Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 16 50785767 50785767 + Missense_Mutation SNP G G A TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr16:50785767G>A c.757G>A c.(757-759)Gat>Aat p.D253N BLCA 16 50811754 50811754 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr16:50811754G>A c.1040G>A c.(1039-1041)gGa>gAa p.G347E BLCA 16 50821713 50821713 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr16:50821713G>A c.2058G>A c.(2056-2058)ttG>ttA p.L686L BLCA 16 50825577 50825577 + Silent SNP C C T TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr16:50825577C>T c.2217C>T c.(2215-2217)atC>atT p.I739I BRCA 16 50783709 50783709 + Missense_Mutation SNP C C G TCGA-OL-A66I-01A-21D-A29N-09 TCGA-OL-A66I-10A-01D-A29N-09 g.chr16:50783709C>G c.100C>G c.(100-102)Caa>Gaa p.Q34E BRCA 16 50783750 50783750 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr16:50783750A>G c.141A>G c.(139-141)ggA>ggG p.G47G BRCA 16 50816338 50816338 + Missense_Mutation SNP G G A TCGA-AR-A1AY-01A-21D-A12Q-09 TCGA-AR-A1AY-10A-01D-A12Q-09 g.chr16:50816338G>A c.1787G>A c.(1786-1788)gGt>gAt p.G596D BRCA 16 50828137 50828137 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr16:50828137G>A c.2484G>A c.(2482-2484)ccG>ccA p.P828P CESC 16 50783889 50783889 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr16:50783889G>C c.280G>C c.(280-282)Gaa>Caa p.E94Q CESC 16 50813848 50813848 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr16:50813848G>C c.1411G>C c.(1411-1413)Gaa>Caa p.E471Q COAD 16 50783688 50783688 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:50783688G>T c.79G>T c.(79-81)Gaa>Taa p.E27* COAD 16 50783734 50783734 + Missense_Mutation SNP C C T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr16:50783734C>T c.125C>T c.(124-126)cCg>cTg p.P42L COAD 16 50784087 50784087 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:50784087G>A c.478G>A c.(478-480)Gga>Aga p.G160R COAD 16 50785685 50785685 + Silent SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr16:50785685C>T c.675C>T c.(673-675)gtC>gtT p.V225V COAD 16 50788265 50788265 + Silent SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr16:50788265T>C c.843T>C c.(841-843)gaT>gaC p.D281D COAD 16 50788287 50788287 + Missense_Mutation SNP G G T TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr16:50788287G>T c.865G>T c.(865-867)Gcg>Tcg p.A289S COAD 16 50788287 50788287 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:50788287G>T c.865G>T c.(865-867)Gcg>Tcg p.A289S COAD 16 50788288 50788288 + Missense_Mutation SNP C C A TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr16:50788288C>A c.866C>A c.(865-867)gCg>gAg p.A289E COAD 16 50811827 50811827 + Silent SNP A A G TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr16:50811827A>G c.1113A>G c.(1111-1113)tcA>tcG p.S371S COAD 16 50811851 50811851 + Splice_Site SNP A A G TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr16:50811851A>G c.1137A>G c.(1135-1137)gaA>gaG p.E379E COAD 16 50811851 50811851 + Splice_Site SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr16:50811851A>G c.1137A>G c.(1135-1137)gaA>gaG p.E379E COAD 16 50813778 50813778 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr16:50813778A>C c.1341A>C c.(1339-1341)gaA>gaC p.E447D COAD 16 50815180 50815180 + Silent SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr16:50815180G>A c.1542G>A c.(1540-1542)acG>acA p.T514T COAD 16 50815180 50815180 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr16:50815180G>A c.1542G>A c.(1540-1542)acG>acA p.T514T COAD 16 50815321 50815321 + Splice_Site SNP A A G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr16:50815321A>G c.1683A>G c.(1681-1683)ttA>ttG p.L561L COAD 16 50815321 50815321 + Splice_Site SNP A A G TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr16:50815321A>G c.1683A>G c.(1681-1683)ttA>ttG p.L561L COAD 16 50816264 50816264 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:50816264A>G c.1713A>G c.(1711-1713)gtA>gtG p.V571V COAD 16 50816275 50816275 + Missense_Mutation SNP C C A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:50816275C>A c.1724C>A c.(1723-1725)aCt>aAt p.T575N COAD 16 50816277 50816277 + Missense_Mutation SNP C C A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:50816277C>A c.1726C>A c.(1726-1728)Cca>Aca p.P576T COAD 16 50816344 50816344 + Missense_Mutation SNP A A T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr16:50816344A>T c.1793A>T c.(1792-1794)tAc>tTc p.Y598F COAD 16 50816345 50816345 + Nonsense_Mutation SNP C C A TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr16:50816345C>A c.1794C>A c.(1792-1794)taC>taA p.Y598* COAD 16 50816345 50816345 + Silent SNP C C T TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr16:50816345C>T c.1794C>T c.(1792-1794)taC>taT p.Y598Y COAD 16 50816345 50816345 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:50816345C>T c.1794C>T c.(1792-1794)taC>taT p.Y598Y COAD 16 50820848 50820848 + Missense_Mutation SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr16:50820848G>A c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K COAD 16 50820849 50820849 + Missense_Mutation SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr16:50820849A>G c.2033A>G c.(2032-2034)gAa>gGa p.E678G COAD 16 50820849 50820849 + Missense_Mutation SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr16:50820849A>G c.2033A>G c.(2032-2034)gAa>gGa p.E678G COAD 16 50820849 50820849 + Missense_Mutation SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr16:50820849A>G c.2033A>G c.(2032-2034)gAa>gGa p.E678G COAD 16 50821762 50821762 + Splice_Site SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr16:50821762A>G c.2107A>G c.(2107-2109)Aga>Gga p.R703G COAD 16 50825519 50825519 + Frame_Shift_Del DEL A A - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:50825519delA c.2159delA c.(2158-2160)gaafs p.E720fs COAD 16 50825519 50825519 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:50825519delA c.2159delA c.(2158-2160)gaafs p.E720fs COAD 16 50825538 50825538 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:50825538C>T c.2178C>T c.(2176-2178)ggC>ggT p.G726G COAD 16 50826585 50826585 + Silent SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr16:50826585G>A c.2319G>A c.(2317-2319)ctG>ctA p.L773L COAD 16 50828128 50828128 + Silent SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr16:50828128C>T c.2475C>T c.(2473-2475)caC>caT p.H825H COAD 16 50828193 50828193 + Nonsense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr16:50828193G>A c.2540G>A c.(2539-2541)tGg>tAg p.W847* COAD 16 50830354 50830354 + Nonsense_Mutation SNP C C T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr16:50830354C>T c.2806C>T c.(2806-2808)Cga>Tga p.R936* COADREAD 16 50783688 50783688 + Nonsense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:50783688G>T c.79G>T c.(79-81)Gaa>Taa p.E27* COADREAD 16 50783734 50783734 + Missense_Mutation SNP C C T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr16:50783734C>T c.125C>T c.(124-126)cCg>cTg p.P42L COADREAD 16 50783748 50783748 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:50783748G>T c.139G>T c.(139-141)Gga>Tga p.G47* COADREAD 16 50784087 50784087 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:50784087G>A c.478G>A c.(478-480)Gga>Aga p.G160R COADREAD 16 50785685 50785685 + Silent SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr16:50785685C>T c.675C>T c.(673-675)gtC>gtT p.V225V COADREAD 16 50788265 50788265 + Silent SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr16:50788265T>C c.843T>C c.(841-843)gaT>gaC p.D281D COADREAD 16 50788287 50788287 + Missense_Mutation SNP G G T TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr16:50788287G>T c.865G>T c.(865-867)Gcg>Tcg p.A289S COADREAD 16 50788287 50788287 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:50788287G>T c.865G>T c.(865-867)Gcg>Tcg p.A289S COADREAD 16 50788288 50788288 + Missense_Mutation SNP C C A TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr16:50788288C>A c.866C>A c.(865-867)gCg>gAg p.A289E COADREAD 16 50810186 50810186 + Missense_Mutation SNP C C T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr16:50810186C>T c.1019C>T c.(1018-1020)aCa>aTa p.T340I COADREAD 16 50811825 50811825 + Missense_Mutation SNP T T C TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr16:50811825T>C c.1111T>C c.(1111-1113)Tca>Cca p.S371P COADREAD 16 50811827 50811827 + Silent SNP A A G TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr16:50811827A>G c.1113A>G c.(1111-1113)tcA>tcG p.S371S COADREAD 16 50811851 50811851 + Splice_Site SNP A A G TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr16:50811851A>G c.1137A>G c.(1135-1137)gaA>gaG p.E379E COADREAD 16 50811851 50811851 + Splice_Site SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr16:50811851A>G c.1137A>G c.(1135-1137)gaA>gaG p.E379E COADREAD 16 50813778 50813778 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr16:50813778A>C c.1341A>C c.(1339-1341)gaA>gaC p.E447D COADREAD 16 50815180 50815180 + Silent SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr16:50815180G>A c.1542G>A c.(1540-1542)acG>acA p.T514T COADREAD 16 50815180 50815180 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr16:50815180G>A c.1542G>A c.(1540-1542)acG>acA p.T514T COADREAD 16 50815321 50815321 + Splice_Site SNP A A G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr16:50815321A>G c.1683A>G c.(1681-1683)ttA>ttG p.L561L COADREAD 16 50815321 50815321 + Splice_Site SNP A A G TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr16:50815321A>G c.1683A>G c.(1681-1683)ttA>ttG p.L561L COADREAD 16 50816264 50816264 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:50816264A>G c.1713A>G c.(1711-1713)gtA>gtG p.V571V COADREAD 16 50816275 50816275 + Missense_Mutation SNP C C A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:50816275C>A c.1724C>A c.(1723-1725)aCt>aAt p.T575N COADREAD 16 50816277 50816277 + Missense_Mutation SNP C C A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:50816277C>A c.1726C>A c.(1726-1728)Cca>Aca p.P576T COADREAD 16 50816344 50816344 + Missense_Mutation SNP A A T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr16:50816344A>T c.1793A>T c.(1792-1794)tAc>tTc p.Y598F COADREAD 16 50816345 50816345 + Nonsense_Mutation SNP C C A TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr16:50816345C>A c.1794C>A c.(1792-1794)taC>taA p.Y598* COADREAD 16 50816345 50816345 + Silent SNP C C T TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr16:50816345C>T c.1794C>T c.(1792-1794)taC>taT p.Y598Y COADREAD 16 50816345 50816345 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:50816345C>T c.1794C>T c.(1792-1794)taC>taT p.Y598Y COADREAD 16 50820848 50820848 + Missense_Mutation SNP G G A TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr16:50820848G>A c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K COADREAD 16 50820849 50820849 + Missense_Mutation SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr16:50820849A>G c.2033A>G c.(2032-2034)gAa>gGa p.E678G COADREAD 16 50820849 50820849 + Missense_Mutation SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr16:50820849A>G c.2033A>G c.(2032-2034)gAa>gGa p.E678G COADREAD 16 50820849 50820849 + Missense_Mutation SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr16:50820849A>G c.2033A>G c.(2032-2034)gAa>gGa p.E678G COADREAD 16 50820850 50820850 + Silent SNP A A G TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr16:50820850A>G c.2034A>G c.(2032-2034)gaA>gaG p.E678E COADREAD 16 50821762 50821762 + Splice_Site SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr16:50821762A>G c.2107A>G c.(2107-2109)Aga>Gga p.R703G COADREAD 16 50825519 50825519 + Frame_Shift_Del DEL A A - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:50825519delA c.2159delA c.(2158-2160)gaafs p.E720fs COADREAD 16 50825519 50825519 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:50825519delA c.2159delA c.(2158-2160)gaafs p.E720fs COADREAD 16 50825538 50825538 + Silent SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:50825538C>T c.2178C>T c.(2176-2178)ggC>ggT p.G726G COADREAD 16 50826539 50826539 + Missense_Mutation SNP G G T TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr16:50826539G>T c.2273G>T c.(2272-2274)cGa>cTa p.R758L COADREAD 16 50826584 50826584 + Missense_Mutation SNP T T A TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr16:50826584T>A c.2318T>A c.(2317-2319)cTg>cAg p.L773Q COADREAD 16 50826585 50826585 + Silent SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr16:50826585G>A c.2319G>A c.(2317-2319)ctG>ctA p.L773L COADREAD 16 50828128 50828128 + Silent SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr16:50828128C>T c.2475C>T c.(2473-2475)caC>caT p.H825H COADREAD 16 50828193 50828193 + Nonsense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr16:50828193G>A c.2540G>A c.(2539-2541)tGg>tAg p.W847* COADREAD 16 50828330 50828330 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:50828330G>A c.2677G>A c.(2677-2679)Gat>Aat p.D893N COADREAD 16 50830354 50830354 + Nonsense_Mutation SNP C C T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr16:50830354C>T c.2806C>T c.(2806-2808)Cga>Tga p.R936* DLBC 16 50783696 50783696 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr16:50783696C>T c.87C>T c.(85-87)agC>agT p.S29S DLBC 16 50810149 50810149 + Missense_Mutation SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr16:50810149G>A c.982G>A c.(982-984)Gac>Aac p.D328N ESCA 16 50785664 50785664 + Silent SNP T T C TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 g.chr16:50785664T>C c.654T>C c.(652-654)ggT>ggC p.G218G ESCA 16 50818239 50818239 + Splice_Site SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr16:50818239G>T c.e11-1 ESCA 16 50818332 50818332 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr16:50818332T>C c.1919T>C c.(1918-1920)cTg>cCg p.L640P ESCA 16 50826572 50826572 + Frame_Shift_Del DEL T T - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr16:50826572delT c.2306delT c.(2305-2307)attfs p.I769fs ESCA 16 50827509 50827509 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr16:50827509A>C c.2403A>C c.(2401-2403)gaA>gaC p.E801D GBM 16 50783900 50783900 + Silent SNP A A G TCGA-06-0649-01B-01W-0348-08 TCGA-06-0649-10A-01W-0348-08 g.chr16:50783900A>G c.291A>G c.(289-291)acA>acG p.T97T GBM 16 50815179 50815179 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 g.chr16:50815179C>T c.1541C>T c.(1540-1542)aCg>aTg p.T514M GBMLGG 16 50783900 50783900 + Silent SNP A A G TCGA-06-0649-01B-01W-0348-08 TCGA-06-0649-10A-01W-0348-08 g.chr16:50783900A>G c.291A>G c.(289-291)acA>acG p.T97T GBMLGG 16 50785659 50785659 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50785659G>A c.649G>A c.(649-651)Gca>Aca p.A217T GBMLGG 16 50813864 50813864 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50813864C>T c.1427C>T c.(1426-1428)gCt>gTt p.A476V GBMLGG 16 50815179 50815179 + Missense_Mutation SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 g.chr16:50815179C>T c.1541C>T c.(1540-1542)aCg>aTg p.T514M GBMLGG 16 50828334 50828334 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50828334G>A c.2681G>A c.(2680-2682)cGg>cAg p.R894Q HNSC 16 50783939 50783939 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr16:50783939C>A c.330C>A c.(328-330)ttC>ttA p.F110L HNSC 16 50785545 50785545 + Frame_Shift_Del DEL G G - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr16:50785545delG c.535delG c.(535-537)gggfs p.G179fs HNSC 16 50788321 50788321 + Missense_Mutation SNP A A G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 g.chr16:50788321A>G c.899A>G c.(898-900)aAt>aGt p.N300S HNSC 16 50811745 50811745 + Nonsense_Mutation SNP C C G TCGA-CX-A4AQ-01A-11D-A25D-08 TCGA-CX-A4AQ-10A-01D-A25E-08 g.chr16:50811745C>G c.1031C>G c.(1030-1032)tCa>tGa p.S344* HNSC 16 50811792 50811792 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr16:50811792delG c.1078delG c.(1078-1080)gggfs p.G360fs HNSC 16 50811808 50811808 + Nonsense_Mutation SNP C C G TCGA-P3-A5QE-01A-11D-A28R-08 TCGA-P3-A5QE-10A-01D-A28U-08 g.chr16:50811808C>G c.1094C>G c.(1093-1095)tCa>tGa p.S365* HNSC 16 50811826 50811826 + Nonsense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr16:50811826C>A c.1112C>A c.(1111-1113)tCa>tAa p.S371* HNSC 16 50815182 50815182 + Missense_Mutation SNP A A T TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 g.chr16:50815182A>T c.1544A>T c.(1543-1545)gAt>gTt p.D515V HNSC 16 50815236 50815236 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:50815236T>C c.1598T>C c.(1597-1599)tTt>tCt p.F533S HNSC 16 50816274 50816274 + Missense_Mutation SNP A A T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 g.chr16:50816274A>T c.1723A>T c.(1723-1725)Act>Tct p.T575S HNSC 16 50818266 50818266 + Missense_Mutation SNP A A C TCGA-CR-6470-01A-11D-1870-08 TCGA-CR-6470-10A-01D-1870-08 g.chr16:50818266A>C c.1853A>C c.(1852-1854)gAc>gCc p.D618A HNSC 16 50818322 50818323 + Frame_Shift_Ins INS - - A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 g.chr16:50818322_50818323insA c.1909_1910insA c.(1909-1911)caafs p.Q637fs HNSC 16 50820854 50820854 + Nonsense_Mutation SNP A A T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 g.chr16:50820854A>T c.2038A>T c.(2038-2040)Aaa>Taa p.K680* HNSC 16 50830344 50830345 + Frame_Shift_Ins INS - - GG TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 g.chr16:50830344_50830345insGG c.2796_2797insGG c.(2797-2799)ggcfs p.G933fs KICH 16 50825539 50825539 + Missense_Mutation SNP G G A TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr16:50825539G>A c.2179G>A c.(2179-2181)Gtt>Att p.V727I KIPAN 16 50783997 50783997 + Missense_Mutation SNP C C A TCGA-A3-3376-01A-02D-1421-08 TCGA-A3-3376-11A-01D-1421-08 g.chr16:50783997C>A c.388C>A c.(388-390)Cct>Act p.P130T KIPAN 16 50825539 50825539 + Missense_Mutation SNP G G A TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr16:50825539G>A c.2179G>A c.(2179-2181)Gtt>Att p.V727I KIRC 16 50783997 50783997 + Missense_Mutation SNP C C A TCGA-A3-3376-01A-02D-1421-08 TCGA-A3-3376-11A-01D-1421-08 g.chr16:50783997C>A c.388C>A c.(388-390)Cct>Act p.P130T LGG 16 50785659 50785659 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50785659G>A c.649G>A c.(649-651)Gca>Aca p.A217T LGG 16 50813864 50813864 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50813864C>T c.1427C>T c.(1426-1428)gCt>gTt p.A476V LGG 16 50828334 50828334 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:50828334G>A c.2681G>A c.(2680-2682)cGg>cAg p.R894Q LIHC 16 50785567 50785567 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr16:50785567delT c.557delT c.(556-558)cttfs p.L186fs LIHC 16 50811827 50811827 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr16:50811827delA c.1113delA c.(1111-1113)tcafs p.S371fs LIHC 16 50815217 50815217 + Missense_Mutation SNP G G A TCGA-BC-A69H-01A-11D-A30V-10 TCGA-BC-A69H-10A-01D-A30V-10 g.chr16:50815217G>A c.1579G>A c.(1579-1581)Gcc>Acc p.A527T LIHC 16 50816274 50816274 + Missense_Mutation SNP A A C TCGA-3K-AAZ8-01A-12D-A38X-10 TCGA-3K-AAZ8-10A-01D-A38X-10 g.chr16:50816274A>C c.1723A>C c.(1723-1725)Act>Cct p.T575P LIHC 16 50818357 50818357 + Silent SNP G G A TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr16:50818357G>A c.1944G>A c.(1942-1944)ctG>ctA p.L648L LUAD 16 50783814 50783814 + Nonsense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr16:50783814C>T c.205C>T c.(205-207)Cag>Tag p.Q69* LUAD 16 50783950 50783950 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 g.chr16:50783950A>C c.341A>C c.(340-342)aAa>aCa p.K114T LUAD 16 50788335 50788335 + Splice_Site SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr16:50788335G>T c.913G>T c.(913-915)Gct>Tct p.A305S LUAD 16 50811792 50811792 + Missense_Mutation SNP G G T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr16:50811792G>T c.1078G>T c.(1078-1080)Ggg>Tgg p.G360W LUAD 16 50811793 50811793 + Missense_Mutation SNP G G T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr16:50811793G>T c.1079G>T c.(1078-1080)gGg>gTg p.G360V LUAD 16 50813605 50813605 + Nonsense_Mutation SNP G G T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr16:50813605G>T c.1168G>T c.(1168-1170)Gag>Tag p.E390* LUAD 16 50813606 50813606 + Missense_Mutation SNP A A T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr16:50813606A>T c.1169A>T c.(1168-1170)gAg>gTg p.E390V LUAD 16 50813643 50813643 + Silent SNP C C G TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr16:50813643C>G c.1206C>G c.(1204-1206)ctC>ctG p.L402L LUAD 16 50813827 50813827 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chr16:50813827C>T c.1390C>T c.(1390-1392)Cct>Tct p.P464S LUAD 16 50815257 50815257 + Missense_Mutation SNP G G T TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr16:50815257G>T c.1619G>T c.(1618-1620)aGg>aTg p.R540M LUAD 16 50816329 50816329 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr16:50816329G>A c.1778G>A c.(1777-1779)gGc>gAc p.G593D LUAD 16 50818357 50818357 + Silent SNP G G C TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr16:50818357G>C c.1944G>C c.(1942-1944)ctG>ctC p.L648L LUAD 16 50830247 50830247 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr16:50830247G>T c.2699G>T c.(2698-2700)gGc>gTc p.G900V LUAD 16 50830353 50830353 + Silent SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chr16:50830353A>G c.2805A>G c.(2803-2805)gcA>gcG p.A935A LUSC 16 50783821 50783821 + Missense_Mutation SNP G G T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr16:50783821G>T c.212G>T c.(211-213)gGa>gTa p.G71V LUSC 16 50810116 50810116 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr16:50810116C>T c.949C>T c.(949-951)Ccc>Tcc p.P317S LUSC 16 50816277 50816277 + Missense_Mutation SNP C C T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr16:50816277C>T c.1726C>T c.(1726-1728)Cca>Tca p.P576S LUSC 16 50821699 50821699 + Missense_Mutation SNP C C A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr16:50821699C>A c.2044C>A c.(2044-2046)Cct>Act p.P682T LUSC 16 50825602 50825602 + Splice_Site SNP G G T TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr16:50825602G>T c.e14+1 LUSC 16 50826618 50826618 + Splice_Site SNP T T A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr16:50826618T>A c.e15+2 LUSC 16 50828243 50828243 + Missense_Mutation SNP G G T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr16:50828243G>T c.2590G>T c.(2590-2592)Gtt>Ttt p.V864F LUSC 16 50830242 50830242 + Missense_Mutation SNP G G C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr16:50830242G>C c.2694G>C c.(2692-2694)caG>caC p.Q898H PAAD 16 50815323 50815323 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:50815323G>T c.e9+1 PAAD 16 50827516 50827516 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr16:50827516G>A c.2410G>A c.(2410-2412)Gac>Aac p.D804N PRAD 16 50828294 50828294 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:50828294G>A c.2641G>A c.(2641-2643)Gac>Aac p.D881N PRAD 16 50830336 50830336 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:50830336A>G c.2788A>G c.(2788-2790)Aga>Gga p.R930G READ 16 50783748 50783748 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:50783748G>T c.139G>T c.(139-141)Gga>Tga p.G47* READ 16 50810186 50810186 + Missense_Mutation SNP C C T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr16:50810186C>T c.1019C>T c.(1018-1020)aCa>aTa p.T340I READ 16 50811825 50811825 + Missense_Mutation SNP T T C TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr16:50811825T>C c.1111T>C c.(1111-1113)Tca>Cca p.S371P READ 16 50820850 50820850 + Silent SNP A A G TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr16:50820850A>G c.2034A>G c.(2032-2034)gaA>gaG p.E678E READ 16 50826539 50826539 + Missense_Mutation SNP G G T TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr16:50826539G>T c.2273G>T c.(2272-2274)cGa>cTa p.R758L READ 16 50826584 50826584 + Missense_Mutation SNP T T A TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr16:50826584T>A c.2318T>A c.(2317-2319)cTg>cAg p.L773Q READ 16 50828330 50828330 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:50828330G>A c.2677G>A c.(2677-2679)Gat>Aat p.D893N SKCM 16 50783723 50783723 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr16:50783723C>T c.114C>T c.(112-114)ctC>ctT p.L38L SKCM 16 50783766 50783766 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50783766C>T c.157C>T c.(157-159)Cgt>Tgt p.R53C SKCM 16 50785695 50785695 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr16:50785695C>T c.685C>T c.(685-687)Cct>Tct p.P229S SKCM 16 50811837 50811837 + Missense_Mutation SNP T T G TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr16:50811837T>G c.1123T>G c.(1123-1125)Tgg>Ggg p.W375G SKCM 16 50813599 50813599 + Missense_Mutation SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr16:50813599C>T c.1162C>T c.(1162-1164)Ctt>Ttt p.L388F SKCM 16 50813813 50813813 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:50813813C>T c.1376C>T c.(1375-1377)cCc>cTc p.P459L SKCM 16 50813885 50813885 + Missense_Mutation SNP C C T TCGA-ER-A1A1-06A-11D-A197-08 TCGA-ER-A1A1-10A-01D-A199-08 g.chr16:50813885C>T c.1448C>T c.(1447-1449)cCt>cTt p.P483L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 16 50833232 50833232 single base substitution C T 3_prime_UTR_variant BOCA-FR 16 50833232 50833232 single base substitution C T downstream_gene_variant BOCA-FR 16 50833232 50833232 single base substitution C T intron_variant BOCA-FR 16 50833232 50833232 single base substitution C T upstream_gene_variant BRCA-EU 16 50772419 50772419 single base substitution C G upstream_gene_variant BRCA-EU 16 50772530 50772530 insertion of <=200bp - G upstream_gene_variant BRCA-EU 16 50773936 50773936 single base substitution C T upstream_gene_variant BRCA-EU 16 50774067 50774067 single base substitution T A upstream_gene_variant BRCA-EU 16 50775916 50775916 single base substitution A G upstream_gene_variant BRCA-EU 16 50776400 50776400 single base substitution A G intron_variant BRCA-EU 16 50776400 50776400 single base substitution A G upstream_gene_variant BRCA-EU 16 50776684 50776684 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 50776684 50776684 single base substitution C G exon_variant BRCA-EU 16 50776684 50776684 single base substitution C G intron_variant BRCA-EU 16 50777612 50777612 single base substitution C A intron_variant BRCA-EU 16 50779283 50779283 single base substitution T C intron_variant BRCA-EU 16 50779283 50779283 single base substitution T C upstream_gene_variant BRCA-EU 16 50782809 50782809 single base substitution A C intron_variant BRCA-EU 16 50782809 50782809 single base substitution A C upstream_gene_variant BRCA-EU 16 50786483 50786483 single base substitution G A downstream_gene_variant BRCA-EU 16 50786483 50786483 single base substitution G A intron_variant BRCA-EU 16 50788214 50788214 single base substitution A C downstream_gene_variant BRCA-EU 16 50788214 50788214 single base substitution A C intron_variant BRCA-EU 16 50791501 50791501 single base substitution G T downstream_gene_variant BRCA-EU 16 50791501 50791501 single base substitution G T intron_variant BRCA-EU 16 50792702 50792702 single base substitution G A downstream_gene_variant BRCA-EU 16 50792702 50792702 single base substitution G A intron_variant BRCA-EU 16 50792985 50792985 single base substitution C G downstream_gene_variant BRCA-EU 16 50792985 50792985 single base substitution C G intron_variant BRCA-EU 16 50797048 50797048 single base substitution G T intron_variant BRCA-EU 16 50797195 50797195 single base substitution G T intron_variant BRCA-EU 16 50798023 50798023 single base substitution T C intron_variant BRCA-EU 16 50799034 50799034 single base substitution A G intron_variant BRCA-EU 16 50800174 50800174 single base substitution C T intron_variant BRCA-EU 16 50801062 50801062 single base substitution C G intron_variant BRCA-EU 16 50802274 50802275 deletion of <=200bp AA - intron_variant BRCA-EU 16 50802876 50802876 single base substitution T C intron_variant BRCA-EU 16 50805668 50805668 deletion of <=200bp T - intron_variant BRCA-EU 16 50805668 50805668 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 50806184 50806184 single base substitution A T intron_variant BRCA-EU 16 50806184 50806184 single base substitution A T upstream_gene_variant BRCA-EU 16 50807580 50807580 single base substitution C T intron_variant BRCA-EU 16 50807580 50807580 single base substitution C T upstream_gene_variant BRCA-EU 16 50807898 50807898 single base substitution C T intron_variant BRCA-EU 16 50807898 50807898 single base substitution C T upstream_gene_variant BRCA-EU 16 50808968 50808968 deletion of <=200bp T - intron_variant BRCA-EU 16 50808968 50808968 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 50809639 50809639 single base substitution C T intron_variant BRCA-EU 16 50809639 50809639 single base substitution C T upstream_gene_variant BRCA-EU 16 50810422 50810422 single base substitution C G intron_variant BRCA-EU 16 50810658 50810658 deletion of <=200bp T - intron_variant BRCA-EU 16 50812452 50812452 single base substitution G T downstream_gene_variant BRCA-EU 16 50812452 50812452 single base substitution G T intron_variant BRCA-EU 16 50813755 50813755 single base substitution C T downstream_gene_variant BRCA-EU 16 50813755 50813755 single base substitution C T exon_variant BRCA-EU 16 50813755 50813755 single base substitution C T intron_variant BRCA-EU 16 50813755 50813755 single base substitution C T synonymous_variant L437L 1309C>T BRCA-EU 16 50813755 50813755 single base substitution C T synonymous_variant L440L 1318C>T BRCA-EU 16 50814852 50814852 single base substitution C G downstream_gene_variant BRCA-EU 16 50814852 50814852 single base substitution C G intron_variant BRCA-EU 16 50816408 50816408 single base substitution A G downstream_gene_variant BRCA-EU 16 50816408 50816408 single base substitution A G intron_variant BRCA-EU 16 50816634 50816634 single base substitution C T downstream_gene_variant BRCA-EU 16 50816634 50816634 single base substitution C T intron_variant BRCA-EU 16 50817543 50817543 single base substitution G A intron_variant BRCA-EU 16 50818347 50818347 single base substitution T C exon_variant BRCA-EU 16 50818347 50818347 single base substitution T C missense_variant V460A 1379T>C BRCA-EU 16 50818347 50818347 single base substitution T C missense_variant V642A 1925T>C BRCA-EU 16 50818347 50818347 single base substitution T C missense_variant V645A 1934T>C BRCA-EU 16 50818450 50818450 single base substitution C G exon_variant BRCA-EU 16 50818450 50818450 single base substitution C G intron_variant BRCA-EU 16 50820149 50820149 single base substitution A T exon_variant BRCA-EU 16 50820149 50820149 single base substitution A T intron_variant BRCA-EU 16 50823644 50823644 deletion of <=200bp A - downstream_gene_variant BRCA-EU 16 50823644 50823644 deletion of <=200bp A - intron_variant BRCA-EU 16 50823644 50823644 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 50827110 50827110 single base substitution A C intron_variant BRCA-EU 16 50827110 50827110 single base substitution A C upstream_gene_variant BRCA-EU 16 50828863 50828863 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 50828863 50828863 insertion of <=200bp - T intron_variant BRCA-EU 16 50830638 50830638 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 16 50830638 50830638 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 50830638 50830638 deletion of <=200bp T - intron_variant BRCA-EU 16 50830638 50830638 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 50832166 50832166 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 50832166 50832166 single base substitution G A downstream_gene_variant BRCA-EU 16 50832166 50832166 single base substitution G A intron_variant BRCA-EU 16 50832166 50832166 single base substitution G A upstream_gene_variant BRCA-EU 16 50834065 50834065 single base substitution C G 3_prime_UTR_variant BRCA-EU 16 50834065 50834065 single base substitution C G downstream_gene_variant BRCA-EU 16 50834065 50834065 single base substitution C G intron_variant BRCA-EU 16 50834065 50834065 single base substitution C G upstream_gene_variant BRCA-EU 16 50834638 50834638 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 50834638 50834638 single base substitution C T downstream_gene_variant BRCA-EU 16 50834638 50834638 single base substitution C T exon_variant BRCA-EU 16 50834638 50834638 single base substitution C T intron_variant BRCA-EU 16 50835918 50835920 deletion of <=200bp TAA - downstream_gene_variant BRCA-EU 16 50836052 50836052 single base substitution C A downstream_gene_variant BRCA-EU 16 50836310 50836310 single base substitution C T downstream_gene_variant BRCA-EU 16 50839065 50839065 single base substitution G A downstream_gene_variant BRCA-EU 16 50840138 50840138 single base substitution G A downstream_gene_variant BRCA-FR 16 50772419 50772419 single base substitution C G upstream_gene_variant BRCA-FR 16 50775916 50775916 single base substitution A G upstream_gene_variant BRCA-FR 16 50776400 50776400 single base substitution A G intron_variant BRCA-FR 16 50776400 50776400 single base substitution A G upstream_gene_variant BRCA-FR 16 50790359 50790359 single base substitution C A downstream_gene_variant BRCA-FR 16 50790359 50790359 single base substitution C A intron_variant BRCA-FR 16 50790905 50790905 single base substitution C T downstream_gene_variant BRCA-FR 16 50790905 50790905 single base substitution C T intron_variant BRCA-FR 16 50810422 50810422 single base substitution C G intron_variant BRCA-FR 16 50818450 50818450 single base substitution C G exon_variant BRCA-FR 16 50818450 50818450 single base substitution C G intron_variant BRCA-FR 16 50832166 50832166 single base substitution G A 3_prime_UTR_variant BRCA-FR 16 50832166 50832166 single base substitution G A downstream_gene_variant BRCA-FR 16 50832166 50832166 single base substitution G A intron_variant BRCA-FR 16 50832166 50832166 single base substitution G A upstream_gene_variant BRCA-FR 16 50837414 50837414 single base substitution G C downstream_gene_variant BRCA-FR 16 50839265 50839265 single base substitution C G downstream_gene_variant BRCA-UK 16 50788214 50788214 single base substitution A C downstream_gene_variant BRCA-UK 16 50788214 50788214 single base substitution A C intron_variant BRCA-UK 16 50816408 50816408 single base substitution A G downstream_gene_variant BRCA-UK 16 50816408 50816408 single base substitution A G intron_variant BRCA-UK 16 50819921 50819921 single base substitution C A exon_variant BRCA-UK 16 50819921 50819921 single base substitution C A intron_variant BRCA-US 16 50783709 50783709 single base substitution C G exon_variant BRCA-US 16 50783709 50783709 single base substitution C G missense_variant Q34E 100C>G BRCA-US 16 50783709 50783709 single base substitution C G synonymous_variant ?34 BRCA-US 16 50783709 50783709 single base substitution C G upstream_gene_variant BRCA-US 16 50783750 50783750 single base substitution A G downstream_gene_variant BRCA-US 16 50783750 50783750 single base substitution A G exon_variant BRCA-US 16 50783750 50783750 single base substitution A G synonymous_variant G47G 141A>G BRCA-US 16 50783750 50783750 single base substitution A G upstream_gene_variant BRCA-US 16 50816338 50816338 single base substitution G A downstream_gene_variant BRCA-US 16 50816338 50816338 single base substitution G A exon_variant BRCA-US 16 50816338 50816338 single base substitution G A missense_variant G411D 1232G>A BRCA-US 16 50816338 50816338 single base substitution G A missense_variant G593D 1778G>A BRCA-US 16 50816338 50816338 single base substitution G A missense_variant G596D 1787G>A BRCA-US 16 50828137 50828137 single base substitution G A synonymous_variant P21P 63G>A BRCA-US 16 50828137 50828137 single base substitution G A synonymous_variant P643P 1929G>A BRCA-US 16 50828137 50828137 single base substitution G A synonymous_variant P825P 2475G>A BRCA-US 16 50828137 50828137 single base substitution G A synonymous_variant P828P 2484G>A BRCA-US 16 50828137 50828137 single base substitution G A upstream_gene_variant BTCA-JP 16 50776325 50776325 single base substitution C T intron_variant BTCA-JP 16 50776325 50776325 single base substitution C T upstream_gene_variant BTCA-JP 16 50815173 50815173 single base substitution G C downstream_gene_variant BTCA-JP 16 50815173 50815173 single base substitution G C exon_variant BTCA-JP 16 50815173 50815173 single base substitution G C intron_variant BTCA-JP 16 50815173 50815173 single base substitution G C missense_variant G509A 1526G>C BTCA-JP 16 50815173 50815173 single base substitution G C missense_variant G512A 1535G>C BTCA-JP 16 50816391 50816391 single base substitution G T downstream_gene_variant BTCA-JP 16 50816391 50816391 single base substitution G T intron_variant BTCA-JP 16 50825459 50825459 single base substitution G A downstream_gene_variant BTCA-JP 16 50825459 50825459 single base substitution G A intron_variant BTCA-JP 16 50825459 50825459 single base substitution G A upstream_gene_variant BTCA-JP 16 50827410 50827410 deletion of <=200bp T - intron_variant BTCA-JP 16 50827410 50827410 deletion of <=200bp T - upstream_gene_variant BTCA-JP 16 50829529 50829529 single base substitution C T 3_prime_UTR_variant BTCA-JP 16 50829529 50829529 single base substitution C T downstream_gene_variant BTCA-JP 16 50829529 50829529 single base substitution C T intron_variant BTCA-JP 16 50830266 50830266 single base substitution C A downstream_gene_variant BTCA-JP 16 50830266 50830266 single base substitution C A intron_variant BTCA-JP 16 50830266 50830266 single base substitution C A synonymous_variant V721V 2163C>A BTCA-JP 16 50830266 50830266 single base substitution C A synonymous_variant V903V 2709C>A BTCA-JP 16 50830266 50830266 single base substitution C A synonymous_variant V906V 2718C>A BTCA-JP 16 50830266 50830266 single base substitution C A upstream_gene_variant CESC-US 16 50783889 50783889 single base substitution G C downstream_gene_variant CESC-US 16 50783889 50783889 single base substitution G C exon_variant CESC-US 16 50783889 50783889 single base substitution G C missense_variant E94Q 280G>C CESC-US 16 50813848 50813848 single base substitution G C downstream_gene_variant CESC-US 16 50813848 50813848 single base substitution G C exon_variant CESC-US 16 50813848 50813848 single base substitution G C intron_variant CESC-US 16 50813848 50813848 single base substitution G C missense_variant E468Q 1402G>C CESC-US 16 50813848 50813848 single base substitution G C missense_variant E471Q 1411G>C CLLE-ES 16 50777216 50777216 single base substitution T C intron_variant CLLE-ES 16 50800581 50800581 single base substitution C A intron_variant CLLE-ES 16 50801365 50801365 single base substitution T C intron_variant CLLE-ES 16 50812697 50812697 single base substitution A T downstream_gene_variant CLLE-ES 16 50812697 50812697 single base substitution A T intron_variant CLLE-ES 16 50834742 50834742 single base substitution A G 3_prime_UTR_variant CLLE-ES 16 50834742 50834742 single base substitution A G downstream_gene_variant CLLE-ES 16 50834742 50834742 single base substitution A G exon_variant CLLE-ES 16 50834742 50834742 single base substitution A G missense_variant I63V 187A>G COAD-US 16 50783688 50783688 single base substitution G T exon_variant COAD-US 16 50783688 50783688 single base substitution G T stop_gained E27* 79G>T COAD-US 16 50783688 50783688 single base substitution G T upstream_gene_variant COAD-US 16 50783950 50783950 single base substitution A C downstream_gene_variant COAD-US 16 50783950 50783950 single base substitution A C exon_variant COAD-US 16 50783950 50783950 single base substitution A C missense_variant K114T 341A>C COAD-US 16 50785685 50785685 single base substitution C T downstream_gene_variant COAD-US 16 50785685 50785685 single base substitution C T exon_variant COAD-US 16 50785685 50785685 single base substitution C T synonymous_variant V225V 675C>T COAD-US 16 50788265 50788265 single base substitution T C downstream_gene_variant COAD-US 16 50788265 50788265 single base substitution T C exon_variant COAD-US 16 50788265 50788265 single base substitution T C synonymous_variant D281D 843T>C COAD-US 16 50813778 50813778 single base substitution A C downstream_gene_variant COAD-US 16 50813778 50813778 single base substitution A C exon_variant COAD-US 16 50813778 50813778 single base substitution A C intron_variant COAD-US 16 50813778 50813778 single base substitution A C missense_variant E444D 1332A>C COAD-US 16 50813778 50813778 single base substitution A C missense_variant E447D 1341A>C COAD-US 16 50815180 50815180 single base substitution G A downstream_gene_variant COAD-US 16 50815180 50815180 single base substitution G A exon_variant COAD-US 16 50815180 50815180 single base substitution G A intron_variant COAD-US 16 50815180 50815180 single base substitution G A synonymous_variant T511T 1533G>A COAD-US 16 50815180 50815180 single base substitution G A synonymous_variant T514T 1542G>A COAD-US 16 50816264 50816264 single base substitution A G downstream_gene_variant COAD-US 16 50816264 50816264 single base substitution A G exon_variant COAD-US 16 50816264 50816264 single base substitution A G synonymous_variant V386V 1158A>G COAD-US 16 50816264 50816264 single base substitution A G synonymous_variant V568V 1704A>G COAD-US 16 50816264 50816264 single base substitution A G synonymous_variant V571V 1713A>G COAD-US 16 50825519 50825519 deletion of <=200bp A - downstream_gene_variant COAD-US 16 50825519 50825519 deletion of <=200bp A - frameshift_variant E535 COAD-US 16 50825519 50825519 deletion of <=200bp A - frameshift_variant E717 COAD-US 16 50825519 50825519 deletion of <=200bp A - frameshift_variant E720 COAD-US 16 50825519 50825519 deletion of <=200bp A - upstream_gene_variant COCA-CN 16 50784074 50784074 single base substitution G T downstream_gene_variant COCA-CN 16 50784074 50784074 single base substitution G T exon_variant COCA-CN 16 50784074 50784074 single base substitution G T missense_variant E155D 465G>T COCA-CN 16 50784207 50784207 single base substitution G A downstream_gene_variant COCA-CN 16 50784207 50784207 single base substitution G A intron_variant COCA-CN 16 50792321 50792321 single base substitution G A downstream_gene_variant COCA-CN 16 50792321 50792321 single base substitution G A intron_variant COCA-CN 16 50813738 50813738 single base substitution G A downstream_gene_variant COCA-CN 16 50813738 50813738 single base substitution G A exon_variant COCA-CN 16 50813738 50813738 single base substitution G A intron_variant COCA-CN 16 50813738 50813738 single base substitution G A missense_variant G431D 1292G>A COCA-CN 16 50813738 50813738 single base substitution G A missense_variant G434D 1301G>A COCA-CN 16 50818215 50818215 single base substitution G T intron_variant COCA-CN 16 50821659 50821659 single base substitution T G downstream_gene_variant COCA-CN 16 50821659 50821659 single base substitution T G intron_variant COCA-CN 16 50821853 50821853 single base substitution T G downstream_gene_variant COCA-CN 16 50821853 50821853 single base substitution T G intron_variant COCA-CN 16 50840656 50840656 single base substitution G T downstream_gene_variant EOPC-DE 16 50775869 50775869 single base substitution G A upstream_gene_variant EOPC-DE 16 50791408 50791408 single base substitution A T downstream_gene_variant EOPC-DE 16 50791408 50791408 single base substitution A T intron_variant EOPC-DE 16 50808725 50808725 single base substitution C T intron_variant EOPC-DE 16 50808725 50808725 single base substitution C T upstream_gene_variant ESAD-UK 16 50773009 50773009 single base substitution C T upstream_gene_variant ESAD-UK 16 50773039 50773039 single base substitution C T upstream_gene_variant ESAD-UK 16 50773701 50773701 single base substitution A C upstream_gene_variant ESAD-UK 16 50776541 50776541 single base substitution G A intron_variant ESAD-UK 16 50776541 50776541 single base substitution G A upstream_gene_variant ESAD-UK 16 50779260 50779260 single base substitution C G intron_variant ESAD-UK 16 50779260 50779260 single base substitution C G upstream_gene_variant ESAD-UK 16 50779461 50779461 single base substitution C G intron_variant ESAD-UK 16 50779461 50779461 single base substitution C G upstream_gene_variant ESAD-UK 16 50779763 50779763 single base substitution G A intron_variant ESAD-UK 16 50779763 50779763 single base substitution G A upstream_gene_variant ESAD-UK 16 50780302 50780302 single base substitution C T intron_variant ESAD-UK 16 50780302 50780302 single base substitution C T upstream_gene_variant ESAD-UK 16 50784081 50784081 single base substitution G A downstream_gene_variant ESAD-UK 16 50784081 50784081 single base substitution G A exon_variant ESAD-UK 16 50784081 50784081 single base substitution G A missense_variant V158I 472G>A ESAD-UK 16 50786352 50786352 single base substitution A G downstream_gene_variant ESAD-UK 16 50786352 50786352 single base substitution A G intron_variant ESAD-UK 16 50787259 50787259 single base substitution G C downstream_gene_variant ESAD-UK 16 50787259 50787259 single base substitution G C intron_variant ESAD-UK 16 50787995 50787995 single base substitution A G downstream_gene_variant ESAD-UK 16 50787995 50787995 single base substitution A G intron_variant ESAD-UK 16 50790756 50790756 single base substitution A G downstream_gene_variant ESAD-UK 16 50790756 50790756 single base substitution A G intron_variant ESAD-UK 16 50791314 50791314 single base substitution A G downstream_gene_variant ESAD-UK 16 50791314 50791314 single base substitution A G intron_variant ESAD-UK 16 50792723 50792723 single base substitution G T downstream_gene_variant ESAD-UK 16 50792723 50792723 single base substitution G T intron_variant ESAD-UK 16 50793035 50793035 single base substitution C T downstream_gene_variant ESAD-UK 16 50793035 50793035 single base substitution C T intron_variant ESAD-UK 16 50793990 50793990 single base substitution C T intron_variant ESAD-UK 16 50796897 50796897 single base substitution C G intron_variant ESAD-UK 16 50798264 50798264 single base substitution T C intron_variant ESAD-UK 16 50802244 50802244 single base substitution G C intron_variant ESAD-UK 16 50802559 50802559 single base substitution T A intron_variant ESAD-UK 16 50804160 50804160 single base substitution T C intron_variant ESAD-UK 16 50804627 50804627 single base substitution G T intron_variant ESAD-UK 16 50805656 50805656 single base substitution A G intron_variant ESAD-UK 16 50805656 50805656 single base substitution A G upstream_gene_variant ESAD-UK 16 50805888 50805888 single base substitution A G intron_variant ESAD-UK 16 50805888 50805888 single base substitution A G upstream_gene_variant ESAD-UK 16 50806004 50806004 single base substitution T G intron_variant ESAD-UK 16 50806004 50806004 single base substitution T G upstream_gene_variant ESAD-UK 16 50806365 50806365 single base substitution A C intron_variant ESAD-UK 16 50806365 50806365 single base substitution A C upstream_gene_variant ESAD-UK 16 50810658 50810658 deletion of <=200bp T - intron_variant ESAD-UK 16 50812767 50812767 single base substitution T A downstream_gene_variant ESAD-UK 16 50812767 50812767 single base substitution T A intron_variant ESAD-UK 16 50813210 50813210 single base substitution C T downstream_gene_variant ESAD-UK 16 50813210 50813210 single base substitution C T intron_variant ESAD-UK 16 50813615 50813615 single base substitution C T downstream_gene_variant ESAD-UK 16 50813615 50813615 single base substitution C T exon_variant ESAD-UK 16 50813615 50813615 single base substitution C T intron_variant ESAD-UK 16 50813615 50813615 single base substitution C T missense_variant T390I 1169C>T ESAD-UK 16 50813615 50813615 single base substitution C T missense_variant T393I 1178C>T ESAD-UK 16 50813949 50813949 single base substitution G A downstream_gene_variant ESAD-UK 16 50813949 50813949 single base substitution G A exon_variant ESAD-UK 16 50813949 50813949 single base substitution G A intron_variant ESAD-UK 16 50813949 50813949 single base substitution G A synonymous_variant L501L 1503G>A ESAD-UK 16 50813949 50813949 single base substitution G A synonymous_variant L504L 1512G>A ESAD-UK 16 50814202 50814202 single base substitution C T downstream_gene_variant ESAD-UK 16 50814202 50814202 single base substitution C T intron_variant ESAD-UK 16 50814322 50814322 single base substitution C T downstream_gene_variant ESAD-UK 16 50814322 50814322 single base substitution C T intron_variant ESAD-UK 16 50816139 50816139 insertion of <=200bp - A downstream_gene_variant ESAD-UK 16 50816139 50816139 insertion of <=200bp - A intron_variant ESAD-UK 16 50819319 50819319 single base substitution C T exon_variant ESAD-UK 16 50819319 50819319 single base substitution C T intron_variant ESAD-UK 16 50819408 50819408 single base substitution C G exon_variant ESAD-UK 16 50819408 50819408 single base substitution C G intron_variant ESAD-UK 16 50822787 50822787 deletion of <=200bp T - downstream_gene_variant ESAD-UK 16 50822787 50822787 deletion of <=200bp T - intron_variant ESAD-UK 16 50822787 50822787 deletion of <=200bp T - upstream_gene_variant ESAD-UK 16 50822848 50822848 single base substitution G A downstream_gene_variant ESAD-UK 16 50822848 50822848 single base substitution G A intron_variant ESAD-UK 16 50822848 50822848 single base substitution G A upstream_gene_variant ESAD-UK 16 50823644 50823644 deletion of <=200bp A - downstream_gene_variant ESAD-UK 16 50823644 50823644 deletion of <=200bp A - intron_variant ESAD-UK 16 50823644 50823644 deletion of <=200bp A - upstream_gene_variant ESAD-UK 16 50827289 50827289 single base substitution A T intron_variant ESAD-UK 16 50827289 50827289 single base substitution A T upstream_gene_variant ESAD-UK 16 50828869 50828869 single base substitution T A downstream_gene_variant ESAD-UK 16 50828869 50828869 single base substitution T A intron_variant ESAD-UK 16 50829421 50829421 single base substitution T C downstream_gene_variant ESAD-UK 16 50829421 50829421 single base substitution T C intron_variant ESAD-UK 16 50831830 50831830 single base substitution A G 3_prime_UTR_variant ESAD-UK 16 50831830 50831830 single base substitution A G downstream_gene_variant ESAD-UK 16 50831830 50831830 single base substitution A G intron_variant ESAD-UK 16 50831830 50831830 single base substitution A G upstream_gene_variant ESAD-UK 16 50832176 50832176 single base substitution G T 3_prime_UTR_variant ESAD-UK 16 50832176 50832176 single base substitution G T downstream_gene_variant ESAD-UK 16 50832176 50832176 single base substitution G T intron_variant ESAD-UK 16 50832176 50832176 single base substitution G T upstream_gene_variant ESAD-UK 16 50832963 50832963 single base substitution G T 3_prime_UTR_variant ESAD-UK 16 50832963 50832963 single base substitution G T downstream_gene_variant ESAD-UK 16 50832963 50832963 single base substitution G T intron_variant ESAD-UK 16 50832963 50832963 single base substitution G T upstream_gene_variant ESAD-UK 16 50833075 50833075 single base substitution A G 3_prime_UTR_variant ESAD-UK 16 50833075 50833075 single base substitution A G downstream_gene_variant ESAD-UK 16 50833075 50833075 single base substitution A G intron_variant ESAD-UK 16 50833075 50833075 single base substitution A G upstream_gene_variant ESAD-UK 16 50833232 50833232 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 50833232 50833232 single base substitution C T downstream_gene_variant ESAD-UK 16 50833232 50833232 single base substitution C T intron_variant ESAD-UK 16 50833232 50833232 single base substitution C T upstream_gene_variant ESAD-UK 16 50836427 50836427 single base substitution G T downstream_gene_variant ESAD-UK 16 50836893 50836893 single base substitution C T downstream_gene_variant ESAD-UK 16 50837884 50837884 single base substitution C T downstream_gene_variant ESAD-UK 16 50838040 50838040 single base substitution C T downstream_gene_variant ESAD-UK 16 50840297 50840297 single base substitution T C downstream_gene_variant ESAD-UK 16 50840297 50840297 single base substitution T G downstream_gene_variant ESAD-UK 16 50840798 50840798 single base substitution T G downstream_gene_variant ESCA-CN 16 50788296 50788296 single base substitution G C downstream_gene_variant ESCA-CN 16 50788296 50788296 single base substitution G C exon_variant ESCA-CN 16 50788296 50788296 single base substitution G C missense_variant E292Q 874G>C ESCA-CN 16 50811745 50811745 single base substitution C G exon_variant ESCA-CN 16 50811745 50811745 single base substitution C G stop_gained S341* 1022C>G ESCA-CN 16 50811745 50811745 single base substitution C G stop_gained S344* 1031C>G GBM-US 16 50783900 50783900 single base substitution A G downstream_gene_variant GBM-US 16 50783900 50783900 single base substitution A G exon_variant GBM-US 16 50783900 50783900 single base substitution A G synonymous_variant T97T 291A>G GBM-US 16 50788289 50788289 single base substitution G A downstream_gene_variant GBM-US 16 50788289 50788289 single base substitution G A exon_variant GBM-US 16 50788289 50788289 single base substitution G A synonymous_variant A289A 867G>A GBM-US 16 50815179 50815179 single base substitution C T downstream_gene_variant GBM-US 16 50815179 50815179 single base substitution C T exon_variant GBM-US 16 50815179 50815179 single base substitution C T intron_variant GBM-US 16 50815179 50815179 single base substitution C T missense_variant T511M 1532C>T GBM-US 16 50815179 50815179 single base substitution C T missense_variant T514M 1541C>T KIRC-US 16 50783997 50783997 single base substitution C A downstream_gene_variant KIRC-US 16 50783997 50783997 single base substitution C A exon_variant KIRC-US 16 50783997 50783997 single base substitution C A missense_variant P130T 388C>A LAML-KR 16 50837309 50837309 single base substitution A C downstream_gene_variant LICA-CN 16 50815202 50815202 single base substitution C T downstream_gene_variant LICA-CN 16 50815202 50815202 single base substitution C T exon_variant LICA-CN 16 50815202 50815202 single base substitution C T intron_variant LICA-CN 16 50815202 50815202 single base substitution C T missense_variant R519W 1555C>T LICA-CN 16 50815202 50815202 single base substitution C T missense_variant R522W 1564C>T LICA-FR 16 50785679 50785679 single base substitution G A downstream_gene_variant LICA-FR 16 50785679 50785679 single base substitution G A exon_variant LICA-FR 16 50785679 50785679 single base substitution G A missense_variant M223I 669G>A LICA-FR 16 50810105 50810105 single base substitution A G exon_variant LICA-FR 16 50810105 50810105 single base substitution A G missense_variant E310G 929A>G LICA-FR 16 50810105 50810105 single base substitution A G missense_variant E313G 938A>G LICA-FR 16 50810105 50810105 single base substitution A G upstream_gene_variant LICA-FR 16 50813658 50813658 single base substitution G T downstream_gene_variant LICA-FR 16 50813658 50813658 single base substitution G T exon_variant LICA-FR 16 50813658 50813658 single base substitution G T intron_variant LICA-FR 16 50813658 50813658 single base substitution G T synonymous_variant V404V 1212G>T LICA-FR 16 50813658 50813658 single base substitution G T synonymous_variant V407V 1221G>T LICA-FR 16 50813914 50813914 single base substitution C A downstream_gene_variant LICA-FR 16 50813914 50813914 single base substitution C A exon_variant LICA-FR 16 50813914 50813914 single base substitution C A intron_variant LICA-FR 16 50813914 50813914 single base substitution C A missense_variant Q490K 1468C>A LICA-FR 16 50813914 50813914 single base substitution C A missense_variant Q493K 1477C>A LICA-FR 16 50817627 50817627 single base substitution T C intron_variant LICA-FR 16 50818327 50818327 single base substitution G A exon_variant LICA-FR 16 50818327 50818327 single base substitution G A synonymous_variant E453E 1359G>A LICA-FR 16 50818327 50818327 single base substitution G A synonymous_variant E635E 1905G>A LICA-FR 16 50818327 50818327 single base substitution G A synonymous_variant E638E 1914G>A LIHC-US 16 50815217 50815217 single base substitution G A downstream_gene_variant LIHC-US 16 50815217 50815217 single base substitution G A exon_variant LIHC-US 16 50815217 50815217 single base substitution G A intron_variant LIHC-US 16 50815217 50815217 single base substitution G A missense_variant A524T 1570G>A LIHC-US 16 50815217 50815217 single base substitution G A missense_variant A527T 1579G>A LINC-JP 16 50772532 50772532 single base substitution G A upstream_gene_variant LINC-JP 16 50788773 50788773 single base substitution C T downstream_gene_variant LINC-JP 16 50788773 50788773 single base substitution C T intron_variant LINC-JP 16 50791314 50791314 single base substitution A G downstream_gene_variant LINC-JP 16 50791314 50791314 single base substitution A G intron_variant LINC-JP 16 50808917 50808917 single base substitution T G intron_variant LINC-JP 16 50808917 50808917 single base substitution T G upstream_gene_variant LINC-JP 16 50810123 50810123 single base substitution T G exon_variant LINC-JP 16 50810123 50810123 single base substitution T G missense_variant L316R 947T>G LINC-JP 16 50810123 50810123 single base substitution T G missense_variant L319R 956T>G LINC-JP 16 50812137 50812137 single base substitution C G exon_variant LINC-JP 16 50812137 50812137 single base substitution C G intron_variant LINC-JP 16 50816708 50816708 deletion of <=200bp C - downstream_gene_variant LINC-JP 16 50816708 50816708 deletion of <=200bp C - intron_variant LINC-JP 16 50816875 50816875 single base substitution C G downstream_gene_variant LINC-JP 16 50816875 50816875 single base substitution C G intron_variant LINC-JP 16 50816960 50816960 single base substitution T C downstream_gene_variant LINC-JP 16 50816960 50816960 single base substitution T C intron_variant LINC-JP 16 50816972 50816972 single base substitution A G downstream_gene_variant LINC-JP 16 50816972 50816972 single base substitution A G intron_variant LINC-JP 16 50828542 50828542 single base substitution C T 3_prime_UTR_variant LINC-JP 16 50828542 50828542 single base substitution C T intron_variant LINC-JP 16 50828544 50828544 single base substitution T C 3_prime_UTR_variant LINC-JP 16 50828544 50828544 single base substitution T C intron_variant LINC-JP 16 50839885 50839885 single base substitution G T downstream_gene_variant LIRI-JP 16 50771093 50771093 single base substitution G A upstream_gene_variant LIRI-JP 16 50771700 50771700 single base substitution G A upstream_gene_variant LIRI-JP 16 50778975 50778975 single base substitution A G intron_variant LIRI-JP 16 50778975 50778975 single base substitution A G upstream_gene_variant LIRI-JP 16 50780444 50780444 single base substitution A G intron_variant LIRI-JP 16 50780444 50780444 single base substitution A G upstream_gene_variant LIRI-JP 16 50781053 50781053 single base substitution A G intron_variant LIRI-JP 16 50781053 50781053 single base substitution A G upstream_gene_variant LIRI-JP 16 50783861 50783863 deletion of <=200bp TGA - downstream_gene_variant LIRI-JP 16 50783861 50783863 deletion of <=200bp TGA - exon_variant LIRI-JP 16 50783861 50783863 deletion of <=200bp TGA - inframe_deletion VD84V LIRI-JP 16 50783861 50783863 deletion of <=200bp TGA - upstream_gene_variant LIRI-JP 16 50786377 50786377 single base substitution C T downstream_gene_variant LIRI-JP 16 50786377 50786377 single base substitution C T intron_variant LIRI-JP 16 50787410 50787410 single base substitution C A downstream_gene_variant LIRI-JP 16 50787410 50787410 single base substitution C A intron_variant LIRI-JP 16 50791772 50791772 single base substitution A C downstream_gene_variant LIRI-JP 16 50791772 50791772 single base substitution A C intron_variant LIRI-JP 16 50792267 50792267 single base substitution C T downstream_gene_variant LIRI-JP 16 50792267 50792267 single base substitution C T intron_variant LIRI-JP 16 50793476 50793476 single base substitution A G intron_variant LIRI-JP 16 50793848 50793848 single base substitution A G intron_variant LIRI-JP 16 50796389 50796389 single base substitution C G intron_variant LIRI-JP 16 50797753 50797753 single base substitution A G intron_variant LIRI-JP 16 50799070 50799070 single base substitution A G intron_variant LIRI-JP 16 50799304 50799304 single base substitution T C intron_variant LIRI-JP 16 50801105 50801105 single base substitution A C intron_variant LIRI-JP 16 50801124 50801124 single base substitution A G intron_variant LIRI-JP 16 50802555 50802555 single base substitution T A intron_variant LIRI-JP 16 50803697 50803697 single base substitution C T intron_variant LIRI-JP 16 50805413 50805413 single base substitution A C intron_variant LIRI-JP 16 50805413 50805413 single base substitution A C upstream_gene_variant LIRI-JP 16 50805572 50805572 insertion of <=200bp - TCTGTTTT intron_variant LIRI-JP 16 50805572 50805572 insertion of <=200bp - TCTGTTTT upstream_gene_variant LIRI-JP 16 50806802 50806802 single base substitution A G intron_variant LIRI-JP 16 50806802 50806802 single base substitution A G upstream_gene_variant LIRI-JP 16 50807767 50807767 single base substitution A G intron_variant LIRI-JP 16 50807767 50807767 single base substitution A G upstream_gene_variant LIRI-JP 16 50807929 50807929 single base substitution G A intron_variant LIRI-JP 16 50807929 50807929 single base substitution G A upstream_gene_variant LIRI-JP 16 50809405 50809405 single base substitution A G intron_variant LIRI-JP 16 50809405 50809405 single base substitution A G upstream_gene_variant LIRI-JP 16 50809427 50809427 single base substitution A G intron_variant LIRI-JP 16 50809427 50809427 single base substitution A G upstream_gene_variant LIRI-JP 16 50811804 50811804 single base substitution G A exon_variant LIRI-JP 16 50811804 50811804 single base substitution G A missense_variant D361N 1081G>A LIRI-JP 16 50811804 50811804 single base substitution G A missense_variant D364N 1090G>A LIRI-JP 16 50812053 50812053 single base substitution G T exon_variant LIRI-JP 16 50812053 50812053 single base substitution G T intron_variant LIRI-JP 16 50812097 50812097 single base substitution A G exon_variant LIRI-JP 16 50812097 50812097 single base substitution A G intron_variant LIRI-JP 16 50812276 50812276 single base substitution A G downstream_gene_variant LIRI-JP 16 50812276 50812276 single base substitution A G intron_variant LIRI-JP 16 50813147 50813147 single base substitution A G downstream_gene_variant LIRI-JP 16 50813147 50813147 single base substitution A G intron_variant LIRI-JP 16 50813315 50813315 single base substitution A G downstream_gene_variant LIRI-JP 16 50813315 50813315 single base substitution A G intron_variant LIRI-JP 16 50813376 50813376 single base substitution A C downstream_gene_variant LIRI-JP 16 50813376 50813376 single base substitution A C intron_variant LIRI-JP 16 50813377 50813377 single base substitution C G downstream_gene_variant LIRI-JP 16 50813377 50813377 single base substitution C G intron_variant LIRI-JP 16 50815276 50815276 single base substitution A G downstream_gene_variant LIRI-JP 16 50815276 50815276 single base substitution A G exon_variant LIRI-JP 16 50815276 50815276 single base substitution A G intron_variant LIRI-JP 16 50815276 50815276 single base substitution A G synonymous_variant A543A 1629A>G LIRI-JP 16 50815276 50815276 single base substitution A G synonymous_variant A546A 1638A>G LIRI-JP 16 50817414 50817414 single base substitution A T intron_variant LIRI-JP 16 50823015 50823015 single base substitution G T downstream_gene_variant LIRI-JP 16 50823015 50823015 single base substitution G T intron_variant LIRI-JP 16 50823015 50823015 single base substitution G T upstream_gene_variant LIRI-JP 16 50824491 50824491 single base substitution A G downstream_gene_variant LIRI-JP 16 50824491 50824491 single base substitution A G intron_variant LIRI-JP 16 50824491 50824491 single base substitution A G upstream_gene_variant LIRI-JP 16 50826177 50826177 single base substitution A G downstream_gene_variant LIRI-JP 16 50826177 50826177 single base substitution A G intron_variant LIRI-JP 16 50826177 50826177 single base substitution A G upstream_gene_variant LIRI-JP 16 50827199 50827199 single base substitution T G intron_variant LIRI-JP 16 50827199 50827199 single base substitution T G upstream_gene_variant LIRI-JP 16 50828116 50828116 single base substitution A G intron_variant LIRI-JP 16 50828116 50828116 single base substitution A G splice_region_variant LIRI-JP 16 50828116 50828116 single base substitution A G upstream_gene_variant LIRI-JP 16 50836872 50836872 single base substitution G T downstream_gene_variant LIRI-JP 16 50840297 50840297 single base substitution T G downstream_gene_variant LIRI-JP 16 50840773 50840773 single base substitution T A downstream_gene_variant LUSC-KR 16 50774224 50774224 single base substitution G T upstream_gene_variant LUSC-KR 16 50777602 50777602 single base substitution G T intron_variant LUSC-KR 16 50785550 50785550 single base substitution G T downstream_gene_variant LUSC-KR 16 50785550 50785550 single base substitution G T exon_variant LUSC-KR 16 50785550 50785550 single base substitution G T synonymous_variant V180V 540G>T LUSC-KR 16 50796282 50796282 single base substitution G T intron_variant LUSC-KR 16 50796880 50796880 single base substitution G T intron_variant LUSC-KR 16 50801685 50801685 single base substitution T A intron_variant LUSC-KR 16 50804374 50804374 single base substitution T A intron_variant LUSC-KR 16 50810493 50810493 single base substitution A T intron_variant LUSC-KR 16 50814397 50814397 single base substitution G T downstream_gene_variant LUSC-KR 16 50814397 50814397 single base substitution G T intron_variant LUSC-KR 16 50818673 50818673 single base substitution C G exon_variant LUSC-KR 16 50818673 50818673 single base substitution C G intron_variant LUSC-KR 16 50825362 50825362 single base substitution C G downstream_gene_variant LUSC-KR 16 50825362 50825362 single base substitution C G intron_variant LUSC-KR 16 50825362 50825362 single base substitution C G upstream_gene_variant LUSC-KR 16 50825884 50825884 single base substitution C A downstream_gene_variant LUSC-KR 16 50825884 50825884 single base substitution C A intron_variant LUSC-KR 16 50825884 50825884 single base substitution C A upstream_gene_variant LUSC-KR 16 50826585 50826585 single base substitution G A downstream_gene_variant LUSC-KR 16 50826585 50826585 single base substitution G A synonymous_variant L588L 1764G>A LUSC-KR 16 50826585 50826585 single base substitution G A synonymous_variant L770L 2310G>A LUSC-KR 16 50826585 50826585 single base substitution G A synonymous_variant L773L 2319G>A LUSC-KR 16 50826585 50826585 single base substitution G A upstream_gene_variant LUSC-KR 16 50828360 50828360 single base substitution C T intron_variant LUSC-KR 16 50828360 50828360 single base substitution C T synonymous_variant L52L 154C>T LUSC-KR 16 50828360 50828360 single base substitution C T synonymous_variant L96L 286C>T LUSC-KR 16 50831572 50831572 single base substitution G A 3_prime_UTR_variant LUSC-KR 16 50831572 50831572 single base substitution G A downstream_gene_variant LUSC-KR 16 50831572 50831572 single base substitution G A intron_variant LUSC-KR 16 50831572 50831572 single base substitution G A upstream_gene_variant LUSC-KR 16 50838434 50838434 single base substitution T A downstream_gene_variant LUSC-KR 16 50840283 50840283 single base substitution G A downstream_gene_variant LUSC-KR 16 50840284 50840284 single base substitution C A downstream_gene_variant LUSC-US 16 50783821 50783821 single base substitution G T downstream_gene_variant LUSC-US 16 50783821 50783821 single base substitution G T exon_variant LUSC-US 16 50783821 50783821 single base substitution G T missense_variant G71V 212G>T LUSC-US 16 50783821 50783821 single base substitution G T upstream_gene_variant LUSC-US 16 50810116 50810116 single base substitution C T exon_variant LUSC-US 16 50810116 50810116 single base substitution C T missense_variant P314S 940C>T LUSC-US 16 50810116 50810116 single base substitution C T missense_variant P317S 949C>T LUSC-US 16 50816277 50816277 single base substitution C T downstream_gene_variant LUSC-US 16 50816277 50816277 single base substitution C T exon_variant LUSC-US 16 50816277 50816277 single base substitution C T missense_variant P391S 1171C>T LUSC-US 16 50816277 50816277 single base substitution C T missense_variant P573S 1717C>T LUSC-US 16 50816277 50816277 single base substitution C T missense_variant P576S 1726C>T LUSC-US 16 50821699 50821699 single base substitution C A downstream_gene_variant LUSC-US 16 50821699 50821699 single base substitution C A missense_variant P497T 1489C>A LUSC-US 16 50821699 50821699 single base substitution C A missense_variant P679T 2035C>A LUSC-US 16 50821699 50821699 single base substitution C A missense_variant P682T 2044C>A LUSC-US 16 50825602 50825602 single base substitution G T downstream_gene_variant LUSC-US 16 50825602 50825602 single base substitution G T splice_donor_variant LUSC-US 16 50825602 50825602 single base substitution G T upstream_gene_variant LUSC-US 16 50826618 50826618 single base substitution T A downstream_gene_variant LUSC-US 16 50826618 50826618 single base substitution T A splice_donor_variant LUSC-US 16 50826618 50826618 single base substitution T A upstream_gene_variant LUSC-US 16 50828243 50828243 single base substitution G T missense_variant V13F 37G>T LUSC-US 16 50828243 50828243 single base substitution G T missense_variant V57F 169G>T LUSC-US 16 50828243 50828243 single base substitution G T missense_variant V679F 2035G>T LUSC-US 16 50828243 50828243 single base substitution G T missense_variant V861F 2581G>T LUSC-US 16 50828243 50828243 single base substitution G T missense_variant V864F 2590G>T LUSC-US 16 50830242 50830242 single base substitution G C downstream_gene_variant LUSC-US 16 50830242 50830242 single base substitution G C intron_variant LUSC-US 16 50830242 50830242 single base substitution G C missense_variant Q713H 2139G>C LUSC-US 16 50830242 50830242 single base substitution G C missense_variant Q895H 2685G>C LUSC-US 16 50830242 50830242 single base substitution G C missense_variant Q898H 2694G>C LUSC-US 16 50830242 50830242 single base substitution G C upstream_gene_variant MALY-DE 16 50773636 50773636 single base substitution C T upstream_gene_variant MALY-DE 16 50775000 50775000 single base substitution C G upstream_gene_variant MALY-DE 16 50788285 50788285 single base substitution T C downstream_gene_variant MALY-DE 16 50788285 50788285 single base substitution T C exon_variant MALY-DE 16 50788285 50788285 single base substitution T C missense_variant F288S 863T>C MALY-DE 16 50788928 50788928 insertion of <=200bp - ATAC downstream_gene_variant MALY-DE 16 50788928 50788928 insertion of <=200bp - ATAC intron_variant MALY-DE 16 50789159 50789159 single base substitution T C downstream_gene_variant MALY-DE 16 50789159 50789159 single base substitution T C intron_variant MALY-DE 16 50789305 50789305 single base substitution T C downstream_gene_variant MALY-DE 16 50789305 50789305 single base substitution T C intron_variant MALY-DE 16 50789320 50789320 single base substitution T C downstream_gene_variant MALY-DE 16 50789320 50789320 single base substitution T C intron_variant MALY-DE 16 50800472 50800472 deletion of <=200bp G - intron_variant MALY-DE 16 50806644 50806644 single base substitution T G intron_variant MALY-DE 16 50806644 50806644 single base substitution T G upstream_gene_variant MALY-DE 16 50816437 50816438 deletion of <=200bp GT - downstream_gene_variant MALY-DE 16 50816437 50816438 deletion of <=200bp GT - intron_variant MALY-DE 16 50821764 50821764 single base substitution G T downstream_gene_variant MALY-DE 16 50821764 50821764 single base substitution G T splice_donor_variant MALY-DE 16 50821805 50821805 single base substitution A G downstream_gene_variant MALY-DE 16 50821805 50821805 single base substitution A G intron_variant MALY-DE 16 50826565 50826565 single base substitution A T downstream_gene_variant MALY-DE 16 50826565 50826565 single base substitution A T stop_gained K582* 1744A>T MALY-DE 16 50826565 50826565 single base substitution A T stop_gained K764* 2290A>T MALY-DE 16 50826565 50826565 single base substitution A T stop_gained K767* 2299A>T MALY-DE 16 50826565 50826565 single base substitution A T upstream_gene_variant MALY-DE 16 50827027 50827028 deletion of <=200bp AC - intron_variant MALY-DE 16 50827027 50827028 deletion of <=200bp AC - upstream_gene_variant MALY-DE 16 50827510 50827510 single base substitution T A missense_variant C617S 1849T>A MALY-DE 16 50827510 50827510 single base substitution T A missense_variant C799S 2395T>A MALY-DE 16 50827510 50827510 single base substitution T A missense_variant C802S 2404T>A MALY-DE 16 50827510 50827510 single base substitution T A upstream_gene_variant MELA-AU 16 50771599 50771599 single base substitution G A upstream_gene_variant MELA-AU 16 50771620 50771620 single base substitution G A upstream_gene_variant MELA-AU 16 50771754 50771754 single base substitution G A upstream_gene_variant MELA-AU 16 50771778 50771778 single base substitution C T upstream_gene_variant MELA-AU 16 50772185 50772185 single base substitution G A upstream_gene_variant MELA-AU 16 50772679 50772679 single base substitution G A upstream_gene_variant MELA-AU 16 50772985 50772985 single base substitution G A upstream_gene_variant MELA-AU 16 50773527 50773527 single base substitution G A upstream_gene_variant MELA-AU 16 50773676 50773676 single base substitution T C upstream_gene_variant MELA-AU 16 50775174 50775174 single base substitution A G upstream_gene_variant MELA-AU 16 50775176 50775176 single base substitution G A upstream_gene_variant MELA-AU 16 50775705 50775705 single base substitution C T upstream_gene_variant MELA-AU 16 50775735 50775735 single base substitution C T upstream_gene_variant MELA-AU 16 50775863 50775863 single base substitution A G upstream_gene_variant MELA-AU 16 50775865 50775865 single base substitution G A upstream_gene_variant MELA-AU 16 50775932 50775932 single base substitution C T upstream_gene_variant MELA-AU 16 50775940 50775941 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 50775957 50775957 single base substitution C T upstream_gene_variant MELA-AU 16 50777834 50777834 single base substitution C T intron_variant MELA-AU 16 50779389 50779389 single base substitution C T intron_variant MELA-AU 16 50779389 50779389 single base substitution C T upstream_gene_variant MELA-AU 16 50779479 50779479 single base substitution C T intron_variant MELA-AU 16 50779479 50779479 single base substitution C T upstream_gene_variant MELA-AU 16 50780051 50780051 single base substitution C T intron_variant MELA-AU 16 50780051 50780051 single base substitution C T upstream_gene_variant MELA-AU 16 50781243 50781243 single base substitution A G intron_variant MELA-AU 16 50781243 50781243 single base substitution A G upstream_gene_variant MELA-AU 16 50781394 50781394 single base substitution A G intron_variant MELA-AU 16 50781394 50781394 single base substitution A G upstream_gene_variant MELA-AU 16 50782413 50782413 single base substitution C T intron_variant MELA-AU 16 50782413 50782413 single base substitution C T upstream_gene_variant MELA-AU 16 50782790 50782790 single base substitution C T intron_variant MELA-AU 16 50782790 50782790 single base substitution C T upstream_gene_variant MELA-AU 16 50783576 50783576 insertion of <=200bp - T 5_prime_UTR_variant MELA-AU 16 50783576 50783576 insertion of <=200bp - T exon_variant MELA-AU 16 50783576 50783576 insertion of <=200bp - T upstream_gene_variant MELA-AU 16 50784036 50784036 single base substitution C T downstream_gene_variant MELA-AU 16 50784036 50784036 single base substitution C T exon_variant MELA-AU 16 50784036 50784036 single base substitution C T missense_variant P143S 427C>T MELA-AU 16 50784219 50784219 single base substitution C T downstream_gene_variant MELA-AU 16 50784219 50784219 single base substitution C T intron_variant MELA-AU 16 50784255 50784255 single base substitution C T downstream_gene_variant MELA-AU 16 50784255 50784255 single base substitution C T intron_variant MELA-AU 16 50785462 50785462 single base substitution C T downstream_gene_variant MELA-AU 16 50785462 50785462 single base substitution C T intron_variant MELA-AU 16 50786182 50786182 single base substitution A G downstream_gene_variant MELA-AU 16 50786182 50786182 single base substitution A G intron_variant MELA-AU 16 50786716 50786716 single base substitution C T downstream_gene_variant MELA-AU 16 50786716 50786716 single base substitution C T intron_variant MELA-AU 16 50786989 50786989 single base substitution T C downstream_gene_variant MELA-AU 16 50786989 50786989 single base substitution T C intron_variant MELA-AU 16 50787186 50787186 single base substitution T C downstream_gene_variant MELA-AU 16 50787186 50787186 single base substitution T C intron_variant MELA-AU 16 50787768 50787768 single base substitution G A downstream_gene_variant MELA-AU 16 50787768 50787768 single base substitution G A intron_variant MELA-AU 16 50788941 50788941 single base substitution T G downstream_gene_variant MELA-AU 16 50788941 50788941 single base substitution T G intron_variant MELA-AU 16 50788948 50788948 single base substitution A G downstream_gene_variant MELA-AU 16 50788948 50788948 single base substitution A G intron_variant MELA-AU 16 50788993 50788993 single base substitution C T downstream_gene_variant MELA-AU 16 50788993 50788993 single base substitution C T intron_variant MELA-AU 16 50789021 50789021 single base substitution C T downstream_gene_variant MELA-AU 16 50789021 50789021 single base substitution C T intron_variant MELA-AU 16 50789063 50789063 single base substitution T C downstream_gene_variant MELA-AU 16 50789063 50789063 single base substitution T C intron_variant MELA-AU 16 50790179 50790179 single base substitution G A downstream_gene_variant MELA-AU 16 50790179 50790179 single base substitution G A intron_variant MELA-AU 16 50790732 50790732 single base substitution C T downstream_gene_variant MELA-AU 16 50790732 50790732 single base substitution C T intron_variant MELA-AU 16 50791645 50791645 single base substitution C T downstream_gene_variant MELA-AU 16 50791645 50791645 single base substitution C T intron_variant MELA-AU 16 50791648 50791648 single base substitution C T downstream_gene_variant MELA-AU 16 50791648 50791648 single base substitution C T intron_variant MELA-AU 16 50791950 50791950 single base substitution C T downstream_gene_variant MELA-AU 16 50791950 50791950 single base substitution C T intron_variant MELA-AU 16 50792166 50792166 single base substitution C T downstream_gene_variant MELA-AU 16 50792166 50792166 single base substitution C T intron_variant MELA-AU 16 50793243 50793243 single base substitution C T downstream_gene_variant MELA-AU 16 50793243 50793243 single base substitution C T intron_variant MELA-AU 16 50793366 50793366 single base substitution C T intron_variant MELA-AU 16 50794435 50794436 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 50794494 50794494 single base substitution A G intron_variant MELA-AU 16 50794876 50794876 single base substitution T A intron_variant MELA-AU 16 50795300 50795300 single base substitution C T intron_variant MELA-AU 16 50795320 50795320 single base substitution C T intron_variant MELA-AU 16 50795612 50795612 single base substitution C T intron_variant MELA-AU 16 50796060 50796060 single base substitution C T intron_variant MELA-AU 16 50796388 50796388 single base substitution C T intron_variant MELA-AU 16 50796515 50796515 single base substitution C T intron_variant MELA-AU 16 50796659 50796659 single base substitution C T intron_variant MELA-AU 16 50797830 50797830 single base substitution A G intron_variant MELA-AU 16 50798727 50798727 single base substitution C T intron_variant MELA-AU 16 50800074 50800074 single base substitution C T intron_variant MELA-AU 16 50801056 50801056 single base substitution C T intron_variant MELA-AU 16 50801260 50801260 single base substitution C T intron_variant MELA-AU 16 50801424 50801424 single base substitution A C intron_variant MELA-AU 16 50801617 50801617 single base substitution T G intron_variant MELA-AU 16 50801787 50801787 single base substitution G A intron_variant MELA-AU 16 50802421 50802421 single base substitution C T intron_variant MELA-AU 16 50802949 50802949 single base substitution C T intron_variant MELA-AU 16 50802987 50802987 single base substitution C T intron_variant MELA-AU 16 50804194 50804194 single base substitution C T intron_variant MELA-AU 16 50804317 50804317 single base substitution C T intron_variant MELA-AU 16 50804321 50804321 single base substitution C T intron_variant MELA-AU 16 50804484 50804484 single base substitution C T intron_variant MELA-AU 16 50804558 50804558 single base substitution C T intron_variant MELA-AU 16 50805230 50805230 single base substitution C T intron_variant MELA-AU 16 50805230 50805230 single base substitution C T upstream_gene_variant MELA-AU 16 50805743 50805743 single base substitution T A intron_variant MELA-AU 16 50805743 50805743 single base substitution T A upstream_gene_variant MELA-AU 16 50806231 50806231 single base substitution C T intron_variant MELA-AU 16 50806231 50806231 single base substitution C T upstream_gene_variant MELA-AU 16 50806541 50806541 single base substitution G C intron_variant MELA-AU 16 50806541 50806541 single base substitution G C upstream_gene_variant MELA-AU 16 50806684 50806684 single base substitution G A intron_variant MELA-AU 16 50806684 50806684 single base substitution G A upstream_gene_variant MELA-AU 16 50807246 50807246 single base substitution C T intron_variant MELA-AU 16 50807246 50807246 single base substitution C T upstream_gene_variant MELA-AU 16 50807555 50807555 single base substitution G A intron_variant MELA-AU 16 50807555 50807555 single base substitution G A upstream_gene_variant MELA-AU 16 50807890 50807890 single base substitution C T intron_variant MELA-AU 16 50807890 50807890 single base substitution C T upstream_gene_variant MELA-AU 16 50808104 50808104 single base substitution C T intron_variant MELA-AU 16 50808104 50808104 single base substitution C T upstream_gene_variant MELA-AU 16 50808430 50808430 single base substitution T C intron_variant MELA-AU 16 50808430 50808430 single base substitution T C upstream_gene_variant MELA-AU 16 50808618 50808618 single base substitution C T intron_variant MELA-AU 16 50808618 50808618 single base substitution C T upstream_gene_variant MELA-AU 16 50809058 50809058 single base substitution C T intron_variant MELA-AU 16 50809058 50809058 single base substitution C T upstream_gene_variant MELA-AU 16 50809174 50809174 single base substitution C T intron_variant MELA-AU 16 50809174 50809174 single base substitution C T upstream_gene_variant MELA-AU 16 50809452 50809452 single base substitution C T intron_variant MELA-AU 16 50809452 50809452 single base substitution C T upstream_gene_variant MELA-AU 16 50810419 50810419 single base substitution G A intron_variant MELA-AU 16 50811728 50811728 single base substitution T C intron_variant MELA-AU 16 50811728 50811728 single base substitution T C splice_region_variant MELA-AU 16 50812123 50812123 single base substitution C T exon_variant MELA-AU 16 50812123 50812123 single base substitution C T intron_variant MELA-AU 16 50813043 50813043 single base substitution C T downstream_gene_variant MELA-AU 16 50813043 50813043 single base substitution C T intron_variant MELA-AU 16 50813209 50813210 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 16 50813209 50813210 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 16 50813597 50813597 single base substitution C T downstream_gene_variant MELA-AU 16 50813597 50813597 single base substitution C T exon_variant MELA-AU 16 50813597 50813597 single base substitution C T intron_variant MELA-AU 16 50813597 50813597 single base substitution C T missense_variant S384F 1151C>T MELA-AU 16 50813597 50813597 single base substitution C T missense_variant S387F 1160C>T MELA-AU 16 50814524 50814524 single base substitution G A downstream_gene_variant MELA-AU 16 50814524 50814524 single base substitution G A intron_variant MELA-AU 16 50814687 50814687 single base substitution C T downstream_gene_variant MELA-AU 16 50814687 50814687 single base substitution C T intron_variant MELA-AU 16 50814771 50814771 single base substitution C T downstream_gene_variant MELA-AU 16 50814771 50814771 single base substitution C T intron_variant MELA-AU 16 50815050 50815050 single base substitution G A downstream_gene_variant MELA-AU 16 50815050 50815050 single base substitution G A intron_variant MELA-AU 16 50815186 50815186 single base substitution A T downstream_gene_variant MELA-AU 16 50815186 50815186 single base substitution A T exon_variant MELA-AU 16 50815186 50815186 single base substitution A T intron_variant MELA-AU 16 50815186 50815186 single base substitution A T synonymous_variant G513G 1539A>T MELA-AU 16 50815186 50815186 single base substitution A T synonymous_variant G516G 1548A>T MELA-AU 16 50816814 50816814 single base substitution G A downstream_gene_variant MELA-AU 16 50816814 50816814 single base substitution G A intron_variant MELA-AU 16 50817573 50817573 single base substitution C T intron_variant MELA-AU 16 50817922 50817922 single base substitution C T intron_variant MELA-AU 16 50818542 50818542 single base substitution C T exon_variant MELA-AU 16 50818542 50818542 single base substitution C T intron_variant MELA-AU 16 50818673 50818673 single base substitution C T exon_variant MELA-AU 16 50818673 50818673 single base substitution C T intron_variant MELA-AU 16 50818691 50818691 single base substitution C T exon_variant MELA-AU 16 50818691 50818691 single base substitution C T intron_variant MELA-AU 16 50818876 50818876 single base substitution C T exon_variant MELA-AU 16 50818876 50818876 single base substitution C T intron_variant MELA-AU 16 50818891 50818892 multiple base substitution (>=2bp and <=200bp) AA TT exon_variant MELA-AU 16 50818891 50818892 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 16 50819337 50819338 multiple base substitution (>=2bp and <=200bp) TC AT exon_variant MELA-AU 16 50819337 50819338 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 16 50819530 50819530 single base substitution G A exon_variant MELA-AU 16 50819530 50819530 single base substitution G A intron_variant MELA-AU 16 50819650 50819650 single base substitution C T exon_variant MELA-AU 16 50819650 50819650 single base substitution C T intron_variant MELA-AU 16 50821190 50821190 single base substitution C T downstream_gene_variant MELA-AU 16 50821190 50821190 single base substitution C T exon_variant MELA-AU 16 50821190 50821190 single base substitution C T intron_variant MELA-AU 16 50822069 50822069 single base substitution C T downstream_gene_variant MELA-AU 16 50822069 50822069 single base substitution C T intron_variant MELA-AU 16 50822202 50822202 single base substitution C T downstream_gene_variant MELA-AU 16 50822202 50822202 single base substitution C T intron_variant MELA-AU 16 50822521 50822521 single base substitution T C downstream_gene_variant MELA-AU 16 50822521 50822521 single base substitution T C intron_variant MELA-AU 16 50823284 50823284 single base substitution C T downstream_gene_variant MELA-AU 16 50823284 50823284 single base substitution C T intron_variant MELA-AU 16 50823284 50823284 single base substitution C T upstream_gene_variant MELA-AU 16 50823582 50823582 single base substitution A T downstream_gene_variant MELA-AU 16 50823582 50823582 single base substitution A T intron_variant MELA-AU 16 50823582 50823582 single base substitution A T upstream_gene_variant MELA-AU 16 50824245 50824245 single base substitution C T downstream_gene_variant MELA-AU 16 50824245 50824245 single base substitution C T intron_variant MELA-AU 16 50824245 50824245 single base substitution C T upstream_gene_variant MELA-AU 16 50824505 50824505 single base substitution T A downstream_gene_variant MELA-AU 16 50824505 50824505 single base substitution T A intron_variant MELA-AU 16 50824505 50824505 single base substitution T A upstream_gene_variant MELA-AU 16 50824664 50824664 single base substitution A G downstream_gene_variant MELA-AU 16 50824664 50824664 single base substitution A G intron_variant MELA-AU 16 50824664 50824664 single base substitution A G upstream_gene_variant MELA-AU 16 50825003 50825004 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 16 50825003 50825004 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 16 50825003 50825004 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 16 50825041 50825041 single base substitution C T downstream_gene_variant MELA-AU 16 50825041 50825041 single base substitution C T intron_variant MELA-AU 16 50825041 50825041 single base substitution C T upstream_gene_variant MELA-AU 16 50825936 50825936 single base substitution A T downstream_gene_variant MELA-AU 16 50825936 50825936 single base substitution A T intron_variant MELA-AU 16 50825936 50825936 single base substitution A T upstream_gene_variant MELA-AU 16 50825952 50825952 single base substitution C G downstream_gene_variant MELA-AU 16 50825952 50825952 single base substitution C G intron_variant MELA-AU 16 50825952 50825952 single base substitution C G upstream_gene_variant MELA-AU 16 50826340 50826340 single base substitution T C downstream_gene_variant MELA-AU 16 50826340 50826340 single base substitution T C intron_variant MELA-AU 16 50826340 50826340 single base substitution T C upstream_gene_variant MELA-AU 16 50827226 50827226 single base substitution G A intron_variant MELA-AU 16 50827226 50827226 single base substitution G A upstream_gene_variant MELA-AU 16 50827434 50827434 single base substitution C T intron_variant MELA-AU 16 50827434 50827434 single base substitution C T upstream_gene_variant MELA-AU 16 50827454 50827454 single base substitution C T splice_region_variant MELA-AU 16 50827454 50827454 single base substitution C T upstream_gene_variant MELA-AU 16 50827585 50827585 single base substitution C T intron_variant MELA-AU 16 50827585 50827585 single base substitution C T upstream_gene_variant MELA-AU 16 50827803 50827803 single base substitution G A intron_variant MELA-AU 16 50827803 50827803 single base substitution G A upstream_gene_variant MELA-AU 16 50828072 50828072 single base substitution C T intron_variant MELA-AU 16 50828072 50828072 single base substitution C T upstream_gene_variant MELA-AU 16 50828108 50828108 single base substitution C T intron_variant MELA-AU 16 50828108 50828108 single base substitution C T upstream_gene_variant MELA-AU 16 50828150 50828150 single base substitution C T missense_variant H26Y 76C>T MELA-AU 16 50828150 50828150 single base substitution C T missense_variant H648Y 1942C>T MELA-AU 16 50828150 50828150 single base substitution C T missense_variant H830Y 2488C>T MELA-AU 16 50828150 50828150 single base substitution C T missense_variant H833Y 2497C>T MELA-AU 16 50828150 50828150 single base substitution C T upstream_gene_variant MELA-AU 16 50828919 50828919 single base substitution C T downstream_gene_variant MELA-AU 16 50828919 50828919 single base substitution C T intron_variant MELA-AU 16 50829791 50829791 single base substitution G A downstream_gene_variant MELA-AU 16 50829791 50829791 single base substitution G A intron_variant MELA-AU 16 50829791 50829791 single base substitution G A upstream_gene_variant MELA-AU 16 50829877 50829877 single base substitution T G downstream_gene_variant MELA-AU 16 50829877 50829877 single base substitution T G intron_variant MELA-AU 16 50829877 50829877 single base substitution T G upstream_gene_variant MELA-AU 16 50830019 50830019 single base substitution C T downstream_gene_variant MELA-AU 16 50830019 50830019 single base substitution C T intron_variant MELA-AU 16 50830019 50830019 single base substitution C T upstream_gene_variant MELA-AU 16 50830048 50830048 single base substitution C T downstream_gene_variant MELA-AU 16 50830048 50830048 single base substitution C T intron_variant MELA-AU 16 50830048 50830048 single base substitution C T upstream_gene_variant MELA-AU 16 50830240 50830240 single base substitution C T downstream_gene_variant MELA-AU 16 50830240 50830240 single base substitution C T intron_variant MELA-AU 16 50830240 50830240 single base substitution C T stop_gained Q713* 2137C>T MELA-AU 16 50830240 50830240 single base substitution C T stop_gained Q895* 2683C>T MELA-AU 16 50830240 50830240 single base substitution C T stop_gained Q898* 2692C>T MELA-AU 16 50830240 50830240 single base substitution C T upstream_gene_variant MELA-AU 16 50830798 50830798 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50830798 50830798 single base substitution G A downstream_gene_variant MELA-AU 16 50830798 50830798 single base substitution G A intron_variant MELA-AU 16 50830798 50830798 single base substitution G A upstream_gene_variant MELA-AU 16 50830809 50830809 single base substitution C A 3_prime_UTR_variant MELA-AU 16 50830809 50830809 single base substitution C A downstream_gene_variant MELA-AU 16 50830809 50830809 single base substitution C A intron_variant MELA-AU 16 50830809 50830809 single base substitution C A upstream_gene_variant MELA-AU 16 50831092 50831092 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50831092 50831092 single base substitution C T downstream_gene_variant MELA-AU 16 50831092 50831092 single base substitution C T intron_variant MELA-AU 16 50831092 50831092 single base substitution C T upstream_gene_variant MELA-AU 16 50831769 50831770 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 16 50831769 50831770 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 50831769 50831770 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 50831769 50831770 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 50831988 50831988 single base substitution T G 3_prime_UTR_variant MELA-AU 16 50831988 50831988 single base substitution T G downstream_gene_variant MELA-AU 16 50831988 50831988 single base substitution T G intron_variant MELA-AU 16 50831988 50831988 single base substitution T G upstream_gene_variant MELA-AU 16 50832165 50832165 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50832165 50832165 single base substitution C T downstream_gene_variant MELA-AU 16 50832165 50832165 single base substitution C T intron_variant MELA-AU 16 50832165 50832165 single base substitution C T upstream_gene_variant MELA-AU 16 50832328 50832328 single base substitution A T 3_prime_UTR_variant MELA-AU 16 50832328 50832328 single base substitution A T downstream_gene_variant MELA-AU 16 50832328 50832328 single base substitution A T intron_variant MELA-AU 16 50832328 50832328 single base substitution A T upstream_gene_variant MELA-AU 16 50832375 50832375 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50832375 50832375 single base substitution G A downstream_gene_variant MELA-AU 16 50832375 50832375 single base substitution G A intron_variant MELA-AU 16 50832375 50832375 single base substitution G A upstream_gene_variant MELA-AU 16 50832549 50832549 single base substitution G C 3_prime_UTR_variant MELA-AU 16 50832549 50832549 single base substitution G C downstream_gene_variant MELA-AU 16 50832549 50832549 single base substitution G C intron_variant MELA-AU 16 50832549 50832549 single base substitution G C upstream_gene_variant MELA-AU 16 50832608 50832608 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50832608 50832608 single base substitution C T downstream_gene_variant MELA-AU 16 50832608 50832608 single base substitution C T intron_variant MELA-AU 16 50832608 50832608 single base substitution C T upstream_gene_variant MELA-AU 16 50832872 50832872 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50832872 50832872 single base substitution C T downstream_gene_variant MELA-AU 16 50832872 50832872 single base substitution C T intron_variant MELA-AU 16 50832872 50832872 single base substitution C T upstream_gene_variant MELA-AU 16 50832950 50832950 single base substitution A G 3_prime_UTR_variant MELA-AU 16 50832950 50832950 single base substitution A G downstream_gene_variant MELA-AU 16 50832950 50832950 single base substitution A G intron_variant MELA-AU 16 50832950 50832950 single base substitution A G upstream_gene_variant MELA-AU 16 50833752 50833752 single base substitution G A 3_prime_UTR_variant MELA-AU 16 50833752 50833752 single base substitution G A downstream_gene_variant MELA-AU 16 50833752 50833752 single base substitution G A intron_variant MELA-AU 16 50833752 50833752 single base substitution G A upstream_gene_variant MELA-AU 16 50834634 50834634 single base substitution T G 3_prime_UTR_variant MELA-AU 16 50834634 50834634 single base substitution T G downstream_gene_variant MELA-AU 16 50834634 50834634 single base substitution T G exon_variant MELA-AU 16 50834634 50834634 single base substitution T G intron_variant MELA-AU 16 50834653 50834653 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50834653 50834653 single base substitution C T downstream_gene_variant MELA-AU 16 50834653 50834653 single base substitution C T exon_variant MELA-AU 16 50834653 50834653 single base substitution C T intron_variant MELA-AU 16 50834708 50834708 single base substitution T C 3_prime_UTR_variant MELA-AU 16 50834708 50834708 single base substitution T C downstream_gene_variant MELA-AU 16 50834708 50834708 single base substitution T C exon_variant MELA-AU 16 50834708 50834708 single base substitution T C intron_variant MELA-AU 16 50834773 50834773 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50834773 50834773 single base substitution C T downstream_gene_variant MELA-AU 16 50834773 50834773 single base substitution C T exon_variant MELA-AU 16 50834966 50834966 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50834966 50834966 single base substitution C T downstream_gene_variant MELA-AU 16 50834966 50834966 single base substitution C T intron_variant MELA-AU 16 50835393 50835393 single base substitution C T 3_prime_UTR_variant MELA-AU 16 50835393 50835393 single base substitution C T downstream_gene_variant MELA-AU 16 50835393 50835393 single base substitution C T intron_variant MELA-AU 16 50835934 50835934 single base substitution T C downstream_gene_variant MELA-AU 16 50836778 50836778 single base substitution A T downstream_gene_variant MELA-AU 16 50837210 50837210 single base substitution G A downstream_gene_variant MELA-AU 16 50838224 50838224 single base substitution G A downstream_gene_variant MELA-AU 16 50838231 50838231 single base substitution C T downstream_gene_variant MELA-AU 16 50838531 50838532 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 50838561 50838561 single base substitution T C downstream_gene_variant MELA-AU 16 50839175 50839175 single base substitution C T downstream_gene_variant MELA-AU 16 50839475 50839475 single base substitution C T downstream_gene_variant MELA-AU 16 50839997 50839997 single base substitution C T downstream_gene_variant MELA-AU 16 50840258 50840258 single base substitution T A downstream_gene_variant MELA-AU 16 50840266 50840266 single base substitution G A downstream_gene_variant MELA-AU 16 50840618 50840618 single base substitution C T downstream_gene_variant MELA-AU 16 50840785 50840785 single base substitution C T downstream_gene_variant ORCA-IN 16 50774254 50774254 single base substitution C T upstream_gene_variant ORCA-IN 16 50783772 50783772 single base substitution G A downstream_gene_variant ORCA-IN 16 50783772 50783772 single base substitution G A exon_variant ORCA-IN 16 50783772 50783772 single base substitution G A missense_variant V55M 163G>A ORCA-IN 16 50783772 50783772 single base substitution G A upstream_gene_variant ORCA-IN 16 50785636 50785649 deletion of <=200bp ACACTGCATTGGAA - downstream_gene_variant ORCA-IN 16 50785636 50785649 deletion of <=200bp ACACTGCATTGGAA - exon_variant ORCA-IN 16 50785636 50785649 deletion of <=200bp ACACTGCATTGGAA - frameshift_variant DTALE209 ORCA-IN 16 50791935 50791935 single base substitution C G downstream_gene_variant ORCA-IN 16 50791935 50791935 single base substitution C G intron_variant ORCA-IN 16 50792403 50792403 single base substitution C T downstream_gene_variant ORCA-IN 16 50792403 50792403 single base substitution C T intron_variant ORCA-IN 16 50795687 50795687 insertion of <=200bp - TC intron_variant ORCA-IN 16 50799137 50799137 single base substitution C T intron_variant ORCA-IN 16 50815203 50815203 single base substitution G A downstream_gene_variant ORCA-IN 16 50815203 50815203 single base substitution G A exon_variant ORCA-IN 16 50815203 50815203 single base substitution G A intron_variant ORCA-IN 16 50815203 50815203 single base substitution G A missense_variant R519Q 1556G>A ORCA-IN 16 50815203 50815203 single base substitution G A missense_variant R522Q 1565G>A ORCA-IN 16 50815246 50815246 single base substitution G A downstream_gene_variant ORCA-IN 16 50815246 50815246 single base substitution G A exon_variant ORCA-IN 16 50815246 50815246 single base substitution G A intron_variant ORCA-IN 16 50815246 50815246 single base substitution G A synonymous_variant L533L 1599G>A ORCA-IN 16 50815246 50815246 single base substitution G A synonymous_variant L536L 1608G>A ORCA-IN 16 50815567 50815567 single base substitution C T downstream_gene_variant ORCA-IN 16 50815567 50815567 single base substitution C T intron_variant OV-AU 16 50775769 50775769 single base substitution C T upstream_gene_variant OV-AU 16 50776005 50776005 single base substitution G A 5_prime_UTR_variant OV-AU 16 50776005 50776005 single base substitution G A exon_variant OV-AU 16 50776005 50776005 single base substitution G A upstream_gene_variant OV-AU 16 50776172 50776172 single base substitution C T intron_variant OV-AU 16 50776172 50776172 single base substitution C T upstream_gene_variant OV-AU 16 50776258 50776258 single base substitution G A intron_variant OV-AU 16 50776258 50776258 single base substitution G A upstream_gene_variant OV-AU 16 50781231 50781231 single base substitution G A intron_variant OV-AU 16 50781231 50781231 single base substitution G A upstream_gene_variant OV-AU 16 50781854 50781854 single base substitution G C intron_variant OV-AU 16 50781854 50781854 single base substitution G C upstream_gene_variant OV-AU 16 50796294 50796294 single base substitution G A intron_variant OV-AU 16 50796484 50796484 single base substitution A C intron_variant OV-AU 16 50800997 50800997 single base substitution T G intron_variant OV-AU 16 50810943 50810943 single base substitution C G intron_variant OV-AU 16 50814214 50814214 single base substitution C T downstream_gene_variant OV-AU 16 50814214 50814214 single base substitution C T intron_variant OV-AU 16 50821235 50821235 single base substitution C G downstream_gene_variant OV-AU 16 50821235 50821235 single base substitution C G exon_variant OV-AU 16 50821235 50821235 single base substitution C G intron_variant OV-AU 16 50826356 50826356 single base substitution T A downstream_gene_variant OV-AU 16 50826356 50826356 single base substitution T A intron_variant OV-AU 16 50826356 50826356 single base substitution T A upstream_gene_variant OV-AU 16 50828329 50828329 single base substitution C T synonymous_variant A41A 123C>T OV-AU 16 50828329 50828329 single base substitution C T synonymous_variant A707A 2121C>T OV-AU 16 50828329 50828329 single base substitution C T synonymous_variant A85A 255C>T OV-AU 16 50828329 50828329 single base substitution C T synonymous_variant A889A 2667C>T OV-AU 16 50828329 50828329 single base substitution C T synonymous_variant A892A 2676C>T OV-AU 16 50828909 50828909 single base substitution G T downstream_gene_variant OV-AU 16 50828909 50828909 single base substitution G T intron_variant OV-AU 16 50830670 50830670 single base substitution C T 3_prime_UTR_variant OV-AU 16 50830670 50830670 single base substitution C T downstream_gene_variant OV-AU 16 50830670 50830670 single base substitution C T intron_variant OV-AU 16 50830670 50830670 single base substitution C T upstream_gene_variant OV-AU 16 50833440 50833440 single base substitution T A 3_prime_UTR_variant OV-AU 16 50833440 50833440 single base substitution T A downstream_gene_variant OV-AU 16 50833440 50833440 single base substitution T A intron_variant OV-AU 16 50833440 50833440 single base substitution T A upstream_gene_variant OV-AU 16 50833735 50833735 single base substitution C G 3_prime_UTR_variant OV-AU 16 50833735 50833735 single base substitution C G downstream_gene_variant OV-AU 16 50833735 50833735 single base substitution C G intron_variant OV-AU 16 50833735 50833735 single base substitution C G upstream_gene_variant OV-AU 16 50840766 50840766 single base substitution C T downstream_gene_variant PACA-AU 16 50774240 50774240 single base substitution G A upstream_gene_variant PACA-AU 16 50774979 50774979 single base substitution T C upstream_gene_variant PACA-AU 16 50783336 50783336 insertion of <=200bp - T intron_variant PACA-AU 16 50783336 50783336 insertion of <=200bp - T upstream_gene_variant PACA-AU 16 50783525 50783525 single base substitution C G 5_prime_UTR_variant PACA-AU 16 50783525 50783525 single base substitution C G exon_variant PACA-AU 16 50783525 50783525 single base substitution C G upstream_gene_variant PACA-AU 16 50784048 50784048 single base substitution C T downstream_gene_variant PACA-AU 16 50784048 50784048 single base substitution C T exon_variant PACA-AU 16 50784048 50784048 single base substitution C T missense_variant R147C 439C>T PACA-AU 16 50784891 50784891 single base substitution A C downstream_gene_variant PACA-AU 16 50784891 50784891 single base substitution A C intron_variant PACA-AU 16 50786775 50786775 single base substitution T C downstream_gene_variant PACA-AU 16 50786775 50786775 single base substitution T C intron_variant PACA-AU 16 50787585 50787585 single base substitution T C downstream_gene_variant PACA-AU 16 50787585 50787585 single base substitution T C intron_variant PACA-AU 16 50788226 50788226 single base substitution C A downstream_gene_variant PACA-AU 16 50788226 50788226 single base substitution C A intron_variant PACA-AU 16 50788226 50788226 single base substitution C A splice_region_variant PACA-AU 16 50788537 50788537 deletion of <=200bp C - downstream_gene_variant PACA-AU 16 50788537 50788537 deletion of <=200bp C - intron_variant PACA-AU 16 50788743 50788743 single base substitution G A downstream_gene_variant PACA-AU 16 50788743 50788743 single base substitution G A intron_variant PACA-AU 16 50790410 50790410 single base substitution T C downstream_gene_variant PACA-AU 16 50790410 50790410 single base substitution T C intron_variant PACA-AU 16 50794872 50794872 insertion of <=200bp - T intron_variant PACA-AU 16 50796297 50796297 single base substitution T C intron_variant PACA-AU 16 50799228 50799228 single base substitution C A intron_variant PACA-AU 16 50800822 50800822 single base substitution G T intron_variant PACA-AU 16 50802543 50802543 single base substitution T C intron_variant PACA-AU 16 50804368 50804368 single base substitution T C intron_variant PACA-AU 16 50805190 50805190 single base substitution C G intron_variant PACA-AU 16 50805190 50805190 single base substitution C G upstream_gene_variant PACA-AU 16 50811981 50811981 single base substitution T G exon_variant PACA-AU 16 50811981 50811981 single base substitution T G intron_variant PACA-AU 16 50813626 50813626 single base substitution C T downstream_gene_variant PACA-AU 16 50813626 50813626 single base substitution C T exon_variant PACA-AU 16 50813626 50813626 single base substitution C T intron_variant PACA-AU 16 50813626 50813626 single base substitution C T missense_variant R394C 1180C>T PACA-AU 16 50813626 50813626 single base substitution C T missense_variant R397C 1189C>T PACA-AU 16 50816264 50816264 single base substitution A C downstream_gene_variant PACA-AU 16 50816264 50816264 single base substitution A C exon_variant PACA-AU 16 50816264 50816264 single base substitution A C synonymous_variant V386V 1158A>C PACA-AU 16 50816264 50816264 single base substitution A C synonymous_variant V568V 1704A>C PACA-AU 16 50816264 50816264 single base substitution A C synonymous_variant V571V 1713A>C PACA-AU 16 50816516 50816516 single base substitution G A downstream_gene_variant PACA-AU 16 50816516 50816516 single base substitution G A intron_variant PACA-AU 16 50816581 50816581 single base substitution C T downstream_gene_variant PACA-AU 16 50816581 50816581 single base substitution C T intron_variant PACA-AU 16 50817031 50817031 single base substitution G A downstream_gene_variant PACA-AU 16 50817031 50817031 single base substitution G A intron_variant PACA-AU 16 50818321 50818321 single base substitution C A exon_variant PACA-AU 16 50818321 50818321 single base substitution C A synonymous_variant T451T 1353C>A PACA-AU 16 50818321 50818321 single base substitution C A synonymous_variant T633T 1899C>A PACA-AU 16 50818321 50818321 single base substitution C A synonymous_variant T636T 1908C>A PACA-AU 16 50818438 50818438 single base substitution A T exon_variant PACA-AU 16 50818438 50818438 single base substitution A T intron_variant PACA-AU 16 50820404 50820404 single base substitution C T exon_variant PACA-AU 16 50820404 50820404 single base substitution C T intron_variant PACA-AU 16 50825790 50825790 single base substitution A G downstream_gene_variant PACA-AU 16 50825790 50825790 single base substitution A G intron_variant PACA-AU 16 50825790 50825790 single base substitution A G upstream_gene_variant PACA-AU 16 50828674 50828674 single base substitution C T 3_prime_UTR_variant PACA-AU 16 50828674 50828674 single base substitution C T intron_variant PACA-AU 16 50838179 50838179 single base substitution T C downstream_gene_variant PACA-AU 16 50840245 50840245 single base substitution T C downstream_gene_variant PACA-CA 16 50774208 50774208 single base substitution C A upstream_gene_variant PACA-CA 16 50775852 50775852 single base substitution A T upstream_gene_variant PACA-CA 16 50776537 50776537 deletion of <=200bp C - intron_variant PACA-CA 16 50776537 50776537 deletion of <=200bp C - upstream_gene_variant PACA-CA 16 50780389 50780389 single base substitution A T intron_variant PACA-CA 16 50780389 50780389 single base substitution A T upstream_gene_variant PACA-CA 16 50784352 50784352 single base substitution C A downstream_gene_variant PACA-CA 16 50784352 50784352 single base substitution C A intron_variant PACA-CA 16 50785387 50785387 single base substitution G T downstream_gene_variant PACA-CA 16 50785387 50785387 single base substitution G T intron_variant PACA-CA 16 50789091 50789091 single base substitution T C downstream_gene_variant PACA-CA 16 50789091 50789091 single base substitution T C intron_variant PACA-CA 16 50792149 50792149 single base substitution G T downstream_gene_variant PACA-CA 16 50792149 50792149 single base substitution G T intron_variant PACA-CA 16 50793392 50793392 single base substitution C T intron_variant PACA-CA 16 50793531 50793531 single base substitution T C intron_variant PACA-CA 16 50795863 50795863 single base substitution G A intron_variant PACA-CA 16 50796918 50796918 single base substitution T G intron_variant PACA-CA 16 50806464 50806464 single base substitution T C intron_variant PACA-CA 16 50806464 50806464 single base substitution T C upstream_gene_variant PACA-CA 16 50807221 50807221 single base substitution G C intron_variant PACA-CA 16 50807221 50807221 single base substitution G C upstream_gene_variant PACA-CA 16 50812767 50812767 single base substitution T A downstream_gene_variant PACA-CA 16 50812767 50812767 single base substitution T A intron_variant PACA-CA 16 50815092 50815092 single base substitution T G downstream_gene_variant PACA-CA 16 50815092 50815092 single base substitution T G intron_variant PACA-CA 16 50816155 50816155 insertion of <=200bp - A downstream_gene_variant PACA-CA 16 50816155 50816155 insertion of <=200bp - A intron_variant PACA-CA 16 50816289 50816289 insertion of <=200bp - A downstream_gene_variant PACA-CA 16 50816289 50816289 insertion of <=200bp - A exon_variant PACA-CA 16 50816289 50816289 insertion of <=200bp - A frameshift_variant E395R? PACA-CA 16 50816289 50816289 insertion of <=200bp - A frameshift_variant E577R? PACA-CA 16 50816289 50816289 insertion of <=200bp - A frameshift_variant E580R? PACA-CA 16 50816927 50816927 single base substitution C G downstream_gene_variant PACA-CA 16 50816927 50816927 single base substitution C G intron_variant PACA-CA 16 50818755 50818755 single base substitution C A exon_variant PACA-CA 16 50818755 50818755 single base substitution C A intron_variant PACA-CA 16 50820866 50820866 single base substitution C G downstream_gene_variant PACA-CA 16 50820866 50820866 single base substitution C G exon_variant PACA-CA 16 50820866 50820866 single base substitution C G intron_variant PACA-CA 16 50823284 50823284 single base substitution C A downstream_gene_variant PACA-CA 16 50823284 50823284 single base substitution C A intron_variant PACA-CA 16 50823284 50823284 single base substitution C A upstream_gene_variant PACA-CA 16 50826283 50826283 single base substitution G A downstream_gene_variant PACA-CA 16 50826283 50826283 single base substitution G A intron_variant PACA-CA 16 50826283 50826283 single base substitution G A upstream_gene_variant PACA-CA 16 50826553 50826553 deletion of <=200bp T - downstream_gene_variant PACA-CA 16 50826553 50826553 deletion of <=200bp T - frameshift_variant F578 PACA-CA 16 50826553 50826553 deletion of <=200bp T - frameshift_variant F760 PACA-CA 16 50826553 50826553 deletion of <=200bp T - frameshift_variant F763 PACA-CA 16 50826553 50826553 deletion of <=200bp T - upstream_gene_variant PACA-CA 16 50829241 50829241 single base substitution T C downstream_gene_variant PACA-CA 16 50829241 50829241 single base substitution T C intron_variant PACA-CA 16 50830065 50830072 deletion of <=200bp ATGAGAAT - downstream_gene_variant PACA-CA 16 50830065 50830072 deletion of <=200bp ATGAGAAT - intron_variant PACA-CA 16 50830065 50830072 deletion of <=200bp ATGAGAAT - upstream_gene_variant PACA-CA 16 50830643 50830643 single base substitution T A 3_prime_UTR_variant PACA-CA 16 50830643 50830643 single base substitution T A downstream_gene_variant PACA-CA 16 50830643 50830643 single base substitution T A intron_variant PACA-CA 16 50830643 50830643 single base substitution T A upstream_gene_variant PACA-CA 16 50832228 50832228 single base substitution T A 3_prime_UTR_variant PACA-CA 16 50832228 50832228 single base substitution T A downstream_gene_variant PACA-CA 16 50832228 50832228 single base substitution T A intron_variant PACA-CA 16 50832228 50832228 single base substitution T A upstream_gene_variant PACA-CA 16 50832229 50832229 single base substitution A T 3_prime_UTR_variant PACA-CA 16 50832229 50832229 single base substitution A T downstream_gene_variant PACA-CA 16 50832229 50832229 single base substitution A T intron_variant PACA-CA 16 50832229 50832229 single base substitution A T upstream_gene_variant PACA-CA 16 50832323 50832323 single base substitution C T 3_prime_UTR_variant PACA-CA 16 50832323 50832323 single base substitution C T downstream_gene_variant PACA-CA 16 50832323 50832323 single base substitution C T intron_variant PACA-CA 16 50832323 50832323 single base substitution C T upstream_gene_variant PACA-CA 16 50832642 50832642 single base substitution C G 3_prime_UTR_variant PACA-CA 16 50832642 50832642 single base substitution C G downstream_gene_variant PACA-CA 16 50832642 50832642 single base substitution C G intron_variant PACA-CA 16 50832642 50832642 single base substitution C G upstream_gene_variant PACA-CA 16 50834900 50834900 single base substitution C T 3_prime_UTR_variant PACA-CA 16 50834900 50834900 single base substitution C T downstream_gene_variant PACA-CA 16 50834900 50834900 single base substitution C T intron_variant PACA-CA 16 50837049 50837049 single base substitution T C downstream_gene_variant PACA-CA 16 50838969 50838969 single base substitution A G downstream_gene_variant PACA-CA 16 50839388 50839388 single base substitution C T downstream_gene_variant PACA-CA 16 50840803 50840803 single base substitution T C downstream_gene_variant PACA-CA 16 50840828 50840828 single base substitution A G downstream_gene_variant PBCA-DE 16 50774037 50774037 single base substitution C T upstream_gene_variant PBCA-DE 16 50780453 50780453 single base substitution A G intron_variant PBCA-DE 16 50780453 50780453 single base substitution A G upstream_gene_variant PBCA-DE 16 50783841 50783841 single base substitution C A downstream_gene_variant PBCA-DE 16 50783841 50783841 single base substitution C A exon_variant PBCA-DE 16 50783841 50783841 single base substitution C A missense_variant P78T 232C>A PBCA-DE 16 50783841 50783841 single base substitution C A upstream_gene_variant PBCA-DE 16 50788787 50788787 insertion of <=200bp - TA downstream_gene_variant PBCA-DE 16 50788787 50788787 insertion of <=200bp - TA intron_variant PBCA-DE 16 50788857 50788857 single base substitution C T downstream_gene_variant PBCA-DE 16 50788857 50788857 single base substitution C T intron_variant PBCA-DE 16 50789083 50789084 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 16 50789083 50789084 deletion of <=200bp TG - intron_variant PBCA-DE 16 50791553 50791553 single base substitution T C downstream_gene_variant PBCA-DE 16 50791553 50791553 single base substitution T C intron_variant PBCA-DE 16 50795688 50795688 insertion of <=200bp - TC intron_variant PBCA-DE 16 50810658 50810658 insertion of <=200bp - T intron_variant PBCA-DE 16 50816437 50816438 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 16 50816437 50816438 deletion of <=200bp GT - intron_variant PBCA-DE 16 50821697 50821697 single base substitution A T downstream_gene_variant PBCA-DE 16 50821697 50821697 single base substitution A T missense_variant D496V 1487A>T PBCA-DE 16 50821697 50821697 single base substitution A T missense_variant D678V 2033A>T PBCA-DE 16 50821697 50821697 single base substitution A T missense_variant D681V 2042A>T PBCA-DE 16 50839347 50839347 single base substitution G T downstream_gene_variant PRAD-CA 16 50774545 50774545 single base substitution C G upstream_gene_variant PRAD-CA 16 50785946 50785946 single base substitution A T downstream_gene_variant PRAD-CA 16 50785946 50785946 single base substitution A T intron_variant PRAD-CA 16 50788899 50788899 single base substitution C T downstream_gene_variant PRAD-CA 16 50788899 50788899 single base substitution C T intron_variant PRAD-CA 16 50788900 50788900 single base substitution A G downstream_gene_variant PRAD-CA 16 50788900 50788900 single base substitution A G intron_variant PRAD-CA 16 50788993 50788993 single base substitution C T downstream_gene_variant PRAD-CA 16 50788993 50788993 single base substitution C T intron_variant PRAD-UK 16 50808075 50808075 single base substitution A T intron_variant PRAD-UK 16 50808075 50808075 single base substitution A T upstream_gene_variant PRAD-UK 16 50811643 50811643 single base substitution T A intron_variant PRAD-UK 16 50832228 50832228 single base substitution T A 3_prime_UTR_variant PRAD-UK 16 50832228 50832228 single base substitution T A downstream_gene_variant PRAD-UK 16 50832228 50832228 single base substitution T A intron_variant PRAD-UK 16 50832228 50832228 single base substitution T A upstream_gene_variant PRAD-UK 16 50832229 50832229 insertion of <=200bp - A 3_prime_UTR_variant PRAD-UK 16 50832229 50832229 insertion of <=200bp - A downstream_gene_variant PRAD-UK 16 50832229 50832229 insertion of <=200bp - A intron_variant PRAD-UK 16 50832229 50832229 insertion of <=200bp - A upstream_gene_variant PRAD-UK 16 50835643 50835643 single base substitution T G 3_prime_UTR_variant PRAD-UK 16 50835643 50835643 single base substitution T G downstream_gene_variant PRAD-UK 16 50835643 50835643 single base substitution T G intron_variant READ-US 16 50810186 50810186 single base substitution C T missense_variant T337I 1010C>T READ-US 16 50810186 50810186 single base substitution C T missense_variant T340I 1019C>T READ-US 16 50810186 50810186 single base substitution C T splice_region_variant READ-US 16 50813946 50813946 single base substitution A G downstream_gene_variant READ-US 16 50813946 50813946 single base substitution A G exon_variant READ-US 16 50813946 50813946 single base substitution A G intron_variant READ-US 16 50813946 50813946 single base substitution A G synonymous_variant G500G 1500A>G READ-US 16 50813946 50813946 single base substitution A G synonymous_variant G503G 1509A>G READ-US 16 50821705 50821705 single base substitution G A downstream_gene_variant READ-US 16 50821705 50821705 single base substitution G A missense_variant E499K 1495G>A READ-US 16 50821705 50821705 single base substitution G A missense_variant E681K 2041G>A READ-US 16 50821705 50821705 single base substitution G A missense_variant E684K 2050G>A READ-US 16 50826599 50826599 single base substitution C A downstream_gene_variant READ-US 16 50826599 50826599 single base substitution C A missense_variant T593K 1778C>A READ-US 16 50826599 50826599 single base substitution C A missense_variant T775K 2324C>A READ-US 16 50826599 50826599 single base substitution C A missense_variant T778K 2333C>A READ-US 16 50826599 50826599 single base substitution C A upstream_gene_variant RECA-EU 16 50784272 50784272 single base substitution G T downstream_gene_variant RECA-EU 16 50784272 50784272 single base substitution G T intron_variant RECA-EU 16 50804772 50804772 single base substitution A G intron_variant RECA-EU 16 50822650 50822650 single base substitution T C downstream_gene_variant RECA-EU 16 50822650 50822650 single base substitution T C intron_variant RECA-EU 16 50822650 50822650 single base substitution T C upstream_gene_variant RECA-EU 16 50828089 50828089 single base substitution G T intron_variant RECA-EU 16 50828089 50828089 single base substitution G T upstream_gene_variant RECA-EU 16 50830322 50830322 single base substitution C A downstream_gene_variant RECA-EU 16 50830322 50830322 single base substitution C A intron_variant RECA-EU 16 50830322 50830322 single base substitution C A missense_variant S740Y 2219C>A RECA-EU 16 50830322 50830322 single base substitution C A missense_variant S922Y 2765C>A RECA-EU 16 50830322 50830322 single base substitution C A missense_variant S925Y 2774C>A RECA-EU 16 50830322 50830322 single base substitution C A upstream_gene_variant RECA-EU 16 50831184 50831184 single base substitution T G 3_prime_UTR_variant RECA-EU 16 50831184 50831184 single base substitution T G downstream_gene_variant RECA-EU 16 50831184 50831184 single base substitution T G intron_variant RECA-EU 16 50831184 50831184 single base substitution T G upstream_gene_variant RECA-EU 16 50836456 50836456 single base substitution C T downstream_gene_variant RECA-EU 16 50836990 50836990 single base substitution C A downstream_gene_variant RECA-EU 16 50839449 50839449 single base substitution T A downstream_gene_variant SKCA-BR 16 50773135 50773135 single base substitution C T upstream_gene_variant SKCA-BR 16 50775984 50775984 single base substitution T G 5_prime_UTR_variant SKCA-BR 16 50775984 50775984 single base substitution T G exon_variant SKCA-BR 16 50775984 50775984 single base substitution T G upstream_gene_variant SKCA-BR 16 50776453 50776453 single base substitution T C intron_variant SKCA-BR 16 50776453 50776453 single base substitution T C upstream_gene_variant SKCA-BR 16 50778060 50778060 single base substitution C T intron_variant SKCA-BR 16 50783472 50783472 single base substitution C T 5_prime_UTR_variant SKCA-BR 16 50783472 50783472 single base substitution C T intron_variant SKCA-BR 16 50783472 50783472 single base substitution C T upstream_gene_variant SKCA-BR 16 50785915 50785929 deletion of <=200bp ACACACATATATATG - downstream_gene_variant SKCA-BR 16 50785915 50785929 deletion of <=200bp ACACACATATATATG - intron_variant SKCA-BR 16 50786182 50786182 single base substitution A G downstream_gene_variant SKCA-BR 16 50786182 50786182 single base substitution A G intron_variant SKCA-BR 16 50786591 50786591 single base substitution C T downstream_gene_variant SKCA-BR 16 50786591 50786591 single base substitution C T intron_variant SKCA-BR 16 50788869 50788869 single base substitution C A downstream_gene_variant SKCA-BR 16 50788869 50788869 single base substitution C A intron_variant SKCA-BR 16 50788891 50788927 deletion of <=200bp CATATATACATATATATGTATATATACATATATATGT - downstream_gene_variant SKCA-BR 16 50788891 50788927 deletion of <=200bp CATATATACATATATATGTATATATACATATATATGT - intron_variant SKCA-BR 16 50788999 50788999 insertion of <=200bp - TATATACATACATATATACAC downstream_gene_variant SKCA-BR 16 50788999 50788999 insertion of <=200bp - TATATACATACATATATACAC intron_variant SKCA-BR 16 50789021 50789021 single base substitution C T downstream_gene_variant SKCA-BR 16 50789021 50789021 single base substitution C T intron_variant SKCA-BR 16 50789025 50789025 single base substitution T C downstream_gene_variant SKCA-BR 16 50789025 50789025 single base substitution T C intron_variant SKCA-BR 16 50789027 50789027 single base substitution C T downstream_gene_variant SKCA-BR 16 50789027 50789027 single base substitution C T intron_variant SKCA-BR 16 50789029 50789035 deletion of <=200bp CATGTGT - downstream_gene_variant SKCA-BR 16 50789029 50789035 deletion of <=200bp CATGTGT - intron_variant SKCA-BR 16 50789048 50789048 single base substitution G A downstream_gene_variant SKCA-BR 16 50789048 50789048 single base substitution G A intron_variant SKCA-BR 16 50789050 50789050 single base substitution G A downstream_gene_variant SKCA-BR 16 50789050 50789050 single base substitution G A intron_variant SKCA-BR 16 50789055 50789055 single base substitution T C downstream_gene_variant SKCA-BR 16 50789055 50789055 single base substitution T C intron_variant SKCA-BR 16 50789062 50789062 single base substitution G A downstream_gene_variant SKCA-BR 16 50789062 50789062 single base substitution G A intron_variant SKCA-BR 16 50790420 50790420 single base substitution C T downstream_gene_variant SKCA-BR 16 50790420 50790420 single base substitution C T intron_variant SKCA-BR 16 50791367 50791367 single base substitution C T downstream_gene_variant SKCA-BR 16 50791367 50791367 single base substitution C T intron_variant SKCA-BR 16 50796298 50796298 single base substitution A G intron_variant SKCA-BR 16 50796347 50796347 single base substitution C T intron_variant SKCA-BR 16 50798411 50798411 single base substitution C T intron_variant SKCA-BR 16 50801525 50801525 single base substitution C T intron_variant SKCA-BR 16 50803987 50803987 single base substitution C T intron_variant SKCA-BR 16 50806858 50806858 single base substitution C T intron_variant SKCA-BR 16 50806858 50806858 single base substitution C T upstream_gene_variant SKCA-BR 16 50810998 50810999 deletion of <=200bp GT - intron_variant SKCA-BR 16 50821114 50821114 single base substitution C G downstream_gene_variant SKCA-BR 16 50821114 50821114 single base substitution C G exon_variant SKCA-BR 16 50821114 50821114 single base substitution C G intron_variant SKCA-BR 16 50821444 50821444 single base substitution A G downstream_gene_variant SKCA-BR 16 50821444 50821444 single base substitution A G exon_variant SKCA-BR 16 50821444 50821444 single base substitution A G intron_variant SKCA-BR 16 50827028 50827028 single base substitution C T intron_variant SKCA-BR 16 50827028 50827028 single base substitution C T upstream_gene_variant SKCA-BR 16 50827337 50827337 insertion of <=200bp - CT intron_variant SKCA-BR 16 50827337 50827337 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 16 50827831 50827831 insertion of <=200bp - AT intron_variant SKCA-BR 16 50827831 50827831 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 16 50828543 50828543 single base substitution C T 3_prime_UTR_variant SKCA-BR 16 50828543 50828543 single base substitution C T intron_variant SKCA-BR 16 50837540 50837540 single base substitution C T downstream_gene_variant SKCA-BR 16 50837550 50837550 single base substitution C T downstream_gene_variant SKCA-BR 16 50837551 50837551 single base substitution C T downstream_gene_variant SKCM-US 16 50783723 50783723 single base substitution C T downstream_gene_variant SKCM-US 16 50783723 50783723 single base substitution C T exon_variant SKCM-US 16 50783723 50783723 single base substitution C T synonymous_variant L38L 114C>T SKCM-US 16 50783723 50783723 single base substitution C T upstream_gene_variant SKCM-US 16 50783766 50783766 single base substitution C T downstream_gene_variant SKCM-US 16 50783766 50783766 single base substitution C T exon_variant SKCM-US 16 50783766 50783766 single base substitution C T missense_variant R53C 157C>T SKCM-US 16 50783766 50783766 single base substitution C T upstream_gene_variant SKCM-US 16 50785695 50785695 single base substitution C T downstream_gene_variant SKCM-US 16 50785695 50785695 single base substitution C T exon_variant SKCM-US 16 50785695 50785695 single base substitution C T missense_variant P229S 685C>T SKCM-US 16 50811837 50811837 single base substitution T G exon_variant SKCM-US 16 50811837 50811837 single base substitution T G missense_variant W372G 1114T>G SKCM-US 16 50811837 50811837 single base substitution T G missense_variant W375G 1123T>G SKCM-US 16 50813599 50813599 single base substitution C T downstream_gene_variant SKCM-US 16 50813599 50813599 single base substitution C T exon_variant SKCM-US 16 50813599 50813599 single base substitution C T intron_variant SKCM-US 16 50813599 50813599 single base substitution C T missense_variant L385F 1153C>T SKCM-US 16 50813599 50813599 single base substitution C T missense_variant L388F 1162C>T SKCM-US 16 50813813 50813813 single base substitution C T downstream_gene_variant SKCM-US 16 50813813 50813813 single base substitution C T exon_variant SKCM-US 16 50813813 50813813 single base substitution C T intron_variant SKCM-US 16 50813813 50813813 single base substitution C T missense_variant P456L 1367C>T SKCM-US 16 50813813 50813813 single base substitution C T missense_variant P459L 1376C>T SKCM-US 16 50813875 50813875 single base substitution G A downstream_gene_variant SKCM-US 16 50813875 50813875 single base substitution G A exon_variant SKCM-US 16 50813875 50813875 single base substitution G A intron_variant SKCM-US 16 50813875 50813875 single base substitution G A missense_variant E477K 1429G>A SKCM-US 16 50813875 50813875 single base substitution G A missense_variant E480K 1438G>A SKCM-US 16 50813885 50813885 single base substitution C T downstream_gene_variant SKCM-US 16 50813885 50813885 single base substitution C T exon_variant SKCM-US 16 50813885 50813885 single base substitution C T intron_variant SKCM-US 16 50813885 50813885 single base substitution C T missense_variant P480L 1439C>T SKCM-US 16 50813885 50813885 single base substitution C T missense_variant P483L 1448C>T SKCM-US 16 50815202 50815202 single base substitution C T downstream_gene_variant SKCM-US 16 50815202 50815202 single base substitution C T exon_variant SKCM-US 16 50815202 50815202 single base substitution C T intron_variant SKCM-US 16 50815202 50815202 single base substitution C T missense_variant R519W 1555C>T SKCM-US 16 50815202 50815202 single base substitution C T missense_variant R522W 1564C>T SKCM-US 16 50826577 50826577 single base substitution C T downstream_gene_variant SKCM-US 16 50826577 50826577 single base substitution C T missense_variant P586S 1756C>T SKCM-US 16 50826577 50826577 single base substitution C T missense_variant P768S 2302C>T SKCM-US 16 50826577 50826577 single base substitution C T missense_variant P771S 2311C>T SKCM-US 16 50826577 50826577 single base substitution C T upstream_gene_variant STAD-US 16 50783604 50783604 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant STAD-US 16 50783604 50783604 single base substitution A G exon_variant STAD-US 16 50783604 50783604 single base substitution A G upstream_gene_variant STAD-US 16 50783754 50783754 single base substitution T C downstream_gene_variant STAD-US 16 50783754 50783754 single base substitution T C exon_variant STAD-US 16 50783754 50783754 single base substitution T C missense_variant Y49H 145T>C STAD-US 16 50783754 50783754 single base substitution T C upstream_gene_variant STAD-US 16 50784016 50784016 single base substitution G T downstream_gene_variant STAD-US 16 50784016 50784016 single base substitution G T exon_variant STAD-US 16 50784016 50784016 single base substitution G T missense_variant R136I 407G>T STAD-US 16 50785592 50785592 single base substitution C T downstream_gene_variant STAD-US 16 50785592 50785592 single base substitution C T exon_variant STAD-US 16 50785592 50785592 single base substitution C T synonymous_variant G194G 582C>T STAD-US 16 50785686 50785686 single base substitution G A downstream_gene_variant STAD-US 16 50785686 50785686 single base substitution G A exon_variant STAD-US 16 50785686 50785686 single base substitution G A missense_variant E226K 676G>A STAD-US 16 50785785 50785785 single base substitution G A downstream_gene_variant STAD-US 16 50785785 50785785 single base substitution G A exon_variant STAD-US 16 50785785 50785785 single base substitution G A missense_variant E259K 775G>A STAD-US 16 50788337 50788337 single base substitution T C downstream_gene_variant STAD-US 16 50788337 50788337 single base substitution T C splice_donor_variant STAD-US 16 50813710 50813710 single base substitution A G downstream_gene_variant STAD-US 16 50813710 50813710 single base substitution A G exon_variant STAD-US 16 50813710 50813710 single base substitution A G intron_variant STAD-US 16 50813710 50813710 single base substitution A G missense_variant K422E 1264A>G STAD-US 16 50813710 50813710 single base substitution A G missense_variant K425E 1273A>G STAD-US 16 50813850 50813850 single base substitution A T downstream_gene_variant STAD-US 16 50813850 50813850 single base substitution A T exon_variant STAD-US 16 50813850 50813850 single base substitution A T intron_variant STAD-US 16 50813850 50813850 single base substitution A T missense_variant E468D 1404A>T STAD-US 16 50813850 50813850 single base substitution A T missense_variant E471D 1413A>T STAD-US 16 50813911 50813911 single base substitution G A downstream_gene_variant STAD-US 16 50813911 50813911 single base substitution G A exon_variant STAD-US 16 50813911 50813911 single base substitution G A intron_variant STAD-US 16 50813911 50813911 single base substitution G A missense_variant G489S 1465G>A STAD-US 16 50813911 50813911 single base substitution G A missense_variant G492S 1474G>A STAD-US 16 50815288 50815288 single base substitution G A downstream_gene_variant STAD-US 16 50815288 50815288 single base substitution G A exon_variant STAD-US 16 50815288 50815288 single base substitution G A intron_variant STAD-US 16 50815288 50815288 single base substitution G A synonymous_variant P547P 1641G>A STAD-US 16 50815288 50815288 single base substitution G A synonymous_variant P550P 1650G>A STAD-US 16 50825519 50825519 deletion of <=200bp A - downstream_gene_variant STAD-US 16 50825519 50825519 deletion of <=200bp A - frameshift_variant E535 STAD-US 16 50825519 50825519 deletion of <=200bp A - frameshift_variant E717 STAD-US 16 50825519 50825519 deletion of <=200bp A - frameshift_variant E720 STAD-US 16 50825519 50825519 deletion of <=200bp A - upstream_gene_variant STAD-US 16 50825577 50825577 single base substitution C G downstream_gene_variant STAD-US 16 50825577 50825577 single base substitution C G missense_variant I554M 1662C>G STAD-US 16 50825577 50825577 single base substitution C G missense_variant I736M 2208C>G STAD-US 16 50825577 50825577 single base substitution C G missense_variant I739M 2217C>G STAD-US 16 50825577 50825577 single base substitution C G upstream_gene_variant STAD-US 16 50826532 50826532 single base substitution A C downstream_gene_variant STAD-US 16 50826532 50826532 single base substitution A C missense_variant M571L 1711A>C STAD-US 16 50826532 50826532 single base substitution A C missense_variant M753L 2257A>C STAD-US 16 50826532 50826532 single base substitution A C missense_variant M756L 2266A>C STAD-US 16 50826532 50826532 single base substitution A C upstream_gene_variant STAD-US 16 50826538 50826538 single base substitution C T downstream_gene_variant STAD-US 16 50826538 50826538 single base substitution C T stop_gained R573* 1717C>T STAD-US 16 50826538 50826538 single base substitution C T stop_gained R755* 2263C>T STAD-US 16 50826538 50826538 single base substitution C T stop_gained R758* 2272C>T STAD-US 16 50826538 50826538 single base substitution C T upstream_gene_variant STAD-US 16 50826572 50826572 deletion of <=200bp T - downstream_gene_variant STAD-US 16 50826572 50826572 deletion of <=200bp T - frameshift_variant I584 STAD-US 16 50826572 50826572 deletion of <=200bp T - frameshift_variant I766 STAD-US 16 50826572 50826572 deletion of <=200bp T - frameshift_variant I769 STAD-US 16 50826572 50826572 deletion of <=200bp T - upstream_gene_variant STAD-US 16 50828188 50828188 single base substitution C T synonymous_variant P38P 114C>T STAD-US 16 50828188 50828188 single base substitution C T synonymous_variant P660P 1980C>T STAD-US 16 50828188 50828188 single base substitution C T synonymous_variant P842P 2526C>T STAD-US 16 50828188 50828188 single base substitution C T synonymous_variant P845P 2535C>T STAD-US 16 50828188 50828188 single base substitution C T upstream_gene_variant STAD-US 16 50830253 50830253 single base substitution A T downstream_gene_variant STAD-US 16 50830253 50830253 single base substitution A T intron_variant STAD-US 16 50830253 50830253 single base substitution A T missense_variant N717I 2150A>T STAD-US 16 50830253 50830253 single base substitution A T missense_variant N899I 2696A>T STAD-US 16 50830253 50830253 single base substitution A T missense_variant N902I 2705A>T STAD-US 16 50830253 50830253 single base substitution A T upstream_gene_variant STAD-US 16 50830292 50830292 single base substitution A G downstream_gene_variant STAD-US 16 50830292 50830292 single base substitution A G intron_variant STAD-US 16 50830292 50830292 single base substitution A G missense_variant Y730C 2189A>G STAD-US 16 50830292 50830292 single base substitution A G missense_variant Y912C 2735A>G STAD-US 16 50830292 50830292 single base substitution A G missense_variant Y915C 2744A>G STAD-US 16 50830292 50830292 single base substitution A G upstream_gene_variant UCEC-US 16 50783614 50783614 single base substitution G A exon_variant UCEC-US 16 50783614 50783614 single base substitution G A missense_variant S2N 5G>A UCEC-US 16 50783614 50783614 single base substitution G A upstream_gene_variant UCEC-US 16 50783682 50783682 single base substitution C A exon_variant UCEC-US 16 50783682 50783682 single base substitution C A missense_variant L25I 73C>A UCEC-US 16 50783682 50783682 single base substitution C A upstream_gene_variant UCEC-US 16 50783886 50783886 single base substitution A G downstream_gene_variant UCEC-US 16 50783886 50783886 single base substitution A G exon_variant UCEC-US 16 50783886 50783886 single base substitution A G missense_variant N93D 277A>G UCEC-US 16 50785567 50785567 single base substitution T G downstream_gene_variant UCEC-US 16 50785567 50785567 single base substitution T G exon_variant UCEC-US 16 50785567 50785567 single base substitution T G missense_variant L186R 557T>G UCEC-US 16 50785641 50785641 single base substitution G A downstream_gene_variant UCEC-US 16 50785641 50785641 single base substitution G A exon_variant UCEC-US 16 50785641 50785641 single base substitution G A missense_variant A211T 631G>A UCEC-US 16 50788285 50788285 single base substitution T G downstream_gene_variant UCEC-US 16 50788285 50788285 single base substitution T G exon_variant UCEC-US 16 50788285 50788285 single base substitution T G missense_variant F288C 863T>G UCEC-US 16 50788328 50788328 single base substitution C A downstream_gene_variant UCEC-US 16 50788328 50788328 single base substitution C A exon_variant UCEC-US 16 50788328 50788328 single base substitution C A synonymous_variant I302I 906C>A UCEC-US 16 50788329 50788329 single base substitution A G downstream_gene_variant UCEC-US 16 50788329 50788329 single base substitution A G exon_variant UCEC-US 16 50788329 50788329 single base substitution A G missense_variant I303V 907A>G UCEC-US 16 50813676 50813676 single base substitution G T downstream_gene_variant UCEC-US 16 50813676 50813676 single base substitution G T exon_variant UCEC-US 16 50813676 50813676 single base substitution G T intron_variant UCEC-US 16 50813676 50813676 single base substitution G T missense_variant E410D 1230G>T UCEC-US 16 50813676 50813676 single base substitution G T missense_variant E413D 1239G>T UCEC-US 16 50815308 50815308 single base substitution G A downstream_gene_variant UCEC-US 16 50815308 50815308 single base substitution G A exon_variant UCEC-US 16 50815308 50815308 single base substitution G A intron_variant UCEC-US 16 50815308 50815308 single base substitution G A missense_variant R554H 1661G>A UCEC-US 16 50815308 50815308 single base substitution G A missense_variant R557H 1670G>A UCEC-US 16 50815309 50815309 single base substitution C T downstream_gene_variant UCEC-US 16 50815309 50815309 single base substitution C T exon_variant UCEC-US 16 50815309 50815309 single base substitution C T intron_variant UCEC-US 16 50815309 50815309 single base substitution C T synonymous_variant R554R 1662C>T UCEC-US 16 50815309 50815309 single base substitution C T synonymous_variant R557R 1671C>T UCEC-US 16 50818257 50818257 single base substitution C A exon_variant UCEC-US 16 50818257 50818257 single base substitution C A missense_variant S430Y 1289C>A UCEC-US 16 50818257 50818257 single base substitution C A missense_variant S612Y 1835C>A UCEC-US 16 50818257 50818257 single base substitution C A missense_variant S615Y 1844C>A UCEC-US 16 50818327 50818327 single base substitution G A exon_variant UCEC-US 16 50818327 50818327 single base substitution G A synonymous_variant E453E 1359G>A UCEC-US 16 50818327 50818327 single base substitution G A synonymous_variant E635E 1905G>A UCEC-US 16 50818327 50818327 single base substitution G A synonymous_variant E638E 1914G>A UCEC-US 16 50821710 50821710 single base substitution C A downstream_gene_variant UCEC-US 16 50821710 50821710 single base substitution C A missense_variant F500L 1500C>A UCEC-US 16 50821710 50821710 single base substitution C A missense_variant F682L 2046C>A UCEC-US 16 50821710 50821710 single base substitution C A missense_variant F685L 2055C>A UCEC-US 16 50825508 50825508 single base substitution A C downstream_gene_variant UCEC-US 16 50825508 50825508 single base substitution A C missense_variant Q531H 1593A>C UCEC-US 16 50825508 50825508 single base substitution A C missense_variant Q713H 2139A>C UCEC-US 16 50825508 50825508 single base substitution A C missense_variant Q716H 2148A>C UCEC-US 16 50825508 50825508 single base substitution A C upstream_gene_variant UCEC-US 16 50825539 50825539 single base substitution G A downstream_gene_variant UCEC-US 16 50825539 50825539 single base substitution G A missense_variant V542I 1624G>A UCEC-US 16 50825539 50825539 single base substitution G A missense_variant V724I 2170G>A UCEC-US 16 50825539 50825539 single base substitution G A missense_variant V727I 2179G>A UCEC-US 16 50825539 50825539 single base substitution G A upstream_gene_variant UCEC-US 16 50825570 50825570 single base substitution C G downstream_gene_variant UCEC-US 16 50825570 50825570 single base substitution C G missense_variant S552C 1655C>G UCEC-US 16 50825570 50825570 single base substitution C G missense_variant S734C 2201C>G UCEC-US 16 50825570 50825570 single base substitution C G missense_variant S737C 2210C>G UCEC-US 16 50825570 50825570 single base substitution C G upstream_gene_variant UCEC-US 16 50826528 50826528 single base substitution T C downstream_gene_variant UCEC-US 16 50826528 50826528 single base substitution T C synonymous_variant I569I 1707T>C UCEC-US 16 50826528 50826528 single base substitution T C synonymous_variant I751I 2253T>C UCEC-US 16 50826528 50826528 single base substitution T C synonymous_variant I754I 2262T>C UCEC-US 16 50826528 50826528 single base substitution T C upstream_gene_variant UCEC-US 16 50827515 50827515 single base substitution C T synonymous_variant Y618Y 1854C>T UCEC-US 16 50827515 50827515 single base substitution C T synonymous_variant Y800Y 2400C>T UCEC-US 16 50827515 50827515 single base substitution C T synonymous_variant Y803Y 2409C>T UCEC-US 16 50827515 50827515 single base substitution C T upstream_gene_variant UCEC-US 16 50828274 50828274 single base substitution C A missense_variant A23D 68C>A UCEC-US 16 50828274 50828274 single base substitution C A missense_variant A67D 200C>A UCEC-US 16 50828274 50828274 single base substitution C A missense_variant A689D 2066C>A UCEC-US 16 50828274 50828274 single base substitution C A missense_variant A871D 2612C>A UCEC-US 16 50828274 50828274 single base substitution C A missense_variant A874D 2621C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T1154 COSM293626 c.2159delA p.N722fs*13 Deletion - Frameshift 16:50791608-50791608 + ESCC_146 COSM5644652 c.1339G>T p.E447* Substitution - Nonsense 16:50779865-50779865 + 2011-2352:2012-297-T COSM4605629 c.565T>C p.C189R Substitution - Missense 16:50751664-50751664 + 41T COSM2834412 c.163G>A p.V55M Substitution - Missense 16:50749861-50749861 + 6P2-1 COSM3734331 c.2075A>C p.H692P Substitution - Missense 16:50787819-50787819 + N-Thy004 COSM5094766 c.1940_1941delCT p.L648fs*19 Deletion - Frameshift 16:50784442-50784443 + TCGA-FW-A3R5-06 COSM3888622 c.157C>T p.R53C Substitution - Missense 16:50749855-50749855 + 1352688 COSM43400 c.1739_1740insTGGA p.E580fs*36 Insertion - Frameshift 16:50782379-50782380 + 504 COSM5611851 c.2146C>G p.Q716E Substitution - Missense 16:50791595-50791595 + AOCS-131-1-3 COSM3948580 c.2676C>T p.A892A Substitution - coding silent 16:50794418-50794418 + HCC122T COSM3510111 c.1564C>T p.R522W Substitution - Missense 16:50781291-50781291 + TCGA-BR-8591-01 COSM4061126 c.676G>A p.E226K Substitution - Missense 16:50751775-50751775 + 1308403 COSM21988 c.2272C>T p.R758* Substitution - Nonsense 16:50792627-50792627 + P-Thy002 COSM5095514 c.497A>G p.E166G Substitution - Missense 16:50750195-50750195 + 90273 COSM329291 c.340A>T p.K114* Substitution - Nonsense 16:50750038-50750038 + TCGA-CM-6678-01 COSM1378216 c.675C>T p.V225V Substitution - coding silent 16:50751774-50751774 + 437 COSM4434157 c.2329A>G p.I777V Substitution - Missense 16:50792684-50792684 + TCGA-BC-A69H-01 COSM2834435 c.1579G>A p.A527T Substitution - Missense 16:50781306-50781306 + Gp5D COSM2834436 c.1615T>C p.C539R Substitution - Missense 16:50781342-50781342 + LUAD-F00162 COSM366210 c.1196C>T p.S399L Substitution - Missense 16:50779722-50779722 + TCGA-F5-6814-01 COSM3421029 c.2333C>A p.T778K Substitution - Missense 16:50792688-50792688 + TCGA-19-2623-01 COSM3402351 c.1541C>T p.T514M Substitution - Missense 16:50781268-50781268 + 1032115 COSM23034 c.?_?del? p.? Unknown TCGA-06-0190-02 COSM35757 c.867G>A p.A289A Substitution - coding silent 16:50754378-50754378 + DM26 COSM5608181 c.1464C>T p.I488I Substitution - coding silent 16:50779990-50779990 + 8T COSM3718837 c.626_639del14 p.D209fs*2 Deletion - Frameshift 16:50751725-50751738 + STC232 COSM5054922 c.2328T>C p.N776N Substitution - coding silent 16:50792683-50792683 + 1352694 COSM43402 c.1112C>A p.S371* Substitution - Nonsense 16:50777915-50777915 + 10-276 COSM3736760 c.427C>T p.P143S Substitution - Missense 16:50750125-50750125 + PT29 COSM5906570 c.1799C>T p.S600F Substitution - Missense 16:50782439-50782439 + TCGA-A3-3376-01 COSM471801 c.388C>A p.P130T Substitution - Missense 16:50750086-50750086 + 1996419 COSM1666907 c.? p.? Unknown TCGA-06-0649-01 COSM2151526 c.291A>G p.T97T Substitution - coding silent 16:50749989-50749989 + 10-497 COSM293626 c.2159delA p.N722fs*13 Deletion - Frameshift 16:50791608-50791608 + 2081444 COSM1737935 c.1_2871del2871 p.0? Whole gene deletion 134413 COSM325101 c.1147G>T p.D383Y Substitution - Missense 16:50779673-50779673 + 2012-696:2012-1305-T COSM4061137 c.2705A>T p.N902I Substitution - Missense 16:50796342-50796342 + GB11 COSM1743132 c.2536G>T p.D846Y Substitution - Missense 16:50794278-50794278 + CHC1749T COSM971322 c.1914G>A p.E638E Substitution - coding silent 16:50784416-50784416 + CSCC-62-T COSM3736760 c.427C>T p.P143S Substitution - Missense 16:50750125-50750125 + 28 COSM4777808 c.1236_1237insC p.E413fs*65 Insertion - Frameshift 16:50779762-50779763 + EGC15 COSM5054920 c.1048A>G p.N350D Substitution - Missense 16:50777851-50777851 + TCGA-BR-8487-01 COSM4061135 c.2266A>C p.M756L Substitution - Missense 16:50792621-50792621 + TCGA-A5-A0VP-01 COSM971326 c.2179G>A p.V727I Substitution - Missense 16:50791628-50791628 + TCGA-AN-A046-01 COSM3818071 c.2484G>A p.P828P Substitution - coding silent 16:50794226-50794226 + TCGA-B5-A0JY-01 COSM971316 c.906C>A p.I302I Substitution - coding silent 16:50754417-50754417 + ESCC-098T COSM3937084 c.1031C>G p.S344* Substitution - Nonsense 16:50777834-50777834 + DM6 COSM5608190 c.1168G>A p.E390K Substitution - Missense 16:50779694-50779694 + MB_Exm17 COSM215651 c.2042A>T p.D681V Substitution - Missense 16:50787786-50787786 + TCGA-D1-A16Y-01 COSM971319 c.1670G>A p.R557H Substitution - Missense 16:50781397-50781397 + 2121505 COSM3355733 c.2665G>A p.D889N Substitution - Missense 16:50794407-50794407 + 8066437 COSM3771963 c.1713A>C p.V571V Substitution - coding silent 16:50782353-50782353 + CSCC-1-T COSM4532082 c.1852G>A p.D618N Substitution - Missense 16:50784354-50784354 + TCGA-EY-A1GS-01 COSM971327 c.2210C>G p.S737C Substitution - Missense 16:50791659-50791659 + 1507039 COSM87251 c.2319G>A p.L773L Substitution - coding silent 16:50792674-50792674 + TCGA-60-2725-01 COSM703516 c.2241+1G>T p.? Unknown 16:50791691-50791691 + T183M COSM307415 c.1715delA p.E573fs*14 Deletion - Frameshift 16:50782355-50782355 + DM26 COSM5608183 c.1350C>T p.N450N Substitution - coding silent 16:50779876-50779876 + HCT15 COSM2834412 c.163G>A p.V55M Substitution - Missense 16:50749861-50749861 + 1996385 COSM1666900 c.2359C>T p.Q787* Substitution - Nonsense 16:50793554-50793554 + PCA25-1 COSM5415732 c.2150T>A p.I717N Substitution - Missense 16:50791599-50791599 + SNU-C4 COSM4652753 c.1754A>G p.E585G Substitution - Missense 16:50782394-50782394 + TCGA-EE-A2GN-06 COSM3510108 c.1162C>T p.L388F Substitution - Missense 16:50779688-50779688 + 1352696 COSM43404 c.2806C>T p.R936* Substitution - Nonsense 16:50796443-50796443 + T3080 COSM293626 c.2159delA p.N722fs*13 Deletion - Frameshift 16:50791608-50791608 + DM10 COSM5608175 c.1650G>T p.P550P Substitution - coding silent 16:50781377-50781377 + YUKAT COSM5384960 c.1980G>A p.M660I Substitution - Missense 16:50786885-50786885 + SE4 COSM1165904 c.2554G>A p.G852S Substitution - Missense 16:50794296-50794296 + TCGA-CA-6717-01 COSM558068 c.341A>C p.K114T Substitution - Missense 16:50750039-50750039 + TCGA-B5-A0JY-01 COSM971322 c.1914G>A p.E638E Substitution - coding silent 16:50784416-50784416 + PT52 COSM5940598 c.1445C>T p.P482L Substitution - Missense 16:50779971-50779971 + TCGA-CG-5721-01 COSM4061123 c.145T>C p.Y49H Substitution - Missense 16:50749843-50749843 + 3N05-VS-3T05 COSM4978750 c.2559C>A p.C853* Substitution - Nonsense 16:50794301-50794301 + 2476_PT COSM5754866 c.2158G>A p.E720K Substitution - Missense 16:50791607-50791607 + PD9572a COSM5789489 c.1318C>T p.L440L Substitution - coding silent 16:50779844-50779844 + tumor_4111326 COSM5949994 c.2299A>T p.K767* Substitution - Nonsense 16:50792654-50792654 + 2081445 COSM1737935 c.1_2871del2871 p.0? Whole gene deletion 10-78 COSM1645459 c.2149A>T p.I717F Substitution - Missense 16:50791598-50791598 + tumor_4166151 COSM5948494 c.863T>C p.F288S Substitution - Missense 16:50754374-50754374 + cSCCP7 COSM140096 c.76C>T p.Q26* Substitution - Nonsense 16:50749774-50749774 + LOVO COSM2834409 c.117T>C p.L39L Substitution - coding silent 16:50749815-50749815 + 1996375 COSM36934 c.2032G>T p.E678* Substitution - Nonsense 16:50786937-50786937 + 1996394 COSM1666904 c.2242-2A>T p.? Unknown 16:50792595-50792595 + 1032120 COSM23032 c.? p.? Unknown TCGA-EB-A4IS-01 COSM3510109 c.1438G>A p.E480K Substitution - Missense 16:50779964-50779964 + 1352690 COSM43399 c.1794C>A p.Y598* Substitution - Nonsense 16:50782434-50782434 + 7T COSM5575679 c.1792T>C p.Y598H Substitution - Missense 16:50782432-50782432 + RK261_C02 COSM4943930 c.1638A>G p.A546A Substitution - coding silent 16:50781365-50781365 + 1996374 COSM1666899 c.2156_2157insT p.M719fs*5 Insertion - Frameshift 16:50791605-50791606 + TCGA-EE-A29M-06 COSM3510105 c.114C>T p.L38L Substitution - coding silent 16:50749812-50749812 + 6P2-2 COSM3734331 c.2075A>C p.H692P Substitution - Missense 16:50787819-50787819 + RKO COSM4647938 c.657T>C p.P219P Substitution - coding silent 16:50751756-50751756 + EGC15 COSM5054921 c.1130T>C p.I377T Substitution - Missense 16:50777933-50777933 + Pat_41_B COSM5851019 c.1372C>T p.P458S Substitution - Missense 16:50779898-50779898 + TCGA-DY-A1DC-01 COSM1563092 c.1019C>T p.T340I Substitution - Missense 16:50776275-50776275 + SH-4435 COSM5020076 c.2412C>T p.D804D Substitution - coding silent 16:50793607-50793607 + ESO-105 COSM1249556 c.1505C>T p.A502V Substitution - Missense 16:50780031-50780031 + TCGA-06-0649 COSM2151526 c.291A>G p.T97T Substitution - coding silent 16:50749989-50749989 + N-Thy011 COSM5095279 c.1477C>T p.Q493* Substitution - Nonsense 16:50780003-50780003 + TCGA-BR-A4QL-01 COSM21988 c.2272C>T p.R758* Substitution - Nonsense 16:50792627-50792627 + PD11756a COSM5783336 c.1934T>C p.V645A Substitution - Missense 16:50784436-50784436 + C0097T COSM4151351 c.2774C>A p.S925Y Substitution - Missense 16:50796411-50796411 + TCGA-BR-8589-01 COSM4061137 c.2705A>T p.N902I Substitution - Missense 16:50796342-50796342 + ID43 COSM1166719 c.1469G>T p.W490L Substitution - Missense 16:50779995-50779995 + 1352699 COSM21989 c.2713C>T p.Q905* Substitution - Nonsense 16:50796350-50796350 + 1032119 COSM21989 c.2713C>T p.Q905* Substitution - Nonsense 16:50796350-50796350 + Gp2D COSM2834436 c.1615T>C p.C539R Substitution - Missense 16:50781342-50781342 + SNUH_G22_S1 COSM3999870 c.2602G>A p.E868K Substitution - Missense 16:50794344-50794344 + TCGA-D7-6528-01 COSM4061134 c.2217C>G p.I739M Substitution - Missense 16:50791666-50791666 + 2081350 COSM1737934 c.1094C>G p.S365* Substitution - Nonsense 16:50777897-50777897 + P-Thy002 COSM5095518 c.2305A>T p.I769F Substitution - Missense 16:50792660-50792660 + TCGA-CD-8529-01 COSM4061130 c.1413A>T p.E471D Substitution - Missense 16:50779939-50779939 + P-Thy002 COSM5095509 c.2684A>G p.D895G Substitution - Missense 16:50794426-50794426 + DM10 COSM5608179 c.1796A>G p.N599S Substitution - Missense 16:50782436-50782436 + CHC1749T COSM971322 c.1914G>A p.E638E Substitution - coding silent 16:50784416-50784416 + TCGA-AG-A002-01 COSM260350 c.2677G>A p.D893N Substitution - Missense 16:50794419-50794419 + SH-5693 COSM5020076 c.2412C>T p.D804D Substitution - coding silent 16:50793607-50793607 + TCGA-EE-A181-06 COSM3510106 c.685C>T p.P229S Substitution - Missense 16:50751784-50751784 + BCM711T COSM4956043 c.1221G>T p.V407V Substitution - coding silent 16:50779747-50779747 + HCC2998 COSM2834408 c.101A>C p.Q34P Substitution - Missense 16:50749799-50749799 + 1996389 COSM1666901 c.2630_2630delA p.K877fs*36 Deletion - Frameshift 16:50794372-50794372 + CSCC-62-T COSM4569513 c.1807T>C p.L603L Substitution - coding silent 16:50782447-50782447 + 1032117 COSM21988 c.2272C>T p.R758* Substitution - Nonsense 16:50792627-50792627 + OSCC-GB_00410111 COSM2834412 c.163G>A p.V55M Substitution - Missense 16:50749861-50749861 + 1352700 COSM43405 c.2046_2047insAGATCCG p.E683fs*43 Insertion - Frameshift 16:50787790-50787791 + HN_62755 COSM127753 c.1554C>T p.F518F Substitution - coding silent 16:50781281-50781281 + 1996420 COSM1666909 c.2119C>T p.Q707* Substitution - Nonsense 16:50791568-50791568 + 2081367 COSM1737935 c.1_2871del2871 p.0? Whole gene deletion TCGA-AA-3713-01 COSM190565 c.1542G>A p.T514T Substitution - coding silent 16:50781269-50781269 + ESCC-153T COSM3937083 c.874G>C p.E292Q Substitution - Missense 16:50754385-50754385 + TCGA-BR-8361-01 COSM4061125 c.582C>T p.G194G Substitution - coding silent 16:50751681-50751681 + TCGA-37-3783-01 COSM703513 c.2694G>C p.Q898H Substitution - Missense 16:50796331-50796331 + TCGA-22-5473-01 COSM703521 c.212G>T p.G71V Substitution - Missense 16:50749910-50749910 + DM10 COSM5608177 c.2676C>A p.A892A Substitution - coding silent 16:50794418-50794418 + TCGA-AX-A0J0-01 COSM971310 c.5G>A p.S2N Substitution - Missense 16:50749703-50749703 + TCGA-D1-A103-01 COSM971311 c.73C>A p.L25I Substitution - Missense 16:50749771-50749771 + TCGA-AX-A05Z-01 COSM971325 c.2148A>C p.Q716H Substitution - Missense 16:50791597-50791597 + TCGA-AZ-4315-01 COSM1378222 c.1341A>C p.E447D Substitution - Missense 16:50779867-50779867 + 1432874 COSM49163 c.2322_2322delA p.E774fs*2 Deletion - Frameshift 16:50792677-50792677 + 2081443 COSM1737935 c.1_2871del2871 p.0? Whole gene deletion TCGA-AP-A059-01 COSM971312 c.277A>G p.N93D Substitution - Missense 16:50749975-50749975 + TCGA-ER-A1A1-06 COSM3510110 c.1448C>T p.P483L Substitution - Missense 16:50779974-50779974 + CHC2098T COSM4788338 c.669G>A p.M223I Substitution - Missense 16:50751768-50751768 + 8016470 COSM3387470 c.1908C>A p.T636T Substitution - coding silent 16:50784410-50784410 + PTC-54C COSM4129104 c.2606C>A p.T869K Substitution - Missense 16:50794348-50794348 + 2011-2357:2012-292-T COSM21989 c.2713C>T p.Q905* Substitution - Nonsense 16:50796350-50796350 + TCGA-CG-5721-01 COSM4061128 c.915T>C p.A305A Substitution - coding silent 16:50775167-50775167 + TCGA-AK-3427-01 COSM1493674 c.2392G>T p.E798* Substitution - Nonsense 16:50793587-50793587 + TCGA-BS-A0UV-01 COSM971313 c.557T>G p.L186R Substitution - Missense 16:50751656-50751656 + TCGA-18-3409-01 COSM703520 c.949C>T p.P317S Substitution - Missense 16:50776205-50776205 + TCGA-BH-A18G-01 COSM3818070 c.141A>G p.G47G Substitution - coding silent 16:50749839-50749839 + 40M COSM5584956 c.1188C>T p.D396D Substitution - coding silent 16:50779714-50779714 + DLD1 COSM2834412 c.163G>A p.V55M Substitution - Missense 16:50749861-50749861 + TCGA-OL-A66I-01 COSM3818069 c.100C>G p.Q34E Substitution - Missense 16:50749798-50749798 + 1996396 COSM1666906 c.2829T>A p.Y943* Substitution - Nonsense 16:50796466-50796466 + STC252 COSM5054923 c.2675C>T p.A892V Substitution - Missense 16:50794417-50794417 + TCGA-IN-7806-01 COSM4061127 c.775G>A p.E259K Substitution - Missense 16:50751874-50751874 + TCGA-AD-6889-01 COSM293626 c.2159delA p.N722fs*13 Deletion - Frameshift 16:50791608-50791608 + TCGA-CA-6717-01 COSM1378215 c.79G>T p.E27* Substitution - Nonsense 16:50749777-50749777 + TCGA-AP-A059-01 COSM971329 c.2409C>T p.Y803Y Substitution - coding silent 16:50793604-50793604 + HCC142T COSM1609393 c.956T>G p.L319R Substitution - Missense 16:50776212-50776212 + 1032118 COSM23033 c.? p.? Unknown Gp2D COSM4627424 c.2005G>A p.V669M Substitution - Missense 16:50786910-50786910 + PA285 COSM1163123 c.106_107insAA p.L38fs*10 Insertion - Frameshift 16:50749804-50749805 + 1996416 COSM1666910 c.2241+2T>C p.? Unknown 16:50791692-50791692 + TCGA-AA-A010-01 COSM280251 c.478G>A p.G160R Substitution - Missense 16:50750176-50750176 + HCC2998 COSM1679081 c.733G>T p.E245* Substitution - Nonsense 16:50751832-50751832 + ESCC_91 COSM43404 c.2806C>T p.R936* Substitution - Nonsense 16:50796443-50796443 + S02400 COSM5699771 c.2350+2T>C p.? Unknown 16:50792707-50792707 + 8052570 COSM3387468 c.439C>T p.R147C Substitution - Missense 16:50750137-50750137 + 1507216 COSM87250 c.2475C>T p.H825H Substitution - coding silent 16:50794217-50794217 + TCGA-BR-8081-01 COSM4061129 c.1273A>G p.K425E Substitution - Missense 16:50779799-50779799 + 1660235 COSM214343 c.1327C>T p.Q443* Substitution - Nonsense 16:50779853-50779853 + TCGA-B5-A11E-01 COSM971314 c.631G>A p.A211T Substitution - Missense 16:50751730-50751730 + CHC1182T COSM4788750 c.938A>G p.E313G Substitution - Missense 16:50776194-50776194 + 1308406 COSM36934 c.2032G>T p.E678* Substitution - Nonsense 16:50786937-50786937 + TCGA-EE-A2MJ-06 COSM3510107 c.1123T>G p.W375G Substitution - Missense 16:50777926-50777926 + CHC1182T COSM4788750 c.938A>G p.E313G Substitution - Missense 16:50776194-50776194 + DM36 COSM2834411 c.161C>T p.S54F Substitution - Missense 16:50749859-50749859 + TCGA-CA-6717-01 COSM1378224 c.1713A>G p.V571V Substitution - coding silent 16:50782353-50782353 + 472 COSM4437938 c.2099T>C p.L700P Substitution - Missense 16:50787843-50787843 + SH-3776 COSM5020076 c.2412C>T p.D804D Substitution - coding silent 16:50793607-50793607 + TCGA-66-2785-01 COSM703517 c.2044C>A p.P682T Substitution - Missense 16:50787788-50787788 + T368 COSM4675856 c.2801G>A p.C934Y Substitution - Missense 16:50796438-50796438 + 1517_PT COSM5754864 c.1394G>T p.G465V Substitution - Missense 16:50779920-50779920 + BD227T COSM5518021 c.1535G>C p.G512A Substitution - Missense 16:50781262-50781262 + 1352703 COSM43406 c.2107A>T p.R703* Substitution - Nonsense 16:50787851-50787851 + TCGA-F5-6814-01 COSM3421027 c.1509A>G p.G503G Substitution - coding silent 16:50780035-50780035 + TCGA-F4-6570-01 COSM1378217 c.843T>C p.D281D Substitution - coding silent 16:50754354-50754354 + I2L-P19Ta-Tumor-Biopsy COSM5363376 c.557T>C p.L186P Substitution - Missense 16:50751656-50751656 + 2011-2278:2012-1320-T COSM4604929 c.2680C>G p.R894G Substitution - Missense 16:50794422-50794422 + CHC197T COSM3667925 c.1477C>A p.Q493K Substitution - Missense 16:50780003-50780003 + CSCC-32-T COSM4460668 c.1175C>T p.S392F Substitution - Missense 16:50779701-50779701 + TCGA-39-5027-01 COSM703518 c.1726C>T p.P576S Substitution - Missense 16:50782366-50782366 + TCGA-BR-8680-01 COSM4061124 c.407G>T p.R136I Substitution - Missense 16:50750105-50750105 + TCGA-BS-A0UF-01 COSM971324 c.2055C>A p.F685L Substitution - Missense 16:50787799-50787799 + TCGA-A5-A0GP-01 COSM971315 c.863T>G p.F288C Substitution - Missense 16:50754374-50754374 + 1032141 COSM21986 c.2541G>A p.W847* Substitution - Nonsense 16:50794283-50794283 + BCM711T COSM4956043 c.1221G>T p.V407V Substitution - coding silent 16:50779747-50779747 + TCGA-EE-A3AE-06 COSM1679082 c.2311C>T p.P771S Substitution - Missense 16:50792666-50792666 + TCGA-AR-A1AY-01 COSM435363 c.1787G>A p.G596D Substitution - Missense 16:50782427-50782427 + TCGA-AP-A056-01 COSM971318 c.1239G>T p.E413D Substitution - Missense 16:50779765-50779765 + TCGA-EI-6917-01 COSM3421028 c.2050G>A p.E684K Substitution - Missense 16:50787794-50787794 + ICGC_0056 COSM218498 c.1189C>T p.R397C Substitution - Missense 16:50779715-50779715 + T183 COSM307415 c.1715delA p.E573fs*14 Deletion - Frameshift 16:50782355-50782355 + 2217109 COSM4169417 c.? p.S560F Substitution - Missense OSCC-GB_00970111 COSM4889605 c.1565G>A p.R522Q Substitution - Missense 16:50781292-50781292 + TCGA-BR-4292-01 COSM4061132 c.1650G>A p.P550P Substitution - coding silent 16:50781377-50781377 + 8048316 COSM3387469 c.808-4C>A p.? Unknown 16:50754315-50754315 + 2081442 COSM1737935 c.1_2871del2871 p.0? Whole gene deletion I2L-P19Ta-Tumor-Organoid COSM5363376 c.557T>C p.L186P Substitution - Missense 16:50751656-50751656 + 1996396 COSM1666905 c.1681_1682delTT p.L561fs*8 Deletion - Frameshift 16:50781408-50781409 + DM34 COSM5608185 c.2554G>T p.G852C Substitution - Missense 16:50794296-50794296 + CSCC-27-T COSM4507104 c.737C>T p.S246F Substitution - Missense 16:50751836-50751836 + ESCC-F114 COSM5046988 c.2298_2299insA p.I769fs*14 Insertion - Frameshift 16:50792653-50792654 + pfg017T COSM1640503 c.1139-8_1139-7insT p.? Unknown 16:50779657-50779658 + TCGA-BR-8078-01 COSM4061131 c.1474G>A p.G492S Substitution - Missense 16:50780000-50780000 + TCGA-37-4141-01 COSM703514 c.2590G>T p.V864F Substitution - Missense 16:50794332-50794332 + RK200_C01 COSM3741941 c.2470-7A>G p.? Unknown 16:50794205-50794205 + 2081441 COSM1737935 c.1_2871del2871 p.0? Whole gene deletion 1996398 COSM1666907 c.? p.? Unknown ESCC_157 COSM5646273 c.528C>T p.F176F Substitution - coding silent 16:50751627-50751627 + L06 COSM5368759 c.250G>T p.V84F Substitution - Missense 16:50749948-50749948 + 1507217 COSM87252 c.1138+11A>C p.? Unknown 16:50777952-50777952 + 1452109 COSM51505 c.2305_2305delA p.I769fs*7 Deletion - Frameshift 16:50792660-50792660 + RK227_C01 COSM4945569 c.1090G>A p.D364N Substitution - Missense 16:50777893-50777893 + LP6005690-DNA_C02 COSM4411773 c.472G>A p.V158I Substitution - Missense 16:50750170-50750170 + TCGA-AG-A002-01 COSM260349 c.139G>T p.G47* Substitution - Nonsense 16:50749837-50749837 + 1352693 COSM43401 c.1540_1541insA p.T514fs*29 Insertion - Frameshift 16:50781267-50781268 + CSCC-27-T COSM4479172 c.22C>T p.Q8* Substitution - Nonsense 16:50749720-50749720 + 1996415 COSM1666908 c.1932_1932delT p.I644fs*5 Deletion - Frameshift 16:50784434-50784434 + HCC142 COSM1609393 c.956T>G p.L319R Substitution - Missense 16:50776212-50776212 + TCGA-AA-3715-01 COSM293626 c.2159delA p.N722fs*13 Deletion - Frameshift 16:50791608-50791608 + 1996397 COSM1666905 c.1681_1682delTT p.L561fs*8 Deletion - Frameshift 16:50781408-50781409 + 1996384 COSM1666907 c.? p.? Unknown CSCC-62-T COSM4524416 c.126G>T p.P42P Substitution - coding silent 16:50749824-50749824 + J74_T COSM3957632 c.540G>T p.V180V Substitution - coding silent 16:50751639-50751639 + TCGA-BR-8487-01 COSM4061136 c.2535C>T p.P845P Substitution - coding silent 16:50794277-50794277 + TCGA-D1-A16X-01 COSM971328 c.2262T>C p.I754I Substitution - coding silent 16:50792617-50792617 + DM45 COSM5608188 c.1190G>C p.R397P Substitution - Missense 16:50779716-50779716 + 2011-2322:2012-352-T COSM4604689 c.2061T>C p.N687N Substitution - coding silent 16:50787805-50787805 + 1660225 COSM214342 c.1118_1119insA p.N373fs*6 Insertion - Frameshift 16:50777921-50777922 + 587222 COSM1202807 c.1733A>C p.K578T Substitution - Missense 16:50782373-50782373 + TCGA-AP-A0LM-01 COSM971320 c.1671C>T p.R557R Substitution - coding silent 16:50781398-50781398 + TCGA-A5-A0G9-01 COSM971317 c.907A>G p.I303V Substitution - Missense 16:50754418-50754418 + DM98 COSM5608192 c.1550C>T p.T517I Substitution - Missense 16:50781277-50781277 + 1032116 COSM21987 c.1135G>T p.E379* Substitution - Nonsense 16:50777938-50777938 + HCC2998 COSM1679081 c.733G>T p.E245* Substitution - Nonsense 16:50751832-50751832 + SH-9161 COSM5020076 c.2412C>T p.D804D Substitution - coding silent 16:50793607-50793607 + TCGA-AP-A056-01 COSM971330 c.2621C>A p.A874D Substitution - Missense 16:50794363-50794363 + TCGA-D7-6524-01 COSM4061138 c.2744A>G p.Y915C Substitution - Missense 16:50796381-50796381 + TCGA-EB-A5UM-01 COSM3510111 c.1564C>T p.R522W Substitution - Missense 16:50781291-50781291 + S02-14875-TP COSM4990894 c.2523C>T p.P841P Substitution - coding silent 16:50794265-50794265 + PD3190a COSM1658818 c.2211delT p.F738fs*6 Deletion - Frameshift 16:50791660-50791660 + 1352695 COSM43403 c.2467C>T p.Q823* Substitution - Nonsense 16:50793662-50793662 + PT35 COSM5913757 c.725A>G p.E242G Substitution - Missense 16:50751824-50751824 + CHC197T COSM3667925 c.1477C>A p.Q493K Substitution - Missense 16:50780003-50780003 + LUAD-S01331 COSM396433 c.147T>C p.Y49Y Substitution - coding silent 16:50749845-50749845 + OSCC-GB_01210111 COSM5955010 c.1608G>A p.L536L Substitution - coding silent 16:50781335-50781335 + LP6005500-DNA_B01 COSM4409866 c.1178C>T p.T393I Substitution - Missense 16:50779704-50779704 + U2940 COSM5620617 c.1748G>A p.G583D Substitution - Missense 16:50782388-50782388 + BD6T COSM5499261 c.2109-10G>A p.? Unknown 16:50791548-50791548 + CSCC-49-T COSM4539075 c.2640G>A p.K880K Substitution - coding silent 16:50794382-50794382 + MDA-N COSM1679082 c.2311C>T p.P771S Substitution - Missense 16:50792666-50792666 + LUAD-NYU284 COSM372818 c.2236G>A p.A746T Substitution - Missense 16:50791685-50791685 + KYSE30 COSM4260554 c.1327C>A p.Q443K Substitution - Missense 16:50779853-50779853 + 8030245 COSM218498 c.1189C>T p.R397C Substitution - Missense 16:50779715-50779715 + TCGA-FW-A3R5-06 COSM3888623 c.1376C>T p.P459L Substitution - Missense 16:50779902-50779902 + TCGA-22-5480-01 COSM703515 c.2350+2T>A p.? Unknown 16:50792707-50792707 + Pat_41_B COSM2834439 c.1939C>T p.P647S Substitution - Missense 16:50784441-50784441 + T2269 COSM4675855 c.379G>A p.V127M Substitution - Missense 16:50750077-50750077 + CHC2098T COSM4788338 c.669G>A p.M223I Substitution - Missense 16:50751768-50751768 + 12586 COSM5614366 c.802G>T p.D268Y Substitution - Missense 16:50751901-50751901 + KM-H2 COSM49160 c.2109-3_2109-1TAG>AA p.? Unknown 16:50791555-50791557 + TCGA-BS-A0UV-01 COSM971321 c.1844C>A p.S615Y Substitution - Missense 16:50784346-50784346 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.578954;Hs.578966;Hs.578971;Hs.578973 16q12.1 605018

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D618A c.1853A>C 16 50818266 HNSC A C Missense p.K114T c.341A>C 16 50783950 LUAD A G Missense p.I303V c.907A>G 16 50788329 UCEC A G Missense p.N300S c.899A>G 16 50788321 HNSC A G Missense p.Y915C c.2744A>G 16 50830292 STAD A G Synonymous p.T97T c.291A>G 16 50783900 GBM ATGT - IntronicDeletion . c.913+609_913+612delGTAT 16 50788942 CLL A T Missense p.D515V c.1544A>T 16 50815182 HNSC A T Missense p.D681V c.2042A>T 16 50821697 MB A T Missense p.T575S c.1723A>T 16 50816274 HNSC A T Nonsense p.K680* c.2038A>T 16 50820854 HNSC C A IntronicSNV . c.914-8496C>A 16 50800581 CLL C A Missense p.P130T c.388C>A 16 50783997 RCCC C A Nonsense p.S371* c.1112C>A 16 50811826 HNSC CATAT - IntronicDeletion . c.913+820_913+824delCATAT 16 50789155 CLL C G IntronicSNV . c.2686+259C>G 16 50828598 ALL C G Missense p.I739M c.2217C>G 16 50825577 STAD C G Missense p.S737C c.2210C>G 16 50825570 UCEC C G Synonymous p.L402L c.1206C>G 16 50813643 LUAD C T IntronicSNV . c.2686+11C>T 16 50828350 STAD C T Missense p.A502V c.1505C>T 16 50813942 ESCA C T Missense p.L388F c.1162C>T 16 50813599 CM C T Missense p.P229S c.685C>T 16 50785695 CM C T Missense p.P42L c.125C>T 16 50783734 COREAD C T Missense p.P483L c.1448C>T 16 50813885 CM C T Missense p.P576S c.1726C>T 16 50816277 LUSC C T Missense p.P771S c.2311C>T 16 50826577 CM C T Missense p.R397C c.1189C>T 16 50813626 PAAD C T Missense p.T514M c.1541C>T 16 50815179 GBM C T Synonymous p.F518F c.1554C>T 16 50815192 HNSC C T Synonymous p.L38L c.114C>T 16 50783723 CM G A IntronicSNV . c.2686+727G>A 16 50829066 PIA G A Missense p.A935T c.2803G>A 16 50830351 CM G A Missense p.G160R c.478G>A 16 50784087 CM G A Missense p.G593D c.1778G>A 16 50816329 LUAD G A Missense p.G596D c.1787G>A 16 50816338 BRCA G A Missense p.R557H c.1670G>A 16 50815308 UCEC G A Missense p.V727I c.2179G>A 16 50825539 UCEC G A Synonymous p.A289A c.867G>A 16 50788289 GBM G A Synonymous p.P550P c.1650G>A 16 50815288 STAD G C Missense p.Q898H c.2694G>C 16 50830242 LUSC G - Frameshift p.V180Cfs*23 c.538delG 16 50785545 HNSC GG TT Missense p.G360L c.1078_1079delinsTT 16 50811792 LUAD G T Missense p.A305S c.913G>T 16 50788335 LUAD G T Missense p.D268Y c.802G>T 16 50785812 NSCLC G T Missense p.D383Y c.1147G>T 16 50813584 SCLC G T Missense p.G71V c.212G>T 16 50783821 LUSC G T Missense p.V864F c.2590G>T 16 50828243 LUSC G T SpliceDonorSNV . c.2241+1G>T 16 50825602 LUSC T A SpliceDonorSNV . c.2350+2T>A 16 50826618 LUSC TC - IntronicDeletion . c.914-4713_914-4712delCT 16 50804363 CLL T C Missense p.F675S c.2024T>C 16 50820840 CM T - Frameshift p.P771Lfs*5 c.2310delT 16 50826572 STAD T - Frameshift p.Y356Ifs*3 c.1066delT 16 50811777 MM T G Missense p.F288C c.863T>G 16 50788285 UCEC T G Missense p.L358V c.1072T>G 16 50811786 STAD T G Missense p.W375G c.1123T>G 16 50811837 CM T G Synonymous p.R172R c.516T>G 16 50785526 CM - T IntronicInsertion . c.1139-3dupT 16 50813569 STAD TTCT - IntronicDeletion . c.914-4713_914-4710delCTTT 16 50804362 CLL