Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 14 100404174 100404174 + Nonsense_Mutation SNP C C T TCGA-P6-A5OH-01A-11D-A30A-10 TCGA-P6-A5OH-11A-01D-A30A-10 g.chr14:100404174C>T c.2116C>T c.(2116-2118)Caa>Taa p.Q706* BLCA 14 100317292 100317292 + Nonsense_Mutation SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr14:100317292C>G c.170C>G c.(169-171)tCa>tGa p.S57* BLCA 14 100344863 100344863 + Missense_Mutation SNP G G A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr14:100344863G>A c.425G>A c.(424-426)gGg>gAg p.G142E BLCA 14 100363585 100363585 + Missense_Mutation SNP G G C TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr14:100363585G>C c.781G>C c.(781-783)Gag>Cag p.E261Q BLCA 14 100375681 100375681 + Splice_Site SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr14:100375681G>C c.e11-1 BLCA 14 100380515 100380515 + Splice_Site SNP G G C TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr14:100380515G>C c.e14-1 BLCA 14 100380990 100380990 + Missense_Mutation SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr14:100380990T>C c.1708T>C c.(1708-1710)Tgg>Cgg p.W570R BLCA 14 100384169 100384169 + Silent SNP C C T TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr14:100384169C>T c.1803C>T c.(1801-1803)gtC>gtT p.V601V BLCA 14 100402395 100402395 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr14:100402395G>A c.1939G>A c.(1939-1941)Gac>Aac p.D647N BLCA 14 100405533 100405533 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr14:100405533G>T c.e21-1 BLCA 14 100405590 100405590 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr14:100405590G>A c.2248G>A c.(2248-2250)Gag>Aag p.E750K BLCA 14 100405640 100405640 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr14:100405640C>G c.2298C>G c.(2296-2298)ttC>ttG p.F766L BLCA 14 100405642 100405642 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr14:100405642C>T c.2300C>T c.(2299-2301)tCa>tTa p.S767L BRCA 14 100363567 100363567 + Missense_Mutation SNP G G T TCGA-D8-A1JP-01A-11D-A13L-09 TCGA-D8-A1JP-10A-01D-A13O-09 g.chr14:100363567G>T c.763G>T c.(763-765)Gtg>Ttg p.V255L BRCA 14 100364613 100364613 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 g.chr14:100364613G>T c.871G>T c.(871-873)Gtt>Ttt p.V291F BRCA 14 100376585 100376585 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr14:100376585G>A c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K BRCA 14 100384181 100384182 + Missense_Mutation DNP TG TG CT TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 g.chr14:100384181_100384182TG>CT c.1815_1816TG>CT c.(1813-1818)acTGgg>acCTgg p.G606W BRCA 14 100405619 100405619 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr14:100405619C>G c.2277C>G c.(2275-2277)gaC>gaG p.D759E BRCA 14 100406371 100406371 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr14:100406371C>T c.2370C>T c.(2368-2370)gtC>gtT p.V790V CESC 14 100402637 100402637 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr14:100402637C>T c.2061C>T c.(2059-2061)ctC>ctT p.L687L CESC 14 100402642 100402642 + Nonsense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr14:100402642C>G c.2066C>G c.(2065-2067)tCa>tGa p.S689* COAD 14 100317232 100317232 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr14:100317232G>A c.110G>A c.(109-111)cGc>cAc p.R37H COAD 14 100331899 100331899 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr14:100331899G>A c.299G>A c.(298-300)gGc>gAc p.G100D COAD 14 100341315 100341315 + Intron SNP C C A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr14:100341315C>A COAD 14 100344907 100344907 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:100344907C>T c.469C>T c.(469-471)Cgc>Tgc p.R157C COAD 14 100363543 100363543 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr14:100363543G>A c.739G>A c.(739-741)Gtc>Atc p.V247I COAD 14 100363560 100363560 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr14:100363560C>T c.756C>T c.(754-756)tcC>tcT p.S252S COAD 14 100364626 100364626 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:100364626C>T c.884C>T c.(883-885)tCg>tTg p.S295L COAD 14 100364626 100364626 + Nonsense_Mutation SNP C C A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr14:100364626C>A c.884C>A c.(883-885)tCg>tAg p.S295* COAD 14 100364627 100364627 + Silent SNP G G T TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr14:100364627G>T c.885G>T c.(883-885)tcG>tcT p.S295S COAD 14 100375707 100375707 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr14:100375707C>T c.1130C>T c.(1129-1131)gCg>gTg p.A377V COAD 14 100377881 100377881 + Missense_Mutation SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr14:100377881A>G c.1462A>G c.(1462-1464)Agc>Ggc p.S488G COAD 14 100377882 100377882 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr14:100377882G>A c.1463G>A c.(1462-1464)aGc>aAc p.S488N COAD 14 100377882 100377882 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:100377882G>T c.1463G>T c.(1462-1464)aGc>aTc p.S488I COAD 14 100380541 100380541 + Missense_Mutation SNP G G A TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr14:100380541G>A c.1520G>A c.(1519-1521)cGg>cAg p.R507Q COAD 14 100380551 100380551 + Silent SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr14:100380551C>T c.1530C>T c.(1528-1530)gcC>gcT p.A510A COAD 14 100380994 100380994 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:100380994A>G c.1712A>G c.(1711-1713)gAc>gGc p.D571G COAD 14 100387145 100387145 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr14:100387145G>A c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K COAD 14 100404167 100404167 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:100404167C>A c.2109C>A c.(2107-2109)gcC>gcA p.A703A COAD 14 100404234 100404234 + Missense_Mutation SNP G G C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr14:100404234G>C c.2176G>C c.(2176-2178)Gga>Cga p.G726R COAD 14 100405563 100405563 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:100405563G>A c.2221G>A c.(2221-2223)Gac>Aac p.D741N COAD 14 100406345 100406345 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr14:100406345G>A c.2344G>A c.(2344-2346)Ggg>Agg p.G782R COAD 14 100406435 100406436 + Frame_Shift_Ins INS - - G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr14:100406435_100406436insG c.2434_2435insG c.(2434-2436)tggfs p.W812fs COAD 14 100406438 100406438 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr14:100406438C>T c.2437C>T c.(2437-2439)Cgc>Tgc p.R813C COADREAD 14 100317232 100317232 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr14:100317232G>A c.110G>A c.(109-111)cGc>cAc p.R37H COADREAD 14 100331887 100331887 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100331887C>T c.287C>T c.(286-288)aCg>aTg p.T96M COADREAD 14 100331899 100331899 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr14:100331899G>A c.299G>A c.(298-300)gGc>gAc p.G100D COADREAD 14 100341315 100341315 + Intron SNP C C A TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr14:100341315C>A COADREAD 14 100344907 100344907 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:100344907C>T c.469C>T c.(469-471)Cgc>Tgc p.R157C COADREAD 14 100361034 100361034 + Missense_Mutation SNP G G C TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr14:100361034G>C c.616G>C c.(616-618)Gat>Cat p.D206H COADREAD 14 100363543 100363543 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr14:100363543G>A c.739G>A c.(739-741)Gtc>Atc p.V247I COADREAD 14 100363560 100363560 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr14:100363560C>T c.756C>T c.(754-756)tcC>tcT p.S252S COADREAD 14 100363623 100363623 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100363623C>T c.819C>T c.(817-819)gaC>gaT p.D273D COADREAD 14 100364626 100364626 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:100364626C>T c.884C>T c.(883-885)tCg>tTg p.S295L COADREAD 14 100364626 100364626 + Nonsense_Mutation SNP C C A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr14:100364626C>A c.884C>A c.(883-885)tCg>tAg p.S295* COADREAD 14 100364627 100364627 + Silent SNP G G T TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr14:100364627G>T c.885G>T c.(883-885)tcG>tcT p.S295S COADREAD 14 100375707 100375707 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr14:100375707C>T c.1130C>T c.(1129-1131)gCg>gTg p.A377V COADREAD 14 100375814 100375814 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100375814G>A c.1237G>A c.(1237-1239)Gag>Aag p.E413K COADREAD 14 100376617 100376617 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100376617C>A c.1278C>A c.(1276-1278)ttC>ttA p.F426L COADREAD 14 100377881 100377881 + Missense_Mutation SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr14:100377881A>G c.1462A>G c.(1462-1464)Agc>Ggc p.S488G COADREAD 14 100377882 100377882 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr14:100377882G>A c.1463G>A c.(1462-1464)aGc>aAc p.S488N COADREAD 14 100377882 100377882 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:100377882G>T c.1463G>T c.(1462-1464)aGc>aTc p.S488I COADREAD 14 100380541 100380541 + Missense_Mutation SNP G G A TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr14:100380541G>A c.1520G>A c.(1519-1521)cGg>cAg p.R507Q COADREAD 14 100380551 100380551 + Silent SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr14:100380551C>T c.1530C>T c.(1528-1530)gcC>gcT p.A510A COADREAD 14 100380994 100380994 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:100380994A>G c.1712A>G c.(1711-1713)gAc>gGc p.D571G COADREAD 14 100387145 100387145 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr14:100387145G>A c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K COADREAD 14 100404167 100404167 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:100404167C>A c.2109C>A c.(2107-2109)gcC>gcA p.A703A COADREAD 14 100404234 100404234 + Missense_Mutation SNP G G C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr14:100404234G>C c.2176G>C c.(2176-2178)Gga>Cga p.G726R COADREAD 14 100405563 100405563 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr14:100405563G>A c.2221G>A c.(2221-2223)Gac>Aac p.D741N COADREAD 14 100405582 100405582 + Missense_Mutation SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr14:100405582G>A c.2240G>A c.(2239-2241)cGg>cAg p.R747Q COADREAD 14 100406345 100406345 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr14:100406345G>A c.2344G>A c.(2344-2346)Ggg>Agg p.G782R COADREAD 14 100406435 100406436 + Frame_Shift_Ins INS - - G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr14:100406435_100406436insG c.2434_2435insG c.(2434-2436)tggfs p.W812fs COADREAD 14 100406438 100406438 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr14:100406438C>T c.2437C>T c.(2437-2439)Cgc>Tgc p.R813C DLBC 14 100402447 100402447 + Missense_Mutation SNP G G A TCGA-FF-A7CX-01A-12D-A382-10 TCGA-FF-A7CX-10A-01D-A385-10 g.chr14:100402447G>A c.1991G>A c.(1990-1992)cGa>cAa p.R664Q ESCA 14 100361061 100361061 + Nonsense_Mutation SNP G G T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr14:100361061G>T c.643G>T c.(643-645)Gaa>Taa p.E215* ESCA 14 100380522 100380522 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr14:100380522G>T c.1501G>T c.(1501-1503)Gaa>Taa p.E501* ESCA 14 100406345 100406345 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr14:100406345G>T c.2344G>T c.(2344-2346)Ggg>Tgg p.G782W GBM 14 100363508 100363508 + Missense_Mutation SNP G G A TCGA-27-2519-01A-01D-1494-08 TCGA-27-2519-10A-01D-1494-08 g.chr14:100363508G>A c.704G>A c.(703-705)cGt>cAt p.R235H GBM 14 100363606 100363606 + Missense_Mutation SNP G G A TCGA-02-0003-01A-01D-1490-08 TCGA-02-0003-10A-01D-1490-08 g.chr14:100363606G>A c.802G>A c.(802-804)Gct>Act p.A268T GBMLGG 14 100357548 100357548 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:100357548G>A c.531G>A c.(529-531)gaG>gaA p.E177E GBMLGG 14 100363487 100363487 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:100363487G>A c.683G>A c.(682-684)gGg>gAg p.G228E GBMLGG 14 100363508 100363508 + Missense_Mutation SNP G G A TCGA-27-2519-01A-01D-1494-08 TCGA-27-2519-10A-01D-1494-08 g.chr14:100363508G>A c.704G>A c.(703-705)cGt>cAt p.R235H GBMLGG 14 100363606 100363606 + Missense_Mutation SNP G G A TCGA-02-0003-01A-01D-1490-08 TCGA-02-0003-10A-01D-1490-08 g.chr14:100363606G>A c.802G>A c.(802-804)Gct>Act p.A268T GBMLGG 14 100367314 100367314 + Missense_Mutation SNP C C G TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 g.chr14:100367314C>G c.946C>G c.(946-948)Ctc>Gtc p.L316V HNSC 14 100331945 100331945 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr14:100331945C>T c.345C>T c.(343-345)tcC>tcT p.S115S HNSC 14 100331947 100331947 + Missense_Mutation SNP G G T TCGA-CN-A497-01A-11D-A24D-08 TCGA-CN-A497-10A-01D-A24F-08 g.chr14:100331947G>T c.347G>T c.(346-348)gGg>gTg p.G116V HNSC 14 100363537 100363537 + Missense_Mutation SNP G G C TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr14:100363537G>C c.733G>C c.(733-735)Gag>Cag p.E245Q HNSC 14 100363565 100363565 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr14:100363565T>C c.761T>C c.(760-762)gTg>gCg p.V254A HNSC 14 100363569 100363569 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr14:100363569G>A c.765G>A c.(763-765)gtG>gtA p.V255V HNSC 14 100376629 100376629 + Silent SNP T T G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 g.chr14:100376629T>G c.1290T>G c.(1288-1290)ggT>ggG p.G430G HNSC 14 100387174 100387174 + Silent SNP A A T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 g.chr14:100387174A>T c.1869A>T c.(1867-1869)acA>acT p.T623T HNSC 14 100402648 100402648 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr14:100402648C>T c.2072C>T c.(2071-2073)tCc>tTc p.S691F HNSC 14 100405558 100405558 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr14:100405558G>A c.2216G>A c.(2215-2217)gGa>gAa p.G739E HNSC 14 100405590 100405590 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr14:100405590G>C c.2248G>C c.(2248-2250)Gag>Cag p.E750Q KIPAN 14 100375765 100375765 + Nonsense_Mutation SNP C C A TCGA-B0-5812-01A-11D-1669-08 TCGA-B0-5812-11A-01D-1669-08 g.chr14:100375765C>A c.1188C>A c.(1186-1188)taC>taA p.Y396* KIPAN 14 100380607 100380607 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr14:100380607G>A c.1586G>A c.(1585-1587)gGc>gAc p.G529D KIRC 14 100375765 100375765 + Nonsense_Mutation SNP C C A TCGA-B0-5812-01A-11D-1669-08 TCGA-B0-5812-11A-01D-1669-08 g.chr14:100375765C>A c.1188C>A c.(1186-1188)taC>taA p.Y396* KIRC 14 100380607 100380607 + Missense_Mutation SNP G G A TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr14:100380607G>A c.1586G>A c.(1585-1587)gGc>gAc p.G529D LGG 14 100357548 100357548 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:100357548G>A c.531G>A c.(529-531)gaG>gaA p.E177E LGG 14 100363487 100363487 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:100363487G>A c.683G>A c.(682-684)gGg>gAg p.G228E LGG 14 100367314 100367314 + Missense_Mutation SNP C C G TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 g.chr14:100367314C>G c.946C>G c.(946-948)Ctc>Gtc p.L316V LIHC 14 100361092 100361092 + Missense_Mutation SNP G G T TCGA-BW-A5NO-01A-11D-A27I-10 TCGA-BW-A5NO-10A-01D-A27I-10 g.chr14:100361092G>T c.674G>T c.(673-675)tGg>tTg p.W225L LIHC 14 100375708 100375708 + Silent SNP G G T TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr14:100375708G>T c.1131G>T c.(1129-1131)gcG>gcT p.A377A LIHC 14 100376661 100376661 + Missense_Mutation SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr14:100376661T>C c.1322T>C c.(1321-1323)aTc>aCc p.I441T LIHC 14 100380523 100380523 + Missense_Mutation SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr14:100380523A>G c.1502A>G c.(1501-1503)gAa>gGa p.E501G LUAD 14 100331978 100331978 + Silent SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr14:100331978C>T c.378C>T c.(376-378)acC>acT p.T126T LUAD 14 100344889 100344889 + Missense_Mutation SNP T T C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 g.chr14:100344889T>C c.451T>C c.(451-453)Tcc>Ccc p.S151P LUAD 14 100363487 100363487 + Missense_Mutation SNP G G T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr14:100363487G>T c.683G>T c.(682-684)gGg>gTg p.G228V LUAD 14 100363537 100363537 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr14:100363537G>A c.733G>A c.(733-735)Gag>Aag p.E245K LUAD 14 100363537 100363537 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr14:100363537G>C c.733G>C c.(733-735)Gag>Cag p.E245Q LUAD 14 100363631 100363631 + Splice_Site SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr14:100363631G>T c.827G>T c.(826-828)tGc>tTc p.C276F LUAD 14 100364625 100364625 + Missense_Mutation SNP T T C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr14:100364625T>C c.883T>C c.(883-885)Tcg>Ccg p.S295P LUAD 14 100367277 100367277 + Silent SNP A A T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr14:100367277A>T c.909A>T c.(907-909)ccA>ccT p.P303P LUAD 14 100374015 100374015 + Missense_Mutation SNP A A G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 g.chr14:100374015A>G c.1049A>G c.(1048-1050)gAc>gGc p.D350G LUAD 14 100374055 100374055 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr14:100374055A>G c.1089A>G c.(1087-1089)aaA>aaG p.K363K LUAD 14 100376585 100376585 + Nonsense_Mutation SNP G G T TCGA-78-8660-01A-11D-2393-08 TCGA-78-8660-10A-01D-2393-08 g.chr14:100376585G>T c.1246G>T c.(1246-1248)Gaa>Taa p.E416* LUAD 14 100380643 100380643 + Splice_Site SNP T T C TCGA-17-Z021-01A-01W-0746-08 TCGA-17-Z021-11A-01W-0746-08 g.chr14:100380643T>C c.e14+2 LUAD 14 100402407 100402407 + Missense_Mutation SNP T T A TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr14:100402407T>A c.1951T>A c.(1951-1953)Tat>Aat p.Y651N LUAD 14 100402669 100402669 + Missense_Mutation SNP A A G TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr14:100402669A>G c.2093A>G c.(2092-2094)tAc>tGc p.Y698C LUSC 14 100331948 100331948 + Silent SNP G G T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr14:100331948G>T c.348G>T c.(346-348)ggG>ggT p.G116G LUSC 14 100344847 100344847 + Missense_Mutation SNP G G A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr14:100344847G>A c.409G>A c.(409-411)Gaa>Aaa p.E137K LUSC 14 100375748 100375748 + Nonsense_Mutation SNP G G T TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr14:100375748G>T c.1171G>T c.(1171-1173)Gga>Tga p.G391* LUSC 14 100405640 100405640 + Missense_Mutation SNP C C G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr14:100405640C>G c.2298C>G c.(2296-2298)ttC>ttG p.F766L OV 14 100341316 100341316 + Intron SNP G G A TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 g.chr14:100341316G>A OV 14 100402380 100402380 + Missense_Mutation SNP G G A TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 g.chr14:100402380G>A c.1924G>A c.(1924-1926)Gcc>Acc p.A642T PAAD 14 100367375 100367375 + Splice_Site SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:100367375C>A c.1007C>A c.(1006-1008)tCt>tAt p.S336Y PAAD 14 100374050 100374050 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr14:100374050G>C c.1084G>C c.(1084-1086)Gaa>Caa p.E362Q PAAD 14 100380996 100380996 + Missense_Mutation SNP G G A TCGA-FB-AAQ3-01A-11D-A40W-08 TCGA-FB-AAQ3-11A-11D-A40W-08 g.chr14:100380996G>A c.1714G>A c.(1714-1716)Gct>Act p.A572T PAAD 14 100404186 100404186 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:100404186G>A c.2128G>A c.(2128-2130)Gtg>Atg p.V710M PAAD 14 100405553 100405553 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 g.chr14:100405553G>A c.2211G>A c.(2209-2211)tcG>tcA p.S737S PAAD 14 100405582 100405582 + Missense_Mutation SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chr14:100405582G>A c.2240G>A c.(2239-2241)cGg>cAg p.R747Q PAAD 14 100405613 100405613 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:100405613C>T c.2271C>T c.(2269-2271)ggC>ggT p.G757G PRAD 14 100405575 100405575 + Missense_Mutation SNP G G A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 g.chr14:100405575G>A c.2233G>A c.(2233-2235)Gtc>Atc p.V745I READ 14 100331887 100331887 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100331887C>T c.287C>T c.(286-288)aCg>aTg p.T96M READ 14 100361034 100361034 + Missense_Mutation SNP G G C TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr14:100361034G>C c.616G>C c.(616-618)Gat>Cat p.D206H READ 14 100363623 100363623 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100363623C>T c.819C>T c.(817-819)gaC>gaT p.D273D READ 14 100375814 100375814 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100375814G>A c.1237G>A c.(1237-1239)Gag>Aag p.E413K READ 14 100376617 100376617 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100376617C>A c.1278C>A c.(1276-1278)ttC>ttA p.F426L READ 14 100405582 100405582 + Missense_Mutation SNP G G A TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr14:100405582G>A c.2240G>A c.(2239-2241)cGg>cAg p.R747Q SARC 14 100402591 100402591 + Missense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 g.chr14:100402591C>G c.2015C>G c.(2014-2016)tCc>tGc p.S672C SARC 14 100402664 100402664 + Silent SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 g.chr14:100402664C>A c.2088C>A c.(2086-2088)atC>atA p.I696I SKCM 14 100317273 100317273 + Missense_Mutation SNP G G A TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr14:100317273G>A c.151G>A c.(151-153)Gac>Aac p.D51N SKCM 14 100331891 100331891 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr14:100331891C>T c.291C>T c.(289-291)gtC>gtT p.V97V SKCM 14 100331934 100331935 + Missense_Mutation DNP CC CC TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr14:100331934_100331935CC>TT c.334_335CC>TT c.(334-336)CCa>TTa p.P112L SKCM 14 100341315 100341315 + Intron SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:100341315C>T SKCM 14 100344868 100344868 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr14:100344868C>T c.430C>T c.(430-432)Cga>Tga p.R144* SKCM 14 100344907 100344907 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr14:100344907C>T c.469C>T c.(469-471)Cgc>Tgc p.R157C SKCM 14 100363551 100363551 + Silent SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr14:100363551C>T c.747C>T c.(745-747)ttC>ttT p.F249F SKCM 14 100363618 100363618 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:100363618G>A c.814G>A c.(814-816)Gat>Aat p.D272N SKCM 14 100364580 100364580 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr14:100364580C>T c.838C>T c.(838-840)Cat>Tat p.H280Y SKCM 14 100374010 100374010 + Silent SNP C C T TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr14:100374010C>T c.1044C>T c.(1042-1044)tcC>tcT p.S348S SKCM 14 100374016 100374016 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr14:100374016C>T c.1050C>T c.(1048-1050)gaC>gaT p.D350D SKCM 14 100376662 100376662 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:100376662C>T c.1323C>T c.(1321-1323)atC>atT p.I441I SKCM 14 100377902 100377902 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr14:100377902C>T c.1483C>T c.(1483-1485)Cgt>Tgt p.R495C SKCM 14 100380631 100380631 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:100380631C>T c.1610C>T c.(1609-1611)cCc>cTc p.P537L SKCM 14 100380924 100380924 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:100380924G>A c.1642G>A c.(1642-1644)Gga>Aga p.G548R SKCM 14 100387194 100387194 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr14:100387194C>T c.1889C>T c.(1888-1890)tCt>tTt p.S630F SKCM 14 100404244 100404244 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:100404244T>G c.2186T>G c.(2185-2187)gTt>gGt p.V729G SKCM 14 100405642 100405642 + Missense_Mutation SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr14:100405642C>T c.2300C>T c.(2299-2301)tCa>tTa p.S767L SKCM 14 100406351 100406351 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:100406351A>G c.2350A>G c.(2350-2352)Agc>Ggc p.S784G SKCM 14 100406371 100406371 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr14:100406371C>T c.2370C>T c.(2368-2370)gtC>gtT p.V790V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 14 100375681 100375681 single base substitution G C exon_variant BLCA-US 14 100375681 100375681 single base substitution G C splice_acceptor_variant BLCA-US 14 100380990 100380990 single base substitution T C downstream_gene_variant BLCA-US 14 100380990 100380990 single base substitution T C exon_variant BLCA-US 14 100380990 100380990 single base substitution T C missense_variant W558R 1672T>C BLCA-US 14 100380990 100380990 single base substitution T C missense_variant W570R 1708T>C BLCA-US 14 100380990 100380990 single base substitution T C missense_variant W589R 1765T>C BLCA-US 14 100402395 100402395 single base substitution G A 3_prime_UTR_variant BLCA-US 14 100402395 100402395 single base substitution G A missense_variant D635N 1903G>A BLCA-US 14 100402395 100402395 single base substitution G A missense_variant D647N 1939G>A BLCA-US 14 100402395 100402395 single base substitution G A missense_variant D666N 1996G>A BLCA-US 14 100402395 100402395 single base substitution G A upstream_gene_variant BLCA-US 14 100405533 100405533 single base substitution G T splice_acceptor_variant BLCA-US 14 100405640 100405640 single base substitution C G downstream_gene_variant BLCA-US 14 100405640 100405640 single base substitution C G exon_variant BLCA-US 14 100405640 100405640 single base substitution C G missense_variant F754L 2262C>G BLCA-US 14 100405640 100405640 single base substitution C G missense_variant F766L 2298C>G BLCA-US 14 100405640 100405640 single base substitution C G missense_variant F785L 2355C>G BOCA-FR 14 100230772 100230772 single base substitution G A intron_variant BRCA-EU 14 100199708 100199708 single base substitution C T upstream_gene_variant BRCA-EU 14 100200391 100200391 single base substitution G A upstream_gene_variant BRCA-EU 14 100200872 100200872 single base substitution T C upstream_gene_variant BRCA-EU 14 100201187 100201187 single base substitution C G upstream_gene_variant BRCA-EU 14 100201452 100201452 single base substitution G T upstream_gene_variant BRCA-EU 14 100202312 100202312 single base substitution C G upstream_gene_variant BRCA-EU 14 100203237 100203237 single base substitution G T upstream_gene_variant BRCA-EU 14 100203751 100203751 single base substitution C T upstream_gene_variant BRCA-EU 14 100203933 100203933 single base substitution G T upstream_gene_variant BRCA-EU 14 100206696 100206696 single base substitution G A intron_variant BRCA-EU 14 100207928 100207928 single base substitution T C intron_variant BRCA-EU 14 100208052 100208052 single base substitution C T intron_variant BRCA-EU 14 100208368 100208368 single base substitution G A intron_variant BRCA-EU 14 100208925 100208925 single base substitution C A intron_variant BRCA-EU 14 100209764 100209764 single base substitution T G intron_variant BRCA-EU 14 100211233 100211233 single base substitution C T intron_variant BRCA-EU 14 100214995 100214995 deletion of <=200bp A - intron_variant BRCA-EU 14 100215631 100215631 single base substitution C G intron_variant BRCA-EU 14 100218114 100218114 single base substitution G C intron_variant BRCA-EU 14 100218241 100218241 single base substitution G C intron_variant BRCA-EU 14 100218443 100218443 single base substitution G C intron_variant BRCA-EU 14 100219233 100219233 single base substitution G A intron_variant BRCA-EU 14 100220552 100220552 single base substitution G C intron_variant BRCA-EU 14 100220873 100220873 single base substitution G A intron_variant BRCA-EU 14 100220959 100220959 single base substitution C G intron_variant BRCA-EU 14 100222851 100222851 single base substitution C T intron_variant BRCA-EU 14 100223054 100223054 single base substitution C T intron_variant BRCA-EU 14 100223301 100223301 single base substitution C T intron_variant BRCA-EU 14 100226219 100226219 single base substitution G C intron_variant BRCA-EU 14 100226274 100226274 single base substitution T A intron_variant BRCA-EU 14 100227244 100227244 single base substitution C T intron_variant BRCA-EU 14 100227834 100227834 single base substitution G A intron_variant BRCA-EU 14 100228145 100228145 single base substitution C A intron_variant BRCA-EU 14 100228882 100228882 single base substitution C T intron_variant BRCA-EU 14 100229813 100229813 single base substitution G T intron_variant BRCA-EU 14 100230375 100230375 single base substitution G T intron_variant BRCA-EU 14 100230564 100230564 deletion of <=200bp C - intron_variant BRCA-EU 14 100230577 100230577 single base substitution G A intron_variant BRCA-EU 14 100230584 100230584 single base substitution C T intron_variant BRCA-EU 14 100231002 100231002 single base substitution G T intron_variant BRCA-EU 14 100231104 100231104 single base substitution G C intron_variant BRCA-EU 14 100231409 100231409 single base substitution G C intron_variant BRCA-EU 14 100231862 100231862 single base substitution G T intron_variant BRCA-EU 14 100231965 100231965 single base substitution G C intron_variant BRCA-EU 14 100232717 100232717 single base substitution G C intron_variant BRCA-EU 14 100232996 100232996 single base substitution T G intron_variant BRCA-EU 14 100234576 100234576 single base substitution C T intron_variant BRCA-EU 14 100234576 100234576 single base substitution C T upstream_gene_variant BRCA-EU 14 100235005 100235005 single base substitution G C intron_variant BRCA-EU 14 100235005 100235005 single base substitution G C upstream_gene_variant BRCA-EU 14 100235179 100235179 single base substitution T A intron_variant BRCA-EU 14 100235179 100235179 single base substitution T A upstream_gene_variant BRCA-EU 14 100235335 100235335 single base substitution G A intron_variant BRCA-EU 14 100235335 100235335 single base substitution G A upstream_gene_variant BRCA-EU 14 100236534 100236534 single base substitution G A intron_variant BRCA-EU 14 100236534 100236534 single base substitution G A upstream_gene_variant BRCA-EU 14 100236770 100236770 single base substitution G C intron_variant BRCA-EU 14 100236770 100236770 single base substitution G C upstream_gene_variant BRCA-EU 14 100236853 100236853 single base substitution C G intron_variant BRCA-EU 14 100236853 100236853 single base substitution C G upstream_gene_variant BRCA-EU 14 100237157 100237157 single base substitution T C intron_variant BRCA-EU 14 100237157 100237157 single base substitution T C upstream_gene_variant BRCA-EU 14 100237439 100237439 single base substitution G C intron_variant BRCA-EU 14 100237439 100237439 single base substitution G C upstream_gene_variant BRCA-EU 14 100237491 100237491 single base substitution G C intron_variant BRCA-EU 14 100237491 100237491 single base substitution G C upstream_gene_variant BRCA-EU 14 100237538 100237538 single base substitution G A intron_variant BRCA-EU 14 100237538 100237538 single base substitution G A upstream_gene_variant BRCA-EU 14 100237567 100237567 single base substitution G C intron_variant BRCA-EU 14 100237567 100237567 single base substitution G C upstream_gene_variant BRCA-EU 14 100238057 100238057 single base substitution G A intron_variant BRCA-EU 14 100238057 100238057 single base substitution G A upstream_gene_variant BRCA-EU 14 100238707 100238707 single base substitution C G intron_variant BRCA-EU 14 100238707 100238707 single base substitution C G upstream_gene_variant BRCA-EU 14 100239367 100239367 single base substitution G A 5_prime_UTR_variant BRCA-EU 14 100239367 100239367 single base substitution G A intron_variant BRCA-EU 14 100239367 100239367 single base substitution G A upstream_gene_variant BRCA-EU 14 100241348 100241348 deletion of <=200bp A - intron_variant BRCA-EU 14 100241917 100241917 single base substitution G A intron_variant BRCA-EU 14 100242074 100242074 single base substitution T A intron_variant BRCA-EU 14 100242178 100242178 single base substitution A T intron_variant BRCA-EU 14 100243172 100243172 single base substitution A C intron_variant BRCA-EU 14 100243818 100243818 single base substitution A G intron_variant BRCA-EU 14 100244396 100244396 single base substitution A G intron_variant BRCA-EU 14 100246223 100246223 single base substitution C T intron_variant BRCA-EU 14 100247059 100247059 single base substitution C G intron_variant BRCA-EU 14 100247479 100247479 single base substitution C T intron_variant BRCA-EU 14 100249046 100249046 single base substitution G A intron_variant BRCA-EU 14 100249057 100249057 insertion of <=200bp - C intron_variant BRCA-EU 14 100250397 100250397 single base substitution A G intron_variant BRCA-EU 14 100251947 100251947 single base substitution C T intron_variant BRCA-EU 14 100252628 100252628 single base substitution G C intron_variant BRCA-EU 14 100252727 100252727 single base substitution C A intron_variant BRCA-EU 14 100252764 100252764 single base substitution A C intron_variant BRCA-EU 14 100252930 100252930 single base substitution C T intron_variant BRCA-EU 14 100255108 100255108 single base substitution C T intron_variant BRCA-EU 14 100255108 100255108 single base substitution C T upstream_gene_variant BRCA-EU 14 100255164 100255164 single base substitution C G intron_variant BRCA-EU 14 100255164 100255164 single base substitution C G upstream_gene_variant BRCA-EU 14 100256301 100256301 single base substitution C T intron_variant BRCA-EU 14 100256301 100256301 single base substitution C T upstream_gene_variant BRCA-EU 14 100257211 100257211 single base substitution T C intron_variant BRCA-EU 14 100257211 100257211 single base substitution T C upstream_gene_variant BRCA-EU 14 100260332 100260332 single base substitution G A intron_variant BRCA-EU 14 100260622 100260622 single base substitution G C intron_variant BRCA-EU 14 100260623 100260623 single base substitution A G intron_variant BRCA-EU 14 100260751 100260755 deletion of <=200bp TGTGT - intron_variant BRCA-EU 14 100262718 100262718 single base substitution A C intron_variant BRCA-EU 14 100263115 100263115 single base substitution C G intron_variant BRCA-EU 14 100265912 100265912 single base substitution C T intron_variant BRCA-EU 14 100266055 100266055 single base substitution T A intron_variant BRCA-EU 14 100266131 100266131 single base substitution T C intron_variant BRCA-EU 14 100267099 100267099 single base substitution G A intron_variant BRCA-EU 14 100268433 100268433 single base substitution C T intron_variant BRCA-EU 14 100271211 100271211 single base substitution G T intron_variant BRCA-EU 14 100271211 100271211 single base substitution G T upstream_gene_variant BRCA-EU 14 100271776 100271776 single base substitution C G intron_variant BRCA-EU 14 100271776 100271776 single base substitution C G upstream_gene_variant BRCA-EU 14 100271831 100271831 single base substitution G C intron_variant BRCA-EU 14 100271831 100271831 single base substitution G C upstream_gene_variant BRCA-EU 14 100272847 100272847 single base substitution T G intron_variant BRCA-EU 14 100272847 100272847 single base substitution T G upstream_gene_variant BRCA-EU 14 100274608 100274608 single base substitution C T intron_variant BRCA-EU 14 100274608 100274608 single base substitution C T upstream_gene_variant BRCA-EU 14 100277714 100277714 single base substitution A T intron_variant BRCA-EU 14 100278222 100278222 single base substitution T C intron_variant BRCA-EU 14 100278583 100278583 single base substitution G A intron_variant BRCA-EU 14 100278676 100278676 single base substitution G A intron_variant BRCA-EU 14 100279240 100279240 single base substitution C T intron_variant BRCA-EU 14 100280318 100280318 single base substitution C T intron_variant BRCA-EU 14 100282043 100282043 single base substitution A G intron_variant BRCA-EU 14 100282467 100282467 single base substitution G T intron_variant BRCA-EU 14 100282512 100282512 deletion of <=200bp T - intron_variant BRCA-EU 14 100283608 100283608 single base substitution G T intron_variant BRCA-EU 14 100283691 100283691 single base substitution G A intron_variant BRCA-EU 14 100285014 100285014 single base substitution T G intron_variant BRCA-EU 14 100285080 100285080 single base substitution G A intron_variant BRCA-EU 14 100285656 100285656 single base substitution T C intron_variant BRCA-EU 14 100286029 100286029 single base substitution G T intron_variant BRCA-EU 14 100287585 100287585 single base substitution C T intron_variant BRCA-EU 14 100288040 100288040 single base substitution G A intron_variant BRCA-EU 14 100288981 100288981 single base substitution G T intron_variant BRCA-EU 14 100290826 100290826 single base substitution G A intron_variant BRCA-EU 14 100291521 100291521 single base substitution C T intron_variant BRCA-EU 14 100292566 100292566 single base substitution C A intron_variant BRCA-EU 14 100294042 100294042 single base substitution A T intron_variant BRCA-EU 14 100298308 100298308 single base substitution G C intron_variant BRCA-EU 14 100300462 100300462 single base substitution G A intron_variant BRCA-EU 14 100300462 100300462 single base substitution G A upstream_gene_variant BRCA-EU 14 100300863 100300863 single base substitution A T intron_variant BRCA-EU 14 100300863 100300863 single base substitution A T upstream_gene_variant BRCA-EU 14 100301009 100301009 single base substitution G A intron_variant BRCA-EU 14 100301009 100301009 single base substitution G A upstream_gene_variant BRCA-EU 14 100302755 100302755 single base substitution C G intron_variant BRCA-EU 14 100302755 100302755 single base substitution C G upstream_gene_variant BRCA-EU 14 100303205 100303205 single base substitution G A intron_variant BRCA-EU 14 100303205 100303205 single base substitution G A upstream_gene_variant BRCA-EU 14 100303571 100303571 single base substitution A G intron_variant BRCA-EU 14 100303571 100303571 single base substitution A G upstream_gene_variant BRCA-EU 14 100303802 100303802 single base substitution G C intron_variant BRCA-EU 14 100303802 100303802 single base substitution G C upstream_gene_variant BRCA-EU 14 100306073 100306073 single base substitution C G intron_variant BRCA-EU 14 100308744 100308744 single base substitution G C intron_variant BRCA-EU 14 100309943 100309943 single base substitution A G intron_variant BRCA-EU 14 100310477 100310477 single base substitution C G intron_variant BRCA-EU 14 100310593 100310593 single base substitution G A intron_variant BRCA-EU 14 100311184 100311184 single base substitution G T intron_variant BRCA-EU 14 100311848 100311848 single base substitution G A intron_variant BRCA-EU 14 100311972 100311972 deletion of <=200bp T - intron_variant BRCA-EU 14 100312117 100312117 single base substitution G A intron_variant BRCA-EU 14 100312146 100312146 single base substitution G A intron_variant BRCA-EU 14 100312318 100312318 single base substitution C T intron_variant BRCA-EU 14 100312318 100312318 single base substitution C T upstream_gene_variant BRCA-EU 14 100312678 100312678 single base substitution G C intron_variant BRCA-EU 14 100312678 100312678 single base substitution G C upstream_gene_variant BRCA-EU 14 100312707 100312707 single base substitution C T intron_variant BRCA-EU 14 100312707 100312707 single base substitution C T upstream_gene_variant BRCA-EU 14 100312913 100312913 single base substitution C G intron_variant BRCA-EU 14 100312913 100312913 single base substitution C G upstream_gene_variant BRCA-EU 14 100313486 100313486 single base substitution T G intron_variant BRCA-EU 14 100313486 100313486 single base substitution T G upstream_gene_variant BRCA-EU 14 100316433 100316433 single base substitution A T intron_variant BRCA-EU 14 100316433 100316433 single base substitution A T upstream_gene_variant BRCA-EU 14 100318039 100318039 deletion of <=200bp T - intron_variant BRCA-EU 14 100319064 100319064 deletion of <=200bp T - intron_variant BRCA-EU 14 100322256 100322256 single base substitution G A intron_variant BRCA-EU 14 100324793 100324793 single base substitution A G intron_variant BRCA-EU 14 100326400 100326400 single base substitution G A intron_variant BRCA-EU 14 100326980 100326980 single base substitution G A intron_variant BRCA-EU 14 100326980 100326980 single base substitution G A upstream_gene_variant BRCA-EU 14 100329406 100329406 single base substitution C A intron_variant BRCA-EU 14 100329406 100329406 single base substitution C A upstream_gene_variant BRCA-EU 14 100330248 100330248 single base substitution C G intron_variant BRCA-EU 14 100330248 100330248 single base substitution C G upstream_gene_variant BRCA-EU 14 100330249 100330249 single base substitution T C intron_variant BRCA-EU 14 100330249 100330249 single base substitution T C upstream_gene_variant BRCA-EU 14 100330389 100330389 single base substitution G A intron_variant BRCA-EU 14 100330389 100330389 single base substitution G A upstream_gene_variant BRCA-EU 14 100330888 100330888 single base substitution C T intron_variant BRCA-EU 14 100330888 100330888 single base substitution C T upstream_gene_variant BRCA-EU 14 100334760 100334760 single base substitution C T downstream_gene_variant BRCA-EU 14 100334760 100334760 single base substitution C T intron_variant BRCA-EU 14 100334901 100334901 single base substitution A G downstream_gene_variant BRCA-EU 14 100334901 100334901 single base substitution A G intron_variant BRCA-EU 14 100335024 100335024 single base substitution A T downstream_gene_variant BRCA-EU 14 100335024 100335024 single base substitution A T intron_variant BRCA-EU 14 100335446 100335446 single base substitution C A downstream_gene_variant BRCA-EU 14 100335446 100335446 single base substitution C A intron_variant BRCA-EU 14 100335470 100335470 single base substitution T C downstream_gene_variant BRCA-EU 14 100335470 100335470 single base substitution T C intron_variant BRCA-EU 14 100335506 100335506 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 100335506 100335506 deletion of <=200bp T - intron_variant BRCA-EU 14 100336152 100336152 single base substitution G A downstream_gene_variant BRCA-EU 14 100336152 100336152 single base substitution G A intron_variant BRCA-EU 14 100337499 100337499 single base substitution T C intron_variant BRCA-EU 14 100338815 100338815 single base substitution G A intron_variant BRCA-EU 14 100339788 100339788 single base substitution A C intron_variant BRCA-EU 14 100339990 100339990 single base substitution G C intron_variant BRCA-EU 14 100340297 100340297 single base substitution G C intron_variant BRCA-EU 14 100340648 100340648 single base substitution G A intron_variant BRCA-EU 14 100341626 100341626 single base substitution A T intron_variant BRCA-EU 14 100342906 100342906 single base substitution T A intron_variant BRCA-EU 14 100344110 100344110 single base substitution T A intron_variant BRCA-EU 14 100344647 100344647 single base substitution G C intron_variant BRCA-EU 14 100344911 100344911 single base substitution C G downstream_gene_variant BRCA-EU 14 100344911 100344911 single base substitution C G exon_variant BRCA-EU 14 100344911 100344911 single base substitution C G missense_variant T127R 380C>G BRCA-EU 14 100344911 100344911 single base substitution C G missense_variant T145R 434C>G BRCA-EU 14 100344911 100344911 single base substitution C G missense_variant T146R 437C>G BRCA-EU 14 100344911 100344911 single base substitution C G missense_variant T158R 473C>G BRCA-EU 14 100344911 100344911 single base substitution C G missense_variant T177R 530C>G BRCA-EU 14 100344911 100344911 single base substitution C G missense_variant T43R 128C>G BRCA-EU 14 100346260 100346260 single base substitution T C downstream_gene_variant BRCA-EU 14 100346260 100346260 single base substitution T C intron_variant BRCA-EU 14 100347725 100347725 single base substitution C T downstream_gene_variant BRCA-EU 14 100347725 100347725 single base substitution C T intron_variant BRCA-EU 14 100348215 100348215 single base substitution C T downstream_gene_variant BRCA-EU 14 100348215 100348215 single base substitution C T intron_variant BRCA-EU 14 100348347 100348347 single base substitution G C downstream_gene_variant BRCA-EU 14 100348347 100348347 single base substitution G C intron_variant BRCA-EU 14 100349292 100349292 single base substitution C T downstream_gene_variant BRCA-EU 14 100349292 100349292 single base substitution C T intron_variant BRCA-EU 14 100350979 100350979 single base substitution C T downstream_gene_variant BRCA-EU 14 100350979 100350979 single base substitution C T intron_variant BRCA-EU 14 100352871 100352871 single base substitution A G downstream_gene_variant BRCA-EU 14 100352871 100352871 single base substitution A G intron_variant BRCA-EU 14 100352879 100352879 single base substitution G A downstream_gene_variant BRCA-EU 14 100352879 100352879 single base substitution G A intron_variant BRCA-EU 14 100353238 100353238 single base substitution G A downstream_gene_variant BRCA-EU 14 100353238 100353238 single base substitution G A intron_variant BRCA-EU 14 100353709 100353709 single base substitution C T downstream_gene_variant BRCA-EU 14 100353709 100353709 single base substitution C T intron_variant BRCA-EU 14 100353808 100353808 single base substitution G A downstream_gene_variant BRCA-EU 14 100353808 100353808 single base substitution G A intron_variant BRCA-EU 14 100354002 100354002 single base substitution G T downstream_gene_variant BRCA-EU 14 100354002 100354002 single base substitution G T intron_variant BRCA-EU 14 100354268 100354268 single base substitution T G downstream_gene_variant BRCA-EU 14 100354268 100354268 single base substitution T G intron_variant BRCA-EU 14 100354282 100354282 single base substitution G T downstream_gene_variant BRCA-EU 14 100354282 100354282 single base substitution G T intron_variant BRCA-EU 14 100355027 100355027 single base substitution A T downstream_gene_variant BRCA-EU 14 100355027 100355027 single base substitution A T intron_variant BRCA-EU 14 100355397 100355397 single base substitution G A downstream_gene_variant BRCA-EU 14 100355397 100355397 single base substitution G A intron_variant BRCA-EU 14 100355716 100355716 single base substitution C G downstream_gene_variant BRCA-EU 14 100355716 100355716 single base substitution C G intron_variant BRCA-EU 14 100355800 100355800 single base substitution T C downstream_gene_variant BRCA-EU 14 100355800 100355800 single base substitution T C intron_variant BRCA-EU 14 100355800 100355800 single base substitution T C upstream_gene_variant BRCA-EU 14 100357661 100357661 single base substitution G A intron_variant BRCA-EU 14 100357661 100357661 single base substitution G A upstream_gene_variant BRCA-EU 14 100358720 100358720 single base substitution C G intron_variant BRCA-EU 14 100358720 100358720 single base substitution C G upstream_gene_variant BRCA-EU 14 100360547 100360547 single base substitution G A intron_variant BRCA-EU 14 100360547 100360547 single base substitution G A upstream_gene_variant BRCA-EU 14 100360956 100360956 single base substitution C G exon_variant BRCA-EU 14 100360956 100360956 single base substitution C G intron_variant BRCA-EU 14 100360956 100360956 single base substitution C G upstream_gene_variant BRCA-EU 14 100361553 100361553 single base substitution G C intron_variant BRCA-EU 14 100361553 100361553 single base substitution G C upstream_gene_variant BRCA-EU 14 100362136 100362136 single base substitution C T intron_variant BRCA-EU 14 100362136 100362136 single base substitution C T upstream_gene_variant BRCA-EU 14 100362858 100362858 single base substitution C T intron_variant BRCA-EU 14 100362858 100362858 single base substitution C T upstream_gene_variant BRCA-EU 14 100362923 100362923 deletion of <=200bp T - intron_variant BRCA-EU 14 100362923 100362923 deletion of <=200bp T - upstream_gene_variant BRCA-EU 14 100362958 100362958 deletion of <=200bp C - intron_variant BRCA-EU 14 100362958 100362958 deletion of <=200bp C - upstream_gene_variant BRCA-EU 14 100363020 100363022 deletion of <=200bp AAA - intron_variant BRCA-EU 14 100363020 100363022 deletion of <=200bp AAA - upstream_gene_variant BRCA-EU 14 100363212 100363212 single base substitution T A intron_variant BRCA-EU 14 100363212 100363212 single base substitution T A upstream_gene_variant BRCA-EU 14 100363555 100363555 single base substitution G A exon_variant BRCA-EU 14 100363555 100363555 single base substitution G A missense_variant A220T 658G>A BRCA-EU 14 100363555 100363555 single base substitution G A missense_variant A238T 712G>A BRCA-EU 14 100363555 100363555 single base substitution G A missense_variant A239T 715G>A BRCA-EU 14 100363555 100363555 single base substitution G A missense_variant A251T 751G>A BRCA-EU 14 100363555 100363555 single base substitution G A missense_variant A270T 808G>A BRCA-EU 14 100363555 100363555 single base substitution G A upstream_gene_variant BRCA-EU 14 100364648 100364648 single base substitution C T intron_variant BRCA-EU 14 100364648 100364648 single base substitution C T upstream_gene_variant BRCA-EU 14 100365887 100365887 single base substitution C G intron_variant BRCA-EU 14 100366967 100366967 single base substitution A C intron_variant BRCA-EU 14 100369920 100369920 single base substitution T C downstream_gene_variant BRCA-EU 14 100369920 100369920 single base substitution T C intron_variant BRCA-EU 14 100369920 100369920 single base substitution T C upstream_gene_variant BRCA-EU 14 100371126 100371126 single base substitution G T downstream_gene_variant BRCA-EU 14 100371126 100371126 single base substitution G T intron_variant BRCA-EU 14 100371126 100371126 single base substitution G T upstream_gene_variant BRCA-EU 14 100375919 100375919 single base substitution C T downstream_gene_variant BRCA-EU 14 100375919 100375919 single base substitution C T intron_variant BRCA-EU 14 100375919 100375919 single base substitution C T upstream_gene_variant BRCA-EU 14 100377284 100377284 single base substitution G C downstream_gene_variant BRCA-EU 14 100377284 100377284 single base substitution G C intron_variant BRCA-EU 14 100377284 100377284 single base substitution G C upstream_gene_variant BRCA-EU 14 100377764 100377764 single base substitution A G downstream_gene_variant BRCA-EU 14 100377764 100377764 single base substitution A G exon_variant BRCA-EU 14 100377764 100377764 single base substitution A G missense_variant N141D 421A>G BRCA-EU 14 100377764 100377764 single base substitution A G missense_variant N437D 1309A>G BRCA-EU 14 100377764 100377764 single base substitution A G missense_variant N449D 1345A>G BRCA-EU 14 100377764 100377764 single base substitution A G missense_variant N468D 1402A>G BRCA-EU 14 100377764 100377764 single base substitution A G upstream_gene_variant BRCA-EU 14 100377880 100377880 single base substitution G C downstream_gene_variant BRCA-EU 14 100377880 100377880 single base substitution G C exon_variant BRCA-EU 14 100377880 100377880 single base substitution G C missense_variant W179C 537G>C BRCA-EU 14 100377880 100377880 single base substitution G C missense_variant W475C 1425G>C BRCA-EU 14 100377880 100377880 single base substitution G C missense_variant W487C 1461G>C BRCA-EU 14 100377880 100377880 single base substitution G C missense_variant W506C 1518G>C BRCA-EU 14 100377880 100377880 single base substitution G C upstream_gene_variant BRCA-EU 14 100378496 100378496 single base substitution G C downstream_gene_variant BRCA-EU 14 100378496 100378496 single base substitution G C intron_variant BRCA-EU 14 100378496 100378496 single base substitution G C upstream_gene_variant BRCA-EU 14 100379414 100379414 single base substitution G T downstream_gene_variant BRCA-EU 14 100379414 100379414 single base substitution G T intron_variant BRCA-EU 14 100379414 100379414 single base substitution G T upstream_gene_variant BRCA-EU 14 100379678 100379678 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 100379678 100379678 deletion of <=200bp T - intron_variant BRCA-EU 14 100379678 100379678 deletion of <=200bp T - upstream_gene_variant BRCA-EU 14 100381188 100381188 single base substitution A C downstream_gene_variant BRCA-EU 14 100381188 100381188 single base substitution A C exon_variant BRCA-EU 14 100381188 100381188 single base substitution A C intron_variant BRCA-EU 14 100381655 100381655 single base substitution A C downstream_gene_variant BRCA-EU 14 100381655 100381655 single base substitution A C exon_variant BRCA-EU 14 100381655 100381655 single base substitution A C intron_variant BRCA-EU 14 100383120 100383120 single base substitution G C downstream_gene_variant BRCA-EU 14 100383120 100383120 single base substitution G C intron_variant BRCA-EU 14 100383542 100383542 single base substitution A G downstream_gene_variant BRCA-EU 14 100383542 100383542 single base substitution A G intron_variant BRCA-EU 14 100384249 100384249 single base substitution A G downstream_gene_variant BRCA-EU 14 100384249 100384249 single base substitution A G intron_variant BRCA-EU 14 100384380 100384380 single base substitution G A downstream_gene_variant BRCA-EU 14 100384380 100384380 single base substitution G A intron_variant BRCA-EU 14 100384861 100384861 single base substitution T G downstream_gene_variant BRCA-EU 14 100384861 100384861 single base substitution T G intron_variant BRCA-EU 14 100385636 100385636 single base substitution G C downstream_gene_variant BRCA-EU 14 100385636 100385636 single base substitution G C intron_variant BRCA-EU 14 100387858 100387858 single base substitution T C intron_variant BRCA-EU 14 100390139 100390139 deletion of <=200bp T - intron_variant BRCA-EU 14 100392199 100392199 single base substitution C T intron_variant BRCA-EU 14 100394742 100394742 single base substitution A G intron_variant BRCA-EU 14 100394970 100394970 single base substitution C G intron_variant BRCA-EU 14 100395042 100395042 single base substitution C T intron_variant BRCA-EU 14 100396045 100396046 deletion of <=200bp AG - intron_variant BRCA-EU 14 100396921 100396921 single base substitution C A intron_variant BRCA-EU 14 100396921 100396921 single base substitution C T intron_variant BRCA-EU 14 100397347 100397347 single base substitution C T intron_variant BRCA-EU 14 100397972 100397972 single base substitution G T intron_variant BRCA-EU 14 100397972 100397972 single base substitution G T upstream_gene_variant BRCA-EU 14 100398247 100398247 single base substitution C A intron_variant BRCA-EU 14 100398247 100398247 single base substitution C A upstream_gene_variant BRCA-EU 14 100399884 100399884 single base substitution T A intron_variant BRCA-EU 14 100399884 100399884 single base substitution T A upstream_gene_variant BRCA-EU 14 100400025 100400025 deletion of <=200bp A - intron_variant BRCA-EU 14 100400025 100400025 deletion of <=200bp A - upstream_gene_variant BRCA-EU 14 100401218 100401218 single base substitution T C intron_variant BRCA-EU 14 100401218 100401218 single base substitution T C upstream_gene_variant BRCA-EU 14 100402393 100402393 single base substitution A G 3_prime_UTR_variant BRCA-EU 14 100402393 100402393 single base substitution A G missense_variant H634R 1901A>G BRCA-EU 14 100402393 100402393 single base substitution A G missense_variant H646R 1937A>G BRCA-EU 14 100402393 100402393 single base substitution A G missense_variant H665R 1994A>G BRCA-EU 14 100402393 100402393 single base substitution A G upstream_gene_variant BRCA-EU 14 100403574 100403574 single base substitution G A intron_variant BRCA-EU 14 100403888 100403888 single base substitution G A intron_variant BRCA-EU 14 100403993 100403993 single base substitution A T intron_variant BRCA-EU 14 100404427 100404427 single base substitution G A intron_variant BRCA-EU 14 100405375 100405375 single base substitution G C intron_variant BRCA-EU 14 100407069 100407069 single base substitution A T 3_prime_UTR_variant BRCA-EU 14 100407069 100407069 single base substitution A T downstream_gene_variant BRCA-EU 14 100409560 100409560 single base substitution G A downstream_gene_variant BRCA-EU 14 100411024 100411024 deletion of <=200bp T - downstream_gene_variant BRCA-FR 14 100200262 100200262 single base substitution C T upstream_gene_variant BRCA-FR 14 100201452 100201452 single base substitution G T upstream_gene_variant BRCA-FR 14 100202312 100202312 single base substitution C G upstream_gene_variant BRCA-FR 14 100203788 100203788 single base substitution C G upstream_gene_variant BRCA-FR 14 100210363 100210363 single base substitution C G intron_variant BRCA-FR 14 100219972 100219972 single base substitution G A intron_variant BRCA-FR 14 100220959 100220959 single base substitution C G intron_variant BRCA-FR 14 100230584 100230584 single base substitution C T intron_variant BRCA-FR 14 100236853 100236853 single base substitution C G intron_variant BRCA-FR 14 100236853 100236853 single base substitution C G upstream_gene_variant BRCA-FR 14 100252727 100252727 single base substitution C A intron_variant BRCA-FR 14 100262718 100262718 single base substitution A C intron_variant BRCA-FR 14 100266362 100266362 single base substitution A C intron_variant BRCA-FR 14 100268433 100268433 single base substitution C T intron_variant BRCA-FR 14 100280318 100280318 single base substitution C T intron_variant BRCA-FR 14 100326980 100326980 single base substitution G A intron_variant BRCA-FR 14 100326980 100326980 single base substitution G A upstream_gene_variant BRCA-FR 14 100330888 100330888 single base substitution C T intron_variant BRCA-FR 14 100330888 100330888 single base substitution C T upstream_gene_variant BRCA-FR 14 100336152 100336152 single base substitution G A downstream_gene_variant BRCA-FR 14 100336152 100336152 single base substitution G A intron_variant BRCA-FR 14 100337959 100337959 single base substitution G C intron_variant BRCA-FR 14 100342252 100342252 single base substitution G A intron_variant BRCA-FR 14 100347257 100347257 single base substitution G T downstream_gene_variant BRCA-FR 14 100347257 100347257 single base substitution G T intron_variant BRCA-FR 14 100360441 100360441 single base substitution G A intron_variant BRCA-FR 14 100360441 100360441 single base substitution G A upstream_gene_variant BRCA-FR 14 100383120 100383120 single base substitution G C downstream_gene_variant BRCA-FR 14 100383120 100383120 single base substitution G C intron_variant BRCA-FR 14 100392716 100392716 single base substitution G C intron_variant BRCA-FR 14 100394970 100394970 single base substitution C G intron_variant BRCA-FR 14 100401218 100401218 single base substitution T C intron_variant BRCA-FR 14 100401218 100401218 single base substitution T C upstream_gene_variant BRCA-FR 14 100404427 100404427 single base substitution G A intron_variant BRCA-KR 14 100352347 100352347 single base substitution C A 3_prime_UTR_variant BRCA-KR 14 100352347 100352347 single base substitution C A downstream_gene_variant BRCA-KR 14 100352347 100352347 single base substitution C A intron_variant BRCA-UK 14 100203933 100203933 single base substitution G T upstream_gene_variant BRCA-UK 14 100208052 100208052 single base substitution C T intron_variant BRCA-UK 14 100208368 100208368 single base substitution G A intron_variant BRCA-UK 14 100212283 100212283 single base substitution G A intron_variant BRCA-UK 14 100232595 100232595 single base substitution G C intron_variant BRCA-UK 14 100266055 100266055 single base substitution T A intron_variant BRCA-UK 14 100300462 100300462 single base substitution G A intron_variant BRCA-UK 14 100300462 100300462 single base substitution G A upstream_gene_variant BRCA-UK 14 100303802 100303802 single base substitution G C intron_variant BRCA-UK 14 100303802 100303802 single base substitution G C upstream_gene_variant BRCA-UK 14 100334901 100334901 single base substitution A G downstream_gene_variant BRCA-UK 14 100334901 100334901 single base substitution A G intron_variant BRCA-UK 14 100353709 100353709 single base substitution C T downstream_gene_variant BRCA-UK 14 100353709 100353709 single base substitution C T intron_variant BRCA-UK 14 100377880 100377880 single base substitution G C downstream_gene_variant BRCA-UK 14 100377880 100377880 single base substitution G C exon_variant BRCA-UK 14 100377880 100377880 single base substitution G C missense_variant W179C 537G>C BRCA-UK 14 100377880 100377880 single base substitution G C missense_variant W475C 1425G>C BRCA-UK 14 100377880 100377880 single base substitution G C missense_variant W487C 1461G>C BRCA-UK 14 100377880 100377880 single base substitution G C missense_variant W506C 1518G>C BRCA-UK 14 100377880 100377880 single base substitution G C upstream_gene_variant BRCA-UK 14 100378496 100378496 single base substitution G C downstream_gene_variant BRCA-UK 14 100378496 100378496 single base substitution G C intron_variant BRCA-UK 14 100378496 100378496 single base substitution G C upstream_gene_variant BRCA-UK 14 100387858 100387858 single base substitution T C intron_variant BRCA-UK 14 100395042 100395042 single base substitution C T intron_variant BRCA-US 14 100363567 100363567 single base substitution G T exon_variant BRCA-US 14 100363567 100363567 single base substitution G T missense_variant V224L 670G>T BRCA-US 14 100363567 100363567 single base substitution G T missense_variant V242L 724G>T BRCA-US 14 100363567 100363567 single base substitution G T missense_variant V243L 727G>T BRCA-US 14 100363567 100363567 single base substitution G T missense_variant V255L 763G>T BRCA-US 14 100363567 100363567 single base substitution G T missense_variant V274L 820G>T BRCA-US 14 100363567 100363567 single base substitution G T upstream_gene_variant BRCA-US 14 100364613 100364613 single base substitution G T exon_variant BRCA-US 14 100364613 100364613 single base substitution G T missense_variant V15F 43G>T BRCA-US 14 100364613 100364613 single base substitution G T missense_variant V260F 778G>T BRCA-US 14 100364613 100364613 single base substitution G T missense_variant V278F 832G>T BRCA-US 14 100364613 100364613 single base substitution G T missense_variant V279F 835G>T BRCA-US 14 100364613 100364613 single base substitution G T missense_variant V291F 871G>T BRCA-US 14 100364613 100364613 single base substitution G T missense_variant V310F 928G>T BRCA-US 14 100364613 100364613 single base substitution G T upstream_gene_variant BRCA-US 14 100376585 100376585 single base substitution G A 3_prime_UTR_variant BRCA-US 14 100376585 100376585 single base substitution G A downstream_gene_variant BRCA-US 14 100376585 100376585 single base substitution G A exon_variant BRCA-US 14 100376585 100376585 single base substitution G A missense_variant E108K 322G>A BRCA-US 14 100376585 100376585 single base substitution G A missense_variant E404K 1210G>A BRCA-US 14 100376585 100376585 single base substitution G A missense_variant E416K 1246G>A BRCA-US 14 100376585 100376585 single base substitution G A missense_variant E435K 1303G>A BRCA-US 14 100376585 100376585 single base substitution G A upstream_gene_variant BRCA-US 14 100384181 100384181 single base substitution T C downstream_gene_variant BRCA-US 14 100384181 100384181 single base substitution T C exon_variant BRCA-US 14 100384181 100384181 single base substitution T C synonymous_variant T593T 1779T>C BRCA-US 14 100384181 100384181 single base substitution T C synonymous_variant T605T 1815T>C BRCA-US 14 100384181 100384181 single base substitution T C synonymous_variant T624T 1872T>C BRCA-US 14 100384182 100384182 single base substitution G T downstream_gene_variant BRCA-US 14 100384182 100384182 single base substitution G T exon_variant BRCA-US 14 100384182 100384182 single base substitution G T missense_variant G594W 1780G>T BRCA-US 14 100384182 100384182 single base substitution G T missense_variant G606W 1816G>T BRCA-US 14 100384182 100384182 single base substitution G T missense_variant G625W 1873G>T BRCA-US 14 100405619 100405619 single base substitution C G downstream_gene_variant BRCA-US 14 100405619 100405619 single base substitution C G exon_variant BRCA-US 14 100405619 100405619 single base substitution C G missense_variant D747E 2241C>G BRCA-US 14 100405619 100405619 single base substitution C G missense_variant D759E 2277C>G BRCA-US 14 100405619 100405619 single base substitution C G missense_variant D778E 2334C>G BRCA-US 14 100406371 100406371 single base substitution C T downstream_gene_variant BRCA-US 14 100406371 100406371 single base substitution C T exon_variant BRCA-US 14 100406371 100406371 single base substitution C T synonymous_variant V778V 2334C>T BRCA-US 14 100406371 100406371 single base substitution C T synonymous_variant V790V 2370C>T BRCA-US 14 100406371 100406371 single base substitution C T synonymous_variant V809V 2427C>T BTCA-JP 14 100316464 100316464 single base substitution C A 5_prime_UTR_variant BTCA-JP 14 100316464 100316464 single base substitution C A intron_variant BTCA-JP 14 100316464 100316464 single base substitution C A upstream_gene_variant BTCA-JP 14 100341312 100341312 single base substitution G C intron_variant BTCA-JP 14 100341312 100341312 single base substitution G C missense_variant R112T 335G>C BTCA-JP 14 100341312 100341312 single base substitution G C missense_variant R130T 389G>C BTCA-JP 14 100341312 100341312 single base substitution G C missense_variant R143T 428G>C BTCA-JP 14 100352434 100352434 single base substitution T A 3_prime_UTR_variant BTCA-JP 14 100352434 100352434 single base substitution T A downstream_gene_variant BTCA-JP 14 100352434 100352434 single base substitution T A intron_variant BTCA-JP 14 100380948 100380948 single base substitution T C downstream_gene_variant BTCA-JP 14 100380948 100380948 single base substitution T C exon_variant BTCA-JP 14 100380948 100380948 single base substitution T C missense_variant S544P 1630T>C BTCA-JP 14 100380948 100380948 single base substitution T C missense_variant S556P 1666T>C BTCA-JP 14 100380948 100380948 single base substitution T C missense_variant S575P 1723T>C BTCA-JP 14 100384167 100384167 single base substitution G T downstream_gene_variant BTCA-JP 14 100384167 100384167 single base substitution G T exon_variant BTCA-JP 14 100384167 100384167 single base substitution G T missense_variant V589F 1765G>T BTCA-JP 14 100384167 100384167 single base substitution G T missense_variant V601F 1801G>T BTCA-JP 14 100384167 100384167 single base substitution G T missense_variant V620F 1858G>T BTCA-JP 14 100387252 100387252 single base substitution T A intron_variant BTCA-JP 14 100404351 100404351 single base substitution T C intron_variant CESC-US 14 100402637 100402637 single base substitution C T 3_prime_UTR_variant CESC-US 14 100402637 100402637 single base substitution C T exon_variant CESC-US 14 100402637 100402637 single base substitution C T synonymous_variant L675L 2025C>T CESC-US 14 100402637 100402637 single base substitution C T synonymous_variant L687L 2061C>T CESC-US 14 100402637 100402637 single base substitution C T synonymous_variant L706L 2118C>T CESC-US 14 100402642 100402642 single base substitution C G 3_prime_UTR_variant CESC-US 14 100402642 100402642 single base substitution C G exon_variant CESC-US 14 100402642 100402642 single base substitution C G stop_gained S677* 2030C>G CESC-US 14 100402642 100402642 single base substitution C G stop_gained S689* 2066C>G CESC-US 14 100402642 100402642 single base substitution C G stop_gained S708* 2123C>G CLLE-ES 14 100202868 100202868 single base substitution C T upstream_gene_variant CLLE-ES 14 100210376 100210376 single base substitution A G intron_variant CLLE-ES 14 100231328 100231328 single base substitution G A intron_variant CLLE-ES 14 100239729 100239729 single base substitution G T 5_prime_UTR_variant CLLE-ES 14 100239729 100239729 single base substitution G T intron_variant CLLE-ES 14 100239729 100239729 single base substitution G T upstream_gene_variant CLLE-ES 14 100240894 100240894 single base substitution C T intron_variant CLLE-ES 14 100254022 100254022 single base substitution G T intron_variant CLLE-ES 14 100254022 100254022 single base substitution G T upstream_gene_variant CLLE-ES 14 100272918 100272918 single base substitution G T intron_variant CLLE-ES 14 100272918 100272918 single base substitution G T upstream_gene_variant CLLE-ES 14 100290971 100290971 single base substitution G A intron_variant CLLE-ES 14 100292692 100292692 single base substitution C T intron_variant CLLE-ES 14 100295106 100295106 single base substitution G A intron_variant CLLE-ES 14 100304725 100304725 single base substitution A C intron_variant CLLE-ES 14 100304725 100304725 single base substitution A C upstream_gene_variant CLLE-ES 14 100313276 100313276 single base substitution T C intron_variant CLLE-ES 14 100313276 100313276 single base substitution T C upstream_gene_variant CLLE-ES 14 100315886 100315886 single base substitution A G intron_variant CLLE-ES 14 100315886 100315886 single base substitution A G upstream_gene_variant CLLE-ES 14 100326292 100326292 single base substitution C T intron_variant CLLE-ES 14 100329129 100329129 single base substitution G A intron_variant CLLE-ES 14 100329129 100329129 single base substitution G A upstream_gene_variant CLLE-ES 14 100329409 100329409 single base substitution T A intron_variant CLLE-ES 14 100329409 100329409 single base substitution T A upstream_gene_variant CLLE-ES 14 100360672 100360672 single base substitution G A intron_variant CLLE-ES 14 100360672 100360672 single base substitution G A upstream_gene_variant CLLE-ES 14 100375147 100375147 single base substitution G A intron_variant CLLE-ES 14 100388759 100388759 single base substitution G T intron_variant CLLE-ES 14 100398668 100398668 single base substitution A G intron_variant CLLE-ES 14 100398668 100398668 single base substitution A G upstream_gene_variant CLLE-ES 14 100400865 100400865 single base substitution C A intron_variant CLLE-ES 14 100400865 100400865 single base substitution C A upstream_gene_variant CLLE-ES 14 100406551 100406551 single base substitution A C 3_prime_UTR_variant CLLE-ES 14 100406551 100406551 single base substitution A C downstream_gene_variant CLLE-ES 14 100408613 100408622 deletion of <=200bp GTAAGATGAG - downstream_gene_variant COAD-US 14 100317272 100317272 single base substitution C T exon_variant COAD-US 14 100317272 100317272 single base substitution C T synonymous_variant D19D 57C>T COAD-US 14 100317272 100317272 single base substitution C T synonymous_variant D31D 93C>T COAD-US 14 100317272 100317272 single base substitution C T synonymous_variant D37D 111C>T COAD-US 14 100317272 100317272 single base substitution C T synonymous_variant D50D 150C>T COAD-US 14 100317272 100317272 single base substitution C T synonymous_variant D56D 168C>T COAD-US 14 100331899 100331899 single base substitution G A 3_prime_UTR_variant COAD-US 14 100331899 100331899 single base substitution G A exon_variant COAD-US 14 100331899 100331899 single base substitution G A missense_variant G100D 299G>A COAD-US 14 100331899 100331899 single base substitution G A missense_variant G106D 317G>A COAD-US 14 100331899 100331899 single base substitution G A missense_variant G69D 206G>A COAD-US 14 100331899 100331899 single base substitution G A missense_variant G81D 242G>A COAD-US 14 100331899 100331899 single base substitution G A missense_variant G87D 260G>A COAD-US 14 100331899 100331899 single base substitution G A upstream_gene_variant COAD-US 14 100344907 100344907 single base substitution C T downstream_gene_variant COAD-US 14 100344907 100344907 single base substitution C T exon_variant COAD-US 14 100344907 100344907 single base substitution C T missense_variant R126C 376C>T COAD-US 14 100344907 100344907 single base substitution C T missense_variant R144C 430C>T COAD-US 14 100344907 100344907 single base substitution C T missense_variant R145C 433C>T COAD-US 14 100344907 100344907 single base substitution C T missense_variant R157C 469C>T COAD-US 14 100344907 100344907 single base substitution C T missense_variant R176C 526C>T COAD-US 14 100344907 100344907 single base substitution C T missense_variant R42C 124C>T COAD-US 14 100363560 100363560 single base substitution C T exon_variant COAD-US 14 100363560 100363560 single base substitution C T synonymous_variant S221S 663C>T COAD-US 14 100363560 100363560 single base substitution C T synonymous_variant S239S 717C>T COAD-US 14 100363560 100363560 single base substitution C T synonymous_variant S240S 720C>T COAD-US 14 100363560 100363560 single base substitution C T synonymous_variant S252S 756C>T COAD-US 14 100363560 100363560 single base substitution C T synonymous_variant S271S 813C>T COAD-US 14 100363560 100363560 single base substitution C T upstream_gene_variant COAD-US 14 100375707 100375707 single base substitution C T 3_prime_UTR_variant COAD-US 14 100375707 100375707 single base substitution C T exon_variant COAD-US 14 100375707 100375707 single base substitution C T missense_variant A364V 1091C>T COAD-US 14 100375707 100375707 single base substitution C T missense_variant A365V 1094C>T COAD-US 14 100375707 100375707 single base substitution C T missense_variant A377V 1130C>T COAD-US 14 100375707 100375707 single base substitution C T missense_variant A396V 1187C>T COAD-US 14 100375707 100375707 single base substitution C T missense_variant A69V 206C>T COAD-US 14 100380541 100380541 single base substitution G A downstream_gene_variant COAD-US 14 100380541 100380541 single base substitution G A exon_variant COAD-US 14 100380541 100380541 single base substitution G A missense_variant R495Q 1484G>A COAD-US 14 100380541 100380541 single base substitution G A missense_variant R507Q 1520G>A COAD-US 14 100380541 100380541 single base substitution G A missense_variant R526Q 1577G>A COAD-US 14 100380541 100380541 single base substitution G A upstream_gene_variant COAD-US 14 100380617 100380617 single base substitution A G downstream_gene_variant COAD-US 14 100380617 100380617 single base substitution A G exon_variant COAD-US 14 100380617 100380617 single base substitution A G synonymous_variant S520S 1560A>G COAD-US 14 100380617 100380617 single base substitution A G synonymous_variant S532S 1596A>G COAD-US 14 100380617 100380617 single base substitution A G synonymous_variant S551S 1653A>G COAD-US 14 100380617 100380617 single base substitution A G upstream_gene_variant COAD-US 14 100404234 100404234 single base substitution G C 3_prime_UTR_variant COAD-US 14 100404234 100404234 single base substitution G C exon_variant COAD-US 14 100404234 100404234 single base substitution G C missense_variant G714R 2140G>C COAD-US 14 100404234 100404234 single base substitution G C missense_variant G726R 2176G>C COAD-US 14 100404234 100404234 single base substitution G C missense_variant G745R 2233G>C COAD-US 14 100405563 100405563 single base substitution G A 3_prime_UTR_variant COAD-US 14 100405563 100405563 single base substitution G A exon_variant COAD-US 14 100405563 100405563 single base substitution G A missense_variant D729N 2185G>A COAD-US 14 100405563 100405563 single base substitution G A missense_variant D741N 2221G>A COAD-US 14 100405563 100405563 single base substitution G A missense_variant D760N 2278G>A COAD-US 14 100406345 100406345 single base substitution G A downstream_gene_variant COAD-US 14 100406345 100406345 single base substitution G A exon_variant COAD-US 14 100406345 100406345 single base substitution G A missense_variant G770R 2308G>A COAD-US 14 100406345 100406345 single base substitution G A missense_variant G782R 2344G>A COAD-US 14 100406345 100406345 single base substitution G A missense_variant G801R 2401G>A COAD-US 14 100406435 100406435 insertion of <=200bp - G downstream_gene_variant COAD-US 14 100406435 100406435 insertion of <=200bp - G exon_variant COAD-US 14 100406435 100406435 insertion of <=200bp - G frameshift_variant W800V? COAD-US 14 100406435 100406435 insertion of <=200bp - G frameshift_variant W812V? COAD-US 14 100406435 100406435 insertion of <=200bp - G frameshift_variant W831V? COCA-CN 14 100205458 100205458 single base substitution T A intron_variant COCA-CN 14 100232550 100232550 single base substitution G T intron_variant COCA-CN 14 100276054 100276054 single base substitution C A intron_variant COCA-CN 14 100315604 100315604 single base substitution C T intron_variant COCA-CN 14 100315604 100315604 single base substitution C T upstream_gene_variant COCA-CN 14 100317066 100317066 single base substitution C A intron_variant COCA-CN 14 100317066 100317066 single base substitution C A upstream_gene_variant COCA-CN 14 100317228 100317228 single base substitution G A exon_variant COCA-CN 14 100317228 100317228 single base substitution G A missense_variant D17N 49G>A COCA-CN 14 100317228 100317228 single base substitution G A missense_variant D23N 67G>A COCA-CN 14 100317228 100317228 single base substitution G A missense_variant D36N 106G>A COCA-CN 14 100317228 100317228 single base substitution G A missense_variant D42N 124G>A COCA-CN 14 100317228 100317228 single base substitution G A missense_variant D5N 13G>A COCA-CN 14 100338962 100338962 single base substitution G A intron_variant COCA-CN 14 100344827 100344827 single base substitution T C 3_prime_UTR_variant COCA-CN 14 100344827 100344827 single base substitution T C exon_variant COCA-CN 14 100344827 100344827 single base substitution T C missense_variant I117T 350T>C COCA-CN 14 100344827 100344827 single base substitution T C missense_variant I118T 353T>C COCA-CN 14 100344827 100344827 single base substitution T C missense_variant I130T 389T>C COCA-CN 14 100344827 100344827 single base substitution T C missense_variant I136T 407T>C COCA-CN 14 100344827 100344827 single base substitution T C missense_variant I149T 446T>C COCA-CN 14 100344827 100344827 single base substitution T C missense_variant I15T 44T>C COCA-CN 14 100344827 100344827 single base substitution T C missense_variant I99T 296T>C COCA-CN 14 100357324 100357324 single base substitution G A downstream_gene_variant COCA-CN 14 100357324 100357324 single base substitution G A intron_variant COCA-CN 14 100357324 100357324 single base substitution G A upstream_gene_variant COCA-CN 14 100363554 100363554 single base substitution C T exon_variant COCA-CN 14 100363554 100363554 single base substitution C T synonymous_variant I219I 657C>T COCA-CN 14 100363554 100363554 single base substitution C T synonymous_variant I237I 711C>T COCA-CN 14 100363554 100363554 single base substitution C T synonymous_variant I238I 714C>T COCA-CN 14 100363554 100363554 single base substitution C T synonymous_variant I250I 750C>T COCA-CN 14 100363554 100363554 single base substitution C T synonymous_variant I269I 807C>T COCA-CN 14 100363554 100363554 single base substitution C T upstream_gene_variant COCA-CN 14 100367243 100367243 single base substitution C T intron_variant COCA-CN 14 100374037 100374037 single base substitution C T exon_variant COCA-CN 14 100374037 100374037 single base substitution C T intron_variant COCA-CN 14 100374037 100374037 single base substitution C T synonymous_variant D344D 1032C>T COCA-CN 14 100374037 100374037 single base substitution C T synonymous_variant D345D 1035C>T COCA-CN 14 100374037 100374037 single base substitution C T synonymous_variant D357D 1071C>T COCA-CN 14 100374037 100374037 single base substitution C T synonymous_variant D376D 1128C>T COCA-CN 14 100375684 100375684 single base substitution C A 3_prime_UTR_variant COCA-CN 14 100375684 100375684 single base substitution C A splice_region_variant COCA-CN 14 100375684 100375684 single base substitution C A stop_gained C356* 1068C>A COCA-CN 14 100375684 100375684 single base substitution C A stop_gained C357* 1071C>A COCA-CN 14 100375684 100375684 single base substitution C A stop_gained C369* 1107C>A COCA-CN 14 100375684 100375684 single base substitution C A stop_gained C388* 1164C>A COCA-CN 14 100375684 100375684 single base substitution C A stop_gained C61* 183C>A COCA-CN 14 100376770 100376770 single base substitution G A downstream_gene_variant COCA-CN 14 100376770 100376770 single base substitution G A intron_variant COCA-CN 14 100376770 100376770 single base substitution G A upstream_gene_variant COCA-CN 14 100377884 100377884 single base substitution G A downstream_gene_variant COCA-CN 14 100377884 100377884 single base substitution G A exon_variant COCA-CN 14 100377884 100377884 single base substitution G A missense_variant G181R 541G>A COCA-CN 14 100377884 100377884 single base substitution G A missense_variant G477R 1429G>A COCA-CN 14 100377884 100377884 single base substitution G A missense_variant G489R 1465G>A COCA-CN 14 100377884 100377884 single base substitution G A missense_variant G508R 1522G>A COCA-CN 14 100377884 100377884 single base substitution G A upstream_gene_variant COCA-CN 14 100383963 100383963 single base substitution C G downstream_gene_variant COCA-CN 14 100383963 100383963 single base substitution C G intron_variant COCA-CN 14 100387083 100387083 single base substitution C T intron_variant COCA-CN 14 100387184 100387184 single base substitution G A exon_variant COCA-CN 14 100387184 100387184 single base substitution G A missense_variant E615K 1843G>A COCA-CN 14 100387184 100387184 single base substitution G A missense_variant E627K 1879G>A COCA-CN 14 100387184 100387184 single base substitution G A missense_variant E646K 1936G>A COCA-CN 14 100394380 100394380 single base substitution G T intron_variant COCA-CN 14 100394381 100394381 single base substitution A G intron_variant COCA-CN 14 100404307 100404307 single base substitution T G intron_variant COCA-CN 14 100406371 100406371 single base substitution C T downstream_gene_variant COCA-CN 14 100406371 100406371 single base substitution C T exon_variant COCA-CN 14 100406371 100406371 single base substitution C T synonymous_variant V778V 2334C>T COCA-CN 14 100406371 100406371 single base substitution C T synonymous_variant V790V 2370C>T COCA-CN 14 100406371 100406371 single base substitution C T synonymous_variant V809V 2427C>T EOPC-DE 14 100315872 100315872 single base substitution A T intron_variant EOPC-DE 14 100315872 100315872 single base substitution A T upstream_gene_variant EOPC-DE 14 100394528 100394528 single base substitution G A intron_variant ESAD-UK 14 100199946 100199946 single base substitution C T upstream_gene_variant ESAD-UK 14 100202864 100202864 single base substitution A C upstream_gene_variant ESAD-UK 14 100205481 100205481 deletion of <=200bp G - intron_variant ESAD-UK 14 100205483 100205491 deletion of <=200bp GTGTGTGTG - intron_variant ESAD-UK 14 100206023 100206023 single base substitution T G intron_variant ESAD-UK 14 100206094 100206094 single base substitution G C intron_variant ESAD-UK 14 100208260 100208260 single base substitution C T intron_variant ESAD-UK 14 100209317 100209317 single base substitution G C intron_variant ESAD-UK 14 100209833 100209833 single base substitution C T intron_variant ESAD-UK 14 100210315 100210315 deletion of <=200bp T - intron_variant ESAD-UK 14 100211771 100211771 single base substitution A G intron_variant ESAD-UK 14 100214543 100214543 single base substitution G T intron_variant ESAD-UK 14 100215115 100215115 single base substitution G A intron_variant ESAD-UK 14 100215142 100215142 single base substitution G A intron_variant ESAD-UK 14 100215520 100215520 single base substitution G A intron_variant ESAD-UK 14 100216078 100216078 single base substitution C A intron_variant ESAD-UK 14 100216967 100216967 single base substitution A C intron_variant ESAD-UK 14 100217220 100217220 single base substitution G A intron_variant ESAD-UK 14 100217467 100217467 single base substitution C T intron_variant ESAD-UK 14 100221008 100221008 single base substitution C A intron_variant ESAD-UK 14 100221908 100221908 deletion of <=200bp A - intron_variant ESAD-UK 14 100222383 100222383 single base substitution C T intron_variant ESAD-UK 14 100222801 100222801 single base substitution C T intron_variant ESAD-UK 14 100223215 100223215 single base substitution G T intron_variant ESAD-UK 14 100223362 100223362 single base substitution G A intron_variant ESAD-UK 14 100226133 100226133 single base substitution G A intron_variant ESAD-UK 14 100226188 100226188 single base substitution C T intron_variant ESAD-UK 14 100228589 100228589 deletion of <=200bp A - intron_variant ESAD-UK 14 100229057 100229057 single base substitution G T intron_variant ESAD-UK 14 100230906 100230906 single base substitution T C intron_variant ESAD-UK 14 100231266 100231266 single base substitution T G intron_variant ESAD-UK 14 100231442 100231442 deletion of <=200bp T - intron_variant ESAD-UK 14 100231557 100231557 single base substitution C T intron_variant ESAD-UK 14 100231955 100231955 single base substitution T G intron_variant ESAD-UK 14 100233515 100233515 single base substitution G T intron_variant ESAD-UK 14 100235247 100235247 single base substitution G A intron_variant ESAD-UK 14 100235247 100235247 single base substitution G A upstream_gene_variant ESAD-UK 14 100235353 100235353 single base substitution C T intron_variant ESAD-UK 14 100235353 100235353 single base substitution C T upstream_gene_variant ESAD-UK 14 100235605 100235605 single base substitution G T intron_variant ESAD-UK 14 100235605 100235605 single base substitution G T upstream_gene_variant ESAD-UK 14 100236551 100236551 single base substitution C T intron_variant ESAD-UK 14 100236551 100236551 single base substitution C T upstream_gene_variant ESAD-UK 14 100238704 100238704 single base substitution C A intron_variant ESAD-UK 14 100238704 100238704 single base substitution C A upstream_gene_variant ESAD-UK 14 100240241 100240241 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 14 100240241 100240241 single base substitution C T intron_variant ESAD-UK 14 100242559 100242559 single base substitution C T intron_variant ESAD-UK 14 100242795 100242795 single base substitution C T intron_variant ESAD-UK 14 100243312 100243312 single base substitution C T intron_variant ESAD-UK 14 100245106 100245106 deletion of <=200bp T - intron_variant ESAD-UK 14 100245712 100245712 single base substitution A C intron_variant ESAD-UK 14 100245877 100245877 single base substitution A C intron_variant ESAD-UK 14 100246452 100246452 single base substitution C A intron_variant ESAD-UK 14 100248794 100248794 single base substitution C A intron_variant ESAD-UK 14 100248998 100248999 deletion of <=200bp CT - intron_variant ESAD-UK 14 100250588 100250588 single base substitution C A intron_variant ESAD-UK 14 100250588 100250588 single base substitution C T intron_variant ESAD-UK 14 100251436 100251436 single base substitution G A intron_variant ESAD-UK 14 100252541 100252541 single base substitution G A intron_variant ESAD-UK 14 100254286 100254286 single base substitution T G intron_variant ESAD-UK 14 100254286 100254286 single base substitution T G upstream_gene_variant ESAD-UK 14 100254467 100254467 single base substitution C T intron_variant ESAD-UK 14 100254467 100254467 single base substitution C T upstream_gene_variant ESAD-UK 14 100255186 100255186 single base substitution C G intron_variant ESAD-UK 14 100255186 100255186 single base substitution C G upstream_gene_variant ESAD-UK 14 100257159 100257159 deletion of <=200bp C - intron_variant ESAD-UK 14 100257159 100257159 deletion of <=200bp C - upstream_gene_variant ESAD-UK 14 100258618 100258618 single base substitution A G intron_variant ESAD-UK 14 100258618 100258618 single base substitution A G upstream_gene_variant ESAD-UK 14 100259286 100259286 single base substitution C A intron_variant ESAD-UK 14 100259286 100259286 single base substitution C A upstream_gene_variant ESAD-UK 14 100259312 100259312 single base substitution G A intron_variant ESAD-UK 14 100259312 100259312 single base substitution G A upstream_gene_variant ESAD-UK 14 100261211 100261211 single base substitution A G intron_variant ESAD-UK 14 100262377 100262377 single base substitution G A intron_variant ESAD-UK 14 100263347 100263347 single base substitution G A intron_variant ESAD-UK 14 100266482 100266482 single base substitution T C intron_variant ESAD-UK 14 100266624 100266624 single base substitution T C intron_variant ESAD-UK 14 100266848 100266848 single base substitution G A intron_variant ESAD-UK 14 100266876 100266876 single base substitution A C intron_variant ESAD-UK 14 100267214 100267214 single base substitution G A intron_variant ESAD-UK 14 100267438 100267438 single base substitution A T intron_variant ESAD-UK 14 100270258 100270258 single base substitution A G intron_variant ESAD-UK 14 100270872 100270872 single base substitution G T intron_variant ESAD-UK 14 100270872 100270872 single base substitution G T upstream_gene_variant ESAD-UK 14 100271192 100271192 single base substitution G A intron_variant ESAD-UK 14 100271192 100271192 single base substitution G A upstream_gene_variant ESAD-UK 14 100272206 100272206 single base substitution C T intron_variant ESAD-UK 14 100272206 100272206 single base substitution C T upstream_gene_variant ESAD-UK 14 100272714 100272714 single base substitution G A intron_variant ESAD-UK 14 100272714 100272714 single base substitution G A upstream_gene_variant ESAD-UK 14 100274943 100274943 single base substitution T G intron_variant ESAD-UK 14 100274943 100274943 single base substitution T G upstream_gene_variant ESAD-UK 14 100274969 100274969 single base substitution T A intron_variant ESAD-UK 14 100274969 100274969 single base substitution T A upstream_gene_variant ESAD-UK 14 100274978 100274978 single base substitution C T intron_variant ESAD-UK 14 100274978 100274978 single base substitution C T upstream_gene_variant ESAD-UK 14 100277500 100277500 deletion of <=200bp G - intron_variant ESAD-UK 14 100277565 100277565 single base substitution C A intron_variant ESAD-UK 14 100278581 100278581 single base substitution G T intron_variant ESAD-UK 14 100279789 100279789 single base substitution C T intron_variant ESAD-UK 14 100279965 100279965 single base substitution G T intron_variant ESAD-UK 14 100280618 100280618 insertion of <=200bp - T intron_variant ESAD-UK 14 100280624 100280624 single base substitution T A intron_variant ESAD-UK 14 100280761 100280761 single base substitution G A intron_variant ESAD-UK 14 100281040 100281040 single base substitution C A intron_variant ESAD-UK 14 100282060 100282060 single base substitution G A intron_variant ESAD-UK 14 100283793 100283793 single base substitution G A intron_variant ESAD-UK 14 100284545 100284545 single base substitution T C intron_variant ESAD-UK 14 100284933 100284933 single base substitution C T intron_variant ESAD-UK 14 100285241 100285241 single base substitution A C intron_variant ESAD-UK 14 100286200 100286200 single base substitution C A intron_variant ESAD-UK 14 100288163 100288163 single base substitution C A intron_variant ESAD-UK 14 100288657 100288657 single base substitution A T intron_variant ESAD-UK 14 100289122 100289122 single base substitution A C intron_variant ESAD-UK 14 100289393 100289393 single base substitution C A intron_variant ESAD-UK 14 100289666 100289666 single base substitution C T intron_variant ESAD-UK 14 100290592 100290592 single base substitution C T intron_variant ESAD-UK 14 100292033 100292033 single base substitution G A intron_variant ESAD-UK 14 100293624 100293624 single base substitution G A intron_variant ESAD-UK 14 100293708 100293708 single base substitution G A intron_variant ESAD-UK 14 100294761 100294761 single base substitution C G intron_variant ESAD-UK 14 100295281 100295281 deletion of <=200bp T - intron_variant ESAD-UK 14 100296418 100296418 single base substitution C T intron_variant ESAD-UK 14 100296508 100296508 single base substitution T G intron_variant ESAD-UK 14 100296726 100296726 deletion of <=200bp G - intron_variant ESAD-UK 14 100298523 100298523 single base substitution G A intron_variant ESAD-UK 14 100299213 100299213 insertion of <=200bp - T intron_variant ESAD-UK 14 100299557 100299557 single base substitution T G intron_variant ESAD-UK 14 100300148 100300148 single base substitution A G intron_variant ESAD-UK 14 100301224 100301224 single base substitution T C intron_variant ESAD-UK 14 100301224 100301224 single base substitution T C upstream_gene_variant ESAD-UK 14 100301438 100301438 single base substitution C A intron_variant ESAD-UK 14 100301438 100301438 single base substitution C A upstream_gene_variant ESAD-UK 14 100301448 100301448 single base substitution C T intron_variant ESAD-UK 14 100301448 100301448 single base substitution C T upstream_gene_variant ESAD-UK 14 100303851 100303851 deletion of <=200bp T - intron_variant ESAD-UK 14 100303851 100303851 deletion of <=200bp T - upstream_gene_variant ESAD-UK 14 100304581 100304581 deletion of <=200bp A - intron_variant ESAD-UK 14 100304581 100304581 deletion of <=200bp A - upstream_gene_variant ESAD-UK 14 100305268 100305268 insertion of <=200bp - GCGC intron_variant ESAD-UK 14 100305268 100305268 insertion of <=200bp - GCGC upstream_gene_variant ESAD-UK 14 100306071 100306071 single base substitution T A intron_variant ESAD-UK 14 100306309 100306309 single base substitution G A intron_variant ESAD-UK 14 100306411 100306411 single base substitution G T intron_variant ESAD-UK 14 100311843 100311843 single base substitution G T intron_variant ESAD-UK 14 100313218 100313218 single base substitution G C intron_variant ESAD-UK 14 100313218 100313218 single base substitution G C upstream_gene_variant ESAD-UK 14 100313250 100313250 single base substitution G T intron_variant ESAD-UK 14 100313250 100313250 single base substitution G T upstream_gene_variant ESAD-UK 14 100315309 100315309 single base substitution A T intron_variant ESAD-UK 14 100315309 100315309 single base substitution A T upstream_gene_variant ESAD-UK 14 100316007 100316007 single base substitution C T intron_variant ESAD-UK 14 100316007 100316007 single base substitution C T upstream_gene_variant ESAD-UK 14 100316032 100316032 single base substitution G A intron_variant ESAD-UK 14 100316032 100316032 single base substitution G A upstream_gene_variant ESAD-UK 14 100318039 100318039 insertion of <=200bp - T intron_variant ESAD-UK 14 100318087 100318087 single base substitution C T intron_variant ESAD-UK 14 100319764 100319764 single base substitution A C intron_variant ESAD-UK 14 100320102 100320102 single base substitution G A intron_variant ESAD-UK 14 100320336 100320336 deletion of <=200bp T - intron_variant ESAD-UK 14 100321176 100321176 single base substitution C T intron_variant ESAD-UK 14 100322430 100322430 single base substitution C A intron_variant ESAD-UK 14 100322511 100322511 single base substitution A C intron_variant ESAD-UK 14 100323842 100323842 single base substitution C T intron_variant ESAD-UK 14 100327284 100327284 single base substitution C T intron_variant ESAD-UK 14 100327284 100327284 single base substitution C T upstream_gene_variant ESAD-UK 14 100327355 100327357 deletion of <=200bp ACA - intron_variant ESAD-UK 14 100327355 100327357 deletion of <=200bp ACA - upstream_gene_variant ESAD-UK 14 100327494 100327494 single base substitution C A intron_variant ESAD-UK 14 100327494 100327494 single base substitution C A upstream_gene_variant ESAD-UK 14 100328891 100328891 single base substitution G A intron_variant ESAD-UK 14 100328891 100328891 single base substitution G A upstream_gene_variant ESAD-UK 14 100331250 100331250 single base substitution T G intron_variant ESAD-UK 14 100331250 100331250 single base substitution T G upstream_gene_variant ESAD-UK 14 100331539 100331539 single base substitution G T intron_variant ESAD-UK 14 100331539 100331539 single base substitution G T upstream_gene_variant ESAD-UK 14 100332317 100332317 single base substitution C A downstream_gene_variant ESAD-UK 14 100332317 100332317 single base substitution C A intron_variant ESAD-UK 14 100335735 100335735 single base substitution A C downstream_gene_variant ESAD-UK 14 100335735 100335735 single base substitution A C intron_variant ESAD-UK 14 100337460 100337460 single base substitution A C intron_variant ESAD-UK 14 100338165 100338165 single base substitution T C intron_variant ESAD-UK 14 100338615 100338615 single base substitution C T intron_variant ESAD-UK 14 100339749 100339749 single base substitution G A intron_variant ESAD-UK 14 100342709 100342709 single base substitution C T intron_variant ESAD-UK 14 100342956 100342956 single base substitution G C intron_variant ESAD-UK 14 100343838 100343838 single base substitution C G intron_variant ESAD-UK 14 100344025 100344025 single base substitution C T intron_variant ESAD-UK 14 100344518 100344518 single base substitution A C intron_variant ESAD-UK 14 100344643 100344643 single base substitution G T intron_variant ESAD-UK 14 100344652 100344652 single base substitution G A intron_variant ESAD-UK 14 100346685 100346685 single base substitution A C downstream_gene_variant ESAD-UK 14 100346685 100346685 single base substitution A C intron_variant ESAD-UK 14 100349023 100349023 deletion of <=200bp A - downstream_gene_variant ESAD-UK 14 100349023 100349023 deletion of <=200bp A - intron_variant ESAD-UK 14 100349172 100349172 single base substitution A C downstream_gene_variant ESAD-UK 14 100349172 100349172 single base substitution A C intron_variant ESAD-UK 14 100349594 100349594 single base substitution G A downstream_gene_variant ESAD-UK 14 100349594 100349594 single base substitution G A exon_variant ESAD-UK 14 100349594 100349594 single base substitution G A intron_variant ESAD-UK 14 100350587 100350587 single base substitution C A downstream_gene_variant ESAD-UK 14 100350587 100350587 single base substitution C A intron_variant ESAD-UK 14 100352331 100352331 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 100352331 100352331 single base substitution G A downstream_gene_variant ESAD-UK 14 100352331 100352331 single base substitution G A intron_variant ESAD-UK 14 100353710 100353710 single base substitution G A downstream_gene_variant ESAD-UK 14 100353710 100353710 single base substitution G A intron_variant ESAD-UK 14 100354337 100354337 single base substitution A G downstream_gene_variant ESAD-UK 14 100354337 100354337 single base substitution A G intron_variant ESAD-UK 14 100354445 100354445 single base substitution G A downstream_gene_variant ESAD-UK 14 100354445 100354445 single base substitution G A intron_variant ESAD-UK 14 100354964 100354964 single base substitution A C downstream_gene_variant ESAD-UK 14 100354964 100354964 single base substitution A C intron_variant ESAD-UK 14 100355218 100355218 single base substitution G A downstream_gene_variant ESAD-UK 14 100355218 100355218 single base substitution G A intron_variant ESAD-UK 14 100355966 100355966 single base substitution G A downstream_gene_variant ESAD-UK 14 100355966 100355966 single base substitution G A intron_variant ESAD-UK 14 100355966 100355966 single base substitution G A upstream_gene_variant ESAD-UK 14 100355969 100355969 single base substitution T G downstream_gene_variant ESAD-UK 14 100355969 100355969 single base substitution T G intron_variant ESAD-UK 14 100355969 100355969 single base substitution T G upstream_gene_variant ESAD-UK 14 100356137 100356137 single base substitution T A downstream_gene_variant ESAD-UK 14 100356137 100356137 single base substitution T A intron_variant ESAD-UK 14 100356137 100356137 single base substitution T A upstream_gene_variant ESAD-UK 14 100356472 100356472 insertion of <=200bp - AC downstream_gene_variant ESAD-UK 14 100356472 100356472 insertion of <=200bp - AC intron_variant ESAD-UK 14 100356472 100356472 insertion of <=200bp - AC upstream_gene_variant ESAD-UK 14 100357169 100357169 single base substitution A C downstream_gene_variant ESAD-UK 14 100357169 100357169 single base substitution A C intron_variant ESAD-UK 14 100357169 100357169 single base substitution A C upstream_gene_variant ESAD-UK 14 100359597 100359597 single base substitution G A intron_variant ESAD-UK 14 100359597 100359597 single base substitution G A upstream_gene_variant ESAD-UK 14 100359905 100359905 single base substitution A G intron_variant ESAD-UK 14 100359905 100359905 single base substitution A G upstream_gene_variant ESAD-UK 14 100360600 100360600 single base substitution A C intron_variant ESAD-UK 14 100360600 100360600 single base substitution A C upstream_gene_variant ESAD-UK 14 100360644 100360644 deletion of <=200bp T - intron_variant ESAD-UK 14 100360644 100360644 deletion of <=200bp T - upstream_gene_variant ESAD-UK 14 100362507 100362507 single base substitution A T intron_variant ESAD-UK 14 100362507 100362507 single base substitution A T upstream_gene_variant ESAD-UK 14 100363035 100363035 single base substitution A C intron_variant ESAD-UK 14 100363035 100363035 single base substitution A C upstream_gene_variant ESAD-UK 14 100363205 100363205 insertion of <=200bp - A intron_variant ESAD-UK 14 100363205 100363205 insertion of <=200bp - A upstream_gene_variant ESAD-UK 14 100363893 100363893 single base substitution C T intron_variant ESAD-UK 14 100363893 100363893 single base substitution C T upstream_gene_variant ESAD-UK 14 100364421 100364421 single base substitution G A intron_variant ESAD-UK 14 100364421 100364421 single base substitution G A upstream_gene_variant ESAD-UK 14 100364827 100364827 single base substitution G A intron_variant ESAD-UK 14 100364827 100364827 single base substitution G A upstream_gene_variant ESAD-UK 14 100365189 100365189 single base substitution C T intron_variant ESAD-UK 14 100365189 100365189 single base substitution C T upstream_gene_variant ESAD-UK 14 100365478 100365478 single base substitution T G intron_variant ESAD-UK 14 100365478 100365478 single base substitution T G upstream_gene_variant ESAD-UK 14 100369687 100369687 single base substitution C T downstream_gene_variant ESAD-UK 14 100369687 100369687 single base substitution C T intron_variant ESAD-UK 14 100369687 100369687 single base substitution C T upstream_gene_variant ESAD-UK 14 100369915 100369915 single base substitution A C downstream_gene_variant ESAD-UK 14 100369915 100369915 single base substitution A C intron_variant ESAD-UK 14 100369915 100369915 single base substitution A C upstream_gene_variant ESAD-UK 14 100375156 100375156 single base substitution A G intron_variant ESAD-UK 14 100375425 100375425 single base substitution G T intron_variant ESAD-UK 14 100375945 100375945 single base substitution C A downstream_gene_variant ESAD-UK 14 100375945 100375945 single base substitution C A intron_variant ESAD-UK 14 100375945 100375945 single base substitution C A upstream_gene_variant ESAD-UK 14 100377622 100377622 single base substitution A T downstream_gene_variant ESAD-UK 14 100377622 100377622 single base substitution A T intron_variant ESAD-UK 14 100377622 100377622 single base substitution A T upstream_gene_variant ESAD-UK 14 100377900 100377900 single base substitution T G downstream_gene_variant ESAD-UK 14 100377900 100377900 single base substitution T G exon_variant ESAD-UK 14 100377900 100377900 single base substitution T G missense_variant L482R 1445T>G ESAD-UK 14 100377900 100377900 single base substitution T G missense_variant L494R 1481T>G ESAD-UK 14 100377900 100377900 single base substitution T G missense_variant L513R 1538T>G ESAD-UK 14 100377900 100377900 single base substitution T G upstream_gene_variant ESAD-UK 14 100377903 100377903 single base substitution G A downstream_gene_variant ESAD-UK 14 100377903 100377903 single base substitution G A exon_variant ESAD-UK 14 100377903 100377903 single base substitution G A missense_variant R483H 1448G>A ESAD-UK 14 100377903 100377903 single base substitution G A missense_variant R495H 1484G>A ESAD-UK 14 100377903 100377903 single base substitution G A missense_variant R514H 1541G>A ESAD-UK 14 100377903 100377903 single base substitution G A upstream_gene_variant ESAD-UK 14 100380540 100380540 single base substitution C T downstream_gene_variant ESAD-UK 14 100380540 100380540 single base substitution C T exon_variant ESAD-UK 14 100380540 100380540 single base substitution C T missense_variant R495W 1483C>T ESAD-UK 14 100380540 100380540 single base substitution C T missense_variant R507W 1519C>T ESAD-UK 14 100380540 100380540 single base substitution C T missense_variant R526W 1576C>T ESAD-UK 14 100380540 100380540 single base substitution C T upstream_gene_variant ESAD-UK 14 100380660 100380660 single base substitution G A downstream_gene_variant ESAD-UK 14 100380660 100380660 single base substitution G A intron_variant ESAD-UK 14 100380660 100380660 single base substitution G A upstream_gene_variant ESAD-UK 14 100380732 100380732 single base substitution C T downstream_gene_variant ESAD-UK 14 100380732 100380732 single base substitution C T intron_variant ESAD-UK 14 100380732 100380732 single base substitution C T upstream_gene_variant ESAD-UK 14 100380826 100380826 single base substitution G A downstream_gene_variant ESAD-UK 14 100380826 100380826 single base substitution G A intron_variant ESAD-UK 14 100380826 100380826 single base substitution G A upstream_gene_variant ESAD-UK 14 100383563 100383563 single base substitution T C downstream_gene_variant ESAD-UK 14 100383563 100383563 single base substitution T C intron_variant ESAD-UK 14 100384757 100384757 single base substitution C A downstream_gene_variant ESAD-UK 14 100384757 100384757 single base substitution C A intron_variant ESAD-UK 14 100385046 100385046 single base substitution G T downstream_gene_variant ESAD-UK 14 100385046 100385046 single base substitution G T intron_variant ESAD-UK 14 100386468 100386468 single base substitution C A downstream_gene_variant ESAD-UK 14 100386468 100386468 single base substitution C A intron_variant ESAD-UK 14 100387179 100387179 single base substitution G A exon_variant ESAD-UK 14 100387179 100387179 single base substitution G A missense_variant G613E 1838G>A ESAD-UK 14 100387179 100387179 single base substitution G A missense_variant G625E 1874G>A ESAD-UK 14 100387179 100387179 single base substitution G A missense_variant G644E 1931G>A ESAD-UK 14 100387921 100387921 single base substitution G A intron_variant ESAD-UK 14 100388723 100388723 single base substitution G T intron_variant ESAD-UK 14 100388742 100388742 single base substitution C T intron_variant ESAD-UK 14 100390781 100390781 single base substitution C T intron_variant ESAD-UK 14 100391006 100391006 single base substitution A G intron_variant ESAD-UK 14 100392151 100392151 single base substitution C T intron_variant ESAD-UK 14 100392447 100392447 single base substitution A G intron_variant ESAD-UK 14 100393062 100393062 single base substitution G A intron_variant ESAD-UK 14 100393214 100393214 single base substitution G T intron_variant ESAD-UK 14 100393530 100393530 deletion of <=200bp A - intron_variant ESAD-UK 14 100393978 100393978 single base substitution C T intron_variant ESAD-UK 14 100395381 100395381 single base substitution G T intron_variant ESAD-UK 14 100395393 100395393 single base substitution C T intron_variant ESAD-UK 14 100395655 100395655 single base substitution G A intron_variant ESAD-UK 14 100397585 100397585 single base substitution C T intron_variant ESAD-UK 14 100397585 100397585 single base substitution C T upstream_gene_variant ESAD-UK 14 100398179 100398179 single base substitution C G intron_variant ESAD-UK 14 100398179 100398179 single base substitution C G upstream_gene_variant ESAD-UK 14 100398506 100398506 single base substitution G T intron_variant ESAD-UK 14 100398506 100398506 single base substitution G T upstream_gene_variant ESAD-UK 14 100400044 100400044 single base substitution T A intron_variant ESAD-UK 14 100400044 100400044 single base substitution T A upstream_gene_variant ESAD-UK 14 100400957 100400957 single base substitution C T intron_variant ESAD-UK 14 100400957 100400957 single base substitution C T upstream_gene_variant ESAD-UK 14 100401767 100401767 single base substitution A G intron_variant ESAD-UK 14 100401767 100401767 single base substitution A G upstream_gene_variant ESAD-UK 14 100401895 100401895 single base substitution C A intron_variant ESAD-UK 14 100401895 100401895 single base substitution C A upstream_gene_variant ESAD-UK 14 100403641 100403641 single base substitution A C intron_variant ESAD-UK 14 100403686 100403686 single base substitution G A intron_variant ESAD-UK 14 100403927 100403927 single base substitution A G intron_variant ESAD-UK 14 100406236 100406236 single base substitution A T downstream_gene_variant ESAD-UK 14 100406236 100406236 single base substitution A T intron_variant ESAD-UK 14 100407251 100407251 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 100407251 100407251 single base substitution G A downstream_gene_variant ESAD-UK 14 100407408 100407408 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 100407408 100407408 single base substitution G A downstream_gene_variant ESAD-UK 14 100408583 100408583 single base substitution G A downstream_gene_variant ESAD-UK 14 100410331 100410331 single base substitution G T downstream_gene_variant ESAD-UK 14 100411292 100411292 single base substitution C T downstream_gene_variant ESAD-UK 14 100412250 100412250 single base substitution A G downstream_gene_variant ESAD-UK 14 100412838 100412838 single base substitution C T downstream_gene_variant ESAD-UK 14 100412969 100412969 single base substitution G C downstream_gene_variant ESCA-CN 14 100331913 100331913 single base substitution A G 3_prime_UTR_variant ESCA-CN 14 100331913 100331913 single base substitution A G exon_variant ESCA-CN 14 100331913 100331913 single base substitution A G missense_variant K105E 313A>G ESCA-CN 14 100331913 100331913 single base substitution A G missense_variant K111E 331A>G ESCA-CN 14 100331913 100331913 single base substitution A G missense_variant K74E 220A>G ESCA-CN 14 100331913 100331913 single base substitution A G missense_variant K86E 256A>G ESCA-CN 14 100331913 100331913 single base substitution A G missense_variant K92E 274A>G ESCA-CN 14 100331913 100331913 single base substitution A G upstream_gene_variant ESCA-CN 14 100384153 100384153 single base substitution G T downstream_gene_variant ESCA-CN 14 100384153 100384153 single base substitution G T missense_variant G584V 1751G>T ESCA-CN 14 100384153 100384153 single base substitution G T missense_variant G596V 1787G>T ESCA-CN 14 100384153 100384153 single base substitution G T missense_variant G615V 1844G>T ESCA-CN 14 100384153 100384153 single base substitution G T splice_region_variant GBM-US 14 100363508 100363508 single base substitution G A exon_variant GBM-US 14 100363508 100363508 single base substitution G A missense_variant R204H 611G>A GBM-US 14 100363508 100363508 single base substitution G A missense_variant R222H 665G>A GBM-US 14 100363508 100363508 single base substitution G A missense_variant R223H 668G>A GBM-US 14 100363508 100363508 single base substitution G A missense_variant R235H 704G>A GBM-US 14 100363508 100363508 single base substitution G A missense_variant R254H 761G>A GBM-US 14 100363508 100363508 single base substitution G A upstream_gene_variant GBM-US 14 100363606 100363606 single base substitution G A exon_variant GBM-US 14 100363606 100363606 single base substitution G A missense_variant A237T 709G>A GBM-US 14 100363606 100363606 single base substitution G A missense_variant A255T 763G>A GBM-US 14 100363606 100363606 single base substitution G A missense_variant A256T 766G>A GBM-US 14 100363606 100363606 single base substitution G A missense_variant A268T 802G>A GBM-US 14 100363606 100363606 single base substitution G A missense_variant A287T 859G>A GBM-US 14 100363606 100363606 single base substitution G A upstream_gene_variant KIRC-US 14 100375765 100375765 single base substitution C A 3_prime_UTR_variant KIRC-US 14 100375765 100375765 single base substitution C A downstream_gene_variant KIRC-US 14 100375765 100375765 single base substitution C A exon_variant KIRC-US 14 100375765 100375765 single base substitution C A stop_gained Y384* 1152C>A KIRC-US 14 100375765 100375765 single base substitution C A stop_gained Y396* 1188C>A KIRC-US 14 100375765 100375765 single base substitution C A stop_gained Y415* 1245C>A KIRC-US 14 100375765 100375765 single base substitution C A stop_gained Y88* 264C>A LAML-KR 14 100219526 100219526 single base substitution A C intron_variant LAML-KR 14 100264747 100264747 single base substitution C T intron_variant LAML-KR 14 100361197 100361197 single base substitution T C intron_variant LAML-KR 14 100361197 100361197 single base substitution T C upstream_gene_variant LAML-KR 14 100366518 100366518 single base substitution C T intron_variant LAML-KR 14 100375707 100375707 single base substitution C T 3_prime_UTR_variant LAML-KR 14 100375707 100375707 single base substitution C T exon_variant LAML-KR 14 100375707 100375707 single base substitution C T missense_variant A364V 1091C>T LAML-KR 14 100375707 100375707 single base substitution C T missense_variant A365V 1094C>T LAML-KR 14 100375707 100375707 single base substitution C T missense_variant A377V 1130C>T LAML-KR 14 100375707 100375707 single base substitution C T missense_variant A396V 1187C>T LAML-KR 14 100375707 100375707 single base substitution C T missense_variant A69V 206C>T LAML-KR 14 100387268 100387268 single base substitution G T intron_variant LAML-KR 14 100387353 100387353 single base substitution A C intron_variant LAML-KR 14 100394154 100394154 single base substitution T G intron_variant LAML-KR 14 100394206 100394206 single base substitution A G intron_variant LAML-KR 14 100399195 100399195 single base substitution C T intron_variant LAML-KR 14 100399195 100399195 single base substitution C T upstream_gene_variant LAML-KR 14 100404067 100404067 single base substitution A G intron_variant LAML-KR 14 100404384 100404384 single base substitution A C intron_variant LGG-US 14 100367314 100367314 single base substitution C G exon_variant LGG-US 14 100367314 100367314 single base substitution C G missense_variant L285V 853C>G LGG-US 14 100367314 100367314 single base substitution C G missense_variant L303V 907C>G LGG-US 14 100367314 100367314 single base substitution C G missense_variant L304V 910C>G LGG-US 14 100367314 100367314 single base substitution C G missense_variant L316V 946C>G LGG-US 14 100367314 100367314 single base substitution C G missense_variant L335V 1003C>G LGG-US 14 100367314 100367314 single base substitution C G missense_variant L40V 118C>G LICA-CN 14 100387171 100387171 single base substitution C T exon_variant LICA-CN 14 100387171 100387171 single base substitution C T synonymous_variant H610H 1830C>T LICA-CN 14 100387171 100387171 single base substitution C T synonymous_variant H622H 1866C>T LICA-CN 14 100387171 100387171 single base substitution C T synonymous_variant H641H 1923C>T LICA-CN 14 100405603 100405603 single base substitution T A downstream_gene_variant LICA-CN 14 100405603 100405603 single base substitution T A exon_variant LICA-CN 14 100405603 100405603 single base substitution T A missense_variant L742Q 2225T>A LICA-CN 14 100405603 100405603 single base substitution T A missense_variant L754Q 2261T>A LICA-CN 14 100405603 100405603 single base substitution T A missense_variant L773Q 2318T>A LICA-FR 14 100199555 100199555 single base substitution A G upstream_gene_variant LICA-FR 14 100227365 100227365 single base substitution G A intron_variant LICA-FR 14 100228262 100228264 deletion of <=200bp AAA - intron_variant LICA-FR 14 100242517 100242517 single base substitution T C intron_variant LICA-FR 14 100246985 100246985 insertion of <=200bp - G intron_variant LICA-FR 14 100275155 100275155 single base substitution T G intron_variant LICA-FR 14 100275155 100275155 single base substitution T G upstream_gene_variant LICA-FR 14 100277978 100277979 deletion of <=200bp AA - intron_variant LICA-FR 14 100316434 100316434 deletion of <=200bp T - intron_variant LICA-FR 14 100316434 100316434 deletion of <=200bp T - upstream_gene_variant LICA-FR 14 100320538 100320538 single base substitution G T intron_variant LICA-FR 14 100348987 100348992 deletion of <=200bp AAAAAA - downstream_gene_variant LICA-FR 14 100348987 100348992 deletion of <=200bp AAAAAA - intron_variant LICA-FR 14 100374034 100374034 single base substitution G A exon_variant LICA-FR 14 100374034 100374034 single base substitution G A intron_variant LICA-FR 14 100374034 100374034 single base substitution G A stop_gained W343* 1029G>A LICA-FR 14 100374034 100374034 single base substitution G A stop_gained W344* 1032G>A LICA-FR 14 100374034 100374034 single base substitution G A stop_gained W356* 1068G>A LICA-FR 14 100374034 100374034 single base substitution G A stop_gained W375* 1125G>A LICA-FR 14 100385774 100385774 single base substitution C G downstream_gene_variant LICA-FR 14 100385774 100385774 single base substitution C G intron_variant LICA-FR 14 100404161 100404161 single base substitution C T 3_prime_UTR_variant LICA-FR 14 100404161 100404161 single base substitution C T exon_variant LICA-FR 14 100404161 100404161 single base substitution C T synonymous_variant P689P 2067C>T LICA-FR 14 100404161 100404161 single base substitution C T synonymous_variant P701P 2103C>T LICA-FR 14 100404161 100404161 single base substitution C T synonymous_variant P720P 2160C>T LICA-FR 14 100405575 100405575 single base substitution G A downstream_gene_variant LICA-FR 14 100405575 100405575 single base substitution G A exon_variant LICA-FR 14 100405575 100405575 single base substitution G A missense_variant V733I 2197G>A LICA-FR 14 100405575 100405575 single base substitution G A missense_variant V745I 2233G>A LICA-FR 14 100405575 100405575 single base substitution G A missense_variant V764I 2290G>A LICA-FR 14 100411566 100411566 deletion of <=200bp A - downstream_gene_variant LIHC-US 14 100361092 100361092 single base substitution G T exon_variant LIHC-US 14 100361092 100361092 single base substitution G T missense_variant W194L 581G>T LIHC-US 14 100361092 100361092 single base substitution G T missense_variant W212L 635G>T LIHC-US 14 100361092 100361092 single base substitution G T missense_variant W213L 638G>T LIHC-US 14 100361092 100361092 single base substitution G T missense_variant W225L 674G>T LIHC-US 14 100361092 100361092 single base substitution G T missense_variant W244L 731G>T LIHC-US 14 100361092 100361092 single base substitution G T upstream_gene_variant LINC-JP 14 100206291 100206291 single base substitution C A intron_variant LINC-JP 14 100209190 100209190 single base substitution C G intron_variant LINC-JP 14 100225179 100225179 single base substitution T C intron_variant LINC-JP 14 100237182 100237182 single base substitution C A intron_variant LINC-JP 14 100237182 100237182 single base substitution C A upstream_gene_variant LINC-JP 14 100245182 100245182 single base substitution T C intron_variant LINC-JP 14 100259865 100259865 single base substitution C A exon_variant LINC-JP 14 100259865 100259865 single base substitution C A intron_variant LINC-JP 14 100259865 100259865 single base substitution C A missense_variant L18I 52C>A LINC-JP 14 100268053 100268053 single base substitution A G intron_variant LINC-JP 14 100306285 100306285 single base substitution G A intron_variant LINC-JP 14 100317109 100317109 single base substitution A G intron_variant LINC-JP 14 100317109 100317109 single base substitution A G upstream_gene_variant LINC-JP 14 100317617 100317617 single base substitution G A intron_variant LINC-JP 14 100330072 100330072 single base substitution A G intron_variant LINC-JP 14 100330072 100330072 single base substitution A G upstream_gene_variant LINC-JP 14 100331157 100331157 single base substitution A G intron_variant LINC-JP 14 100331157 100331157 single base substitution A G upstream_gene_variant LINC-JP 14 100360891 100360891 single base substitution A G exon_variant LINC-JP 14 100360891 100360891 single base substitution A G intron_variant LINC-JP 14 100360891 100360891 single base substitution A G upstream_gene_variant LINC-JP 14 100364536 100364536 single base substitution A G intron_variant LINC-JP 14 100364536 100364536 single base substitution A G upstream_gene_variant LINC-JP 14 100377787 100377787 single base substitution G A downstream_gene_variant LINC-JP 14 100377787 100377787 single base substitution G A exon_variant LINC-JP 14 100377787 100377787 single base substitution G A synonymous_variant Q148Q 444G>A LINC-JP 14 100377787 100377787 single base substitution G A synonymous_variant Q444Q 1332G>A LINC-JP 14 100377787 100377787 single base substitution G A synonymous_variant Q456Q 1368G>A LINC-JP 14 100377787 100377787 single base substitution G A synonymous_variant Q475Q 1425G>A LINC-JP 14 100377787 100377787 single base substitution G A upstream_gene_variant LINC-JP 14 100378600 100378600 single base substitution G A downstream_gene_variant LINC-JP 14 100378600 100378600 single base substitution G A intron_variant LINC-JP 14 100378600 100378600 single base substitution G A upstream_gene_variant LINC-JP 14 100379258 100379258 single base substitution G T downstream_gene_variant LINC-JP 14 100379258 100379258 single base substitution G T intron_variant LINC-JP 14 100379258 100379258 single base substitution G T upstream_gene_variant LINC-JP 14 100387250 100387250 single base substitution A T intron_variant LINC-JP 14 100389085 100389085 single base substitution A G intron_variant LINC-JP 14 100396949 100396949 single base substitution A C intron_variant LINC-JP 14 100410044 100410055 deletion of <=200bp GGGGGGCCGCTG - downstream_gene_variant LIRI-JP 14 100200594 100200594 single base substitution G C upstream_gene_variant LIRI-JP 14 100202571 100202571 single base substitution C A upstream_gene_variant LIRI-JP 14 100202987 100202987 single base substitution C T upstream_gene_variant LIRI-JP 14 100206609 100206609 single base substitution G A intron_variant LIRI-JP 14 100208651 100208651 single base substitution A C intron_variant LIRI-JP 14 100209587 100209587 single base substitution T C intron_variant LIRI-JP 14 100212174 100212174 single base substitution G A intron_variant LIRI-JP 14 100212592 100212592 single base substitution C T intron_variant LIRI-JP 14 100214051 100214051 single base substitution T G intron_variant LIRI-JP 14 100215007 100215007 single base substitution G C intron_variant LIRI-JP 14 100216853 100216853 single base substitution G C intron_variant LIRI-JP 14 100217360 100217360 single base substitution C T intron_variant LIRI-JP 14 100219058 100219058 single base substitution T G intron_variant LIRI-JP 14 100220305 100220305 single base substitution C T intron_variant LIRI-JP 14 100221801 100221801 single base substitution T C intron_variant LIRI-JP 14 100225342 100225342 single base substitution G A intron_variant LIRI-JP 14 100227622 100227622 single base substitution C T intron_variant LIRI-JP 14 100228450 100228450 single base substitution T C intron_variant LIRI-JP 14 100231711 100231711 single base substitution A T intron_variant LIRI-JP 14 100233648 100233648 single base substitution A G intron_variant LIRI-JP 14 100233660 100233660 single base substitution G T intron_variant LIRI-JP 14 100236353 100236353 single base substitution C T intron_variant LIRI-JP 14 100236353 100236353 single base substitution C T upstream_gene_variant LIRI-JP 14 100237078 100237078 single base substitution C T intron_variant LIRI-JP 14 100237078 100237078 single base substitution C T upstream_gene_variant LIRI-JP 14 100237379 100237379 single base substitution C T intron_variant LIRI-JP 14 100237379 100237379 single base substitution C T upstream_gene_variant LIRI-JP 14 100241763 100241763 single base substitution G A intron_variant LIRI-JP 14 100243210 100243210 single base substitution A G intron_variant LIRI-JP 14 100243578 100243578 single base substitution C T intron_variant LIRI-JP 14 100244071 100244071 single base substitution G A intron_variant LIRI-JP 14 100244476 100244476 single base substitution C A intron_variant LIRI-JP 14 100246415 100246415 single base substitution G A intron_variant LIRI-JP 14 100246473 100246473 single base substitution A T intron_variant LIRI-JP 14 100248636 100248636 single base substitution C A intron_variant LIRI-JP 14 100249752 100249752 single base substitution T G intron_variant LIRI-JP 14 100250129 100250129 single base substitution T C intron_variant LIRI-JP 14 100250135 100250135 single base substitution T C intron_variant LIRI-JP 14 100253673 100253673 single base substitution C T intron_variant LIRI-JP 14 100254557 100254557 single base substitution G A intron_variant LIRI-JP 14 100254557 100254557 single base substitution G A upstream_gene_variant LIRI-JP 14 100254889 100254889 single base substitution T C intron_variant LIRI-JP 14 100254889 100254889 single base substitution T C upstream_gene_variant LIRI-JP 14 100254912 100254912 single base substitution T C intron_variant LIRI-JP 14 100254912 100254912 single base substitution T C upstream_gene_variant LIRI-JP 14 100255926 100255926 deletion of <=200bp T - intron_variant LIRI-JP 14 100255926 100255926 deletion of <=200bp T - upstream_gene_variant LIRI-JP 14 100256444 100256444 single base substitution G A intron_variant LIRI-JP 14 100256444 100256444 single base substitution G A upstream_gene_variant LIRI-JP 14 100260847 100260847 single base substitution A G intron_variant LIRI-JP 14 100261574 100261574 single base substitution C A intron_variant LIRI-JP 14 100261748 100261748 single base substitution A G intron_variant LIRI-JP 14 100262413 100262413 single base substitution A G intron_variant LIRI-JP 14 100262603 100262603 single base substitution A G intron_variant LIRI-JP 14 100263822 100263822 single base substitution A G intron_variant LIRI-JP 14 100266842 100266842 single base substitution G T intron_variant LIRI-JP 14 100269628 100269628 single base substitution C T intron_variant LIRI-JP 14 100271851 100271851 single base substitution G A intron_variant LIRI-JP 14 100271851 100271851 single base substitution G A upstream_gene_variant LIRI-JP 14 100272081 100272081 single base substitution G T intron_variant LIRI-JP 14 100272081 100272081 single base substitution G T upstream_gene_variant LIRI-JP 14 100272854 100272854 single base substitution T C intron_variant LIRI-JP 14 100272854 100272854 single base substitution T C upstream_gene_variant LIRI-JP 14 100273473 100273473 single base substitution G A intron_variant LIRI-JP 14 100273473 100273473 single base substitution G A upstream_gene_variant LIRI-JP 14 100273626 100273626 single base substitution G T intron_variant LIRI-JP 14 100273626 100273626 single base substitution G T upstream_gene_variant LIRI-JP 14 100274915 100274915 single base substitution T C intron_variant LIRI-JP 14 100274915 100274915 single base substitution T C upstream_gene_variant LIRI-JP 14 100279818 100279818 single base substitution G A intron_variant LIRI-JP 14 100280078 100280078 single base substitution A G intron_variant LIRI-JP 14 100280812 100280812 single base substitution G A intron_variant LIRI-JP 14 100281222 100281222 single base substitution T G intron_variant LIRI-JP 14 100281668 100281668 single base substitution C T intron_variant LIRI-JP 14 100282506 100282506 single base substitution T C intron_variant LIRI-JP 14 100283836 100283836 single base substitution C T intron_variant LIRI-JP 14 100289191 100289191 single base substitution A G intron_variant LIRI-JP 14 100290098 100290098 single base substitution T C intron_variant LIRI-JP 14 100291749 100291749 single base substitution C A intron_variant LIRI-JP 14 100292412 100292412 single base substitution T G intron_variant LIRI-JP 14 100296221 100296221 single base substitution C T intron_variant LIRI-JP 14 100296870 100296870 single base substitution A G intron_variant LIRI-JP 14 100299090 100299090 single base substitution T G intron_variant LIRI-JP 14 100300613 100300613 single base substitution G A intron_variant LIRI-JP 14 100300613 100300613 single base substitution G A upstream_gene_variant LIRI-JP 14 100302659 100302659 single base substitution C A intron_variant LIRI-JP 14 100302659 100302659 single base substitution C A upstream_gene_variant LIRI-JP 14 100303221 100303221 single base substitution C A intron_variant LIRI-JP 14 100303221 100303221 single base substitution C A upstream_gene_variant LIRI-JP 14 100305259 100305259 single base substitution T C intron_variant LIRI-JP 14 100305259 100305259 single base substitution T C upstream_gene_variant LIRI-JP 14 100306441 100306441 single base substitution G T intron_variant LIRI-JP 14 100307909 100307909 single base substitution A G intron_variant LIRI-JP 14 100308700 100308700 single base substitution A G intron_variant LIRI-JP 14 100314348 100314348 single base substitution T C intron_variant LIRI-JP 14 100314348 100314348 single base substitution T C upstream_gene_variant LIRI-JP 14 100314631 100314631 single base substitution C A intron_variant LIRI-JP 14 100314631 100314631 single base substitution C A upstream_gene_variant LIRI-JP 14 100317118 100317118 single base substitution T C intron_variant LIRI-JP 14 100317118 100317118 single base substitution T C upstream_gene_variant LIRI-JP 14 100317152 100317152 single base substitution G C intron_variant LIRI-JP 14 100317152 100317152 single base substitution G C upstream_gene_variant LIRI-JP 14 100318468 100318468 single base substitution A G intron_variant LIRI-JP 14 100325904 100325904 single base substitution T G intron_variant LIRI-JP 14 100326852 100326852 single base substitution T C intron_variant LIRI-JP 14 100334771 100334771 single base substitution T C downstream_gene_variant LIRI-JP 14 100334771 100334771 single base substitution T C intron_variant LIRI-JP 14 100334777 100334777 single base substitution C T downstream_gene_variant LIRI-JP 14 100334777 100334777 single base substitution C T intron_variant LIRI-JP 14 100334808 100334808 single base substitution T A downstream_gene_variant LIRI-JP 14 100334808 100334808 single base substitution T A intron_variant LIRI-JP 14 100334830 100334830 single base substitution A T downstream_gene_variant LIRI-JP 14 100334830 100334830 single base substitution A T intron_variant LIRI-JP 14 100336893 100336893 single base substitution C T downstream_gene_variant LIRI-JP 14 100336893 100336893 single base substitution C T intron_variant LIRI-JP 14 100338177 100338177 single base substitution A G intron_variant LIRI-JP 14 100338968 100338968 single base substitution T A intron_variant LIRI-JP 14 100338969 100338969 single base substitution G T intron_variant LIRI-JP 14 100341146 100341146 single base substitution A G intron_variant LIRI-JP 14 100341393 100341393 single base substitution G A intron_variant LIRI-JP 14 100342915 100342915 single base substitution G A intron_variant LIRI-JP 14 100342991 100342991 single base substitution G T intron_variant LIRI-JP 14 100343108 100343108 single base substitution T C intron_variant LIRI-JP 14 100343515 100343515 single base substitution A G intron_variant LIRI-JP 14 100345158 100345158 single base substitution C G downstream_gene_variant LIRI-JP 14 100345158 100345158 single base substitution C G intron_variant LIRI-JP 14 100347318 100347318 single base substitution G A downstream_gene_variant LIRI-JP 14 100347318 100347318 single base substitution G A intron_variant LIRI-JP 14 100347592 100347592 single base substitution A T downstream_gene_variant LIRI-JP 14 100347592 100347592 single base substitution A T intron_variant LIRI-JP 14 100348248 100348248 single base substitution T G downstream_gene_variant LIRI-JP 14 100348248 100348248 single base substitution T G intron_variant LIRI-JP 14 100350659 100350659 single base substitution A G downstream_gene_variant LIRI-JP 14 100350659 100350659 single base substitution A G intron_variant LIRI-JP 14 100350946 100350946 single base substitution C T downstream_gene_variant LIRI-JP 14 100350946 100350946 single base substitution C T intron_variant LIRI-JP 14 100351075 100351075 single base substitution A G downstream_gene_variant LIRI-JP 14 100351075 100351075 single base substitution A G intron_variant LIRI-JP 14 100351489 100351489 single base substitution T C downstream_gene_variant LIRI-JP 14 100351489 100351489 single base substitution T C intron_variant LIRI-JP 14 100355119 100355119 single base substitution C T downstream_gene_variant LIRI-JP 14 100355119 100355119 single base substitution C T intron_variant LIRI-JP 14 100357779 100357781 deletion of <=200bp CTA - intron_variant LIRI-JP 14 100357779 100357781 deletion of <=200bp CTA - upstream_gene_variant LIRI-JP 14 100359324 100359324 insertion of <=200bp - TGGTTGTGG intron_variant LIRI-JP 14 100359324 100359324 insertion of <=200bp - TGGTTGTGG upstream_gene_variant LIRI-JP 14 100359660 100359660 single base substitution A G intron_variant LIRI-JP 14 100359660 100359660 single base substitution A G upstream_gene_variant LIRI-JP 14 100361108 100361108 single base substitution C T intron_variant LIRI-JP 14 100361108 100361108 single base substitution C T upstream_gene_variant LIRI-JP 14 100363423 100363423 single base substitution A G intron_variant LIRI-JP 14 100363423 100363423 single base substitution A G upstream_gene_variant LIRI-JP 14 100363450 100363450 single base substitution G A intron_variant LIRI-JP 14 100363450 100363450 single base substitution G A upstream_gene_variant LIRI-JP 14 100363882 100363882 single base substitution T C intron_variant LIRI-JP 14 100363882 100363882 single base substitution T C upstream_gene_variant LIRI-JP 14 100365716 100365716 single base substitution A G intron_variant LIRI-JP 14 100365716 100365716 single base substitution A G upstream_gene_variant LIRI-JP 14 100365881 100365881 single base substitution T A intron_variant LIRI-JP 14 100369322 100369322 single base substitution C A downstream_gene_variant LIRI-JP 14 100369322 100369322 single base substitution C A intron_variant LIRI-JP 14 100369322 100369322 single base substitution C A upstream_gene_variant LIRI-JP 14 100370237 100370237 single base substitution C T downstream_gene_variant LIRI-JP 14 100370237 100370237 single base substitution C T intron_variant LIRI-JP 14 100370237 100370237 single base substitution C T upstream_gene_variant LIRI-JP 14 100370271 100370271 single base substitution C T downstream_gene_variant LIRI-JP 14 100370271 100370271 single base substitution C T intron_variant LIRI-JP 14 100370271 100370271 single base substitution C T upstream_gene_variant LIRI-JP 14 100372589 100372589 single base substitution G A intron_variant LIRI-JP 14 100372589 100372589 single base substitution G A upstream_gene_variant LIRI-JP 14 100372934 100372934 single base substitution T A intron_variant LIRI-JP 14 100372934 100372934 single base substitution T A upstream_gene_variant LIRI-JP 14 100379537 100379540 deletion of <=200bp CAGA - downstream_gene_variant LIRI-JP 14 100379537 100379540 deletion of <=200bp CAGA - intron_variant LIRI-JP 14 100379537 100379540 deletion of <=200bp CAGA - upstream_gene_variant LIRI-JP 14 100380051 100380051 single base substitution A G downstream_gene_variant LIRI-JP 14 100380051 100380051 single base substitution A G intron_variant LIRI-JP 14 100380051 100380051 single base substitution A G upstream_gene_variant LIRI-JP 14 100381191 100381192 deletion of <=200bp AG - downstream_gene_variant LIRI-JP 14 100381191 100381192 deletion of <=200bp AG - exon_variant LIRI-JP 14 100381191 100381192 deletion of <=200bp AG - intron_variant LIRI-JP 14 100382353 100382353 single base substitution C T downstream_gene_variant LIRI-JP 14 100382353 100382353 single base substitution C T intron_variant LIRI-JP 14 100382381 100382381 single base substitution A G downstream_gene_variant LIRI-JP 14 100382381 100382381 single base substitution A G intron_variant LIRI-JP 14 100390825 100390825 single base substitution A G intron_variant LIRI-JP 14 100394922 100394922 single base substitution A T intron_variant LIRI-JP 14 100394923 100394923 single base substitution C A intron_variant LIRI-JP 14 100396828 100396828 single base substitution C T intron_variant LIRI-JP 14 100401041 100401041 deletion of <=200bp C - intron_variant LIRI-JP 14 100401041 100401041 deletion of <=200bp C - upstream_gene_variant LIRI-JP 14 100401910 100401910 single base substitution C T intron_variant LIRI-JP 14 100401910 100401910 single base substitution C T upstream_gene_variant LIRI-JP 14 100405048 100405048 single base substitution G A intron_variant LIRI-JP 14 100407844 100407844 single base substitution A G 3_prime_UTR_variant LIRI-JP 14 100407844 100407844 single base substitution A G downstream_gene_variant LUSC-KR 14 100200117 100200117 single base substitution A G upstream_gene_variant LUSC-KR 14 100205443 100205443 single base substitution G C intron_variant LUSC-KR 14 100209114 100209114 single base substitution G A intron_variant LUSC-KR 14 100209819 100209819 single base substitution C T intron_variant LUSC-KR 14 100214676 100214676 single base substitution G T intron_variant LUSC-KR 14 100215142 100215142 single base substitution G C intron_variant LUSC-KR 14 100215311 100215311 single base substitution G T intron_variant LUSC-KR 14 100222739 100222739 single base substitution G C intron_variant LUSC-KR 14 100229884 100229884 single base substitution G A intron_variant LUSC-KR 14 100230085 100230085 single base substitution C G intron_variant LUSC-KR 14 100231039 100231039 single base substitution A T intron_variant LUSC-KR 14 100232524 100232524 single base substitution A T intron_variant LUSC-KR 14 100234579 100234579 single base substitution C G intron_variant LUSC-KR 14 100234579 100234579 single base substitution C G upstream_gene_variant LUSC-KR 14 100234792 100234792 single base substitution G C intron_variant LUSC-KR 14 100234792 100234792 single base substitution G C upstream_gene_variant LUSC-KR 14 100242219 100242219 single base substitution C A intron_variant LUSC-KR 14 100242442 100242442 single base substitution C A intron_variant LUSC-KR 14 100243724 100243724 single base substitution T C intron_variant LUSC-KR 14 100244177 100244177 single base substitution G T intron_variant LUSC-KR 14 100244826 100244826 single base substitution A G intron_variant LUSC-KR 14 100247523 100247523 single base substitution T C intron_variant LUSC-KR 14 100248200 100248200 single base substitution T C intron_variant LUSC-KR 14 100253576 100253576 single base substitution T C intron_variant LUSC-KR 14 100259301 100259301 single base substitution G T intron_variant LUSC-KR 14 100259301 100259301 single base substitution G T upstream_gene_variant LUSC-KR 14 100261440 100261440 single base substitution G T intron_variant LUSC-KR 14 100269447 100269447 single base substitution G T intron_variant LUSC-KR 14 100270212 100270212 single base substitution A T intron_variant LUSC-KR 14 100289211 100289211 single base substitution G C intron_variant LUSC-KR 14 100289478 100289478 single base substitution G T intron_variant LUSC-KR 14 100300658 100300658 single base substitution G T intron_variant LUSC-KR 14 100300658 100300658 single base substitution G T upstream_gene_variant LUSC-KR 14 100305226 100305226 single base substitution C T intron_variant LUSC-KR 14 100305226 100305226 single base substitution C T upstream_gene_variant LUSC-KR 14 100312376 100312376 single base substitution G T intron_variant LUSC-KR 14 100312376 100312376 single base substitution G T upstream_gene_variant LUSC-KR 14 100313138 100313138 single base substitution G C intron_variant LUSC-KR 14 100313138 100313138 single base substitution G C upstream_gene_variant LUSC-KR 14 100317376 100317376 single base substitution G A intron_variant LUSC-KR 14 100317376 100317376 single base substitution G A splice_region_variant LUSC-KR 14 100317472 100317472 single base substitution G A intron_variant LUSC-KR 14 100317792 100317792 single base substitution C T intron_variant LUSC-KR 14 100331876 100331876 single base substitution T C 3_prime_UTR_variant LUSC-KR 14 100331876 100331876 single base substitution T C exon_variant LUSC-KR 14 100331876 100331876 single base substitution T C synonymous_variant P61P 183T>C LUSC-KR 14 100331876 100331876 single base substitution T C synonymous_variant P73P 219T>C LUSC-KR 14 100331876 100331876 single base substitution T C synonymous_variant P79P 237T>C LUSC-KR 14 100331876 100331876 single base substitution T C synonymous_variant P92P 276T>C LUSC-KR 14 100331876 100331876 single base substitution T C synonymous_variant P98P 294T>C LUSC-KR 14 100331876 100331876 single base substitution T C upstream_gene_variant LUSC-KR 14 100336630 100336630 single base substitution G T downstream_gene_variant LUSC-KR 14 100336630 100336630 single base substitution G T intron_variant LUSC-KR 14 100337890 100337890 single base substitution G A intron_variant LUSC-KR 14 100341879 100341879 single base substitution C G intron_variant LUSC-KR 14 100343762 100343762 single base substitution G A intron_variant LUSC-KR 14 100347629 100347629 single base substitution C T downstream_gene_variant LUSC-KR 14 100347629 100347629 single base substitution C T intron_variant LUSC-KR 14 100353260 100353260 single base substitution G A downstream_gene_variant LUSC-KR 14 100353260 100353260 single base substitution G A intron_variant LUSC-KR 14 100354130 100354130 single base substitution C T downstream_gene_variant LUSC-KR 14 100354130 100354130 single base substitution C T intron_variant LUSC-KR 14 100355723 100355723 single base substitution G T downstream_gene_variant LUSC-KR 14 100355723 100355723 single base substitution G T intron_variant LUSC-KR 14 100361888 100361888 single base substitution T C intron_variant LUSC-KR 14 100361888 100361888 single base substitution T C upstream_gene_variant LUSC-KR 14 100363336 100363336 single base substitution T C intron_variant LUSC-KR 14 100363336 100363336 single base substitution T C upstream_gene_variant LUSC-KR 14 100364403 100364403 single base substitution T C intron_variant LUSC-KR 14 100364403 100364403 single base substitution T C upstream_gene_variant LUSC-KR 14 100364719 100364719 single base substitution T G intron_variant LUSC-KR 14 100364719 100364719 single base substitution T G upstream_gene_variant LUSC-KR 14 100374811 100374811 single base substitution A C intron_variant LUSC-KR 14 100375583 100375583 single base substitution T C intron_variant LUSC-KR 14 100378700 100378700 single base substitution C T downstream_gene_variant LUSC-KR 14 100378700 100378700 single base substitution C T intron_variant LUSC-KR 14 100378700 100378700 single base substitution C T upstream_gene_variant LUSC-KR 14 100378712 100378712 single base substitution G C downstream_gene_variant LUSC-KR 14 100378712 100378712 single base substitution G C intron_variant LUSC-KR 14 100378712 100378712 single base substitution G C upstream_gene_variant LUSC-KR 14 100380242 100380242 single base substitution G T downstream_gene_variant LUSC-KR 14 100380242 100380242 single base substitution G T intron_variant LUSC-KR 14 100380242 100380242 single base substitution G T upstream_gene_variant LUSC-KR 14 100380948 100380948 single base substitution T C downstream_gene_variant LUSC-KR 14 100380948 100380948 single base substitution T C exon_variant LUSC-KR 14 100380948 100380948 single base substitution T C missense_variant S544P 1630T>C LUSC-KR 14 100380948 100380948 single base substitution T C missense_variant S556P 1666T>C LUSC-KR 14 100380948 100380948 single base substitution T C missense_variant S575P 1723T>C LUSC-KR 14 100393945 100393945 single base substitution G T intron_variant LUSC-KR 14 100397576 100397576 single base substitution G A intron_variant LUSC-KR 14 100397576 100397576 single base substitution G A upstream_gene_variant LUSC-KR 14 100397790 100397790 single base substitution A T intron_variant LUSC-KR 14 100397790 100397790 single base substitution A T upstream_gene_variant LUSC-KR 14 100398097 100398097 single base substitution G A intron_variant LUSC-KR 14 100398097 100398097 single base substitution G A upstream_gene_variant LUSC-KR 14 100401801 100401801 single base substitution C G intron_variant LUSC-KR 14 100401801 100401801 single base substitution C G upstream_gene_variant LUSC-KR 14 100402815 100402815 single base substitution G A intron_variant LUSC-KR 14 100402828 100402828 single base substitution G T intron_variant LUSC-KR 14 100404351 100404351 single base substitution T C intron_variant LUSC-KR 14 100404427 100404427 single base substitution G T intron_variant LUSC-US 14 100331948 100331948 single base substitution G T 3_prime_UTR_variant LUSC-US 14 100331948 100331948 single base substitution G T downstream_gene_variant LUSC-US 14 100331948 100331948 single base substitution G T exon_variant LUSC-US 14 100331948 100331948 single base substitution G T synonymous_variant G103G 309G>T LUSC-US 14 100331948 100331948 single base substitution G T synonymous_variant G116G 348G>T LUSC-US 14 100331948 100331948 single base substitution G T synonymous_variant G122G 366G>T LUSC-US 14 100331948 100331948 single base substitution G T synonymous_variant G1G 3G>T LUSC-US 14 100331948 100331948 single base substitution G T synonymous_variant G85G 255G>T LUSC-US 14 100344847 100344847 single base substitution G A 3_prime_UTR_variant LUSC-US 14 100344847 100344847 single base substitution G A exon_variant LUSC-US 14 100344847 100344847 single base substitution G A missense_variant E106K 316G>A LUSC-US 14 100344847 100344847 single base substitution G A missense_variant E124K 370G>A LUSC-US 14 100344847 100344847 single base substitution G A missense_variant E125K 373G>A LUSC-US 14 100344847 100344847 single base substitution G A missense_variant E137K 409G>A LUSC-US 14 100344847 100344847 single base substitution G A missense_variant E143K 427G>A LUSC-US 14 100344847 100344847 single base substitution G A missense_variant E156K 466G>A LUSC-US 14 100344847 100344847 single base substitution G A missense_variant E22K 64G>A LUSC-US 14 100375748 100375748 single base substitution G T 3_prime_UTR_variant LUSC-US 14 100375748 100375748 single base substitution G T exon_variant LUSC-US 14 100375748 100375748 single base substitution G T stop_gained G378* 1132G>T LUSC-US 14 100375748 100375748 single base substitution G T stop_gained G379* 1135G>T LUSC-US 14 100375748 100375748 single base substitution G T stop_gained G391* 1171G>T LUSC-US 14 100375748 100375748 single base substitution G T stop_gained G410* 1228G>T LUSC-US 14 100375748 100375748 single base substitution G T stop_gained G83* 247G>T LUSC-US 14 100405640 100405640 single base substitution C G downstream_gene_variant LUSC-US 14 100405640 100405640 single base substitution C G exon_variant LUSC-US 14 100405640 100405640 single base substitution C G missense_variant F754L 2262C>G LUSC-US 14 100405640 100405640 single base substitution C G missense_variant F766L 2298C>G LUSC-US 14 100405640 100405640 single base substitution C G missense_variant F785L 2355C>G MALY-DE 14 100201320 100201320 single base substitution C T upstream_gene_variant MALY-DE 14 100201646 100201646 single base substitution A G upstream_gene_variant MALY-DE 14 100202847 100202847 single base substitution A C upstream_gene_variant MALY-DE 14 100203461 100203461 single base substitution C T upstream_gene_variant MALY-DE 14 100209438 100209438 single base substitution G A intron_variant MALY-DE 14 100224905 100224905 single base substitution T G intron_variant MALY-DE 14 100231266 100231266 single base substitution T G intron_variant MALY-DE 14 100232067 100232067 single base substitution G A intron_variant MALY-DE 14 100236542 100236542 single base substitution T C intron_variant MALY-DE 14 100236542 100236542 single base substitution T C upstream_gene_variant MALY-DE 14 100240331 100240331 single base substitution T A 5_prime_UTR_variant MALY-DE 14 100240331 100240331 single base substitution T A intron_variant MALY-DE 14 100248600 100248600 single base substitution T C intron_variant MALY-DE 14 100253002 100253002 single base substitution G A intron_variant MALY-DE 14 100253359 100253359 single base substitution T A intron_variant MALY-DE 14 100253664 100253664 single base substitution C T intron_variant MALY-DE 14 100263737 100263737 single base substitution C T intron_variant MALY-DE 14 100264243 100264243 single base substitution G T intron_variant MALY-DE 14 100266679 100266679 deletion of <=200bp T - intron_variant MALY-DE 14 100272746 100272746 single base substitution C T intron_variant MALY-DE 14 100272746 100272746 single base substitution C T upstream_gene_variant MALY-DE 14 100273352 100273352 deletion of <=200bp T - intron_variant MALY-DE 14 100273352 100273352 deletion of <=200bp T - upstream_gene_variant MALY-DE 14 100273480 100273480 single base substitution C T intron_variant MALY-DE 14 100273480 100273480 single base substitution C T upstream_gene_variant MALY-DE 14 100274334 100274334 single base substitution G A intron_variant MALY-DE 14 100274334 100274334 single base substitution G A upstream_gene_variant MALY-DE 14 100278874 100278874 single base substitution C T intron_variant MALY-DE 14 100280587 100280587 single base substitution G A intron_variant MALY-DE 14 100282985 100282985 single base substitution A G intron_variant MALY-DE 14 100284454 100284454 deletion of <=200bp G - intron_variant MALY-DE 14 100285256 100285256 single base substitution G A intron_variant MALY-DE 14 100287463 100287463 single base substitution G A intron_variant MALY-DE 14 100289571 100289571 single base substitution C T intron_variant MALY-DE 14 100296502 100296502 single base substitution A T intron_variant MALY-DE 14 100307116 100307116 single base substitution A C intron_variant MALY-DE 14 100314337 100314337 single base substitution T C intron_variant MALY-DE 14 100314337 100314337 single base substitution T C upstream_gene_variant MALY-DE 14 100317525 100317525 single base substitution C T intron_variant MALY-DE 14 100317880 100317880 single base substitution G A intron_variant MALY-DE 14 100323614 100323614 single base substitution A T intron_variant MALY-DE 14 100324018 100324018 single base substitution G T intron_variant MALY-DE 14 100331442 100331442 single base substitution T A intron_variant MALY-DE 14 100331442 100331442 single base substitution T A upstream_gene_variant MALY-DE 14 100337302 100337302 deletion of <=200bp T - intron_variant MALY-DE 14 100342808 100342808 single base substitution C A intron_variant MALY-DE 14 100347688 100347688 single base substitution T G downstream_gene_variant MALY-DE 14 100347688 100347688 single base substitution T G intron_variant MALY-DE 14 100347854 100347854 single base substitution G A downstream_gene_variant MALY-DE 14 100347854 100347854 single base substitution G A intron_variant MALY-DE 14 100359501 100359501 single base substitution A T intron_variant MALY-DE 14 100359501 100359501 single base substitution A T upstream_gene_variant MALY-DE 14 100364829 100364829 single base substitution C A intron_variant MALY-DE 14 100364829 100364829 single base substitution C A upstream_gene_variant MALY-DE 14 100365495 100365495 single base substitution T A intron_variant MALY-DE 14 100365495 100365495 single base substitution T A upstream_gene_variant MALY-DE 14 100369166 100369166 deletion of <=200bp T - downstream_gene_variant MALY-DE 14 100369166 100369166 deletion of <=200bp T - intron_variant MALY-DE 14 100369166 100369166 deletion of <=200bp T - upstream_gene_variant MALY-DE 14 100377539 100377539 single base substitution G A downstream_gene_variant MALY-DE 14 100377539 100377539 single base substitution G A intron_variant MALY-DE 14 100377539 100377539 single base substitution G A upstream_gene_variant MALY-DE 14 100377863 100377863 single base substitution C T downstream_gene_variant MALY-DE 14 100377863 100377863 single base substitution C T exon_variant MALY-DE 14 100377863 100377863 single base substitution C T stop_gained R174* 520C>T MALY-DE 14 100377863 100377863 single base substitution C T stop_gained R470* 1408C>T MALY-DE 14 100377863 100377863 single base substitution C T stop_gained R482* 1444C>T MALY-DE 14 100377863 100377863 single base substitution C T stop_gained R501* 1501C>T MALY-DE 14 100377863 100377863 single base substitution C T upstream_gene_variant MALY-DE 14 100379502 100379502 insertion of <=200bp - TTA downstream_gene_variant MALY-DE 14 100379502 100379502 insertion of <=200bp - TTA intron_variant MALY-DE 14 100379502 100379502 insertion of <=200bp - TTA upstream_gene_variant MALY-DE 14 100380561 100380561 single base substitution G A downstream_gene_variant MALY-DE 14 100380561 100380561 single base substitution G A exon_variant MALY-DE 14 100380561 100380561 single base substitution G A missense_variant G502S 1504G>A MALY-DE 14 100380561 100380561 single base substitution G A missense_variant G514S 1540G>A MALY-DE 14 100380561 100380561 single base substitution G A missense_variant G533S 1597G>A MALY-DE 14 100380561 100380561 single base substitution G A upstream_gene_variant MALY-DE 14 100397164 100397164 single base substitution T G intron_variant MALY-DE 14 100412834 100412834 single base substitution G A downstream_gene_variant MELA-AU 14 100199177 100199177 single base substitution G A upstream_gene_variant MELA-AU 14 100199283 100199283 single base substitution C T upstream_gene_variant MELA-AU 14 100199299 100199299 single base substitution C T upstream_gene_variant MELA-AU 14 100199577 100199577 single base substitution C T upstream_gene_variant MELA-AU 14 100199779 100199779 single base substitution C T upstream_gene_variant MELA-AU 14 100200391 100200391 single base substitution G A upstream_gene_variant MELA-AU 14 100200644 100200644 single base substitution C T upstream_gene_variant MELA-AU 14 100200656 100200656 single base substitution C T upstream_gene_variant MELA-AU 14 100200662 100200662 single base substitution G A upstream_gene_variant MELA-AU 14 100200812 100200812 single base substitution G A upstream_gene_variant MELA-AU 14 100200825 100200825 insertion of <=200bp - C upstream_gene_variant MELA-AU 14 100200872 100200872 single base substitution T C upstream_gene_variant MELA-AU 14 100200873 100200873 single base substitution C T upstream_gene_variant MELA-AU 14 100201222 100201222 single base substitution T C upstream_gene_variant MELA-AU 14 100201554 100201554 single base substitution C T upstream_gene_variant MELA-AU 14 100201629 100201629 single base substitution C T upstream_gene_variant MELA-AU 14 100201690 100201690 single base substitution G A upstream_gene_variant MELA-AU 14 100201948 100201948 single base substitution C T upstream_gene_variant MELA-AU 14 100202077 100202077 single base substitution G A upstream_gene_variant MELA-AU 14 100202439 100202439 single base substitution C T upstream_gene_variant MELA-AU 14 100202531 100202533 multiple base substitution (>=2bp and <=200bp) TTG CCT upstream_gene_variant MELA-AU 14 100203097 100203097 single base substitution C A upstream_gene_variant MELA-AU 14 100203189 100203189 single base substitution T C upstream_gene_variant MELA-AU 14 100203226 100203226 single base substitution G A upstream_gene_variant MELA-AU 14 100203255 100203255 single base substitution C T upstream_gene_variant MELA-AU 14 100203460 100203460 single base substitution C G upstream_gene_variant MELA-AU 14 100203462 100203462 single base substitution C T upstream_gene_variant MELA-AU 14 100203548 100203548 single base substitution G A upstream_gene_variant MELA-AU 14 100203870 100203870 single base substitution G A upstream_gene_variant MELA-AU 14 100203946 100203946 single base substitution G A upstream_gene_variant MELA-AU 14 100203947 100203947 single base substitution G A upstream_gene_variant MELA-AU 14 100204577 100204577 single base substitution G A intron_variant MELA-AU 14 100204581 100204581 single base substitution G A intron_variant MELA-AU 14 100205027 100205027 single base substitution G A intron_variant MELA-AU 14 100205264 100205264 single base substitution G A intron_variant MELA-AU 14 100205426 100205426 single base substitution T A intron_variant MELA-AU 14 100205528 100205528 single base substitution C T intron_variant MELA-AU 14 100205580 100205580 single base substitution G A intron_variant MELA-AU 14 100205885 100205885 single base substitution G A intron_variant MELA-AU 14 100206124 100206124 single base substitution G C intron_variant MELA-AU 14 100206518 100206519 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100206586 100206587 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100206587 100206587 single base substitution C T intron_variant MELA-AU 14 100206615 100206615 single base substitution G A intron_variant MELA-AU 14 100206625 100206625 single base substitution C T intron_variant MELA-AU 14 100207056 100207056 single base substitution G A intron_variant MELA-AU 14 100207258 100207258 single base substitution C T intron_variant MELA-AU 14 100207332 100207332 single base substitution C T intron_variant MELA-AU 14 100207473 100207473 single base substitution C A intron_variant MELA-AU 14 100207654 100207654 single base substitution G A intron_variant MELA-AU 14 100207765 100207765 single base substitution A G intron_variant MELA-AU 14 100207896 100207896 single base substitution C T intron_variant MELA-AU 14 100207998 100207998 single base substitution C T intron_variant MELA-AU 14 100208115 100208115 single base substitution C T intron_variant MELA-AU 14 100208126 100208126 single base substitution C T intron_variant MELA-AU 14 100208168 100208168 single base substitution C T intron_variant MELA-AU 14 100208218 100208218 single base substitution G A intron_variant MELA-AU 14 100208240 100208240 single base substitution G A intron_variant MELA-AU 14 100208252 100208252 single base substitution C T intron_variant MELA-AU 14 100208425 100208425 single base substitution G A intron_variant MELA-AU 14 100208526 100208526 single base substitution C A intron_variant MELA-AU 14 100208541 100208541 single base substitution G A intron_variant MELA-AU 14 100208717 100208717 single base substitution G A intron_variant MELA-AU 14 100208774 100208774 single base substitution G A intron_variant MELA-AU 14 100208974 100208974 single base substitution T C intron_variant MELA-AU 14 100209106 100209106 single base substitution C T intron_variant MELA-AU 14 100209112 100209112 single base substitution G A intron_variant MELA-AU 14 100209182 100209182 single base substitution G A intron_variant MELA-AU 14 100209224 100209224 single base substitution G A intron_variant MELA-AU 14 100209444 100209444 single base substitution C T intron_variant MELA-AU 14 100209469 100209469 single base substitution G A intron_variant MELA-AU 14 100209478 100209478 single base substitution G A intron_variant MELA-AU 14 100209551 100209552 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100210087 100210087 single base substitution C T intron_variant MELA-AU 14 100210129 100210130 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100210408 100210408 single base substitution C T intron_variant MELA-AU 14 100210601 100210601 single base substitution C T intron_variant MELA-AU 14 100210762 100210762 single base substitution C T intron_variant MELA-AU 14 100210869 100210869 single base substitution C T intron_variant MELA-AU 14 100211270 100211270 single base substitution G A intron_variant MELA-AU 14 100211328 100211328 single base substitution C T intron_variant MELA-AU 14 100211497 100211497 single base substitution G A intron_variant MELA-AU 14 100211599 100211599 single base substitution C T intron_variant MELA-AU 14 100211988 100211988 single base substitution C T intron_variant MELA-AU 14 100212693 100212694 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100212830 100212830 single base substitution C T intron_variant MELA-AU 14 100213162 100213162 single base substitution C T intron_variant MELA-AU 14 100213545 100213545 single base substitution G A intron_variant MELA-AU 14 100214321 100214321 single base substitution C T intron_variant MELA-AU 14 100214563 100214563 single base substitution C T intron_variant MELA-AU 14 100214666 100214666 single base substitution T C intron_variant MELA-AU 14 100214885 100214885 single base substitution C T intron_variant MELA-AU 14 100215703 100215703 single base substitution G A intron_variant MELA-AU 14 100216239 100216239 single base substitution C T intron_variant MELA-AU 14 100216457 100216458 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100216464 100216464 single base substitution G A intron_variant MELA-AU 14 100216464 100216464 single base substitution G T intron_variant MELA-AU 14 100216793 100216793 single base substitution C T intron_variant MELA-AU 14 100216929 100216929 single base substitution G A intron_variant MELA-AU 14 100216961 100216961 single base substitution G A intron_variant MELA-AU 14 100217017 100217017 single base substitution T G intron_variant MELA-AU 14 100217053 100217053 single base substitution G A intron_variant MELA-AU 14 100217081 100217081 single base substitution G A intron_variant MELA-AU 14 100217095 100217095 single base substitution G A intron_variant MELA-AU 14 100217100 100217100 single base substitution C T intron_variant MELA-AU 14 100217232 100217232 single base substitution C T intron_variant MELA-AU 14 100217315 100217315 single base substitution C T intron_variant MELA-AU 14 100217915 100217915 single base substitution C T intron_variant MELA-AU 14 100218228 100218228 single base substitution G A intron_variant MELA-AU 14 100218575 100218575 single base substitution G A intron_variant MELA-AU 14 100218612 100218612 single base substitution C T intron_variant MELA-AU 14 100218971 100218971 single base substitution G A intron_variant MELA-AU 14 100219149 100219149 single base substitution C T intron_variant MELA-AU 14 100219740 100219740 single base substitution C T intron_variant MELA-AU 14 100219837 100219837 single base substitution C T intron_variant MELA-AU 14 100219879 100219879 single base substitution C T intron_variant MELA-AU 14 100219980 100219980 single base substitution G A intron_variant MELA-AU 14 100220113 100220113 single base substitution T G intron_variant MELA-AU 14 100220316 100220316 single base substitution C T intron_variant MELA-AU 14 100220341 100220341 single base substitution C T intron_variant MELA-AU 14 100220439 100220439 single base substitution G A intron_variant MELA-AU 14 100220508 100220508 single base substitution C T intron_variant MELA-AU 14 100220517 100220517 single base substitution G A intron_variant MELA-AU 14 100220654 100220654 single base substitution G A intron_variant MELA-AU 14 100220672 100220672 single base substitution C T intron_variant MELA-AU 14 100220844 100220844 single base substitution G A intron_variant MELA-AU 14 100221155 100221155 single base substitution C T intron_variant MELA-AU 14 100221307 100221307 single base substitution C T intron_variant MELA-AU 14 100221338 100221338 single base substitution C A intron_variant MELA-AU 14 100221409 100221409 single base substitution G A intron_variant MELA-AU 14 100221430 100221430 single base substitution G A intron_variant MELA-AU 14 100221459 100221459 single base substitution C T intron_variant MELA-AU 14 100221626 100221626 single base substitution C T intron_variant MELA-AU 14 100221907 100221907 single base substitution G A intron_variant MELA-AU 14 100222078 100222078 single base substitution C T intron_variant MELA-AU 14 100222179 100222179 single base substitution G A intron_variant MELA-AU 14 100222264 100222264 single base substitution G A intron_variant MELA-AU 14 100222313 100222313 single base substitution G C intron_variant MELA-AU 14 100222316 100222316 single base substitution A C intron_variant MELA-AU 14 100222389 100222389 single base substitution G A intron_variant MELA-AU 14 100222442 100222442 single base substitution G A intron_variant MELA-AU 14 100222844 100222844 single base substitution G A intron_variant MELA-AU 14 100222871 100222871 single base substitution G A intron_variant MELA-AU 14 100223164 100223164 single base substitution C T intron_variant MELA-AU 14 100223424 100223424 single base substitution C T intron_variant MELA-AU 14 100223586 100223586 single base substitution G A intron_variant MELA-AU 14 100223603 100223603 single base substitution G A intron_variant MELA-AU 14 100224061 100224061 single base substitution T C intron_variant MELA-AU 14 100224442 100224442 single base substitution A G intron_variant MELA-AU 14 100224454 100224454 single base substitution G A intron_variant MELA-AU 14 100224772 100224772 single base substitution G C intron_variant MELA-AU 14 100225082 100225082 single base substitution G A intron_variant MELA-AU 14 100225210 100225210 single base substitution A G intron_variant MELA-AU 14 100225383 100225383 single base substitution G A intron_variant MELA-AU 14 100225440 100225440 single base substitution G A intron_variant MELA-AU 14 100225463 100225463 single base substitution G A intron_variant MELA-AU 14 100225600 100225600 single base substitution C T intron_variant MELA-AU 14 100226048 100226048 single base substitution C T intron_variant MELA-AU 14 100226056 100226056 single base substitution C T intron_variant MELA-AU 14 100226326 100226326 single base substitution C T intron_variant MELA-AU 14 100226478 100226478 single base substitution C T intron_variant MELA-AU 14 100226625 100226625 single base substitution C T intron_variant MELA-AU 14 100226990 100226990 single base substitution C T intron_variant MELA-AU 14 100227155 100227155 single base substitution C G intron_variant MELA-AU 14 100227171 100227171 single base substitution A G intron_variant MELA-AU 14 100227334 100227334 single base substitution C T intron_variant MELA-AU 14 100227671 100227671 single base substitution T A intron_variant MELA-AU 14 100228155 100228155 single base substitution G A intron_variant MELA-AU 14 100228280 100228280 single base substitution C T intron_variant MELA-AU 14 100228348 100228348 single base substitution G A intron_variant MELA-AU 14 100228482 100228482 single base substitution C T intron_variant MELA-AU 14 100228486 100228486 single base substitution G A intron_variant MELA-AU 14 100228629 100228629 single base substitution C T intron_variant MELA-AU 14 100228967 100228967 single base substitution C T intron_variant MELA-AU 14 100229039 100229039 single base substitution G A intron_variant MELA-AU 14 100229323 100229323 single base substitution C T intron_variant MELA-AU 14 100229411 100229411 single base substitution G A intron_variant MELA-AU 14 100230472 100230472 single base substitution C T intron_variant MELA-AU 14 100230652 100230652 single base substitution G A intron_variant MELA-AU 14 100230753 100230753 single base substitution C T intron_variant MELA-AU 14 100230811 100230811 single base substitution C T intron_variant MELA-AU 14 100230965 100230965 single base substitution C T intron_variant MELA-AU 14 100231104 100231104 single base substitution G A intron_variant MELA-AU 14 100231143 100231143 single base substitution G A intron_variant MELA-AU 14 100231259 100231259 single base substitution G C intron_variant MELA-AU 14 100231454 100231454 deletion of <=200bp A - intron_variant MELA-AU 14 100231468 100231468 single base substitution G A intron_variant MELA-AU 14 100231475 100231475 single base substitution C T intron_variant MELA-AU 14 100231519 100231519 single base substitution C T intron_variant MELA-AU 14 100231519 100231520 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100231720 100231720 single base substitution C T intron_variant MELA-AU 14 100232194 100232194 single base substitution G A intron_variant MELA-AU 14 100232318 100232318 single base substitution G A intron_variant MELA-AU 14 100232430 100232430 single base substitution G A intron_variant MELA-AU 14 100232516 100232516 single base substitution G A intron_variant MELA-AU 14 100232750 100232750 single base substitution C T intron_variant MELA-AU 14 100232767 100232768 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100232800 100232800 single base substitution G A intron_variant MELA-AU 14 100233387 100233387 single base substitution C T intron_variant MELA-AU 14 100233849 100233849 single base substitution G A intron_variant MELA-AU 14 100233920 100233920 single base substitution C T intron_variant MELA-AU 14 100233929 100233929 single base substitution G A intron_variant MELA-AU 14 100233982 100233982 single base substitution G A intron_variant MELA-AU 14 100234353 100234353 single base substitution T C intron_variant MELA-AU 14 100234353 100234353 single base substitution T C upstream_gene_variant MELA-AU 14 100234382 100234382 single base substitution C T intron_variant MELA-AU 14 100234382 100234382 single base substitution C T upstream_gene_variant MELA-AU 14 100234508 100234508 single base substitution C T intron_variant MELA-AU 14 100234508 100234508 single base substitution C T upstream_gene_variant MELA-AU 14 100234589 100234589 single base substitution G A intron_variant MELA-AU 14 100234589 100234589 single base substitution G A upstream_gene_variant MELA-AU 14 100234685 100234685 single base substitution C T intron_variant MELA-AU 14 100234685 100234685 single base substitution C T upstream_gene_variant MELA-AU 14 100234937 100234937 single base substitution G A intron_variant MELA-AU 14 100234937 100234937 single base substitution G A upstream_gene_variant MELA-AU 14 100234958 100234958 single base substitution G A intron_variant MELA-AU 14 100234958 100234958 single base substitution G A upstream_gene_variant MELA-AU 14 100235425 100235425 single base substitution C T intron_variant MELA-AU 14 100235425 100235425 single base substitution C T upstream_gene_variant MELA-AU 14 100235426 100235426 single base substitution G A intron_variant MELA-AU 14 100235426 100235426 single base substitution G A upstream_gene_variant MELA-AU 14 100235486 100235486 single base substitution G A intron_variant MELA-AU 14 100235486 100235486 single base substitution G A upstream_gene_variant MELA-AU 14 100235666 100235666 single base substitution C T intron_variant MELA-AU 14 100235666 100235666 single base substitution C T upstream_gene_variant MELA-AU 14 100235990 100235990 single base substitution G A intron_variant MELA-AU 14 100235990 100235990 single base substitution G A upstream_gene_variant MELA-AU 14 100236194 100236194 single base substitution C T intron_variant MELA-AU 14 100236194 100236194 single base substitution C T upstream_gene_variant MELA-AU 14 100236414 100236414 single base substitution C T intron_variant MELA-AU 14 100236414 100236414 single base substitution C T upstream_gene_variant MELA-AU 14 100236415 100236415 single base substitution C T intron_variant MELA-AU 14 100236415 100236415 single base substitution C T upstream_gene_variant MELA-AU 14 100236425 100236425 single base substitution C T intron_variant MELA-AU 14 100236425 100236425 single base substitution C T upstream_gene_variant MELA-AU 14 100236450 100236450 single base substitution C T intron_variant MELA-AU 14 100236450 100236450 single base substitution C T upstream_gene_variant MELA-AU 14 100236511 100236511 single base substitution C T intron_variant MELA-AU 14 100236511 100236511 single base substitution C T upstream_gene_variant MELA-AU 14 100236549 100236549 single base substitution C T intron_variant MELA-AU 14 100236549 100236549 single base substitution C T upstream_gene_variant MELA-AU 14 100236653 100236653 single base substitution C T intron_variant MELA-AU 14 100236653 100236653 single base substitution C T upstream_gene_variant MELA-AU 14 100236712 100236712 single base substitution C T intron_variant MELA-AU 14 100236712 100236712 single base substitution C T upstream_gene_variant MELA-AU 14 100236815 100236815 single base substitution C T intron_variant MELA-AU 14 100236815 100236815 single base substitution C T upstream_gene_variant MELA-AU 14 100236895 100236895 single base substitution G T intron_variant MELA-AU 14 100236895 100236895 single base substitution G T upstream_gene_variant MELA-AU 14 100236978 100236978 single base substitution G A intron_variant MELA-AU 14 100236978 100236978 single base substitution G A upstream_gene_variant MELA-AU 14 100237032 100237032 single base substitution G A intron_variant MELA-AU 14 100237032 100237032 single base substitution G A upstream_gene_variant MELA-AU 14 100237152 100237152 single base substitution C T intron_variant MELA-AU 14 100237152 100237152 single base substitution C T upstream_gene_variant MELA-AU 14 100237624 100237624 single base substitution C T intron_variant MELA-AU 14 100237624 100237624 single base substitution C T upstream_gene_variant MELA-AU 14 100237745 100237745 single base substitution C T intron_variant MELA-AU 14 100237745 100237745 single base substitution C T upstream_gene_variant MELA-AU 14 100237897 100237897 single base substitution C T intron_variant MELA-AU 14 100237897 100237897 single base substitution C T upstream_gene_variant MELA-AU 14 100238425 100238425 single base substitution G A intron_variant MELA-AU 14 100238425 100238425 single base substitution G A upstream_gene_variant MELA-AU 14 100238776 100238776 single base substitution C T intron_variant MELA-AU 14 100238776 100238776 single base substitution C T upstream_gene_variant MELA-AU 14 100239126 100239126 single base substitution T C intron_variant MELA-AU 14 100239126 100239126 single base substitution T C upstream_gene_variant MELA-AU 14 100239138 100239138 single base substitution T A intron_variant MELA-AU 14 100239138 100239138 single base substitution T A upstream_gene_variant MELA-AU 14 100239802 100239802 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100239802 100239802 single base substitution G A intron_variant MELA-AU 14 100239802 100239802 single base substitution G A upstream_gene_variant MELA-AU 14 100240030 100240030 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100240030 100240030 single base substitution G A intron_variant MELA-AU 14 100240030 100240030 single base substitution G A upstream_gene_variant MELA-AU 14 100240163 100240163 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100240163 100240163 single base substitution G A intron_variant MELA-AU 14 100240275 100240275 single base substitution C T 5_prime_UTR_variant MELA-AU 14 100240275 100240275 single base substitution C T intron_variant MELA-AU 14 100240289 100240289 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100240289 100240289 single base substitution G A intron_variant MELA-AU 14 100240313 100240313 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100240313 100240313 single base substitution G A intron_variant MELA-AU 14 100240395 100240396 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100240530 100240530 single base substitution C T intron_variant MELA-AU 14 100240589 100240589 single base substitution C T intron_variant MELA-AU 14 100240695 100240695 single base substitution C T intron_variant MELA-AU 14 100240732 100240732 single base substitution G A intron_variant MELA-AU 14 100240840 100240840 single base substitution C T intron_variant MELA-AU 14 100241309 100241309 single base substitution G A intron_variant MELA-AU 14 100241579 100241579 single base substitution C T intron_variant MELA-AU 14 100241651 100241651 single base substitution G A intron_variant MELA-AU 14 100241658 100241658 single base substitution G A intron_variant MELA-AU 14 100241963 100241963 single base substitution G A intron_variant MELA-AU 14 100242098 100242098 single base substitution G A intron_variant MELA-AU 14 100242191 100242191 single base substitution G A intron_variant MELA-AU 14 100242219 100242219 single base substitution C T intron_variant MELA-AU 14 100242259 100242259 single base substitution G A intron_variant MELA-AU 14 100242323 100242323 single base substitution C T intron_variant MELA-AU 14 100242420 100242420 single base substitution G A intron_variant MELA-AU 14 100242533 100242533 single base substitution G A intron_variant MELA-AU 14 100242724 100242724 single base substitution C T intron_variant MELA-AU 14 100242885 100242885 single base substitution C T intron_variant MELA-AU 14 100243198 100243198 single base substitution C T intron_variant MELA-AU 14 100243329 100243329 single base substitution G A intron_variant MELA-AU 14 100243414 100243414 single base substitution C T intron_variant MELA-AU 14 100243642 100243642 single base substitution C T intron_variant MELA-AU 14 100243725 100243726 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100243907 100243907 single base substitution C T intron_variant MELA-AU 14 100243953 100243953 single base substitution C T intron_variant MELA-AU 14 100244008 100244008 single base substitution C T intron_variant MELA-AU 14 100244169 100244169 single base substitution C T intron_variant MELA-AU 14 100244317 100244317 single base substitution G A intron_variant MELA-AU 14 100244379 100244379 single base substitution C T intron_variant MELA-AU 14 100244653 100244653 single base substitution C T intron_variant MELA-AU 14 100244679 100244679 single base substitution C T intron_variant MELA-AU 14 100244784 100244784 single base substitution C T intron_variant MELA-AU 14 100245184 100245184 single base substitution C T intron_variant MELA-AU 14 100245455 100245455 single base substitution C T intron_variant MELA-AU 14 100245592 100245592 single base substitution C T intron_variant MELA-AU 14 100245749 100245749 single base substitution C T intron_variant MELA-AU 14 100245922 100245922 single base substitution G A intron_variant MELA-AU 14 100245965 100245965 single base substitution C T intron_variant MELA-AU 14 100246219 100246219 single base substitution G T intron_variant MELA-AU 14 100246462 100246462 single base substitution C T intron_variant MELA-AU 14 100246466 100246466 single base substitution T G intron_variant MELA-AU 14 100246682 100246682 single base substitution C T intron_variant MELA-AU 14 100246689 100246689 single base substitution C T intron_variant MELA-AU 14 100246708 100246708 single base substitution G A intron_variant MELA-AU 14 100246834 100246834 single base substitution C T intron_variant MELA-AU 14 100247327 100247327 single base substitution C G intron_variant MELA-AU 14 100247336 100247336 single base substitution C T intron_variant MELA-AU 14 100247380 100247380 single base substitution G A intron_variant MELA-AU 14 100247430 100247430 single base substitution G A intron_variant MELA-AU 14 100247455 100247455 single base substitution C T intron_variant MELA-AU 14 100247491 100247491 single base substitution C T intron_variant MELA-AU 14 100247534 100247534 single base substitution C T intron_variant MELA-AU 14 100247595 100247595 single base substitution C T intron_variant MELA-AU 14 100247742 100247742 single base substitution C T intron_variant MELA-AU 14 100247895 100247895 single base substitution C T intron_variant MELA-AU 14 100247924 100247924 single base substitution C T intron_variant MELA-AU 14 100248198 100248198 single base substitution C T intron_variant MELA-AU 14 100248237 100248237 single base substitution G A intron_variant MELA-AU 14 100248243 100248243 single base substitution C T intron_variant MELA-AU 14 100248329 100248329 single base substitution C T intron_variant MELA-AU 14 100248344 100248344 single base substitution A C intron_variant MELA-AU 14 100248423 100248423 single base substitution C T intron_variant MELA-AU 14 100248652 100248652 single base substitution C T intron_variant MELA-AU 14 100248663 100248663 single base substitution C T intron_variant MELA-AU 14 100248790 100248790 single base substitution C T intron_variant MELA-AU 14 100248803 100248803 single base substitution G A intron_variant MELA-AU 14 100248943 100248943 single base substitution G A intron_variant MELA-AU 14 100249320 100249320 single base substitution C T intron_variant MELA-AU 14 100249517 100249517 single base substitution C T intron_variant MELA-AU 14 100249576 100249576 single base substitution G A intron_variant MELA-AU 14 100249817 100249817 single base substitution G A intron_variant MELA-AU 14 100250286 100250286 single base substitution G A intron_variant MELA-AU 14 100250335 100250335 single base substitution G A intron_variant MELA-AU 14 100250737 100250737 single base substitution A G intron_variant MELA-AU 14 100250743 100250743 single base substitution T A intron_variant MELA-AU 14 100250814 100250814 single base substitution T C intron_variant MELA-AU 14 100250868 100250868 single base substitution T G intron_variant MELA-AU 14 100250871 100250871 single base substitution G T intron_variant MELA-AU 14 100250965 100250965 single base substitution G A intron_variant MELA-AU 14 100251084 100251084 single base substitution G A intron_variant MELA-AU 14 100251359 100251359 single base substitution G A intron_variant MELA-AU 14 100251395 100251395 single base substitution C T intron_variant MELA-AU 14 100251472 100251472 single base substitution A G intron_variant MELA-AU 14 100251554 100251555 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 14 100251557 100251557 single base substitution A T intron_variant MELA-AU 14 100251612 100251612 single base substitution G A intron_variant MELA-AU 14 100251617 100251617 single base substitution C T intron_variant MELA-AU 14 100251884 100251884 single base substitution G A intron_variant MELA-AU 14 100251892 100251892 single base substitution G A intron_variant MELA-AU 14 100251894 100251894 single base substitution T A intron_variant MELA-AU 14 100251931 100251931 single base substitution G A intron_variant MELA-AU 14 100252098 100252098 single base substitution G A intron_variant MELA-AU 14 100252290 100252290 single base substitution G A intron_variant MELA-AU 14 100252343 100252343 single base substitution C T intron_variant MELA-AU 14 100252706 100252706 single base substitution C A intron_variant MELA-AU 14 100252888 100252888 single base substitution C T intron_variant MELA-AU 14 100253055 100253056 multiple base substitution (>=2bp and <=200bp) AG CA intron_variant MELA-AU 14 100253738 100253739 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100253836 100253836 single base substitution G A intron_variant MELA-AU 14 100254396 100254396 single base substitution G A intron_variant MELA-AU 14 100254396 100254396 single base substitution G A upstream_gene_variant MELA-AU 14 100254600 100254600 single base substitution T C intron_variant MELA-AU 14 100254600 100254600 single base substitution T C upstream_gene_variant MELA-AU 14 100254783 100254783 single base substitution T C intron_variant MELA-AU 14 100254783 100254783 single base substitution T C upstream_gene_variant MELA-AU 14 100254844 100254844 single base substitution G A intron_variant MELA-AU 14 100254844 100254844 single base substitution G A upstream_gene_variant MELA-AU 14 100254853 100254853 single base substitution G A intron_variant MELA-AU 14 100254853 100254853 single base substitution G A upstream_gene_variant MELA-AU 14 100254944 100254944 single base substitution G A intron_variant MELA-AU 14 100254944 100254944 single base substitution G A upstream_gene_variant MELA-AU 14 100255122 100255122 single base substitution G A intron_variant MELA-AU 14 100255122 100255122 single base substitution G A upstream_gene_variant MELA-AU 14 100255161 100255161 single base substitution C T intron_variant MELA-AU 14 100255161 100255161 single base substitution C T upstream_gene_variant MELA-AU 14 100255350 100255350 single base substitution A G intron_variant MELA-AU 14 100255350 100255350 single base substitution A G upstream_gene_variant MELA-AU 14 100255379 100255379 single base substitution T C intron_variant MELA-AU 14 100255379 100255379 single base substitution T C upstream_gene_variant MELA-AU 14 100256252 100256252 single base substitution C T intron_variant MELA-AU 14 100256252 100256252 single base substitution C T upstream_gene_variant MELA-AU 14 100256588 100256588 single base substitution C T intron_variant MELA-AU 14 100256588 100256588 single base substitution C T upstream_gene_variant MELA-AU 14 100256835 100256835 single base substitution C T intron_variant MELA-AU 14 100256835 100256835 single base substitution C T upstream_gene_variant MELA-AU 14 100256881 100256881 single base substitution C T intron_variant MELA-AU 14 100256881 100256881 single base substitution C T upstream_gene_variant MELA-AU 14 100256960 100256960 single base substitution G A intron_variant MELA-AU 14 100256960 100256960 single base substitution G A upstream_gene_variant MELA-AU 14 100257059 100257059 single base substitution C T intron_variant MELA-AU 14 100257059 100257059 single base substitution C T upstream_gene_variant MELA-AU 14 100257156 100257156 single base substitution C T intron_variant MELA-AU 14 100257156 100257156 single base substitution C T upstream_gene_variant MELA-AU 14 100257169 100257169 single base substitution C T intron_variant MELA-AU 14 100257169 100257169 single base substitution C T upstream_gene_variant MELA-AU 14 100257258 100257258 single base substitution G A intron_variant MELA-AU 14 100257258 100257258 single base substitution G A upstream_gene_variant MELA-AU 14 100257485 100257485 single base substitution C T intron_variant MELA-AU 14 100257485 100257485 single base substitution C T upstream_gene_variant MELA-AU 14 100258545 100258545 single base substitution G A intron_variant MELA-AU 14 100258545 100258545 single base substitution G A upstream_gene_variant MELA-AU 14 100259054 100259054 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100259054 100259054 single base substitution G A intron_variant MELA-AU 14 100259054 100259054 single base substitution G A upstream_gene_variant MELA-AU 14 100259296 100259296 single base substitution G A intron_variant MELA-AU 14 100259296 100259296 single base substitution G A upstream_gene_variant MELA-AU 14 100260225 100260225 single base substitution G A intron_variant MELA-AU 14 100260739 100260739 single base substitution G A intron_variant MELA-AU 14 100260805 100260806 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100261601 100261601 single base substitution C T intron_variant MELA-AU 14 100261617 100261617 single base substitution C T intron_variant MELA-AU 14 100262283 100262283 single base substitution G A intron_variant MELA-AU 14 100263079 100263079 single base substitution G A intron_variant MELA-AU 14 100263644 100263644 single base substitution C T intron_variant MELA-AU 14 100264079 100264079 single base substitution C T intron_variant MELA-AU 14 100264152 100264152 single base substitution C T intron_variant MELA-AU 14 100264257 100264257 single base substitution C A intron_variant MELA-AU 14 100264462 100264462 single base substitution G A intron_variant MELA-AU 14 100264466 100264466 single base substitution C T intron_variant MELA-AU 14 100264819 100264819 single base substitution C T intron_variant MELA-AU 14 100264839 100264839 single base substitution C T intron_variant MELA-AU 14 100264864 100264864 single base substitution G A intron_variant MELA-AU 14 100265533 100265533 single base substitution C T intron_variant MELA-AU 14 100265865 100265865 single base substitution G A intron_variant MELA-AU 14 100265880 100265880 single base substitution G A intron_variant MELA-AU 14 100266023 100266023 single base substitution C T intron_variant MELA-AU 14 100266541 100266541 single base substitution G A intron_variant MELA-AU 14 100266572 100266572 single base substitution G A intron_variant MELA-AU 14 100266692 100266692 single base substitution T G intron_variant MELA-AU 14 100266874 100266874 single base substitution A T intron_variant MELA-AU 14 100266928 100266928 single base substitution C G intron_variant MELA-AU 14 100266943 100266943 single base substitution C T intron_variant MELA-AU 14 100266974 100266974 single base substitution G A intron_variant MELA-AU 14 100267080 100267080 single base substitution G A intron_variant MELA-AU 14 100267213 100267213 single base substitution C T intron_variant MELA-AU 14 100267371 100267371 single base substitution C T intron_variant MELA-AU 14 100267395 100267395 single base substitution C T intron_variant MELA-AU 14 100267520 100267520 single base substitution G A intron_variant MELA-AU 14 100268031 100268031 single base substitution G A intron_variant MELA-AU 14 100268220 100268220 single base substitution T A intron_variant MELA-AU 14 100268359 100268359 single base substitution G A intron_variant MELA-AU 14 100268398 100268398 single base substitution C T intron_variant MELA-AU 14 100268755 100268755 single base substitution C T intron_variant MELA-AU 14 100268877 100268877 single base substitution C T intron_variant MELA-AU 14 100268967 100268967 single base substitution G A intron_variant MELA-AU 14 100269404 100269404 single base substitution C T intron_variant MELA-AU 14 100269869 100269869 single base substitution G A intron_variant MELA-AU 14 100270033 100270033 single base substitution G A intron_variant MELA-AU 14 100270089 100270089 single base substitution C T intron_variant MELA-AU 14 100270143 100270143 single base substitution C T intron_variant MELA-AU 14 100270471 100270471 single base substitution C T intron_variant MELA-AU 14 100270524 100270524 single base substitution A G intron_variant MELA-AU 14 100270564 100270564 single base substitution C T intron_variant MELA-AU 14 100270575 100270575 single base substitution G A intron_variant MELA-AU 14 100270760 100270760 single base substitution C T intron_variant MELA-AU 14 100270848 100270848 single base substitution C T intron_variant MELA-AU 14 100270848 100270848 single base substitution C T upstream_gene_variant MELA-AU 14 100270947 100270947 single base substitution G A intron_variant MELA-AU 14 100270947 100270947 single base substitution G A upstream_gene_variant MELA-AU 14 100270949 100270949 single base substitution G A intron_variant MELA-AU 14 100270949 100270949 single base substitution G A upstream_gene_variant MELA-AU 14 100271208 100271208 single base substitution G A intron_variant MELA-AU 14 100271208 100271208 single base substitution G A upstream_gene_variant MELA-AU 14 100271214 100271214 single base substitution C T intron_variant MELA-AU 14 100271214 100271214 single base substitution C T upstream_gene_variant MELA-AU 14 100271402 100271402 single base substitution C T intron_variant MELA-AU 14 100271402 100271402 single base substitution C T upstream_gene_variant MELA-AU 14 100271543 100271543 single base substitution A G intron_variant MELA-AU 14 100271543 100271543 single base substitution A G upstream_gene_variant MELA-AU 14 100271752 100271752 single base substitution T C intron_variant MELA-AU 14 100271752 100271752 single base substitution T C upstream_gene_variant MELA-AU 14 100271809 100271809 single base substitution C T intron_variant MELA-AU 14 100271809 100271809 single base substitution C T upstream_gene_variant MELA-AU 14 100271946 100271947 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100271946 100271947 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 100271954 100271954 single base substitution G C intron_variant MELA-AU 14 100271954 100271954 single base substitution G C upstream_gene_variant MELA-AU 14 100272009 100272009 single base substitution C T intron_variant MELA-AU 14 100272009 100272009 single base substitution C T upstream_gene_variant MELA-AU 14 100272070 100272070 single base substitution C T intron_variant MELA-AU 14 100272070 100272070 single base substitution C T upstream_gene_variant MELA-AU 14 100272226 100272226 single base substitution T C intron_variant MELA-AU 14 100272226 100272226 single base substitution T C upstream_gene_variant MELA-AU 14 100272287 100272287 single base substitution C T intron_variant MELA-AU 14 100272287 100272287 single base substitution C T upstream_gene_variant MELA-AU 14 100272317 100272317 single base substitution C T intron_variant MELA-AU 14 100272317 100272317 single base substitution C T upstream_gene_variant MELA-AU 14 100272477 100272477 single base substitution C T intron_variant MELA-AU 14 100272477 100272477 single base substitution C T upstream_gene_variant MELA-AU 14 100272641 100272641 single base substitution G A intron_variant MELA-AU 14 100272641 100272641 single base substitution G A upstream_gene_variant MELA-AU 14 100272764 100272764 single base substitution C T intron_variant MELA-AU 14 100272764 100272764 single base substitution C T upstream_gene_variant MELA-AU 14 100272872 100272872 single base substitution C T intron_variant MELA-AU 14 100272872 100272872 single base substitution C T upstream_gene_variant MELA-AU 14 100273116 100273116 single base substitution G A intron_variant MELA-AU 14 100273116 100273116 single base substitution G A upstream_gene_variant MELA-AU 14 100273286 100273286 single base substitution G A intron_variant MELA-AU 14 100273286 100273286 single base substitution G A upstream_gene_variant MELA-AU 14 100274063 100274063 single base substitution G A intron_variant MELA-AU 14 100274063 100274063 single base substitution G A upstream_gene_variant MELA-AU 14 100274478 100274478 single base substitution C T intron_variant MELA-AU 14 100274478 100274478 single base substitution C T upstream_gene_variant MELA-AU 14 100274525 100274525 single base substitution C T intron_variant MELA-AU 14 100274525 100274525 single base substitution C T upstream_gene_variant MELA-AU 14 100274590 100274590 single base substitution C T intron_variant MELA-AU 14 100274590 100274590 single base substitution C T upstream_gene_variant MELA-AU 14 100274624 100274624 single base substitution C T intron_variant MELA-AU 14 100274624 100274624 single base substitution C T upstream_gene_variant MELA-AU 14 100274824 100274824 single base substitution T C intron_variant MELA-AU 14 100274824 100274824 single base substitution T C upstream_gene_variant MELA-AU 14 100275097 100275097 single base substitution C T intron_variant MELA-AU 14 100275097 100275097 single base substitution C T upstream_gene_variant MELA-AU 14 100275589 100275589 single base substitution C T intron_variant MELA-AU 14 100275589 100275589 single base substitution C T upstream_gene_variant MELA-AU 14 100275661 100275661 single base substitution T G intron_variant MELA-AU 14 100275661 100275661 single base substitution T G upstream_gene_variant MELA-AU 14 100275980 100275980 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100275980 100275980 single base substitution G A intron_variant MELA-AU 14 100276813 100276813 single base substitution C T intron_variant MELA-AU 14 100277503 100277503 single base substitution G T intron_variant MELA-AU 14 100277836 100277836 single base substitution G A intron_variant MELA-AU 14 100277943 100277943 single base substitution C T intron_variant MELA-AU 14 100278165 100278165 single base substitution G A intron_variant MELA-AU 14 100278188 100278188 single base substitution A T intron_variant MELA-AU 14 100278303 100278303 single base substitution G A intron_variant MELA-AU 14 100278348 100278348 single base substitution C T intron_variant MELA-AU 14 100278556 100278557 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100278703 100278703 single base substitution G A intron_variant MELA-AU 14 100278812 100278812 single base substitution G A intron_variant MELA-AU 14 100278858 100278858 single base substitution C T intron_variant MELA-AU 14 100278879 100278879 single base substitution C T intron_variant MELA-AU 14 100278985 100278985 single base substitution G A intron_variant MELA-AU 14 100279164 100279164 single base substitution C T intron_variant MELA-AU 14 100279707 100279707 single base substitution C T intron_variant MELA-AU 14 100279958 100279958 single base substitution C T intron_variant MELA-AU 14 100280092 100280092 single base substitution T A intron_variant MELA-AU 14 100280174 100280174 single base substitution T C intron_variant MELA-AU 14 100280226 100280226 single base substitution C T intron_variant MELA-AU 14 100280545 100280545 single base substitution C T intron_variant MELA-AU 14 100280676 100280676 single base substitution G A intron_variant MELA-AU 14 100280749 100280749 single base substitution C T intron_variant MELA-AU 14 100280752 100280752 single base substitution C T intron_variant MELA-AU 14 100281045 100281045 single base substitution G A intron_variant MELA-AU 14 100281047 100281047 single base substitution G A intron_variant MELA-AU 14 100281569 100281569 single base substitution C T intron_variant MELA-AU 14 100282226 100282226 single base substitution C T intron_variant MELA-AU 14 100282458 100282458 single base substitution C T intron_variant MELA-AU 14 100282474 100282474 single base substitution C T intron_variant MELA-AU 14 100282628 100282628 single base substitution G A intron_variant MELA-AU 14 100282693 100282693 single base substitution T C intron_variant MELA-AU 14 100282752 100282752 single base substitution G A intron_variant MELA-AU 14 100282770 100282770 single base substitution G A intron_variant MELA-AU 14 100282989 100282989 single base substitution T C intron_variant MELA-AU 14 100283313 100283313 single base substitution C T intron_variant MELA-AU 14 100283423 100283423 single base substitution C T intron_variant MELA-AU 14 100283514 100283514 single base substitution C T intron_variant MELA-AU 14 100283611 100283611 single base substitution G A intron_variant MELA-AU 14 100283692 100283692 single base substitution G A intron_variant MELA-AU 14 100283846 100283846 single base substitution G A intron_variant MELA-AU 14 100283866 100283866 single base substitution G C intron_variant MELA-AU 14 100283947 100283947 single base substitution C T intron_variant MELA-AU 14 100284011 100284011 single base substitution C T intron_variant MELA-AU 14 100284114 100284114 single base substitution C T intron_variant MELA-AU 14 100284389 100284389 single base substitution G A intron_variant MELA-AU 14 100284491 100284491 single base substitution G A intron_variant MELA-AU 14 100284502 100284502 single base substitution C T intron_variant MELA-AU 14 100284895 100284895 single base substitution G A intron_variant MELA-AU 14 100285193 100285193 single base substitution A C intron_variant MELA-AU 14 100285498 100285498 single base substitution C T intron_variant MELA-AU 14 100285625 100285625 single base substitution G A intron_variant MELA-AU 14 100285771 100285771 single base substitution G A intron_variant MELA-AU 14 100285866 100285866 single base substitution G A intron_variant MELA-AU 14 100285900 100285900 single base substitution G A intron_variant MELA-AU 14 100286080 100286080 single base substitution G A intron_variant MELA-AU 14 100286253 100286253 single base substitution G A intron_variant MELA-AU 14 100287187 100287187 single base substitution G A intron_variant MELA-AU 14 100287704 100287704 single base substitution C T intron_variant MELA-AU 14 100287828 100287828 single base substitution C T intron_variant MELA-AU 14 100288517 100288517 single base substitution C T intron_variant MELA-AU 14 100288791 100288791 single base substitution G A intron_variant MELA-AU 14 100288897 100288897 single base substitution C T intron_variant MELA-AU 14 100289647 100289647 single base substitution G T intron_variant MELA-AU 14 100289709 100289709 single base substitution C T intron_variant MELA-AU 14 100289773 100289773 single base substitution C T intron_variant MELA-AU 14 100289904 100289904 single base substitution C T intron_variant MELA-AU 14 100290078 100290078 single base substitution G A intron_variant MELA-AU 14 100290083 100290083 single base substitution C T intron_variant MELA-AU 14 100290201 100290201 single base substitution G A intron_variant MELA-AU 14 100290210 100290210 single base substitution C T intron_variant MELA-AU 14 100290427 100290428 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100290714 100290714 single base substitution T C intron_variant MELA-AU 14 100290921 100290921 single base substitution A T intron_variant MELA-AU 14 100291036 100291036 single base substitution G A intron_variant MELA-AU 14 100291090 100291090 single base substitution G A intron_variant MELA-AU 14 100291252 100291252 single base substitution T C intron_variant MELA-AU 14 100291288 100291288 single base substitution T A intron_variant MELA-AU 14 100291290 100291290 single base substitution C T intron_variant MELA-AU 14 100291294 100291294 single base substitution C T intron_variant MELA-AU 14 100292485 100292485 single base substitution C T intron_variant MELA-AU 14 100292681 100292681 single base substitution C T intron_variant MELA-AU 14 100292776 100292776 single base substitution G A intron_variant MELA-AU 14 100293018 100293018 single base substitution C T intron_variant MELA-AU 14 100293094 100293094 single base substitution G A intron_variant MELA-AU 14 100293510 100293510 single base substitution C T intron_variant MELA-AU 14 100293602 100293603 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100293603 100293603 single base substitution G A intron_variant MELA-AU 14 100293683 100293684 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100294291 100294291 single base substitution C T intron_variant MELA-AU 14 100294489 100294489 single base substitution C T intron_variant MELA-AU 14 100294493 100294493 single base substitution T G intron_variant MELA-AU 14 100294644 100294644 single base substitution G A intron_variant MELA-AU 14 100294814 100294814 single base substitution C T intron_variant MELA-AU 14 100295017 100295017 single base substitution C T intron_variant MELA-AU 14 100295422 100295422 single base substitution C T intron_variant MELA-AU 14 100295423 100295423 single base substitution C T intron_variant MELA-AU 14 100295447 100295447 single base substitution C T intron_variant MELA-AU 14 100295523 100295523 single base substitution C T intron_variant MELA-AU 14 100295561 100295561 single base substitution G A intron_variant MELA-AU 14 100295764 100295764 single base substitution T C intron_variant MELA-AU 14 100295968 100295968 single base substitution C T intron_variant MELA-AU 14 100296145 100296145 single base substitution C T intron_variant MELA-AU 14 100296168 100296168 single base substitution C T intron_variant MELA-AU 14 100296221 100296221 single base substitution C T intron_variant MELA-AU 14 100296365 100296365 single base substitution C T intron_variant MELA-AU 14 100296716 100296716 single base substitution A G intron_variant MELA-AU 14 100296817 100296817 single base substitution C T intron_variant MELA-AU 14 100296920 100296920 single base substitution T G intron_variant MELA-AU 14 100297114 100297114 single base substitution C T intron_variant MELA-AU 14 100297215 100297215 single base substitution G A intron_variant MELA-AU 14 100297273 100297273 single base substitution C T intron_variant MELA-AU 14 100297315 100297315 single base substitution C T intron_variant MELA-AU 14 100297404 100297404 single base substitution G A intron_variant MELA-AU 14 100297753 100297753 single base substitution C T intron_variant MELA-AU 14 100297789 100297789 single base substitution C T intron_variant MELA-AU 14 100297838 100297838 single base substitution G A intron_variant MELA-AU 14 100297982 100297982 single base substitution A G intron_variant MELA-AU 14 100298397 100298397 single base substitution C T intron_variant MELA-AU 14 100298421 100298421 single base substitution A G intron_variant MELA-AU 14 100298430 100298430 single base substitution T C intron_variant MELA-AU 14 100298448 100298448 single base substitution T C intron_variant MELA-AU 14 100298629 100298629 single base substitution T C intron_variant MELA-AU 14 100298632 100298632 single base substitution C T intron_variant MELA-AU 14 100298670 100298670 single base substitution G A intron_variant MELA-AU 14 100298942 100298942 single base substitution C T intron_variant MELA-AU 14 100299163 100299163 single base substitution C T intron_variant MELA-AU 14 100299645 100299645 single base substitution C T intron_variant MELA-AU 14 100299801 100299801 single base substitution T C intron_variant MELA-AU 14 100299909 100299909 single base substitution G A intron_variant MELA-AU 14 100300178 100300178 single base substitution C T intron_variant MELA-AU 14 100300416 100300416 single base substitution C T intron_variant MELA-AU 14 100300416 100300416 single base substitution C T upstream_gene_variant MELA-AU 14 100300523 100300523 single base substitution C T intron_variant MELA-AU 14 100300523 100300523 single base substitution C T upstream_gene_variant MELA-AU 14 100300555 100300555 single base substitution T C intron_variant MELA-AU 14 100300555 100300555 single base substitution T C upstream_gene_variant MELA-AU 14 100300835 100300835 single base substitution C T intron_variant MELA-AU 14 100300835 100300835 single base substitution C T upstream_gene_variant MELA-AU 14 100301077 100301077 single base substitution G A intron_variant MELA-AU 14 100301077 100301077 single base substitution G A upstream_gene_variant MELA-AU 14 100301191 100301191 single base substitution C T intron_variant MELA-AU 14 100301191 100301191 single base substitution C T upstream_gene_variant MELA-AU 14 100301247 100301247 single base substitution C T intron_variant MELA-AU 14 100301247 100301247 single base substitution C T upstream_gene_variant MELA-AU 14 100301494 100301494 single base substitution A G intron_variant MELA-AU 14 100301494 100301494 single base substitution A G upstream_gene_variant MELA-AU 14 100301665 100301665 single base substitution C T intron_variant MELA-AU 14 100301665 100301665 single base substitution C T upstream_gene_variant MELA-AU 14 100301673 100301673 single base substitution G A intron_variant MELA-AU 14 100301673 100301673 single base substitution G A upstream_gene_variant MELA-AU 14 100301757 100301757 single base substitution C T intron_variant MELA-AU 14 100301757 100301757 single base substitution C T upstream_gene_variant MELA-AU 14 100302030 100302030 single base substitution C T intron_variant MELA-AU 14 100302030 100302030 single base substitution C T upstream_gene_variant MELA-AU 14 100302110 100302110 single base substitution C T intron_variant MELA-AU 14 100302110 100302110 single base substitution C T upstream_gene_variant MELA-AU 14 100302385 100302385 single base substitution C T intron_variant MELA-AU 14 100302385 100302385 single base substitution C T upstream_gene_variant MELA-AU 14 100302658 100302658 single base substitution C T intron_variant MELA-AU 14 100302658 100302658 single base substitution C T upstream_gene_variant MELA-AU 14 100302813 100302813 single base substitution C T intron_variant MELA-AU 14 100302813 100302813 single base substitution C T upstream_gene_variant MELA-AU 14 100303038 100303038 single base substitution C T intron_variant MELA-AU 14 100303038 100303038 single base substitution C T upstream_gene_variant MELA-AU 14 100303148 100303148 single base substitution C T intron_variant MELA-AU 14 100303148 100303148 single base substitution C T upstream_gene_variant MELA-AU 14 100303632 100303632 single base substitution C T intron_variant MELA-AU 14 100303632 100303632 single base substitution C T upstream_gene_variant MELA-AU 14 100303663 100303663 single base substitution C T intron_variant MELA-AU 14 100303663 100303663 single base substitution C T upstream_gene_variant MELA-AU 14 100303680 100303680 single base substitution C T intron_variant MELA-AU 14 100303680 100303680 single base substitution C T upstream_gene_variant MELA-AU 14 100303867 100303867 single base substitution A G intron_variant MELA-AU 14 100303867 100303867 single base substitution A G upstream_gene_variant MELA-AU 14 100304068 100304068 single base substitution G A intron_variant MELA-AU 14 100304068 100304068 single base substitution G A upstream_gene_variant MELA-AU 14 100304104 100304104 single base substitution T A intron_variant MELA-AU 14 100304104 100304104 single base substitution T A upstream_gene_variant MELA-AU 14 100304175 100304176 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100304175 100304176 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 100304271 100304271 single base substitution G A intron_variant MELA-AU 14 100304271 100304271 single base substitution G A upstream_gene_variant MELA-AU 14 100304561 100304561 single base substitution C T intron_variant MELA-AU 14 100304561 100304561 single base substitution C T upstream_gene_variant MELA-AU 14 100304627 100304627 single base substitution A T intron_variant MELA-AU 14 100304627 100304627 single base substitution A T upstream_gene_variant MELA-AU 14 100305239 100305239 single base substitution G A intron_variant MELA-AU 14 100305239 100305239 single base substitution G A upstream_gene_variant MELA-AU 14 100305393 100305393 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100305393 100305393 single base substitution G A intron_variant MELA-AU 14 100305488 100305488 single base substitution C T intron_variant MELA-AU 14 100305879 100305879 single base substitution G A intron_variant MELA-AU 14 100306221 100306221 single base substitution C T intron_variant MELA-AU 14 100306354 100306354 single base substitution C T intron_variant MELA-AU 14 100306433 100306433 single base substitution T G intron_variant MELA-AU 14 100306744 100306744 single base substitution C T intron_variant MELA-AU 14 100306792 100306792 single base substitution C T intron_variant MELA-AU 14 100307104 100307104 single base substitution C T intron_variant MELA-AU 14 100307355 100307355 single base substitution C T intron_variant MELA-AU 14 100307590 100307590 single base substitution C T intron_variant MELA-AU 14 100307743 100307743 single base substitution C T intron_variant MELA-AU 14 100308060 100308060 single base substitution C G intron_variant MELA-AU 14 100308084 100308084 single base substitution C T intron_variant MELA-AU 14 100308155 100308155 single base substitution C T intron_variant MELA-AU 14 100308744 100308744 single base substitution G A intron_variant MELA-AU 14 100308862 100308862 single base substitution G A intron_variant MELA-AU 14 100308997 100308997 single base substitution C T intron_variant MELA-AU 14 100309173 100309173 single base substitution A G intron_variant MELA-AU 14 100309563 100309563 single base substitution G A intron_variant MELA-AU 14 100309719 100309719 single base substitution G A intron_variant MELA-AU 14 100309773 100309773 single base substitution T C intron_variant MELA-AU 14 100309877 100309877 single base substitution C T intron_variant MELA-AU 14 100310079 100310079 single base substitution C T intron_variant MELA-AU 14 100310196 100310196 single base substitution C T intron_variant MELA-AU 14 100311418 100311418 single base substitution G A intron_variant MELA-AU 14 100311619 100311619 single base substitution C T intron_variant MELA-AU 14 100311683 100311683 single base substitution C T intron_variant MELA-AU 14 100311685 100311685 single base substitution C T intron_variant MELA-AU 14 100312112 100312112 single base substitution G A intron_variant MELA-AU 14 100312310 100312311 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100312310 100312311 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 100312515 100312515 single base substitution T C intron_variant MELA-AU 14 100312515 100312515 single base substitution T C upstream_gene_variant MELA-AU 14 100312723 100312723 single base substitution G A intron_variant MELA-AU 14 100312723 100312723 single base substitution G A upstream_gene_variant MELA-AU 14 100313184 100313184 single base substitution A T intron_variant MELA-AU 14 100313184 100313184 single base substitution A T upstream_gene_variant MELA-AU 14 100313400 100313400 single base substitution C T intron_variant MELA-AU 14 100313400 100313400 single base substitution C T upstream_gene_variant MELA-AU 14 100313421 100313421 single base substitution C T intron_variant MELA-AU 14 100313421 100313421 single base substitution C T upstream_gene_variant MELA-AU 14 100313589 100313589 single base substitution T C intron_variant MELA-AU 14 100313589 100313589 single base substitution T C upstream_gene_variant MELA-AU 14 100313718 100313718 single base substitution C T intron_variant MELA-AU 14 100313718 100313718 single base substitution C T upstream_gene_variant MELA-AU 14 100313963 100313963 single base substitution G A intron_variant MELA-AU 14 100313963 100313963 single base substitution G A upstream_gene_variant MELA-AU 14 100313981 100313981 single base substitution C T intron_variant MELA-AU 14 100313981 100313981 single base substitution C T upstream_gene_variant MELA-AU 14 100314080 100314080 single base substitution C T intron_variant MELA-AU 14 100314080 100314080 single base substitution C T upstream_gene_variant MELA-AU 14 100314200 100314200 single base substitution C T intron_variant MELA-AU 14 100314200 100314200 single base substitution C T upstream_gene_variant MELA-AU 14 100314299 100314299 single base substitution C T intron_variant MELA-AU 14 100314299 100314299 single base substitution C T upstream_gene_variant MELA-AU 14 100314376 100314376 single base substitution G A intron_variant MELA-AU 14 100314376 100314376 single base substitution G A upstream_gene_variant MELA-AU 14 100314909 100314909 single base substitution C T intron_variant MELA-AU 14 100314909 100314909 single base substitution C T upstream_gene_variant MELA-AU 14 100315557 100315557 single base substitution G T intron_variant MELA-AU 14 100315557 100315557 single base substitution G T upstream_gene_variant MELA-AU 14 100315644 100315644 single base substitution C T intron_variant MELA-AU 14 100315644 100315644 single base substitution C T upstream_gene_variant MELA-AU 14 100316276 100316276 single base substitution G A intron_variant MELA-AU 14 100316276 100316276 single base substitution G A upstream_gene_variant MELA-AU 14 100316314 100316314 single base substitution G A intron_variant MELA-AU 14 100316314 100316314 single base substitution G A upstream_gene_variant MELA-AU 14 100316368 100316368 single base substitution G A intron_variant MELA-AU 14 100316368 100316368 single base substitution G A upstream_gene_variant MELA-AU 14 100316579 100316579 single base substitution G A 5_prime_UTR_variant MELA-AU 14 100316579 100316579 single base substitution G A intron_variant MELA-AU 14 100316579 100316579 single base substitution G A upstream_gene_variant MELA-AU 14 100317270 100317272 deletion of <=200bp GAC - exon_variant MELA-AU 14 100317270 100317272 deletion of <=200bp GAC - inframe_deletion D19 MELA-AU 14 100317270 100317272 deletion of <=200bp GAC - inframe_deletion D31 MELA-AU 14 100317270 100317272 deletion of <=200bp GAC - inframe_deletion D37 MELA-AU 14 100317270 100317272 deletion of <=200bp GAC - inframe_deletion D50 MELA-AU 14 100317270 100317272 deletion of <=200bp GAC - inframe_deletion D56 MELA-AU 14 100317343 100317343 single base substitution C T exon_variant MELA-AU 14 100317343 100317343 single base substitution C T missense_variant A43V 128C>T MELA-AU 14 100317343 100317343 single base substitution C T missense_variant A55V 164C>T MELA-AU 14 100317343 100317343 single base substitution C T missense_variant A61V 182C>T MELA-AU 14 100317343 100317343 single base substitution C T missense_variant A74V 221C>T MELA-AU 14 100317343 100317343 single base substitution C T missense_variant A80V 239C>T MELA-AU 14 100317480 100317480 single base substitution G A intron_variant MELA-AU 14 100317866 100317866 single base substitution G C intron_variant MELA-AU 14 100318004 100318004 single base substitution C T intron_variant MELA-AU 14 100318456 100318456 single base substitution A T intron_variant MELA-AU 14 100318477 100318477 single base substitution C T intron_variant MELA-AU 14 100318743 100318743 single base substitution G A intron_variant MELA-AU 14 100318783 100318783 single base substitution C T intron_variant MELA-AU 14 100319916 100319916 single base substitution T A intron_variant MELA-AU 14 100320141 100320141 single base substitution G A intron_variant MELA-AU 14 100320419 100320419 single base substitution C A intron_variant MELA-AU 14 100320509 100320509 single base substitution C T intron_variant MELA-AU 14 100320602 100320602 single base substitution C T intron_variant MELA-AU 14 100320818 100320818 single base substitution G A intron_variant MELA-AU 14 100320842 100320842 single base substitution C T intron_variant MELA-AU 14 100320843 100320843 single base substitution C T intron_variant MELA-AU 14 100321328 100321328 single base substitution A C intron_variant MELA-AU 14 100321486 100321486 single base substitution G A intron_variant MELA-AU 14 100321610 100321610 single base substitution G A intron_variant MELA-AU 14 100321803 100321803 single base substitution G A intron_variant MELA-AU 14 100322077 100322077 single base substitution G A intron_variant MELA-AU 14 100322683 100322683 single base substitution A G intron_variant MELA-AU 14 100322706 100322706 single base substitution C T intron_variant MELA-AU 14 100323320 100323320 single base substitution C T intron_variant MELA-AU 14 100323686 100323686 single base substitution C T intron_variant MELA-AU 14 100323724 100323724 single base substitution C T intron_variant MELA-AU 14 100323810 100323810 single base substitution G A intron_variant MELA-AU 14 100323842 100323842 single base substitution C T intron_variant MELA-AU 14 100324213 100324213 single base substitution C T intron_variant MELA-AU 14 100324492 100324492 single base substitution C T intron_variant MELA-AU 14 100324585 100324585 single base substitution G A intron_variant MELA-AU 14 100324682 100324682 single base substitution C T intron_variant MELA-AU 14 100325042 100325042 single base substitution G A intron_variant MELA-AU 14 100325083 100325083 single base substitution C T intron_variant MELA-AU 14 100325613 100325613 single base substitution G A intron_variant MELA-AU 14 100325841 100325841 single base substitution A G intron_variant MELA-AU 14 100325876 100325876 single base substitution G A intron_variant MELA-AU 14 100325944 100325944 single base substitution C T intron_variant MELA-AU 14 100326024 100326024 single base substitution A C intron_variant MELA-AU 14 100326479 100326479 single base substitution C T intron_variant MELA-AU 14 100326503 100326503 single base substitution G A intron_variant MELA-AU 14 100326807 100326807 single base substitution C T intron_variant MELA-AU 14 100326859 100326859 single base substitution C T intron_variant MELA-AU 14 100326865 100326865 single base substitution A G intron_variant MELA-AU 14 100326899 100326899 single base substitution T G intron_variant MELA-AU 14 100326924 100326924 single base substitution G A intron_variant MELA-AU 14 100327145 100327145 single base substitution C T intron_variant MELA-AU 14 100327145 100327145 single base substitution C T upstream_gene_variant MELA-AU 14 100327177 100327177 single base substitution C T intron_variant MELA-AU 14 100327177 100327177 single base substitution C T upstream_gene_variant MELA-AU 14 100327725 100327725 single base substitution T G intron_variant MELA-AU 14 100327725 100327725 single base substitution T G upstream_gene_variant MELA-AU 14 100328219 100328219 single base substitution C T intron_variant MELA-AU 14 100328219 100328219 single base substitution C T upstream_gene_variant MELA-AU 14 100328345 100328345 single base substitution T A intron_variant MELA-AU 14 100328345 100328345 single base substitution T A upstream_gene_variant MELA-AU 14 100328368 100328368 single base substitution G A intron_variant MELA-AU 14 100328368 100328368 single base substitution G A upstream_gene_variant MELA-AU 14 100328426 100328426 single base substitution C T intron_variant MELA-AU 14 100328426 100328426 single base substitution C T upstream_gene_variant MELA-AU 14 100328464 100328464 single base substitution T A intron_variant MELA-AU 14 100328464 100328464 single base substitution T A upstream_gene_variant MELA-AU 14 100328927 100328927 single base substitution T C intron_variant MELA-AU 14 100328927 100328927 single base substitution T C upstream_gene_variant MELA-AU 14 100328980 100328980 single base substitution C T intron_variant MELA-AU 14 100328980 100328980 single base substitution C T upstream_gene_variant MELA-AU 14 100329101 100329101 single base substitution C T intron_variant MELA-AU 14 100329101 100329101 single base substitution C T upstream_gene_variant MELA-AU 14 100329108 100329108 single base substitution C T intron_variant MELA-AU 14 100329108 100329108 single base substitution C T upstream_gene_variant MELA-AU 14 100329181 100329181 single base substitution C T intron_variant MELA-AU 14 100329181 100329181 single base substitution C T upstream_gene_variant MELA-AU 14 100329330 100329330 single base substitution C T intron_variant MELA-AU 14 100329330 100329330 single base substitution C T upstream_gene_variant MELA-AU 14 100329596 100329596 single base substitution C T intron_variant MELA-AU 14 100329596 100329596 single base substitution C T upstream_gene_variant MELA-AU 14 100329901 100329901 single base substitution G C intron_variant MELA-AU 14 100329901 100329901 single base substitution G C upstream_gene_variant MELA-AU 14 100330114 100330114 single base substitution A C intron_variant MELA-AU 14 100330114 100330114 single base substitution A C upstream_gene_variant MELA-AU 14 100330202 100330202 single base substitution G A intron_variant MELA-AU 14 100330202 100330202 single base substitution G A upstream_gene_variant MELA-AU 14 100330557 100330557 single base substitution C T intron_variant MELA-AU 14 100330557 100330557 single base substitution C T upstream_gene_variant MELA-AU 14 100330642 100330642 single base substitution C T intron_variant MELA-AU 14 100330642 100330642 single base substitution C T upstream_gene_variant MELA-AU 14 100330763 100330763 single base substitution G C intron_variant MELA-AU 14 100330763 100330763 single base substitution G C upstream_gene_variant MELA-AU 14 100330934 100330934 single base substitution A T intron_variant MELA-AU 14 100330934 100330934 single base substitution A T upstream_gene_variant MELA-AU 14 100330946 100330946 single base substitution C T intron_variant MELA-AU 14 100330946 100330946 single base substitution C T upstream_gene_variant MELA-AU 14 100331081 100331081 single base substitution C T intron_variant MELA-AU 14 100331081 100331081 single base substitution C T upstream_gene_variant MELA-AU 14 100331314 100331314 single base substitution G A intron_variant MELA-AU 14 100331314 100331314 single base substitution G A upstream_gene_variant MELA-AU 14 100331929 100331929 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100331929 100331929 single base substitution C T exon_variant MELA-AU 14 100331929 100331929 single base substitution C T missense_variant S110F 329C>T MELA-AU 14 100331929 100331929 single base substitution C T missense_variant S116F 347C>T MELA-AU 14 100331929 100331929 single base substitution C T missense_variant S79F 236C>T MELA-AU 14 100331929 100331929 single base substitution C T missense_variant S91F 272C>T MELA-AU 14 100331929 100331929 single base substitution C T missense_variant S97F 290C>T MELA-AU 14 100331929 100331929 single base substitution C T upstream_gene_variant MELA-AU 14 100331954 100331954 single base substitution G A 3_prime_UTR_variant MELA-AU 14 100331954 100331954 single base substitution G A downstream_gene_variant MELA-AU 14 100331954 100331954 single base substitution G A exon_variant MELA-AU 14 100331954 100331954 single base substitution G A synonymous_variant R105R 315G>A MELA-AU 14 100331954 100331954 single base substitution G A synonymous_variant R118R 354G>A MELA-AU 14 100331954 100331954 single base substitution G A synonymous_variant R124R 372G>A MELA-AU 14 100331954 100331954 single base substitution G A synonymous_variant R3R 9G>A MELA-AU 14 100331954 100331954 single base substitution G A synonymous_variant R87R 261G>A MELA-AU 14 100332690 100332690 single base substitution C T downstream_gene_variant MELA-AU 14 100332690 100332690 single base substitution C T intron_variant MELA-AU 14 100333074 100333074 single base substitution C T downstream_gene_variant MELA-AU 14 100333074 100333074 single base substitution C T intron_variant MELA-AU 14 100333619 100333619 single base substitution C T downstream_gene_variant MELA-AU 14 100333619 100333619 single base substitution C T intron_variant MELA-AU 14 100333625 100333625 single base substitution C T downstream_gene_variant MELA-AU 14 100333625 100333625 single base substitution C T intron_variant MELA-AU 14 100333661 100333661 single base substitution C T downstream_gene_variant MELA-AU 14 100333661 100333661 single base substitution C T intron_variant MELA-AU 14 100334063 100334063 single base substitution C T downstream_gene_variant MELA-AU 14 100334063 100334063 single base substitution C T intron_variant MELA-AU 14 100334181 100334181 single base substitution T A downstream_gene_variant MELA-AU 14 100334181 100334181 single base substitution T A intron_variant MELA-AU 14 100334514 100334514 single base substitution T G downstream_gene_variant MELA-AU 14 100334514 100334514 single base substitution T G intron_variant MELA-AU 14 100334604 100334604 single base substitution C T downstream_gene_variant MELA-AU 14 100334604 100334604 single base substitution C T intron_variant MELA-AU 14 100334619 100334619 single base substitution C T downstream_gene_variant MELA-AU 14 100334619 100334619 single base substitution C T intron_variant MELA-AU 14 100334918 100334918 single base substitution C T downstream_gene_variant MELA-AU 14 100334918 100334918 single base substitution C T intron_variant MELA-AU 14 100334985 100334985 single base substitution C G downstream_gene_variant MELA-AU 14 100334985 100334985 single base substitution C G intron_variant MELA-AU 14 100335083 100335083 single base substitution A T downstream_gene_variant MELA-AU 14 100335083 100335083 single base substitution A T intron_variant MELA-AU 14 100335117 100335117 single base substitution C T downstream_gene_variant MELA-AU 14 100335117 100335117 single base substitution C T intron_variant MELA-AU 14 100335172 100335172 single base substitution C T downstream_gene_variant MELA-AU 14 100335172 100335172 single base substitution C T intron_variant MELA-AU 14 100335219 100335219 single base substitution G A downstream_gene_variant MELA-AU 14 100335219 100335219 single base substitution G A intron_variant MELA-AU 14 100335494 100335494 single base substitution A G downstream_gene_variant MELA-AU 14 100335494 100335494 single base substitution A G intron_variant MELA-AU 14 100335639 100335639 single base substitution G A downstream_gene_variant MELA-AU 14 100335639 100335639 single base substitution G A intron_variant MELA-AU 14 100335658 100335658 single base substitution G A downstream_gene_variant MELA-AU 14 100335658 100335658 single base substitution G A intron_variant MELA-AU 14 100335756 100335756 single base substitution C T downstream_gene_variant MELA-AU 14 100335756 100335756 single base substitution C T intron_variant MELA-AU 14 100335772 100335772 single base substitution C T downstream_gene_variant MELA-AU 14 100335772 100335772 single base substitution C T intron_variant MELA-AU 14 100335808 100335808 single base substitution C T downstream_gene_variant MELA-AU 14 100335808 100335808 single base substitution C T intron_variant MELA-AU 14 100335934 100335934 single base substitution G A downstream_gene_variant MELA-AU 14 100335934 100335934 single base substitution G A intron_variant MELA-AU 14 100336392 100336392 single base substitution C T downstream_gene_variant MELA-AU 14 100336392 100336392 single base substitution C T intron_variant MELA-AU 14 100336515 100336515 single base substitution G A downstream_gene_variant MELA-AU 14 100336515 100336515 single base substitution G A intron_variant MELA-AU 14 100336587 100336587 single base substitution G A downstream_gene_variant MELA-AU 14 100336587 100336587 single base substitution G A intron_variant MELA-AU 14 100336909 100336909 single base substitution C T downstream_gene_variant MELA-AU 14 100336909 100336909 single base substitution C T intron_variant MELA-AU 14 100336974 100336974 single base substitution C T intron_variant MELA-AU 14 100336988 100336988 single base substitution A G intron_variant MELA-AU 14 100337185 100337185 single base substitution G A intron_variant MELA-AU 14 100337403 100337403 single base substitution C T intron_variant MELA-AU 14 100337516 100337516 single base substitution G A intron_variant MELA-AU 14 100337666 100337666 single base substitution G A intron_variant MELA-AU 14 100337725 100337725 single base substitution C T intron_variant MELA-AU 14 100337949 100337949 single base substitution G A intron_variant MELA-AU 14 100338029 100338029 single base substitution G A intron_variant MELA-AU 14 100338328 100338328 single base substitution C T intron_variant MELA-AU 14 100338382 100338382 single base substitution T G intron_variant MELA-AU 14 100338794 100338794 single base substitution C T intron_variant MELA-AU 14 100338807 100338807 single base substitution G A intron_variant MELA-AU 14 100338939 100338939 single base substitution C T intron_variant MELA-AU 14 100338961 100338961 single base substitution C T intron_variant MELA-AU 14 100338976 100338976 single base substitution C T intron_variant MELA-AU 14 100338982 100338982 single base substitution C T intron_variant MELA-AU 14 100339262 100339262 single base substitution C A intron_variant MELA-AU 14 100339536 100339536 single base substitution G A intron_variant MELA-AU 14 100339786 100339786 single base substitution A T intron_variant MELA-AU 14 100340023 100340023 single base substitution C T intron_variant MELA-AU 14 100340087 100340087 single base substitution T G intron_variant MELA-AU 14 100340402 100340402 single base substitution G A intron_variant MELA-AU 14 100340523 100340523 single base substitution C T intron_variant MELA-AU 14 100340571 100340571 single base substitution T G intron_variant MELA-AU 14 100340871 100340871 single base substitution G A intron_variant MELA-AU 14 100340958 100340958 single base substitution C T intron_variant MELA-AU 14 100341315 100341315 single base substitution C T intron_variant MELA-AU 14 100341315 100341315 single base substitution C T missense_variant S113L 338C>T MELA-AU 14 100341315 100341315 single base substitution C T missense_variant S131L 392C>T MELA-AU 14 100341315 100341315 single base substitution C T missense_variant S144L 431C>T MELA-AU 14 100341369 100341369 single base substitution C T intron_variant MELA-AU 14 100341429 100341429 single base substitution C T intron_variant MELA-AU 14 100341637 100341637 single base substitution C T intron_variant MELA-AU 14 100342591 100342591 single base substitution A T intron_variant MELA-AU 14 100342695 100342695 single base substitution G A intron_variant MELA-AU 14 100342885 100342885 single base substitution G A intron_variant MELA-AU 14 100342896 100342896 single base substitution C T intron_variant MELA-AU 14 100343091 100343091 single base substitution C T intron_variant MELA-AU 14 100343112 100343112 single base substitution C T intron_variant MELA-AU 14 100343203 100343203 single base substitution C T intron_variant MELA-AU 14 100343370 100343370 single base substitution G A intron_variant MELA-AU 14 100343681 100343681 single base substitution G A intron_variant MELA-AU 14 100343863 100343863 single base substitution G A intron_variant MELA-AU 14 100343869 100343869 single base substitution C T intron_variant MELA-AU 14 100343889 100343889 single base substitution C T intron_variant MELA-AU 14 100343996 100343996 single base substitution G A intron_variant MELA-AU 14 100344157 100344157 single base substitution C T intron_variant MELA-AU 14 100344397 100344397 single base substitution T A intron_variant MELA-AU 14 100344409 100344409 single base substitution C T intron_variant MELA-AU 14 100344419 100344419 single base substitution C T intron_variant MELA-AU 14 100344539 100344539 single base substitution C T intron_variant MELA-AU 14 100344576 100344576 single base substitution G A intron_variant MELA-AU 14 100344675 100344675 single base substitution C T intron_variant MELA-AU 14 100344868 100344868 single base substitution C T downstream_gene_variant MELA-AU 14 100344868 100344868 single base substitution C T exon_variant MELA-AU 14 100344868 100344868 single base substitution C T stop_gained R113* 337C>T MELA-AU 14 100344868 100344868 single base substitution C T stop_gained R131* 391C>T MELA-AU 14 100344868 100344868 single base substitution C T stop_gained R132* 394C>T MELA-AU 14 100344868 100344868 single base substitution C T stop_gained R144* 430C>T MELA-AU 14 100344868 100344868 single base substitution C T stop_gained R150* 448C>T MELA-AU 14 100344868 100344868 single base substitution C T stop_gained R163* 487C>T MELA-AU 14 100344868 100344868 single base substitution C T stop_gained R29* 85C>T MELA-AU 14 100345013 100345013 single base substitution C T downstream_gene_variant MELA-AU 14 100345013 100345013 single base substitution C T intron_variant MELA-AU 14 100345159 100345159 single base substitution C T downstream_gene_variant MELA-AU 14 100345159 100345159 single base substitution C T intron_variant MELA-AU 14 100345784 100345784 single base substitution C T downstream_gene_variant MELA-AU 14 100345784 100345784 single base substitution C T intron_variant MELA-AU 14 100346276 100346276 single base substitution G A downstream_gene_variant MELA-AU 14 100346276 100346276 single base substitution G A intron_variant MELA-AU 14 100346658 100346658 single base substitution C T downstream_gene_variant MELA-AU 14 100346658 100346658 single base substitution C T intron_variant MELA-AU 14 100346727 100346727 single base substitution C T downstream_gene_variant MELA-AU 14 100346727 100346727 single base substitution C T intron_variant MELA-AU 14 100347062 100347062 single base substitution G A downstream_gene_variant MELA-AU 14 100347062 100347062 single base substitution G A intron_variant MELA-AU 14 100347235 100347235 single base substitution C T downstream_gene_variant MELA-AU 14 100347235 100347235 single base substitution C T intron_variant MELA-AU 14 100347377 100347377 single base substitution G T downstream_gene_variant MELA-AU 14 100347377 100347377 single base substitution G T intron_variant MELA-AU 14 100347495 100347495 single base substitution T A downstream_gene_variant MELA-AU 14 100347495 100347495 single base substitution T A intron_variant MELA-AU 14 100347532 100347532 single base substitution G A downstream_gene_variant MELA-AU 14 100347532 100347532 single base substitution G A intron_variant MELA-AU 14 100347728 100347728 single base substitution C T downstream_gene_variant MELA-AU 14 100347728 100347728 single base substitution C T intron_variant MELA-AU 14 100347754 100347754 single base substitution C A downstream_gene_variant MELA-AU 14 100347754 100347754 single base substitution C A intron_variant MELA-AU 14 100348006 100348006 single base substitution C T downstream_gene_variant MELA-AU 14 100348006 100348006 single base substitution C T intron_variant MELA-AU 14 100348235 100348235 single base substitution C T downstream_gene_variant MELA-AU 14 100348235 100348235 single base substitution C T intron_variant MELA-AU 14 100348414 100348414 single base substitution C T downstream_gene_variant MELA-AU 14 100348414 100348414 single base substitution C T intron_variant MELA-AU 14 100348822 100348822 single base substitution G A downstream_gene_variant MELA-AU 14 100348822 100348822 single base substitution G A intron_variant MELA-AU 14 100348919 100348919 single base substitution C T downstream_gene_variant MELA-AU 14 100348919 100348919 single base substitution C T intron_variant MELA-AU 14 100348920 100348920 single base substitution C T downstream_gene_variant MELA-AU 14 100348920 100348920 single base substitution C T intron_variant MELA-AU 14 100349189 100349189 single base substitution G A downstream_gene_variant MELA-AU 14 100349189 100349189 single base substitution G A intron_variant MELA-AU 14 100349246 100349246 single base substitution G A downstream_gene_variant MELA-AU 14 100349246 100349246 single base substitution G A intron_variant MELA-AU 14 100349358 100349358 single base substitution C T downstream_gene_variant MELA-AU 14 100349358 100349358 single base substitution C T intron_variant MELA-AU 14 100349484 100349484 single base substitution C G downstream_gene_variant MELA-AU 14 100349484 100349484 single base substitution C G intron_variant MELA-AU 14 100349643 100349643 single base substitution G A downstream_gene_variant MELA-AU 14 100349643 100349643 single base substitution G A exon_variant MELA-AU 14 100349643 100349643 single base substitution G A intron_variant MELA-AU 14 100349837 100349837 single base substitution C A downstream_gene_variant MELA-AU 14 100349837 100349837 single base substitution C A exon_variant MELA-AU 14 100349837 100349837 single base substitution C A intron_variant MELA-AU 14 100350282 100350282 single base substitution C T downstream_gene_variant MELA-AU 14 100350282 100350282 single base substitution C T intron_variant MELA-AU 14 100350449 100350449 single base substitution C T downstream_gene_variant MELA-AU 14 100350449 100350449 single base substitution C T intron_variant MELA-AU 14 100350790 100350790 single base substitution G A downstream_gene_variant MELA-AU 14 100350790 100350790 single base substitution G A intron_variant MELA-AU 14 100351198 100351198 single base substitution G A downstream_gene_variant MELA-AU 14 100351198 100351198 single base substitution G A intron_variant MELA-AU 14 100352567 100352567 single base substitution C T downstream_gene_variant MELA-AU 14 100352567 100352567 single base substitution C T intron_variant MELA-AU 14 100352616 100352616 single base substitution T G downstream_gene_variant MELA-AU 14 100352616 100352616 single base substitution T G intron_variant MELA-AU 14 100352992 100352992 single base substitution G A downstream_gene_variant MELA-AU 14 100352992 100352992 single base substitution G A intron_variant MELA-AU 14 100353079 100353079 single base substitution G A downstream_gene_variant MELA-AU 14 100353079 100353079 single base substitution G A intron_variant MELA-AU 14 100353131 100353131 single base substitution G A downstream_gene_variant MELA-AU 14 100353131 100353131 single base substitution G A intron_variant MELA-AU 14 100353267 100353267 single base substitution C T downstream_gene_variant MELA-AU 14 100353267 100353267 single base substitution C T intron_variant MELA-AU 14 100353441 100353441 single base substitution C T downstream_gene_variant MELA-AU 14 100353441 100353441 single base substitution C T intron_variant MELA-AU 14 100353599 100353599 single base substitution C T downstream_gene_variant MELA-AU 14 100353599 100353599 single base substitution C T intron_variant MELA-AU 14 100353734 100353735 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 100353734 100353735 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100353798 100353798 single base substitution G A downstream_gene_variant MELA-AU 14 100353798 100353798 single base substitution G A intron_variant MELA-AU 14 100354377 100354377 single base substitution A C downstream_gene_variant MELA-AU 14 100354377 100354377 single base substitution A C intron_variant MELA-AU 14 100354651 100354651 single base substitution C T downstream_gene_variant MELA-AU 14 100354651 100354651 single base substitution C T intron_variant MELA-AU 14 100354882 100354882 single base substitution C T downstream_gene_variant MELA-AU 14 100354882 100354882 single base substitution C T intron_variant MELA-AU 14 100354917 100354917 single base substitution T C downstream_gene_variant MELA-AU 14 100354917 100354917 single base substitution T C intron_variant MELA-AU 14 100355028 100355028 single base substitution A G downstream_gene_variant MELA-AU 14 100355028 100355028 single base substitution A G intron_variant MELA-AU 14 100355182 100355182 single base substitution G A downstream_gene_variant MELA-AU 14 100355182 100355182 single base substitution G A intron_variant MELA-AU 14 100355456 100355456 single base substitution G A downstream_gene_variant MELA-AU 14 100355456 100355456 single base substitution G A intron_variant MELA-AU 14 100355652 100355652 single base substitution C T downstream_gene_variant MELA-AU 14 100355652 100355652 single base substitution C T intron_variant MELA-AU 14 100355929 100355929 single base substitution C T downstream_gene_variant MELA-AU 14 100355929 100355929 single base substitution C T intron_variant MELA-AU 14 100355929 100355929 single base substitution C T upstream_gene_variant MELA-AU 14 100356062 100356062 single base substitution G A downstream_gene_variant MELA-AU 14 100356062 100356062 single base substitution G A intron_variant MELA-AU 14 100356062 100356062 single base substitution G A upstream_gene_variant MELA-AU 14 100356502 100356502 single base substitution T C downstream_gene_variant MELA-AU 14 100356502 100356502 single base substitution T C intron_variant MELA-AU 14 100356502 100356502 single base substitution T C upstream_gene_variant MELA-AU 14 100356685 100356685 single base substitution C T downstream_gene_variant MELA-AU 14 100356685 100356685 single base substitution C T intron_variant MELA-AU 14 100356685 100356685 single base substitution C T upstream_gene_variant MELA-AU 14 100356694 100356694 single base substitution C T downstream_gene_variant MELA-AU 14 100356694 100356694 single base substitution C T intron_variant MELA-AU 14 100356694 100356694 single base substitution C T upstream_gene_variant MELA-AU 14 100356809 100356809 single base substitution C G downstream_gene_variant MELA-AU 14 100356809 100356809 single base substitution C G intron_variant MELA-AU 14 100356809 100356809 single base substitution C G upstream_gene_variant MELA-AU 14 100356960 100356960 single base substitution G A downstream_gene_variant MELA-AU 14 100356960 100356960 single base substitution G A intron_variant MELA-AU 14 100356960 100356960 single base substitution G A upstream_gene_variant MELA-AU 14 100356970 100356970 single base substitution G A downstream_gene_variant MELA-AU 14 100356970 100356970 single base substitution G A intron_variant MELA-AU 14 100356970 100356970 single base substitution G A upstream_gene_variant MELA-AU 14 100357050 100357050 single base substitution C T downstream_gene_variant MELA-AU 14 100357050 100357050 single base substitution C T intron_variant MELA-AU 14 100357050 100357050 single base substitution C T upstream_gene_variant MELA-AU 14 100357124 100357124 single base substitution G A downstream_gene_variant MELA-AU 14 100357124 100357124 single base substitution G A intron_variant MELA-AU 14 100357124 100357124 single base substitution G A upstream_gene_variant MELA-AU 14 100357521 100357521 single base substitution C T intron_variant MELA-AU 14 100357521 100357521 single base substitution C T upstream_gene_variant MELA-AU 14 100357788 100357788 single base substitution C T intron_variant MELA-AU 14 100357788 100357788 single base substitution C T upstream_gene_variant MELA-AU 14 100357949 100357949 single base substitution C T intron_variant MELA-AU 14 100357949 100357949 single base substitution C T upstream_gene_variant MELA-AU 14 100358568 100358568 single base substitution G A intron_variant MELA-AU 14 100358568 100358568 single base substitution G A upstream_gene_variant MELA-AU 14 100358811 100358811 single base substitution A T intron_variant MELA-AU 14 100358811 100358811 single base substitution A T upstream_gene_variant MELA-AU 14 100358820 100358820 single base substitution T G intron_variant MELA-AU 14 100358820 100358820 single base substitution T G upstream_gene_variant MELA-AU 14 100359466 100359466 single base substitution C T intron_variant MELA-AU 14 100359466 100359466 single base substitution C T upstream_gene_variant MELA-AU 14 100359545 100359545 single base substitution G A intron_variant MELA-AU 14 100359545 100359545 single base substitution G A upstream_gene_variant MELA-AU 14 100359878 100359878 single base substitution G A intron_variant MELA-AU 14 100359878 100359878 single base substitution G A upstream_gene_variant MELA-AU 14 100360053 100360053 single base substitution C T intron_variant MELA-AU 14 100360053 100360053 single base substitution C T upstream_gene_variant MELA-AU 14 100360230 100360230 single base substitution G A intron_variant MELA-AU 14 100360230 100360230 single base substitution G A upstream_gene_variant MELA-AU 14 100360281 100360281 single base substitution C T intron_variant MELA-AU 14 100360281 100360281 single base substitution C T upstream_gene_variant MELA-AU 14 100360286 100360286 single base substitution G A intron_variant MELA-AU 14 100360286 100360286 single base substitution G A upstream_gene_variant MELA-AU 14 100360650 100360650 single base substitution C T intron_variant MELA-AU 14 100360650 100360650 single base substitution C T upstream_gene_variant MELA-AU 14 100360854 100360854 single base substitution C T exon_variant MELA-AU 14 100360854 100360854 single base substitution C T intron_variant MELA-AU 14 100360854 100360854 single base substitution C T upstream_gene_variant MELA-AU 14 100361341 100361341 single base substitution G A intron_variant MELA-AU 14 100361341 100361341 single base substitution G A upstream_gene_variant MELA-AU 14 100361476 100361476 single base substitution T C intron_variant MELA-AU 14 100361476 100361476 single base substitution T C upstream_gene_variant MELA-AU 14 100362168 100362168 single base substitution G A intron_variant MELA-AU 14 100362168 100362168 single base substitution G A upstream_gene_variant MELA-AU 14 100362184 100362184 single base substitution C T intron_variant MELA-AU 14 100362184 100362184 single base substitution C T upstream_gene_variant MELA-AU 14 100362371 100362371 single base substitution A G intron_variant MELA-AU 14 100362371 100362371 single base substitution A G upstream_gene_variant MELA-AU 14 100362497 100362497 single base substitution G A intron_variant MELA-AU 14 100362497 100362497 single base substitution G A upstream_gene_variant MELA-AU 14 100362617 100362617 single base substitution A T intron_variant MELA-AU 14 100362617 100362617 single base substitution A T upstream_gene_variant MELA-AU 14 100363445 100363445 single base substitution T C intron_variant MELA-AU 14 100363445 100363445 single base substitution T C upstream_gene_variant MELA-AU 14 100363448 100363448 single base substitution A T intron_variant MELA-AU 14 100363448 100363448 single base substitution A T upstream_gene_variant MELA-AU 14 100363475 100363475 single base substitution C T splice_region_variant MELA-AU 14 100363475 100363475 single base substitution C T upstream_gene_variant MELA-AU 14 100363909 100363909 single base substitution C T intron_variant MELA-AU 14 100363909 100363909 single base substitution C T upstream_gene_variant MELA-AU 14 100363937 100363937 single base substitution C T intron_variant MELA-AU 14 100363937 100363937 single base substitution C T upstream_gene_variant MELA-AU 14 100364155 100364155 single base substitution G A intron_variant MELA-AU 14 100364155 100364155 single base substitution G A upstream_gene_variant MELA-AU 14 100364336 100364336 single base substitution G A intron_variant MELA-AU 14 100364336 100364336 single base substitution G A upstream_gene_variant MELA-AU 14 100364591 100364591 single base substitution G A exon_variant MELA-AU 14 100364591 100364591 single base substitution G A synonymous_variant R252R 756G>A MELA-AU 14 100364591 100364591 single base substitution G A synonymous_variant R270R 810G>A MELA-AU 14 100364591 100364591 single base substitution G A synonymous_variant R271R 813G>A MELA-AU 14 100364591 100364591 single base substitution G A synonymous_variant R283R 849G>A MELA-AU 14 100364591 100364591 single base substitution G A synonymous_variant R302R 906G>A MELA-AU 14 100364591 100364591 single base substitution G A synonymous_variant R7R 21G>A MELA-AU 14 100364591 100364591 single base substitution G A upstream_gene_variant MELA-AU 14 100364673 100364673 single base substitution G A intron_variant MELA-AU 14 100364673 100364673 single base substitution G A upstream_gene_variant MELA-AU 14 100364798 100364798 single base substitution T C intron_variant MELA-AU 14 100364798 100364798 single base substitution T C upstream_gene_variant MELA-AU 14 100364998 100364998 single base substitution A T intron_variant MELA-AU 14 100364998 100364998 single base substitution A T upstream_gene_variant MELA-AU 14 100365058 100365058 single base substitution C T intron_variant MELA-AU 14 100365058 100365058 single base substitution C T upstream_gene_variant MELA-AU 14 100365129 100365129 single base substitution C T intron_variant MELA-AU 14 100365129 100365129 single base substitution C T upstream_gene_variant MELA-AU 14 100365189 100365189 single base substitution C T intron_variant MELA-AU 14 100365189 100365189 single base substitution C T upstream_gene_variant MELA-AU 14 100365369 100365369 single base substitution T A intron_variant MELA-AU 14 100365369 100365369 single base substitution T A upstream_gene_variant MELA-AU 14 100365370 100365370 single base substitution C T intron_variant MELA-AU 14 100365370 100365370 single base substitution C T upstream_gene_variant MELA-AU 14 100365541 100365541 single base substitution T A intron_variant MELA-AU 14 100365541 100365541 single base substitution T A upstream_gene_variant MELA-AU 14 100366076 100366076 single base substitution G C intron_variant MELA-AU 14 100366121 100366121 single base substitution C T intron_variant MELA-AU 14 100366441 100366441 single base substitution G A intron_variant MELA-AU 14 100366575 100366575 single base substitution G A intron_variant MELA-AU 14 100366634 100366634 single base substitution C T intron_variant MELA-AU 14 100366685 100366685 single base substitution C T intron_variant MELA-AU 14 100366875 100366875 single base substitution G A intron_variant MELA-AU 14 100366942 100366942 single base substitution C T intron_variant MELA-AU 14 100366999 100366999 single base substitution C T intron_variant MELA-AU 14 100367049 100367049 single base substitution A C intron_variant MELA-AU 14 100367227 100367227 single base substitution C T intron_variant MELA-AU 14 100367289 100367289 single base substitution C T exon_variant MELA-AU 14 100367289 100367289 single base substitution C T synonymous_variant I276I 828C>T MELA-AU 14 100367289 100367289 single base substitution C T synonymous_variant I294I 882C>T MELA-AU 14 100367289 100367289 single base substitution C T synonymous_variant I295I 885C>T MELA-AU 14 100367289 100367289 single base substitution C T synonymous_variant I307I 921C>T MELA-AU 14 100367289 100367289 single base substitution C T synonymous_variant I31I 93C>T MELA-AU 14 100367289 100367289 single base substitution C T synonymous_variant I326I 978C>T MELA-AU 14 100367362 100367362 single base substitution G T downstream_gene_variant MELA-AU 14 100367362 100367362 single base substitution G T exon_variant MELA-AU 14 100367362 100367362 single base substitution G T missense_variant A319S 955G>T MELA-AU 14 100367362 100367362 single base substitution G T missense_variant A320S 958G>T MELA-AU 14 100367362 100367362 single base substitution G T missense_variant A332S 994G>T MELA-AU 14 100367362 100367362 single base substitution G T missense_variant A351S 1051G>T MELA-AU 14 100367362 100367362 single base substitution G T missense_variant A56S 166G>T MELA-AU 14 100367449 100367449 single base substitution G A downstream_gene_variant MELA-AU 14 100367449 100367449 single base substitution G A intron_variant MELA-AU 14 100367747 100367747 single base substitution G A downstream_gene_variant MELA-AU 14 100367747 100367747 single base substitution G A intron_variant MELA-AU 14 100367751 100367751 single base substitution C T downstream_gene_variant MELA-AU 14 100367751 100367751 single base substitution C T intron_variant MELA-AU 14 100367763 100367763 single base substitution G A downstream_gene_variant MELA-AU 14 100367763 100367763 single base substitution G A intron_variant MELA-AU 14 100367861 100367861 single base substitution C T downstream_gene_variant MELA-AU 14 100367861 100367861 single base substitution C T intron_variant MELA-AU 14 100367952 100367952 single base substitution C T downstream_gene_variant MELA-AU 14 100367952 100367952 single base substitution C T intron_variant MELA-AU 14 100367954 100367954 single base substitution T G downstream_gene_variant MELA-AU 14 100367954 100367954 single base substitution T G intron_variant MELA-AU 14 100368069 100368069 single base substitution G A downstream_gene_variant MELA-AU 14 100368069 100368069 single base substitution G A intron_variant MELA-AU 14 100368229 100368229 single base substitution C T downstream_gene_variant MELA-AU 14 100368229 100368229 single base substitution C T intron_variant MELA-AU 14 100368229 100368229 single base substitution C T upstream_gene_variant MELA-AU 14 100368376 100368376 single base substitution A C downstream_gene_variant MELA-AU 14 100368376 100368376 single base substitution A C intron_variant MELA-AU 14 100368376 100368376 single base substitution A C upstream_gene_variant MELA-AU 14 100368789 100368789 single base substitution G A downstream_gene_variant MELA-AU 14 100368789 100368789 single base substitution G A intron_variant MELA-AU 14 100368789 100368789 single base substitution G A upstream_gene_variant MELA-AU 14 100369012 100369012 single base substitution C T downstream_gene_variant MELA-AU 14 100369012 100369012 single base substitution C T intron_variant MELA-AU 14 100369012 100369012 single base substitution C T upstream_gene_variant MELA-AU 14 100369071 100369071 single base substitution C T downstream_gene_variant MELA-AU 14 100369071 100369071 single base substitution C T intron_variant MELA-AU 14 100369071 100369071 single base substitution C T upstream_gene_variant MELA-AU 14 100369106 100369106 single base substitution C T downstream_gene_variant MELA-AU 14 100369106 100369106 single base substitution C T intron_variant MELA-AU 14 100369106 100369106 single base substitution C T upstream_gene_variant MELA-AU 14 100369224 100369224 single base substitution C T downstream_gene_variant MELA-AU 14 100369224 100369224 single base substitution C T intron_variant MELA-AU 14 100369224 100369224 single base substitution C T upstream_gene_variant MELA-AU 14 100369307 100369307 single base substitution T C downstream_gene_variant MELA-AU 14 100369307 100369307 single base substitution T C intron_variant MELA-AU 14 100369307 100369307 single base substitution T C upstream_gene_variant MELA-AU 14 100369352 100369352 single base substitution A T downstream_gene_variant MELA-AU 14 100369352 100369352 single base substitution A T intron_variant MELA-AU 14 100369352 100369352 single base substitution A T upstream_gene_variant MELA-AU 14 100369420 100369420 single base substitution C T downstream_gene_variant MELA-AU 14 100369420 100369420 single base substitution C T intron_variant MELA-AU 14 100369420 100369420 single base substitution C T upstream_gene_variant MELA-AU 14 100369505 100369505 single base substitution G A downstream_gene_variant MELA-AU 14 100369505 100369505 single base substitution G A intron_variant MELA-AU 14 100369505 100369505 single base substitution G A upstream_gene_variant MELA-AU 14 100369743 100369743 single base substitution C T downstream_gene_variant MELA-AU 14 100369743 100369743 single base substitution C T intron_variant MELA-AU 14 100369743 100369743 single base substitution C T upstream_gene_variant MELA-AU 14 100369846 100369846 single base substitution G A downstream_gene_variant MELA-AU 14 100369846 100369846 single base substitution G A intron_variant MELA-AU 14 100369846 100369846 single base substitution G A upstream_gene_variant MELA-AU 14 100369896 100369896 single base substitution C T downstream_gene_variant MELA-AU 14 100369896 100369896 single base substitution C T intron_variant MELA-AU 14 100369896 100369896 single base substitution C T upstream_gene_variant MELA-AU 14 100370211 100370211 single base substitution C T downstream_gene_variant MELA-AU 14 100370211 100370211 single base substitution C T intron_variant MELA-AU 14 100370211 100370211 single base substitution C T upstream_gene_variant MELA-AU 14 100370242 100370242 single base substitution C T downstream_gene_variant MELA-AU 14 100370242 100370242 single base substitution C T intron_variant MELA-AU 14 100370242 100370242 single base substitution C T upstream_gene_variant MELA-AU 14 100370477 100370477 single base substitution T C downstream_gene_variant MELA-AU 14 100370477 100370477 single base substitution T C intron_variant MELA-AU 14 100370477 100370477 single base substitution T C upstream_gene_variant MELA-AU 14 100370482 100370482 single base substitution C T downstream_gene_variant MELA-AU 14 100370482 100370482 single base substitution C T intron_variant MELA-AU 14 100370482 100370482 single base substitution C T upstream_gene_variant MELA-AU 14 100370642 100370642 single base substitution C T downstream_gene_variant MELA-AU 14 100370642 100370642 single base substitution C T intron_variant MELA-AU 14 100370642 100370642 single base substitution C T upstream_gene_variant MELA-AU 14 100370826 100370826 single base substitution C T downstream_gene_variant MELA-AU 14 100370826 100370826 single base substitution C T intron_variant MELA-AU 14 100370826 100370826 single base substitution C T upstream_gene_variant MELA-AU 14 100370836 100370836 single base substitution G A downstream_gene_variant MELA-AU 14 100370836 100370836 single base substitution G A intron_variant MELA-AU 14 100370836 100370836 single base substitution G A upstream_gene_variant MELA-AU 14 100371298 100371298 single base substitution C T downstream_gene_variant MELA-AU 14 100371298 100371298 single base substitution C T intron_variant MELA-AU 14 100371298 100371298 single base substitution C T upstream_gene_variant MELA-AU 14 100371307 100371307 single base substitution C T downstream_gene_variant MELA-AU 14 100371307 100371307 single base substitution C T intron_variant MELA-AU 14 100371307 100371307 single base substitution C T upstream_gene_variant MELA-AU 14 100371397 100371397 single base substitution G A downstream_gene_variant MELA-AU 14 100371397 100371397 single base substitution G A intron_variant MELA-AU 14 100371397 100371397 single base substitution G A upstream_gene_variant MELA-AU 14 100371459 100371459 single base substitution C T downstream_gene_variant MELA-AU 14 100371459 100371459 single base substitution C T intron_variant MELA-AU 14 100371459 100371459 single base substitution C T upstream_gene_variant MELA-AU 14 100371465 100371465 single base substitution C T downstream_gene_variant MELA-AU 14 100371465 100371465 single base substitution C T intron_variant MELA-AU 14 100371465 100371465 single base substitution C T upstream_gene_variant MELA-AU 14 100371532 100371532 single base substitution G A downstream_gene_variant MELA-AU 14 100371532 100371532 single base substitution G A intron_variant MELA-AU 14 100371532 100371532 single base substitution G A upstream_gene_variant MELA-AU 14 100372109 100372109 single base substitution C T downstream_gene_variant MELA-AU 14 100372109 100372109 single base substitution C T intron_variant MELA-AU 14 100372109 100372109 single base substitution C T upstream_gene_variant MELA-AU 14 100372244 100372244 single base substitution C T downstream_gene_variant MELA-AU 14 100372244 100372244 single base substitution C T intron_variant MELA-AU 14 100372244 100372244 single base substitution C T upstream_gene_variant MELA-AU 14 100372285 100372285 single base substitution C T downstream_gene_variant MELA-AU 14 100372285 100372285 single base substitution C T intron_variant MELA-AU 14 100372285 100372285 single base substitution C T upstream_gene_variant MELA-AU 14 100372342 100372342 single base substitution C T intron_variant MELA-AU 14 100372342 100372342 single base substitution C T upstream_gene_variant MELA-AU 14 100372343 100372343 single base substitution C T intron_variant MELA-AU 14 100372343 100372343 single base substitution C T upstream_gene_variant MELA-AU 14 100372492 100372493 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100372492 100372493 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 100372540 100372540 single base substitution C T intron_variant MELA-AU 14 100372540 100372540 single base substitution C T upstream_gene_variant MELA-AU 14 100372709 100372709 single base substitution C T intron_variant MELA-AU 14 100372709 100372709 single base substitution C T upstream_gene_variant MELA-AU 14 100373253 100373253 single base substitution G A exon_variant MELA-AU 14 100373253 100373253 single base substitution G A intron_variant MELA-AU 14 100373425 100373425 single base substitution C T exon_variant MELA-AU 14 100373425 100373425 single base substitution C T intron_variant MELA-AU 14 100373621 100373621 single base substitution G A exon_variant MELA-AU 14 100373621 100373621 single base substitution G A intron_variant MELA-AU 14 100373637 100373637 single base substitution C A exon_variant MELA-AU 14 100373637 100373637 single base substitution C A intron_variant MELA-AU 14 100373798 100373798 single base substitution C T exon_variant MELA-AU 14 100373798 100373798 single base substitution C T intron_variant MELA-AU 14 100374083 100374083 single base substitution G A intron_variant MELA-AU 14 100374162 100374163 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100374268 100374268 single base substitution T A intron_variant MELA-AU 14 100374305 100374305 single base substitution C T intron_variant MELA-AU 14 100374400 100374400 single base substitution C T intron_variant MELA-AU 14 100374587 100374587 single base substitution C T intron_variant MELA-AU 14 100374628 100374628 single base substitution C T intron_variant MELA-AU 14 100374825 100374825 single base substitution C T intron_variant MELA-AU 14 100374844 100374844 single base substitution C T intron_variant MELA-AU 14 100375012 100375012 single base substitution C G intron_variant MELA-AU 14 100375236 100375236 single base substitution G A intron_variant MELA-AU 14 100375442 100375442 single base substitution T C intron_variant MELA-AU 14 100375666 100375666 single base substitution C T exon_variant MELA-AU 14 100375666 100375666 single base substitution C T intron_variant MELA-AU 14 100375675 100375675 single base substitution C T exon_variant MELA-AU 14 100375675 100375675 single base substitution C T intron_variant MELA-AU 14 100375675 100375675 single base substitution C T splice_region_variant MELA-AU 14 100375854 100375854 single base substitution C T downstream_gene_variant MELA-AU 14 100375854 100375854 single base substitution C T intron_variant MELA-AU 14 100375866 100375866 single base substitution T C downstream_gene_variant MELA-AU 14 100375866 100375866 single base substitution T C intron_variant MELA-AU 14 100375877 100375877 single base substitution A G downstream_gene_variant MELA-AU 14 100375877 100375877 single base substitution A G intron_variant MELA-AU 14 100376190 100376190 single base substitution C T downstream_gene_variant MELA-AU 14 100376190 100376190 single base substitution C T intron_variant MELA-AU 14 100376190 100376190 single base substitution C T upstream_gene_variant MELA-AU 14 100376230 100376230 single base substitution C T downstream_gene_variant MELA-AU 14 100376230 100376230 single base substitution C T intron_variant MELA-AU 14 100376230 100376230 single base substitution C T upstream_gene_variant MELA-AU 14 100376672 100376672 single base substitution G A downstream_gene_variant MELA-AU 14 100376672 100376672 single base substitution G A exon_variant MELA-AU 14 100376672 100376672 single base substitution G A missense_variant G137R 409G>A MELA-AU 14 100376672 100376672 single base substitution G A missense_variant G433R 1297G>A MELA-AU 14 100376672 100376672 single base substitution G A missense_variant G445R 1333G>A MELA-AU 14 100376672 100376672 single base substitution G A missense_variant G464R 1390G>A MELA-AU 14 100376672 100376672 single base substitution G A upstream_gene_variant MELA-AU 14 100376673 100376673 single base substitution G A downstream_gene_variant MELA-AU 14 100376673 100376673 single base substitution G A exon_variant MELA-AU 14 100376673 100376673 single base substitution G A missense_variant G137E 410G>A MELA-AU 14 100376673 100376673 single base substitution G A missense_variant G433E 1298G>A MELA-AU 14 100376673 100376673 single base substitution G A missense_variant G445E 1334G>A MELA-AU 14 100376673 100376673 single base substitution G A missense_variant G464E 1391G>A MELA-AU 14 100376673 100376673 single base substitution G A upstream_gene_variant MELA-AU 14 100377226 100377226 single base substitution G A downstream_gene_variant MELA-AU 14 100377226 100377226 single base substitution G A intron_variant MELA-AU 14 100377226 100377226 single base substitution G A upstream_gene_variant MELA-AU 14 100377381 100377381 single base substitution C T downstream_gene_variant MELA-AU 14 100377381 100377381 single base substitution C T intron_variant MELA-AU 14 100377381 100377381 single base substitution C T upstream_gene_variant MELA-AU 14 100377505 100377505 single base substitution C T downstream_gene_variant MELA-AU 14 100377505 100377505 single base substitution C T intron_variant MELA-AU 14 100377505 100377505 single base substitution C T upstream_gene_variant MELA-AU 14 100378221 100378221 single base substitution T A downstream_gene_variant MELA-AU 14 100378221 100378221 single base substitution T A intron_variant MELA-AU 14 100378221 100378221 single base substitution T A upstream_gene_variant MELA-AU 14 100378252 100378252 single base substitution T C downstream_gene_variant MELA-AU 14 100378252 100378252 single base substitution T C intron_variant MELA-AU 14 100378252 100378252 single base substitution T C upstream_gene_variant MELA-AU 14 100378339 100378339 single base substitution C T downstream_gene_variant MELA-AU 14 100378339 100378339 single base substitution C T intron_variant MELA-AU 14 100378339 100378339 single base substitution C T upstream_gene_variant MELA-AU 14 100378978 100378978 single base substitution C T downstream_gene_variant MELA-AU 14 100378978 100378978 single base substitution C T intron_variant MELA-AU 14 100378978 100378978 single base substitution C T upstream_gene_variant MELA-AU 14 100379089 100379089 single base substitution C T downstream_gene_variant MELA-AU 14 100379089 100379089 single base substitution C T intron_variant MELA-AU 14 100379089 100379089 single base substitution C T upstream_gene_variant MELA-AU 14 100379130 100379130 single base substitution C T downstream_gene_variant MELA-AU 14 100379130 100379130 single base substitution C T intron_variant MELA-AU 14 100379130 100379130 single base substitution C T upstream_gene_variant MELA-AU 14 100379277 100379277 single base substitution G A downstream_gene_variant MELA-AU 14 100379277 100379277 single base substitution G A intron_variant MELA-AU 14 100379277 100379277 single base substitution G A upstream_gene_variant MELA-AU 14 100379360 100379360 single base substitution C T downstream_gene_variant MELA-AU 14 100379360 100379360 single base substitution C T intron_variant MELA-AU 14 100379360 100379360 single base substitution C T upstream_gene_variant MELA-AU 14 100379755 100379755 single base substitution C T downstream_gene_variant MELA-AU 14 100379755 100379755 single base substitution C T intron_variant MELA-AU 14 100379755 100379755 single base substitution C T upstream_gene_variant MELA-AU 14 100380353 100380353 single base substitution C T downstream_gene_variant MELA-AU 14 100380353 100380353 single base substitution C T intron_variant MELA-AU 14 100380353 100380353 single base substitution C T upstream_gene_variant MELA-AU 14 100380838 100380838 single base substitution C T downstream_gene_variant MELA-AU 14 100380838 100380838 single base substitution C T intron_variant MELA-AU 14 100380838 100380838 single base substitution C T upstream_gene_variant MELA-AU 14 100381057 100381057 single base substitution C T downstream_gene_variant MELA-AU 14 100381057 100381057 single base substitution C T exon_variant MELA-AU 14 100381057 100381057 single base substitution C T intron_variant MELA-AU 14 100381082 100381082 single base substitution G A downstream_gene_variant MELA-AU 14 100381082 100381082 single base substitution G A exon_variant MELA-AU 14 100381082 100381082 single base substitution G A intron_variant MELA-AU 14 100381499 100381499 single base substitution C T downstream_gene_variant MELA-AU 14 100381499 100381499 single base substitution C T exon_variant MELA-AU 14 100381499 100381499 single base substitution C T intron_variant MELA-AU 14 100381686 100381686 single base substitution T C downstream_gene_variant MELA-AU 14 100381686 100381686 single base substitution T C exon_variant MELA-AU 14 100381686 100381686 single base substitution T C intron_variant MELA-AU 14 100382035 100382035 single base substitution G A downstream_gene_variant MELA-AU 14 100382035 100382035 single base substitution G A intron_variant MELA-AU 14 100382164 100382164 single base substitution C T downstream_gene_variant MELA-AU 14 100382164 100382164 single base substitution C T intron_variant MELA-AU 14 100382268 100382268 single base substitution G A downstream_gene_variant MELA-AU 14 100382268 100382268 single base substitution G A intron_variant MELA-AU 14 100382422 100382422 single base substitution G A downstream_gene_variant MELA-AU 14 100382422 100382422 single base substitution G A intron_variant MELA-AU 14 100382442 100382442 single base substitution C T downstream_gene_variant MELA-AU 14 100382442 100382442 single base substitution C T intron_variant MELA-AU 14 100382575 100382575 single base substitution C T downstream_gene_variant MELA-AU 14 100382575 100382575 single base substitution C T intron_variant MELA-AU 14 100382656 100382656 single base substitution G A downstream_gene_variant MELA-AU 14 100382656 100382656 single base substitution G A intron_variant MELA-AU 14 100382661 100382661 single base substitution C T downstream_gene_variant MELA-AU 14 100382661 100382661 single base substitution C T intron_variant MELA-AU 14 100383166 100383166 single base substitution G A downstream_gene_variant MELA-AU 14 100383166 100383166 single base substitution G A intron_variant MELA-AU 14 100383235 100383235 single base substitution C T downstream_gene_variant MELA-AU 14 100383235 100383235 single base substitution C T intron_variant MELA-AU 14 100383254 100383254 single base substitution C T downstream_gene_variant MELA-AU 14 100383254 100383254 single base substitution C T intron_variant MELA-AU 14 100383258 100383258 single base substitution G A downstream_gene_variant MELA-AU 14 100383258 100383258 single base substitution G A intron_variant MELA-AU 14 100383492 100383492 single base substitution G A downstream_gene_variant MELA-AU 14 100383492 100383492 single base substitution G A intron_variant MELA-AU 14 100383506 100383506 single base substitution G A downstream_gene_variant MELA-AU 14 100383506 100383506 single base substitution G A intron_variant MELA-AU 14 100383520 100383520 single base substitution A G downstream_gene_variant MELA-AU 14 100383520 100383520 single base substitution A G intron_variant MELA-AU 14 100383606 100383606 single base substitution C T downstream_gene_variant MELA-AU 14 100383606 100383606 single base substitution C T intron_variant MELA-AU 14 100383796 100383796 single base substitution C T downstream_gene_variant MELA-AU 14 100383796 100383796 single base substitution C T intron_variant MELA-AU 14 100383904 100383904 single base substitution G A downstream_gene_variant MELA-AU 14 100383904 100383904 single base substitution G A intron_variant MELA-AU 14 100383947 100383947 single base substitution C T downstream_gene_variant MELA-AU 14 100383947 100383947 single base substitution C T intron_variant MELA-AU 14 100383968 100383968 single base substitution T G downstream_gene_variant MELA-AU 14 100383968 100383968 single base substitution T G intron_variant MELA-AU 14 100384294 100384294 single base substitution G A downstream_gene_variant MELA-AU 14 100384294 100384294 single base substitution G A intron_variant MELA-AU 14 100384839 100384839 single base substitution C T downstream_gene_variant MELA-AU 14 100384839 100384839 single base substitution C T intron_variant MELA-AU 14 100385084 100385084 single base substitution C T downstream_gene_variant MELA-AU 14 100385084 100385084 single base substitution C T intron_variant MELA-AU 14 100385239 100385239 single base substitution C T downstream_gene_variant MELA-AU 14 100385239 100385239 single base substitution C T intron_variant MELA-AU 14 100385419 100385419 single base substitution C T downstream_gene_variant MELA-AU 14 100385419 100385419 single base substitution C T intron_variant MELA-AU 14 100385448 100385448 single base substitution A C downstream_gene_variant MELA-AU 14 100385448 100385448 single base substitution A C intron_variant MELA-AU 14 100385567 100385567 single base substitution C T downstream_gene_variant MELA-AU 14 100385567 100385567 single base substitution C T intron_variant MELA-AU 14 100386269 100386269 single base substitution G A downstream_gene_variant MELA-AU 14 100386269 100386269 single base substitution G A intron_variant MELA-AU 14 100386360 100386360 single base substitution C T downstream_gene_variant MELA-AU 14 100386360 100386360 single base substitution C T intron_variant MELA-AU 14 100386447 100386447 single base substitution G C downstream_gene_variant MELA-AU 14 100386447 100386447 single base substitution G C intron_variant MELA-AU 14 100386475 100386475 single base substitution C T downstream_gene_variant MELA-AU 14 100386475 100386475 single base substitution C T intron_variant MELA-AU 14 100386589 100386589 single base substitution C T downstream_gene_variant MELA-AU 14 100386589 100386589 single base substitution C T intron_variant MELA-AU 14 100386700 100386700 single base substitution C T downstream_gene_variant MELA-AU 14 100386700 100386700 single base substitution C T intron_variant MELA-AU 14 100386752 100386752 single base substitution C T intron_variant MELA-AU 14 100386841 100386841 single base substitution T G intron_variant MELA-AU 14 100387184 100387184 single base substitution G A exon_variant MELA-AU 14 100387184 100387184 single base substitution G A missense_variant E615K 1843G>A MELA-AU 14 100387184 100387184 single base substitution G A missense_variant E627K 1879G>A MELA-AU 14 100387184 100387184 single base substitution G A missense_variant E646K 1936G>A MELA-AU 14 100387190 100387190 single base substitution C T exon_variant MELA-AU 14 100387190 100387190 single base substitution C T missense_variant L617F 1849C>T MELA-AU 14 100387190 100387190 single base substitution C T missense_variant L629F 1885C>T MELA-AU 14 100387190 100387190 single base substitution C T missense_variant L648F 1942C>T MELA-AU 14 100387474 100387474 single base substitution C T intron_variant MELA-AU 14 100387579 100387579 single base substitution G A intron_variant MELA-AU 14 100387584 100387584 single base substitution T C intron_variant MELA-AU 14 100387594 100387594 single base substitution C T intron_variant MELA-AU 14 100387665 100387665 single base substitution G A intron_variant MELA-AU 14 100387812 100387812 single base substitution G A intron_variant MELA-AU 14 100387904 100387904 single base substitution A G intron_variant MELA-AU 14 100388049 100388049 single base substitution C T intron_variant MELA-AU 14 100388315 100388315 single base substitution C T intron_variant MELA-AU 14 100388324 100388324 single base substitution G A intron_variant MELA-AU 14 100388424 100388424 single base substitution C T intron_variant MELA-AU 14 100388526 100388526 single base substitution C T intron_variant MELA-AU 14 100388588 100388588 single base substitution G A intron_variant MELA-AU 14 100388838 100388838 single base substitution C T intron_variant MELA-AU 14 100388907 100388907 single base substitution G A intron_variant MELA-AU 14 100388927 100388927 single base substitution C T intron_variant MELA-AU 14 100388942 100388942 single base substitution C T intron_variant MELA-AU 14 100389002 100389002 single base substitution T A intron_variant MELA-AU 14 100389145 100389145 single base substitution G A intron_variant MELA-AU 14 100389678 100389678 single base substitution C T intron_variant MELA-AU 14 100389816 100389816 single base substitution G A intron_variant MELA-AU 14 100389895 100389895 single base substitution C T intron_variant MELA-AU 14 100389901 100389901 single base substitution G T intron_variant MELA-AU 14 100389999 100389999 single base substitution C T intron_variant MELA-AU 14 100390359 100390359 single base substitution C T intron_variant MELA-AU 14 100390464 100390464 single base substitution T C intron_variant MELA-AU 14 100391447 100391447 single base substitution C T intron_variant MELA-AU 14 100391535 100391535 single base substitution G A intron_variant MELA-AU 14 100391576 100391576 single base substitution C T intron_variant MELA-AU 14 100392031 100392031 single base substitution G A intron_variant MELA-AU 14 100392157 100392157 single base substitution C T intron_variant MELA-AU 14 100392230 100392230 single base substitution C T intron_variant MELA-AU 14 100392256 100392256 single base substitution C T intron_variant MELA-AU 14 100392374 100392374 single base substitution G A intron_variant MELA-AU 14 100392417 100392417 single base substitution C T intron_variant MELA-AU 14 100392499 100392499 single base substitution G A intron_variant MELA-AU 14 100392549 100392549 single base substitution G A intron_variant MELA-AU 14 100392617 100392617 single base substitution T C intron_variant MELA-AU 14 100392670 100392670 single base substitution G A intron_variant MELA-AU 14 100392713 100392713 single base substitution C T intron_variant MELA-AU 14 100393039 100393039 single base substitution C T intron_variant MELA-AU 14 100393459 100393459 single base substitution C T intron_variant MELA-AU 14 100393567 100393567 single base substitution C T intron_variant MELA-AU 14 100393730 100393730 single base substitution C T intron_variant MELA-AU 14 100393753 100393753 single base substitution G A intron_variant MELA-AU 14 100393769 100393769 single base substitution C T intron_variant MELA-AU 14 100393879 100393879 single base substitution T C intron_variant MELA-AU 14 100394613 100394613 single base substitution G A intron_variant MELA-AU 14 100394661 100394661 single base substitution T C intron_variant MELA-AU 14 100394744 100394744 single base substitution G A intron_variant MELA-AU 14 100394797 100394797 single base substitution C T intron_variant MELA-AU 14 100394804 100394804 single base substitution C T intron_variant MELA-AU 14 100394814 100394814 single base substitution G A intron_variant MELA-AU 14 100394948 100394948 single base substitution C T intron_variant MELA-AU 14 100395175 100395176 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100395256 100395256 single base substitution C T intron_variant MELA-AU 14 100395348 100395348 single base substitution C T intron_variant MELA-AU 14 100395366 100395366 single base substitution C T intron_variant MELA-AU 14 100395415 100395415 single base substitution C T intron_variant MELA-AU 14 100395432 100395432 single base substitution C T intron_variant MELA-AU 14 100395467 100395468 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100395470 100395470 single base substitution G A intron_variant MELA-AU 14 100396449 100396449 single base substitution G A intron_variant MELA-AU 14 100396896 100396896 single base substitution A C intron_variant MELA-AU 14 100396970 100396970 single base substitution T A intron_variant MELA-AU 14 100397119 100397119 single base substitution C T intron_variant MELA-AU 14 100397608 100397608 single base substitution C T intron_variant MELA-AU 14 100397608 100397608 single base substitution C T upstream_gene_variant MELA-AU 14 100397645 100397645 single base substitution G A intron_variant MELA-AU 14 100397645 100397645 single base substitution G A upstream_gene_variant MELA-AU 14 100397718 100397718 single base substitution G A intron_variant MELA-AU 14 100397718 100397718 single base substitution G A upstream_gene_variant MELA-AU 14 100397828 100397828 single base substitution C T intron_variant MELA-AU 14 100397828 100397828 single base substitution C T upstream_gene_variant MELA-AU 14 100398139 100398139 single base substitution A G intron_variant MELA-AU 14 100398139 100398139 single base substitution A G upstream_gene_variant MELA-AU 14 100398280 100398280 single base substitution G A intron_variant MELA-AU 14 100398280 100398280 single base substitution G A upstream_gene_variant MELA-AU 14 100398427 100398427 single base substitution G A intron_variant MELA-AU 14 100398427 100398427 single base substitution G A upstream_gene_variant MELA-AU 14 100398498 100398498 single base substitution G A intron_variant MELA-AU 14 100398498 100398498 single base substitution G A upstream_gene_variant MELA-AU 14 100398658 100398658 single base substitution G A intron_variant MELA-AU 14 100398658 100398658 single base substitution G A upstream_gene_variant MELA-AU 14 100398938 100398938 single base substitution T C intron_variant MELA-AU 14 100398938 100398938 single base substitution T C upstream_gene_variant MELA-AU 14 100399319 100399319 single base substitution G A intron_variant MELA-AU 14 100399319 100399319 single base substitution G A upstream_gene_variant MELA-AU 14 100399553 100399554 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100399553 100399554 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 100399862 100399862 single base substitution C T intron_variant MELA-AU 14 100399862 100399862 single base substitution C T upstream_gene_variant MELA-AU 14 100400031 100400031 single base substitution G T intron_variant MELA-AU 14 100400031 100400031 single base substitution G T upstream_gene_variant MELA-AU 14 100400149 100400149 single base substitution G T intron_variant MELA-AU 14 100400149 100400149 single base substitution G T upstream_gene_variant MELA-AU 14 100400188 100400188 single base substitution C T intron_variant MELA-AU 14 100400188 100400188 single base substitution C T upstream_gene_variant MELA-AU 14 100400420 100400420 single base substitution G A intron_variant MELA-AU 14 100400420 100400420 single base substitution G A upstream_gene_variant MELA-AU 14 100400426 100400426 single base substitution C T intron_variant MELA-AU 14 100400426 100400426 single base substitution C T upstream_gene_variant MELA-AU 14 100400735 100400735 single base substitution C T intron_variant MELA-AU 14 100400735 100400735 single base substitution C T upstream_gene_variant MELA-AU 14 100400789 100400789 single base substitution G A intron_variant MELA-AU 14 100400789 100400789 single base substitution G A upstream_gene_variant MELA-AU 14 100400974 100400974 single base substitution G A intron_variant MELA-AU 14 100400974 100400974 single base substitution G A upstream_gene_variant MELA-AU 14 100401326 100401326 single base substitution G A intron_variant MELA-AU 14 100401326 100401326 single base substitution G A upstream_gene_variant MELA-AU 14 100401453 100401453 single base substitution G A intron_variant MELA-AU 14 100401453 100401453 single base substitution G A upstream_gene_variant MELA-AU 14 100401503 100401503 single base substitution T A intron_variant MELA-AU 14 100401503 100401503 single base substitution T A upstream_gene_variant MELA-AU 14 100401558 100401558 single base substitution C T intron_variant MELA-AU 14 100401558 100401558 single base substitution C T upstream_gene_variant MELA-AU 14 100401687 100401687 single base substitution G A intron_variant MELA-AU 14 100401687 100401687 single base substitution G A upstream_gene_variant MELA-AU 14 100401707 100401707 single base substitution C T intron_variant MELA-AU 14 100401707 100401707 single base substitution C T upstream_gene_variant MELA-AU 14 100401756 100401756 single base substitution C T intron_variant MELA-AU 14 100401756 100401756 single base substitution C T upstream_gene_variant MELA-AU 14 100401840 100401840 single base substitution C T intron_variant MELA-AU 14 100401840 100401840 single base substitution C T upstream_gene_variant MELA-AU 14 100401868 100401868 single base substitution C T intron_variant MELA-AU 14 100401868 100401868 single base substitution C T upstream_gene_variant MELA-AU 14 100401885 100401886 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 14 100401885 100401886 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 14 100402046 100402047 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100402046 100402047 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 100402074 100402074 single base substitution C T intron_variant MELA-AU 14 100402074 100402074 single base substitution C T upstream_gene_variant MELA-AU 14 100402106 100402106 single base substitution G A intron_variant MELA-AU 14 100402106 100402106 single base substitution G A upstream_gene_variant MELA-AU 14 100402275 100402275 single base substitution C T intron_variant MELA-AU 14 100402275 100402275 single base substitution C T upstream_gene_variant MELA-AU 14 100402313 100402313 single base substitution G A intron_variant MELA-AU 14 100402313 100402313 single base substitution G A upstream_gene_variant MELA-AU 14 100402659 100402659 single base substitution G A 3_prime_UTR_variant MELA-AU 14 100402659 100402659 single base substitution G A exon_variant MELA-AU 14 100402659 100402659 single base substitution G A missense_variant E683K 2047G>A MELA-AU 14 100402659 100402659 single base substitution G A missense_variant E695K 2083G>A MELA-AU 14 100402659 100402659 single base substitution G A missense_variant E714K 2140G>A MELA-AU 14 100402731 100402731 single base substitution C T intron_variant MELA-AU 14 100402904 100402905 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100402953 100402953 single base substitution G A intron_variant MELA-AU 14 100403070 100403070 single base substitution C T intron_variant MELA-AU 14 100403099 100403099 single base substitution G A intron_variant MELA-AU 14 100403220 100403220 single base substitution T A intron_variant MELA-AU 14 100403549 100403549 single base substitution C T intron_variant MELA-AU 14 100403581 100403581 single base substitution C T intron_variant MELA-AU 14 100403643 100403643 single base substitution C T intron_variant MELA-AU 14 100403788 100403788 single base substitution G A intron_variant MELA-AU 14 100403800 100403800 single base substitution G A intron_variant MELA-AU 14 100404388 100404388 single base substitution C T intron_variant MELA-AU 14 100404465 100404465 single base substitution C T intron_variant MELA-AU 14 100404549 100404549 single base substitution G A intron_variant MELA-AU 14 100404696 100404696 single base substitution G A intron_variant MELA-AU 14 100405196 100405196 single base substitution G A intron_variant MELA-AU 14 100405470 100405470 single base substitution C T intron_variant MELA-AU 14 100405543 100405543 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100405543 100405543 single base substitution C T exon_variant MELA-AU 14 100405543 100405543 single base substitution C T missense_variant P722L 2165C>T MELA-AU 14 100405543 100405543 single base substitution C T missense_variant P734L 2201C>T MELA-AU 14 100405543 100405543 single base substitution C T missense_variant P753L 2258C>T MELA-AU 14 100406167 100406168 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 100406167 100406168 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100406675 100406675 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100406675 100406675 single base substitution C T downstream_gene_variant MELA-AU 14 100407122 100407122 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100407122 100407122 single base substitution C T downstream_gene_variant MELA-AU 14 100407190 100407190 single base substitution T A 3_prime_UTR_variant MELA-AU 14 100407190 100407190 single base substitution T A downstream_gene_variant MELA-AU 14 100407587 100407587 single base substitution G A 3_prime_UTR_variant MELA-AU 14 100407587 100407587 single base substitution G A downstream_gene_variant MELA-AU 14 100407872 100407872 single base substitution T G 3_prime_UTR_variant MELA-AU 14 100407872 100407872 single base substitution T G downstream_gene_variant MELA-AU 14 100408361 100408361 single base substitution T C 3_prime_UTR_variant MELA-AU 14 100408361 100408361 single base substitution T C downstream_gene_variant MELA-AU 14 100408559 100408559 single base substitution C G downstream_gene_variant MELA-AU 14 100408906 100408906 single base substitution C T downstream_gene_variant MELA-AU 14 100409304 100409304 single base substitution G A downstream_gene_variant MELA-AU 14 100409393 100409393 single base substitution G A downstream_gene_variant MELA-AU 14 100409712 100409712 single base substitution C T downstream_gene_variant MELA-AU 14 100409928 100409928 single base substitution C T downstream_gene_variant MELA-AU 14 100410051 100410051 single base substitution C T downstream_gene_variant MELA-AU 14 100410102 100410102 single base substitution C T downstream_gene_variant MELA-AU 14 100410262 100410262 single base substitution C T downstream_gene_variant MELA-AU 14 100410281 100410282 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 100410332 100410332 single base substitution G A downstream_gene_variant MELA-AU 14 100410351 100410351 single base substitution G A downstream_gene_variant MELA-AU 14 100410449 100410449 single base substitution C T downstream_gene_variant MELA-AU 14 100410521 100410521 single base substitution C T downstream_gene_variant MELA-AU 14 100410582 100410582 single base substitution C G downstream_gene_variant MELA-AU 14 100410779 100410779 single base substitution C T downstream_gene_variant MELA-AU 14 100410960 100410961 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 100410989 100410989 single base substitution G A downstream_gene_variant MELA-AU 14 100412253 100412253 single base substitution T A downstream_gene_variant MELA-AU 14 100412828 100412828 single base substitution C T downstream_gene_variant MELA-AU 14 100413095 100413095 single base substitution G A downstream_gene_variant MELA-AU 14 100413383 100413383 single base substitution A T downstream_gene_variant ORCA-IN 14 100217151 100217151 single base substitution C T intron_variant ORCA-IN 14 100223577 100223577 single base substitution G A intron_variant ORCA-IN 14 100262563 100262563 single base substitution G C intron_variant ORCA-IN 14 100279516 100279516 single base substitution C G intron_variant ORCA-IN 14 100289737 100289737 single base substitution C T intron_variant ORCA-IN 14 100302978 100302978 single base substitution G A intron_variant ORCA-IN 14 100302978 100302978 single base substitution G A upstream_gene_variant ORCA-IN 14 100315312 100315312 deletion of <=200bp T - intron_variant ORCA-IN 14 100315312 100315312 deletion of <=200bp T - upstream_gene_variant ORCA-IN 14 100326382 100326382 single base substitution G A intron_variant ORCA-IN 14 100347706 100347706 single base substitution G A downstream_gene_variant ORCA-IN 14 100347706 100347706 single base substitution G A intron_variant ORCA-IN 14 100350656 100350656 single base substitution A C downstream_gene_variant ORCA-IN 14 100350656 100350656 single base substitution A C intron_variant ORCA-IN 14 100374416 100374416 single base substitution G A intron_variant ORCA-IN 14 100381223 100381223 single base substitution G A downstream_gene_variant ORCA-IN 14 100381223 100381223 single base substitution G A exon_variant ORCA-IN 14 100381223 100381223 single base substitution G A intron_variant ORCA-IN 14 100386865 100386865 single base substitution G A intron_variant ORCA-IN 14 100413325 100413325 single base substitution A G downstream_gene_variant OV-AU 14 100199757 100199757 single base substitution C T upstream_gene_variant OV-AU 14 100200358 100200358 single base substitution C G upstream_gene_variant OV-AU 14 100201436 100201436 single base substitution G C upstream_gene_variant OV-AU 14 100208541 100208541 single base substitution G C intron_variant OV-AU 14 100208691 100208691 single base substitution A T intron_variant OV-AU 14 100209570 100209570 single base substitution G A intron_variant OV-AU 14 100211030 100211030 single base substitution C T intron_variant OV-AU 14 100227216 100227216 single base substitution C T intron_variant OV-AU 14 100228290 100228290 single base substitution G C intron_variant OV-AU 14 100242508 100242508 single base substitution G A intron_variant OV-AU 14 100245181 100245181 single base substitution A T intron_variant OV-AU 14 100245777 100245777 single base substitution T A intron_variant OV-AU 14 100257111 100257111 single base substitution C T intron_variant OV-AU 14 100257111 100257111 single base substitution C T upstream_gene_variant OV-AU 14 100274154 100274154 single base substitution G A intron_variant OV-AU 14 100274154 100274154 single base substitution G A upstream_gene_variant OV-AU 14 100274762 100274762 single base substitution A G intron_variant OV-AU 14 100274762 100274762 single base substitution A G upstream_gene_variant OV-AU 14 100281307 100281307 single base substitution C A intron_variant OV-AU 14 100291656 100291656 single base substitution A C intron_variant OV-AU 14 100297543 100297543 single base substitution T G intron_variant OV-AU 14 100298389 100298389 single base substitution C T intron_variant OV-AU 14 100326174 100326174 single base substitution G C intron_variant OV-AU 14 100334607 100334607 single base substitution T C downstream_gene_variant OV-AU 14 100334607 100334607 single base substitution T C intron_variant OV-AU 14 100335274 100335274 single base substitution G T downstream_gene_variant OV-AU 14 100335274 100335274 single base substitution G T intron_variant OV-AU 14 100337413 100337413 single base substitution C G intron_variant OV-AU 14 100343788 100343788 single base substitution A G intron_variant OV-AU 14 100350058 100350058 single base substitution T G downstream_gene_variant OV-AU 14 100350058 100350058 single base substitution T G intron_variant OV-AU 14 100351292 100351292 single base substitution G A downstream_gene_variant OV-AU 14 100351292 100351292 single base substitution G A intron_variant OV-AU 14 100352816 100352816 single base substitution T C downstream_gene_variant OV-AU 14 100352816 100352816 single base substitution T C intron_variant OV-AU 14 100354807 100354807 single base substitution G C downstream_gene_variant OV-AU 14 100354807 100354807 single base substitution G C intron_variant OV-AU 14 100355878 100355878 single base substitution G A downstream_gene_variant OV-AU 14 100355878 100355878 single base substitution G A intron_variant OV-AU 14 100355878 100355878 single base substitution G A upstream_gene_variant OV-AU 14 100359289 100359289 single base substitution A G intron_variant OV-AU 14 100359289 100359289 single base substitution A G upstream_gene_variant OV-AU 14 100370430 100370430 single base substitution A G downstream_gene_variant OV-AU 14 100370430 100370430 single base substitution A G intron_variant OV-AU 14 100370430 100370430 single base substitution A G upstream_gene_variant OV-AU 14 100371920 100371920 single base substitution C G downstream_gene_variant OV-AU 14 100371920 100371920 single base substitution C G intron_variant OV-AU 14 100371920 100371920 single base substitution C G upstream_gene_variant OV-AU 14 100379620 100379620 single base substitution C A downstream_gene_variant OV-AU 14 100379620 100379620 single base substitution C A intron_variant OV-AU 14 100379620 100379620 single base substitution C A upstream_gene_variant OV-AU 14 100396205 100396205 single base substitution G A intron_variant OV-AU 14 100403248 100403248 single base substitution C T intron_variant OV-AU 14 100405466 100405466 single base substitution G A intron_variant OV-AU 14 100406967 100406967 single base substitution G C 3_prime_UTR_variant OV-AU 14 100406967 100406967 single base substitution G C downstream_gene_variant OV-AU 14 100407310 100407310 single base substitution T C 3_prime_UTR_variant OV-AU 14 100407310 100407310 single base substitution T C downstream_gene_variant OV-AU 14 100408446 100408446 single base substitution C A downstream_gene_variant OV-AU 14 100412942 100412942 single base substitution G A downstream_gene_variant PACA-AU 14 100201416 100201416 single base substitution C T upstream_gene_variant PACA-AU 14 100202798 100202798 single base substitution G C upstream_gene_variant PACA-AU 14 100203722 100203722 single base substitution G T upstream_gene_variant PACA-AU 14 100207758 100207758 single base substitution C A intron_variant PACA-AU 14 100209423 100209423 single base substitution G A intron_variant PACA-AU 14 100217152 100217152 single base substitution G A intron_variant PACA-AU 14 100230693 100230693 single base substitution C T intron_variant PACA-AU 14 100231952 100231952 deletion of <=200bp A - intron_variant PACA-AU 14 100236188 100236188 single base substitution C A intron_variant PACA-AU 14 100236188 100236188 single base substitution C A upstream_gene_variant PACA-AU 14 100236692 100236692 single base substitution C T intron_variant PACA-AU 14 100236692 100236692 single base substitution C T upstream_gene_variant PACA-AU 14 100237368 100237368 single base substitution G A intron_variant PACA-AU 14 100237368 100237368 single base substitution G A upstream_gene_variant PACA-AU 14 100242669 100242669 single base substitution G A intron_variant PACA-AU 14 100243472 100243475 deletion of <=200bp AATC - intron_variant PACA-AU 14 100250280 100250280 single base substitution G A intron_variant PACA-AU 14 100250453 100250453 single base substitution G C intron_variant PACA-AU 14 100252654 100252654 single base substitution G C intron_variant PACA-AU 14 100268459 100268459 single base substitution C T intron_variant PACA-AU 14 100271530 100271530 single base substitution C T intron_variant PACA-AU 14 100271530 100271530 single base substitution C T upstream_gene_variant PACA-AU 14 100272440 100272440 deletion of <=200bp T - intron_variant PACA-AU 14 100272440 100272440 deletion of <=200bp T - upstream_gene_variant PACA-AU 14 100273005 100273005 single base substitution G A intron_variant PACA-AU 14 100273005 100273005 single base substitution G A upstream_gene_variant PACA-AU 14 100280394 100280394 single base substitution A G intron_variant PACA-AU 14 100283387 100283387 single base substitution G T intron_variant PACA-AU 14 100283388 100283388 single base substitution G T intron_variant PACA-AU 14 100286602 100286602 single base substitution G A intron_variant PACA-AU 14 100289520 100289520 single base substitution C T intron_variant PACA-AU 14 100289521 100289521 single base substitution G A intron_variant PACA-AU 14 100289734 100289734 single base substitution G T intron_variant PACA-AU 14 100290404 100290404 single base substitution C T intron_variant PACA-AU 14 100291339 100291339 single base substitution G T intron_variant PACA-AU 14 100297435 100297435 single base substitution G A intron_variant PACA-AU 14 100301823 100301823 single base substitution G A intron_variant PACA-AU 14 100301823 100301823 single base substitution G A upstream_gene_variant PACA-AU 14 100302726 100302726 single base substitution G A intron_variant PACA-AU 14 100302726 100302726 single base substitution G A upstream_gene_variant PACA-AU 14 100310836 100310836 single base substitution C T intron_variant PACA-AU 14 100318166 100318166 single base substitution G A intron_variant PACA-AU 14 100320499 100320499 single base substitution G A intron_variant PACA-AU 14 100325501 100325501 single base substitution T A intron_variant PACA-AU 14 100326382 100326382 single base substitution G A intron_variant PACA-AU 14 100328858 100328858 single base substitution T C intron_variant PACA-AU 14 100328858 100328858 single base substitution T C upstream_gene_variant PACA-AU 14 100330860 100330860 single base substitution G A intron_variant PACA-AU 14 100330860 100330860 single base substitution G A upstream_gene_variant PACA-AU 14 100331158 100331158 single base substitution A G intron_variant PACA-AU 14 100331158 100331158 single base substitution A G upstream_gene_variant PACA-AU 14 100331726 100331726 single base substitution G A intron_variant PACA-AU 14 100331726 100331726 single base substitution G A upstream_gene_variant PACA-AU 14 100332436 100332436 single base substitution A G downstream_gene_variant PACA-AU 14 100332436 100332436 single base substitution A G intron_variant PACA-AU 14 100333837 100333837 single base substitution C T downstream_gene_variant PACA-AU 14 100333837 100333837 single base substitution C T intron_variant PACA-AU 14 100334806 100334806 single base substitution G A downstream_gene_variant PACA-AU 14 100334806 100334806 single base substitution G A intron_variant PACA-AU 14 100336644 100336644 single base substitution A G downstream_gene_variant PACA-AU 14 100336644 100336644 single base substitution A G intron_variant PACA-AU 14 100337180 100337180 single base substitution A T intron_variant PACA-AU 14 100337356 100337356 single base substitution C T intron_variant PACA-AU 14 100339208 100339208 single base substitution G A intron_variant PACA-AU 14 100344412 100344412 single base substitution C T intron_variant PACA-AU 14 100352500 100352500 single base substitution T A downstream_gene_variant PACA-AU 14 100352500 100352500 single base substitution T A intron_variant PACA-AU 14 100352795 100352795 single base substitution G A downstream_gene_variant PACA-AU 14 100352795 100352795 single base substitution G A intron_variant PACA-AU 14 100353537 100353537 single base substitution G A downstream_gene_variant PACA-AU 14 100353537 100353537 single base substitution G A intron_variant PACA-AU 14 100355394 100355394 single base substitution C T downstream_gene_variant PACA-AU 14 100355394 100355394 single base substitution C T intron_variant PACA-AU 14 100356472 100356472 insertion of <=200bp - AC downstream_gene_variant PACA-AU 14 100356472 100356472 insertion of <=200bp - AC intron_variant PACA-AU 14 100356472 100356472 insertion of <=200bp - AC upstream_gene_variant PACA-AU 14 100358425 100358425 single base substitution G A intron_variant PACA-AU 14 100358425 100358425 single base substitution G A upstream_gene_variant PACA-AU 14 100365189 100365189 single base substitution C T intron_variant PACA-AU 14 100365189 100365189 single base substitution C T upstream_gene_variant PACA-AU 14 100367254 100367254 insertion of <=200bp - T intron_variant PACA-AU 14 100370795 100370796 deletion of <=200bp AC - downstream_gene_variant PACA-AU 14 100370795 100370796 deletion of <=200bp AC - intron_variant PACA-AU 14 100370795 100370796 deletion of <=200bp AC - upstream_gene_variant PACA-AU 14 100374618 100374618 single base substitution C T intron_variant PACA-AU 14 100375230 100375230 single base substitution G A intron_variant PACA-AU 14 100390610 100390610 single base substitution C T intron_variant PACA-AU 14 100394761 100394761 single base substitution C G intron_variant PACA-AU 14 100395043 100395043 single base substitution G A intron_variant PACA-AU 14 100395577 100395577 single base substitution C T intron_variant PACA-AU 14 100398226 100398226 single base substitution C T intron_variant PACA-AU 14 100398226 100398226 single base substitution C T upstream_gene_variant PACA-AU 14 100401686 100401686 single base substitution C T intron_variant PACA-AU 14 100401686 100401686 single base substitution C T upstream_gene_variant PACA-AU 14 100401980 100401980 single base substitution C T intron_variant PACA-AU 14 100401980 100401980 single base substitution C T upstream_gene_variant PACA-AU 14 100402353 100402353 single base substitution C T intron_variant PACA-AU 14 100402353 100402353 single base substitution C T upstream_gene_variant PACA-AU 14 100402659 100402659 single base substitution G A 3_prime_UTR_variant PACA-AU 14 100402659 100402659 single base substitution G A exon_variant PACA-AU 14 100402659 100402659 single base substitution G A missense_variant E683K 2047G>A PACA-AU 14 100402659 100402659 single base substitution G A missense_variant E695K 2083G>A PACA-AU 14 100402659 100402659 single base substitution G A missense_variant E714K 2140G>A PACA-AU 14 100403005 100403005 single base substitution C T intron_variant PACA-AU 14 100405720 100405720 single base substitution C T downstream_gene_variant PACA-AU 14 100405720 100405720 single base substitution C T intron_variant PACA-AU 14 100405820 100405820 single base substitution G A downstream_gene_variant PACA-AU 14 100405820 100405820 single base substitution G A intron_variant PACA-AU 14 100406308 100406308 single base substitution G A downstream_gene_variant PACA-AU 14 100406308 100406308 single base substitution G A intron_variant PACA-AU 14 100411644 100411644 single base substitution T C downstream_gene_variant PACA-AU 14 100412790 100412790 single base substitution A T downstream_gene_variant PACA-CA 14 100201009 100201009 single base substitution C A upstream_gene_variant PACA-CA 14 100203199 100203199 single base substitution C G upstream_gene_variant PACA-CA 14 100203345 100203345 single base substitution C T upstream_gene_variant PACA-CA 14 100203454 100203454 single base substitution C T upstream_gene_variant PACA-CA 14 100203490 100203490 single base substitution C G upstream_gene_variant PACA-CA 14 100204024 100204024 insertion of <=200bp - G upstream_gene_variant PACA-CA 14 100204987 100204987 single base substitution C A intron_variant PACA-CA 14 100205262 100205262 single base substitution C T intron_variant PACA-CA 14 100205562 100205562 single base substitution G A intron_variant PACA-CA 14 100207101 100207101 single base substitution G A intron_variant PACA-CA 14 100207312 100207312 single base substitution A G intron_variant PACA-CA 14 100208580 100208580 single base substitution A T intron_variant PACA-CA 14 100209277 100209277 single base substitution G A intron_variant PACA-CA 14 100214570 100214570 single base substitution C T intron_variant PACA-CA 14 100215008 100215008 deletion of <=200bp A - intron_variant PACA-CA 14 100215537 100215537 single base substitution C T intron_variant PACA-CA 14 100216395 100216395 single base substitution G C intron_variant PACA-CA 14 100217850 100217850 single base substitution C T intron_variant PACA-CA 14 100220726 100220726 single base substitution G A intron_variant PACA-CA 14 100221680 100221680 single base substitution C A intron_variant PACA-CA 14 100224126 100224126 single base substitution A T intron_variant PACA-CA 14 100225733 100225733 single base substitution T C intron_variant PACA-CA 14 100227199 100227199 single base substitution C A intron_variant PACA-CA 14 100227744 100227744 single base substitution G A intron_variant PACA-CA 14 100229371 100229371 single base substitution C A intron_variant PACA-CA 14 100236158 100236158 single base substitution C A intron_variant PACA-CA 14 100236158 100236158 single base substitution C A upstream_gene_variant PACA-CA 14 100236713 100236713 insertion of <=200bp - A intron_variant PACA-CA 14 100236713 100236713 insertion of <=200bp - A upstream_gene_variant PACA-CA 14 100240652 100240652 single base substitution G A intron_variant PACA-CA 14 100243092 100243092 single base substitution A C intron_variant PACA-CA 14 100245922 100245922 single base substitution G A intron_variant PACA-CA 14 100246452 100246452 single base substitution C A intron_variant PACA-CA 14 100246926 100246926 single base substitution G T intron_variant PACA-CA 14 100247450 100247450 single base substitution T A intron_variant PACA-CA 14 100248763 100248763 single base substitution G A intron_variant PACA-CA 14 100249031 100249031 insertion of <=200bp - A intron_variant PACA-CA 14 100249475 100249475 single base substitution C G intron_variant PACA-CA 14 100251710 100251710 single base substitution G T intron_variant PACA-CA 14 100251948 100251948 single base substitution G A intron_variant PACA-CA 14 100256428 100256428 single base substitution T A intron_variant PACA-CA 14 100256428 100256428 single base substitution T A upstream_gene_variant PACA-CA 14 100258773 100258773 single base substitution C T intron_variant PACA-CA 14 100258773 100258773 single base substitution C T upstream_gene_variant PACA-CA 14 100259223 100259223 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 14 100259223 100259223 single base substitution G A intron_variant PACA-CA 14 100259223 100259223 single base substitution G A upstream_gene_variant PACA-CA 14 100263027 100263027 single base substitution C A intron_variant PACA-CA 14 100263242 100263242 single base substitution G A intron_variant PACA-CA 14 100264669 100264669 single base substitution G A intron_variant PACA-CA 14 100268711 100268711 single base substitution A G intron_variant PACA-CA 14 100274631 100274631 single base substitution A T intron_variant PACA-CA 14 100274631 100274631 single base substitution A T upstream_gene_variant PACA-CA 14 100280055 100280055 single base substitution T A intron_variant PACA-CA 14 100280618 100280618 deletion of <=200bp T - intron_variant PACA-CA 14 100282909 100282909 single base substitution C T intron_variant PACA-CA 14 100287498 100287498 single base substitution C T intron_variant PACA-CA 14 100288827 100288827 single base substitution G T intron_variant PACA-CA 14 100290801 100290801 single base substitution T C intron_variant PACA-CA 14 100292032 100292032 single base substitution C T intron_variant PACA-CA 14 100293065 100293065 single base substitution C A intron_variant PACA-CA 14 100293622 100293622 single base substitution G C intron_variant PACA-CA 14 100293642 100293642 single base substitution C T intron_variant PACA-CA 14 100295351 100295351 single base substitution C G intron_variant PACA-CA 14 100296666 100296666 single base substitution G C intron_variant PACA-CA 14 100299697 100299697 single base substitution T G intron_variant PACA-CA 14 100299897 100299897 insertion of <=200bp - T intron_variant PACA-CA 14 100303034 100303034 single base substitution T A intron_variant PACA-CA 14 100303034 100303034 single base substitution T A upstream_gene_variant PACA-CA 14 100304313 100304313 single base substitution T C intron_variant PACA-CA 14 100304313 100304313 single base substitution T C upstream_gene_variant PACA-CA 14 100309188 100309188 single base substitution A G intron_variant PACA-CA 14 100309592 100309592 insertion of <=200bp - A intron_variant PACA-CA 14 100314365 100314365 single base substitution A T intron_variant PACA-CA 14 100314365 100314365 single base substitution A T upstream_gene_variant PACA-CA 14 100315744 100315744 single base substitution G T intron_variant PACA-CA 14 100315744 100315744 single base substitution G T upstream_gene_variant PACA-CA 14 100315866 100315866 single base substitution G A intron_variant PACA-CA 14 100315866 100315866 single base substitution G A upstream_gene_variant PACA-CA 14 100315890 100315890 single base substitution A G intron_variant PACA-CA 14 100315890 100315890 single base substitution A G upstream_gene_variant PACA-CA 14 100317535 100317535 single base substitution T C intron_variant PACA-CA 14 100317707 100317707 single base substitution C T intron_variant PACA-CA 14 100324092 100324092 single base substitution C A intron_variant PACA-CA 14 100324656 100324656 single base substitution G A intron_variant PACA-CA 14 100326509 100326509 single base substitution G A intron_variant PACA-CA 14 100327059 100327059 single base substitution A C intron_variant PACA-CA 14 100327059 100327059 single base substitution A C upstream_gene_variant PACA-CA 14 100333698 100333698 deletion of <=200bp A - downstream_gene_variant PACA-CA 14 100333698 100333698 deletion of <=200bp A - intron_variant PACA-CA 14 100337910 100337910 single base substitution G A intron_variant PACA-CA 14 100340067 100340067 single base substitution G A intron_variant PACA-CA 14 100342091 100342091 single base substitution G A intron_variant PACA-CA 14 100343722 100343722 single base substitution C A intron_variant PACA-CA 14 100344869 100344869 single base substitution G A downstream_gene_variant PACA-CA 14 100344869 100344869 single base substitution G A exon_variant PACA-CA 14 100344869 100344869 single base substitution G A missense_variant R113Q 338G>A PACA-CA 14 100344869 100344869 single base substitution G A missense_variant R131Q 392G>A PACA-CA 14 100344869 100344869 single base substitution G A missense_variant R132Q 395G>A PACA-CA 14 100344869 100344869 single base substitution G A missense_variant R144Q 431G>A PACA-CA 14 100344869 100344869 single base substitution G A missense_variant R150Q 449G>A PACA-CA 14 100344869 100344869 single base substitution G A missense_variant R163Q 488G>A PACA-CA 14 100344869 100344869 single base substitution G A missense_variant R29Q 86G>A PACA-CA 14 100350409 100350409 single base substitution C T downstream_gene_variant PACA-CA 14 100350409 100350409 single base substitution C T intron_variant PACA-CA 14 100352757 100352757 single base substitution G A downstream_gene_variant PACA-CA 14 100352757 100352757 single base substitution G A intron_variant PACA-CA 14 100353536 100353536 single base substitution C T downstream_gene_variant PACA-CA 14 100353536 100353536 single base substitution C T intron_variant PACA-CA 14 100357727 100357727 single base substitution G T intron_variant PACA-CA 14 100357727 100357727 single base substitution G T upstream_gene_variant PACA-CA 14 100365249 100365249 single base substitution A G intron_variant PACA-CA 14 100365249 100365249 single base substitution A G upstream_gene_variant PACA-CA 14 100367085 100367085 single base substitution C A intron_variant PACA-CA 14 100374079 100374079 single base substitution C T intron_variant PACA-CA 14 100374431 100374431 single base substitution C T intron_variant PACA-CA 14 100375043 100375043 single base substitution G A intron_variant PACA-CA 14 100376193 100376193 deletion of <=200bp G - downstream_gene_variant PACA-CA 14 100376193 100376193 deletion of <=200bp G - intron_variant PACA-CA 14 100376193 100376193 deletion of <=200bp G - upstream_gene_variant PACA-CA 14 100379394 100379394 single base substitution A G downstream_gene_variant PACA-CA 14 100379394 100379394 single base substitution A G intron_variant PACA-CA 14 100379394 100379394 single base substitution A G upstream_gene_variant PACA-CA 14 100380664 100380664 single base substitution C T downstream_gene_variant PACA-CA 14 100380664 100380664 single base substitution C T intron_variant PACA-CA 14 100380664 100380664 single base substitution C T upstream_gene_variant PACA-CA 14 100383697 100383697 single base substitution A C downstream_gene_variant PACA-CA 14 100383697 100383697 single base substitution A C intron_variant PACA-CA 14 100384170 100384170 single base substitution G A downstream_gene_variant PACA-CA 14 100384170 100384170 single base substitution G A exon_variant PACA-CA 14 100384170 100384170 single base substitution G A missense_variant G590R 1768G>A PACA-CA 14 100384170 100384170 single base substitution G A missense_variant G602R 1804G>A PACA-CA 14 100384170 100384170 single base substitution G A missense_variant G621R 1861G>A PACA-CA 14 100385594 100385594 single base substitution G A downstream_gene_variant PACA-CA 14 100385594 100385594 single base substitution G A intron_variant PACA-CA 14 100385891 100385891 single base substitution C T downstream_gene_variant PACA-CA 14 100385891 100385891 single base substitution C T intron_variant PACA-CA 14 100390214 100390214 single base substitution C T intron_variant PACA-CA 14 100390610 100390610 single base substitution C T intron_variant PACA-CA 14 100396126 100396126 single base substitution C T intron_variant PACA-CA 14 100396226 100396226 single base substitution C T intron_variant PACA-CA 14 100399820 100399820 single base substitution G T intron_variant PACA-CA 14 100399820 100399820 single base substitution G T upstream_gene_variant PACA-CA 14 100400111 100400111 single base substitution G T intron_variant PACA-CA 14 100400111 100400111 single base substitution G T upstream_gene_variant PACA-CA 14 100402854 100402854 single base substitution G A intron_variant PACA-CA 14 100403616 100403616 single base substitution A G intron_variant PACA-CA 14 100407515 100407515 single base substitution G A 3_prime_UTR_variant PACA-CA 14 100407515 100407515 single base substitution G A downstream_gene_variant PACA-CA 14 100408414 100408414 single base substitution T C downstream_gene_variant PACA-CA 14 100411059 100411059 single base substitution G C downstream_gene_variant PAEN-AU 14 100214882 100214882 single base substitution G C intron_variant PAEN-AU 14 100224811 100224811 single base substitution G T intron_variant PAEN-AU 14 100232107 100232107 single base substitution A T intron_variant PAEN-AU 14 100238244 100238244 single base substitution T C intron_variant PAEN-AU 14 100238244 100238244 single base substitution T C upstream_gene_variant PAEN-AU 14 100263453 100263453 single base substitution C T intron_variant PAEN-AU 14 100304978 100304978 single base substitution C T intron_variant PAEN-AU 14 100304978 100304978 single base substitution C T upstream_gene_variant PAEN-AU 14 100358737 100358737 single base substitution A G intron_variant PAEN-AU 14 100358737 100358737 single base substitution A G upstream_gene_variant PAEN-AU 14 100410754 100410754 single base substitution G T downstream_gene_variant PAEN-IT 14 100205137 100205137 single base substitution A C intron_variant PAEN-IT 14 100268545 100268545 single base substitution G T intron_variant PAEN-IT 14 100324028 100324028 single base substitution A G intron_variant PAEN-IT 14 100374609 100374609 single base substitution T A intron_variant PBCA-DE 14 100219623 100219623 single base substitution C A intron_variant PBCA-DE 14 100221935 100221935 single base substitution C T intron_variant PBCA-DE 14 100228059 100228059 insertion of <=200bp - C intron_variant PBCA-DE 14 100228433 100228433 single base substitution G C intron_variant PBCA-DE 14 100231954 100231954 single base substitution T A intron_variant PBCA-DE 14 100238626 100238626 single base substitution C T intron_variant PBCA-DE 14 100238626 100238626 single base substitution C T upstream_gene_variant PBCA-DE 14 100241437 100241437 single base substitution G A intron_variant PBCA-DE 14 100245976 100245976 single base substitution C T intron_variant PBCA-DE 14 100263015 100263015 insertion of <=200bp - A intron_variant PBCA-DE 14 100303068 100303068 single base substitution C T intron_variant PBCA-DE 14 100303068 100303068 single base substitution C T upstream_gene_variant PBCA-DE 14 100304967 100304967 insertion of <=200bp - T intron_variant PBCA-DE 14 100304967 100304967 insertion of <=200bp - T upstream_gene_variant PBCA-DE 14 100305958 100305958 single base substitution T C intron_variant PBCA-DE 14 100310281 100310281 single base substitution C T intron_variant PBCA-DE 14 100311451 100311451 single base substitution G A intron_variant PBCA-DE 14 100311843 100311843 single base substitution G T intron_variant PBCA-DE 14 100314404 100314404 insertion of <=200bp - T intron_variant PBCA-DE 14 100314404 100314404 insertion of <=200bp - T upstream_gene_variant PBCA-DE 14 100315886 100315886 single base substitution A G intron_variant PBCA-DE 14 100315886 100315886 single base substitution A G upstream_gene_variant PBCA-DE 14 100334367 100334367 single base substitution G A downstream_gene_variant PBCA-DE 14 100334367 100334367 single base substitution G A intron_variant PBCA-DE 14 100335077 100335077 insertion of <=200bp - T downstream_gene_variant PBCA-DE 14 100335077 100335077 insertion of <=200bp - T intron_variant PBCA-DE 14 100347603 100347603 single base substitution A T downstream_gene_variant PBCA-DE 14 100347603 100347603 single base substitution A T intron_variant PBCA-DE 14 100356519 100356519 single base substitution C G downstream_gene_variant PBCA-DE 14 100356519 100356519 single base substitution C G intron_variant PBCA-DE 14 100356519 100356519 single base substitution C G upstream_gene_variant PBCA-DE 14 100358462 100358462 single base substitution G A intron_variant PBCA-DE 14 100358462 100358462 single base substitution G A upstream_gene_variant PBCA-DE 14 100368187 100368187 single base substitution G T downstream_gene_variant PBCA-DE 14 100368187 100368187 single base substitution G T intron_variant PBCA-DE 14 100371378 100371379 deletion of <=200bp AG - downstream_gene_variant PBCA-DE 14 100371378 100371379 deletion of <=200bp AG - intron_variant PBCA-DE 14 100371378 100371379 deletion of <=200bp AG - upstream_gene_variant PBCA-DE 14 100373631 100373631 single base substitution T C exon_variant PBCA-DE 14 100373631 100373631 single base substitution T C intron_variant PBCA-DE 14 100390233 100390233 single base substitution G A intron_variant PBCA-DE 14 100409830 100409830 single base substitution A G downstream_gene_variant PRAD-CA 14 100205443 100205443 single base substitution G C intron_variant PRAD-CA 14 100241437 100241437 single base substitution G A intron_variant PRAD-CA 14 100260279 100260279 single base substitution A C intron_variant PRAD-CA 14 100273973 100273973 single base substitution C A intron_variant PRAD-CA 14 100273973 100273973 single base substitution C A upstream_gene_variant PRAD-CA 14 100315309 100315309 single base substitution A T intron_variant PRAD-CA 14 100315309 100315309 single base substitution A T upstream_gene_variant PRAD-CA 14 100315872 100315872 single base substitution A T intron_variant PRAD-CA 14 100315872 100315872 single base substitution A T upstream_gene_variant PRAD-CA 14 100369320 100369320 single base substitution G A downstream_gene_variant PRAD-CA 14 100369320 100369320 single base substitution G A intron_variant PRAD-CA 14 100369320 100369320 single base substitution G A upstream_gene_variant PRAD-CA 14 100372974 100372974 single base substitution G A intron_variant PRAD-CA 14 100372974 100372974 single base substitution G A upstream_gene_variant PRAD-CA 14 100392632 100392632 single base substitution C T intron_variant PRAD-UK 14 100212388 100212388 single base substitution G A intron_variant PRAD-UK 14 100218333 100218348 deletion of <=200bp GAAGATAAGAGGAGGC - intron_variant PRAD-UK 14 100219168 100219169 deletion of <=200bp AA - intron_variant PRAD-UK 14 100234291 100234291 single base substitution G T intron_variant PRAD-UK 14 100234291 100234291 single base substitution G T upstream_gene_variant PRAD-UK 14 100261917 100261917 single base substitution G A intron_variant PRAD-UK 14 100266295 100266295 single base substitution C T intron_variant PRAD-UK 14 100268459 100268459 single base substitution C T intron_variant PRAD-UK 14 100274072 100274072 single base substitution T C intron_variant PRAD-UK 14 100274072 100274072 single base substitution T C upstream_gene_variant PRAD-UK 14 100284085 100284085 single base substitution C T intron_variant PRAD-UK 14 100287510 100287510 single base substitution C T intron_variant PRAD-UK 14 100290512 100290512 single base substitution G T intron_variant PRAD-UK 14 100295211 100295211 single base substitution C T intron_variant PRAD-UK 14 100311385 100311385 single base substitution G C intron_variant PRAD-UK 14 100324562 100324562 single base substitution C G intron_variant PRAD-UK 14 100335042 100335042 single base substitution T C downstream_gene_variant PRAD-UK 14 100335042 100335042 single base substitution T C intron_variant PRAD-UK 14 100338022 100338022 single base substitution A G intron_variant PRAD-UK 14 100341241 100341241 single base substitution C T intron_variant PRAD-UK 14 100362308 100362308 single base substitution G A intron_variant PRAD-UK 14 100362308 100362308 single base substitution G A upstream_gene_variant PRAD-UK 14 100377288 100377288 single base substitution C T downstream_gene_variant PRAD-UK 14 100377288 100377288 single base substitution C T intron_variant PRAD-UK 14 100377288 100377288 single base substitution C T upstream_gene_variant PRAD-UK 14 100377957 100377957 single base substitution A G downstream_gene_variant PRAD-UK 14 100377957 100377957 single base substitution A G intron_variant PRAD-UK 14 100377957 100377957 single base substitution A G upstream_gene_variant PRAD-UK 14 100387901 100387901 single base substitution T A intron_variant PRAD-UK 14 100390242 100390242 single base substitution C A intron_variant PRAD-UK 14 100392227 100392255 deletion of <=200bp CCACCCAACTGCCCTAGAGATGGTCACTT - intron_variant PRAD-UK 14 100395392 100395392 single base substitution G C intron_variant PRAD-UK 14 100399868 100399868 single base substitution C T intron_variant PRAD-UK 14 100399868 100399868 single base substitution C T upstream_gene_variant PRAD-US 14 100405575 100405575 single base substitution G A downstream_gene_variant PRAD-US 14 100405575 100405575 single base substitution G A exon_variant PRAD-US 14 100405575 100405575 single base substitution G A missense_variant V733I 2197G>A PRAD-US 14 100405575 100405575 single base substitution G A missense_variant V745I 2233G>A PRAD-US 14 100405575 100405575 single base substitution G A missense_variant V764I 2290G>A READ-US 14 100317312 100317312 single base substitution C T exon_variant READ-US 14 100317312 100317312 single base substitution C T missense_variant R33W 97C>T READ-US 14 100317312 100317312 single base substitution C T missense_variant R45W 133C>T READ-US 14 100317312 100317312 single base substitution C T missense_variant R51W 151C>T READ-US 14 100317312 100317312 single base substitution C T missense_variant R64W 190C>T READ-US 14 100317312 100317312 single base substitution C T missense_variant R70W 208C>T READ-US 14 100364597 100364597 single base substitution G A exon_variant READ-US 14 100364597 100364597 single base substitution G A synonymous_variant T254T 762G>A READ-US 14 100364597 100364597 single base substitution G A synonymous_variant T272T 816G>A READ-US 14 100364597 100364597 single base substitution G A synonymous_variant T273T 819G>A READ-US 14 100364597 100364597 single base substitution G A synonymous_variant T285T 855G>A READ-US 14 100364597 100364597 single base substitution G A synonymous_variant T304T 912G>A READ-US 14 100364597 100364597 single base substitution G A synonymous_variant T9T 27G>A READ-US 14 100364597 100364597 single base substitution G A upstream_gene_variant READ-US 14 100374023 100374023 single base substitution C A exon_variant READ-US 14 100374023 100374023 single base substitution C A intron_variant READ-US 14 100374023 100374023 single base substitution C A missense_variant L340I 1018C>A READ-US 14 100374023 100374023 single base substitution C A missense_variant L341I 1021C>A READ-US 14 100374023 100374023 single base substitution C A missense_variant L353I 1057C>A READ-US 14 100374023 100374023 single base substitution C A missense_variant L372I 1114C>A RECA-EU 14 100203961 100203961 single base substitution G T upstream_gene_variant RECA-EU 14 100220751 100220751 single base substitution G A intron_variant RECA-EU 14 100241050 100241050 single base substitution T A intron_variant RECA-EU 14 100256634 100256634 single base substitution G T intron_variant RECA-EU 14 100256634 100256634 single base substitution G T upstream_gene_variant RECA-EU 14 100334619 100334619 single base substitution C G downstream_gene_variant RECA-EU 14 100334619 100334619 single base substitution C G intron_variant RECA-EU 14 100347584 100347584 single base substitution G A downstream_gene_variant RECA-EU 14 100347584 100347584 single base substitution G A intron_variant RECA-EU 14 100348041 100348041 single base substitution G T downstream_gene_variant RECA-EU 14 100348041 100348041 single base substitution G T intron_variant RECA-EU 14 100361416 100361416 single base substitution G A intron_variant RECA-EU 14 100361416 100361416 single base substitution G A upstream_gene_variant RECA-EU 14 100368943 100368943 single base substitution G T downstream_gene_variant RECA-EU 14 100368943 100368943 single base substitution G T intron_variant RECA-EU 14 100368943 100368943 single base substitution G T upstream_gene_variant RECA-EU 14 100371335 100371335 single base substitution A T downstream_gene_variant RECA-EU 14 100371335 100371335 single base substitution A T intron_variant RECA-EU 14 100371335 100371335 single base substitution A T upstream_gene_variant RECA-EU 14 100375720 100375720 single base substitution C G 3_prime_UTR_variant RECA-EU 14 100375720 100375720 single base substitution C G exon_variant RECA-EU 14 100375720 100375720 single base substitution C G synonymous_variant P368P 1104C>G RECA-EU 14 100375720 100375720 single base substitution C G synonymous_variant P369P 1107C>G RECA-EU 14 100375720 100375720 single base substitution C G synonymous_variant P381P 1143C>G RECA-EU 14 100375720 100375720 single base substitution C G synonymous_variant P400P 1200C>G RECA-EU 14 100375720 100375720 single base substitution C G synonymous_variant P73P 219C>G RECA-EU 14 100377240 100377240 single base substitution C T downstream_gene_variant RECA-EU 14 100377240 100377240 single base substitution C T intron_variant RECA-EU 14 100377240 100377240 single base substitution C T upstream_gene_variant RECA-EU 14 100384602 100384602 single base substitution T A downstream_gene_variant RECA-EU 14 100384602 100384602 single base substitution T A intron_variant RECA-EU 14 100389517 100389517 single base substitution G A intron_variant RECA-EU 14 100389631 100389631 single base substitution A T intron_variant RECA-EU 14 100396486 100396486 single base substitution C T intron_variant RECA-EU 14 100402365 100402365 single base substitution G A splice_acceptor_variant RECA-EU 14 100402365 100402365 single base substitution G A upstream_gene_variant RECA-EU 14 100403673 100403673 single base substitution C A intron_variant RECA-EU 14 100412898 100412898 single base substitution T G downstream_gene_variant SKCA-BR 14 100199430 100199430 single base substitution G A upstream_gene_variant SKCA-BR 14 100200293 100200293 single base substitution G A upstream_gene_variant SKCA-BR 14 100201984 100201984 single base substitution C T upstream_gene_variant SKCA-BR 14 100202004 100202004 single base substitution C T upstream_gene_variant SKCA-BR 14 100204693 100204693 single base substitution T C intron_variant SKCA-BR 14 100206105 100206105 single base substitution G A intron_variant SKCA-BR 14 100206268 100206268 single base substitution G A intron_variant SKCA-BR 14 100207132 100207132 single base substitution G A intron_variant SKCA-BR 14 100208363 100208363 single base substitution C T intron_variant SKCA-BR 14 100211685 100211685 single base substitution G A intron_variant SKCA-BR 14 100212660 100212660 single base substitution A G intron_variant SKCA-BR 14 100216084 100216084 single base substitution G A intron_variant SKCA-BR 14 100217166 100217166 single base substitution G A intron_variant SKCA-BR 14 100220216 100220216 single base substitution G A intron_variant SKCA-BR 14 100220691 100220691 single base substitution T C intron_variant SKCA-BR 14 100220698 100220698 single base substitution T C intron_variant SKCA-BR 14 100221252 100221252 single base substitution G A intron_variant SKCA-BR 14 100222003 100222003 single base substitution G A intron_variant SKCA-BR 14 100223708 100223708 single base substitution C T intron_variant SKCA-BR 14 100224239 100224239 single base substitution G A intron_variant SKCA-BR 14 100225481 100225481 single base substitution T G intron_variant SKCA-BR 14 100225957 100225957 single base substitution A C intron_variant SKCA-BR 14 100226264 100226264 single base substitution T G intron_variant SKCA-BR 14 100228688 100228688 single base substitution C T intron_variant SKCA-BR 14 100232924 100232924 single base substitution G A intron_variant SKCA-BR 14 100234509 100234509 single base substitution C T intron_variant SKCA-BR 14 100234509 100234509 single base substitution C T upstream_gene_variant SKCA-BR 14 100235647 100235647 single base substitution G A intron_variant SKCA-BR 14 100235647 100235647 single base substitution G A upstream_gene_variant SKCA-BR 14 100236080 100236080 single base substitution C T intron_variant SKCA-BR 14 100236080 100236080 single base substitution C T upstream_gene_variant SKCA-BR 14 100236414 100236414 single base substitution C T intron_variant SKCA-BR 14 100236414 100236414 single base substitution C T upstream_gene_variant SKCA-BR 14 100236714 100236714 insertion of <=200bp - TTCTATCTATCTA intron_variant SKCA-BR 14 100236714 100236714 insertion of <=200bp - TTCTATCTATCTA upstream_gene_variant SKCA-BR 14 100237039 100237039 single base substitution G A intron_variant SKCA-BR 14 100237039 100237039 single base substitution G A upstream_gene_variant SKCA-BR 14 100237356 100237356 single base substitution C T intron_variant SKCA-BR 14 100237356 100237356 single base substitution C T upstream_gene_variant SKCA-BR 14 100239439 100239439 single base substitution C T 5_prime_UTR_variant SKCA-BR 14 100239439 100239439 single base substitution C T intron_variant SKCA-BR 14 100239439 100239439 single base substitution C T upstream_gene_variant SKCA-BR 14 100240803 100240803 single base substitution C T intron_variant SKCA-BR 14 100241991 100241991 single base substitution T G intron_variant SKCA-BR 14 100243265 100243265 single base substitution C T intron_variant SKCA-BR 14 100244885 100244885 single base substitution C T intron_variant SKCA-BR 14 100244973 100244973 single base substitution T C intron_variant SKCA-BR 14 100245318 100245318 single base substitution A G intron_variant SKCA-BR 14 100245938 100245938 single base substitution C T intron_variant SKCA-BR 14 100246122 100246122 single base substitution G A intron_variant SKCA-BR 14 100246798 100246798 single base substitution T A intron_variant SKCA-BR 14 100247491 100247491 single base substitution C T intron_variant SKCA-BR 14 100250551 100250551 single base substitution C T intron_variant SKCA-BR 14 100253095 100253095 single base substitution C T intron_variant SKCA-BR 14 100253602 100253602 single base substitution A G intron_variant SKCA-BR 14 100256166 100256166 single base substitution C T intron_variant SKCA-BR 14 100256166 100256166 single base substitution C T upstream_gene_variant SKCA-BR 14 100256724 100256724 single base substitution G A intron_variant SKCA-BR 14 100256724 100256724 single base substitution G A upstream_gene_variant SKCA-BR 14 100257202 100257202 insertion of <=200bp - CTTTTTTTTTT intron_variant SKCA-BR 14 100257202 100257202 insertion of <=200bp - CTTTTTTTTTT upstream_gene_variant SKCA-BR 14 100257281 100257281 single base substitution A G intron_variant SKCA-BR 14 100257281 100257281 single base substitution A G upstream_gene_variant SKCA-BR 14 100259381 100259381 single base substitution T C intron_variant SKCA-BR 14 100259381 100259381 single base substitution T C upstream_gene_variant SKCA-BR 14 100260395 100260395 single base substitution A T intron_variant SKCA-BR 14 100260906 100260906 single base substitution A G intron_variant SKCA-BR 14 100261358 100261358 single base substitution C T intron_variant SKCA-BR 14 100261813 100261813 single base substitution G T intron_variant SKCA-BR 14 100262265 100262265 single base substitution G A intron_variant SKCA-BR 14 100262523 100262543 deletion of <=200bp CAGAGAGAGAGAGAGAGAGAG - intron_variant SKCA-BR 14 100262910 100262910 single base substitution A C intron_variant SKCA-BR 14 100264466 100264466 single base substitution C T intron_variant SKCA-BR 14 100267437 100267437 single base substitution G A intron_variant SKCA-BR 14 100267680 100267680 single base substitution C T intron_variant SKCA-BR 14 100270330 100270330 single base substitution C T intron_variant SKCA-BR 14 100270355 100270355 single base substitution A C intron_variant SKCA-BR 14 100271124 100271124 single base substitution C T intron_variant SKCA-BR 14 100271124 100271124 single base substitution C T upstream_gene_variant SKCA-BR 14 100271195 100271195 single base substitution C T intron_variant SKCA-BR 14 100271195 100271195 single base substitution C T upstream_gene_variant SKCA-BR 14 100275675 100275675 single base substitution A T intron_variant SKCA-BR 14 100275675 100275675 single base substitution A T upstream_gene_variant SKCA-BR 14 100278151 100278153 deletion of <=200bp AAG - intron_variant SKCA-BR 14 100283287 100283287 single base substitution G C intron_variant SKCA-BR 14 100283534 100283534 single base substitution T C intron_variant SKCA-BR 14 100283951 100283951 single base substitution G A intron_variant SKCA-BR 14 100288226 100288226 single base substitution A G intron_variant SKCA-BR 14 100288537 100288537 single base substitution G T intron_variant SKCA-BR 14 100290328 100290328 single base substitution C T intron_variant SKCA-BR 14 100290708 100290708 single base substitution G A intron_variant SKCA-BR 14 100290865 100290865 single base substitution A G intron_variant SKCA-BR 14 100291900 100291900 single base substitution C T intron_variant SKCA-BR 14 100292812 100292812 single base substitution C T intron_variant SKCA-BR 14 100296168 100296168 single base substitution C T intron_variant SKCA-BR 14 100297628 100297628 single base substitution C T intron_variant SKCA-BR 14 100298185 100298186 deletion of <=200bp AT - intron_variant SKCA-BR 14 100298559 100298559 single base substitution C T intron_variant SKCA-BR 14 100300646 100300646 insertion of <=200bp - CT intron_variant SKCA-BR 14 100300646 100300646 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 14 100301520 100301520 single base substitution C T intron_variant SKCA-BR 14 100301520 100301520 single base substitution C T upstream_gene_variant SKCA-BR 14 100301757 100301757 single base substitution C T intron_variant SKCA-BR 14 100301757 100301757 single base substitution C T upstream_gene_variant SKCA-BR 14 100303328 100303328 insertion of <=200bp - AT intron_variant SKCA-BR 14 100303328 100303328 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 14 100305179 100305179 single base substitution C T intron_variant SKCA-BR 14 100305179 100305179 single base substitution C T upstream_gene_variant SKCA-BR 14 100305180 100305180 single base substitution T A intron_variant SKCA-BR 14 100305180 100305180 single base substitution T A upstream_gene_variant SKCA-BR 14 100305255 100305255 insertion of <=200bp - CGCGCGTGTGTGTGTGTGTGTGT intron_variant SKCA-BR 14 100305255 100305255 insertion of <=200bp - CGCGCGTGTGTGTGTGTGTGTGT upstream_gene_variant SKCA-BR 14 100305971 100305971 single base substitution G A intron_variant SKCA-BR 14 100306410 100306410 single base substitution C T intron_variant SKCA-BR 14 100311394 100311394 single base substitution G A intron_variant SKCA-BR 14 100311966 100311966 single base substitution A G intron_variant SKCA-BR 14 100312386 100312386 insertion of <=200bp - CA intron_variant SKCA-BR 14 100312386 100312386 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 14 100312963 100312963 single base substitution C T intron_variant SKCA-BR 14 100312963 100312963 single base substitution C T upstream_gene_variant SKCA-BR 14 100313617 100313617 single base substitution C T intron_variant SKCA-BR 14 100313617 100313617 single base substitution C T upstream_gene_variant SKCA-BR 14 100315842 100315844 deletion of <=200bp TTG - intron_variant SKCA-BR 14 100315842 100315844 deletion of <=200bp TTG - upstream_gene_variant SKCA-BR 14 100315864 100315864 single base substitution G A intron_variant SKCA-BR 14 100315864 100315864 single base substitution G A upstream_gene_variant SKCA-BR 14 100319388 100319388 single base substitution C T intron_variant SKCA-BR 14 100319738 100319738 single base substitution T G intron_variant SKCA-BR 14 100323393 100323393 single base substitution G T intron_variant SKCA-BR 14 100324311 100324311 single base substitution G A intron_variant SKCA-BR 14 100326464 100326464 single base substitution C T intron_variant SKCA-BR 14 100327882 100327882 single base substitution G A intron_variant SKCA-BR 14 100327882 100327882 single base substitution G A upstream_gene_variant SKCA-BR 14 100328359 100328359 single base substitution C T intron_variant SKCA-BR 14 100328359 100328359 single base substitution C T upstream_gene_variant SKCA-BR 14 100330024 100330024 single base substitution C T intron_variant SKCA-BR 14 100330024 100330024 single base substitution C T upstream_gene_variant SKCA-BR 14 100330557 100330557 single base substitution C T intron_variant SKCA-BR 14 100330557 100330557 single base substitution C T upstream_gene_variant SKCA-BR 14 100331031 100331031 single base substitution C T intron_variant SKCA-BR 14 100331031 100331031 single base substitution C T upstream_gene_variant SKCA-BR 14 100332253 100332253 single base substitution A C downstream_gene_variant SKCA-BR 14 100332253 100332253 single base substitution A C intron_variant SKCA-BR 14 100332295 100332295 single base substitution C T downstream_gene_variant SKCA-BR 14 100332295 100332295 single base substitution C T intron_variant SKCA-BR 14 100334752 100334752 single base substitution G A downstream_gene_variant SKCA-BR 14 100334752 100334752 single base substitution G A intron_variant SKCA-BR 14 100336950 100336950 single base substitution T G downstream_gene_variant SKCA-BR 14 100336950 100336950 single base substitution T G intron_variant SKCA-BR 14 100337140 100337140 single base substitution C T intron_variant SKCA-BR 14 100337146 100337146 single base substitution C A intron_variant SKCA-BR 14 100337854 100337855 deletion of <=200bp GA - intron_variant SKCA-BR 14 100340190 100340190 single base substitution C T intron_variant SKCA-BR 14 100340523 100340523 single base substitution C T intron_variant SKCA-BR 14 100341154 100341154 single base substitution C T intron_variant SKCA-BR 14 100341874 100341874 single base substitution C T intron_variant SKCA-BR 14 100343442 100343442 single base substitution C T intron_variant SKCA-BR 14 100344430 100344430 single base substitution G A intron_variant SKCA-BR 14 100344500 100344500 single base substitution C T intron_variant SKCA-BR 14 100345076 100345076 single base substitution G A downstream_gene_variant SKCA-BR 14 100345076 100345076 single base substitution G A intron_variant SKCA-BR 14 100350400 100350400 single base substitution C T downstream_gene_variant SKCA-BR 14 100350400 100350400 single base substitution C T intron_variant SKCA-BR 14 100353870 100353870 single base substitution T C downstream_gene_variant SKCA-BR 14 100353870 100353870 single base substitution T C intron_variant SKCA-BR 14 100353878 100353878 single base substitution A C downstream_gene_variant SKCA-BR 14 100353878 100353878 single base substitution A C intron_variant SKCA-BR 14 100354384 100354384 single base substitution C T downstream_gene_variant SKCA-BR 14 100354384 100354384 single base substitution C T intron_variant SKCA-BR 14 100354577 100354577 single base substitution T A downstream_gene_variant SKCA-BR 14 100354577 100354577 single base substitution T A intron_variant SKCA-BR 14 100356016 100356016 single base substitution G A downstream_gene_variant SKCA-BR 14 100356016 100356016 single base substitution G A intron_variant SKCA-BR 14 100356016 100356016 single base substitution G A upstream_gene_variant SKCA-BR 14 100359773 100359773 single base substitution A G intron_variant SKCA-BR 14 100359773 100359773 single base substitution A G upstream_gene_variant SKCA-BR 14 100360535 100360535 single base substitution C T intron_variant SKCA-BR 14 100360535 100360535 single base substitution C T upstream_gene_variant SKCA-BR 14 100360651 100360651 single base substitution C T intron_variant SKCA-BR 14 100360651 100360651 single base substitution C T upstream_gene_variant SKCA-BR 14 100360831 100360831 single base substitution C T exon_variant SKCA-BR 14 100360831 100360831 single base substitution C T intron_variant SKCA-BR 14 100360831 100360831 single base substitution C T upstream_gene_variant SKCA-BR 14 100361168 100361168 single base substitution T A intron_variant SKCA-BR 14 100361168 100361168 single base substitution T A upstream_gene_variant SKCA-BR 14 100365088 100365088 insertion of <=200bp - CA intron_variant SKCA-BR 14 100365088 100365088 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 14 100365088 100365089 deletion of <=200bp CA - intron_variant SKCA-BR 14 100365088 100365089 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 14 100365678 100365678 single base substitution G A intron_variant SKCA-BR 14 100365678 100365678 single base substitution G A upstream_gene_variant SKCA-BR 14 100365729 100365729 single base substitution T G intron_variant SKCA-BR 14 100365729 100365729 single base substitution T G upstream_gene_variant SKCA-BR 14 100367644 100367644 single base substitution C T downstream_gene_variant SKCA-BR 14 100367644 100367644 single base substitution C T intron_variant SKCA-BR 14 100367963 100367963 single base substitution C T downstream_gene_variant SKCA-BR 14 100367963 100367963 single base substitution C T intron_variant SKCA-BR 14 100371101 100371101 single base substitution G A downstream_gene_variant SKCA-BR 14 100371101 100371101 single base substitution G A intron_variant SKCA-BR 14 100371101 100371101 single base substitution G A upstream_gene_variant SKCA-BR 14 100371115 100371115 single base substitution T C downstream_gene_variant SKCA-BR 14 100371115 100371115 single base substitution T C intron_variant SKCA-BR 14 100371115 100371115 single base substitution T C upstream_gene_variant SKCA-BR 14 100371128 100371128 single base substitution A C downstream_gene_variant SKCA-BR 14 100371128 100371128 single base substitution A C intron_variant SKCA-BR 14 100371128 100371128 single base substitution A C upstream_gene_variant SKCA-BR 14 100371238 100371238 single base substitution G A downstream_gene_variant SKCA-BR 14 100371238 100371238 single base substitution G A intron_variant SKCA-BR 14 100371238 100371238 single base substitution G A upstream_gene_variant SKCA-BR 14 100372012 100372012 single base substitution A T downstream_gene_variant SKCA-BR 14 100372012 100372012 single base substitution A T intron_variant SKCA-BR 14 100372012 100372012 single base substitution A T upstream_gene_variant SKCA-BR 14 100372999 100372999 single base substitution G A intron_variant SKCA-BR 14 100372999 100372999 single base substitution G A upstream_gene_variant SKCA-BR 14 100374359 100374359 single base substitution C T intron_variant SKCA-BR 14 100375214 100375214 single base substitution G A intron_variant SKCA-BR 14 100375806 100375806 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 100375806 100375806 single base substitution G A downstream_gene_variant SKCA-BR 14 100375806 100375806 single base substitution G A exon_variant SKCA-BR 14 100375806 100375806 single base substitution G A missense_variant G102E 305G>A SKCA-BR 14 100375806 100375806 single base substitution G A missense_variant G398E 1193G>A SKCA-BR 14 100375806 100375806 single base substitution G A missense_variant G410E 1229G>A SKCA-BR 14 100375806 100375806 single base substitution G A missense_variant G429E 1286G>A SKCA-BR 14 100378732 100378732 single base substitution C T downstream_gene_variant SKCA-BR 14 100378732 100378732 single base substitution C T intron_variant SKCA-BR 14 100378732 100378732 single base substitution C T upstream_gene_variant SKCA-BR 14 100379950 100379950 single base substitution A G downstream_gene_variant SKCA-BR 14 100379950 100379950 single base substitution A G intron_variant SKCA-BR 14 100379950 100379950 single base substitution A G upstream_gene_variant SKCA-BR 14 100381749 100381749 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 14 100381749 100381749 insertion of <=200bp - CA exon_variant SKCA-BR 14 100381749 100381749 insertion of <=200bp - CA intron_variant SKCA-BR 14 100383157 100383157 single base substitution C T downstream_gene_variant SKCA-BR 14 100383157 100383157 single base substitution C T intron_variant SKCA-BR 14 100384032 100384036 deletion of <=200bp TTGTG - downstream_gene_variant SKCA-BR 14 100384032 100384036 deletion of <=200bp TTGTG - intron_variant SKCA-BR 14 100385200 100385200 single base substitution C T downstream_gene_variant SKCA-BR 14 100385200 100385200 single base substitution C T intron_variant SKCA-BR 14 100385755 100385755 insertion of <=200bp - GCACACAGACACA downstream_gene_variant SKCA-BR 14 100385755 100385755 insertion of <=200bp - GCACACAGACACA intron_variant SKCA-BR 14 100385762 100385762 insertion of <=200bp - GACACACACACAGACAC downstream_gene_variant SKCA-BR 14 100385762 100385762 insertion of <=200bp - GACACACACACAGACAC intron_variant SKCA-BR 14 100385762 100385762 insertion of <=200bp - GACACACACACAGAC downstream_gene_variant SKCA-BR 14 100385762 100385762 insertion of <=200bp - GACACACACACAGAC intron_variant SKCA-BR 14 100385764 100385764 insertion of <=200bp - CACACACACAG downstream_gene_variant SKCA-BR 14 100385764 100385764 insertion of <=200bp - CACACACACAG intron_variant SKCA-BR 14 100389897 100389897 single base substitution T C intron_variant SKCA-BR 14 100389944 100389944 single base substitution T C intron_variant SKCA-BR 14 100390187 100390187 single base substitution T C intron_variant SKCA-BR 14 100391258 100391258 single base substitution C T intron_variant SKCA-BR 14 100391294 100391294 single base substitution C T intron_variant SKCA-BR 14 100392558 100392558 single base substitution G T intron_variant SKCA-BR 14 100392620 100392620 insertion of <=200bp - GT intron_variant SKCA-BR 14 100394282 100394282 single base substitution G A intron_variant SKCA-BR 14 100394314 100394314 single base substitution G T intron_variant SKCA-BR 14 100394315 100394315 single base substitution G A intron_variant SKCA-BR 14 100394326 100394326 single base substitution G T intron_variant SKCA-BR 14 100394331 100394331 single base substitution T A intron_variant SKCA-BR 14 100394341 100394341 single base substitution G A intron_variant SKCA-BR 14 100394355 100394355 single base substitution T A intron_variant SKCA-BR 14 100394359 100394359 single base substitution G T intron_variant SKCA-BR 14 100394368 100394368 single base substitution G A intron_variant SKCA-BR 14 100394373 100394373 single base substitution T A intron_variant SKCA-BR 14 100394380 100394380 single base substitution G T intron_variant SKCA-BR 14 100394386 100394386 single base substitution G T intron_variant SKCA-BR 14 100394397 100394397 single base substitution T A intron_variant SKCA-BR 14 100394403 100394403 insertion of <=200bp - TAGTAGA intron_variant SKCA-BR 14 100394404 100394404 single base substitution G A intron_variant SKCA-BR 14 100394407 100394407 single base substitution G A intron_variant SKCA-BR 14 100394410 100394410 single base substitution G A intron_variant SKCA-BR 14 100394419 100394419 single base substitution G T intron_variant SKCA-BR 14 100394436 100394436 single base substitution T A intron_variant SKCA-BR 14 100394440 100394440 single base substitution G A intron_variant SKCA-BR 14 100394442 100394442 single base substitution A T intron_variant SKCA-BR 14 100394454 100394454 single base substitution T A intron_variant SKCA-BR 14 100394459 100394459 single base substitution G A intron_variant SKCA-BR 14 100394462 100394462 single base substitution G A intron_variant SKCA-BR 14 100394464 100394464 single base substitution G T intron_variant SKCA-BR 14 100394465 100394465 single base substitution G A intron_variant SKCA-BR 14 100394470 100394470 single base substitution G T intron_variant SKCA-BR 14 100394475 100394475 single base substitution T A intron_variant SKCA-BR 14 100394481 100394481 single base substitution T A intron_variant SKCA-BR 14 100394546 100394546 single base substitution A G intron_variant SKCA-BR 14 100394556 100394556 single base substitution T A intron_variant SKCA-BR 14 100394566 100394566 single base substitution G A intron_variant SKCA-BR 14 100394568 100394568 single base substitution T A intron_variant SKCA-BR 14 100398262 100398262 single base substitution C T intron_variant SKCA-BR 14 100398262 100398262 single base substitution C T upstream_gene_variant SKCA-BR 14 100398591 100398591 single base substitution G A intron_variant SKCA-BR 14 100398591 100398591 single base substitution G A upstream_gene_variant SKCA-BR 14 100398983 100398983 insertion of <=200bp - TAA intron_variant SKCA-BR 14 100398983 100398983 insertion of <=200bp - TAA upstream_gene_variant SKCA-BR 14 100401132 100401132 single base substitution C T intron_variant SKCA-BR 14 100401132 100401132 single base substitution C T upstream_gene_variant SKCA-BR 14 100402118 100402118 insertion of <=200bp - CA intron_variant SKCA-BR 14 100402118 100402118 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 14 100402974 100402974 single base substitution T G intron_variant SKCA-BR 14 100413270 100413270 single base substitution G A downstream_gene_variant SKCM-US 14 100317273 100317273 single base substitution G A exon_variant SKCM-US 14 100317273 100317273 single base substitution G A missense_variant D20N 58G>A SKCM-US 14 100317273 100317273 single base substitution G A missense_variant D32N 94G>A SKCM-US 14 100317273 100317273 single base substitution G A missense_variant D38N 112G>A SKCM-US 14 100317273 100317273 single base substitution G A missense_variant D51N 151G>A SKCM-US 14 100317273 100317273 single base substitution G A missense_variant D57N 169G>A SKCM-US 14 100331891 100331891 single base substitution C T 3_prime_UTR_variant SKCM-US 14 100331891 100331891 single base substitution C T exon_variant SKCM-US 14 100331891 100331891 single base substitution C T synonymous_variant V103V 309C>T SKCM-US 14 100331891 100331891 single base substitution C T synonymous_variant V66V 198C>T SKCM-US 14 100331891 100331891 single base substitution C T synonymous_variant V78V 234C>T SKCM-US 14 100331891 100331891 single base substitution C T synonymous_variant V84V 252C>T SKCM-US 14 100331891 100331891 single base substitution C T synonymous_variant V97V 291C>T SKCM-US 14 100331891 100331891 single base substitution C T upstream_gene_variant SKCM-US 14 100341315 100341315 single base substitution C T intron_variant SKCM-US 14 100341315 100341315 single base substitution C T missense_variant S113L 338C>T SKCM-US 14 100341315 100341315 single base substitution C T missense_variant S131L 392C>T SKCM-US 14 100341315 100341315 single base substitution C T missense_variant S144L 431C>T SKCM-US 14 100344868 100344868 single base substitution C T downstream_gene_variant SKCM-US 14 100344868 100344868 single base substitution C T exon_variant SKCM-US 14 100344868 100344868 single base substitution C T stop_gained R113* 337C>T SKCM-US 14 100344868 100344868 single base substitution C T stop_gained R131* 391C>T SKCM-US 14 100344868 100344868 single base substitution C T stop_gained R132* 394C>T SKCM-US 14 100344868 100344868 single base substitution C T stop_gained R144* 430C>T SKCM-US 14 100344868 100344868 single base substitution C T stop_gained R150* 448C>T SKCM-US 14 100344868 100344868 single base substitution C T stop_gained R163* 487C>T SKCM-US 14 100344868 100344868 single base substitution C T stop_gained R29* 85C>T SKCM-US 14 100344907 100344907 single base substitution C T downstream_gene_variant SKCM-US 14 100344907 100344907 single base substitution C T exon_variant SKCM-US 14 100344907 100344907 single base substitution C T missense_variant R126C 376C>T SKCM-US 14 100344907 100344907 single base substitution C T missense_variant R144C 430C>T SKCM-US 14 100344907 100344907 single base substitution C T missense_variant R145C 433C>T SKCM-US 14 100344907 100344907 single base substitution C T missense_variant R157C 469C>T SKCM-US 14 100344907 100344907 single base substitution C T missense_variant R176C 526C>T SKCM-US 14 100344907 100344907 single base substitution C T missense_variant R42C 124C>T SKCM-US 14 100363551 100363551 single base substitution C T exon_variant SKCM-US 14 100363551 100363551 single base substitution C T synonymous_variant F218F 654C>T SKCM-US 14 100363551 100363551 single base substitution C T synonymous_variant F236F 708C>T SKCM-US 14 100363551 100363551 single base substitution C T synonymous_variant F237F 711C>T SKCM-US 14 100363551 100363551 single base substitution C T synonymous_variant F249F 747C>T SKCM-US 14 100363551 100363551 single base substitution C T synonymous_variant F268F 804C>T SKCM-US 14 100363551 100363551 single base substitution C T upstream_gene_variant SKCM-US 14 100363618 100363618 single base substitution G A exon_variant SKCM-US 14 100363618 100363618 single base substitution G A missense_variant D241N 721G>A SKCM-US 14 100363618 100363618 single base substitution G A missense_variant D259N 775G>A SKCM-US 14 100363618 100363618 single base substitution G A missense_variant D260N 778G>A SKCM-US 14 100363618 100363618 single base substitution G A missense_variant D272N 814G>A SKCM-US 14 100363618 100363618 single base substitution G A missense_variant D291N 871G>A SKCM-US 14 100363618 100363618 single base substitution G A upstream_gene_variant SKCM-US 14 100364580 100364580 single base substitution C T exon_variant SKCM-US 14 100364580 100364580 single base substitution C T missense_variant H249Y 745C>T SKCM-US 14 100364580 100364580 single base substitution C T missense_variant H267Y 799C>T SKCM-US 14 100364580 100364580 single base substitution C T missense_variant H268Y 802C>T SKCM-US 14 100364580 100364580 single base substitution C T missense_variant H280Y 838C>T SKCM-US 14 100364580 100364580 single base substitution C T missense_variant H299Y 895C>T SKCM-US 14 100364580 100364580 single base substitution C T missense_variant H4Y 10C>T SKCM-US 14 100364580 100364580 single base substitution C T upstream_gene_variant SKCM-US 14 100374010 100374010 single base substitution C T exon_variant SKCM-US 14 100374010 100374010 single base substitution C T intron_variant SKCM-US 14 100374010 100374010 single base substitution C T synonymous_variant S335S 1005C>T SKCM-US 14 100374010 100374010 single base substitution C T synonymous_variant S336S 1008C>T SKCM-US 14 100374010 100374010 single base substitution C T synonymous_variant S348S 1044C>T SKCM-US 14 100374010 100374010 single base substitution C T synonymous_variant S367S 1101C>T SKCM-US 14 100374016 100374016 single base substitution C T exon_variant SKCM-US 14 100374016 100374016 single base substitution C T intron_variant SKCM-US 14 100374016 100374016 single base substitution C T synonymous_variant D337D 1011C>T SKCM-US 14 100374016 100374016 single base substitution C T synonymous_variant D338D 1014C>T SKCM-US 14 100374016 100374016 single base substitution C T synonymous_variant D350D 1050C>T SKCM-US 14 100374016 100374016 single base substitution C T synonymous_variant D369D 1107C>T SKCM-US 14 100376662 100376662 single base substitution C T downstream_gene_variant SKCM-US 14 100376662 100376662 single base substitution C T exon_variant SKCM-US 14 100376662 100376662 single base substitution C T synonymous_variant I133I 399C>T SKCM-US 14 100376662 100376662 single base substitution C T synonymous_variant I429I 1287C>T SKCM-US 14 100376662 100376662 single base substitution C T synonymous_variant I441I 1323C>T SKCM-US 14 100376662 100376662 single base substitution C T synonymous_variant I460I 1380C>T SKCM-US 14 100376662 100376662 single base substitution C T upstream_gene_variant SKCM-US 14 100377902 100377902 single base substitution C T downstream_gene_variant SKCM-US 14 100377902 100377902 single base substitution C T exon_variant SKCM-US 14 100377902 100377902 single base substitution C T missense_variant R483C 1447C>T SKCM-US 14 100377902 100377902 single base substitution C T missense_variant R495C 1483C>T SKCM-US 14 100377902 100377902 single base substitution C T missense_variant R514C 1540C>T SKCM-US 14 100377902 100377902 single base substitution C T upstream_gene_variant SKCM-US 14 100380551 100380551 single base substitution C T downstream_gene_variant SKCM-US 14 100380551 100380551 single base substitution C T exon_variant SKCM-US 14 100380551 100380551 single base substitution C T synonymous_variant A498A 1494C>T SKCM-US 14 100380551 100380551 single base substitution C T synonymous_variant A510A 1530C>T SKCM-US 14 100380551 100380551 single base substitution C T synonymous_variant A529A 1587C>T SKCM-US 14 100380551 100380551 single base substitution C T upstream_gene_variant SKCM-US 14 100380631 100380631 single base substitution C T downstream_gene_variant SKCM-US 14 100380631 100380631 single base substitution C T exon_variant SKCM-US 14 100380631 100380631 single base substitution C T missense_variant P525L 1574C>T SKCM-US 14 100380631 100380631 single base substitution C T missense_variant P537L 1610C>T SKCM-US 14 100380631 100380631 single base substitution C T missense_variant P556L 1667C>T SKCM-US 14 100380631 100380631 single base substitution C T upstream_gene_variant SKCM-US 14 100380924 100380924 single base substitution G A downstream_gene_variant SKCM-US 14 100380924 100380924 single base substitution G A exon_variant SKCM-US 14 100380924 100380924 single base substitution G A missense_variant G536R 1606G>A SKCM-US 14 100380924 100380924 single base substitution G A missense_variant G548R 1642G>A SKCM-US 14 100380924 100380924 single base substitution G A missense_variant G567R 1699G>A SKCM-US 14 100384146 100384146 single base substitution C T downstream_gene_variant SKCM-US 14 100384146 100384146 single base substitution C T missense_variant P582S 1744C>T SKCM-US 14 100384146 100384146 single base substitution C T missense_variant P594S 1780C>T SKCM-US 14 100384146 100384146 single base substitution C T missense_variant P613S 1837C>T SKCM-US 14 100384146 100384146 single base substitution C T splice_region_variant SKCM-US 14 100387194 100387194 single base substitution C T exon_variant SKCM-US 14 100387194 100387194 single base substitution C T missense_variant S618F 1853C>T SKCM-US 14 100387194 100387194 single base substitution C T missense_variant S630F 1889C>T SKCM-US 14 100387194 100387194 single base substitution C T missense_variant S649F 1946C>T SKCM-US 14 100402664 100402664 single base substitution C T 3_prime_UTR_variant SKCM-US 14 100402664 100402664 single base substitution C T exon_variant SKCM-US 14 100402664 100402664 single base substitution C T synonymous_variant I684I 2052C>T SKCM-US 14 100402664 100402664 single base substitution C T synonymous_variant I696I 2088C>T SKCM-US 14 100402664 100402664 single base substitution C T synonymous_variant I715I 2145C>T SKCM-US 14 100404244 100404244 single base substitution T G 3_prime_UTR_variant SKCM-US 14 100404244 100404244 single base substitution T G exon_variant SKCM-US 14 100404244 100404244 single base substitution T G missense_variant V717G 2150T>G SKCM-US 14 100404244 100404244 single base substitution T G missense_variant V729G 2186T>G SKCM-US 14 100404244 100404244 single base substitution T G missense_variant V748G 2243T>G SKCM-US 14 100405642 100405642 single base substitution C T downstream_gene_variant SKCM-US 14 100405642 100405642 single base substitution C T exon_variant SKCM-US 14 100405642 100405642 single base substitution C T missense_variant S755L 2264C>T SKCM-US 14 100405642 100405642 single base substitution C T missense_variant S767L 2300C>T SKCM-US 14 100405642 100405642 single base substitution C T missense_variant S786L 2357C>T SKCM-US 14 100406351 100406351 single base substitution A G downstream_gene_variant SKCM-US 14 100406351 100406351 single base substitution A G exon_variant SKCM-US 14 100406351 100406351 single base substitution A G missense_variant S772G 2314A>G SKCM-US 14 100406351 100406351 single base substitution A G missense_variant S784G 2350A>G SKCM-US 14 100406351 100406351 single base substitution A G missense_variant S803G 2407A>G SKCM-US 14 100406371 100406371 single base substitution C T downstream_gene_variant SKCM-US 14 100406371 100406371 single base substitution C T exon_variant SKCM-US 14 100406371 100406371 single base substitution C T synonymous_variant V778V 2334C>T SKCM-US 14 100406371 100406371 single base substitution C T synonymous_variant V790V 2370C>T SKCM-US 14 100406371 100406371 single base substitution C T synonymous_variant V809V 2427C>T STAD-US 14 100317246 100317246 single base substitution G T exon_variant STAD-US 14 100317246 100317246 single base substitution G T stop_gained E11* 31G>T STAD-US 14 100317246 100317246 single base substitution G T stop_gained E23* 67G>T STAD-US 14 100317246 100317246 single base substitution G T stop_gained E29* 85G>T STAD-US 14 100317246 100317246 single base substitution G T stop_gained E42* 124G>T STAD-US 14 100317246 100317246 single base substitution G T stop_gained E48* 142G>T STAD-US 14 100363529 100363529 single base substitution C T exon_variant STAD-US 14 100363529 100363529 single base substitution C T missense_variant P211L 632C>T STAD-US 14 100363529 100363529 single base substitution C T missense_variant P229L 686C>T STAD-US 14 100363529 100363529 single base substitution C T missense_variant P230L 689C>T STAD-US 14 100363529 100363529 single base substitution C T missense_variant P242L 725C>T STAD-US 14 100363529 100363529 single base substitution C T missense_variant P261L 782C>T STAD-US 14 100363529 100363529 single base substitution C T upstream_gene_variant STAD-US 14 100363543 100363543 single base substitution G A exon_variant STAD-US 14 100363543 100363543 single base substitution G A missense_variant V216I 646G>A STAD-US 14 100363543 100363543 single base substitution G A missense_variant V234I 700G>A STAD-US 14 100363543 100363543 single base substitution G A missense_variant V235I 703G>A STAD-US 14 100363543 100363543 single base substitution G A missense_variant V247I 739G>A STAD-US 14 100363543 100363543 single base substitution G A missense_variant V266I 796G>A STAD-US 14 100363543 100363543 single base substitution G A upstream_gene_variant STAD-US 14 100364621 100364621 single base substitution C T exon_variant STAD-US 14 100364621 100364621 single base substitution C T synonymous_variant G17G 51C>T STAD-US 14 100364621 100364621 single base substitution C T synonymous_variant G262G 786C>T STAD-US 14 100364621 100364621 single base substitution C T synonymous_variant G280G 840C>T STAD-US 14 100364621 100364621 single base substitution C T synonymous_variant G281G 843C>T STAD-US 14 100364621 100364621 single base substitution C T synonymous_variant G293G 879C>T STAD-US 14 100364621 100364621 single base substitution C T synonymous_variant G312G 936C>T STAD-US 14 100364621 100364621 single base substitution C T upstream_gene_variant STAD-US 14 100367326 100367326 single base substitution G T downstream_gene_variant STAD-US 14 100367326 100367326 single base substitution G T exon_variant STAD-US 14 100367326 100367326 single base substitution G T stop_gained G307* 919G>T STAD-US 14 100367326 100367326 single base substitution G T stop_gained G308* 922G>T STAD-US 14 100367326 100367326 single base substitution G T stop_gained G320* 958G>T STAD-US 14 100367326 100367326 single base substitution G T stop_gained G339* 1015G>T STAD-US 14 100367326 100367326 single base substitution G T stop_gained G44* 130G>T STAD-US 14 100374049 100374049 single base substitution A C exon_variant STAD-US 14 100374049 100374049 single base substitution A C intron_variant STAD-US 14 100374049 100374049 single base substitution A C missense_variant E348D 1044A>C STAD-US 14 100374049 100374049 single base substitution A C missense_variant E349D 1047A>C STAD-US 14 100374049 100374049 single base substitution A C missense_variant E361D 1083A>C STAD-US 14 100374049 100374049 single base substitution A C missense_variant E380D 1140A>C STAD-US 14 100375723 100375723 single base substitution G T 3_prime_UTR_variant STAD-US 14 100375723 100375723 single base substitution G T exon_variant STAD-US 14 100375723 100375723 single base substitution G T synonymous_variant T369T 1107G>T STAD-US 14 100375723 100375723 single base substitution G T synonymous_variant T370T 1110G>T STAD-US 14 100375723 100375723 single base substitution G T synonymous_variant T382T 1146G>T STAD-US 14 100375723 100375723 single base substitution G T synonymous_variant T401T 1203G>T STAD-US 14 100375723 100375723 single base substitution G T synonymous_variant T74T 222G>T STAD-US 14 100377764 100377764 single base substitution A G downstream_gene_variant STAD-US 14 100377764 100377764 single base substitution A G exon_variant STAD-US 14 100377764 100377764 single base substitution A G missense_variant N141D 421A>G STAD-US 14 100377764 100377764 single base substitution A G missense_variant N437D 1309A>G STAD-US 14 100377764 100377764 single base substitution A G missense_variant N449D 1345A>G STAD-US 14 100377764 100377764 single base substitution A G missense_variant N468D 1402A>G STAD-US 14 100377764 100377764 single base substitution A G upstream_gene_variant STAD-US 14 100377791 100377791 single base substitution G A downstream_gene_variant STAD-US 14 100377791 100377791 single base substitution G A exon_variant STAD-US 14 100377791 100377791 single base substitution G A missense_variant A150T 448G>A STAD-US 14 100377791 100377791 single base substitution G A missense_variant A446T 1336G>A STAD-US 14 100377791 100377791 single base substitution G A missense_variant A458T 1372G>A STAD-US 14 100377791 100377791 single base substitution G A missense_variant A477T 1429G>A STAD-US 14 100377791 100377791 single base substitution G A upstream_gene_variant STAD-US 14 100377888 100377888 single base substitution A G downstream_gene_variant STAD-US 14 100377888 100377888 single base substitution A G exon_variant STAD-US 14 100377888 100377888 single base substitution A G missense_variant N478S 1433A>G STAD-US 14 100377888 100377888 single base substitution A G missense_variant N490S 1469A>G STAD-US 14 100377888 100377888 single base substitution A G missense_variant N509S 1526A>G STAD-US 14 100377888 100377888 single base substitution A G synonymous_variant ?182 STAD-US 14 100377888 100377888 single base substitution A G upstream_gene_variant STAD-US 14 100377910 100377910 single base substitution G T downstream_gene_variant STAD-US 14 100377910 100377910 single base substitution G T exon_variant STAD-US 14 100377910 100377910 single base substitution G T synonymous_variant T485T 1455G>T STAD-US 14 100377910 100377910 single base substitution G T synonymous_variant T497T 1491G>T STAD-US 14 100377910 100377910 single base substitution G T synonymous_variant T516T 1548G>T STAD-US 14 100377910 100377910 single base substitution G T upstream_gene_variant STAD-US 14 100380551 100380551 single base substitution C T downstream_gene_variant STAD-US 14 100380551 100380551 single base substitution C T exon_variant STAD-US 14 100380551 100380551 single base substitution C T synonymous_variant A498A 1494C>T STAD-US 14 100380551 100380551 single base substitution C T synonymous_variant A510A 1530C>T STAD-US 14 100380551 100380551 single base substitution C T synonymous_variant A529A 1587C>T STAD-US 14 100380551 100380551 single base substitution C T upstream_gene_variant STAD-US 14 100380563 100380563 single base substitution C T downstream_gene_variant STAD-US 14 100380563 100380563 single base substitution C T exon_variant STAD-US 14 100380563 100380563 single base substitution C T synonymous_variant G502G 1506C>T STAD-US 14 100380563 100380563 single base substitution C T synonymous_variant G514G 1542C>T STAD-US 14 100380563 100380563 single base substitution C T synonymous_variant G533G 1599C>T STAD-US 14 100380563 100380563 single base substitution C T upstream_gene_variant STAD-US 14 100381009 100381009 single base substitution G A downstream_gene_variant STAD-US 14 100381009 100381009 single base substitution G A exon_variant STAD-US 14 100381009 100381009 single base substitution G A missense_variant R564H 1691G>A STAD-US 14 100381009 100381009 single base substitution G A missense_variant R576H 1727G>A STAD-US 14 100381009 100381009 single base substitution G A missense_variant R595H 1784G>A STAD-US 14 100402660 100402660 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 14 100402660 100402660 deletion of <=200bp A - exon_variant STAD-US 14 100402660 100402660 deletion of <=200bp A - frameshift_variant E683 STAD-US 14 100402660 100402660 deletion of <=200bp A - frameshift_variant E695 STAD-US 14 100402660 100402660 deletion of <=200bp A - frameshift_variant E714 STAD-US 14 100405583 100405583 single base substitution G T downstream_gene_variant STAD-US 14 100405583 100405583 single base substitution G T exon_variant STAD-US 14 100405583 100405583 single base substitution G T synonymous_variant R735R 2205G>T STAD-US 14 100405583 100405583 single base substitution G T synonymous_variant R747R 2241G>T STAD-US 14 100405583 100405583 single base substitution G T synonymous_variant R766R 2298G>T STAD-US 14 100406391 100406391 single base substitution G A downstream_gene_variant STAD-US 14 100406391 100406391 single base substitution G A exon_variant STAD-US 14 100406391 100406391 single base substitution G A missense_variant S785N 2354G>A STAD-US 14 100406391 100406391 single base substitution G A missense_variant S797N 2390G>A STAD-US 14 100406391 100406391 single base substitution G A missense_variant S816N 2447G>A STAD-US 14 100406438 100406438 single base substitution C T downstream_gene_variant STAD-US 14 100406438 100406438 single base substitution C T exon_variant STAD-US 14 100406438 100406438 single base substitution C T missense_variant R801C 2401C>T STAD-US 14 100406438 100406438 single base substitution C T missense_variant R813C 2437C>T STAD-US 14 100406438 100406438 single base substitution C T missense_variant R832C 2494C>T THCA-SA 14 100375707 100375707 single base substitution C T 3_prime_UTR_variant THCA-SA 14 100375707 100375707 single base substitution C T exon_variant THCA-SA 14 100375707 100375707 single base substitution C T missense_variant A364V 1091C>T THCA-SA 14 100375707 100375707 single base substitution C T missense_variant A365V 1094C>T THCA-SA 14 100375707 100375707 single base substitution C T missense_variant A377V 1130C>T THCA-SA 14 100375707 100375707 single base substitution C T missense_variant A396V 1187C>T THCA-SA 14 100375707 100375707 single base substitution C T missense_variant A69V 206C>T THCA-SA 14 100407381 100407381 single base substitution T C 3_prime_UTR_variant THCA-SA 14 100407381 100407381 single base substitution T C downstream_gene_variant UCEC-US 14 100361038 100361038 single base substitution C A exon_variant UCEC-US 14 100361038 100361038 single base substitution C A missense_variant S176Y 527C>A UCEC-US 14 100361038 100361038 single base substitution C A missense_variant S194Y 581C>A UCEC-US 14 100361038 100361038 single base substitution C A missense_variant S195Y 584C>A UCEC-US 14 100361038 100361038 single base substitution C A missense_variant S207Y 620C>A UCEC-US 14 100361038 100361038 single base substitution C A missense_variant S226Y 677C>A UCEC-US 14 100361038 100361038 single base substitution C A upstream_gene_variant UCEC-US 14 100363557 100363557 single base substitution A G exon_variant UCEC-US 14 100363557 100363557 single base substitution A G synonymous_variant A220A 660A>G UCEC-US 14 100363557 100363557 single base substitution A G synonymous_variant A238A 714A>G UCEC-US 14 100363557 100363557 single base substitution A G synonymous_variant A239A 717A>G UCEC-US 14 100363557 100363557 single base substitution A G synonymous_variant A251A 753A>G UCEC-US 14 100363557 100363557 single base substitution A G synonymous_variant A270A 810A>G UCEC-US 14 100363557 100363557 single base substitution A G upstream_gene_variant UCEC-US 14 100364580 100364580 single base substitution C A exon_variant UCEC-US 14 100364580 100364580 single base substitution C A missense_variant H249N 745C>A UCEC-US 14 100364580 100364580 single base substitution C A missense_variant H267N 799C>A UCEC-US 14 100364580 100364580 single base substitution C A missense_variant H268N 802C>A UCEC-US 14 100364580 100364580 single base substitution C A missense_variant H280N 838C>A UCEC-US 14 100364580 100364580 single base substitution C A missense_variant H299N 895C>A UCEC-US 14 100364580 100364580 single base substitution C A missense_variant H4N 10C>A UCEC-US 14 100364580 100364580 single base substitution C A upstream_gene_variant UCEC-US 14 100367271 100367271 single base substitution G A exon_variant UCEC-US 14 100367271 100367271 single base substitution G A synonymous_variant L25L 75G>A UCEC-US 14 100367271 100367271 single base substitution G A synonymous_variant L270L 810G>A UCEC-US 14 100367271 100367271 single base substitution G A synonymous_variant L288L 864G>A UCEC-US 14 100367271 100367271 single base substitution G A synonymous_variant L289L 867G>A UCEC-US 14 100367271 100367271 single base substitution G A synonymous_variant L301L 903G>A UCEC-US 14 100367271 100367271 single base substitution G A synonymous_variant L320L 960G>A UCEC-US 14 100367320 100367320 single base substitution G A downstream_gene_variant UCEC-US 14 100367320 100367320 single base substitution G A exon_variant UCEC-US 14 100367320 100367320 single base substitution G A missense_variant V305I 913G>A UCEC-US 14 100367320 100367320 single base substitution G A missense_variant V306I 916G>A UCEC-US 14 100367320 100367320 single base substitution G A missense_variant V318I 952G>A UCEC-US 14 100367320 100367320 single base substitution G A missense_variant V337I 1009G>A UCEC-US 14 100367320 100367320 single base substitution G A missense_variant V42I 124G>A UCEC-US 14 100373991 100373991 single base substitution T G exon_variant UCEC-US 14 100373991 100373991 single base substitution T G intron_variant UCEC-US 14 100373991 100373991 single base substitution T G missense_variant L329R 986T>G UCEC-US 14 100373991 100373991 single base substitution T G missense_variant L330R 989T>G UCEC-US 14 100373991 100373991 single base substitution T G missense_variant L342R 1025T>G UCEC-US 14 100373991 100373991 single base substitution T G missense_variant L361R 1082T>G UCEC-US 14 100375726 100375726 single base substitution C T 3_prime_UTR_variant UCEC-US 14 100375726 100375726 single base substitution C T exon_variant UCEC-US 14 100375726 100375726 single base substitution C T synonymous_variant D370D 1110C>T UCEC-US 14 100375726 100375726 single base substitution C T synonymous_variant D371D 1113C>T UCEC-US 14 100375726 100375726 single base substitution C T synonymous_variant D383D 1149C>T UCEC-US 14 100375726 100375726 single base substitution C T synonymous_variant D402D 1206C>T UCEC-US 14 100375726 100375726 single base substitution C T synonymous_variant D75D 225C>T UCEC-US 14 100376630 100376630 single base substitution G A 3_prime_UTR_variant UCEC-US 14 100376630 100376630 single base substitution G A downstream_gene_variant UCEC-US 14 100376630 100376630 single base substitution G A exon_variant UCEC-US 14 100376630 100376630 single base substitution G A missense_variant D123N 367G>A UCEC-US 14 100376630 100376630 single base substitution G A missense_variant D419N 1255G>A UCEC-US 14 100376630 100376630 single base substitution G A missense_variant D431N 1291G>A UCEC-US 14 100376630 100376630 single base substitution G A missense_variant D450N 1348G>A UCEC-US 14 100376630 100376630 single base substitution G A upstream_gene_variant UCEC-US 14 100377834 100377834 single base substitution G A downstream_gene_variant UCEC-US 14 100377834 100377834 single base substitution G A exon_variant UCEC-US 14 100377834 100377834 single base substitution G A missense_variant G164D 491G>A UCEC-US 14 100377834 100377834 single base substitution G A missense_variant G460D 1379G>A UCEC-US 14 100377834 100377834 single base substitution G A missense_variant G472D 1415G>A UCEC-US 14 100377834 100377834 single base substitution G A missense_variant G491D 1472G>A UCEC-US 14 100377834 100377834 single base substitution G A upstream_gene_variant UCEC-US 14 100402649 100402649 single base substitution C T 3_prime_UTR_variant UCEC-US 14 100402649 100402649 single base substitution C T exon_variant UCEC-US 14 100402649 100402649 single base substitution C T synonymous_variant S679S 2037C>T UCEC-US 14 100402649 100402649 single base substitution C T synonymous_variant S691S 2073C>T UCEC-US 14 100402649 100402649 single base substitution C T synonymous_variant S710S 2130C>T UCEC-US 14 100404179 100404179 single base substitution C T 3_prime_UTR_variant UCEC-US 14 100404179 100404179 single base substitution C T exon_variant UCEC-US 14 100404179 100404179 single base substitution C T synonymous_variant V695V 2085C>T UCEC-US 14 100404179 100404179 single base substitution C T synonymous_variant V707V 2121C>T UCEC-US 14 100404179 100404179 single base substitution C T synonymous_variant V726V 2178C>T UCEC-US 14 100405538 100405538 single base substitution G A 3_prime_UTR_variant UCEC-US 14 100405538 100405538 single base substitution G A exon_variant UCEC-US 14 100405538 100405538 single base substitution G A synonymous_variant V720V 2160G>A UCEC-US 14 100405538 100405538 single base substitution G A synonymous_variant V732V 2196G>A UCEC-US 14 100405538 100405538 single base substitution G A synonymous_variant V751V 2253G>A UCEC-US 14 100405552 100405552 single base substitution C T 3_prime_UTR_variant UCEC-US 14 100405552 100405552 single base substitution C T exon_variant UCEC-US 14 100405552 100405552 single base substitution C T missense_variant S725L 2174C>T UCEC-US 14 100405552 100405552 single base substitution C T missense_variant S737L 2210C>T UCEC-US 14 100405552 100405552 single base substitution C T missense_variant S756L 2267C>T UCEC-US 14 100405613 100405613 single base substitution C T downstream_gene_variant UCEC-US 14 100405613 100405613 single base substitution C T exon_variant UCEC-US 14 100405613 100405613 single base substitution C T synonymous_variant G745G 2235C>T UCEC-US 14 100405613 100405613 single base substitution C T synonymous_variant G757G 2271C>T UCEC-US 14 100405613 100405613 single base substitution C T synonymous_variant G776G 2328C>T UCEC-US 14 100405617 100405617 single base substitution G A downstream_gene_variant UCEC-US 14 100405617 100405617 single base substitution G A exon_variant UCEC-US 14 100405617 100405617 single base substitution G A missense_variant D747N 2239G>A UCEC-US 14 100405617 100405617 single base substitution G A missense_variant D759N 2275G>A UCEC-US 14 100405617 100405617 single base substitution G A missense_variant D778N 2332G>A UCEC-US 14 100405650 100405650 single base substitution T A downstream_gene_variant UCEC-US 14 100405650 100405650 single base substitution T A exon_variant UCEC-US 14 100405650 100405650 single base substitution T A missense_variant C758S 2272T>A UCEC-US 14 100405650 100405650 single base substitution T A missense_variant C770S 2308T>A UCEC-US 14 100405650 100405650 single base substitution T A missense_variant C789S 2365T>A UCEC-US 14 100406344 100406344 single base substitution C T downstream_gene_variant UCEC-US 14 100406344 100406344 single base substitution C T exon_variant UCEC-US 14 100406344 100406344 single base substitution C T synonymous_variant G769G 2307C>T UCEC-US 14 100406344 100406344 single base substitution C T synonymous_variant G781G 2343C>T UCEC-US 14 100406344 100406344 single base substitution C T synonymous_variant G800G 2400C>T UCEC-US 14 100406398 100406398 single base substitution C A downstream_gene_variant UCEC-US 14 100406398 100406398 single base substitution C A exon_variant UCEC-US 14 100406398 100406398 single base substitution C A synonymous_variant L787L 2361C>A UCEC-US 14 100406398 100406398 single base substitution C A synonymous_variant L799L 2397C>A UCEC-US 14 100406398 100406398 single base substitution C A synonymous_variant L818L 2454C>A UCEC-US 14 100406438 100406438 single base substitution C T downstream_gene_variant UCEC-US 14 100406438 100406438 single base substitution C T exon_variant UCEC-US 14 100406438 100406438 single base substitution C T missense_variant R801C 2401C>T UCEC-US 14 100406438 100406438 single base substitution C T missense_variant R813C 2437C>T UCEC-US 14 100406438 100406438 single base substitution C T missense_variant R832C 2494C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-A010-01 COSM280784 c.2166C>A p.A722A Substitution - coding silent 14:99937830-99937830 + TCGA-AP-A059-01 COSM949265 c.960G>A p.L320L Substitution - coding silent 14:99900934-99900934 + TCGA-39-5031-01 COSM697110 c.2355C>G p.F785L Substitution - Missense 14:99939303-99939303 + 5 COSM3734922 c.86C>T p.A29V Substitution - Missense 14:99850871-99850871 + CN-AML-08-T COSM1371950 c.1187C>T p.A396V Substitution - Missense 14:99909370-99909370 + Pa08C COSM84267 c.2332G>A p.D778N Substitution - Missense 14:99939280-99939280 + YULONE COSM5381838 c.2329G>A p.D777N Substitution - Missense 14:99939277-99939277 + 4_RESISTANT COSM1724519 c.2400_2401insGG p.H802fs*>34 Insertion - Frameshift 14:99940007-99940008 + TCGA-BS-A0UV-01 COSM949267 c.1082T>G p.L361R Substitution - Missense 14:99907654-99907654 + TCGA-02-0003 COSM2148885 c.859G>A p.A287T Substitution - Missense 14:99897269-99897269 + TCGA-B5-A11E-01 COSM949277 c.2400C>T p.G800G Substitution - coding silent 14:99940007-99940007 + TCGA-GN-A26C-01 COSM3493752 c.2145C>T p.I715I Substitution - coding silent 14:99936327-99936327 + STC263 COSM5053790 c.887T>C p.L296P Substitution - Missense 14:99898235-99898235 + Pat_08_B COSM5847554 c.1023delT p.F343fs*41 Deletion - Frameshift 14:99900997-99900997 + TCGA-ER-A19E-06 COSM2261708 c.1101C>T p.S367S Substitution - coding silent 14:99907673-99907673 + HCC127T COSM5822935 c.2318T>A p.L773Q Substitution - Missense 14:99939266-99939266 + 12T COSM106780 c.1024T>G p.F342V Substitution - Missense 14:99900998-99900998 + YUQUEST COSM5381835 c.1078A>G p.N360D Substitution - Missense 14:99907650-99907650 + TCGA-CG-4462-01 COSM4049048 c.1548G>T p.T516T Substitution - coding silent 14:99911573-99911573 + TCGA-D1-A17Q-01 COSM949279 c.2454C>A p.L818L Substitution - coding silent 14:99940061-99940061 + TCGA-AM-5820-01 COSM1371950 c.1187C>T p.A396V Substitution - Missense 14:99909370-99909370 + TCGA-A6-5665-01 COSM1371956 c.2233G>C p.G745R Substitution - Missense 14:99937897-99937897 + S02248 COSM5679464 c.771G>T p.L257L Substitution - coding silent 14:99897181-99897181 + TCGA-AP-A051-01 COSM949270 c.1472G>A p.G491D Substitution - Missense 14:99911497-99911497 + TCGA-AG-A002-01 COSM260679 c.1294G>A p.E432K Substitution - Missense 14:99909477-99909477 + 587376 COSM1205253 c.1248T>G p.F416L Substitution - Missense 14:99909431-99909431 + pfg416T COSM4759361 c.1862G>A p.G621E Substitution - Missense 14:99917834-99917834 + Pat_74_B COSM1371947 c.526C>T p.R176C Substitution - Missense 14:99878570-99878570 + TCGA-A6-5661-01 COSM1371959 c.2491_2492insG p.R832fs*>4 Insertion - Frameshift 14:99940098-99940099 + TCGA-B0-5812-01 COSM212533 c.1245C>A p.Y415* Substitution - Nonsense 14:99909428-99909428 + TCGA-AA-3663-01 COSM1371945 c.299G>A p.G100D Substitution - Missense 14:99865562-99865562 + CPCG_0042_Pr_P_F0 COSM3396186 c.944A>G p.K315R Substitution - Missense 14:99898292-99898292 + Hx218 COSM50965 c.1521C>T p.S507S Substitution - coding silent 14:99911546-99911546 + C135 COSM4617497 c.2411G>A p.S804N Substitution - Missense 14:99940018-99940018 + PD11386a COSM4049045 c.1402A>G p.N468D Substitution - Missense 14:99911427-99911427 + YURUS COSM1707878 c.1405C>T p.R469* Substitution - Nonsense 14:99911430-99911430 + TCGA-39-5016-01 COSM697113 c.466G>A p.E156K Substitution - Missense 14:99878510-99878510 + YUFIT COSM3885615 c.1699G>A p.G567R Substitution - Missense 14:99914587-99914587 + CSCC-27-T COSM4525561 c.1339G>A p.E447K Substitution - Missense 14:99910284-99910284 + QC2-32-T2 COSM1371950 c.1187C>T p.A396V Substitution - Missense 14:99909370-99909370 + TCGA-AG-A02X-01 COSM265441 c.2297G>A p.R766Q Substitution - Missense 14:99939245-99939245 + TCGA-EE-A29D-06 COSM3493751 c.1946C>T p.S649F Substitution - Missense 14:99920857-99920857 + TCGA-02-0003-01 COSM2148885 c.859G>A p.A287T Substitution - Missense 14:99897269-99897269 + TCGA-BR-4362-01 COSM1371955 c.1587C>T p.A529A Substitution - coding silent 14:99914214-99914214 + TCGA-FS-A1ZZ-06 COSM3493747 c.895C>T p.H299Y Substitution - Missense 14:99898243-99898243 + TCGA-JW-A5VL-01 COSM4847888 c.2123C>G p.S708* Substitution - Nonsense 14:99936305-99936305 + TCGA-CA-6717-01 COSM1371947 c.526C>T p.R176C Substitution - Missense 14:99878570-99878570 + TCGA-EE-A2GO-06 COSM3493746 c.871G>A p.D291N Substitution - Missense 14:99897281-99897281 + TCGA-B0-5083-01 COSM1493147 c.1643G>A p.G548D Substitution - Missense 14:99914270-99914270 + BCM339T COSM4802528 c.2160C>T p.P720P Substitution - coding silent 14:99937824-99937824 + BD87T COSM3999148 c.1723T>C p.S575P Substitution - Missense 14:99914611-99914611 + sysucc-274T COSM5475751 c.446T>C p.I149T Substitution - Missense 14:99878490-99878490 + 2521259 COSM5882460 c.1787C>T p.P596L Substitution - Missense 14:99914675-99914675 + 2492723 COSM5724182 c.1502G>A p.R501Q Substitution - Missense 14:99911527-99911527 + TCGA-BR-6452-01 COSM4049040 c.782C>T p.P261L Substitution - Missense 14:99897192-99897192 + TCGA-B5-A11E-01 COSM949269 c.1348G>A p.D450N Substitution - Missense 14:99910293-99910293 + TCGA-F1-A448-01 COSM4049044 c.1203G>T p.T401T Substitution - coding silent 14:99909386-99909386 + T3024 COSM4680877 c.83C>T p.A28V Substitution - Missense 14:99850868-99850868 + TCGA-AP-A054-01 COSM949276 c.2365T>A p.C789S Substitution - Missense 14:99939313-99939313 + Mx27 COSM50404 c.941C>T p.S314L Substitution - Missense 14:99898289-99898289 + RKO COSM2261710 c.1218A>G p.I406M Substitution - Missense 14:99909401-99909401 + CHC892T COSM4795664 c.1125G>A p.W375* Substitution - Nonsense 14:99907697-99907697 + LUAD-E00918 COSM365048 c.491G>T p.R164M Substitution - Missense 14:99878535-99878535 + TCGA-D7-5578-01 COSM4049050 c.1784G>A p.R595H Substitution - Missense 14:99914672-99914672 + CSCC-47-T COSM4499727 c.548C>T p.S183F Substitution - Missense 14:99878592-99878592 + TCGA-AR-A24H-01 COSM3814229 c.1872T>C p.T624T Substitution - coding silent 14:99917844-99917844 + YUFIT COSM5381837 c.1698G>A p.W566* Substitution - Nonsense 14:99914586-99914586 + TCGA-EE-A3AE-06 COSM3493749 c.1540C>T p.R514C Substitution - Missense 14:99911565-99911565 + LUAD_E00565 COSM389147 c.1984A>T p.I662L Substitution - Missense 14:99936046-99936046 + C086 COSM5530448 c.2096G>A p.W699* Substitution - Nonsense 14:99936278-99936278 + PD13753a COSM5793937 c.605-10C>G p.? Unknown 14:99894619-99894619 + TCGA-FP-A4BE-01 COSM4049041 c.936C>T p.G312G Substitution - coding silent 14:99898284-99898284 + sysucc-311T COSM5478626 c.106G>A p.D36N Substitution - Missense 14:99850891-99850891 + TCGA-AM-5820-01 COSM3753775 c.150C>T p.D50D Substitution - coding silent 14:99850935-99850935 + TCGA-AR-A24H-01 COSM3814230 c.1873G>T p.G625W Substitution - Missense 14:99917845-99917845 + TCGA-B5-A0JY-01 COSM949271 c.2130C>T p.S710S Substitution - coding silent 14:99936312-99936312 + CSCC-44-T COSM4555946 c.673G>A p.D225N Substitution - Missense 14:99894697-99894697 + LUAD-S00484 COSM342822 c.965C>A p.P322Q Substitution - Missense 14:99900939-99900939 + 92 COSM5012823 c.383+1G>C p.? Unknown 14:99865647-99865647 + AA1934 COSM4168820 c.2495G>A p.R832H Substitution - Missense 14:99940102-99940102 + TCGA-D1-A17Q-01 COSM949262 c.677C>A p.S226Y Substitution - Missense 14:99894701-99894701 + RMS66_ COSM4987938 c.2444A>C p.D815A Substitution - Missense 14:99940051-99940051 + CSCC-27-T COSM4516629 c.2115_2116CC>TT p.L706F Substitution - Missense 14:99936297-99936298 + TCGA-DM-A28K-01 COSM1371954 c.1577G>A p.R526Q Substitution - Missense 14:99914204-99914204 + sysucc-657T COSM5459900 c.1522G>A p.G508R Substitution - Missense 14:99911547-99911547 + CSCC-31-T COSM4543986 c.347G>A p.G116E Substitution - Missense 14:99865610-99865610 + TCGA-EE-A3AC-06 COSM3493745 c.804C>T p.F268F Substitution - coding silent 14:99897214-99897214 + CPCG0042-F1 COSM3396186 c.944A>G p.K315R Substitution - Missense 14:99898292-99898292 + SNUH_G72_S1 COSM4420280 c.219G>A p.Q73Q Substitution - coding silent 14:99851004-99851004 + TCGA-BW-A5NO-01 COSM4933141 c.731G>T p.W244L Substitution - Missense 14:99894755-99894755 + PD9605a COSM5794009 c.1994A>G p.H665R Substitution - Missense 14:99936056-99936056 + TCGA-AP-A059-01 COSM949273 c.2253G>A p.V751V Substitution - coding silent 14:99939201-99939201 + TCGA-CG-5721-01 COSM4049047 c.1526A>G p.N509S Substitution - Missense 14:99911551-99911551 + TCGA-CH-5744-01 COSM1128337 c.2290G>A p.V764I Substitution - Missense 14:99939238-99939238 + BCM723T COSM1128337 c.2290G>A p.V764I Substitution - Missense 14:99939238-99939238 + SNUH_G26_S1 COSM3999147 c.276T>C p.P92P Substitution - coding silent 14:99865539-99865539 + TCGA-EE-A3J3-06 COSM3885611 c.151G>A p.D51N Substitution - Missense 14:99850936-99850936 + TCGA-66-2767-01 COSM697114 c.348G>T p.G116G Substitution - coding silent 14:99865611-99865611 + DLD1 COSM4622887 c.1677G>T p.Q559H Substitution - Missense 14:99914304-99914304 + tumor_4128477 COSM5947257 c.1501C>T p.R501* Substitution - Nonsense 14:99911526-99911526 + T3116 COSM4680879 c.1548G>A p.T516T Substitution - coding silent 14:99911573-99911573 + PCSI_0078_Pa_X COSM3377329 c.1861G>A p.G621R Substitution - Missense 14:99917833-99917833 + BD180T COSM5495157 c.428G>C p.R143T Substitution - Missense 14:99874975-99874975 + 61 COSM4403483 c.2407A>G p.S803G Substitution - Missense 14:99940014-99940014 + TCGA-29-2434-01 COSM1323301 c.1981G>A p.A661T Substitution - Missense 14:99936043-99936043 + C086 COSM5530449 c.2037G>A p.R679R Substitution - coding silent 14:99936099-99936099 + SA224 COSM212533 c.1245C>A p.Y415* Substitution - Nonsense 14:99909428-99909428 + HCC12 COSM1607319 c.1425G>A p.Q475Q Substitution - coding silent 14:99911450-99911450 + TCGA-BR-6452-01 COSM199359 c.2494C>T p.R832C Substitution - Missense 14:99940101-99940101 + PCSI_0468_Pa_P_526 COSM4809350 c.488G>A p.R163Q Substitution - Missense 14:99878532-99878532 + YURAY COSM5381836 c.1549G>A p.E517K Substitution - Missense 14:99911574-99911574 + TCGA-FW-A3R5-06 COSM3885613 c.1380C>T p.I460I Substitution - coding silent 14:99910325-99910325 + C0057T COSM4150714 c.1967-1G>A p.? Unknown 14:99936028-99936028 + TCGA-EI-6917-01 COSM3419618 c.190C>T p.R64W Substitution - Missense 14:99850975-99850975 + TCGA-A2-A25A-01 COSM1477362 c.928G>T p.V310F Substitution - Missense 14:99898276-99898276 + TCGA-BR-8382-01 COSM4049046 c.1429G>A p.A477T Substitution - Missense 14:99911454-99911454 + TCGA-D3-A1QA-06 COSM3814232 c.2427C>T p.V809V Substitution - coding silent 14:99940034-99940034 + PT08_2 COSM5893763 c.1426G>A p.G476R Substitution - Missense 14:99911451-99911451 + TCGA-EE-A2GD-06 COSM3493744 c.487C>T p.R163* Substitution - Nonsense 14:99878531-99878531 + PT21_2 COSM5901861 c.1829G>A p.G610D Substitution - Missense 14:99917801-99917801 + TCGA-25-1635-01 COSM82122 c.432G>A p.S144S Substitution - coding silent 14:99874979-99874979 + YUDUTY COSM1707875 c.338C>T p.S113F Substitution - Missense 14:99865601-99865601 + TCGA-AX-A05Z-01 COSM949272 c.2178C>T p.V726V Substitution - coding silent 14:99937842-99937842 + TCGA-F5-6814-01 COSM3419619 c.912G>A p.T304T Substitution - coding silent 14:99898260-99898260 + PT46 COSM4412359 c.1931G>A p.G644E Substitution - Missense 14:99920842-99920842 + TCGA-EI-6917-01 COSM3419620 c.1114C>A p.L372I Substitution - Missense 14:99907686-99907686 + TCGA-F4-6570-01 COSM1371950 c.1187C>T p.A396V Substitution - Missense 14:99909370-99909370 + TCGA-CG-5726-01 COSM4049049 c.1599C>T p.G533G Substitution - coding silent 14:99914226-99914226 + TCGA-AA-3492-01 COSM1371958 c.2401G>A p.G801R Substitution - Missense 14:99940008-99940008 + LP6005334-DNA_A04 COSM4412359 c.1931G>A p.G644E Substitution - Missense 14:99920842-99920842 + TCGA-D8-A1JA-01 COSM3814231 c.2334C>G p.D778E Substitution - Missense 14:99939282-99939282 + TCGA-AP-A051-01 COSM949275 c.2328C>T p.G776G Substitution - coding silent 14:99939276-99939276 + TCGA-BR-8487-01 COSM4049045 c.1402A>G p.N468D Substitution - Missense 14:99911427-99911427 + TCGA-B5-A0JY-01 COSM949264 c.895C>A p.H299N Substitution - Missense 14:99898243-99898243 + CHC892T COSM4795664 c.1125G>A p.W375* Substitution - Nonsense 14:99907697-99907697 + FM403T COSM673829 c.1936G>C p.E646Q Substitution - Missense 14:99920847-99920847 + ESO-169 COSM1251162 c.2289C>T p.A763A Substitution - coding silent 14:99939237-99939237 + S02350 COSM5694639 c.2378G>T p.R793M Substitution - Missense 14:99939326-99939326 + HN_62601 COSM127882 c.1188G>A p.A396A Substitution - coding silent 14:99909371-99909371 + YUKSI COSM949271 c.2130C>T p.S710S Substitution - coding silent 14:99936312-99936312 + C658 COSM4443262 c.2255G>T p.W752L Substitution - Missense 14:99939203-99939203 + TCGA-D9-A6EC-06 COSM4403534 c.2243T>G p.V748G Substitution - Missense 14:99937907-99937907 + PT48 COSM5933277 c.950G>A p.G317E Substitution - Missense 14:99898298-99898298 + TCGA-BG-A0MG-01 COSM84267 c.2332G>A p.D778N Substitution - Missense 14:99939280-99939280 + TCGA-DK-A3WW-01 COSM697110 c.2355C>G p.F785L Substitution - Missense 14:99939303-99939303 + TCGA-D9-A1JW-06 COSM3493748 c.1107C>T p.D369D Substitution - coding silent 14:99907679-99907679 + SNUH_G45_S1 COSM3999148 c.1723T>C p.S575P Substitution - Missense 14:99914611-99914611 + TCGA-BR-6452-01 COSM4049039 c.124G>T p.E42* Substitution - Nonsense 14:99850909-99850909 + 2492720 COSM5724182 c.1502G>A p.R501Q Substitution - Missense 14:99911527-99911527 + TCGA-AZ-6601-01 COSM1371948 c.813C>T p.S271S Substitution - coding silent 14:99897223-99897223 + LAU63 COSM233943 c.1162-7C>T p.? Unknown 14:99909338-99909338 + SCC-25 COSM2261719 c.1598G>A p.G533D Substitution - Missense 14:99914225-99914225 + TCGA-BT-A20N-01 COSM416291 c.1162-1G>C p.? Unknown 14:99909344-99909344 + TCGA-27-2519-01 COSM3401113 c.761G>A p.R254H Substitution - Missense 14:99897171-99897171 + PTC-7C COSM1371950 c.1187C>T p.A396V Substitution - Missense 14:99909370-99909370 + RKO COSM4647740 c.370C>T p.P124S Substitution - Missense 14:99865633-99865633 + TCGA-HU-A4GQ-01 COSM4049052 c.2447G>A p.S816N Substitution - Missense 14:99940054-99940054 + TCGA-B5-A11Y-01 COSM199359 c.2494C>T p.R832C Substitution - Missense 14:99940101-99940101 + 1953_T COSM3955800 c.320C>G p.P107R Substitution - Missense 14:99865583-99865583 + HCC160T COSM5819267 c.1923C>T p.H641H Substitution - coding silent 14:99920834-99920834 + PCSI_0038_Pa_X COSM3377334 c.1161+9C>T p.? Unknown 14:99907742-99907742 + TCGA-BR-7703-01 COSM199348 c.796G>A p.V266I Substitution - Missense 14:99897206-99897206 + PA285 COSM1163075 c.1168A>G p.N390D Substitution - Missense 14:99909351-99909351 + TCGA-DK-A3WW-01 COSM3793462 c.2249-1G>T p.? Unknown 14:99939196-99939196 + CRC-13T COSM5479307 c.1128C>T p.D376D Substitution - coding silent 14:99907700-99907700 + BCM339T COSM4802528 c.2160C>T p.P720P Substitution - coding silent 14:99937824-99937824 + TCGA-BG-A18A-01 COSM949266 c.1009G>A p.V337I Substitution - Missense 14:99900983-99900983 + TCGA-AP-A05N-01 COSM949268 c.1206C>T p.D402D Substitution - coding silent 14:99909389-99909389 + YUKLAB COSM949270 c.1472G>A p.G491D Substitution - Missense 14:99911497-99911497 + TCGA-JW-A5VL-01 COSM4847072 c.2118C>T p.L706L Substitution - coding silent 14:99936300-99936300 + 8067249 COSM2261728 c.2140G>A p.E714K Substitution - Missense 14:99936322-99936322 + 2492722 COSM5724182 c.1502G>A p.R501Q Substitution - Missense 14:99911527-99911527 + TCGA-GV-A3QI-01 COSM1300379 c.1996G>A p.D666N Substitution - Missense 14:99936058-99936058 + TCGA-D1-A16I-01 COSM949278 c.2411G>T p.S804I Substitution - Missense 14:99940018-99940018 + Pat_66_A COSM1707875 c.338C>T p.S113F Substitution - Missense 14:99865601-99865601 + T204 COSM4680880 c.1955G>A p.R652Q Substitution - Missense 14:99920866-99920866 + SW837 COSM2261702 c.866_868delACA p.N290delN Deletion - In frame 14:99897276-99897278 + C0088T COSM4150713 c.1200C>G p.P400P Substitution - coding silent 14:99909383-99909383 + PT53 COSM1371950 c.1187C>T p.A396V Substitution - Missense 14:99909370-99909370 + P6 COSM1315761 c.962C>A p.P321H Substitution - Missense 14:99900936-99900936 + TCGA-FW-A3R5-06 COSM3885615 c.1699G>A p.G567R Substitution - Missense 14:99914587-99914587 + YUKSI COSM2261728 c.2140G>A p.E714K Substitution - Missense 14:99936322-99936322 + PT08_1 COSM5893763 c.1426G>A p.G476R Substitution - Missense 14:99911451-99911451 + UM-SCC-17B COSM4599131 c.227T>A p.L76H Substitution - Missense 14:99851012-99851012 + TCGA-56-1622-01 COSM697112 c.1228G>T p.G410* Substitution - Nonsense 14:99909411-99909411 + TCGA-FW-A3R5-06 COSM3885614 c.1667C>T p.P556L Substitution - Missense 14:99914294-99914294 + YULAD COSM2261728 c.2140G>A p.E714K Substitution - Missense 14:99936322-99936322 + TCGA-HC-7077-01 COSM3671859 c.912G>T p.T304T Substitution - coding silent 14:99898260-99898260 + PD6730b COSM5791702 c.530C>G p.T177R Substitution - Missense 14:99878574-99878574 + ZZUFHECRKL-G057T COSM5445511 c.313A>G p.K105E Substitution - Missense 14:99865576-99865576 + T368 COSM4680878 c.1471G>A p.G491S Substitution - Missense 14:99911496-99911496 + TCGA-FW-A3R5-06 COSM3885612 c.431C>T p.S144L Substitution - Missense 14:99874978-99874978 + ESO-114 COSM1251161 c.129G>A p.Q43Q Substitution - coding silent 14:99850914-99850914 + MDS-19 COSM210964 c.608A>G p.E203G Substitution - Missense 14:99894632-99894632 + HDC82 COSM4636607 c.2331C>T p.D777D Substitution - coding silent 14:99939279-99939279 + C086 COSM5530446 c.1912G>A p.V638I Substitution - Missense 14:99920823-99920823 + TCGA-AP-A0LM-01 COSM949274 c.2267C>T p.S756L Substitution - Missense 14:99939215-99939215 + BCM723T COSM1128337 c.2290G>A p.V764I Substitution - Missense 14:99939238-99939238 + TCGA-CG-4306-01 COSM4049051 c.2298G>T p.R766R Substitution - coding silent 14:99939246-99939246 + STC246 COSM5053791 c.1368A>G p.S456S Substitution - coding silent 14:99910313-99910313 + TCGA-BH-A0HF-01 COSM3814228 c.1303G>A p.E435K Substitution - Missense 14:99910248-99910248 + TCGA-HU-A4GH-01 COSM4049043 c.1140A>C p.E380D Substitution - Missense 14:99907712-99907712 + HCT116 COSM2261715 c.1282C>G p.Q428E Substitution - Missense 14:99909465-99909465 + ESCC-100T COSM3936402 c.1844G>T p.G615V Substitution - Missense 14:99917816-99917816 + TCGA-ER-A19N-06 COSM3493753 c.2357C>T p.S786L Substitution - Missense 14:99939305-99939305 + Pat_74_A COSM1371947 c.526C>T p.R176C Substitution - Missense 14:99878570-99878570 + TCGA-EB-A41A-01 COSM3493750 c.1837C>T p.P613S Substitution - Missense 14:99917809-99917809 + S0029 COSM5882460 c.1787C>T p.P596L Substitution - Missense 14:99914675-99914675 + C086 COSM5530447 c.358G>A p.E120K Substitution - Missense 14:99865621-99865621 + TCGA-B0-4712-01 COSM469656 c.566A>G p.N189S Substitution - Missense 14:99878610-99878610 + TCGA-AA-A010-01 COSM50404 c.941C>T p.S314L Substitution - Missense 14:99898289-99898289 + TCGA-CA-6717-01 COSM1371957 c.2278G>A p.D760N Substitution - Missense 14:99939226-99939226 + 2492721 COSM5724182 c.1502G>A p.R501Q Substitution - Missense 14:99911527-99911527 + LAU63 COSM232245 c.1153G>A p.D385N Substitution - Missense 14:99907725-99907725 + YUZINO COSM1707877 c.631C>T p.R211C Substitution - Missense 14:99894655-99894655 + HX11T COSM1607318 c.52C>A p.L18I Substitution - Missense 14:99793528-99793528 + PCSI_0078_Pa_P_526 COSM3377329 c.1861G>A p.G621R Substitution - Missense 14:99917833-99917833 + TCGA-AG-3902-01 COSM258777 c.673G>C p.D225H Substitution - Missense 14:99894697-99894697 + TCGA-D9-A6EC-06 COSM4403483 c.2407A>G p.S803G Substitution - Missense 14:99940014-99940014 + ESO-752 COSM1251163 c.217C>T p.Q73* Substitution - Nonsense 14:99851002-99851002 + TCGA-EE-A2MS-06 COSM1371947 c.526C>T p.R176C Substitution - Missense 14:99878570-99878570 + TCGA-B5-A11E-01 COSM949263 c.810A>G p.A270A Substitution - coding silent 14:99897220-99897220 + PT42 COSM233943 c.1162-7C>T p.? Unknown 14:99909338-99909338 + CSCC-27-T COSM4537299 c.2401G>T p.G801W Substitution - Missense 14:99940008-99940008 + TCGA-D8-A1JA-01 COSM3814232 c.2427C>T p.V809V Substitution - coding silent 14:99940034-99940034 + TCGA-CD-8527-01 COSM199348 c.796G>A p.V266I Substitution - Missense 14:99897206-99897206 + TCGA-GC-A3RC-01 COSM3793461 c.1765T>C p.W589R Substitution - Missense 14:99914653-99914653 + TCGA-BR-6452-01 COSM4049042 c.1015G>T p.G339* Substitution - Nonsense 14:99900989-99900989 + SNUH_G45_S1 COSM1371950 c.1187C>T p.A396V Substitution - Missense 14:99909370-99909370 + TCGA-CK-5916-01 COSM3689904 c.1653A>G p.S551S Substitution - coding silent 14:99914280-99914280 + HN_62984 COSM122831 c.129G>C p.Q43H Substitution - Missense 14:99850914-99850914 + BD114T COSM5504077 c.1858G>T p.V620F Substitution - Missense 14:99917830-99917830 + YURTHE COSM1707876 c.536C>T p.S179F Substitution - Missense 14:99878580-99878580 + TCGA-EE-A2GC-06 COSM3493743 c.291C>T p.V97V Substitution - coding silent 14:99865554-99865554 + TCGA-D8-A1JP-01 COSM1477361 c.820G>T p.V274L Substitution - Missense 14:99897230-99897230 + sysucc-311T COSM5478627 c.1936G>A p.E646K Substitution - Missense 14:99920847-99920847 + CN-AML-NR-08-Dx COSM1371950 c.1187C>T p.A396V Substitution - Missense 14:99909370-99909370 + 587284 COSM1205252 c.1094A>G p.D365G Substitution - Missense 14:99907666-99907666 + HCC12T COSM1607319 c.1425G>A p.Q475Q Substitution - coding silent 14:99911450-99911450 + PTC-88C COSM4147809 c.4G>T p.E2* Substitution - Nonsense 14:99793480-99793480 + SC_9072 COSM1707878 c.1405C>T p.R469* Substitution - Nonsense 14:99911430-99911430 + 587382 COSM1205254 c.904C>T p.R302W Substitution - Missense 14:99898252-99898252 + T3503 COSM4680881 c.2370G>A p.S790S Substitution - coding silent 14:99939318-99939318 + PD4116a COSM3664732 c.1518G>C p.W506C Substitution - Missense 14:99911543-99911543 + PD4116a COSM3664732 c.1518G>C p.W506C Substitution - Missense 14:99911543-99911543 + TCGA-AA-A00N-01 COSM274964 c.1769A>G p.D590G Substitution - Missense 14:99914657-99914657 + TCGA-EB-A431-01 COSM1371955 c.1587C>T p.A529A Substitution - coding silent 14:99914214-99914214 + TCGA-DB-A64Q-01 COSM3968669 c.1003C>G p.L335V Substitution - Missense 14:99900977-99900977 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.12451 14q32 602033 1514036|dbSNP|BC032541|A/T|non-coding||2856|Validated; 1514036|dbSNP|BC033043|A/T|non-coding||2880|Validated; 1514046|dbSNP|BC032541|C/T|non-coding||3424|Validated; 1514046|dbSNP|BC033043|C/T|non-coding||3448|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.2502+1398A>G 14 100407844 HC A G IntronicSNV . c.1967-3698A>G 14 100398668 CLL A G Missense p.Y717C c.2150A>G 14 100402669 LUAD A T Synonymous p.P322P c.966A>T 14 100367277 LUAD C A Nonsense p.Y415* c.1245C>A 14 100375765 BRCA C A Nonsense p.Y415* c.1245C>A 14 100375765 RCCC C A Synonymous p.T82T c.246C>A 14 100317368 STAD C G Missense p.F785L c.2355C>G 14 100405640 LUSC C T IntronicSNV . c.1162-6C>T 14 100375676 CM C T IntronicSNV . c.1162-7C>T 14 100375675 CM C T Missense p.A529V c.1586C>T 14 100380550 CM C T Missense p.H299Y c.895C>T 14 100364580 CM C T Missense p.L818F c.2452C>T 14 100406396 CM C T Missense p.P300S c.898C>T 14 100364583 CM C T Missense p.P596L c.1787C>T 14 100381012 CM C T Missense p.R176C c.526C>T 14 100344907 CM C T Missense p.R514C c.1540C>T 14 100377902 CM C T Missense p.R832C c.2494C>T 14 100406438 UCEC C T Missense p.S786L c.2357C>T 14 100405642 CM C T Nonsense p.Q73* c.217C>T 14 100317339 ESCA C T Nonsense p.R163* c.487C>T 14 100344868 CM C T Synonymous p.A763A c.2289C>T 14 100405574 ESCA C T Synonymous p.D369D c.1107C>T 14 100374016 CM C T Synonymous p.D402D c.1206C>T 14 100375726 UCEC C T Synonymous p.F268F c.804C>T 14 100363551 CM C T Synonymous p.G533G c.1599C>T 14 100380563 STAD C T Synonymous p.I715I c.2145C>T 14 100402664 CM C T Synonymous p.S367S c.1101C>T 14 100374010 CM C T Synonymous p.V809V c.2427C>T 14 100406371 CM C T Synonymous p.V97V c.291C>T 14 100331891 CM G A IntronicSNV . c.605-69G>A 14 100360897 CM G A Missense p.A287T c.859G>A 14 100363606 GBM G A Missense p.D291N c.871G>A 14 100363618 CM G A Missense p.D51N c.151G>A 14 100317273 CM G A Missense p.D666N c.1996G>A 14 100402395 BLCA G A Missense p.D778N c.2332G>A 14 100405617 PAAD G A Missense p.D778N c.2332G>A 14 100405617 UCEC G A Missense p.E156K c.466G>A 14 100344847 LUSC G A Missense p.G357R c.1069G>A 14 100373978 CM G A Missense p.G615E c.1844G>A 14 100384153 CM G A Missense p.G758E c.2273G>A 14 100405558 HNSC G A Missense p.R254H c.761G>A 14 100363508 GBM G A Missense p.R595H c.1784G>A 14 100381009 STAD G A Missense p.R766Q c.2297G>A 14 100405582 COREAD G A Missense p.V337I c.1009G>A 14 100367320 UCEC G A Missense p.V764I c.2290G>A 14 100405575 PRAD G A Synonymous p.A396A c.1188G>A 14 100375708 HNSC G A Synonymous p.Q43Q c.129G>A 14 100317251 ESCA G A Synonymous p.S144S c.432G>A 14 100341316 CM G A Synonymous p.S144S c.432G>A 14 100341316 OV G A Synonymous p.S495S c.1485G>A 14 100377847 CM G A Synonymous p.V274V c.822G>A 14 100363569 HNSC G C Missense p.D225H c.673G>C 14 100361034 COREAD G C Missense p.E769Q c.2305G>C 14 100405590 HNSC G C Missense p.Q43H c.129G>C 14 100317251 HNSC G C SpliceAcceptorSNV . c.1162-1G>C 14 100375681 BLCA G T Missense p.G161V c.482G>T 14 100344863 STAD G T Missense p.G247V c.740G>T 14 100363487 LUAD G T Missense p.V274L c.820G>T 14 100363567 BRCA G T Missense p.V310F c.928G>T 14 100364613 BRCA G T Nonsense p.G410* c.1228G>T 14 100375748 LUSC G T Synonymous p.G116G c.348G>T 14 100331948 LUSC G T Synonymous p.R766R c.2298G>T 14 100405583 STAD G T Synonymous p.T304T c.912G>T 14 100364597 PRAD G T Synonymous p.T516T c.1548G>T 14 100377910 STAD T A Missense p.C789S c.2365T>A 14 100405650 UCEC T A Missense p.Y670N c.2008T>A 14 100402407 LUAD T C IntronicSNV . c.1066-344T>C 14 100373631 MB T C Missense p.S314P c.940T>C 14 100364625 LUAD T C SpliceDonorSNV . c.1677+2T>C 14 100380643 LUAD T G Missense p.I662R c.1985T>G 14 100402384 CM T G Synonymous p.G449G c.1347T>G 14 100376629 HNSC