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 16 84806251 84806251 + Missense_Mutation SNP C C G TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr16:84806251C>G c.2103C>G c.(2101-2103)atC>atG p.I701M BLCA 16 84778274 84778274 + Missense_Mutation SNP G G A TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr16:84778274G>A c.187G>A c.(187-189)Gaa>Aaa p.E63K BLCA 16 84778354 84778354 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr16:84778354A>G c.267A>G c.(265-267)gaA>gaG p.E89E BLCA 16 84778493 84778493 + Missense_Mutation SNP G G C TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr16:84778493G>C c.406G>C c.(406-408)Gaa>Caa p.E136Q BLCA 16 84778635 84778635 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr16:84778635C>T c.548C>T c.(547-549)tCa>tTa p.S183L BLCA 16 84778898 84778898 + Missense_Mutation SNP C C G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr16:84778898C>G c.811C>G c.(811-813)Cag>Gag p.Q271E BLCA 16 84778970 84778970 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr16:84778970G>A c.883G>A c.(883-885)Gag>Aag p.E295K BLCA 16 84792992 84792992 + Silent SNP C C T TCGA-G2-AA3F-01A-12D-A42E-08 TCGA-G2-AA3F-10A-01D-A42H-08 g.chr16:84792992C>T c.1308C>T c.(1306-1308)tgC>tgT p.C436C BLCA 16 84793807 84793807 + Missense_Mutation SNP C C T TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chr16:84793807C>T c.1480C>T c.(1480-1482)Cgc>Tgc p.R494C BRCA 16 84778300 84778300 + Missense_Mutation SNP G G T TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 g.chr16:84778300G>T c.213G>T c.(211-213)ttG>ttT p.L71F BRCA 16 84779261 84779261 + Missense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 g.chr16:84779261G>T c.1174G>T c.(1174-1176)Gta>Tta p.V392L CESC 16 84778704 84778704 + Missense_Mutation SNP C C T TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 g.chr16:84778704C>T c.617C>T c.(616-618)cCc>cTc p.P206L CESC 16 84793794 84793794 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr16:84793794C>T c.1467C>T c.(1465-1467)atC>atT p.I489I CESC 16 84808824 84808824 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr16:84808824C>G c.2202C>G c.(2200-2202)ctC>ctG p.L734L COAD 16 84778553 84778553 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:84778553C>T c.466C>T c.(466-468)Cca>Tca p.P156S COAD 16 84792373 84792373 + Missense_Mutation SNP G G A TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr16:84792373G>A c.1244G>A c.(1243-1245)cGt>cAt p.R415H COAD 16 84792971 84792971 + Silent SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:84792971A>G c.1287A>G c.(1285-1287)acA>acG p.T429T COAD 16 84793547 84793547 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:84793547G>T c.1445G>T c.(1444-1446)cGa>cTa p.R482L COAD 16 84793794 84793794 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:84793794C>T c.1467C>T c.(1465-1467)atC>atT p.I489I COAD 16 84801888 84801888 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:84801888G>A c.1922G>A c.(1921-1923)cGc>cAc p.R641H COAD 16 84801894 84801894 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr16:84801894T>C c.1928T>C c.(1927-1929)gTc>gCc p.V643A COAD 16 84801926 84801926 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr16:84801926G>T c.1960G>T c.(1960-1962)Gaa>Taa p.E654* COAD 16 84806210 84806210 + Nonsense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr16:84806210C>T c.2062C>T c.(2062-2064)Cga>Tga p.R688* COAD 16 84806268 84806268 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:84806268C>A c.2120C>A c.(2119-2121)cCt>cAt p.P707H COAD 16 84808811 84808811 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr16:84808811G>A c.2189G>A c.(2188-2190)cGa>cAa p.R730Q COAD 16 84812561 84812561 + Missense_Mutation SNP T T A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr16:84812561T>A c.2270T>A c.(2269-2271)aTc>aAc p.I757N COAD 16 84812659 84812659 + Silent SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr16:84812659C>T c.2368C>T c.(2368-2370)Ctg>Ttg p.L790L COADREAD 16 84778270 84778270 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:84778270C>T c.183C>T c.(181-183)gtC>gtT p.V61V COADREAD 16 84778553 84778553 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:84778553C>T c.466C>T c.(466-468)Cca>Tca p.P156S COADREAD 16 84792373 84792373 + Missense_Mutation SNP G G A TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr16:84792373G>A c.1244G>A c.(1243-1245)cGt>cAt p.R415H COADREAD 16 84792971 84792971 + Silent SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:84792971A>G c.1287A>G c.(1285-1287)acA>acG p.T429T COADREAD 16 84793547 84793547 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:84793547G>T c.1445G>T c.(1444-1446)cGa>cTa p.R482L COADREAD 16 84793794 84793794 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:84793794C>T c.1467C>T c.(1465-1467)atC>atT p.I489I COADREAD 16 84801888 84801888 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:84801888G>A c.1922G>A c.(1921-1923)cGc>cAc p.R641H COADREAD 16 84801894 84801894 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr16:84801894T>C c.1928T>C c.(1927-1929)gTc>gCc p.V643A COADREAD 16 84801926 84801926 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr16:84801926G>T c.1960G>T c.(1960-1962)Gaa>Taa p.E654* COADREAD 16 84806210 84806210 + Nonsense_Mutation SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr16:84806210C>T c.2062C>T c.(2062-2064)Cga>Tga p.R688* COADREAD 16 84806210 84806210 + Nonsense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr16:84806210C>T c.2062C>T c.(2062-2064)Cga>Tga p.R688* COADREAD 16 84806268 84806268 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:84806268C>A c.2120C>A c.(2119-2121)cCt>cAt p.P707H COADREAD 16 84808811 84808811 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr16:84808811G>A c.2189G>A c.(2188-2190)cGa>cAa p.R730Q COADREAD 16 84812561 84812561 + Missense_Mutation SNP T T A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr16:84812561T>A c.2270T>A c.(2269-2271)aTc>aAc p.I757N COADREAD 16 84812659 84812659 + Silent SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr16:84812659C>T c.2368C>T c.(2368-2370)Ctg>Ttg p.L790L DLBC 16 84778261 84778261 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr16:84778261G>A c.174G>A c.(172-174)gaG>gaA p.E58E ESCA 16 84778244 84778244 + Nonsense_Mutation SNP G G T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr16:84778244G>T c.157G>T c.(157-159)Gaa>Taa p.E53* ESCA 16 84779188 84779188 + Silent SNP C C T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr16:84779188C>T c.1101C>T c.(1099-1101)ccC>ccT p.P367P ESCA 16 84793868 84793868 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 g.chr16:84793868G>T c.1541G>T c.(1540-1542)aGc>aTc p.S514I ESCA 16 84797822 84797822 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr16:84797822G>A c.1785G>A c.(1783-1785)gcG>gcA p.A595A GBM 16 84812553 84812553 + Silent SNP C C A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 g.chr16:84812553C>A c.2262C>A c.(2260-2262)gtC>gtA p.V754V GBMLGG 16 84778248 84778248 + Missense_Mutation SNP A A G TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr16:84778248A>G c.161A>G c.(160-162)tAt>tGt p.Y54C GBMLGG 16 84778569 84778569 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:84778569G>T c.482G>T c.(481-483)aGc>aTc p.S161I GBMLGG 16 84779110 84779110 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:84779110C>A c.1023C>A c.(1021-1023)tcC>tcA p.S341S GBMLGG 16 84812553 84812553 + Silent SNP C C A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 g.chr16:84812553C>A c.2262C>A c.(2260-2262)gtC>gtA p.V754V HNSC 16 84793532 84793532 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chr16:84793532T>G c.1430T>G c.(1429-1431)gTa>gGa p.V477G HNSC 16 84806160 84806160 + Missense_Mutation SNP G G A TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chr16:84806160G>A c.2012G>A c.(2011-2013)cGa>cAa p.R671Q HNSC 16 84806171 84806171 + Missense_Mutation SNP C C G TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr16:84806171C>G c.2023C>G c.(2023-2025)Ctg>Gtg p.L675V HNSC 16 84806196 84806196 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:84806196T>C c.2048T>C c.(2047-2049)gTg>gCg p.V683A HNSC 16 84808830 84808830 + Splice_Site SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr16:84808830A>T c.2208A>T c.(2206-2208)gcA>gcT p.A736A KICH 16 84778426 84778426 + Silent SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr16:84778426C>T c.339C>T c.(337-339)atC>atT p.I113I KICH 16 84793019 84793019 + Missense_Mutation SNP C C A TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr16:84793019C>A c.1335C>A c.(1333-1335)ttC>ttA p.F445L KICH 16 84797726 84797726 + Silent SNP G G A TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr16:84797726G>A c.1689G>A c.(1687-1689)tcG>tcA p.S563S KIPAN 16 84773939 84773939 + Missense_Mutation SNP C C G TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr16:84773939C>G c.115C>G c.(115-117)Ctg>Gtg p.L39V KIPAN 16 84778426 84778426 + Silent SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr16:84778426C>T c.339C>T c.(337-339)atC>atT p.I113I KIPAN 16 84778731 84778731 + Missense_Mutation SNP C C T TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr16:84778731C>T c.644C>T c.(643-645)tCc>tTc p.S215F KIPAN 16 84793019 84793019 + Missense_Mutation SNP C C A TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr16:84793019C>A c.1335C>A c.(1333-1335)ttC>ttA p.F445L KIPAN 16 84796615 84796615 + Silent SNP G G A TCGA-2K-A9WE-01A-11D-A382-10 TCGA-2K-A9WE-10A-01D-A385-10 g.chr16:84796615G>A c.1575G>A c.(1573-1575)gaG>gaA p.E525E KIPAN 16 84797726 84797726 + Silent SNP G G A TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr16:84797726G>A c.1689G>A c.(1687-1689)tcG>tcA p.S563S KIRC 16 84773939 84773939 + Missense_Mutation SNP C C G TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr16:84773939C>G c.115C>G c.(115-117)Ctg>Gtg p.L39V KIRP 16 84778731 84778731 + Missense_Mutation SNP C C T TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr16:84778731C>T c.644C>T c.(643-645)tCc>tTc p.S215F KIRP 16 84796615 84796615 + Silent SNP G G A TCGA-2K-A9WE-01A-11D-A382-10 TCGA-2K-A9WE-10A-01D-A385-10 g.chr16:84796615G>A c.1575G>A c.(1573-1575)gaG>gaA p.E525E LAML 16 84779243 84779243 + Frame_Shift_Del DEL C C - TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 g.chr16:84779243delC c.1156delC c.(1156-1158)ccgfs p.P386fs LGG 16 84778248 84778248 + Missense_Mutation SNP A A G TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr16:84778248A>G c.161A>G c.(160-162)tAt>tGt p.Y54C LGG 16 84778569 84778569 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:84778569G>T c.482G>T c.(481-483)aGc>aTc p.S161I LGG 16 84779110 84779110 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:84779110C>A c.1023C>A c.(1021-1023)tcC>tcA p.S341S LIHC 16 84778402 84778402 + Silent SNP T T C TCGA-5R-AAAM-01A-12D-A40R-10 TCGA-5R-AAAM-10A-01D-A40U-10 g.chr16:84778402T>C c.315T>C c.(313-315)acT>acC p.T105T LIHC 16 84779047 84779047 + Silent SNP A A G TCGA-DD-AADL-01A-11D-A40R-10 TCGA-DD-AADL-10A-01D-A40U-10 g.chr16:84779047A>G c.960A>G c.(958-960)gcA>gcG p.A320A LUAD 16 84778607 84778607 + Missense_Mutation SNP G G A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr16:84778607G>A c.520G>A c.(520-522)Gaa>Aaa p.E174K LUAD 16 84778661 84778661 + Nonsense_Mutation SNP G G T TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr16:84778661G>T c.574G>T c.(574-576)Gag>Tag p.E192* LUAD 16 84778796 84778796 + Missense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 g.chr16:84778796A>T c.709A>T c.(709-711)Agg>Tgg p.R237W LUAD 16 84779061 84779061 + Missense_Mutation SNP A A G TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr16:84779061A>G c.974A>G c.(973-975)gAc>gGc p.D325G LUSC 16 84778370 84778370 + Missense_Mutation SNP A A G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr16:84778370A>G c.283A>G c.(283-285)Aca>Gca p.T95A PAAD 16 84793046 84793046 + Silent SNP G G A TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr16:84793046G>A c.1362G>A c.(1360-1362)agG>agA p.R454R PAAD 16 84806216 84806216 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 g.chr16:84806216G>A c.2068G>A c.(2068-2070)Gtt>Att p.V690I PRAD 16 84778363 84778363 + Silent SNP C C T TCGA-HC-A8D1-01A-11D-A364-08 TCGA-HC-A8D1-10A-01D-A362-08 g.chr16:84778363C>T c.276C>T c.(274-276)ctC>ctT p.L92L PRAD 16 84793526 84793526 + Missense_Mutation SNP T T C TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 g.chr16:84793526T>C c.1424T>C c.(1423-1425)aTg>aCg p.M475T READ 16 84778270 84778270 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:84778270C>T c.183C>T c.(181-183)gtC>gtT p.V61V READ 16 84806210 84806210 + Nonsense_Mutation SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr16:84806210C>T c.2062C>T c.(2062-2064)Cga>Tga p.R688* SARC 16 84801916 84801916 + Missense_Mutation SNP G G C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 g.chr16:84801916G>C c.1950G>C c.(1948-1950)ttG>ttC p.L650F SKCM 16 84767063 84767063 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr16:84767063C>T c.44C>T c.(43-45)cCt>cTt p.P15L SKCM 16 84778340 84778340 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:84778340C>T c.253C>T c.(253-255)Cct>Tct p.P85S SKCM 16 84778389 84778389 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr16:84778389C>T c.302C>T c.(301-303)cCt>cTt p.P101L SKCM 16 84778424 84778424 + Missense_Mutation SNP A A T TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr16:84778424A>T c.337A>T c.(337-339)Atc>Ttc p.I113F SKCM 16 84778852 84778852 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr16:84778852C>T c.765C>T c.(763-765)ttC>ttT p.F255F SKCM 16 84778881 84778881 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr16:84778881C>T c.794C>T c.(793-795)tCa>tTa p.S265L SKCM 16 84792359 84792359 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr16:84792359G>A c.1230G>A c.(1228-1230)gtG>gtA p.V410V SKCM 16 84796646 84796646 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:84796646C>T c.1606C>T c.(1606-1608)Cat>Tat p.H536Y SKCM 16 84796689 84796689 + Missense_Mutation SNP A A G TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr16:84796689A>G c.1649A>G c.(1648-1650)aAt>aGt p.N550S SKCM 16 84797807 84797807 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr16:84797807C>T c.1770C>T c.(1768-1770)tcC>tcT p.S590S SKCM 16 84801964 84801964 + Splice_Site SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr16:84801964G>A c.1998G>A c.(1996-1998)gaG>gaA p.E666E SKCM 16 84806182 84806182 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr16:84806182C>T c.2034C>T c.(2032-2034)ctC>ctT p.L678L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 16 84778354 84778354 single base substitution A G 3_prime_UTR_variant BLCA-US 16 84778354 84778354 single base substitution A G downstream_gene_variant BLCA-US 16 84778354 84778354 single base substitution A G exon_variant BLCA-US 16 84778354 84778354 single base substitution A G intron_variant BLCA-US 16 84778354 84778354 single base substitution A G synonymous_variant E83E 249A>G BLCA-US 16 84778354 84778354 single base substitution A G synonymous_variant E89E 267A>G BLCA-US 16 84778354 84778354 single base substitution A G synonymous_variant E93E 279A>G BLCA-US 16 84778635 84778635 single base substitution C T 3_prime_UTR_variant BLCA-US 16 84778635 84778635 single base substitution C T downstream_gene_variant BLCA-US 16 84778635 84778635 single base substitution C T exon_variant BLCA-US 16 84778635 84778635 single base substitution C T intron_variant BLCA-US 16 84778635 84778635 single base substitution C T missense_variant S183L 548C>T BLCA-US 16 84778635 84778635 single base substitution C T missense_variant S187L 560C>T BRCA-EU 16 84728995 84728995 single base substitution G A upstream_gene_variant BRCA-EU 16 84729807 84729807 single base substitution T G upstream_gene_variant BRCA-EU 16 84732270 84732270 single base substitution C T upstream_gene_variant BRCA-EU 16 84733213 84733213 single base substitution G T upstream_gene_variant BRCA-EU 16 84734642 84734642 single base substitution A T intron_variant BRCA-EU 16 84734816 84734816 single base substitution T A intron_variant BRCA-EU 16 84734820 84734820 single base substitution G C intron_variant BRCA-EU 16 84736738 84736746 deletion of <=200bp TTGGAAACA - intron_variant BRCA-EU 16 84737997 84737997 single base substitution G C intron_variant BRCA-EU 16 84739056 84739056 single base substitution C A intron_variant BRCA-EU 16 84740470 84740470 single base substitution G C intron_variant BRCA-EU 16 84741061 84741061 single base substitution C T intron_variant BRCA-EU 16 84742290 84742291 deletion of <=200bp AC - intron_variant BRCA-EU 16 84742746 84742746 single base substitution G A exon_variant BRCA-EU 16 84742746 84742746 single base substitution G A intron_variant BRCA-EU 16 84746070 84746070 single base substitution C T downstream_gene_variant BRCA-EU 16 84746070 84746070 single base substitution C T intron_variant BRCA-EU 16 84748570 84748570 single base substitution C G intron_variant BRCA-EU 16 84749206 84749206 insertion of <=200bp - T intron_variant BRCA-EU 16 84749624 84749624 single base substitution C G intron_variant BRCA-EU 16 84749666 84749666 single base substitution C T intron_variant BRCA-EU 16 84750050 84750050 single base substitution A T exon_variant BRCA-EU 16 84750050 84750050 single base substitution A T intron_variant BRCA-EU 16 84751909 84751909 single base substitution G T intron_variant BRCA-EU 16 84751963 84751963 single base substitution G A intron_variant BRCA-EU 16 84755510 84755510 single base substitution C T intron_variant BRCA-EU 16 84756025 84756025 single base substitution C A intron_variant BRCA-EU 16 84756076 84756076 single base substitution T A intron_variant BRCA-EU 16 84756811 84756811 single base substitution C G intron_variant BRCA-EU 16 84757626 84757626 single base substitution C G intron_variant BRCA-EU 16 84757685 84757685 single base substitution C G intron_variant BRCA-EU 16 84759116 84759116 single base substitution C A intron_variant BRCA-EU 16 84759117 84759117 single base substitution C A intron_variant BRCA-EU 16 84759317 84759317 single base substitution C G intron_variant BRCA-EU 16 84759486 84759486 single base substitution G A intron_variant BRCA-EU 16 84759720 84759720 single base substitution C T intron_variant BRCA-EU 16 84759797 84759797 single base substitution C A intron_variant BRCA-EU 16 84760072 84760072 single base substitution T A intron_variant BRCA-EU 16 84760073 84760073 single base substitution C G intron_variant BRCA-EU 16 84760945 84760945 single base substitution C T intron_variant BRCA-EU 16 84761025 84761025 single base substitution T A intron_variant BRCA-EU 16 84762156 84762156 single base substitution C G intron_variant BRCA-EU 16 84762156 84762156 single base substitution C G upstream_gene_variant BRCA-EU 16 84763713 84763713 single base substitution C A intron_variant BRCA-EU 16 84763713 84763713 single base substitution C A upstream_gene_variant BRCA-EU 16 84763964 84763964 single base substitution C G intron_variant BRCA-EU 16 84763964 84763964 single base substitution C G upstream_gene_variant BRCA-EU 16 84764281 84764281 single base substitution C G intron_variant BRCA-EU 16 84764281 84764281 single base substitution C G upstream_gene_variant BRCA-EU 16 84766143 84766143 single base substitution C A exon_variant BRCA-EU 16 84766143 84766143 single base substitution C A intron_variant BRCA-EU 16 84766143 84766143 single base substitution C A upstream_gene_variant BRCA-EU 16 84766712 84766712 single base substitution G A downstream_gene_variant BRCA-EU 16 84766712 84766712 single base substitution G A intron_variant BRCA-EU 16 84766712 84766712 single base substitution G A splice_donor_variant BRCA-EU 16 84766712 84766712 single base substitution G A upstream_gene_variant BRCA-EU 16 84767170 84767170 single base substitution A G downstream_gene_variant BRCA-EU 16 84767170 84767170 single base substitution A G intron_variant BRCA-EU 16 84767520 84767520 single base substitution C G downstream_gene_variant BRCA-EU 16 84767520 84767520 single base substitution C G intron_variant BRCA-EU 16 84767704 84767704 single base substitution C T downstream_gene_variant BRCA-EU 16 84767704 84767704 single base substitution C T intron_variant BRCA-EU 16 84768481 84768481 single base substitution C A downstream_gene_variant BRCA-EU 16 84768481 84768481 single base substitution C A intron_variant BRCA-EU 16 84768636 84768636 single base substitution C G downstream_gene_variant BRCA-EU 16 84768636 84768636 single base substitution C G intron_variant BRCA-EU 16 84769079 84769079 single base substitution C A downstream_gene_variant BRCA-EU 16 84769079 84769079 single base substitution C A intron_variant BRCA-EU 16 84769342 84769342 single base substitution A T downstream_gene_variant BRCA-EU 16 84769342 84769342 single base substitution A T intron_variant BRCA-EU 16 84769549 84769549 single base substitution C T downstream_gene_variant BRCA-EU 16 84769549 84769549 single base substitution C T intron_variant BRCA-EU 16 84770094 84770094 single base substitution C G downstream_gene_variant BRCA-EU 16 84770094 84770094 single base substitution C G intron_variant BRCA-EU 16 84770184 84770184 single base substitution C G downstream_gene_variant BRCA-EU 16 84770184 84770184 single base substitution C G intron_variant BRCA-EU 16 84770425 84770425 single base substitution C T downstream_gene_variant BRCA-EU 16 84770425 84770425 single base substitution C T intron_variant BRCA-EU 16 84770517 84770517 single base substitution C A downstream_gene_variant BRCA-EU 16 84770517 84770517 single base substitution C A intron_variant BRCA-EU 16 84770910 84770910 single base substitution C T downstream_gene_variant BRCA-EU 16 84770910 84770910 single base substitution C T intron_variant BRCA-EU 16 84772584 84772584 single base substitution C T intron_variant BRCA-EU 16 84772688 84772688 insertion of <=200bp - A intron_variant BRCA-EU 16 84772693 84772693 single base substitution C G intron_variant BRCA-EU 16 84772829 84772829 single base substitution T A intron_variant BRCA-EU 16 84775540 84775540 single base substitution G A downstream_gene_variant BRCA-EU 16 84775540 84775540 single base substitution G A intron_variant BRCA-EU 16 84776041 84776041 single base substitution C G downstream_gene_variant BRCA-EU 16 84776041 84776041 single base substitution C G intron_variant BRCA-EU 16 84776923 84776923 deletion of <=200bp C - downstream_gene_variant BRCA-EU 16 84776923 84776923 deletion of <=200bp C - intron_variant BRCA-EU 16 84778952 84778952 single base substitution A C 3_prime_UTR_variant BRCA-EU 16 84778952 84778952 single base substitution A C downstream_gene_variant BRCA-EU 16 84778952 84778952 single base substitution A C intron_variant BRCA-EU 16 84778952 84778952 single base substitution A C missense_variant I289L 865A>C BRCA-EU 16 84778952 84778952 single base substitution A C missense_variant I293L 877A>C BRCA-EU 16 84781932 84781932 single base substitution G A downstream_gene_variant BRCA-EU 16 84781932 84781932 single base substitution G A intron_variant BRCA-EU 16 84782648 84782648 single base substitution A G downstream_gene_variant BRCA-EU 16 84782648 84782648 single base substitution A G intron_variant BRCA-EU 16 84784809 84784809 single base substitution C G intron_variant BRCA-EU 16 84784978 84784978 insertion of <=200bp - C intron_variant BRCA-EU 16 84785144 84785144 single base substitution G A intron_variant BRCA-EU 16 84786985 84786985 single base substitution C A intron_variant BRCA-EU 16 84787184 84787184 single base substitution A G intron_variant BRCA-EU 16 84787483 84787483 single base substitution C G intron_variant BRCA-EU 16 84789836 84789836 single base substitution C T intron_variant BRCA-EU 16 84789836 84789836 single base substitution C T upstream_gene_variant BRCA-EU 16 84792360 84792360 single base substitution T C 3_prime_UTR_variant BRCA-EU 16 84792360 84792360 single base substitution T C intron_variant BRCA-EU 16 84792360 84792360 single base substitution T C missense_variant S36P 106T>C BRCA-EU 16 84792360 84792360 single base substitution T C missense_variant S411P 1231T>C BRCA-EU 16 84792360 84792360 single base substitution T C missense_variant S415P 1243T>C BRCA-EU 16 84792360 84792360 single base substitution T C missense_variant S64P 190T>C BRCA-EU 16 84792360 84792360 single base substitution T C upstream_gene_variant BRCA-EU 16 84793195 84793195 insertion of <=200bp - T intron_variant BRCA-EU 16 84793195 84793195 insertion of <=200bp - T upstream_gene_variant BRCA-EU 16 84793202 84793202 insertion of <=200bp - A intron_variant BRCA-EU 16 84793202 84793202 insertion of <=200bp - A upstream_gene_variant BRCA-EU 16 84794330 84794330 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 84794330 84794330 deletion of <=200bp T - intron_variant BRCA-EU 16 84795325 84795325 single base substitution G C downstream_gene_variant BRCA-EU 16 84795325 84795325 single base substitution G C intron_variant BRCA-EU 16 84795670 84795670 single base substitution G T downstream_gene_variant BRCA-EU 16 84795670 84795670 single base substitution G T intron_variant BRCA-EU 16 84796735 84796735 single base substitution C T downstream_gene_variant BRCA-EU 16 84796735 84796735 single base substitution C T intron_variant BRCA-EU 16 84798940 84798940 single base substitution G A downstream_gene_variant BRCA-EU 16 84798940 84798940 single base substitution G A intron_variant BRCA-EU 16 84798940 84798940 single base substitution G A upstream_gene_variant BRCA-EU 16 84799606 84799606 single base substitution G C downstream_gene_variant BRCA-EU 16 84799606 84799606 single base substitution G C intron_variant BRCA-EU 16 84799606 84799606 single base substitution G C upstream_gene_variant BRCA-EU 16 84802252 84802252 single base substitution T C downstream_gene_variant BRCA-EU 16 84802252 84802252 single base substitution T C intron_variant BRCA-EU 16 84802572 84802572 single base substitution C G downstream_gene_variant BRCA-EU 16 84802572 84802572 single base substitution C G intron_variant BRCA-EU 16 84804988 84804988 single base substitution C T downstream_gene_variant BRCA-EU 16 84804988 84804988 single base substitution C T intron_variant BRCA-EU 16 84805243 84805243 single base substitution G A downstream_gene_variant BRCA-EU 16 84805243 84805243 single base substitution G A intron_variant BRCA-EU 16 84805848 84805848 single base substitution G A downstream_gene_variant BRCA-EU 16 84805848 84805848 single base substitution G A intron_variant BRCA-EU 16 84810842 84810842 single base substitution G A intron_variant BRCA-EU 16 84815439 84815439 single base substitution T C downstream_gene_variant BRCA-EU 16 84817740 84817740 single base substitution T C downstream_gene_variant BRCA-FR 16 84733213 84733213 single base substitution G T upstream_gene_variant BRCA-FR 16 84733223 84733223 single base substitution G T upstream_gene_variant BRCA-FR 16 84740487 84740487 single base substitution C G intron_variant BRCA-FR 16 84742746 84742746 single base substitution G A exon_variant BRCA-FR 16 84742746 84742746 single base substitution G A intron_variant BRCA-FR 16 84744245 84744245 single base substitution G A downstream_gene_variant BRCA-FR 16 84744245 84744245 single base substitution G A intron_variant BRCA-FR 16 84748544 84748544 single base substitution T A intron_variant BRCA-FR 16 84761025 84761025 single base substitution T A intron_variant BRCA-FR 16 84767704 84767704 single base substitution C T downstream_gene_variant BRCA-FR 16 84767704 84767704 single base substitution C T intron_variant BRCA-FR 16 84770727 84770727 single base substitution G C downstream_gene_variant BRCA-FR 16 84770727 84770727 single base substitution G C intron_variant BRCA-FR 16 84776330 84776330 single base substitution G A downstream_gene_variant BRCA-FR 16 84776330 84776330 single base substitution G A intron_variant BRCA-FR 16 84782486 84782486 single base substitution C T downstream_gene_variant BRCA-FR 16 84782486 84782486 single base substitution C T intron_variant BRCA-FR 16 84815262 84815262 single base substitution A G downstream_gene_variant BRCA-UK 16 84729807 84729807 single base substitution T G upstream_gene_variant BRCA-UK 16 84732270 84732270 single base substitution C T upstream_gene_variant BRCA-UK 16 84749028 84749028 single base substitution T G intron_variant BRCA-UK 16 84784984 84784984 insertion of <=200bp - C intron_variant BRCA-US 16 84778300 84778300 single base substitution G T 3_prime_UTR_variant BRCA-US 16 84778300 84778300 single base substitution G T downstream_gene_variant BRCA-US 16 84778300 84778300 single base substitution G T exon_variant BRCA-US 16 84778300 84778300 single base substitution G T intron_variant BRCA-US 16 84778300 84778300 single base substitution G T missense_variant L65F 195G>T BRCA-US 16 84778300 84778300 single base substitution G T missense_variant L71F 213G>T BRCA-US 16 84778300 84778300 single base substitution G T missense_variant L75F 225G>T BRCA-US 16 84779261 84779261 single base substitution G T 3_prime_UTR_variant BRCA-US 16 84779261 84779261 single base substitution G T downstream_gene_variant BRCA-US 16 84779261 84779261 single base substitution G T intron_variant BRCA-US 16 84779261 84779261 single base substitution G T missense_variant V17L 49G>T BRCA-US 16 84779261 84779261 single base substitution G T missense_variant V392L 1174G>T BRCA-US 16 84779261 84779261 single base substitution G T missense_variant V396L 1186G>T BTCA-JP 16 84797529 84797529 single base substitution G A downstream_gene_variant BTCA-JP 16 84797529 84797529 single base substitution G A intron_variant BTCA-JP 16 84797529 84797529 single base substitution G A upstream_gene_variant BTCA-JP 16 84806245 84806245 single base substitution G T 3_prime_UTR_variant BTCA-JP 16 84806245 84806245 single base substitution G T downstream_gene_variant BTCA-JP 16 84806245 84806245 single base substitution G T intron_variant BTCA-JP 16 84806245 84806245 single base substitution G T missense_variant K63N 189G>T BTCA-JP 16 84806245 84806245 single base substitution G T missense_variant K699N 2097G>T BTCA-JP 16 84806245 84806245 single base substitution G T missense_variant K703N 2109G>T BTCA-JP 16 84806246 84806246 single base substitution C T 3_prime_UTR_variant BTCA-JP 16 84806246 84806246 single base substitution C T downstream_gene_variant BTCA-JP 16 84806246 84806246 single base substitution C T intron_variant BTCA-JP 16 84806246 84806246 single base substitution C T missense_variant L64F 190C>T BTCA-JP 16 84806246 84806246 single base substitution C T missense_variant L700F 2098C>T BTCA-JP 16 84806246 84806246 single base substitution C T missense_variant L704F 2110C>T CESC-US 16 84778704 84778704 single base substitution C T 3_prime_UTR_variant CESC-US 16 84778704 84778704 single base substitution C T downstream_gene_variant CESC-US 16 84778704 84778704 single base substitution C T exon_variant CESC-US 16 84778704 84778704 single base substitution C T intron_variant CESC-US 16 84778704 84778704 single base substitution C T missense_variant P206L 617C>T CESC-US 16 84778704 84778704 single base substitution C T missense_variant P210L 629C>T CESC-US 16 84793794 84793794 single base substitution C T 3_prime_UTR_variant CESC-US 16 84793794 84793794 single base substitution C T exon_variant CESC-US 16 84793794 84793794 single base substitution C T intron_variant CESC-US 16 84793794 84793794 single base substitution C T synonymous_variant I114I 342C>T CESC-US 16 84793794 84793794 single base substitution C T synonymous_variant I142I 426C>T CESC-US 16 84793794 84793794 single base substitution C T synonymous_variant I489I 1467C>T CESC-US 16 84793794 84793794 single base substitution C T synonymous_variant I493I 1479C>T CESC-US 16 84808824 84808824 single base substitution C G 3_prime_UTR_variant CESC-US 16 84808824 84808824 single base substitution C G intron_variant CESC-US 16 84808824 84808824 single base substitution C G missense_variant S51C 152C>G CESC-US 16 84808824 84808824 single base substitution C G synonymous_variant L734L 2202C>G CESC-US 16 84808824 84808824 single base substitution C G synonymous_variant L738L 2214C>G CLLE-ES 16 84735069 84735069 single base substitution T G intron_variant CLLE-ES 16 84738664 84738664 single base substitution C G intron_variant CLLE-ES 16 84771615 84771615 single base substitution A G downstream_gene_variant CLLE-ES 16 84771615 84771615 single base substitution A G intron_variant COAD-US 16 84778685 84778685 single base substitution A G 3_prime_UTR_variant COAD-US 16 84778685 84778685 single base substitution A G downstream_gene_variant COAD-US 16 84778685 84778685 single base substitution A G exon_variant COAD-US 16 84778685 84778685 single base substitution A G intron_variant COAD-US 16 84778685 84778685 single base substitution A G missense_variant M200V 598A>G COAD-US 16 84778685 84778685 single base substitution A G missense_variant M204V 610A>G COAD-US 16 84778690 84778690 single base substitution C T 3_prime_UTR_variant COAD-US 16 84778690 84778690 single base substitution C T downstream_gene_variant COAD-US 16 84778690 84778690 single base substitution C T exon_variant COAD-US 16 84778690 84778690 single base substitution C T intron_variant COAD-US 16 84778690 84778690 single base substitution C T synonymous_variant P201P 603C>T COAD-US 16 84778690 84778690 single base substitution C T synonymous_variant P205P 615C>T COAD-US 16 84778697 84778697 single base substitution G C 3_prime_UTR_variant COAD-US 16 84778697 84778697 single base substitution G C downstream_gene_variant COAD-US 16 84778697 84778697 single base substitution G C exon_variant COAD-US 16 84778697 84778697 single base substitution G C intron_variant COAD-US 16 84778697 84778697 single base substitution G C missense_variant V204L 610G>C COAD-US 16 84778697 84778697 single base substitution G C missense_variant V208L 622G>C COAD-US 16 84778762 84778762 single base substitution C T 3_prime_UTR_variant COAD-US 16 84778762 84778762 single base substitution C T downstream_gene_variant COAD-US 16 84778762 84778762 single base substitution C T exon_variant COAD-US 16 84778762 84778762 single base substitution C T intron_variant COAD-US 16 84778762 84778762 single base substitution C T synonymous_variant D225D 675C>T COAD-US 16 84778762 84778762 single base substitution C T synonymous_variant D229D 687C>T COAD-US 16 84779248 84779248 single base substitution T G 3_prime_UTR_variant COAD-US 16 84779248 84779248 single base substitution T G downstream_gene_variant COAD-US 16 84779248 84779248 single base substitution T G intron_variant COAD-US 16 84779248 84779248 single base substitution T G synonymous_variant V12V 36T>G COAD-US 16 84779248 84779248 single base substitution T G synonymous_variant V387V 1161T>G COAD-US 16 84779248 84779248 single base substitution T G synonymous_variant V391V 1173T>G COAD-US 16 84793794 84793794 single base substitution C T 3_prime_UTR_variant COAD-US 16 84793794 84793794 single base substitution C T exon_variant COAD-US 16 84793794 84793794 single base substitution C T intron_variant COAD-US 16 84793794 84793794 single base substitution C T synonymous_variant I114I 342C>T COAD-US 16 84793794 84793794 single base substitution C T synonymous_variant I142I 426C>T COAD-US 16 84793794 84793794 single base substitution C T synonymous_variant I489I 1467C>T COAD-US 16 84793794 84793794 single base substitution C T synonymous_variant I493I 1479C>T COAD-US 16 84801888 84801888 single base substitution G A 3_prime_UTR_variant COAD-US 16 84801888 84801888 single base substitution G A downstream_gene_variant COAD-US 16 84801888 84801888 single base substitution G A missense_variant R5H 14G>A COAD-US 16 84801888 84801888 single base substitution G A missense_variant R641H 1922G>A COAD-US 16 84801888 84801888 single base substitution G A missense_variant R645H 1934G>A COAD-US 16 84801888 84801888 single base substitution G A missense_variant R6H 17G>A COAD-US 16 84801894 84801894 single base substitution T C 3_prime_UTR_variant COAD-US 16 84801894 84801894 single base substitution T C downstream_gene_variant COAD-US 16 84801894 84801894 single base substitution T C missense_variant V643A 1928T>C COAD-US 16 84801894 84801894 single base substitution T C missense_variant V647A 1940T>C COAD-US 16 84801894 84801894 single base substitution T C missense_variant V7A 20T>C COAD-US 16 84801894 84801894 single base substitution T C missense_variant V8A 23T>C COAD-US 16 84801926 84801926 single base substitution G T 3_prime_UTR_variant COAD-US 16 84801926 84801926 single base substitution G T downstream_gene_variant COAD-US 16 84801926 84801926 single base substitution G T stop_gained E18* 52G>T COAD-US 16 84801926 84801926 single base substitution G T stop_gained E19* 55G>T COAD-US 16 84801926 84801926 single base substitution G T stop_gained E654* 1960G>T COAD-US 16 84801926 84801926 single base substitution G T stop_gained E658* 1972G>T COAD-US 16 84806210 84806210 single base substitution C T 3_prime_UTR_variant COAD-US 16 84806210 84806210 single base substitution C T downstream_gene_variant COAD-US 16 84806210 84806210 single base substitution C T intron_variant COAD-US 16 84806210 84806210 single base substitution C T stop_gained R52* 154C>T COAD-US 16 84806210 84806210 single base substitution C T stop_gained R688* 2062C>T COAD-US 16 84806210 84806210 single base substitution C T stop_gained R692* 2074C>T COAD-US 16 84806268 84806268 single base substitution C A 3_prime_UTR_variant COAD-US 16 84806268 84806268 single base substitution C A downstream_gene_variant COAD-US 16 84806268 84806268 single base substitution C A intron_variant COAD-US 16 84806268 84806268 single base substitution C A missense_variant P707H 2120C>A COAD-US 16 84806268 84806268 single base substitution C A missense_variant P711H 2132C>A COAD-US 16 84806268 84806268 single base substitution C A missense_variant P71H 212C>A COAD-US 16 84808811 84808811 single base substitution G A 3_prime_UTR_variant COAD-US 16 84808811 84808811 single base substitution G A intron_variant COAD-US 16 84808811 84808811 single base substitution G A missense_variant E47K 139G>A COAD-US 16 84808811 84808811 single base substitution G A missense_variant R730Q 2189G>A COAD-US 16 84808811 84808811 single base substitution G A missense_variant R734Q 2201G>A COAD-US 16 84808824 84808824 single base substitution C G 3_prime_UTR_variant COAD-US 16 84808824 84808824 single base substitution C G intron_variant COAD-US 16 84808824 84808824 single base substitution C G missense_variant S51C 152C>G COAD-US 16 84808824 84808824 single base substitution C G synonymous_variant L734L 2202C>G COAD-US 16 84808824 84808824 single base substitution C G synonymous_variant L738L 2214C>G COAD-US 16 84812659 84812659 single base substitution C T 3_prime_UTR_variant COAD-US 16 84812659 84812659 single base substitution C T downstream_gene_variant COAD-US 16 84812659 84812659 single base substitution C T synonymous_variant L790L 2368C>T COAD-US 16 84812659 84812659 single base substitution C T synonymous_variant L794L 2380C>T COCA-CN 16 84778547 84778547 single base substitution A C 3_prime_UTR_variant COCA-CN 16 84778547 84778547 single base substitution A C downstream_gene_variant COCA-CN 16 84778547 84778547 single base substitution A C exon_variant COCA-CN 16 84778547 84778547 single base substitution A C intron_variant COCA-CN 16 84778547 84778547 single base substitution A C missense_variant K154Q 460A>C COCA-CN 16 84778547 84778547 single base substitution A C missense_variant K158Q 472A>C COCA-CN 16 84793261 84793261 single base substitution A G intron_variant COCA-CN 16 84793261 84793261 single base substitution A G upstream_gene_variant COCA-CN 16 84793973 84793973 single base substitution G A downstream_gene_variant COCA-CN 16 84793973 84793973 single base substitution G A intron_variant COCA-CN 16 84794039 84794039 single base substitution G T downstream_gene_variant COCA-CN 16 84794039 84794039 single base substitution G T intron_variant COCA-CN 16 84796807 84796807 single base substitution G A downstream_gene_variant COCA-CN 16 84796807 84796807 single base substitution G A intron_variant COCA-CN 16 84802021 84802021 single base substitution G T downstream_gene_variant COCA-CN 16 84802021 84802021 single base substitution G T intron_variant COCA-CN 16 84808863 84808863 single base substitution T G intron_variant EOPC-DE 16 84779121 84779121 single base substitution T A 3_prime_UTR_variant EOPC-DE 16 84779121 84779121 single base substitution T A downstream_gene_variant EOPC-DE 16 84779121 84779121 single base substitution T A intron_variant EOPC-DE 16 84779121 84779121 single base substitution T A missense_variant L345H 1034T>A EOPC-DE 16 84779121 84779121 single base substitution T A missense_variant L349H 1046T>A ESAD-UK 16 84730653 84730653 single base substitution C T upstream_gene_variant ESAD-UK 16 84733499 84733499 single base substitution C T upstream_gene_variant ESAD-UK 16 84733868 84733868 single base substitution A C intron_variant ESAD-UK 16 84735004 84735004 single base substitution A C intron_variant ESAD-UK 16 84736798 84736798 single base substitution A G intron_variant ESAD-UK 16 84738498 84738498 single base substitution G A intron_variant ESAD-UK 16 84738751 84738751 single base substitution G T intron_variant ESAD-UK 16 84738752 84738752 single base substitution C T intron_variant ESAD-UK 16 84739493 84739493 insertion of <=200bp - T intron_variant ESAD-UK 16 84741197 84741197 single base substitution G A intron_variant ESAD-UK 16 84743340 84743340 single base substitution T A downstream_gene_variant ESAD-UK 16 84743340 84743340 single base substitution T A intron_variant ESAD-UK 16 84743503 84743503 single base substitution G A downstream_gene_variant ESAD-UK 16 84743503 84743503 single base substitution G A intron_variant ESAD-UK 16 84744831 84744831 single base substitution G C downstream_gene_variant ESAD-UK 16 84744831 84744831 single base substitution G C intron_variant ESAD-UK 16 84745198 84745198 single base substitution C T downstream_gene_variant ESAD-UK 16 84745198 84745198 single base substitution C T intron_variant ESAD-UK 16 84745622 84745622 single base substitution G A downstream_gene_variant ESAD-UK 16 84745622 84745622 single base substitution G A intron_variant ESAD-UK 16 84746855 84746855 single base substitution G A downstream_gene_variant ESAD-UK 16 84746855 84746855 single base substitution G A intron_variant ESAD-UK 16 84748116 84748116 single base substitution T A intron_variant ESAD-UK 16 84748118 84748118 single base substitution T A intron_variant ESAD-UK 16 84748637 84748637 single base substitution C A intron_variant ESAD-UK 16 84750883 84750883 single base substitution C T intron_variant ESAD-UK 16 84751363 84751363 single base substitution G A intron_variant ESAD-UK 16 84751665 84751665 single base substitution C T intron_variant ESAD-UK 16 84756242 84756242 single base substitution A G intron_variant ESAD-UK 16 84758050 84758050 single base substitution A G intron_variant ESAD-UK 16 84763597 84763597 single base substitution G A intron_variant ESAD-UK 16 84763597 84763597 single base substitution G A upstream_gene_variant ESAD-UK 16 84763800 84763800 single base substitution T C intron_variant ESAD-UK 16 84763800 84763800 single base substitution T C upstream_gene_variant ESAD-UK 16 84765084 84765084 single base substitution C T intron_variant ESAD-UK 16 84765084 84765084 single base substitution C T upstream_gene_variant ESAD-UK 16 84766883 84766883 single base substitution C G downstream_gene_variant ESAD-UK 16 84766883 84766883 single base substitution C G exon_variant ESAD-UK 16 84766883 84766883 single base substitution C G intron_variant ESAD-UK 16 84767652 84767652 single base substitution G T downstream_gene_variant ESAD-UK 16 84767652 84767652 single base substitution G T intron_variant ESAD-UK 16 84769024 84769024 single base substitution C T downstream_gene_variant ESAD-UK 16 84769024 84769024 single base substitution C T intron_variant ESAD-UK 16 84769840 84769840 deletion of <=200bp T - downstream_gene_variant ESAD-UK 16 84769840 84769840 deletion of <=200bp T - intron_variant ESAD-UK 16 84770006 84770006 single base substitution T A downstream_gene_variant ESAD-UK 16 84770006 84770006 single base substitution T A intron_variant ESAD-UK 16 84771781 84771781 single base substitution G A intron_variant ESAD-UK 16 84772186 84772186 single base substitution G A intron_variant ESAD-UK 16 84773657 84773657 single base substitution C G intron_variant ESAD-UK 16 84779126 84779126 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 84779126 84779126 single base substitution C T downstream_gene_variant ESAD-UK 16 84779126 84779126 single base substitution C T intron_variant ESAD-UK 16 84779126 84779126 single base substitution C T missense_variant H347Y 1039C>T ESAD-UK 16 84779126 84779126 single base substitution C T missense_variant H351Y 1051C>T ESAD-UK 16 84780090 84780090 single base substitution G A downstream_gene_variant ESAD-UK 16 84780090 84780090 single base substitution G A intron_variant ESAD-UK 16 84781329 84781329 single base substitution C T downstream_gene_variant ESAD-UK 16 84781329 84781329 single base substitution C T intron_variant ESAD-UK 16 84782532 84782532 single base substitution T A downstream_gene_variant ESAD-UK 16 84782532 84782532 single base substitution T A intron_variant ESAD-UK 16 84782656 84782656 single base substitution A G downstream_gene_variant ESAD-UK 16 84782656 84782656 single base substitution A G intron_variant ESAD-UK 16 84783937 84783937 single base substitution C T intron_variant ESAD-UK 16 84788370 84788370 single base substitution T G intron_variant ESAD-UK 16 84788370 84788370 single base substitution T G upstream_gene_variant ESAD-UK 16 84788439 84788439 single base substitution C T intron_variant ESAD-UK 16 84788439 84788439 single base substitution C T upstream_gene_variant ESAD-UK 16 84788817 84788817 single base substitution A G intron_variant ESAD-UK 16 84788817 84788817 single base substitution A G upstream_gene_variant ESAD-UK 16 84788888 84788888 single base substitution C T intron_variant ESAD-UK 16 84788888 84788888 single base substitution C T upstream_gene_variant ESAD-UK 16 84788900 84788900 single base substitution C T intron_variant ESAD-UK 16 84788900 84788900 single base substitution C T upstream_gene_variant ESAD-UK 16 84788934 84788934 single base substitution C T intron_variant ESAD-UK 16 84788934 84788934 single base substitution C T upstream_gene_variant ESAD-UK 16 84789754 84789754 single base substitution G A intron_variant ESAD-UK 16 84789754 84789754 single base substitution G A upstream_gene_variant ESAD-UK 16 84791621 84791621 single base substitution G T intron_variant ESAD-UK 16 84791621 84791621 single base substitution G T upstream_gene_variant ESAD-UK 16 84794147 84794147 single base substitution G A downstream_gene_variant ESAD-UK 16 84794147 84794147 single base substitution G A intron_variant ESAD-UK 16 84795646 84795646 single base substitution A T downstream_gene_variant ESAD-UK 16 84795646 84795646 single base substitution A T intron_variant ESAD-UK 16 84795705 84795726 deletion of <=200bp ACTCGTGATGTGGGATTATTAA - downstream_gene_variant ESAD-UK 16 84795705 84795726 deletion of <=200bp ACTCGTGATGTGGGATTATTAA - intron_variant ESAD-UK 16 84800994 84800994 single base substitution C T downstream_gene_variant ESAD-UK 16 84800994 84800994 single base substitution C T intron_variant ESAD-UK 16 84800994 84800994 single base substitution C T upstream_gene_variant ESAD-UK 16 84802527 84802527 single base substitution T A downstream_gene_variant ESAD-UK 16 84802527 84802527 single base substitution T A intron_variant ESAD-UK 16 84806252 84806252 single base substitution A G 3_prime_UTR_variant ESAD-UK 16 84806252 84806252 single base substitution A G downstream_gene_variant ESAD-UK 16 84806252 84806252 single base substitution A G intron_variant ESAD-UK 16 84806252 84806252 single base substitution A G missense_variant K66E 196A>G ESAD-UK 16 84806252 84806252 single base substitution A G missense_variant K702E 2104A>G ESAD-UK 16 84806252 84806252 single base substitution A G missense_variant K706E 2116A>G ESAD-UK 16 84806687 84806687 single base substitution C A downstream_gene_variant ESAD-UK 16 84806687 84806687 single base substitution C A intron_variant ESAD-UK 16 84807106 84807106 single base substitution G A intron_variant ESAD-UK 16 84808429 84808429 single base substitution G T intron_variant ESAD-UK 16 84810370 84810370 single base substitution G A intron_variant ESAD-UK 16 84812884 84812884 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 84812884 84812884 single base substitution C T downstream_gene_variant ESAD-UK 16 84816611 84816611 single base substitution T C downstream_gene_variant ESAD-UK 16 84817659 84817659 single base substitution G A downstream_gene_variant ESAD-UK 16 84817894 84817894 single base substitution T C downstream_gene_variant GBM-US 16 84812553 84812553 single base substitution C A 3_prime_UTR_variant GBM-US 16 84812553 84812553 single base substitution C A missense_variant S71Y 212C>A GBM-US 16 84812553 84812553 single base substitution C A synonymous_variant V754V 2262C>A GBM-US 16 84812553 84812553 single base substitution C A synonymous_variant V758V 2274C>A GBM-US 16 84812553 84812553 single base substitution C A synonymous_variant V96V 288C>A KIRC-US 16 84773939 84773939 single base substitution C G 3_prime_UTR_variant KIRC-US 16 84773939 84773939 single base substitution C G downstream_gene_variant KIRC-US 16 84773939 84773939 single base substitution C G exon_variant KIRC-US 16 84773939 84773939 single base substitution C G intron_variant KIRC-US 16 84773939 84773939 single base substitution C G missense_variant L33V 97C>G KIRC-US 16 84773939 84773939 single base substitution C G missense_variant L39V 115C>G KIRC-US 16 84773939 84773939 single base substitution C G missense_variant L43V 127C>G LAML-KR 16 84805909 84805909 single base substitution A C downstream_gene_variant LAML-KR 16 84805909 84805909 single base substitution A C intron_variant LAML-KR 16 84809920 84809920 single base substitution G A intron_variant LGG-US 16 84778248 84778248 single base substitution A G 3_prime_UTR_variant LGG-US 16 84778248 84778248 single base substitution A G downstream_gene_variant LGG-US 16 84778248 84778248 single base substitution A G exon_variant LGG-US 16 84778248 84778248 single base substitution A G intron_variant LGG-US 16 84778248 84778248 single base substitution A G missense_variant Y48C 143A>G LGG-US 16 84778248 84778248 single base substitution A G missense_variant Y54C 161A>G LGG-US 16 84778248 84778248 single base substitution A G missense_variant Y58C 173A>G LICA-CN 16 84778292 84778292 single base substitution G C 3_prime_UTR_variant LICA-CN 16 84778292 84778292 single base substitution G C downstream_gene_variant LICA-CN 16 84778292 84778292 single base substitution G C exon_variant LICA-CN 16 84778292 84778292 single base substitution G C intron_variant LICA-CN 16 84778292 84778292 single base substitution G C missense_variant D63H 187G>C LICA-CN 16 84778292 84778292 single base substitution G C missense_variant D69H 205G>C LICA-CN 16 84778292 84778292 single base substitution G C missense_variant D73H 217G>C LICA-FR 16 84740648 84740648 single base substitution T C intron_variant LICA-FR 16 84755043 84755043 single base substitution T C intron_variant LICA-FR 16 84765608 84765608 single base substitution G T intron_variant LICA-FR 16 84765608 84765608 single base substitution G T upstream_gene_variant LICA-FR 16 84772669 84772669 insertion of <=200bp - TTT intron_variant LICA-FR 16 84778382 84778382 single base substitution A G 3_prime_UTR_variant LICA-FR 16 84778382 84778382 single base substitution A G downstream_gene_variant LICA-FR 16 84778382 84778382 single base substitution A G exon_variant LICA-FR 16 84778382 84778382 single base substitution A G intron_variant LICA-FR 16 84778382 84778382 single base substitution A G missense_variant I103V 307A>G LICA-FR 16 84778382 84778382 single base substitution A G missense_variant I93V 277A>G LICA-FR 16 84778382 84778382 single base substitution A G missense_variant I99V 295A>G LICA-FR 16 84778658 84778658 single base substitution G A 3_prime_UTR_variant LICA-FR 16 84778658 84778658 single base substitution G A downstream_gene_variant LICA-FR 16 84778658 84778658 single base substitution G A exon_variant LICA-FR 16 84778658 84778658 single base substitution G A intron_variant LICA-FR 16 84778658 84778658 single base substitution G A missense_variant A191T 571G>A LICA-FR 16 84778658 84778658 single base substitution G A missense_variant A195T 583G>A LICA-FR 16 84784809 84784809 single base substitution C G intron_variant LICA-FR 16 84796388 84796389 deletion of <=200bp AT - downstream_gene_variant LICA-FR 16 84796388 84796389 deletion of <=200bp AT - intron_variant LICA-FR 16 84811698 84811698 insertion of <=200bp - TGTGTGTGTGTGTGTG intron_variant LICA-FR 16 84812524 84812524 single base substitution G A 3_prime_UTR_variant LICA-FR 16 84812524 84812524 single base substitution G A missense_variant A745T 2233G>A LICA-FR 16 84812524 84812524 single base substitution G A missense_variant A749T 2245G>A LICA-FR 16 84812524 84812524 single base substitution G A missense_variant A87T 259G>A LICA-FR 16 84812524 84812524 single base substitution G A synonymous_variant V61V 183G>A LIHC-US 16 84801856 84801856 single base substitution G A 3_prime_UTR_variant LIHC-US 16 84801856 84801856 single base substitution G A downstream_gene_variant LIHC-US 16 84801856 84801856 single base substitution G A missense_variant V202I 604G>A LIHC-US 16 84801856 84801856 single base substitution G A synonymous_variant T142T 426G>A LIHC-US 16 84801856 84801856 single base substitution G A synonymous_variant T630T 1890G>A LIHC-US 16 84801856 84801856 single base substitution G A synonymous_variant T634T 1902G>A LIHC-US 16 84801856 84801856 single base substitution G A upstream_gene_variant LINC-JP 16 84735975 84735975 single base substitution T C intron_variant LINC-JP 16 84743834 84743834 single base substitution C T downstream_gene_variant LINC-JP 16 84743834 84743834 single base substitution C T intron_variant LINC-JP 16 84763769 84763769 single base substitution G A intron_variant LINC-JP 16 84763769 84763769 single base substitution G A upstream_gene_variant LINC-JP 16 84767152 84767152 single base substitution A G downstream_gene_variant LINC-JP 16 84767152 84767152 single base substitution A G intron_variant LINC-JP 16 84777836 84777836 single base substitution T C downstream_gene_variant LINC-JP 16 84777836 84777836 single base substitution T C intron_variant LINC-JP 16 84780531 84780531 single base substitution T G downstream_gene_variant LINC-JP 16 84780531 84780531 single base substitution T G intron_variant LINC-JP 16 84785919 84785919 single base substitution A G intron_variant LINC-JP 16 84800586 84800586 single base substitution C A downstream_gene_variant LINC-JP 16 84800586 84800586 single base substitution C A intron_variant LINC-JP 16 84800586 84800586 single base substitution C A upstream_gene_variant LIRI-JP 16 84730441 84730441 single base substitution G A upstream_gene_variant LIRI-JP 16 84730790 84730790 single base substitution T C upstream_gene_variant LIRI-JP 16 84733456 84733456 single base substitution G T upstream_gene_variant LIRI-JP 16 84735605 84735605 single base substitution T C intron_variant LIRI-JP 16 84736529 84736529 single base substitution G A intron_variant LIRI-JP 16 84737532 84737532 single base substitution A G intron_variant LIRI-JP 16 84740227 84740227 single base substitution A C intron_variant LIRI-JP 16 84740346 84740346 single base substitution C A intron_variant LIRI-JP 16 84742261 84742261 single base substitution A C intron_variant LIRI-JP 16 84743707 84743707 single base substitution C G downstream_gene_variant LIRI-JP 16 84743707 84743707 single base substitution C G intron_variant LIRI-JP 16 84747540 84747540 single base substitution G A downstream_gene_variant LIRI-JP 16 84747540 84747540 single base substitution G A intron_variant LIRI-JP 16 84748878 84748878 single base substitution C G intron_variant LIRI-JP 16 84748993 84748993 single base substitution A T intron_variant LIRI-JP 16 84749219 84749219 single base substitution C A intron_variant LIRI-JP 16 84752164 84752164 single base substitution C T intron_variant LIRI-JP 16 84753244 84753244 single base substitution A G intron_variant LIRI-JP 16 84753496 84753496 single base substitution A G intron_variant LIRI-JP 16 84754823 84754823 single base substitution T A intron_variant LIRI-JP 16 84756006 84756006 single base substitution C T intron_variant LIRI-JP 16 84758899 84758899 single base substitution A G intron_variant LIRI-JP 16 84759452 84759452 single base substitution A G intron_variant LIRI-JP 16 84759781 84759782 deletion of <=200bp AG - intron_variant LIRI-JP 16 84762427 84762427 single base substitution C T intron_variant LIRI-JP 16 84762427 84762427 single base substitution C T upstream_gene_variant LIRI-JP 16 84763725 84763725 single base substitution T C intron_variant LIRI-JP 16 84763725 84763725 single base substitution T C upstream_gene_variant LIRI-JP 16 84764358 84764358 single base substitution T C intron_variant LIRI-JP 16 84764358 84764358 single base substitution T C upstream_gene_variant LIRI-JP 16 84766198 84766198 single base substitution A G intron_variant LIRI-JP 16 84766198 84766198 single base substitution A G splice_region_variant LIRI-JP 16 84766198 84766198 single base substitution A G upstream_gene_variant LIRI-JP 16 84766420 84766420 single base substitution C T intron_variant LIRI-JP 16 84766420 84766420 single base substitution C T upstream_gene_variant LIRI-JP 16 84767013 84767013 single base substitution G T downstream_gene_variant LIRI-JP 16 84767013 84767013 single base substitution G T exon_variant LIRI-JP 16 84767013 84767013 single base substitution G T intron_variant LIRI-JP 16 84767162 84767162 single base substitution A C downstream_gene_variant LIRI-JP 16 84767162 84767162 single base substitution A C intron_variant LIRI-JP 16 84772483 84772483 single base substitution A G intron_variant LIRI-JP 16 84774284 84774284 single base substitution A T downstream_gene_variant LIRI-JP 16 84774284 84774284 single base substitution A T intron_variant LIRI-JP 16 84776350 84776350 single base substitution C T downstream_gene_variant LIRI-JP 16 84776350 84776350 single base substitution C T intron_variant LIRI-JP 16 84777958 84777958 single base substitution A G downstream_gene_variant LIRI-JP 16 84777958 84777958 single base substitution A G intron_variant LIRI-JP 16 84780083 84780083 single base substitution G C downstream_gene_variant LIRI-JP 16 84780083 84780083 single base substitution G C intron_variant LIRI-JP 16 84784847 84784847 single base substitution T A intron_variant LIRI-JP 16 84785929 84785929 single base substitution T G intron_variant LIRI-JP 16 84786118 84786118 single base substitution G A intron_variant LIRI-JP 16 84788572 84788572 single base substitution C A intron_variant LIRI-JP 16 84788572 84788572 single base substitution C A upstream_gene_variant LIRI-JP 16 84789897 84789897 single base substitution T C intron_variant LIRI-JP 16 84789897 84789897 single base substitution T C upstream_gene_variant LIRI-JP 16 84791001 84791004 deletion of <=200bp GGGT - intron_variant LIRI-JP 16 84791001 84791004 deletion of <=200bp GGGT - upstream_gene_variant LIRI-JP 16 84791422 84791422 single base substitution A C intron_variant LIRI-JP 16 84791422 84791422 single base substitution A C upstream_gene_variant LIRI-JP 16 84792847 84792847 single base substitution C G intron_variant LIRI-JP 16 84792847 84792847 single base substitution C G upstream_gene_variant LIRI-JP 16 84795077 84795077 single base substitution C T downstream_gene_variant LIRI-JP 16 84795077 84795077 single base substitution C T intron_variant LIRI-JP 16 84799047 84799047 single base substitution A G downstream_gene_variant LIRI-JP 16 84799047 84799047 single base substitution A G intron_variant LIRI-JP 16 84799047 84799047 single base substitution A G upstream_gene_variant LIRI-JP 16 84799243 84799243 single base substitution A G downstream_gene_variant LIRI-JP 16 84799243 84799243 single base substitution A G intron_variant LIRI-JP 16 84799243 84799243 single base substitution A G upstream_gene_variant LIRI-JP 16 84801379 84801379 single base substitution A T downstream_gene_variant LIRI-JP 16 84801379 84801379 single base substitution A T intron_variant LIRI-JP 16 84801379 84801379 single base substitution A T upstream_gene_variant LIRI-JP 16 84801869 84801869 single base substitution A T 3_prime_UTR_variant LIRI-JP 16 84801869 84801869 single base substitution A T downstream_gene_variant LIRI-JP 16 84801869 84801869 single base substitution A T missense_variant I147F 439A>T LIRI-JP 16 84801869 84801869 single base substitution A T missense_variant I635F 1903A>T LIRI-JP 16 84801869 84801869 single base substitution A T missense_variant I639F 1915A>T LIRI-JP 16 84801869 84801869 single base substitution A T missense_variant Y206F 617A>T LIRI-JP 16 84801869 84801869 single base substitution A T upstream_gene_variant LIRI-JP 16 84802278 84802278 single base substitution A G downstream_gene_variant LIRI-JP 16 84802278 84802278 single base substitution A G intron_variant LIRI-JP 16 84803751 84803751 single base substitution A G downstream_gene_variant LIRI-JP 16 84803751 84803751 single base substitution A G intron_variant LIRI-JP 16 84810460 84810460 single base substitution C T intron_variant LIRI-JP 16 84812946 84812946 single base substitution A G 3_prime_UTR_variant LIRI-JP 16 84812946 84812946 single base substitution A G downstream_gene_variant LIRI-JP 16 84813492 84813492 single base substitution T G 3_prime_UTR_variant LIRI-JP 16 84813492 84813492 single base substitution T G downstream_gene_variant LIRI-JP 16 84814821 84814821 single base substitution T C downstream_gene_variant LIRI-JP 16 84815271 84815271 single base substitution A G downstream_gene_variant LIRI-JP 16 84817001 84817001 single base substitution A T downstream_gene_variant LIRI-JP 16 84817507 84817507 single base substitution A G downstream_gene_variant LUSC-KR 16 84733691 84733691 single base substitution G T 5_prime_UTR_variant LUSC-KR 16 84733691 84733691 single base substitution G T exon_variant LUSC-KR 16 84735971 84735971 single base substitution C T intron_variant LUSC-KR 16 84736712 84736712 single base substitution T C intron_variant LUSC-KR 16 84751646 84751646 single base substitution A C intron_variant LUSC-KR 16 84766456 84766456 single base substitution A T intron_variant LUSC-KR 16 84766456 84766456 single base substitution A T upstream_gene_variant LUSC-KR 16 84766970 84766970 single base substitution T C downstream_gene_variant LUSC-KR 16 84766970 84766970 single base substitution T C exon_variant LUSC-KR 16 84766970 84766970 single base substitution T C intron_variant LUSC-KR 16 84772683 84772683 single base substitution G T intron_variant LUSC-KR 16 84774173 84774173 single base substitution A G downstream_gene_variant LUSC-KR 16 84774173 84774173 single base substitution A G intron_variant LUSC-KR 16 84778426 84778426 single base substitution C T 3_prime_UTR_variant LUSC-KR 16 84778426 84778426 single base substitution C T downstream_gene_variant LUSC-KR 16 84778426 84778426 single base substitution C T exon_variant LUSC-KR 16 84778426 84778426 single base substitution C T intron_variant LUSC-KR 16 84778426 84778426 single base substitution C T synonymous_variant I107I 321C>T LUSC-KR 16 84778426 84778426 single base substitution C T synonymous_variant I113I 339C>T LUSC-KR 16 84778426 84778426 single base substitution C T synonymous_variant I117I 351C>T LUSC-KR 16 84778685 84778685 single base substitution A G 3_prime_UTR_variant LUSC-KR 16 84778685 84778685 single base substitution A G downstream_gene_variant LUSC-KR 16 84778685 84778685 single base substitution A G exon_variant LUSC-KR 16 84778685 84778685 single base substitution A G intron_variant LUSC-KR 16 84778685 84778685 single base substitution A G missense_variant M200V 598A>G LUSC-KR 16 84778685 84778685 single base substitution A G missense_variant M204V 610A>G LUSC-KR 16 84778690 84778690 single base substitution C T 3_prime_UTR_variant LUSC-KR 16 84778690 84778690 single base substitution C T downstream_gene_variant LUSC-KR 16 84778690 84778690 single base substitution C T exon_variant LUSC-KR 16 84778690 84778690 single base substitution C T intron_variant LUSC-KR 16 84778690 84778690 single base substitution C T synonymous_variant P201P 603C>T LUSC-KR 16 84778690 84778690 single base substitution C T synonymous_variant P205P 615C>T LUSC-KR 16 84780095 84780095 single base substitution A C downstream_gene_variant LUSC-KR 16 84780095 84780095 single base substitution A C intron_variant LUSC-KR 16 84783093 84783093 single base substitution G C downstream_gene_variant LUSC-KR 16 84783093 84783093 single base substitution G C intron_variant LUSC-KR 16 84792291 84792291 single base substitution A G intron_variant LUSC-KR 16 84792291 84792291 single base substitution A G upstream_gene_variant LUSC-KR 16 84797637 84797637 single base substitution T A downstream_gene_variant LUSC-KR 16 84797637 84797637 single base substitution T A intron_variant LUSC-KR 16 84797637 84797637 single base substitution T A upstream_gene_variant LUSC-KR 16 84808622 84808622 single base substitution T G intron_variant LUSC-KR 16 84808824 84808824 single base substitution C G 3_prime_UTR_variant LUSC-KR 16 84808824 84808824 single base substitution C G intron_variant LUSC-KR 16 84808824 84808824 single base substitution C G missense_variant S51C 152C>G LUSC-KR 16 84808824 84808824 single base substitution C G synonymous_variant L734L 2202C>G LUSC-KR 16 84808824 84808824 single base substitution C G synonymous_variant L738L 2214C>G LUSC-KR 16 84816124 84816124 single base substitution G T downstream_gene_variant LUSC-KR 16 84817433 84817433 single base substitution A T downstream_gene_variant LUSC-US 16 84778370 84778370 single base substitution A G 3_prime_UTR_variant LUSC-US 16 84778370 84778370 single base substitution A G downstream_gene_variant LUSC-US 16 84778370 84778370 single base substitution A G exon_variant LUSC-US 16 84778370 84778370 single base substitution A G intron_variant LUSC-US 16 84778370 84778370 single base substitution A G missense_variant T89A 265A>G LUSC-US 16 84778370 84778370 single base substitution A G missense_variant T95A 283A>G LUSC-US 16 84778370 84778370 single base substitution A G missense_variant T99A 295A>G MALY-DE 16 84728961 84728961 single base substitution T G upstream_gene_variant MALY-DE 16 84730337 84730337 single base substitution C A upstream_gene_variant MALY-DE 16 84731480 84731480 single base substitution C T upstream_gene_variant MALY-DE 16 84746821 84746821 single base substitution T G downstream_gene_variant MALY-DE 16 84746821 84746821 single base substitution T G intron_variant MALY-DE 16 84751134 84751134 single base substitution G A intron_variant MALY-DE 16 84753563 84753563 single base substitution T C intron_variant MALY-DE 16 84753694 84753694 single base substitution T G intron_variant MALY-DE 16 84754421 84754421 single base substitution C T intron_variant MALY-DE 16 84758445 84758445 single base substitution A G intron_variant MALY-DE 16 84764348 84764348 single base substitution A C intron_variant MALY-DE 16 84764348 84764348 single base substitution A C upstream_gene_variant MALY-DE 16 84764350 84764350 single base substitution C T intron_variant MALY-DE 16 84764350 84764350 single base substitution C T upstream_gene_variant MALY-DE 16 84769845 84769845 deletion of <=200bp C - downstream_gene_variant MALY-DE 16 84769845 84769845 deletion of <=200bp C - intron_variant MALY-DE 16 84770844 84770844 single base substitution C G downstream_gene_variant MALY-DE 16 84770844 84770844 single base substitution C G intron_variant MALY-DE 16 84798813 84798813 single base substitution T G downstream_gene_variant MALY-DE 16 84798813 84798813 single base substitution T G intron_variant MALY-DE 16 84798813 84798813 single base substitution T G upstream_gene_variant MALY-DE 16 84798898 84798898 single base substitution A G downstream_gene_variant MALY-DE 16 84798898 84798898 single base substitution A G intron_variant MALY-DE 16 84798898 84798898 single base substitution A G upstream_gene_variant MALY-DE 16 84798909 84798909 single base substitution T C downstream_gene_variant MALY-DE 16 84798909 84798909 single base substitution T C intron_variant MALY-DE 16 84798909 84798909 single base substitution T C upstream_gene_variant MALY-DE 16 84798983 84798983 single base substitution T C downstream_gene_variant MALY-DE 16 84798983 84798983 single base substitution T C intron_variant MALY-DE 16 84798983 84798983 single base substitution T C upstream_gene_variant MALY-DE 16 84800052 84800052 single base substitution T C downstream_gene_variant MALY-DE 16 84800052 84800052 single base substitution T C intron_variant MALY-DE 16 84800052 84800052 single base substitution T C upstream_gene_variant MALY-DE 16 84802119 84802119 single base substitution G A downstream_gene_variant MALY-DE 16 84802119 84802119 single base substitution G A intron_variant MALY-DE 16 84807132 84807132 single base substitution C G intron_variant MALY-DE 16 84809906 84809906 single base substitution A G intron_variant MALY-DE 16 84816752 84816752 single base substitution C T downstream_gene_variant MALY-DE 16 84816788 84816788 single base substitution C A downstream_gene_variant MELA-AU 16 84728733 84728733 single base substitution G A upstream_gene_variant MELA-AU 16 84729270 84729270 single base substitution C A upstream_gene_variant MELA-AU 16 84729614 84729614 single base substitution C T upstream_gene_variant MELA-AU 16 84729655 84729655 single base substitution C T upstream_gene_variant MELA-AU 16 84729793 84729793 single base substitution C T upstream_gene_variant MELA-AU 16 84730680 84730680 single base substitution G T upstream_gene_variant MELA-AU 16 84730874 84730874 single base substitution G A upstream_gene_variant MELA-AU 16 84730938 84730938 single base substitution C T upstream_gene_variant MELA-AU 16 84730946 84730946 single base substitution G A upstream_gene_variant MELA-AU 16 84731087 84731087 single base substitution G A upstream_gene_variant MELA-AU 16 84731413 84731413 single base substitution G T upstream_gene_variant MELA-AU 16 84731423 84731423 single base substitution G A upstream_gene_variant MELA-AU 16 84732311 84732312 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 84732444 84732444 single base substitution C T upstream_gene_variant MELA-AU 16 84732476 84732476 single base substitution C T upstream_gene_variant MELA-AU 16 84734001 84734001 single base substitution C T intron_variant MELA-AU 16 84734026 84734026 single base substitution C T intron_variant MELA-AU 16 84734045 84734045 single base substitution C T intron_variant MELA-AU 16 84734105 84734105 single base substitution A G intron_variant MELA-AU 16 84735331 84735331 single base substitution C T intron_variant MELA-AU 16 84735486 84735486 single base substitution T A intron_variant MELA-AU 16 84735982 84735982 single base substitution C T intron_variant MELA-AU 16 84736402 84736402 single base substitution C T intron_variant MELA-AU 16 84737258 84737258 single base substitution C T intron_variant MELA-AU 16 84737832 84737832 single base substitution C T intron_variant MELA-AU 16 84738260 84738260 single base substitution A G intron_variant MELA-AU 16 84738317 84738317 single base substitution G A intron_variant MELA-AU 16 84739058 84739058 single base substitution C T intron_variant MELA-AU 16 84739187 84739187 single base substitution C T intron_variant MELA-AU 16 84739547 84739547 single base substitution G T intron_variant MELA-AU 16 84739621 84739621 single base substitution C T intron_variant MELA-AU 16 84739629 84739629 single base substitution C T intron_variant MELA-AU 16 84740557 84740557 single base substitution C T intron_variant MELA-AU 16 84741087 84741087 single base substitution C T intron_variant MELA-AU 16 84741537 84741537 single base substitution C T intron_variant MELA-AU 16 84742171 84742171 single base substitution C T intron_variant MELA-AU 16 84742232 84742232 single base substitution C T intron_variant MELA-AU 16 84742453 84742453 single base substitution T C intron_variant MELA-AU 16 84742523 84742523 single base substitution C T exon_variant MELA-AU 16 84742523 84742523 single base substitution C T intron_variant MELA-AU 16 84742540 84742540 single base substitution C T exon_variant MELA-AU 16 84742540 84742540 single base substitution C T intron_variant MELA-AU 16 84742587 84742587 single base substitution G A exon_variant MELA-AU 16 84742587 84742587 single base substitution G A intron_variant MELA-AU 16 84743175 84743175 single base substitution C T downstream_gene_variant MELA-AU 16 84743175 84743175 single base substitution C T intron_variant MELA-AU 16 84744774 84744774 single base substitution T C downstream_gene_variant MELA-AU 16 84744774 84744774 single base substitution T C intron_variant MELA-AU 16 84745489 84745489 single base substitution C G downstream_gene_variant MELA-AU 16 84745489 84745489 single base substitution C G intron_variant MELA-AU 16 84745598 84745598 single base substitution T C downstream_gene_variant MELA-AU 16 84745598 84745598 single base substitution T C intron_variant MELA-AU 16 84747112 84747112 single base substitution C T downstream_gene_variant MELA-AU 16 84747112 84747112 single base substitution C T intron_variant MELA-AU 16 84747736 84747736 single base substitution G A downstream_gene_variant MELA-AU 16 84747736 84747736 single base substitution G A intron_variant MELA-AU 16 84747817 84747817 single base substitution G A downstream_gene_variant MELA-AU 16 84747817 84747817 single base substitution G A intron_variant MELA-AU 16 84747963 84747963 single base substitution C T intron_variant MELA-AU 16 84748068 84748068 single base substitution A T intron_variant MELA-AU 16 84748186 84748186 single base substitution C A intron_variant MELA-AU 16 84748818 84748818 single base substitution G T intron_variant MELA-AU 16 84748934 84748934 single base substitution C T intron_variant MELA-AU 16 84749268 84749268 single base substitution G T intron_variant MELA-AU 16 84749783 84749783 single base substitution C T intron_variant MELA-AU 16 84750388 84750388 single base substitution C T intron_variant MELA-AU 16 84750778 84750778 single base substitution T C intron_variant MELA-AU 16 84752686 84752686 single base substitution C T intron_variant MELA-AU 16 84752758 84752758 single base substitution C T intron_variant MELA-AU 16 84752939 84752939 single base substitution A G intron_variant MELA-AU 16 84753063 84753063 single base substitution C T intron_variant MELA-AU 16 84753207 84753207 single base substitution G A intron_variant MELA-AU 16 84753467 84753467 single base substitution C A intron_variant MELA-AU 16 84753540 84753540 single base substitution T C intron_variant MELA-AU 16 84753648 84753648 single base substitution C T intron_variant MELA-AU 16 84754004 84754004 single base substitution G T intron_variant MELA-AU 16 84754010 84754010 single base substitution G T intron_variant MELA-AU 16 84754544 84754544 single base substitution G A intron_variant MELA-AU 16 84754610 84754610 single base substitution C T intron_variant MELA-AU 16 84754920 84754920 single base substitution C T intron_variant MELA-AU 16 84755068 84755068 single base substitution A C intron_variant MELA-AU 16 84755558 84755558 single base substitution C T intron_variant MELA-AU 16 84756903 84756903 single base substitution A G intron_variant MELA-AU 16 84757386 84757386 single base substitution C T intron_variant MELA-AU 16 84759255 84759255 single base substitution C T intron_variant MELA-AU 16 84759315 84759315 single base substitution G C intron_variant MELA-AU 16 84759510 84759510 single base substitution G A intron_variant MELA-AU 16 84760013 84760013 single base substitution C T intron_variant MELA-AU 16 84760211 84760211 single base substitution C T intron_variant MELA-AU 16 84761101 84761101 single base substitution C T intron_variant MELA-AU 16 84761337 84761337 single base substitution C T intron_variant MELA-AU 16 84761773 84761773 single base substitution C T intron_variant MELA-AU 16 84761773 84761773 single base substitution C T upstream_gene_variant MELA-AU 16 84762384 84762384 single base substitution C T intron_variant MELA-AU 16 84762384 84762384 single base substitution C T upstream_gene_variant MELA-AU 16 84762471 84762471 single base substitution C T intron_variant MELA-AU 16 84762471 84762471 single base substitution C T upstream_gene_variant MELA-AU 16 84763105 84763105 single base substitution A T intron_variant MELA-AU 16 84763105 84763105 single base substitution A T upstream_gene_variant MELA-AU 16 84764305 84764305 single base substitution C T intron_variant MELA-AU 16 84764305 84764305 single base substitution C T upstream_gene_variant MELA-AU 16 84765443 84765443 single base substitution C T intron_variant MELA-AU 16 84765443 84765443 single base substitution C T upstream_gene_variant MELA-AU 16 84766627 84766627 single base substitution C T intron_variant MELA-AU 16 84766627 84766627 single base substitution C T upstream_gene_variant MELA-AU 16 84766693 84766693 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 84766693 84766693 single base substitution G T downstream_gene_variant MELA-AU 16 84766693 84766693 single base substitution G T exon_variant MELA-AU 16 84766693 84766693 single base substitution G T intron_variant MELA-AU 16 84766693 84766693 single base substitution G T splice_region_variant MELA-AU 16 84766693 84766693 single base substitution G T upstream_gene_variant MELA-AU 16 84768096 84768096 single base substitution T A downstream_gene_variant MELA-AU 16 84768096 84768096 single base substitution T A intron_variant MELA-AU 16 84768268 84768268 single base substitution T C downstream_gene_variant MELA-AU 16 84768268 84768268 single base substitution T C intron_variant MELA-AU 16 84768336 84768336 single base substitution G A downstream_gene_variant MELA-AU 16 84768336 84768336 single base substitution G A intron_variant MELA-AU 16 84768599 84768599 single base substitution C T downstream_gene_variant MELA-AU 16 84768599 84768599 single base substitution C T intron_variant MELA-AU 16 84768648 84768648 single base substitution T A downstream_gene_variant MELA-AU 16 84768648 84768648 single base substitution T A intron_variant MELA-AU 16 84768729 84768729 single base substitution C T downstream_gene_variant MELA-AU 16 84768729 84768729 single base substitution C T intron_variant MELA-AU 16 84769614 84769615 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 84769614 84769615 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 84770249 84770249 single base substitution G A downstream_gene_variant MELA-AU 16 84770249 84770249 single base substitution G A intron_variant MELA-AU 16 84770716 84770716 single base substitution T A downstream_gene_variant MELA-AU 16 84770716 84770716 single base substitution T A intron_variant MELA-AU 16 84770780 84770780 single base substitution C T downstream_gene_variant MELA-AU 16 84770780 84770780 single base substitution C T intron_variant MELA-AU 16 84771685 84771685 single base substitution T C intron_variant MELA-AU 16 84771705 84771705 single base substitution G T intron_variant MELA-AU 16 84771785 84771785 single base substitution T A intron_variant MELA-AU 16 84773684 84773684 single base substitution C T intron_variant MELA-AU 16 84774227 84774227 single base substitution C T downstream_gene_variant MELA-AU 16 84774227 84774227 single base substitution C T intron_variant MELA-AU 16 84776081 84776081 single base substitution C T downstream_gene_variant MELA-AU 16 84776081 84776081 single base substitution C T intron_variant MELA-AU 16 84776948 84776948 single base substitution C T downstream_gene_variant MELA-AU 16 84776948 84776948 single base substitution C T intron_variant MELA-AU 16 84777588 84777588 single base substitution G A downstream_gene_variant MELA-AU 16 84777588 84777588 single base substitution G A intron_variant MELA-AU 16 84778771 84778771 single base substitution C T 3_prime_UTR_variant MELA-AU 16 84778771 84778771 single base substitution C T downstream_gene_variant MELA-AU 16 84778771 84778771 single base substitution C T exon_variant MELA-AU 16 84778771 84778771 single base substitution C T intron_variant MELA-AU 16 84778771 84778771 single base substitution C T synonymous_variant F228F 684C>T MELA-AU 16 84778771 84778771 single base substitution C T synonymous_variant F232F 696C>T MELA-AU 16 84780402 84780402 single base substitution A G downstream_gene_variant MELA-AU 16 84780402 84780402 single base substitution A G intron_variant MELA-AU 16 84780804 84780804 single base substitution C T downstream_gene_variant MELA-AU 16 84780804 84780804 single base substitution C T intron_variant MELA-AU 16 84781283 84781283 single base substitution C T downstream_gene_variant MELA-AU 16 84781283 84781283 single base substitution C T intron_variant MELA-AU 16 84782001 84782001 single base substitution C T downstream_gene_variant MELA-AU 16 84782001 84782001 single base substitution C T intron_variant MELA-AU 16 84782795 84782796 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 84782795 84782796 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 84783279 84783279 single base substitution C T downstream_gene_variant MELA-AU 16 84783279 84783279 single base substitution C T intron_variant MELA-AU 16 84785330 84785330 single base substitution G A intron_variant MELA-AU 16 84785465 84785465 single base substitution C T intron_variant MELA-AU 16 84785662 84785662 single base substitution C T intron_variant MELA-AU 16 84786617 84786618 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 84786832 84786832 single base substitution C T intron_variant MELA-AU 16 84787161 84787162 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 84787209 84787209 single base substitution G C intron_variant MELA-AU 16 84787425 84787425 single base substitution T C intron_variant MELA-AU 16 84787464 84787464 single base substitution G A intron_variant MELA-AU 16 84787684 84787684 single base substitution G C intron_variant MELA-AU 16 84787714 84787714 single base substitution C T intron_variant MELA-AU 16 84787760 84787760 single base substitution G A intron_variant MELA-AU 16 84788014 84788014 single base substitution A G intron_variant MELA-AU 16 84788014 84788014 single base substitution A G upstream_gene_variant MELA-AU 16 84788070 84788070 single base substitution C T intron_variant MELA-AU 16 84788070 84788070 single base substitution C T upstream_gene_variant MELA-AU 16 84788500 84788501 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 16 84788500 84788501 multiple base substitution (>=2bp and <=200bp) AC CT upstream_gene_variant MELA-AU 16 84788628 84788628 single base substitution G A intron_variant MELA-AU 16 84788628 84788628 single base substitution G A upstream_gene_variant MELA-AU 16 84788974 84788974 single base substitution C T intron_variant MELA-AU 16 84788974 84788974 single base substitution C T upstream_gene_variant MELA-AU 16 84789169 84789169 single base substitution G A intron_variant MELA-AU 16 84789169 84789169 single base substitution G A upstream_gene_variant MELA-AU 16 84789215 84789215 single base substitution C T intron_variant MELA-AU 16 84789215 84789215 single base substitution C T upstream_gene_variant MELA-AU 16 84789592 84789592 single base substitution C T intron_variant MELA-AU 16 84789592 84789592 single base substitution C T upstream_gene_variant MELA-AU 16 84790569 84790570 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 84790569 84790570 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 84792239 84792239 single base substitution C T intron_variant MELA-AU 16 84792239 84792239 single base substitution C T upstream_gene_variant MELA-AU 16 84792464 84792464 single base substitution C T intron_variant MELA-AU 16 84792464 84792464 single base substitution C T upstream_gene_variant MELA-AU 16 84793201 84793201 single base substitution T A intron_variant MELA-AU 16 84793201 84793201 single base substitution T A upstream_gene_variant MELA-AU 16 84794947 84794947 single base substitution T C downstream_gene_variant MELA-AU 16 84794947 84794947 single base substitution T C intron_variant MELA-AU 16 84795580 84795580 single base substitution G A downstream_gene_variant MELA-AU 16 84795580 84795580 single base substitution G A intron_variant MELA-AU 16 84795966 84795966 single base substitution C A downstream_gene_variant MELA-AU 16 84795966 84795966 single base substitution C A intron_variant MELA-AU 16 84796883 84796883 single base substitution C T downstream_gene_variant MELA-AU 16 84796883 84796883 single base substitution C T intron_variant MELA-AU 16 84796883 84796883 single base substitution C T upstream_gene_variant MELA-AU 16 84796890 84796890 single base substitution C T downstream_gene_variant MELA-AU 16 84796890 84796890 single base substitution C T intron_variant MELA-AU 16 84796890 84796890 single base substitution C T upstream_gene_variant MELA-AU 16 84797075 84797075 single base substitution C T downstream_gene_variant MELA-AU 16 84797075 84797075 single base substitution C T intron_variant MELA-AU 16 84797075 84797075 single base substitution C T upstream_gene_variant MELA-AU 16 84797114 84797114 single base substitution T C downstream_gene_variant MELA-AU 16 84797114 84797114 single base substitution T C intron_variant MELA-AU 16 84797114 84797114 single base substitution T C upstream_gene_variant MELA-AU 16 84797813 84797813 single base substitution C T 3_prime_UTR_variant MELA-AU 16 84797813 84797813 single base substitution C T downstream_gene_variant MELA-AU 16 84797813 84797813 single base substitution C T intron_variant MELA-AU 16 84797813 84797813 single base substitution C T synonymous_variant T104T 312C>T MELA-AU 16 84797813 84797813 single base substitution C T synonymous_variant T592T 1776C>T MELA-AU 16 84797813 84797813 single base substitution C T synonymous_variant T596T 1788C>T MELA-AU 16 84797813 84797813 single base substitution C T upstream_gene_variant MELA-AU 16 84798027 84798027 single base substitution C T downstream_gene_variant MELA-AU 16 84798027 84798027 single base substitution C T intron_variant MELA-AU 16 84798027 84798027 single base substitution C T upstream_gene_variant MELA-AU 16 84798593 84798593 single base substitution T G downstream_gene_variant MELA-AU 16 84798593 84798593 single base substitution T G intron_variant MELA-AU 16 84798593 84798593 single base substitution T G upstream_gene_variant MELA-AU 16 84799184 84799184 single base substitution C T downstream_gene_variant MELA-AU 16 84799184 84799184 single base substitution C T intron_variant MELA-AU 16 84799184 84799184 single base substitution C T upstream_gene_variant MELA-AU 16 84799881 84799881 single base substitution C T downstream_gene_variant MELA-AU 16 84799881 84799881 single base substitution C T intron_variant MELA-AU 16 84799881 84799881 single base substitution C T upstream_gene_variant MELA-AU 16 84800491 84800491 single base substitution G A downstream_gene_variant MELA-AU 16 84800491 84800491 single base substitution G A intron_variant MELA-AU 16 84800491 84800491 single base substitution G A upstream_gene_variant MELA-AU 16 84800558 84800558 single base substitution C T downstream_gene_variant MELA-AU 16 84800558 84800558 single base substitution C T intron_variant MELA-AU 16 84800558 84800558 single base substitution C T upstream_gene_variant MELA-AU 16 84800643 84800643 single base substitution C T downstream_gene_variant MELA-AU 16 84800643 84800643 single base substitution C T intron_variant MELA-AU 16 84800643 84800643 single base substitution C T upstream_gene_variant MELA-AU 16 84800813 84800813 single base substitution C T downstream_gene_variant MELA-AU 16 84800813 84800813 single base substitution C T intron_variant MELA-AU 16 84800813 84800813 single base substitution C T upstream_gene_variant MELA-AU 16 84800937 84800937 single base substitution G A downstream_gene_variant MELA-AU 16 84800937 84800937 single base substitution G A intron_variant MELA-AU 16 84800937 84800937 single base substitution G A upstream_gene_variant MELA-AU 16 84801335 84801335 single base substitution T C downstream_gene_variant MELA-AU 16 84801335 84801335 single base substitution T C intron_variant MELA-AU 16 84801335 84801335 single base substitution T C upstream_gene_variant MELA-AU 16 84802244 84802244 single base substitution T G downstream_gene_variant MELA-AU 16 84802244 84802244 single base substitution T G intron_variant MELA-AU 16 84803790 84803790 single base substitution C T downstream_gene_variant MELA-AU 16 84803790 84803790 single base substitution C T intron_variant MELA-AU 16 84804229 84804229 single base substitution T C downstream_gene_variant MELA-AU 16 84804229 84804229 single base substitution T C intron_variant MELA-AU 16 84805721 84805721 single base substitution G A downstream_gene_variant MELA-AU 16 84805721 84805721 single base substitution G A intron_variant MELA-AU 16 84805813 84805813 single base substitution A G downstream_gene_variant MELA-AU 16 84805813 84805813 single base substitution A G intron_variant MELA-AU 16 84806182 84806182 single base substitution C T 3_prime_UTR_variant MELA-AU 16 84806182 84806182 single base substitution C T downstream_gene_variant MELA-AU 16 84806182 84806182 single base substitution C T intron_variant MELA-AU 16 84806182 84806182 single base substitution C T synonymous_variant L42L 126C>T MELA-AU 16 84806182 84806182 single base substitution C T synonymous_variant L678L 2034C>T MELA-AU 16 84806182 84806182 single base substitution C T synonymous_variant L682L 2046C>T MELA-AU 16 84806557 84806557 single base substitution C T downstream_gene_variant MELA-AU 16 84806557 84806557 single base substitution C T intron_variant MELA-AU 16 84806805 84806805 single base substitution A C downstream_gene_variant MELA-AU 16 84806805 84806805 single base substitution A C intron_variant MELA-AU 16 84807062 84807062 single base substitution C T intron_variant MELA-AU 16 84807110 84807110 single base substitution C T intron_variant MELA-AU 16 84807605 84807605 single base substitution C T intron_variant MELA-AU 16 84807621 84807621 single base substitution C G intron_variant MELA-AU 16 84807653 84807653 single base substitution C T intron_variant MELA-AU 16 84808008 84808008 single base substitution C T intron_variant MELA-AU 16 84808809 84808810 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 16 84808809 84808810 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 84808809 84808810 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T46I 137CC>TT MELA-AU 16 84808809 84808810 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained HR729H* MELA-AU 16 84808809 84808810 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained HR733H* MELA-AU 16 84809067 84809067 single base substitution C T intron_variant MELA-AU 16 84809180 84809180 single base substitution C T intron_variant MELA-AU 16 84809362 84809362 single base substitution C T intron_variant MELA-AU 16 84809615 84809615 single base substitution C T intron_variant MELA-AU 16 84809708 84809708 single base substitution C T intron_variant MELA-AU 16 84809939 84809939 single base substitution C T intron_variant MELA-AU 16 84810245 84810245 single base substitution C T intron_variant MELA-AU 16 84810417 84810417 single base substitution C T intron_variant MELA-AU 16 84810579 84810579 single base substitution C T intron_variant MELA-AU 16 84810881 84810881 single base substitution C T intron_variant MELA-AU 16 84811406 84811406 single base substitution C T intron_variant MELA-AU 16 84811494 84811494 single base substitution C T intron_variant MELA-AU 16 84811890 84811890 single base substitution C T intron_variant MELA-AU 16 84812873 84812873 single base substitution C T 3_prime_UTR_variant MELA-AU 16 84812873 84812873 single base substitution C T downstream_gene_variant MELA-AU 16 84813164 84813164 single base substitution T C 3_prime_UTR_variant MELA-AU 16 84813164 84813164 single base substitution T C downstream_gene_variant MELA-AU 16 84813206 84813206 single base substitution C T 3_prime_UTR_variant MELA-AU 16 84813206 84813206 single base substitution C T downstream_gene_variant MELA-AU 16 84813238 84813238 single base substitution G A 3_prime_UTR_variant MELA-AU 16 84813238 84813238 single base substitution G A downstream_gene_variant MELA-AU 16 84813565 84813565 single base substitution C T downstream_gene_variant MELA-AU 16 84813622 84813622 single base substitution C T downstream_gene_variant MELA-AU 16 84813727 84813727 single base substitution C T downstream_gene_variant MELA-AU 16 84814842 84814842 single base substitution C T downstream_gene_variant MELA-AU 16 84815093 84815093 single base substitution C T downstream_gene_variant MELA-AU 16 84815307 84815307 single base substitution G A downstream_gene_variant MELA-AU 16 84815488 84815488 single base substitution C T downstream_gene_variant MELA-AU 16 84815504 84815504 single base substitution C T downstream_gene_variant MELA-AU 16 84816024 84816024 single base substitution T A downstream_gene_variant MELA-AU 16 84816147 84816147 single base substitution C T downstream_gene_variant MELA-AU 16 84816283 84816283 single base substitution C T downstream_gene_variant MELA-AU 16 84816566 84816566 single base substitution C T downstream_gene_variant MELA-AU 16 84816804 84816804 single base substitution C T downstream_gene_variant MELA-AU 16 84816836 84816836 single base substitution T G downstream_gene_variant ORCA-IN 16 84730890 84730890 single base substitution T A upstream_gene_variant ORCA-IN 16 84743308 84743308 single base substitution C T downstream_gene_variant ORCA-IN 16 84743308 84743308 single base substitution C T intron_variant ORCA-IN 16 84779062 84779062 single base substitution C A 3_prime_UTR_variant ORCA-IN 16 84779062 84779062 single base substitution C A downstream_gene_variant ORCA-IN 16 84779062 84779062 single base substitution C A intron_variant ORCA-IN 16 84779062 84779062 single base substitution C A missense_variant D325E 975C>A ORCA-IN 16 84779062 84779062 single base substitution C A missense_variant D329E 987C>A ORCA-IN 16 84786195 84786195 single base substitution A T intron_variant ORCA-IN 16 84786304 84786304 single base substitution G T intron_variant ORCA-IN 16 84795090 84795090 single base substitution G A downstream_gene_variant ORCA-IN 16 84795090 84795090 single base substitution G A intron_variant ORCA-IN 16 84808694 84808694 single base substitution T C intron_variant ORCA-IN 16 84812277 84812277 single base substitution C G intron_variant ORCA-IN 16 84812935 84812935 single base substitution A T 3_prime_UTR_variant ORCA-IN 16 84812935 84812935 single base substitution A T downstream_gene_variant OV-AU 16 84732413 84732413 single base substitution G T upstream_gene_variant OV-AU 16 84734226 84734226 single base substitution G T intron_variant OV-AU 16 84734846 84734846 single base substitution C T intron_variant OV-AU 16 84740146 84740146 single base substitution T A intron_variant OV-AU 16 84761915 84761915 single base substitution A C intron_variant OV-AU 16 84761915 84761915 single base substitution A C upstream_gene_variant OV-AU 16 84771449 84771449 single base substitution C A downstream_gene_variant OV-AU 16 84771449 84771449 single base substitution C A intron_variant OV-AU 16 84771891 84771891 single base substitution C A intron_variant OV-AU 16 84776364 84776364 single base substitution C G downstream_gene_variant OV-AU 16 84776364 84776364 single base substitution C G intron_variant OV-AU 16 84779814 84779814 single base substitution T A downstream_gene_variant OV-AU 16 84779814 84779814 single base substitution T A intron_variant OV-AU 16 84785673 84785673 single base substitution T A intron_variant OV-AU 16 84785834 84785834 single base substitution G C intron_variant OV-AU 16 84802967 84802967 single base substitution G A downstream_gene_variant OV-AU 16 84802967 84802967 single base substitution G A intron_variant OV-AU 16 84804105 84804105 single base substitution G A downstream_gene_variant OV-AU 16 84804105 84804105 single base substitution G A intron_variant OV-AU 16 84811008 84811008 single base substitution G T intron_variant PACA-AU 16 84732205 84732206 deletion of <=200bp TC - upstream_gene_variant PACA-AU 16 84737005 84737005 single base substitution A G intron_variant PACA-AU 16 84749144 84749144 single base substitution G T intron_variant PACA-AU 16 84749491 84749491 single base substitution G T intron_variant PACA-AU 16 84759094 84759094 single base substitution C T intron_variant PACA-AU 16 84765442 84765442 single base substitution T C intron_variant PACA-AU 16 84765442 84765442 single base substitution T C upstream_gene_variant PACA-AU 16 84767801 84767801 single base substitution C T downstream_gene_variant PACA-AU 16 84767801 84767801 single base substitution C T intron_variant PACA-AU 16 84768827 84768827 single base substitution G A downstream_gene_variant PACA-AU 16 84768827 84768827 single base substitution G A intron_variant PACA-AU 16 84775672 84775672 deletion of <=200bp T - downstream_gene_variant PACA-AU 16 84775672 84775672 deletion of <=200bp T - intron_variant PACA-AU 16 84784488 84784488 single base substitution A G intron_variant PACA-AU 16 84786411 84786411 single base substitution G C intron_variant PACA-AU 16 84789198 84789198 single base substitution C T intron_variant PACA-AU 16 84789198 84789198 single base substitution C T upstream_gene_variant PACA-AU 16 84789562 84789562 single base substitution G A intron_variant PACA-AU 16 84789562 84789562 single base substitution G A upstream_gene_variant PACA-AU 16 84789586 84789586 single base substitution G A intron_variant PACA-AU 16 84789586 84789586 single base substitution G A upstream_gene_variant PACA-AU 16 84790123 84790123 single base substitution C T intron_variant PACA-AU 16 84790123 84790123 single base substitution C T upstream_gene_variant PACA-AU 16 84794102 84794102 single base substitution C T downstream_gene_variant PACA-AU 16 84794102 84794102 single base substitution C T intron_variant PACA-AU 16 84796790 84796790 single base substitution C T downstream_gene_variant PACA-AU 16 84796790 84796790 single base substitution C T intron_variant PACA-AU 16 84805674 84805674 single base substitution C T downstream_gene_variant PACA-AU 16 84805674 84805674 single base substitution C T intron_variant PACA-AU 16 84806712 84806712 single base substitution C T downstream_gene_variant PACA-AU 16 84806712 84806712 single base substitution C T intron_variant PACA-AU 16 84812686 84812686 single base substitution T C 3_prime_UTR_variant PACA-AU 16 84812686 84812686 single base substitution T C downstream_gene_variant PACA-AU 16 84812686 84812686 single base substitution T C stop_lost *799Q 2395T>C PACA-AU 16 84812686 84812686 single base substitution T C stop_lost *803Q 2407T>C PACA-AU 16 84813635 84813635 single base substitution G A downstream_gene_variant PACA-AU 16 84817647 84817647 single base substitution C T downstream_gene_variant PACA-CA 16 84742279 84742279 insertion of <=200bp - A intron_variant PACA-CA 16 84749251 84749251 single base substitution T A intron_variant PACA-CA 16 84751597 84751597 single base substitution A G intron_variant PACA-CA 16 84754750 84754750 single base substitution G T intron_variant PACA-CA 16 84757891 84757891 single base substitution A G intron_variant PACA-CA 16 84763771 84763771 single base substitution G A intron_variant PACA-CA 16 84763771 84763771 single base substitution G A upstream_gene_variant PACA-CA 16 84764175 84764175 single base substitution T A intron_variant PACA-CA 16 84764175 84764175 single base substitution T A upstream_gene_variant PACA-CA 16 84766065 84766065 single base substitution C T intron_variant PACA-CA 16 84766065 84766065 single base substitution C T upstream_gene_variant PACA-CA 16 84770814 84770814 single base substitution C T downstream_gene_variant PACA-CA 16 84770814 84770814 single base substitution C T intron_variant PACA-CA 16 84771931 84771931 single base substitution C G intron_variant PACA-CA 16 84782251 84782251 single base substitution A G downstream_gene_variant PACA-CA 16 84782251 84782251 single base substitution A G intron_variant PACA-CA 16 84782659 84782659 single base substitution G A downstream_gene_variant PACA-CA 16 84782659 84782659 single base substitution G A intron_variant PACA-CA 16 84782954 84782954 single base substitution A C downstream_gene_variant PACA-CA 16 84782954 84782954 single base substitution A C intron_variant PACA-CA 16 84783968 84783968 single base substitution G A intron_variant PACA-CA 16 84785567 84785567 single base substitution G T intron_variant PACA-CA 16 84785672 84785672 single base substitution G A intron_variant PACA-CA 16 84786983 84786983 single base substitution C A intron_variant PACA-CA 16 84789863 84789863 single base substitution G C intron_variant PACA-CA 16 84789863 84789863 single base substitution G C upstream_gene_variant PACA-CA 16 84790059 84790059 single base substitution C T intron_variant PACA-CA 16 84790059 84790059 single base substitution C T upstream_gene_variant PACA-CA 16 84793429 84793429 single base substitution C T intron_variant PACA-CA 16 84793429 84793429 single base substitution C T upstream_gene_variant PACA-CA 16 84795943 84795943 single base substitution C T downstream_gene_variant PACA-CA 16 84795943 84795943 single base substitution C T intron_variant PACA-CA 16 84800038 84800038 single base substitution C T downstream_gene_variant PACA-CA 16 84800038 84800038 single base substitution C T intron_variant PACA-CA 16 84800038 84800038 single base substitution C T upstream_gene_variant PACA-CA 16 84800686 84800686 single base substitution A G downstream_gene_variant PACA-CA 16 84800686 84800686 single base substitution A G intron_variant PACA-CA 16 84800686 84800686 single base substitution A G upstream_gene_variant PACA-CA 16 84803550 84803550 single base substitution G T downstream_gene_variant PACA-CA 16 84803550 84803550 single base substitution G T intron_variant PACA-CA 16 84805815 84805815 single base substitution G A downstream_gene_variant PACA-CA 16 84805815 84805815 single base substitution G A intron_variant PACA-CA 16 84811498 84811498 single base substitution G A intron_variant PACA-CA 16 84812669 84812669 single base substitution G A 3_prime_UTR_variant PACA-CA 16 84812669 84812669 single base substitution G A downstream_gene_variant PACA-CA 16 84812669 84812669 single base substitution G A missense_variant R793H 2378G>A PACA-CA 16 84812669 84812669 single base substitution G A missense_variant R797H 2390G>A PACA-CA 16 84812732 84812732 single base substitution A T 3_prime_UTR_variant PACA-CA 16 84812732 84812732 single base substitution A T downstream_gene_variant PACA-CA 16 84817371 84817371 single base substitution G T downstream_gene_variant PAEN-AU 16 84732041 84732041 single base substitution C T upstream_gene_variant PAEN-AU 16 84733271 84733271 single base substitution A C upstream_gene_variant PAEN-AU 16 84793218 84793218 single base substitution C T intron_variant PAEN-AU 16 84793218 84793218 single base substitution C T upstream_gene_variant PAEN-AU 16 84808097 84808097 single base substitution G T intron_variant PAEN-IT 16 84734027 84734027 single base substitution C A intron_variant PAEN-IT 16 84746919 84746919 single base substitution G A downstream_gene_variant PAEN-IT 16 84746919 84746919 single base substitution G A intron_variant PBCA-DE 16 84735626 84735626 single base substitution A T intron_variant PBCA-DE 16 84735630 84735630 single base substitution A T intron_variant PBCA-DE 16 84737763 84737763 single base substitution G A intron_variant PBCA-DE 16 84756898 84756898 single base substitution A G intron_variant PBCA-DE 16 84782621 84782621 single base substitution C A downstream_gene_variant PBCA-DE 16 84782621 84782621 single base substitution C A intron_variant PBCA-DE 16 84809906 84809906 single base substitution A G intron_variant PBCA-DE 16 84811698 84811699 deletion of <=200bp TG - intron_variant PBCA-DE 16 84816297 84816297 single base substitution A G downstream_gene_variant PBCA-DE 16 84816417 84816417 single base substitution C T downstream_gene_variant PBCA-DE 16 84817496 84817496 single base substitution C G downstream_gene_variant PRAD-CA 16 84768722 84768722 single base substitution C T downstream_gene_variant PRAD-CA 16 84768722 84768722 single base substitution C T intron_variant PRAD-CA 16 84779467 84779467 single base substitution T G downstream_gene_variant PRAD-CA 16 84779467 84779467 single base substitution T G intron_variant PRAD-CA 16 84806920 84806920 single base substitution G T intron_variant PRAD-UK 16 84744794 84744794 single base substitution T A downstream_gene_variant PRAD-UK 16 84744794 84744794 single base substitution T A intron_variant PRAD-UK 16 84747314 84747314 single base substitution C A downstream_gene_variant PRAD-UK 16 84747314 84747314 single base substitution C A intron_variant PRAD-UK 16 84783246 84783246 single base substitution T G downstream_gene_variant PRAD-UK 16 84783246 84783246 single base substitution T G intron_variant READ-US 16 84767056 84767056 single base substitution T G downstream_gene_variant READ-US 16 84767056 84767056 single base substitution T G exon_variant READ-US 16 84767056 84767056 single base substitution T G intron_variant READ-US 16 84767056 84767056 single base substitution T G missense_variant F13V 37T>G READ-US 16 84767056 84767056 single base substitution T G missense_variant F17V 49T>G READ-US 16 84767056 84767056 single base substitution T G missense_variant F7V 19T>G READ-US 16 84808796 84808796 single base substitution A C 3_prime_UTR_variant READ-US 16 84808796 84808796 single base substitution A C intron_variant READ-US 16 84808796 84808796 single base substitution A C missense_variant I42L 124A>C READ-US 16 84808796 84808796 single base substitution A C missense_variant N725T 2174A>C READ-US 16 84808796 84808796 single base substitution A C missense_variant N729T 2186A>C READ-US 16 84812650 84812650 single base substitution G A 3_prime_UTR_variant READ-US 16 84812650 84812650 single base substitution G A downstream_gene_variant READ-US 16 84812650 84812650 single base substitution G A missense_variant A787T 2359G>A READ-US 16 84812650 84812650 single base substitution G A missense_variant A791T 2371G>A RECA-EU 16 84732278 84732278 single base substitution C T upstream_gene_variant RECA-EU 16 84738783 84738783 single base substitution G C intron_variant RECA-EU 16 84742946 84742946 single base substitution G C downstream_gene_variant RECA-EU 16 84742946 84742946 single base substitution G C intron_variant RECA-EU 16 84743876 84743876 single base substitution A G downstream_gene_variant RECA-EU 16 84743876 84743876 single base substitution A G intron_variant RECA-EU 16 84756037 84756037 single base substitution G C intron_variant RECA-EU 16 84759886 84759886 single base substitution T G intron_variant RECA-EU 16 84768607 84768607 single base substitution T C downstream_gene_variant RECA-EU 16 84768607 84768607 single base substitution T C intron_variant RECA-EU 16 84769665 84769665 single base substitution G T downstream_gene_variant RECA-EU 16 84769665 84769665 single base substitution G T intron_variant RECA-EU 16 84774896 84774896 single base substitution A T downstream_gene_variant RECA-EU 16 84774896 84774896 single base substitution A T intron_variant RECA-EU 16 84774975 84774975 single base substitution C A downstream_gene_variant RECA-EU 16 84774975 84774975 single base substitution C A intron_variant RECA-EU 16 84782099 84782099 single base substitution C A downstream_gene_variant RECA-EU 16 84782099 84782099 single base substitution C A intron_variant RECA-EU 16 84788171 84788171 single base substitution T G intron_variant RECA-EU 16 84788171 84788171 single base substitution T G upstream_gene_variant RECA-EU 16 84790188 84790188 single base substitution G A intron_variant RECA-EU 16 84790188 84790188 single base substitution G A upstream_gene_variant RECA-EU 16 84791543 84791543 single base substitution T C intron_variant RECA-EU 16 84791543 84791543 single base substitution T C upstream_gene_variant RECA-EU 16 84804755 84804755 single base substitution A T downstream_gene_variant RECA-EU 16 84804755 84804755 single base substitution A T intron_variant RECA-EU 16 84809471 84809471 single base substitution C T intron_variant RECA-EU 16 84811349 84811349 single base substitution A G intron_variant RECA-EU 16 84812498 84812498 single base substitution C T intron_variant RECA-EU 16 84816105 84816105 single base substitution T C downstream_gene_variant SKCA-BR 16 84730738 84730738 single base substitution C A upstream_gene_variant SKCA-BR 16 84731032 84731032 single base substitution G A upstream_gene_variant SKCA-BR 16 84732040 84732040 single base substitution T G upstream_gene_variant SKCA-BR 16 84732202 84732202 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 16 84732251 84732251 single base substitution G A upstream_gene_variant SKCA-BR 16 84733646 84733646 single base substitution A G 5_prime_UTR_variant SKCA-BR 16 84733646 84733646 single base substitution A G exon_variant SKCA-BR 16 84733829 84733829 single base substitution A G intron_variant SKCA-BR 16 84734501 84734501 single base substitution A C intron_variant SKCA-BR 16 84734521 84734521 single base substitution T C intron_variant SKCA-BR 16 84734948 84734948 single base substitution C T intron_variant SKCA-BR 16 84745435 84745435 single base substitution C T downstream_gene_variant SKCA-BR 16 84745435 84745435 single base substitution C T intron_variant SKCA-BR 16 84747738 84747738 single base substitution T G downstream_gene_variant SKCA-BR 16 84747738 84747738 single base substitution T G intron_variant SKCA-BR 16 84749243 84749243 insertion of <=200bp - CT intron_variant SKCA-BR 16 84751490 84751490 single base substitution A G intron_variant SKCA-BR 16 84755129 84755129 single base substitution C T intron_variant SKCA-BR 16 84759090 84759090 single base substitution T G intron_variant SKCA-BR 16 84767246 84767246 single base substitution C T downstream_gene_variant SKCA-BR 16 84767246 84767246 single base substitution C T intron_variant SKCA-BR 16 84768269 84768269 single base substitution C T downstream_gene_variant SKCA-BR 16 84768269 84768269 single base substitution C T intron_variant SKCA-BR 16 84768719 84768719 single base substitution A C downstream_gene_variant SKCA-BR 16 84768719 84768719 single base substitution A C intron_variant SKCA-BR 16 84769144 84769144 single base substitution A T downstream_gene_variant SKCA-BR 16 84769144 84769144 single base substitution A T intron_variant SKCA-BR 16 84772668 84772668 insertion of <=200bp - CTTT intron_variant SKCA-BR 16 84774606 84774606 single base substitution C T downstream_gene_variant SKCA-BR 16 84774606 84774606 single base substitution C T intron_variant SKCA-BR 16 84780418 84780418 single base substitution G A downstream_gene_variant SKCA-BR 16 84780418 84780418 single base substitution G A intron_variant SKCA-BR 16 84783130 84783130 single base substitution G T downstream_gene_variant SKCA-BR 16 84783130 84783130 single base substitution G T intron_variant SKCA-BR 16 84783180 84783180 insertion of <=200bp - TAA downstream_gene_variant SKCA-BR 16 84783180 84783180 insertion of <=200bp - TAA intron_variant SKCA-BR 16 84784010 84784010 insertion of <=200bp - CAA intron_variant SKCA-BR 16 84784010 84784011 deletion of <=200bp CA - intron_variant SKCA-BR 16 84794750 84794750 single base substitution G A downstream_gene_variant SKCA-BR 16 84794750 84794750 single base substitution G A intron_variant SKCA-BR 16 84795828 84795828 single base substitution C T downstream_gene_variant SKCA-BR 16 84795828 84795828 single base substitution C T intron_variant SKCA-BR 16 84800865 84800865 single base substitution C T downstream_gene_variant SKCA-BR 16 84800865 84800865 single base substitution C T intron_variant SKCA-BR 16 84800865 84800865 single base substitution C T upstream_gene_variant SKCA-BR 16 84801396 84801396 single base substitution A T downstream_gene_variant SKCA-BR 16 84801396 84801396 single base substitution A T intron_variant SKCA-BR 16 84801396 84801396 single base substitution A T upstream_gene_variant SKCA-BR 16 84801697 84801697 single base substitution A T downstream_gene_variant SKCA-BR 16 84801697 84801697 single base substitution A T intron_variant SKCA-BR 16 84801697 84801697 single base substitution A T upstream_gene_variant SKCA-BR 16 84804374 84804375 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 16 84804374 84804375 deletion of <=200bp TC - intron_variant SKCA-BR 16 84804378 84804378 single base substitution C A downstream_gene_variant SKCA-BR 16 84804378 84804378 single base substitution C A intron_variant SKCA-BR 16 84809462 84809462 single base substitution C T intron_variant SKCA-BR 16 84810342 84810342 single base substitution T C intron_variant SKCA-BR 16 84810968 84810968 single base substitution T G intron_variant SKCA-BR 16 84812309 84812309 single base substitution G T intron_variant SKCA-BR 16 84816089 84816089 insertion of <=200bp - TTC downstream_gene_variant SKCA-BR 16 84817285 84817285 single base substitution C T downstream_gene_variant SKCM-US 16 84767063 84767063 single base substitution C T downstream_gene_variant SKCM-US 16 84767063 84767063 single base substitution C T exon_variant SKCM-US 16 84767063 84767063 single base substitution C T intron_variant SKCM-US 16 84767063 84767063 single base substitution C T missense_variant P15L 44C>T SKCM-US 16 84767063 84767063 single base substitution C T missense_variant P19L 56C>T SKCM-US 16 84767063 84767063 single base substitution C T missense_variant P9L 26C>T SKCM-US 16 84778340 84778340 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84778340 84778340 single base substitution C T downstream_gene_variant SKCM-US 16 84778340 84778340 single base substitution C T exon_variant SKCM-US 16 84778340 84778340 single base substitution C T intron_variant SKCM-US 16 84778340 84778340 single base substitution C T missense_variant P79S 235C>T SKCM-US 16 84778340 84778340 single base substitution C T missense_variant P85S 253C>T SKCM-US 16 84778340 84778340 single base substitution C T missense_variant P89S 265C>T SKCM-US 16 84778389 84778389 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84778389 84778389 single base substitution C T downstream_gene_variant SKCM-US 16 84778389 84778389 single base substitution C T exon_variant SKCM-US 16 84778389 84778389 single base substitution C T intron_variant SKCM-US 16 84778389 84778389 single base substitution C T missense_variant P101L 302C>T SKCM-US 16 84778389 84778389 single base substitution C T missense_variant P105L 314C>T SKCM-US 16 84778389 84778389 single base substitution C T missense_variant P95L 284C>T SKCM-US 16 84778424 84778424 single base substitution A T 3_prime_UTR_variant SKCM-US 16 84778424 84778424 single base substitution A T downstream_gene_variant SKCM-US 16 84778424 84778424 single base substitution A T exon_variant SKCM-US 16 84778424 84778424 single base substitution A T intron_variant SKCM-US 16 84778424 84778424 single base substitution A T missense_variant I107F 319A>T SKCM-US 16 84778424 84778424 single base substitution A T missense_variant I113F 337A>T SKCM-US 16 84778424 84778424 single base substitution A T missense_variant I117F 349A>T SKCM-US 16 84778852 84778852 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84778852 84778852 single base substitution C T downstream_gene_variant SKCM-US 16 84778852 84778852 single base substitution C T intron_variant SKCM-US 16 84778852 84778852 single base substitution C T synonymous_variant F255F 765C>T SKCM-US 16 84778852 84778852 single base substitution C T synonymous_variant F259F 777C>T SKCM-US 16 84778881 84778881 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84778881 84778881 single base substitution C T downstream_gene_variant SKCM-US 16 84778881 84778881 single base substitution C T intron_variant SKCM-US 16 84778881 84778881 single base substitution C T missense_variant S265L 794C>T SKCM-US 16 84778881 84778881 single base substitution C T missense_variant S269L 806C>T SKCM-US 16 84778965 84778965 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84778965 84778965 single base substitution C T downstream_gene_variant SKCM-US 16 84778965 84778965 single base substitution C T intron_variant SKCM-US 16 84778965 84778965 single base substitution C T missense_variant S293L 878C>T SKCM-US 16 84778965 84778965 single base substitution C T missense_variant S297L 890C>T SKCM-US 16 84779250 84779250 deletion of <=200bp C - 3_prime_UTR_variant SKCM-US 16 84779250 84779250 deletion of <=200bp C - downstream_gene_variant SKCM-US 16 84779250 84779250 deletion of <=200bp C - frameshift_variant S13 SKCM-US 16 84779250 84779250 deletion of <=200bp C - frameshift_variant S388 SKCM-US 16 84779250 84779250 deletion of <=200bp C - frameshift_variant S392 SKCM-US 16 84779250 84779250 deletion of <=200bp C - intron_variant SKCM-US 16 84792359 84792359 single base substitution G A 3_prime_UTR_variant SKCM-US 16 84792359 84792359 single base substitution G A intron_variant SKCM-US 16 84792359 84792359 single base substitution G A synonymous_variant V35V 105G>A SKCM-US 16 84792359 84792359 single base substitution G A synonymous_variant V410V 1230G>A SKCM-US 16 84792359 84792359 single base substitution G A synonymous_variant V414V 1242G>A SKCM-US 16 84792359 84792359 single base substitution G A synonymous_variant V63V 189G>A SKCM-US 16 84792359 84792359 single base substitution G A upstream_gene_variant SKCM-US 16 84796646 84796646 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84796646 84796646 single base substitution C T downstream_gene_variant SKCM-US 16 84796646 84796646 single base substitution C T exon_variant SKCM-US 16 84796646 84796646 single base substitution C T missense_variant H161Y 481C>T SKCM-US 16 84796646 84796646 single base substitution C T missense_variant H48Y 142C>T SKCM-US 16 84796646 84796646 single base substitution C T missense_variant H536Y 1606C>T SKCM-US 16 84796646 84796646 single base substitution C T missense_variant H540Y 1618C>T SKCM-US 16 84796689 84796689 single base substitution A G 3_prime_UTR_variant SKCM-US 16 84796689 84796689 single base substitution A G downstream_gene_variant SKCM-US 16 84796689 84796689 single base substitution A G exon_variant SKCM-US 16 84796689 84796689 single base substitution A G missense_variant N175S 524A>G SKCM-US 16 84796689 84796689 single base substitution A G missense_variant N550S 1649A>G SKCM-US 16 84796689 84796689 single base substitution A G missense_variant N554S 1661A>G SKCM-US 16 84796689 84796689 single base substitution A G missense_variant N62S 185A>G SKCM-US 16 84797807 84797807 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84797807 84797807 single base substitution C T downstream_gene_variant SKCM-US 16 84797807 84797807 single base substitution C T intron_variant SKCM-US 16 84797807 84797807 single base substitution C T synonymous_variant S102S 306C>T SKCM-US 16 84797807 84797807 single base substitution C T synonymous_variant S590S 1770C>T SKCM-US 16 84797807 84797807 single base substitution C T synonymous_variant S594S 1782C>T SKCM-US 16 84797807 84797807 single base substitution C T upstream_gene_variant SKCM-US 16 84801964 84801964 single base substitution G A downstream_gene_variant SKCM-US 16 84801964 84801964 single base substitution G A splice_region_variant SKCM-US 16 84806182 84806182 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84806182 84806182 single base substitution C T downstream_gene_variant SKCM-US 16 84806182 84806182 single base substitution C T intron_variant SKCM-US 16 84806182 84806182 single base substitution C T synonymous_variant L42L 126C>T SKCM-US 16 84806182 84806182 single base substitution C T synonymous_variant L678L 2034C>T SKCM-US 16 84806182 84806182 single base substitution C T synonymous_variant L682L 2046C>T SKCM-US 16 84806183 84806183 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84806183 84806183 single base substitution C T downstream_gene_variant SKCM-US 16 84806183 84806183 single base substitution C T intron_variant SKCM-US 16 84806183 84806183 single base substitution C T missense_variant P43S 127C>T SKCM-US 16 84806183 84806183 single base substitution C T missense_variant P679S 2035C>T SKCM-US 16 84806183 84806183 single base substitution C T missense_variant P683S 2047C>T SKCM-US 16 84808815 84808815 single base substitution C T 3_prime_UTR_variant SKCM-US 16 84808815 84808815 single base substitution C T intron_variant SKCM-US 16 84808815 84808815 single base substitution C T missense_variant P48L 143C>T SKCM-US 16 84808815 84808815 single base substitution C T synonymous_variant T731T 2193C>T SKCM-US 16 84808815 84808815 single base substitution C T synonymous_variant T735T 2205C>T STAD-US 16 84778357 84778357 single base substitution T C 3_prime_UTR_variant STAD-US 16 84778357 84778357 single base substitution T C downstream_gene_variant STAD-US 16 84778357 84778357 single base substitution T C exon_variant STAD-US 16 84778357 84778357 single base substitution T C intron_variant STAD-US 16 84778357 84778357 single base substitution T C synonymous_variant F84F 252T>C STAD-US 16 84778357 84778357 single base substitution T C synonymous_variant F90F 270T>C STAD-US 16 84778357 84778357 single base substitution T C synonymous_variant F94F 282T>C STAD-US 16 84778544 84778544 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 16 84778544 84778544 deletion of <=200bp A - downstream_gene_variant STAD-US 16 84778544 84778544 deletion of <=200bp A - exon_variant STAD-US 16 84778544 84778544 deletion of <=200bp A - frameshift_variant K153 STAD-US 16 84778544 84778544 deletion of <=200bp A - frameshift_variant K157 STAD-US 16 84778544 84778544 deletion of <=200bp A - intron_variant STAD-US 16 84778843 84778843 single base substitution G T 3_prime_UTR_variant STAD-US 16 84778843 84778843 single base substitution G T downstream_gene_variant STAD-US 16 84778843 84778843 single base substitution G T intron_variant STAD-US 16 84778843 84778843 single base substitution G T missense_variant Q252H 756G>T STAD-US 16 84778843 84778843 single base substitution G T missense_variant Q256H 768G>T STAD-US 16 84792352 84792352 single base substitution A C 3_prime_UTR_variant STAD-US 16 84792352 84792352 single base substitution A C intron_variant STAD-US 16 84792352 84792352 single base substitution A C missense_variant K33T 98A>C STAD-US 16 84792352 84792352 single base substitution A C missense_variant K408T 1223A>C STAD-US 16 84792352 84792352 single base substitution A C missense_variant K412T 1235A>C STAD-US 16 84792352 84792352 single base substitution A C missense_variant K61T 182A>C STAD-US 16 84792352 84792352 single base substitution A C upstream_gene_variant STAD-US 16 84797843 84797843 single base substitution C T 3_prime_UTR_variant STAD-US 16 84797843 84797843 single base substitution C T downstream_gene_variant STAD-US 16 84797843 84797843 single base substitution C T intron_variant STAD-US 16 84797843 84797843 single base substitution C T synonymous_variant I114I 342C>T STAD-US 16 84797843 84797843 single base substitution C T synonymous_variant I602I 1806C>T STAD-US 16 84797843 84797843 single base substitution C T synonymous_variant I606I 1818C>T STAD-US 16 84797843 84797843 single base substitution C T upstream_gene_variant STAD-US 16 84806174 84806174 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 16 84806174 84806174 insertion of <=200bp - A downstream_gene_variant STAD-US 16 84806174 84806174 insertion of <=200bp - A frameshift_variant E40R? STAD-US 16 84806174 84806174 insertion of <=200bp - A frameshift_variant E676R? STAD-US 16 84806174 84806174 insertion of <=200bp - A frameshift_variant E680R? STAD-US 16 84806174 84806174 insertion of <=200bp - A intron_variant STAD-US 16 84806175 84806175 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 16 84806175 84806175 insertion of <=200bp - A downstream_gene_variant STAD-US 16 84806175 84806175 insertion of <=200bp - A frameshift_variant E40E? STAD-US 16 84806175 84806175 insertion of <=200bp - A frameshift_variant E676E? STAD-US 16 84806175 84806175 insertion of <=200bp - A frameshift_variant E680E? STAD-US 16 84806175 84806175 insertion of <=200bp - A intron_variant STAD-US 16 84806187 84806187 single base substitution C A 3_prime_UTR_variant STAD-US 16 84806187 84806187 single base substitution C A downstream_gene_variant STAD-US 16 84806187 84806187 single base substitution C A intron_variant STAD-US 16 84806187 84806187 single base substitution C A missense_variant P44H 131C>A STAD-US 16 84806187 84806187 single base substitution C A missense_variant P680H 2039C>A STAD-US 16 84806187 84806187 single base substitution C A missense_variant P684H 2051C>A STAD-US 16 84806195 84806195 single base substitution G A 3_prime_UTR_variant STAD-US 16 84806195 84806195 single base substitution G A downstream_gene_variant STAD-US 16 84806195 84806195 single base substitution G A intron_variant STAD-US 16 84806195 84806195 single base substitution G A missense_variant V47M 139G>A STAD-US 16 84806195 84806195 single base substitution G A missense_variant V683M 2047G>A STAD-US 16 84806195 84806195 single base substitution G A missense_variant V687M 2059G>A STAD-US 16 84812550 84812550 single base substitution C T 3_prime_UTR_variant STAD-US 16 84812550 84812550 single base substitution C T missense_variant T70M 209C>T STAD-US 16 84812550 84812550 single base substitution C T synonymous_variant D753D 2259C>T STAD-US 16 84812550 84812550 single base substitution C T synonymous_variant D757D 2271C>T STAD-US 16 84812550 84812550 single base substitution C T synonymous_variant D95D 285C>T STAD-US 16 84812581 84812581 single base substitution C T 3_prime_UTR_variant STAD-US 16 84812581 84812581 single base substitution C T missense_variant R106C 316C>T STAD-US 16 84812581 84812581 single base substitution C T missense_variant R764C 2290C>T STAD-US 16 84812581 84812581 single base substitution C T missense_variant R768C 2302C>T THCA-SA 16 84778766 84778766 single base substitution C T 3_prime_UTR_variant THCA-SA 16 84778766 84778766 single base substitution C T downstream_gene_variant THCA-SA 16 84778766 84778766 single base substitution C T exon_variant THCA-SA 16 84778766 84778766 single base substitution C T intron_variant THCA-SA 16 84778766 84778766 single base substitution C T missense_variant P227S 679C>T THCA-SA 16 84778766 84778766 single base substitution C T missense_variant P231S 691C>T THCA-SA 16 84813400 84813400 single base substitution T C 3_prime_UTR_variant THCA-SA 16 84813400 84813400 single base substitution T C downstream_gene_variant THCA-US 16 84792342 84792342 single base substitution C G 3_prime_UTR_variant THCA-US 16 84792342 84792342 single base substitution C G intron_variant THCA-US 16 84792342 84792342 single base substitution C G missense_variant L30V 88C>G THCA-US 16 84792342 84792342 single base substitution C G missense_variant L405V 1213C>G THCA-US 16 84792342 84792342 single base substitution C G missense_variant L409V 1225C>G THCA-US 16 84792342 84792342 single base substitution C G missense_variant L58V 172C>G THCA-US 16 84792342 84792342 single base substitution C G upstream_gene_variant UCEC-US 16 84767096 84767096 single base substitution G A 3_prime_UTR_variant UCEC-US 16 84767096 84767096 single base substitution G A downstream_gene_variant UCEC-US 16 84767096 84767096 single base substitution G A exon_variant UCEC-US 16 84767096 84767096 single base substitution G A intron_variant UCEC-US 16 84767096 84767096 single base substitution G A missense_variant R20Q 59G>A UCEC-US 16 84767096 84767096 single base substitution G A missense_variant R26Q 77G>A UCEC-US 16 84767096 84767096 single base substitution G A missense_variant R30Q 89G>A UCEC-US 16 84773960 84773960 single base substitution G A 3_prime_UTR_variant UCEC-US 16 84773960 84773960 single base substitution G A downstream_gene_variant UCEC-US 16 84773960 84773960 single base substitution G A exon_variant UCEC-US 16 84773960 84773960 single base substitution G A intron_variant UCEC-US 16 84773960 84773960 single base substitution G A missense_variant D40N 118G>A UCEC-US 16 84773960 84773960 single base substitution G A missense_variant D46N 136G>A UCEC-US 16 84773960 84773960 single base substitution G A missense_variant D50N 148G>A UCEC-US 16 84778270 84778270 single base substitution C T 3_prime_UTR_variant UCEC-US 16 84778270 84778270 single base substitution C T downstream_gene_variant UCEC-US 16 84778270 84778270 single base substitution C T exon_variant UCEC-US 16 84778270 84778270 single base substitution C T intron_variant UCEC-US 16 84778270 84778270 single base substitution C T synonymous_variant V55V 165C>T UCEC-US 16 84778270 84778270 single base substitution C T synonymous_variant V61V 183C>T UCEC-US 16 84778270 84778270 single base substitution C T synonymous_variant V65V 195C>T UCEC-US 16 84778335 84778335 single base substitution T C 3_prime_UTR_variant UCEC-US 16 84778335 84778335 single base substitution T C downstream_gene_variant UCEC-US 16 84778335 84778335 single base substitution T C exon_variant UCEC-US 16 84778335 84778335 single base substitution T C intron_variant UCEC-US 16 84778335 84778335 single base substitution T C missense_variant L77P 230T>C UCEC-US 16 84778335 84778335 single base substitution T C missense_variant L83P 248T>C UCEC-US 16 84778335 84778335 single base substitution T C missense_variant L87P 260T>C UCEC-US 16 84778938 84778938 single base substitution T C 3_prime_UTR_variant UCEC-US 16 84778938 84778938 single base substitution T C downstream_gene_variant UCEC-US 16 84778938 84778938 single base substitution T C intron_variant UCEC-US 16 84778938 84778938 single base substitution T C missense_variant V284A 851T>C UCEC-US 16 84778938 84778938 single base substitution T C missense_variant V288A 863T>C UCEC-US 16 84778963 84778963 single base substitution C A 3_prime_UTR_variant UCEC-US 16 84778963 84778963 single base substitution C A downstream_gene_variant UCEC-US 16 84778963 84778963 single base substitution C A intron_variant UCEC-US 16 84778963 84778963 single base substitution C A synonymous_variant S292S 876C>A UCEC-US 16 84778963 84778963 single base substitution C A synonymous_variant S296S 888C>A UCEC-US 16 84779007 84779007 single base substitution C T 3_prime_UTR_variant UCEC-US 16 84779007 84779007 single base substitution C T downstream_gene_variant UCEC-US 16 84779007 84779007 single base substitution C T intron_variant UCEC-US 16 84779007 84779007 single base substitution C T missense_variant T307M 920C>T UCEC-US 16 84779007 84779007 single base substitution C T missense_variant T311M 932C>T UCEC-US 16 84793794 84793794 single base substitution C T 3_prime_UTR_variant UCEC-US 16 84793794 84793794 single base substitution C T exon_variant UCEC-US 16 84793794 84793794 single base substitution C T intron_variant UCEC-US 16 84793794 84793794 single base substitution C T synonymous_variant I114I 342C>T UCEC-US 16 84793794 84793794 single base substitution C T synonymous_variant I142I 426C>T UCEC-US 16 84793794 84793794 single base substitution C T synonymous_variant I489I 1467C>T UCEC-US 16 84793794 84793794 single base substitution C T synonymous_variant I493I 1479C>T UCEC-US 16 84796613 84796613 single base substitution G A 3_prime_UTR_variant UCEC-US 16 84796613 84796613 single base substitution G A downstream_gene_variant UCEC-US 16 84796613 84796613 single base substitution G A exon_variant UCEC-US 16 84796613 84796613 single base substitution G A missense_variant E150K 448G>A UCEC-US 16 84796613 84796613 single base substitution G A missense_variant E37K 109G>A UCEC-US 16 84796613 84796613 single base substitution G A missense_variant E525K 1573G>A UCEC-US 16 84796613 84796613 single base substitution G A missense_variant E529K 1585G>A UCEC-US 16 84797808 84797808 single base substitution G A 3_prime_UTR_variant UCEC-US 16 84797808 84797808 single base substitution G A downstream_gene_variant UCEC-US 16 84797808 84797808 single base substitution G A intron_variant UCEC-US 16 84797808 84797808 single base substitution G A missense_variant V103I 307G>A UCEC-US 16 84797808 84797808 single base substitution G A missense_variant V591I 1771G>A UCEC-US 16 84797808 84797808 single base substitution G A missense_variant V595I 1783G>A UCEC-US 16 84797808 84797808 single base substitution G A upstream_gene_variant UCEC-US 16 84801873 84801873 single base substitution A G 3_prime_UTR_variant UCEC-US 16 84801873 84801873 single base substitution A G 5_prime_UTR_variant UCEC-US 16 84801873 84801873 single base substitution A G downstream_gene_variant UCEC-US 16 84801873 84801873 single base substitution A G missense_variant Q148R 443A>G UCEC-US 16 84801873 84801873 single base substitution A G missense_variant Q1R 2A>G UCEC-US 16 84801873 84801873 single base substitution A G missense_variant Q636R 1907A>G UCEC-US 16 84801873 84801873 single base substitution A G missense_variant Q640R 1919A>G UCEC-US 16 84801873 84801873 single base substitution A G synonymous_variant P207P 621A>G UCEC-US 16 84801926 84801926 single base substitution G T 3_prime_UTR_variant UCEC-US 16 84801926 84801926 single base substitution G T downstream_gene_variant UCEC-US 16 84801926 84801926 single base substitution G T stop_gained E18* 52G>T UCEC-US 16 84801926 84801926 single base substitution G T stop_gained E19* 55G>T UCEC-US 16 84801926 84801926 single base substitution G T stop_gained E654* 1960G>T UCEC-US 16 84801926 84801926 single base substitution G T stop_gained E658* 1972G>T UCEC-US 16 84801927 84801927 single base substitution A C 3_prime_UTR_variant UCEC-US 16 84801927 84801927 single base substitution A C downstream_gene_variant UCEC-US 16 84801927 84801927 single base substitution A C missense_variant E18A 53A>C UCEC-US 16 84801927 84801927 single base substitution A C missense_variant E19A 56A>C UCEC-US 16 84801927 84801927 single base substitution A C missense_variant E654A 1961A>C UCEC-US 16 84801927 84801927 single base substitution A C missense_variant E658A 1973A>C UCEC-US 16 84806215 84806215 single base substitution C T 3_prime_UTR_variant UCEC-US 16 84806215 84806215 single base substitution C T downstream_gene_variant UCEC-US 16 84806215 84806215 single base substitution C T intron_variant UCEC-US 16 84806215 84806215 single base substitution C T synonymous_variant F53F 159C>T UCEC-US 16 84806215 84806215 single base substitution C T synonymous_variant F689F 2067C>T UCEC-US 16 84806215 84806215 single base substitution C T synonymous_variant F693F 2079C>T UCEC-US 16 84806233 84806233 single base substitution T G 3_prime_UTR_variant UCEC-US 16 84806233 84806233 single base substitution T G downstream_gene_variant UCEC-US 16 84806233 84806233 single base substitution T G intron_variant UCEC-US 16 84806233 84806233 single base substitution T G synonymous_variant G59G 177T>G UCEC-US 16 84806233 84806233 single base substitution T G synonymous_variant G695G 2085T>G UCEC-US 16 84806233 84806233 single base substitution T G synonymous_variant G699G 2097T>G UCEC-US 16 84806270 84806270 single base substitution G A 3_prime_UTR_variant UCEC-US 16 84806270 84806270 single base substitution G A downstream_gene_variant UCEC-US 16 84806270 84806270 single base substitution G A intron_variant UCEC-US 16 84806270 84806270 single base substitution G A missense_variant V708M 2122G>A UCEC-US 16 84806270 84806270 single base substitution G A missense_variant V712M 2134G>A UCEC-US 16 84806270 84806270 single base substitution G A missense_variant V72M 214G>A UCEC-US 16 84812581 84812581 single base substitution C T 3_prime_UTR_variant UCEC-US 16 84812581 84812581 single base substitution C T missense_variant R106C 316C>T UCEC-US 16 84812581 84812581 single base substitution C T missense_variant R764C 2290C>T UCEC-US 16 84812581 84812581 single base substitution C T missense_variant R768C 2302C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CAL33 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + OSCC-GB_01000111 COSM4884308 c.975C>A p.D325E Substitution - Missense 16:84745456-84745456 + RK120_C01 COSM3701143 c.1903A>T p.I635F Substitution - Missense 16:84768263-84768263 + T1154 COSM4739634 c.1752delC p.R586fs*84 Deletion - Frameshift 16:84764183-84764183 + TCGA-EB-A41A-01 COSM3513035 c.2035C>T p.P679S Substitution - Missense 16:84772577-84772577 + PTC-28C COSM3755152 c.598A>G p.M200V Substitution - Missense 16:84745079-84745079 + TCGA-EE-A182-06 COSM3513029 c.1649A>G p.N550S Substitution - Missense 16:84763083-84763083 + CHC892T COSM4794436 c.2233G>A p.A745T Substitution - Missense 16:84778918-84778918 + TCGA-AM-5820-01 COSM3755156 c.1161T>G p.V387V Substitution - coding silent 16:84745642-84745642 + PDA_059 COSM5001072 c.1067C>T p.P356L Substitution - Missense 16:84745548-84745548 + H358 COSM1193997 c.679C>T p.P227S Substitution - Missense 16:84745160-84745160 + TCGA-HT-A614-01 COSM3969732 c.161A>G p.Y54C Substitution - Missense 16:84744642-84744642 + TCGA-AP-A059-01 COSM974436 c.876C>A p.S292S Substitution - coding silent 16:84745357-84745357 + LIM2551 COSM4644031 c.4G>A p.A2T Substitution - Missense 16:84700094-84700094 + CSCC-31-T COSM4515546 c.1156_1157CC>GT p.P386V Substitution - Missense 16:84745637-84745638 + SNUH_G73_S1 COSM4415682 c.607T>C p.S203P Substitution - Missense 16:84745088-84745088 + TCGA-EE-A2GC-06 COSM3513032 c.1770C>T p.S590S Substitution - coding silent 16:84764201-84764201 + SNUH_G76_S1 COSM3755152 c.598A>G p.M200V Substitution - Missense 16:84745079-84745079 + T3090 COSM4739631 c.1379C>A p.P460H Substitution - Missense 16:84759457-84759457 + TCGA-F5-6814-01 COSM3421204 c.37T>G p.F13V Substitution - Missense 16:84733450-84733450 + TCGA-AP-A0LM-01 COSM974464 c.2290C>T p.R764C Substitution - Missense 16:84778975-84778975 + TCGA-B5-A11N-01 COSM974429 c.136G>A p.D46N Substitution - Missense 16:84740354-84740354 + TCGA-D8-A1JF-01 COSM1479144 c.213G>T p.L71F Substitution - Missense 16:84744694-84744694 + TCGA-G4-6588-01 COSM1380224 c.1922G>A p.R641H Substitution - Missense 16:84768282-84768282 + TCGA-AP-A051-01 COSM974434 c.851T>C p.V284A Substitution - Missense 16:84745332-84745332 + CHC1207T COSM4800159 c.295A>G p.I99V Substitution - Missense 16:84744776-84744776 + PTC-28C COSM4129441 c.1082A>C p.E361A Substitution - Missense 16:84745563-84745563 + CSCC-31-T COSM3513034 c.2034C>T p.L678L Substitution - coding silent 16:84772576-84772576 + TCGA-AG-3898-01 COSM288991 c.2062C>T p.R688* Substitution - Nonsense 16:84772604-84772604 + TCGA-DS-A7WF-01 COSM4821641 c.617C>T p.P206L Substitution - Missense 16:84745098-84745098 + PTC-28C COSM4129443 c.2160G>A p.G720G Substitution - coding silent 16:84775176-84775176 + UM-SCC-4 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-AB-2859-03 COSM1318547 c.1156delC p.P386fs*7 Deletion - Frameshift 16:84745637-84745637 + TCGA-AM-5821-01 COSM3755154 c.610G>C p.V204L Substitution - Missense 16:84745091-84745091 + pfg181T COSM4758328 c.2237C>T p.T746M Substitution - Missense 16:84778922-84778922 + TCGA-AM-5821-01 COSM3755152 c.598A>G p.M200V Substitution - Missense 16:84745079-84745079 + TCGA-06-0875 COSM2152048 c.2262C>A p.V754V Substitution - coding silent 16:84778947-84778947 + BD130T COSM5516062 c.2097G>T p.K699N Substitution - Missense 16:84772639-84772639 + TCGA-CA-6718-01 COSM974454 c.1960G>T p.E654* Substitution - Nonsense 16:84768320-84768320 + TCGA-E2-A15I-01 COSM3818660 c.1174G>T p.V392L Substitution - Missense 16:84745655-84745655 + TCGA-F5-6814-01 COSM3421205 c.2174A>C p.N725T Substitution - Missense 16:84775190-84775190 + TCGA-EE-A29M-06 COSM3513026 c.794C>T p.S265L Substitution - Missense 16:84745275-84745275 + TCGA-EE-A3J5-06 COSM3513023 c.302C>T p.P101L Substitution - Missense 16:84744783-84744783 + TCGA-AX-A0J0-01 COSM974454 c.1960G>T p.E654* Substitution - Nonsense 16:84768320-84768320 + EOPC-04_tumor COSM3716475 c.1034T>A p.L345H Substitution - Missense 16:84745515-84745515 + BD130T COSM5516063 c.2098C>T p.L700F Substitution - Missense 16:84772640-84772640 + TCGA-39-5019-01 COSM704524 c.283A>G p.T95A Substitution - Missense 16:84744764-84744764 + 1517_CLM COSM5754931 c.677G>T p.S226I Substitution - Missense 16:84745158-84745158 + ESO-152 COSM1270039 c.2168A>G p.N723S Substitution - Missense 16:84775184-84775184 + TCGA-A3-3316-01 COSM1493802 c.2223C>T p.H741H Substitution - coding silent 16:84778908-84778908 + TCGA-EJ-7125-01 COSM3672333 c.2086G>T p.G696W Substitution - Missense 16:84772628-84772628 + CSCC-55-T COSM4548546 c.32G>A p.G11E Substitution - Missense 16:84733445-84733445 + I2L-P19Tb-Tumor-Organoid COSM5363451 c.307G>T p.G103C Substitution - Missense 16:84744788-84744788 + TCGA-FS-A1ZF-06 COSM3513024 c.337A>T p.I113F Substitution - Missense 16:84744818-84744818 + TCGA-D1-A167-01 COSM974450 c.1771G>A p.V591I Substitution - Missense 16:84764202-84764202 + TCGA-AA-3852-01 COSM271903 c.1244G>A p.R415H Substitution - Missense 16:84758767-84758767 + 471 COSM974448 c.1573G>A p.E525K Substitution - Missense 16:84763007-84763007 + PT08_2 COSM5893891 c.301C>T p.P101S Substitution - Missense 16:84744782-84744782 + TCGA-EL-A3H7-01 COSM3370584 c.1213C>G p.L405V Substitution - Missense 16:84758736-84758736 + 292_T COSM3957885 c.828C>T p.T276T Substitution - coding silent 16:84745309-84745309 + TCGA-EB-A44N-01 COSM3513027 c.878C>T p.S293L Substitution - Missense 16:84745359-84745359 + PTC-28C COSM4129442 c.2159G>A p.G720E Substitution - Missense 16:84775175-84775175 + 35M COSM417241 c.1480C>T p.R494C Substitution - Missense 16:84760201-84760201 + TCGA-D1-A163-01 COSM974460 c.2085T>G p.G695G Substitution - coding silent 16:84772627-84772627 + WSU-HN13 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-CM-4746-01 COSM1380228 c.2368C>T p.L790L Substitution - coding silent 16:84779053-84779053 + SNUH_G16_S1 COSM3755152 c.598A>G p.M200V Substitution - Missense 16:84745079-84745079 + T3080 COSM4739632 c.1436_1437insA p.P481fs*8 Insertion - Frameshift 16:84759932-84759933 + PT49 COSM5936245 c.1111C>T p.P371S Substitution - Missense 16:84745592-84745592 + 2530678 COSM5885715 c.2016A>G p.R672R Substitution - coding silent 16:84772558-84772558 + TCGA-AP-A0LM-01 COSM974427 c.77G>A p.R26Q Substitution - Missense 16:84733490-84733490 + TCGA-AZ-6601-01 COSM1380225 c.1928T>C p.V643A Substitution - Missense 16:84768288-84768288 + TCGA-AA-3715-01 COSM270523 c.1287A>G p.T429T Substitution - coding silent 16:84759365-84759365 + WSU-HN12 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + SNUH_G73_S1 COSM3755154 c.610G>C p.V204L Substitution - Missense 16:84745091-84745091 + TCGA-AD-6889-01 COSM1380226 c.2120C>A p.P707H Substitution - Missense 16:84772662-84772662 + TCGA-CG-5723-01 COSM4063324 c.2047G>A p.V683M Substitution - Missense 16:84772589-84772589 + H322T COSM1194985 c.1156C>A p.P386T Substitution - Missense 16:84745637-84745637 + S01022 COSM5665790 c.1284+2T>C p.? Unknown 16:84758809-84758809 + ESCC_81 COSM5635875 c.476A>G p.Y159C Substitution - Missense 16:84744957-84744957 + TCGA-BR-4361-01 COSM4063319 c.270T>C p.F90F Substitution - coding silent 16:84744751-84744751 + C0085T COSM4151442 c.2210-3C>T p.? Unknown 16:84778892-84778892 + TCGA-B5-A11R-01 COSM974458 c.2067C>T p.F689F Substitution - coding silent 16:84772609-84772609 + TCGA-BT-A2LB-01 COSM3795193 c.267A>G p.E89E Substitution - coding silent 16:84744748-84744748 + TCGA-EE-A29A-06 COSM3513022 c.44C>T p.P15L Substitution - Missense 16:84733457-84733457 + PT37 COSM5921061 c.1284+6C>T p.? Unknown 16:84758813-84758813 + TCGA-C5-A3HE-01 COSM148135 c.2202C>G p.L734L Substitution - coding silent 16:84775218-84775218 + TCGA-AM-5820-01 COSM3755155 c.675C>T p.D225D Substitution - coding silent 16:84745156-84745156 + WSU-HN6 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-06-0875-01 COSM2152048 c.2262C>A p.V754V Substitution - coding silent 16:84778947-84778947 + TCGA-BR-4368-01 COSM4063323 c.2039C>A p.P680H Substitution - Missense 16:84772581-84772581 + T2932 COSM4739630 c.1240delC p.R415fs*3 Deletion - Frameshift 16:84758763-84758763 + TCGA-FU-A3HZ-01 COSM974444 c.1467C>T p.I489I Substitution - coding silent 16:84760188-84760188 + Pat_24_B COSM5851645 c.172G>C p.E58Q Substitution - Missense 16:84744653-84744653 + sysucc-311T COSM5479232 c.460A>C p.K154Q Substitution - Missense 16:84744941-84744941 + YUGATOR COSM5385504 c.290C>T p.S97F Substitution - Missense 16:84744771-84744771 + 587376 COSM1231951 c.2136T>G p.I712M Substitution - Missense 16:84772678-84772678 + EGC3 COSM5055150 c.980C>T p.T327M Substitution - Missense 16:84745461-84745461 + SCC-25 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + PR-2915 COSM248233 c.1475A>G p.D492G Substitution - Missense 16:84760196-84760196 + SNUH_G73_S1 COSM3755153 c.603C>T p.P201P Substitution - coding silent 16:84745084-84745084 + PT31 COSM5001072 c.1067C>T p.P356L Substitution - Missense 16:84745548-84745548 + CAL27 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-AA-3510-01 COSM974444 c.1467C>T p.I489I Substitution - coding silent 16:84760188-84760188 + TCGA-C4-A0EZ-01 COSM417241 c.1480C>T p.R494C Substitution - Missense 16:84760201-84760201 + TCGA-AP-A056-01 COSM974444 c.1467C>T p.I489I Substitution - coding silent 16:84760188-84760188 + Pat_07_B COSM4982213 c.2377C>T p.R793C Substitution - Missense 16:84779062-84779062 + TCGA-A5-A0VP-01 COSM974462 c.2122G>A p.V708M Substitution - Missense 16:84772664-84772664 + CHC892T COSM4794436 c.2233G>A p.A745T Substitution - Missense 16:84778918-84778918 + TCGA-CD-5801-01 COSM4063322 c.1806C>T p.I602I Substitution - coding silent 16:84764237-84764237 + TCGA-BS-A0TC-01 COSM264593 c.183C>T p.V61V Substitution - coding silent 16:84744664-84744664 + TCGA-D1-A174-01 COSM974432 c.248T>C p.L83P Substitution - Missense 16:84744729-84744729 + CSCC-56-T COSM3513035 c.2035C>T p.P679S Substitution - Missense 16:84772577-84772577 + LUAD-RT-S01700 COSM378680 c.2286G>C p.W762C Substitution - Missense 16:84778971-84778971 + TCGA-D1-A103-01 COSM974438 c.920C>T p.T307M Substitution - Missense 16:84745401-84745401 + I2L-P10-Tumor-Organoid COSM5363273 c.2176T>G p.F726V Substitution - Missense 16:84775192-84775192 + STC297 COSM5055149 c.729delG p.G245fs*66 Deletion - Frameshift 16:84745210-84745210 + CSCC-44-T COSM4471126 c.1688C>T p.S563L Substitution - Missense 16:84764119-84764119 + UM-SCC-17B COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-D5-6538-01 COSM288991 c.2062C>T p.R688* Substitution - Nonsense 16:84772604-84772604 + CHC1207T COSM4800159 c.295A>G p.I99V Substitution - Missense 16:84744776-84744776 + TCGA-BF-A3DL-01 COSM4904879 c.2193C>T p.T731T Substitution - coding silent 16:84775209-84775209 + CSCC-62-T COSM4523088 c.1185G>A p.K395K Substitution - coding silent 16:84745666-84745666 + TCGA-CG-5721-01 COSM4063320 c.756G>T p.Q252H Substitution - Missense 16:84745237-84745237 + TCGA-BR-8361-01 COSM4063325 c.2259C>T p.D753D Substitution - coding silent 16:84778944-84778944 + YULETA COSM3513033 c.1998G>A p.E666E Substitution - coding silent 16:84768358-84768358 + SNUH_G76_S1 COSM148135 c.2202C>G p.L734L Substitution - coding silent 16:84775218-84775218 + SNUH_G10_S1 COSM3755155 c.675C>T p.D225D Substitution - coding silent 16:84745156-84745156 + TCGA-AZ-4315-01 COSM1380227 c.2189G>A p.R730Q Substitution - Missense 16:84775205-84775205 + TCGA-EE-A2GB-06 COSM3513034 c.2034C>T p.L678L Substitution - coding silent 16:84772576-84772576 + 8069443 COSM3771237 c.2395T>C p.*799Q Nonstop extension 16:84779080-84779080 + TCGA-AA-A010-01 COSM286377 c.1445G>T p.R482L Substitution - Missense 16:84759941-84759941 + CHC1597T COSM4787756 c.571G>A p.A191T Substitution - Missense 16:84745052-84745052 + I2L-P19Tb-Tumor-Biopsy COSM5363451 c.307G>T p.G103C Substitution - Missense 16:84744788-84744788 + PDA_072 COSM5001072 c.1067C>T p.P356L Substitution - Missense 16:84745548-84745548 + TCGA-FW-A3R5-06 COSM3889098 c.253C>T p.P85S Substitution - Missense 16:84744734-84744734 + T3021 COSM4739636 c.2198G>A p.R733Q Substitution - Missense 16:84775214-84775214 + TCGA-F1-6177-01 COSM974464 c.2290C>T p.R764C Substitution - Missense 16:84778975-84778975 + TCGA-EI-6882-01 COSM3421206 c.2359G>A p.A787T Substitution - Missense 16:84779044-84779044 + CSCC-11-T COSM3513034 c.2034C>T p.L678L Substitution - coding silent 16:84772576-84772576 + TCGA-DA-A1I1-06 COSM3513033 c.1998G>A p.E666E Substitution - coding silent 16:84768358-84768358 + I2L-P7-Tumor-Organoid COSM5363779 c.957T>C p.S319S Substitution - coding silent 16:84745438-84745438 + TCGA-DS-A1OD-01 COSM1293627 c.2094G>A p.Q698Q Substitution - coding silent 16:84772636-84772636 + TCGA-B5-A11N-01 COSM974452 c.1907A>G p.Q636R Substitution - Missense 16:84768267-84768267 + LP6005409-DNA_H03 COSM4879713 c.2104A>G p.K702E Substitution - Missense 16:84772646-84772646 + PDA_039 COSM5000048 c.1271G>C p.C424S Substitution - Missense 16:84758794-84758794 + TCGA-AM-5820-01 COSM148135 c.2202C>G p.L734L Substitution - coding silent 16:84775218-84775218 + 01-P1216 COSM4579340 c.2271C>T p.I757I Substitution - coding silent 16:84778956-84778956 + CHC1597T COSM4787756 c.571G>A p.A191T Substitution - Missense 16:84745052-84745052 + S0091 COSM5882784 c.2312A>T p.K771M Substitution - Missense 16:84778997-84778997 + WSU-HN8 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-AP-A0LF-01 COSM974448 c.1573G>A p.E525K Substitution - Missense 16:84763007-84763007 + TCGA-FW-A3R5-06 COSM3889099 c.1606C>T p.H536Y Substitution - Missense 16:84763040-84763040 + STC291 COSM4063324 c.2047G>A p.V683M Substitution - Missense 16:84772589-84772589 + CSCC-6-T COSM4461869 c.1211C>T p.T404I Substitution - Missense 16:84758734-84758734 + ccRCC-64 COSM1659819 c.1033C>G p.L345V Substitution - Missense 16:84745514-84745514 + GC8_T COSM148135 c.2202C>G p.L734L Substitution - coding silent 16:84775218-84775218 + 93VU147T COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + ESCC_132 COSM5642365 c.1380C>T p.P460P Substitution - coding silent 16:84759458-84759458 + TCGA-AK-3461-01 COSM3361942 c.115C>G p.L39V Substitution - Missense 16:84740333-84740333 + ICC012T COSM5808803 c.205G>C p.D69H Substitution - Missense 16:84744686-84744686 + PT08_1 COSM5893891 c.301C>T p.P101S Substitution - Missense 16:84744782-84744782 + TCGA-D1-A16X-01 COSM974444 c.1467C>T p.I489I Substitution - coding silent 16:84760188-84760188 + TCGA-EE-A2GC-06 COSM3513025 c.765C>T p.F255F Substitution - coding silent 16:84745246-84745246 + NOKSI COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-EE-A182-06 COSM3513028 c.1230G>A p.V410V Substitution - coding silent 16:84758753-84758753 + CSCC-52-T COSM4462662 c.1243C>T p.R415C Substitution - Missense 16:84758766-84758766 + PD11368a COSM5786289 c.865A>C p.I289L Substitution - Missense 16:84745346-84745346 + T3444 COSM4739635 c.2025G>A p.L675L Substitution - coding silent 16:84772567-84772567 + LUAD-S01478 COSM399730 c.995G>T p.G332V Substitution - Missense 16:84745476-84745476 + TCGA-D1-A17Q-01 COSM974456 c.1961A>C p.E654A Substitution - Missense 16:84768321-84768321 + TCGA-BW-A5NO-01 COSM4933193 c.1890G>A p.T630T Substitution - coding silent 16:84768250-84768250 + 169 COSM3730012 c.735delC p.A248fs*63 Deletion - Frameshift 16:84745216-84745216 + C008 COSM5524157 c.373G>A p.D125N Substitution - Missense 16:84744854-84744854 + TCGA-BR-8680-01 COSM4063321 c.1223A>C p.K408T Substitution - Missense 16:84758746-84758746 + S02093 COSM5673124 c.981G>A p.T327T Substitution - coding silent 16:84745462-84745462 + PCSI_0083_Pa_P_526 COSM3787244 c.2378G>A p.R793H Substitution - Missense 16:84779063-84779063 + PDA_016 COSM4998865 c.1132G>A p.V378I Substitution - Missense 16:84745613-84745613 + UM-SCC-47 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-DK-A3IS-01 COSM1302310 c.548C>T p.S183L Substitution - Missense 16:84745029-84745029 + 3N44-VS-3T44 COSM4982213 c.2377C>T p.R793C Substitution - Missense 16:84779062-84779062 + SNUH_G10_S1 COSM3999965 c.1563A>G p.Q521Q Substitution - coding silent 16:84762997-84762997 + TCGA-AG-A002-01 COSM264593 c.183C>T p.V61V Substitution - coding silent 16:84744664-84744664 + SCC-9 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + UM-SCC-2 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + ORL-48 COSM4591635 c.1093T>C p.S365P Substitution - Missense 16:84745574-84745574 + TCGA-AM-5821-01 COSM3755153 c.603C>T p.P201P Substitution - coding silent 16:84745084-84745084 + PTC-7C COSM148135 c.2202C>G p.L734L Substitution - coding silent 16:84775218-84775218 + T2269 COSM4739633 c.1648A>C p.N550H Substitution - Missense 16:84763082-84763082 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.136778 16q24.1 609818 2455721|CGAP|BC000263|C/T|coding|Pro201Pro|715|Candidate; 2455725|CGAP|BC000263|C/T|coding|Asp225Asp|787|Validated; 2455727|CGAP|BC000263|C/G|coding|Leu734Leu|2314|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K552Q c.1654A>C 16 84796694 STAD - A Frameshift p.L678Tfs*15 c.2031dupA 16 84806175 STAD A G Missense p.D325G c.974A>G 16 84779061 LUAD A G Missense p.N550S c.1649A>G 16 84796689 CM A G Missense p.N723S c.2168A>G 16 84808790 ESCA A G Missense p.T95A c.283A>G 16 84778370 LUSC A G Synonymous p.E89E c.267A>G 16 84778354 BLCA A T Missense p.I113F c.337A>T 16 84778424 CM A T Synonymous p.A736A c.2208A>T 16 84808830 HNSC C A Missense p.P680H c.2039C>A 16 84806187 STAD C A Missense p.R415S c.1243C>A 16 84792372 LUAD C A Synonymous p.V754V c.2262C>A 16 84812553 GBM C - Frameshift p.P386Rfs*7 c.1157delC 16 84779243 AML C - Frameshift p.S388*fs*1 c.1163delC 16 84779250 CM C G Missense p.L405V c.1213C>G 16 84792342 THCA C T Missense p.P101L c.302C>T 16 84778389 CM C T Missense p.P15L c.44C>T 16 84767063 CM C T Missense p.R494C c.1480C>T 16 84793807 BLCA C T Missense p.R764C c.2290C>T 16 84812581 STAD C T Missense p.S183L c.548C>T 16 84778635 BLCA C T Missense p.S265L c.794C>T 16 84778881 CM C T Nonsense p.R688* c.2062C>T 16 84806210 COREAD C T Synonymous p.F255F c.765C>T 16 84778852 CM C T Synonymous p.F689F c.2067C>T 16 84806215 UCEC C T Synonymous p.G326G c.978C>T 16 84779065 BRCA C T Synonymous p.I602I c.1806C>T 16 84797843 STAD C T Synonymous p.L678L c.2034C>T 16 84806182 CM C T Synonymous p.L684L c.2050C>T 16 84806198 CM C T Synonymous p.S556S c.1668C>T 16 84797705 CM C T Synonymous p.S590S c.1770C>T 16 84797807 CM C T Synonymous p.T731T c.2193C>T 16 84808815 CM C T Synonymous p.V61V c.183C>T 16 84778270 UCEC G A Missense p.E525K c.1573G>A 16 84796613 UCEC G A Missense p.R415H c.1244G>A 16 84792373 COREAD G A Missense p.V708M c.2122G>A 16 84806270 UCEC G A Synonymous p.V410V c.1230G>A 16 84792359 CM G T Missense p.L71F c.213G>T 16 84778300 BRCA T C Missense p.L83P c.248T>C 16 84778335 UCEC T G IntronicSNV . c.21+1352T>G 16 84735069 CLL T G Missense p.V477G c.1430T>G 16 84793532 HNSC T G Synonymous p.G695G c.2085T>G 16 84806233 UCEC