECA-EU 14 51547069 51547069 single base substitution A T intron_variant RECA-EU 14 51554920 51554920 single base substitution T A intron_variant RECA-EU 14 51558315 51558315 single base substitution T A intron_variant SKCA-BR 14 51437017 51437017 single base substitution C T downstream_gene_variant SKCA-BR 14 51441312 51441312 single base substitution T G downstream_gene_variant SKCA-BR 14 51441748 51441748 single base substitution C T downstream_gene_variant SKCA-BR 14 51442021 51442021 single base substitution G T 3_prime_UTR_variant SKCA-BR 14 51442021 51442021 single base substitution G T downstream_gene_variant SKCA-BR 14 51442084 51442084 single base substitution T C 3_prime_UTR_variant SKCA-BR 14 51442084 51442084 single base substitution T C downstream_gene_variant SKCA-BR 14 51445876 51445876 single base substitution C T 3_prime_UTR_variant SKCA-BR 14 51445876 51445876 single base substitution C T downstream_gene_variant SKCA-BR 14 51445876 51445876 single base substitution C T intron_variant SKCA-BR 14 51446326 51446326 single base substitution C T downstream_gene_variant SKCA-BR 14 51446326 51446326 single base substitution C T intron_variant SKCA-BR 14 51447806 51447806 single base substitution G A downstream_gene_variant SKCA-BR 14 51447806 51447806 single base substitution G A intron_variant SKCA-BR 14 51448122 51448122 single base substitution A T downstream_gene_variant SKCA-BR 14 51448122 51448122 single base substitution A T intron_variant SKCA-BR 14 51449207 51449207 single base substitution G A downstream_gene_variant SKCA-BR 14 51449207 51449207 single base substitution G A intron_variant SKCA-BR 14 51449207 51449207 single base substitution G A upstream_gene_variant SKCA-BR 14 51450249 51450249 single base substitution C T intron_variant SKCA-BR 14 51450249 51450249 single base substitution C T upstream_gene_variant SKCA-BR 14 51450484 51450484 single base substitution A T intron_variant SKCA-BR 14 51450484 51450484 single base substitution A T upstream_gene_variant SKCA-BR 14 51450562 51450562 single base substitution A G intron_variant SKCA-BR 14 51450562 51450562 single base substitution A G upstream_gene_variant SKCA-BR 14 51453136 51453137 deletion of <=200bp TA - exon_variant SKCA-BR 14 51453136 51453137 deletion of <=200bp TA - intron_variant SKCA-BR 14 51453136 51453137 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 14 51455881 51455881 single base substitution G A intron_variant SKCA-BR 14 51455881 51455881 single base substitution G A upstream_gene_variant SKCA-BR 14 51456473 51456473 single base substitution G A intron_variant SKCA-BR 14 51456473 51456473 single base substitution G A upstream_gene_variant SKCA-BR 14 51458596 51458596 single base substitution G A downstream_gene_variant SKCA-BR 14 51458596 51458596 single base substitution G A intron_variant SKCA-BR 14 51458596 51458596 single base substitution G A upstream_gene_variant SKCA-BR 14 51460527 51460527 single base substitution G A downstream_gene_variant SKCA-BR 14 51460527 51460527 single base substitution G A intron_variant SKCA-BR 14 51463876 51463876 single base substitution A C 3_prime_UTR_variant SKCA-BR 14 51463876 51463876 single base substitution A C intron_variant SKCA-BR 14 51463922 51463922 single base substitution T G 3_prime_UTR_variant SKCA-BR 14 51463922 51463922 single base substitution T G intron_variant SKCA-BR 14 51463923 51463923 single base substitution T C 3_prime_UTR_variant SKCA-BR 14 51463923 51463923 single base substitution T C intron_variant SKCA-BR 14 51474842 51474842 single base substitution G A intron_variant SKCA-BR 14 51479604 51479604 single base substitution A T intron_variant SKCA-BR 14 51480949 51480949 single base substitution G A intron_variant SKCA-BR 14 51481130 51481130 single base substitution C T intron_variant SKCA-BR 14 51481455 51481455 single base substitution C T intron_variant SKCA-BR 14 51482223 51482227 deletion of <=200bp CTTTT - intron_variant SKCA-BR 14 51483953 51483953 single base substitution C T intron_variant SKCA-BR 14 51490209 51490209 single base substitution G A intron_variant SKCA-BR 14 51490239 51490239 single base substitution T C intron_variant SKCA-BR 14 51496317 51496317 single base substitution A C intron_variant SKCA-BR 14 51497990 51497991 deletion of <=200bp AG - intron_variant SKCA-BR 14 51497992 51497992 single base substitution A C intron_variant SKCA-BR 14 51500242 51500242 single base substitution C T intron_variant SKCA-BR 14 51505545 51505545 single base substitution G A intron_variant SKCA-BR 14 51508762 51508762 single base substitution G A intron_variant SKCA-BR 14 51509681 51509681 single base substitution T C intron_variant SKCA-BR 14 51511541 51511541 single base substitution A C intron_variant SKCA-BR 14 51512431 51512431 single base substitution G A intron_variant SKCA-BR 14 51515463 51515463 single base substitution A G intron_variant SKCA-BR 14 51515498 51515498 single base substitution C T intron_variant SKCA-BR 14 51518785 51518785 single base substitution G A intron_variant SKCA-BR 14 51520293 51520293 insertion of <=200bp - ATT intron_variant SKCA-BR 14 51520311 51520311 insertion of <=200bp - TA intron_variant SKCA-BR 14 51520313 51520314 deletion of <=200bp AT - intron_variant SKCA-BR 14 51521053 51521053 single base substitution C T intron_variant SKCA-BR 14 51521572 51521572 single base substitution G A intron_variant SKCA-BR 14 51526055 51526055 single base substitution C T intron_variant SKCA-BR 14 51526198 51526198 insertion of <=200bp - AAAAAC intron_variant SKCA-BR 14 51529822 51529822 single base substitution G A intron_variant SKCA-BR 14 51530112 51530112 single base substitution G A intron_variant SKCA-BR 14 51531777 51531777 single base substitution C T intron_variant SKCA-BR 14 51532234 51532234 single base substitution G A intron_variant SKCA-BR 14 51535850 51535850 single base substitution G A intron_variant SKCA-BR 14 51536225 51536225 single base substitution G A intron_variant SKCA-BR 14 51537417 51537417 single base substitution G T intron_variant SKCA-BR 14 51539429 51539429 single base substitution G A intron_variant SKCA-BR 14 51540989 51540989 single base substitution G A intron_variant SKCA-BR 14 51541658 51541658 single base substitution G A intron_variant SKCA-BR 14 51544334 51544334 single base substitution T A intron_variant SKCA-BR 14 51545009 51545009 single base substitution G A intron_variant SKCA-BR 14 51546810 51546810 single base substitution C T intron_variant SKCA-BR 14 51547345 51547345 single base substitution G A intron_variant SKCA-BR 14 51548160 51548160 single base substitution C T intron_variant SKCA-BR 14 51549602 51549602 single base substitution T G intron_variant SKCA-BR 14 51549647 51549647 single base substitution A G intron_variant SKCA-BR 14 51550148 51550148 insertion of <=200bp - AT intron_variant SKCA-BR 14 51551418 51551418 single base substitution C T intron_variant SKCA-BR 14 51551857 51551857 single base substitution A G intron_variant SKCA-BR 14 51551862 51551862 single base substitution T G intron_variant SKCA-BR 14 51552832 51552832 single base substitution C T intron_variant SKCA-BR 14 51553478 51553478 single base substitution G A intron_variant SKCA-BR 14 51554373 51554373 single base substitution A C intron_variant SKCA-BR 14 51556746 51556746 single base substitution C T intron_variant SKCA-BR 14 51557019 51557019 single base substitution C T intron_variant SKCA-BR 14 51559558 51559558 single base substitution G A intron_variant SKCA-BR 14 51564704 51564704 single base substitution C T upstream_gene_variant SKCA-BR 14 51566776 51566776 single base substitution T C upstream_gene_variant SKCA-BR 14 51567523 51567523 single base substitution G A upstream_gene_variant SKCA-BR 14 51567641 51567641 single base substitution G A upstream_gene_variant SKCA-BR 14 51567767 51567767 single base substitution T A upstream_gene_variant SKCM-US 14 51446146 51446146 single base substitution C T downstream_gene_variant SKCM-US 14 51446146 51446146 single base substitution C T missense_variant G677S 2029G>A SKCM-US 14 51446146 51446146 single base substitution C T missense_variant G758S 2272G>A SKCM-US 14 51446170 51446170 single base substitution G A downstream_gene_variant SKCM-US 14 51446170 51446170 single base substitution G A missense_variant P669S 2005C>T SKCM-US 14 51446170 51446170 single base substitution G A missense_variant P750S 2248C>T SKCM-US 14 51446206 51446206 single base substitution T G downstream_gene_variant SKCM-US 14 51446206 51446206 single base substitution T G missense_variant N657H 1969A>C SKCM-US 14 51446206 51446206 single base substitution T G missense_variant N738H 2212A>C SKCM-US 14 51446212 51446212 single base substitution T C downstream_gene_variant SKCM-US 14 51446212 51446212 single base substitution T C missense_variant R655G 1963A>G SKCM-US 14 51446212 51446212 single base substitution T C missense_variant R736G 2206A>G SKCM-US 14 51446259 51446259 single base substitution C T downstream_gene_variant SKCM-US 14 51446259 51446259 single base substitution C T exon_variant SKCM-US 14 51446259 51446259 single base substitution C T missense_variant G639E 1916G>A SKCM-US 14 51446259 51446259 single base substitution C T missense_variant G720E 2159G>A SKCM-US 14 51448530 51448530 single base substitution G A downstream_gene_variant SKCM-US 14 51448530 51448530 single base substitution G A exon_variant SKCM-US 14 51448530 51448530 single base substitution G A missense_variant S632L 1895C>T SKCM-US 14 51448530 51448530 single base substitution G A missense_variant S713L 2138C>T SKCM-US 14 51448794 51448794 single base substitution G A downstream_gene_variant SKCM-US 14 51448794 51448794 single base substitution G A exon_variant SKCM-US 14 51448794 51448794 single base substitution G A missense_variant S544L 1631C>T SKCM-US 14 51448794 51448794 single base substitution G A missense_variant S625L 1874C>T SKCM-US 14 51464813 51464813 single base substitution C T missense_variant G516R 1546G>A SKCM-US 14 51464813 51464813 single base substitution C T missense_variant G520R 1558G>A SKCM-US 14 51467457 51467457 single base substitution C T missense_variant V466M 1396G>A SKCM-US 14 51467457 51467457 single base substitution C T missense_variant V470M 1408G>A SKCM-US 14 51467517 51467517 single base substitution C T missense_variant E446K 1336G>A SKCM-US 14 51467517 51467517 single base substitution C T missense_variant E450K 1348G>A SKCM-US 14 51475933 51475933 single base substitution T C missense_variant R391G 1171A>G SKCM-US 14 51477128 51477128 single base substitution C T missense_variant E376K 1126G>A SKCM-US 14 51492019 51492019 single base substitution A C missense_variant F294L 882T>G SKCM-US 14 51492053 51492053 single base substitution C T missense_variant G283E 848G>A SKCM-US 14 51560982 51560982 single base substitution C T missense_variant V226I 676G>A STAD-US 14 51444057 51444057 single base substitution G A downstream_gene_variant STAD-US 14 51444057 51444057 single base substitution G A synonymous_variant T695T 2085C>T STAD-US 14 51446192 51446192 deletion of <=200bp A - downstream_gene_variant STAD-US 14 51446192 51446192 deletion of <=200bp A - frameshift_variant F661 STAD-US 14 51446192 51446192 deletion of <=200bp A - frameshift_variant F742 STAD-US 14 51448575 51448575 single base substitution G A downstream_gene_variant STAD-US 14 51448575 51448575 single base substitution G A exon_variant STAD-US 14 51448575 51448575 single base substitution G A missense_variant A617V 1850C>T STAD-US 14 51448575 51448575 single base substitution G A missense_variant A698V 2093C>T STAD-US 14 51448802 51448802 single base substitution G C downstream_gene_variant STAD-US 14 51448802 51448802 single base substitution G C exon_variant STAD-US 14 51448802 51448802 single base substitution G C missense_variant D541E 1623C>G STAD-US 14 51448802 51448802 single base substitution G C missense_variant D622E 1866C>G STAD-US 14 51467458 51467458 single base substitution C T synonymous_variant T465T 1395G>A STAD-US 14 51467458 51467458 single base substitution C T synonymous_variant T469T 1407G>A STAD-US 14 51467459 51467459 single base substitution G A missense_variant T465M 1394C>T STAD-US 14 51467459 51467459 single base substitution G A missense_variant T469M 1406C>T STAD-US 14 51467488 51467488 single base substitution C T synonymous_variant T455T 1365G>A STAD-US 14 51467488 51467488 single base substitution C T synonymous_variant T459T 1377G>A STAD-US 14 51467557 51467557 single base substitution A C intron_variant STAD-US 14 51467557 51467557 single base substitution A C splice_region_variant STAD-US 14 51475949 51475949 single base substitution A C missense_variant I385M 1155T>G STAD-US 14 51477173 51477173 single base substitution G A missense_variant R361C 1081C>T STAD-US 14 51560869 51560869 single base substitution G A synonymous_variant V263V 789C>T STAD-US 14 51560960 51560960 single base substitution T C missense_variant E233G 698A>G STAD-US 14 51561035 51561035 single base substitution C T missense_variant R208H 623G>A STAD-US 14 51561062 51561062 single base substitution G A missense_variant P199L 596C>T STAD-US 14 51561103 51561103 single base substitution G A synonymous_variant C185C 555C>T STAD-US 14 51561212 51561212 single base substitution C T missense_variant R149H 446G>A STAD-US 14 51561225 51561225 single base substitution A G missense_variant F145L 433T>C STAD-US 14 51561231 51561231 single base substitution G A missense_variant R143C 427C>T STAD-US 14 51561331 51561331 single base substitution C T synonymous_variant P109P 327G>A STAD-US 14 51561366 51561366 single base substitution C T missense_variant G98S 292G>A STAD-US 14 51561482 51561482 single base substitution T G missense_variant D59A 176A>C STAD-US 14 51561483 51561483 single base substitution C T missense_variant D59N 175G>A STAD-US 14 51561493 51561493 single base substitution G A synonymous_variant S55S 165C>T STAD-US 14 51561501 51561501 single base substitution C T missense_variant A53T 157G>A STAD-US 14 51561516 51561516 deletion of <=200bp G - frameshift_variant Q48 STAD-US 14 51561624 51561624 single base substitution C T missense_variant V12M 34G>A UCEC-US 14 51444042 51444042 single base substitution G A downstream_gene_variant UCEC-US 14 51444042 51444042 single base substitution G A synonymous_variant P700P 2100C>T UCEC-US 14 51446043 51446043 single base substitution C T downstream_gene_variant UCEC-US 14 51446043 51446043 single base substitution C T intron_variant UCEC-US 14 51446043 51446043 single base substitution C T missense_variant R792K 2375G>A UCEC-US 14 51446186 51446186 single base substitution G A downstream_gene_variant UCEC-US 14 51446186 51446186 single base substitution G A synonymous_variant N663N 1989C>T UCEC-US 14 51446186 51446186 single base substitution G A synonymous_variant N744N 2232C>T UCEC-US 14 51448589 51448589 single base substitution G A downstream_gene_variant UCEC-US 14 51448589 51448589 single base substitution G A exon_variant UCEC-US 14 51448589 51448589 single base substitution G A synonymous_variant D612D 1836C>T UCEC-US 14 51448589 51448589 single base substitution G A synonymous_variant D693D 2079C>T UCEC-US 14 51448666 51448666 single base substitution G A downstream_gene_variant UCEC-US 14 51448666 51448666 single base substitution G A exon_variant UCEC-US 14 51448666 51448666 single base substitution G A missense_variant R587C 1759C>T UCEC-US 14 51448666 51448666 single base substitution G A missense_variant R668C 2002C>T UCEC-US 14 51448776 51448776 single base substitution A T downstream_gene_variant UCEC-US 14 51448776 51448776 single base substitution A T exon_variant UCEC-US 14 51448776 51448776 single base substitution A T missense_variant I550N 1649T>A UCEC-US 14 51448776 51448776 single base substitution A T missense_variant I631N 1892T>A UCEC-US 14 51467451 51467451 single base substitution C T missense_variant A468T 1402G>A UCEC-US 14 51467451 51467451 single base substitution C T missense_variant A472T 1414G>A UCEC-US 14 51467459 51467459 single base substitution G A missense_variant T465M 1394C>T UCEC-US 14 51467459 51467459 single base substitution G A missense_variant T469M 1406C>T UCEC-US 14 51467494 51467494 single base substitution G A synonymous_variant S453S 1359C>T UCEC-US 14 51467494 51467494 single base substitution G A synonymous_variant S457S 1371C>T UCEC-US 14 51475871 51475871 single base substitution C T synonymous_variant T411T 1233G>A UCEC-US 14 51475876 51475876 single base substitution T C missense_variant T410A 1228A>G UCEC-US 14 51477173 51477173 single base substitution G A missense_variant R361C 1081C>T UCEC-US 14 51489583 51489583 single base substitution G A synonymous_variant R337R 1011C>T UCEC-US 14 51560935 51560935 single base substitution G A synonymous_variant C241C 723C>T UCEC-US 14 51561052 51561052 single base substitution C T synonymous_variant G202G 606G>A UCEC-US 14 51561057 51561057 single base substitution G A missense_variant R201W 601C>T UCEC-US 14 51561076 51561076 single base substitution G A synonymous_variant R194R 582C>T UCEC-US 14 51561083 51561083 single base substitution G A missense_variant P192L 575C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A0LD-01 COSM956141 c.582C>T p.R194R Substitution - coding silent 14:51094358-51094358 - 07-058 COSM3736112 c.1959A>C p.L653F Substitution - Missense 14:50979498-50979498 - 66 COSM5743654 c.320C>T p.P107L Substitution - Missense 14:51094620-51094620 - ESCC_125 COSM5641092 c.1483G>C p.E495Q Substitution - Missense 14:50998170-50998170 - LP6007398-DNA_A01 COSM5951731 c.1569G>A p.P523P Substitution - coding silent 14:50998084-50998084 - TCGA-D5-6928-01 COSM3690110 c.446G>A p.R149H Substitution - Missense 14:51094494-51094494 - TCGA-CG-5733-01 COSM4051204 c.176A>C p.D59A Substitution - Missense 14:51094764-51094764 - TCGA-B6-A0IQ-01 COSM433115 c.2110T>A p.S704T Substitution - Missense 14:50977314-50977314 - Pat_06_B COSM5848165 c.1390C>T p.Q464* Substitution - Nonsense 14:51000757-51000757 - OSCC-GB_00130111 COSM3711499 c.1456C>A p.Q486K Substitution - Missense 14:51000691-51000691 - B85-0 COSM1748877 c.503G>A p.C168Y Substitution - Missense 14:51094437-51094437 - LU-2349 COSM5614136 c.1082G>C p.R361P Substitution - Missense 14:51010454-51010454 - PD14471a COSM5770760 c.1119G>A p.V373V Substitution - coding silent 14:51010417-51010417 - TCGA-EE-A2GR-06 COSM3496307 c.882T>G p.F294L Substitution - Missense 14:51025301-51025301 - sysucc-1317T COSM338994 c.1406C>T p.T469M Substitution - Missense 14:51000741-51000741 - TCGA-AC-A2QI-01 COSM3814895 c.1315C>T p.P439S Substitution - Missense 14:51000832-51000832 - TCGA-BR-8381-01 COSM4051186 c.623G>A p.R208H Substitution - Missense 14:51094317-51094317 - RK070_C01 COSM3744368 c.1357A>T p.T453S Substitution - Missense 14:51000790-51000790 - PCSI0047 COSM1158529 c.1896G>A p.S632S Substitution - coding silent 14:50981811-50981811 - 034T COSM1728528 c.1055A>T p.Q352L Substitution - Missense 14:51010481-51010481 - T3498 COSM4051169 c.1407G>A p.T469T Substitution - coding silent 14:51000740-51000740 - 278-01-4TD COSM5418849 c.335A>G p.H112R Substitution - Missense 14:51094605-51094605 - SNU-175 COSM2199184 c.269C>T p.T90I Substitution - Missense 14:51094671-51094671 - PT35 COSM5913625 c.1460T>G p.F487C Substitution - Missense 14:51000687-51000687 - STC252 COSM956131 c.1011C>T p.R337R Substitution - coding silent 14:51022865-51022865 - TCGA-BH-A209-01 COSM1477614 c.711C>T p.H237H Substitution - coding silent 14:51094229-51094229 - TCGA-BR-4361-01 COSM4051216 c.34G>A p.V12M Substitution - Missense 14:51094906-51094906 - TCGA-D1-A167-01 COSM338994 c.1406C>T p.T469M Substitution - Missense 14:51000741-51000741 - TCGA-AX-A06L-01 COSM956119 c.1649T>A p.I550N Substitution - Missense 14:50982058-50982058 - TCGA-HU-A4GQ-01 COSM4051189 c.596C>T p.P199L Substitution - Missense 14:51094344-51094344 - TCGA-EE-A2GO-06 COSM3496288 c.2029G>A p.G677S Substitution - Missense 14:50979428-50979428 - TCGA-G4-6320-01 COSM190891 c.328G>A p.A110T Substitution - Missense 14:51094612-51094612 - ESO-081 COSM1243699 c.586C>T p.R196C Substitution - Missense 14:51094354-51094354 - ESO-007 COSM1268583 c.100G>A p.A34T Substitution - Missense 14:51094840-51094840 - TCGA-EE-A29S-06 COSM3496302 c.1171A>G p.R391G Substitution - Missense 14:51009215-51009215 - B109 COSM1748880 c.453G>A p.L151L Substitution - coding silent 14:51094487-51094487 - PCSI_0230_Pa_P_526 COSM4966048 c.1232C>T p.T411M Substitution - Missense 14:51009154-51009154 - S00943 COSM316171 c.1957T>C p.L653L Substitution - coding silent 14:50979500-50979500 - ESO-037 COSM1268585 c.957A>G p.Q319Q Substitution - coding silent 14:51022919-51022919 - TCGA-D1-A17Q-01 COSM956127 c.1228A>G p.T410A Substitution - Missense 14:51009158-51009158 - TCGA-D7-6525-01 COSM1268591 c.427C>T p.R143C Substitution - Missense 14:51094513-51094513 - TCGA-B5-A11G-01 COSM956135 c.723C>T p.C241C Substitution - coding silent 14:51094217-51094217 - BN24 COSM956112 c.2100C>T p.P700P Substitution - coding silent 14:50977324-50977324 - TCGA-B5-A0JY-01 COSM956143 c.575C>T p.P192L Substitution - Missense 14:51094365-51094365 - TCGA-AG-A02N-01 COSM290620 c.652A>C p.S218R Substitution - Missense 14:51094288-51094288 - TCGA-33-4582-01 COSM698415 c.1912G>T p.E638* Substitution - Nonsense 14:50979545-50979545 - PT36 COSM5916396 c.1463G>A p.R488Q Substitution - Missense 14:51000684-51000684 - HN_00443 COSM129911 c.896G>A p.R299H Substitution - Missense 14:51025287-51025287 - TCGA-BR-4184-01 COSM4051192 c.555C>T p.C185C Substitution - coding silent 14:51094385-51094385 - PCSI_0047_Pa_P_526 COSM1158529 c.1896G>A p.S632S Substitution - coding silent 14:50981811-50981811 - PCSI_0047_Pa_P COSM1158529 c.1896G>A p.S632S Substitution - coding silent 14:50981811-50981811 - 13T COSM3711499 c.1456C>A p.Q486K Substitution - Missense 14:51000691-51000691 - TCGA-B5-A0K1-01 COSM956139 c.601C>T p.R201W Substitution - Missense 14:51094339-51094339 - TCGA-BQ-5882-01 COSM3987671 c.1196A>G p.Q399R Substitution - Missense 14:51009190-51009190 - HCC2998 COSM2199131 c.1239T>C p.F413F Substitution - coding silent 14:51009147-51009147 - HCC127 COSM3706309 c.1975A>G p.T659A Substitution - Missense 14:50979482-50979482 - ESO-H01 COSM1268591 c.427C>T p.R143C Substitution - Missense 14:51094513-51094513 - TCGA-C5-A1MJ-01 COSM4842783 c.1956C>A p.D652E Substitution - Missense 14:50979501-50979501 - S01366 COSM316173 c.1411C>G p.P471A Substitution - Missense 14:51000736-51000736 - TCGA-BR-7707-01 COSM4051210 c.165C>T p.S55S Substitution - coding silent 14:51094775-51094775 - 2_PRE-TREATMENT COSM190865 c.1307C>T p.A436V Substitution - Missense 14:51000840-51000840 - TCGA-BS-A0TE-01 COSM956123 c.1371C>T p.S457S Substitution - coding silent 14:51000776-51000776 - TCGA-D5-6928-01 COSM1370056 c.1796C>T p.A599V Substitution - Missense 14:50981911-50981911 - 12T COSM106568 c.1126G>A p.E376K Substitution - Missense 14:51010410-51010410 - BD135T COSM5516665 c.1012G>A p.V338I Substitution - Missense 14:51022864-51022864 - ESCC-235T COSM956129 c.1081C>T p.R361C Substitution - Missense 14:51010455-51010455 - ACINAR28 COSM1734779 c.631C>T p.P211S Substitution - Missense 14:51094309-51094309 - TCGA-BR-4184-01 COSM4051165 c.1850C>T p.A617V Substitution - Missense 14:50981857-50981857 - T3024 COSM4736255 c.448G>A p.V150I Substitution - Missense 14:51094492-51094492 - 391 COSM3723977 c.1372G>A p.A458T Substitution - Missense 14:51000775-51000775 - 855_CLM COSM5754592 c.723C>A p.C241* Substitution - Nonsense 14:51094217-51094217 - T3080 COSM4736248 c.2119G>T p.A707S Substitution - Missense 14:50977305-50977305 - CHC892T COSM4796653 c.2060G>A p.R687K Substitution - Missense 14:50979397-50979397 - KPOPBR-03-T COSM5965269 c.2T>C p.M1T Substitution - Missense 14:51094938-51094938 - TCGA-BR-4267-01 COSM4051167 c.1623C>G p.D541E Substitution - Missense 14:50982084-50982084 - PA285 COSM1163060 c.1740C>T p.Y580Y Substitution - coding silent 14:50981967-50981967 - TCGA-D3-A3MR-06 COSM3496292 c.1916G>A p.G639E Substitution - Missense 14:50979541-50979541 - 587376 COSM1230424 c.839C>T p.A280V Substitution - Missense 14:51025344-51025344 - 587332 COSM1230422 c.941C>T p.A314V Substitution - Missense 14:51022935-51022935 - HCC127T COSM3706309 c.1975A>G p.T659A Substitution - Missense 14:50979482-50979482 - TCGA-AP-A0LM-01 COSM956117 c.1759C>T p.R587C Substitution - Missense 14:50981948-50981948 - MOLT-4 COSM1677981 c.1790G>A p.G597D Substitution - Missense 14:50981917-50981917 - TCGA-B7-5816-01 COSM4051164 c.2085C>T p.T695T Substitution - coding silent 14:50977339-50977339 - LUAD-F00018 COSM338994 c.1406C>T p.T469M Substitution - Missense 14:51000741-51000741 - T3174 COSM4736261 c.306delT p.P104fs*51 Deletion - Frameshift 14:51094634-51094634 - I2L-P10-Tumor-Organoid COSM5362408 c.921G>A p.E307E Substitution - coding silent 14:51022955-51022955 - TCGA-JW-A5VL-01 COSM4847482 c.1049G>C p.R350P Substitution - Missense 14:51010487-51010487 - TCGA-BR-4363-01 COSM338994 c.1406C>T p.T469M Substitution - Missense 14:51000741-51000741 - 500 COSM5611816 c.137C>A p.S46Y Substitution - Missense 14:51094803-51094803 - NCI-H1437 COSM24045 c.1816G>C p.D606H Substitution - Missense 14:50981891-50981891 - TCGA-RP-A695-06 COSM4896650 c.848G>A p.G283E Substitution - Missense 14:51025335-51025335 - TCGA-HU-A4H8-01 COSM956129 c.1081C>T p.R361C Substitution - Missense 14:51010455-51010455 - BN20T COSM1607724 c.624C>A p.R208R Substitution - coding silent 14:51094316-51094316 - 530 COSM3723975 c.1693G>A p.D565N Substitution - Missense 14:50982014-50982014 - TCGA-FW-A3R5-06 COSM3496296 c.1558G>A p.G520R Substitution - Missense 14:50998095-50998095 - TCGA-FW-A3R5-06 COSM1370052 c.1895C>T p.S632L Substitution - Missense 14:50981812-50981812 - TCGA-FW-A3R5-06 COSM3886098 c.2005C>T p.P669S Substitution - Missense 14:50979452-50979452 - TCGA-EE-A182-06 COSM3496299 c.1408G>A p.V470M Substitution - Missense 14:51000739-51000739 - SNUH_G16_S1 COSM3736112 c.1959A>C p.L653F Substitution - Missense 14:50979498-50979498 - OSCC-GB_00730111 COSM4888943 c.514G>T p.E172* Substitution - Nonsense 14:51094426-51094426 - PCSI_0038_Pa_X COSM3377417 c.210A>G p.L70L Substitution - coding silent 14:51094730-51094730 - CSCC-11-T COSM4451440 c.121A>G p.T41A Substitution - Missense 14:51094819-51094819 - CHC892T COSM4246274 c.600C>T p.P200P Substitution - coding silent 14:51094340-51094340 - TCGA-BR-4184-01 COSM4051180 c.789C>T p.V263V Substitution - coding silent 14:51094151-51094151 - TCGA-HU-A4H8-01 COSM4051169 c.1407G>A p.T469T Substitution - coding silent 14:51000740-51000740 - TCGA-A6-5661-01 COSM1370067 c.70C>G p.P24A Substitution - Missense 14:51094870-51094870 - RK119_C01 COSM3744371 c.220G>A p.A74T Substitution - Missense 14:51094720-51094720 - CSCC-31-T COSM4468786 c.1563C>A p.V521V Substitution - coding silent 14:50998090-50998090 - TCGA-D3-A1Q1-06 COSM3496290 c.1963A>G p.R655G Substitution - Missense 14:50979494-50979494 - TCGA-HU-A4H8-01 COSM4051213 c.157G>A p.A53T Substitution - Missense 14:51094783-51094783 - LUAD_E00522 COSM352529 c.1009C>A p.R337S Substitution - Missense 14:51022867-51022867 - HT115 COSM2199160 c.646C>T p.R216C Substitution - Missense 14:51094294-51094294 - TCGA-D5-6533-01 COSM1370061 c.702G>A p.L234L Substitution - coding silent 14:51094238-51094238 - TCGA-EE-A3J5-06 COSM3886100 c.1348G>A p.E450K Substitution - Missense 14:51000799-51000799 - CAL27 COSM2199190 c.91C>G p.Q31E Substitution - Missense 14:51094849-51094849 - TCGA-EJ-5527-01 COSM1128250 c.2064C>T p.N688N Substitution - coding silent 14:50979393-50979393 - ATL026 COSM956129 c.1081C>T p.R361C Substitution - Missense 14:51010455-51010455 - TCGA-BS-A0UV-01 COSM956113 c.1989C>T p.N663N Substitution - coding silent 14:50979468-50979468 - TCGA-EE-A2MK-06 COSM3496310 c.676G>A p.V226I Substitution - Missense 14:51094264-51094264 - CHC1708T COSM4952431 c.862G>A p.A288T Substitution - Missense 14:51025321-51025321 - ESCC-175T COSM3936540 c.1961A>G p.N654S Substitution - Missense 14:50979496-50979496 - TCGA-AP-A059-01 COSM956115 c.1836C>T p.D612D Substitution - coding silent 14:50981871-50981871 - TCGA-IR-A3LA-01 COSM4845790 c.1425C>A p.Y475* Substitution - Nonsense 14:51000722-51000722 - TCGA-C8-A12P-01 COSM433116 c.1872G>C p.R624R Substitution - coding silent 14:50981835-50981835 - BD57T COSM5510695 c.822+2T>C p.? Unknown 14:51094116-51094116 - T17 COSM5342455 c.1272A>G p.Q424Q Substitution - coding silent 14:51009114-51009114 - TCGA-C5-A2M2-01 COSM4837710 c.529G>A p.E177K Substitution - Missense 14:51094411-51094411 - NCI-H727 COSM2199140 c.1010G>T p.R337L Substitution - Missense 14:51022866-51022866 - TCGA-21-5786-01 COSM698417 c.1989C>A p.N663K Substitution - Missense 14:50979468-50979468 - MPCC_0038_Pa_C COSM1158529 c.1896G>A p.S632S Substitution - coding silent 14:50981811-50981811 - TCGA-21-5787-01 COSM698419 c.2041C>A p.P681T Substitution - Missense 14:50979416-50979416 - CHC892T COSM4246274 c.600C>T p.P200P Substitution - coding silent 14:51094340-51094340 - TCGA-FS-A1YY-06 COSM3496296 c.1558G>A p.G520R Substitution - Missense 14:50998095-50998095 - MZ7-mel COSM24048 c.829C>T p.L277F Substitution - Missense 14:51025354-51025354 - TCGA-EK-A3GN-01 COSM4854639 c.1365C>T p.N455N Substitution - coding silent 14:51000782-51000782 - TCGA-AP-A0LM-01 COSM956112 c.2100C>T p.P700P Substitution - coding silent 14:50977324-50977324 - B5-Tumor COSM1268591 c.427C>T p.R143C Substitution - Missense 14:51094513-51094513 - TCGA-AN-A046-01 COSM3814893 c.1990G>A p.D664N Substitution - Missense 14:50979467-50979467 - TCGA-BR-8487-01 COSM4051195 c.433T>C p.F145L Substitution - Missense 14:51094507-51094507 - 2_RESISTANT COSM190865 c.1307C>T p.A436V Substitution - Missense 14:51000840-51000840 - 66 COSM5743651 c.1157C>T p.S386F Substitution - Missense 14:51009229-51009229 - TCGA-EE-A2GC-06 COSM3496294 c.1631C>T p.S544L Substitution - Missense 14:50982076-50982076 - TCGA-HC-8262-01 COSM4392619 c.927T>G p.S309R Substitution - Missense 14:51022949-51022949 - CHC892T COSM4796653 c.2060G>A p.R687K Substitution - Missense 14:50979397-50979397 - TCGA-34-5232-01 COSM698413 c.1372G>T p.A458S Substitution - Missense 14:51000775-51000775 - 1192-01-02TD COSM5417280 c.2066T>C p.V689A Substitution - Missense 14:50979391-50979391 - TCGA-AF-6136-01 COSM3814893 c.1990G>A p.D664N Substitution - Missense 14:50979467-50979467 - TCGA-CK-5916-01 COSM3690104 c.1417G>A p.D473N Substitution - Missense 14:51000730-51000730 - TCGA-D7-6820-01 COSM4051172 c.1377G>A p.T459T Substitution - coding silent 14:51000770-51000770 - TCGA-DK-A1A7-01 COSM416672 c.656G>A p.R219Q Substitution - Missense 14:51094284-51094284 - YUPROST COSM1707341 c.1877G>A p.W626* Substitution - Nonsense 14:50981830-50981830 - TCGA-AP-A051-01 COSM956125 c.1233G>A p.T411T Substitution - coding silent 14:51009153-51009153 - PT37 COSM5920754 c.1207G>A p.G403S Substitution - Missense 14:51009179-51009179 - NCI-H322M COSM1677979 c.1949T>C p.L650P Substitution - Missense 14:50979508-50979508 - TCGA-Q1-A73O-01 COSM4835681 c.1399C>G p.L467V Substitution - Missense 14:51000748-51000748 - pfg009T COSM1640103 c.1675A>G p.T559A Substitution - Missense 14:50982032-50982032 - sysucc-1240T COSM1370052 c.1895C>T p.S632L Substitution - Missense 14:50981812-50981812 - TCGA-BR-8487-01 COSM4051183 c.698A>G p.E233G Substitution - Missense 14:51094242-51094242 - TCGA-BR-8680-01 COSM4051177 c.1155T>G p.I385M Substitution - Missense 14:51009231-51009231 - TCGA-G4-6628-01 COSM3690107 c.666C>T p.S222S Substitution - coding silent 14:51094274-51094274 - T3152 COSM4736258 c.429C>T p.R143R Substitution - coding silent 14:51094511-51094511 - B5 COSM1268591 c.427C>T p.R143C Substitution - Missense 14:51094513-51094513 - T2949 COSM4736252 c.918G>T p.Q306H Substitution - Missense 14:51025265-51025265 - TCGA-HW-7491-01 COSM3968832 c.1780C>G p.P594A Substitution - Missense 14:50981927-50981927 - TCGA-D1-A16Y-01 COSM956121 c.1414G>A p.A472T Substitution - Missense 14:51000733-51000733 - ESCC_17 COSM5625903 c.1479G>A p.G493G Substitution - coding silent 14:50998174-50998174 - TCGA-AA-3693-01 COSM293347 c.1634C>T p.A545V Substitution - Missense 14:50982073-50982073 - LUAD-RT-S01852 COSM384893 c.343C>A p.P115T Substitution - Missense 14:51094597-51094597 - LUAD-F00365 COSM340414 c.1812G>C p.M604I Substitution - Missense 14:50981895-50981895 - B85-0-Tumor COSM1748877 c.503G>A p.C168Y Substitution - Missense 14:51094437-51094437 - TCGA-AZ-4615-01 COSM5139656 c.802delG p.A268fs*14 Deletion - Frameshift 14:51094138-51094138 - PD14465a COSM3690110 c.446G>A p.R149H Substitution - Missense 14:51094494-51094494 - TCGA-JX-A3Q0-01 COSM4823920 c.52C>T p.R18W Substitution - Missense 14:51094888-51094888 - Pat_24_A COSM5848164 c.2101G>A p.D701N Substitution - Missense 14:50977323-50977323 - DU-145 COSM1677983 c.1729G>T p.G577C Substitution - Missense 14:50981978-50981978 - pfg212T COSM4747230 c.635delC p.P212fs*6 Deletion - Frameshift 14:51094305-51094305 - ATL033 COSM5705731 c.919-2A>C p.? Unknown 14:51022959-51022959 - TCGA-AZ-4315-01 COSM956123 c.1371C>T p.S457S Substitution - coding silent 14:51000776-51000776 - TCGA-D9-A6EC-06 COSM4405740 c.1969A>C p.N657H Substitution - Missense 14:50979488-50979488 - TCGA-A5-A0VP-01 COSM956131 c.1011C>T p.R337R Substitution - coding silent 14:51022865-51022865 - TCGA-D5-6932-01 COSM1370059 c.1199G>A p.W400* Substitution - Nonsense 14:51009187-51009187 - TCGA-HT-7688-01 COSM3968830 c.1965A>G p.R655R Substitution - coding silent 14:50979492-50979492 - ESO-152 COSM1268587 c.1664A>G p.N555S Substitution - Missense 14:50982043-50982043 - TCGA-CM-6674-01 COSM1370052 c.1895C>T p.S632L Substitution - Missense 14:50981812-50981812 - P51 COSM328710 c.1121T>A p.I374N Substitution - Missense 14:51010415-51010415 - CHC1708T COSM4952431 c.862G>A p.A288T Substitution - Missense 14:51025321-51025321 - TCGA-CW-5581-01 COSM470010 c.1294G>A p.V432M Substitution - Missense 14:51009092-51009092 - T1 COSM5342458 c.492G>A p.A164A Substitution - coding silent 14:51094448-51094448 - TCGA-BR-8382-01 COSM3690110 c.446G>A p.R149H Substitution - Missense 14:51094494-51094494 - TCGA-AP-A056-01 COSM956129 c.1081C>T p.R361C Substitution - Missense 14:51010455-51010455 - SNUH_G76_S1 COSM4418710 c.1959A>T p.L653F Substitution - Missense 14:50979498-50979498 - TCGA-A2-A4S3-01 COSM3814898 c.300C>T p.R100R Substitution - coding silent 14:51094640-51094640 - TCGA-EI-6917-01 COSM3419867 c.1798C>T p.R600C Substitution - Missense 14:50981909-50981909 - ccRCC-14 COSM1664696 c.1631C>G p.S544W Substitution - Missense 14:50982076-50982076 - TCGA-FP-A4BE-01 COSM4051201 c.292G>A p.G98S Substitution - Missense 14:51094648-51094648 - T3187 COSM4736267 c.113T>C p.L38P Substitution - Missense 14:51094827-51094827 - TCGA-AA-A010-01 COSM285961 c.1676C>T p.T559I Substitution - Missense 14:50982031-50982031 - LS411 COSM4646484 c.325C>T p.P109S Substitution - Missense 14:51094615-51094615 - LIM1215 COSM4246271 c.727C>T p.Q243* Substitution - Nonsense 14:51094213-51094213 - 381 COSM4426421 c.520G>A p.A174T Substitution - Missense 14:51094420-51094420 - PD11358a COSM5786274 c.2074A>T p.T692S Substitution - Missense 14:50977350-50977350 - SH-0622 COSM5018378 c.264delC p.T89fs*66 Deletion - Frameshift 14:51094676-51094676 - TCGA-BR-4257-01 COSM4051207 c.175G>A p.D59N Substitution - Missense 14:51094765-51094765 - BN24T COSM956112 c.2100C>T p.P700P Substitution - coding silent 14:50977324-50977324 - PCSI_0020_Pa_X COSM956123 c.1371C>T p.S457S Substitution - coding silent 14:51000776-51000776 - B109-Tumor COSM1748880 c.453G>A p.L151L Substitution - coding silent 14:51094487-51094487 - BN20 COSM1607724 c.624C>A p.R208R Substitution - coding silent 14:51094316-51094316 - ESO-2472 COSM1268589 c.576G>A p.P192P Substitution - coding silent 14:51094364-51094364 - TCGA-AP-A051-01 COSM956129 c.1081C>T p.R361C Substitution - Missense 14:51010455-51010455 - TCGA-D5-6538-01 COSM1370051 c.2106C>T p.F702F Substitution - coding silent 14:50977318-50977318 - ATL219 COSM5705728 c.1282C>G p.Q428E Substitution - Missense 14:51009104-51009104 - LUAD-S01413 COSM347031 c.1414G>T p.A472S Substitution - Missense 14:51000733-51000733 - TCGA-A5-A0GH-01 COSM956133 c.784G>A p.E262K Substitution - Missense 14:51094156-51094156 - S01366 COSM316173 c.1411C>G p.P471A Substitution - Missense 14:51000736-51000736 - Pat_41_B COSM5848168 c.895C>T p.R299C Substitution - Missense 14:51025288-51025288 - TCGA-AP-A056-01 COSM956137 c.606G>A p.G202G Substitution - coding silent 14:51094334-51094334 - T3021 COSM4736264 c.228C>T p.S76S Substitution - coding silent 14:51094712-51094712 - TCGA-GC-A3I6-01 COSM1300653 c.454G>A p.E152K Substitution - Missense 14:51094486-51094486 - HCT8 COSM4633907 c.1701G>T p.V567V Substitution - coding silent 14:50982006-50982006 - TCGA-B8-5546-01 COSM129911 c.896G>A p.R299H Substitution - Missense 14:51025287-51025287 - TCGA-D7-A4Z0-01 COSM4051175 c.1308T>G p.A436A Substitution - coding silent 14:51000839-51000839 - TCGA-CG-5730-01 COSM4051198 c.327G>A p.P109P Substitution - coding silent 14:51094613-51094613 - TCGA-EE-A183-06 COSM106568 c.1126G>A p.E376K Substitution - Missense 14:51010410-51010410 - TCGA-F5-6814-01 COSM3419865 c.2015T>G p.F672C Substitution - Missense 14:50979442-50979442 - LP6005690-DNA_A02 COSM4410280 c.1881C>A p.F627L Substitution - Missense 14:50981826-50981826 - T578 COSM4736249 c.1157C>A p.S386Y Substitution - Missense 14:51009229-51009229 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654746;Hs.654750 14q22.1 606555

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F294L c.882T>G 14 51492019 CM A C Missense p.S309R c.927T>G 14 51489667 PRAD A G Synonymous p.L653L c.1957T>C 14 51446218 SCLC A T Missense p.I550N c.1649T>A 14 51448776 UCEC A T Missense p.S704T c.2110T>A 14 51444032 BRCA C A 3-UTRSNV . c.2130+130G>T 14 51443882 HC C A IntronicSNV . c.1603+702G>T 14 51464066 HC C A IntronicSNV . c.823-3801G>T 14 51495879 CLL C A Missense p.A458S c.1372G>T 14 51467493 LUSC C A Missense p.V689L c.2065G>T 14 51446110 LUAD C A Nonsense p.E638* c.1912G>T 14 51446263 LUSC C G IntronicSNV . c.1603+3168G>C 14 51461600 PIA C G IntronicSNV . c.2070+83G>C 14 51446022 BRCA C G Missense p.R361P c.1082G>C 14 51477172 NSCLC C G Synonymous p.R624R c.1872G>C 14 51448553 BRCA C T IntronicSNV . c.2070+53G>A 14 51446052 CM C T Missense p.A34T c.100G>A 14 51561558 ESCA C T Missense p.A472T c.1414G>A 14 51467451 UCEC C T Missense p.D59N c.175G>A 14 51561483 STAD C T Missense p.E152K c.454G>A 14 51561204 BLCA C T Missense p.E376K c.1126G>A 14 51477128 CM C T Missense p.E450K c.1348G>A 14 51467517 CM C T Missense p.G520R c.1558G>A 14 51464813 CM C T Missense p.G639E c.1916G>A 14 51446259 CM C T Missense p.G677S c.2029G>A 14 51446146 CM C T Missense p.R219Q c.656G>A 14 51561002 BLCA C T Missense p.R299H c.896G>A 14 51492005 HNSC C T Missense p.R329K c.986G>A 14 51489608 STAD C T Missense p.V226I c.676G>A 14 51560982 CM C T Missense p.V470M c.1408G>A 14 51467457 CM C T Missense p.V568M c.1702G>A 14 51448723 CM C T Synonymous p.P109P c.327G>A 14 51561331 STAD C T Synonymous p.P192P c.576G>A 14 51561082 ESCA C T Synonymous p.Q93Q c.279G>A 14 51561379 LUAD C T Synonymous p.T459T c.1377G>A 14 51467488 STAD G A Missense p.A545V c.1634C>T 14 51448791 COREAD G A Missense p.P439S c.1315C>T 14 51467550 CM G A Missense p.P523L c.1568C>T 14 51464803 CM G A Missense p.R143C c.427C>T 14 51561231 ESCA G A Missense p.R143C c.427C>T 14 51561231 STAD G A Missense p.R201W c.601C>T 14 51561057 UCEC G A Missense p.S544L c.1631C>T 14 51448794 CM G A Missense p.T469M c.1406C>T 14 51467459 STAD G A Nonsense p.Q159* c.475C>T 14 51561183 HNSC G A Synonymous p.C241C c.723C>T 14 51560935 UCEC G A Synonymous p.G677G c.2031C>T 14 51446144 LUAD G A Synonymous p.H237H c.711C>T 14 51560947 BRCA G A Synonymous p.L528L c.1582C>T 14 51464789 HNSC G A Synonymous p.N688N c.2064C>T 14 51446111 PRAD G A Synonymous p.R194R c.582C>T 14 51561076 UCEC G A Synonymous p.R337R c.1011C>T 14 51489583 UCEC G A Synonymous p.S457S c.1371C>T 14 51467494 UCEC G C Missense p.D541E c.1623C>G 14 51448802 STAD G C Missense p.P471A c.1411C>G 14 51467454 SCLC G C Missense p.P594A c.1780C>G 14 51448645 LGG G T Missense p.F431L c.1293C>A 14 51475811 LUAD G T Missense p.N663K c.1989C>A 14 51446186 LUSC G T Missense p.P681T c.2041C>A 14 51446134 LUSC G T Missense p.R337S c.1009C>A 14 51489585 LUAD G T Synonymous p.I324I c.972C>A 14 51489622 LUAD G T Synonymous p.P47P c.141C>A 14 51561517 LUAD T C 5-UTRSNV . c.1-705A>G 14 51562362 HC T C Missense p.N555S c.1664A>G 14 51448761 ESCA T C Missense p.R391G c.1171A>G 14 51475933 CM T C Missense p.R655G c.1963A>G 14 51446212 CM T C Missense p.T559A c.1675A>G 14 51448750 STAD T C Synonymous p.Q319Q c.957A>G 14 51489637 ESCA T C Synonymous p.R655R c.1965A>G 14 51446210 LGG T G Missense p.D59A c.176A>C 14 51561482 STAD