Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 78237494 78237494 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr17:78237494C>T c.14C>T c.(13-15)tCg>tTg p.S5L BLCA 17 78237509 78237509 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr17:78237509C>A c.29C>A c.(28-30)tCc>tAc p.S10Y BLCA 17 78262066 78262066 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr17:78262066C>T c.714C>T c.(712-714)gcC>gcT p.A238A BLCA 17 78262520 78262520 + Missense_Mutation SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr17:78262520C>T c.899C>T c.(898-900)cCa>cTa p.P300L BLCA 17 78263536 78263536 + Missense_Mutation SNP G G A TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr17:78263536G>A c.1012G>A c.(1012-1014)Gac>Aac p.D338N BLCA 17 78263541 78263541 + Silent SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:78263541C>G c.1017C>G c.(1015-1017)ctC>ctG p.L339L BLCA 17 78264488 78264488 + Missense_Mutation SNP C C T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr17:78264488C>T c.1232C>T c.(1231-1233)tCa>tTa p.S411L BLCA 17 78268536 78268536 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:78268536G>A c.1489G>A c.(1489-1491)Gac>Aac p.D497N BLCA 17 78272261 78272261 + Missense_Mutation SNP C C A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr17:78272261C>A c.2153C>A c.(2152-2154)aCc>aAc p.T718N BLCA 17 78272305 78272305 + Missense_Mutation SNP C C A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr17:78272305C>A c.2197C>A c.(2197-2199)Caa>Aaa p.Q733K BLCA 17 78280110 78280110 + Missense_Mutation SNP C C G TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr17:78280110C>G c.2269C>G c.(2269-2271)Ctc>Gtc p.L757V BLCA 17 78280188 78280188 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:78280188C>T c.2347C>T c.(2347-2349)Cgt>Tgt p.R783C BLCA 17 78282946 78282946 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr17:78282946G>A c.2630G>A c.(2629-2631)aGa>aAa p.R877K BLCA 17 78293102 78293102 + Nonsense_Mutation SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr17:78293102C>G c.3014C>G c.(3013-3015)tCa>tGa p.S1005* BLCA 17 78293122 78293122 + Intron SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:78293122C>T BLCA 17 78293139 78293139 + Intron SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr17:78293139G>A BLCA 17 78293187 78293187 + Intron SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 g.chr17:78293187G>A BLCA 17 78314024 78314024 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr17:78314024C>T c.5857C>T c.(5857-5859)Cag>Tag p.Q1953* BLCA 17 78314035 78314035 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr17:78314035C>T c.5868C>T c.(5866-5868)ctC>ctT p.L1956L BLCA 17 78317761 78317761 + Silent SNP C C T TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 g.chr17:78317761C>T c.6288C>T c.(6286-6288)atC>atT p.I2096I BLCA 17 78317800 78317800 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr17:78317800G>T c.6327G>T c.(6325-6327)agG>agT p.R2109S BLCA 17 78318559 78318559 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr17:78318559G>A c.6424G>A c.(6424-6426)Gag>Aag p.E2142K BLCA 17 78318808 78318808 + Nonsense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 g.chr17:78318808C>T c.6673C>T c.(6673-6675)Cag>Tag p.Q2225* BLCA 17 78319411 78319411 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 g.chr17:78319411A>G c.7276A>G c.(7276-7278)Aaa>Gaa p.K2426E BLCA 17 78319520 78319520 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr17:78319520C>G c.7385C>G c.(7384-7386)tCc>tGc p.S2462C BLCA 17 78319816 78319816 + Silent SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr17:78319816C>T c.7681C>T c.(7681-7683)Ctg>Ttg p.L2561L BLCA 17 78320135 78320135 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr17:78320135C>G c.8000C>G c.(7999-8001)tCc>tGc p.S2667C BLCA 17 78320894 78320894 + Nonsense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr17:78320894C>G c.8759C>G c.(8758-8760)tCa>tGa p.S2920* BLCA 17 78321172 78321172 + Missense_Mutation SNP A A T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 g.chr17:78321172A>T c.9037A>T c.(9037-9039)Agc>Tgc p.S3013C BLCA 17 78321350 78321350 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr17:78321350C>G c.9215C>G c.(9214-9216)tCt>tGt p.S3072C BLCA 17 78321442 78321442 + Missense_Mutation SNP C C T TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr17:78321442C>T c.9307C>T c.(9307-9309)Ctc>Ttc p.L3103F BLCA 17 78321834 78321834 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr17:78321834C>T c.9699C>T c.(9697-9699)gtC>gtT p.V3233V BLCA 17 78321919 78321919 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr17:78321919G>A c.9784G>A c.(9784-9786)Gct>Act p.A3262T BLCA 17 78321932 78321932 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr17:78321932C>T c.9797C>T c.(9796-9798)gCc>gTc p.A3266V BLCA 17 78324137 78324137 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr17:78324137C>T c.10125C>T c.(10123-10125)ctC>ctT p.L3375L BLCA 17 78327415 78327416 + Frame_Shift_Del DEL AG AG - TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr17:78327415_78327416delAG c.10527_10528delAG c.(10525-10530)acagaafs p.E3510fs BLCA 17 78328356 78328356 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr17:78328356C>G c.10842C>G c.(10840-10842)ctC>ctG p.L3614L BLCA 17 78335677 78335677 + Nonsense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr17:78335677G>T c.11344G>T c.(11344-11346)Gag>Tag p.E3782* BLCA 17 78336962 78336962 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr17:78336962G>A c.11416G>A c.(11416-11418)Gag>Aag p.E3806K BLCA 17 78343322 78343322 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr17:78343322C>T c.12176C>T c.(12175-12177)gCc>gTc p.A4059V BLCA 17 78343329 78343329 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr17:78343329C>T c.12183C>T c.(12181-12183)ttC>ttT p.F4061F BLCA 17 78343399 78343399 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr17:78343399G>A c.12253G>A c.(12253-12255)Gag>Aag p.E4085K BLCA 17 78343595 78343595 + Missense_Mutation SNP C C T TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr17:78343595C>T c.12353C>T c.(12352-12354)tCt>tTt p.S4118F BLCA 17 78346910 78346910 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr17:78346910C>G c.12887C>G c.(12886-12888)tCc>tGc p.S4296C BLCA 17 78350115 78350115 + Silent SNP G G A TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr17:78350115G>A c.13200G>A c.(13198-13200)gtG>gtA p.V4400V BLCA 17 78353431 78353431 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr17:78353431G>A c.13557G>A c.(13555-13557)ccG>ccA p.P4519P BLCA 17 78354694 78354694 + Silent SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr17:78354694G>A c.13704G>A c.(13702-13704)gtG>gtA p.V4568V BLCA 17 78359383 78359383 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr17:78359383C>G c.14501C>G c.(14500-14502)tCc>tGc p.S4834C BLCA 17 78362424 78362424 + Missense_Mutation SNP C C G TCGA-ZF-AA5H-01A-11D-A391-08 TCGA-ZF-AA5H-10A-01D-A394-08 g.chr17:78362424C>G c.14935C>G c.(14935-14937)Ctg>Gtg p.L4979V BLCA 17 78362990 78362990 + Silent SNP G G A TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr17:78362990G>A c.15018G>A c.(15016-15018)tcG>tcA p.S5006S BLCA 17 78363030 78363030 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 g.chr17:78363030G>A c.15058G>A c.(15058-15060)Gat>Aat p.D5020N BLCA 17 78367148 78367148 + Silent SNP G G A TCGA-PQ-A6FN-01A-11D-A31L-08 TCGA-PQ-A6FN-10A-01D-A31J-08 g.chr17:78367148G>A c.15474G>A c.(15472-15474)ctG>ctA p.L5158L BLCA 17 78367292 78367292 + Missense_Mutation SNP G G A TCGA-PQ-A6FN-01A-11D-A31L-08 TCGA-PQ-A6FN-10A-01D-A31J-08 g.chr17:78367292G>A c.15618G>A c.(15616-15618)atG>atA p.M5206I BRCA 17 78261666 78261666 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr17:78261666C>T c.314C>T c.(313-315)tCa>tTa p.S105L BRCA 17 78263574 78263574 + Silent SNP T T G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 g.chr17:78263574T>G c.1050T>G c.(1048-1050)gcT>gcG p.A350A BRCA 17 78264525 78264525 + Silent SNP C C T TCGA-D8-A145-01A-11D-A10Y-09 TCGA-D8-A145-10A-01D-A110-09 g.chr17:78264525C>T c.1269C>T c.(1267-1269)acC>acT p.T423T BRCA 17 78265433 78265433 + Missense_Mutation SNP G G T TCGA-E9-A3QA-01A-61D-A228-09 TCGA-E9-A3QA-10A-01D-A22A-09 g.chr17:78265433G>T c.1278G>T c.(1276-1278)ttG>ttT p.L426F BRCA 17 78280205 78280205 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr17:78280205C>T c.2364C>T c.(2362-2364)atC>atT p.I788I BRCA 17 78291004 78291004 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr17:78291004T>G c.2828T>G c.(2827-2829)gTg>gGg p.V943G BRCA 17 78306165 78306165 + Silent SNP C C T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 g.chr17:78306165C>T c.3877C>T c.(3877-3879)Cta>Tta p.L1293L BRCA 17 78307961 78307961 + Silent SNP C C A TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr17:78307961C>A c.4200C>A c.(4198-4200)ctC>ctA p.L1400L BRCA 17 78311392 78311392 + Missense_Mutation SNP T T C TCGA-D8-A1JK-01A-11D-A13L-09 TCGA-D8-A1JK-10A-01D-A13O-09 g.chr17:78311392T>C c.4534T>C c.(4534-4536)Tcc>Ccc p.S1512P BRCA 17 78311419 78311419 + Missense_Mutation SNP A A G TCGA-E9-A5FL-01A-11D-A27P-09 TCGA-E9-A5FL-10A-01D-A27P-09 g.chr17:78311419A>G c.4561A>G c.(4561-4563)Act>Gct p.T1521A BRCA 17 78313852 78313852 + Silent SNP G G C TCGA-A8-A09I-01A-22W-A050-09 TCGA-A8-A09I-10A-01W-A055-09 g.chr17:78313852G>C c.5685G>C c.(5683-5685)ctG>ctC p.L1895L BRCA 17 78318546 78318546 + Frame_Shift_Del DEL G G - TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chr17:78318546delG c.6411delG c.(6409-6411)gagfs p.E2137fs BRCA 17 78318644 78318644 + Missense_Mutation SNP A A G TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 g.chr17:78318644A>G c.6509A>G c.(6508-6510)tAt>tGt p.Y2170C BRCA 17 78318965 78318965 + Frame_Shift_Del DEL A A - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr17:78318965delA c.6830delA c.(6829-6831)cacfs p.H2277fs BRCA 17 78318967 78318967 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr17:78318967A>C c.6832A>C c.(6832-6834)Atg>Ctg p.M2278L BRCA 17 78320002 78320002 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr17:78320002C>G c.7867C>G c.(7867-7869)Cag>Gag p.Q2623E BRCA 17 78320424 78320424 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:78320424T>C c.8289T>C c.(8287-8289)atT>atC p.I2763I BRCA 17 78320640 78320640 + Silent SNP G G A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr17:78320640G>A c.8505G>A c.(8503-8505)caG>caA p.Q2835Q BRCA 17 78320721 78320721 + Silent SNP G G A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 g.chr17:78320721G>A c.8586G>A c.(8584-8586)ccG>ccA p.P2862P BRCA 17 78320862 78320862 + Missense_Mutation SNP G G T TCGA-AC-A5EH-01A-11D-A28B-09 TCGA-AC-A5EH-10A-01D-A28E-09 g.chr17:78320862G>T c.8727G>T c.(8725-8727)gaG>gaT p.E2909D BRCA 17 78321232 78321232 + Missense_Mutation SNP G G C TCGA-BH-A0B9-01A-11W-A071-09 TCGA-BH-A0B9-10A-01W-A071-09 g.chr17:78321232G>C c.9097G>C c.(9097-9099)Gag>Cag p.E3033Q BRCA 17 78321542 78321542 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr17:78321542A>C c.9407A>C c.(9406-9408)cAc>cCc p.H3136P BRCA 17 78321589 78321589 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:78321589G>T c.9454G>T c.(9454-9456)Gaa>Taa p.E3152* BRCA 17 78321794 78321794 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:78321794G>A c.9659G>A c.(9658-9660)gGc>gAc p.G3220D BRCA 17 78321847 78321847 + Missense_Mutation SNP G G A TCGA-A8-A095-01A-11W-A019-09 TCGA-A8-A095-10A-01W-A021-09 g.chr17:78321847G>A c.9712G>A c.(9712-9714)Ggt>Agt p.G3238S BRCA 17 78325568 78325568 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr17:78325568T>G c.10268T>G c.(10267-10269)gTg>gGg p.V3423G BRCA 17 78326788 78326788 + Frame_Shift_Del DEL T T - TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:78326788delT c.10352delT c.(10351-10353)atgfs p.M3451fs BRCA 17 78326791 78326792 + Frame_Shift_Ins INS - - A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:78326791_78326792insA c.10355_10356insA c.(10354-10359)gtttctfs p.S3453fs BRCA 17 78332203 78332203 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:78332203T>C c.10978T>C c.(10978-10980)Tgg>Cgg p.W3660R BRCA 17 78346457 78346457 + Missense_Mutation SNP A A C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 g.chr17:78346457A>C c.12674A>C c.(12673-12675)tAc>tCc p.Y4225S BRCA 17 78346803 78346803 + Silent SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr17:78346803G>A c.12780G>A c.(12778-12780)ctG>ctA p.L4260L BRCA 17 78348337 78348338 + Frame_Shift_Ins INS - - AG TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 g.chr17:78348337_78348338insAG c.13022_13023insAG c.(13021-13026)gtggccfs p.A4342fs BRCA 17 78350117 78350117 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr17:78350117G>A c.13202G>A c.(13201-13203)aGc>aAc p.S4401N BRCA 17 78351596 78351596 + Splice_Site SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:78351596G>A c.13545G>A c.(13543-13545)gaG>gaA p.E4515E BRCA 17 78358925 78358925 + Silent SNP A A G TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 g.chr17:78358925A>G c.14409A>G c.(14407-14409)caA>caG p.Q4803Q BRCA 17 78360175 78360175 + Missense_Mutation SNP C C T TCGA-A2-A0CW-01A-21D-A10Y-09 TCGA-A2-A0CW-10A-01D-A110-09 g.chr17:78360175C>T c.14665C>T c.(14665-14667)Cgc>Tgc p.R4889C BRCA 17 78362440 78362440 + Missense_Mutation SNP A A G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 g.chr17:78362440A>G c.14951A>G c.(14950-14952)gAc>gGc p.D4984G BRCA 17 78363039 78363039 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr17:78363039G>A c.15067G>A c.(15067-15069)Gaa>Aaa p.E5023K CESC 17 78261737 78261737 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr17:78261737C>T c.385C>T c.(385-387)Cag>Tag p.Q129* CESC 17 78262101 78262101 + Missense_Mutation SNP G G T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 g.chr17:78262101G>T c.749G>T c.(748-750)aGc>aTc p.S250I CESC 17 78269550 78269550 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr17:78269550C>G c.1949C>G c.(1948-1950)tCa>tGa p.S650* CESC 17 78269596 78269596 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr17:78269596C>T c.1995C>T c.(1993-1995)atC>atT p.I665I CESC 17 78280985 78280985 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr17:78280985G>C c.2485G>C c.(2485-2487)Gac>Cac p.D829H CESC 17 78317800 78317800 + Silent SNP G G A TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 g.chr17:78317800G>A c.6327G>A c.(6325-6327)agG>agA p.R2109R CESC 17 78318498 78318498 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr17:78318498C>T c.6363C>T c.(6361-6363)ttC>ttT p.F2121F CESC 17 78318661 78318661 + Missense_Mutation SNP C C G TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr17:78318661C>G c.6526C>G c.(6526-6528)Caa>Gaa p.Q2176E CESC 17 78318879 78318879 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:78318879G>C c.6744G>C c.(6742-6744)aaG>aaC p.K2248N CESC 17 78319163 78319163 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:78319163G>C c.7028G>C c.(7027-7029)aGa>aCa p.R2343T CESC 17 78320002 78320002 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr17:78320002C>G c.7867C>G c.(7867-7869)Cag>Gag p.Q2623E CESC 17 78320023 78320023 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:78320023G>A c.7888G>A c.(7888-7890)Gaa>Aaa p.E2630K CESC 17 78321462 78321462 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 g.chr17:78321462C>T c.9327C>T c.(9325-9327)taC>taT p.Y3109Y CESC 17 78326837 78326837 + Silent SNP C C T TCGA-MY-A5BE-01A-21D-A26G-09 TCGA-MY-A5BE-10A-01D-A26G-09 g.chr17:78326837C>T c.10401C>T c.(10399-10401)ttC>ttT p.F3467F CESC 17 78328272 78328272 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:78328272C>T c.10758C>T c.(10756-10758)ctC>ctT p.L3586L CESC 17 78328309 78328309 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr17:78328309C>T c.10795C>T c.(10795-10797)Cac>Tac p.H3599Y CESC 17 78332128 78332128 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr17:78332128C>T c.10903C>T c.(10903-10905)Ctg>Ttg p.L3635L CESC 17 78336962 78336962 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr17:78336962G>A c.11416G>A c.(11416-11418)Gag>Aag p.E3806K CESC 17 78337555 78337555 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr17:78337555C>T c.11715C>T c.(11713-11715)agC>agT p.S3905S CESC 17 78355466 78355466 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr17:78355466C>T c.13917C>T c.(13915-13917)atC>atT p.I4639I CESC 17 78360057 78360057 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr17:78360057C>A c.14547C>A c.(14545-14547)atC>atA p.I4849I CESC 17 78360193 78360193 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 g.chr17:78360193G>T c.14683G>T c.(14683-14685)Gtc>Ttc p.V4895F CHOL 17 78302195 78302195 + Missense_Mutation SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr17:78302195G>T c.3435G>T c.(3433-3435)gaG>gaT p.E1145D CHOL 17 78325495 78325495 + Missense_Mutation SNP A A G TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr17:78325495A>G c.10195A>G c.(10195-10197)Ata>Gta p.I3399V COAD 17 78261892 78261892 + Silent SNP A A G TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr17:78261892A>G c.540A>G c.(538-540)ggA>ggG p.G180G COAD 17 78268639 78268639 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:78268639C>T c.1592C>T c.(1591-1593)gCg>gTg p.A531V COAD 17 78268724 78268724 + Missense_Mutation SNP T T G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr17:78268724T>G c.1677T>G c.(1675-1677)ttT>ttG p.F559L COAD 17 78269421 78269421 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr17:78269421C>T c.1820C>T c.(1819-1821)aCg>aTg p.T607M COAD 17 78272227 78272227 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr17:78272227C>T c.2119C>T c.(2119-2121)Cgg>Tgg p.R707W COAD 17 78272295 78272295 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:78272295G>A c.2187G>A c.(2185-2187)ccG>ccA p.P729P COAD 17 78280073 78280074 + Frame_Shift_Del DEL GA GA - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:78280073_78280074delGA c.2232_2233delGA c.(2230-2235)atgagafs p.R745fs COAD 17 78314014 78314014 + Silent SNP C C T TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr17:78314014C>T c.5847C>T c.(5845-5847)ttC>ttT p.F1949F COAD 17 78316952 78316952 + Missense_Mutation SNP A A T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78316952A>T c.6010A>T c.(6010-6012)Agg>Tgg p.R2004W COAD 17 78316957 78316957 + Missense_Mutation SNP G G T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78316957G>T c.6015G>T c.(6013-6015)ttG>ttT p.L2005F COAD 17 78316960 78316960 + Missense_Mutation SNP C C G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78316960C>G c.6018C>G c.(6016-6018)caC>caG p.H2006Q COAD 17 78316961 78316961 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:78316961G>A c.6019G>A c.(6019-6021)Gac>Aac p.D2007N COAD 17 78317681 78317681 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:78317681C>A c.6208C>A c.(6208-6210)Ctt>Att p.L2070I COAD 17 78317684 78317684 + Missense_Mutation SNP T T C TCGA-AZ-4682-01B-01D-1408-10 TCGA-AZ-4682-10A-01D-1408-10 g.chr17:78317684T>C c.6211T>C c.(6211-6213)Ttc>Ctc p.F2071L COAD 17 78317684 78317684 + Missense_Mutation SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:78317684T>C c.6211T>C c.(6211-6213)Ttc>Ctc p.F2071L COAD 17 78317685 78317685 + Missense_Mutation SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr17:78317685T>C c.6212T>C c.(6211-6213)tTc>tCc p.F2071S COAD 17 78317685 78317685 + Missense_Mutation SNP T T C TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr17:78317685T>C c.6212T>C c.(6211-6213)tTc>tCc p.F2071S COAD 17 78317686 78317686 + Missense_Mutation SNP C C A TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr17:78317686C>A c.6213C>A c.(6211-6213)ttC>ttA p.F2071L COAD 17 78318750 78318750 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:78318750C>T c.6615C>T c.(6613-6615)tgC>tgT p.C2205C COAD 17 78319225 78319225 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:78319225G>A c.7090G>A c.(7090-7092)Gac>Aac p.D2364N COAD 17 78319406 78319406 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:78319406G>A c.7271G>A c.(7270-7272)tGt>tAt p.C2424Y COAD 17 78319411 78319411 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:78319411A>G c.7276A>G c.(7276-7278)Aaa>Gaa p.K2426E COAD 17 78320163 78320163 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:78320163C>T c.8028C>T c.(8026-8028)acC>acT p.T2676T COAD 17 78320271 78320271 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:78320271G>A c.8136G>A c.(8134-8136)ccG>ccA p.P2712P COAD 17 78320367 78320367 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:78320367G>T c.8232G>T c.(8230-8232)aaG>aaT p.K2744N COAD 17 78321469 78321469 + Missense_Mutation SNP C C G TCGA-AA-3975-01A-01W-0995-10 TCGA-AA-3975-10A-01W-0999-10 g.chr17:78321469C>G c.9334C>G c.(9334-9336)Ctc>Gtc p.L3112V COAD 17 78321478 78321478 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr17:78321478G>A c.9343G>A c.(9343-9345)Gca>Aca p.A3115T COAD 17 78321546 78321546 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr17:78321546C>T c.9411C>T c.(9409-9411)cgC>cgT p.R3137R COAD 17 78321725 78321725 + Missense_Mutation SNP A A C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:78321725A>C c.9590A>C c.(9589-9591)aAg>aCg p.K3197T COAD 17 78321923 78321923 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:78321923C>T c.9788C>T c.(9787-9789)aCg>aTg p.T3263M COAD 17 78324112 78324112 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:78324112C>T c.10100C>T c.(10099-10101)aCg>aTg p.T3367M COAD 17 78324167 78324167 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:78324167C>T c.10155C>T c.(10153-10155)atC>atT p.I3385I COAD 17 78327916 78327916 + Missense_Mutation SNP G G A TCGA-F4-6854-01A-11D-1924-10 TCGA-F4-6854-10A-01D-1924-10 g.chr17:78327916G>A c.10676G>A c.(10675-10677)cGg>cAg p.R3559Q COAD 17 78332235 78332235 + Silent SNP T T C TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr17:78332235T>C c.11010T>C c.(11008-11010)agT>agC p.S3670S COAD 17 78333926 78333926 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:78333926A>C c.11120A>C c.(11119-11121)aAc>aCc p.N3707T COAD 17 78333931 78333931 + Missense_Mutation SNP G G A TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr17:78333931G>A c.11125G>A c.(11125-11127)Gtc>Atc p.V3709I COAD 17 78334002 78334004 + In_Frame_Del DEL AGA AGA - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:78334002_78334004delAGA c.11196_11198delAGA c.(11194-11199)gcagaa>gca p.E3733del COAD 17 78341576 78341576 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:78341576C>T c.11900C>T c.(11899-11901)aCg>aTg p.T3967M COAD 17 78341906 78341906 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:78341906C>T c.12118C>T c.(12118-12120)Cca>Tca p.P4040S COAD 17 78341937 78341937 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr17:78341937C>T c.12149C>T c.(12148-12150)gCg>gTg p.A4050V COAD 17 78346491 78346491 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:78346491C>T c.12708C>T c.(12706-12708)ctC>ctT p.L4236L COAD 17 78348281 78348281 + Silent SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:78348281C>A c.12966C>A c.(12964-12966)ggC>ggA p.G4322G COAD 17 78350234 78350234 + Missense_Mutation SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr17:78350234A>G c.13319A>G c.(13318-13320)gAt>gGt p.D4440G COAD 17 78350235 78350235 + Silent SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr17:78350235T>C c.13320T>C c.(13318-13320)gaT>gaC p.D4440D COAD 17 78354770 78354770 + Missense_Mutation SNP G G A TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr17:78354770G>A c.13780G>A c.(13780-13782)Gcg>Acg p.A4594T COAD 17 78355489 78355489 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:78355489G>A c.13940G>A c.(13939-13941)cGc>cAc p.R4647H COAD 17 78357607 78357607 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:78357607T>C c.14201T>C c.(14200-14202)gTg>gCg p.V4734A COAD 17 78358916 78358916 + Silent SNP C C T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr17:78358916C>T c.14400C>T c.(14398-14400)aaC>aaT p.N4800N COAD 17 78358917 78358917 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:78358917G>A c.14401G>A c.(14401-14403)Gtc>Atc p.V4801I COAD 17 78360131 78360131 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:78360131G>A c.14621G>A c.(14620-14622)cGg>cAg p.R4874Q COAD 17 78363037 78363037 + Frame_Shift_Del DEL G G - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr17:78363037delG c.15065delG c.(15064-15066)tgtfs p.C5022fs COAD 17 78363847 78363847 + Silent SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr17:78363847G>A c.15321G>A c.(15319-15321)gcG>gcA p.A5107A COAD 17 78363858 78363858 + Missense_Mutation SNP C C A TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr17:78363858C>A c.15332C>A c.(15331-15333)cCg>cAg p.P5111Q COAD 17 78363859 78363859 + Silent SNP G G A TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr17:78363859G>A c.15333G>A c.(15331-15333)ccG>ccA p.P5111P COAD 17 78363859 78363859 + Silent SNP G G T TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr17:78363859G>T c.15333G>T c.(15331-15333)ccG>ccT p.P5111P COAD 17 78363929 78363929 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:78363929G>A c.15403G>A c.(15403-15405)Gaa>Aaa p.E5135K COADREAD 17 78261892 78261892 + Silent SNP A A G TCGA-CM-5863-01A-21D-1835-10 TCGA-CM-5863-10A-01D-1835-10 g.chr17:78261892A>G c.540A>G c.(538-540)ggA>ggG p.G180G COADREAD 17 78268639 78268639 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:78268639C>T c.1592C>T c.(1591-1593)gCg>gTg p.A531V COADREAD 17 78268655 78268655 + Missense_Mutation SNP C C G TCGA-AG-3602-01A-02W-0833-10 TCGA-AG-3602-10A-01W-0833-10 g.chr17:78268655C>G c.1608C>G c.(1606-1608)agC>agG p.S536R COADREAD 17 78268724 78268724 + Missense_Mutation SNP T T G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr17:78268724T>G c.1677T>G c.(1675-1677)ttT>ttG p.F559L COADREAD 17 78269421 78269421 + Missense_Mutation SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr17:78269421C>T c.1820C>T c.(1819-1821)aCg>aTg p.T607M COADREAD 17 78272227 78272227 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr17:78272227C>T c.2119C>T c.(2119-2121)Cgg>Tgg p.R707W COADREAD 17 78272295 78272295 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:78272295G>A c.2187G>A c.(2185-2187)ccG>ccA p.P729P COADREAD 17 78280073 78280074 + Frame_Shift_Del DEL GA GA - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:78280073_78280074delGA c.2232_2233delGA c.(2230-2235)atgagafs p.R745fs COADREAD 17 78291028 78291028 + Missense_Mutation SNP A A G TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr17:78291028A>G c.2852A>G c.(2851-2853)cAt>cGt p.H951R COADREAD 17 78314014 78314014 + Silent SNP C C T TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr17:78314014C>T c.5847C>T c.(5845-5847)ttC>ttT p.F1949F COADREAD 17 78316952 78316952 + Missense_Mutation SNP A A T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78316952A>T c.6010A>T c.(6010-6012)Agg>Tgg p.R2004W COADREAD 17 78316957 78316957 + Missense_Mutation SNP G G T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78316957G>T c.6015G>T c.(6013-6015)ttG>ttT p.L2005F COADREAD 17 78316960 78316960 + Missense_Mutation SNP C C G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78316960C>G c.6018C>G c.(6016-6018)caC>caG p.H2006Q COADREAD 17 78316961 78316961 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:78316961G>A c.6019G>A c.(6019-6021)Gac>Aac p.D2007N COADREAD 17 78317012 78317012 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78317012C>T c.6070C>T c.(6070-6072)Cga>Tga p.R2024* COADREAD 17 78317681 78317681 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:78317681C>A c.6208C>A c.(6208-6210)Ctt>Att p.L2070I COADREAD 17 78317684 78317684 + Missense_Mutation SNP T T C TCGA-AZ-4682-01B-01D-1408-10 TCGA-AZ-4682-10A-01D-1408-10 g.chr17:78317684T>C c.6211T>C c.(6211-6213)Ttc>Ctc p.F2071L COADREAD 17 78317684 78317684 + Missense_Mutation SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:78317684T>C c.6211T>C c.(6211-6213)Ttc>Ctc p.F2071L COADREAD 17 78317684 78317684 + Missense_Mutation SNP T T C TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr17:78317684T>C c.6211T>C c.(6211-6213)Ttc>Ctc p.F2071L COADREAD 17 78317685 78317685 + Missense_Mutation SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr17:78317685T>C c.6212T>C c.(6211-6213)tTc>tCc p.F2071S COADREAD 17 78317685 78317685 + Missense_Mutation SNP T T C TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr17:78317685T>C c.6212T>C c.(6211-6213)tTc>tCc p.F2071S COADREAD 17 78317685 78317685 + Missense_Mutation SNP T T C TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr17:78317685T>C c.6212T>C c.(6211-6213)tTc>tCc p.F2071S COADREAD 17 78317686 78317686 + Missense_Mutation SNP C C A TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr17:78317686C>A c.6213C>A c.(6211-6213)ttC>ttA p.F2071L COADREAD 17 78318750 78318750 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:78318750C>T c.6615C>T c.(6613-6615)tgC>tgT p.C2205C COADREAD 17 78319225 78319225 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:78319225G>A c.7090G>A c.(7090-7092)Gac>Aac p.D2364N COADREAD 17 78319406 78319406 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:78319406G>A c.7271G>A c.(7270-7272)tGt>tAt p.C2424Y COADREAD 17 78319411 78319411 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:78319411A>G c.7276A>G c.(7276-7278)Aaa>Gaa p.K2426E COADREAD 17 78319745 78319745 + Missense_Mutation SNP G G A TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr17:78319745G>A c.7610G>A c.(7609-7611)cGt>cAt p.R2537H COADREAD 17 78320137 78320137 + Missense_Mutation SNP A A G TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr17:78320137A>G c.8002A>G c.(8002-8004)Aag>Gag p.K2668E COADREAD 17 78320163 78320163 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:78320163C>T c.8028C>T c.(8026-8028)acC>acT p.T2676T COADREAD 17 78320271 78320271 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:78320271G>A c.8136G>A c.(8134-8136)ccG>ccA p.P2712P COADREAD 17 78320367 78320367 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:78320367G>T c.8232G>T c.(8230-8232)aaG>aaT p.K2744N COADREAD 17 78320610 78320610 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:78320610C>T c.8475C>T c.(8473-8475)tgC>tgT p.C2825C COADREAD 17 78321010 78321010 + Missense_Mutation SNP C C G TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr17:78321010C>G c.8875C>G c.(8875-8877)Ctc>Gtc p.L2959V COADREAD 17 78321469 78321469 + Missense_Mutation SNP C C G TCGA-AA-3975-01A-01W-0995-10 TCGA-AA-3975-10A-01W-0999-10 g.chr17:78321469C>G c.9334C>G c.(9334-9336)Ctc>Gtc p.L3112V COADREAD 17 78321478 78321478 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr17:78321478G>A c.9343G>A c.(9343-9345)Gca>Aca p.A3115T COADREAD 17 78321546 78321546 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr17:78321546C>T c.9411C>T c.(9409-9411)cgC>cgT p.R3137R COADREAD 17 78321725 78321725 + Missense_Mutation SNP A A C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:78321725A>C c.9590A>C c.(9589-9591)aAg>aCg p.K3197T COADREAD 17 78321923 78321923 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:78321923C>T c.9788C>T c.(9787-9789)aCg>aTg p.T3263M COADREAD 17 78324112 78324112 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:78324112C>T c.10100C>T c.(10099-10101)aCg>aTg p.T3367M COADREAD 17 78324167 78324167 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:78324167C>T c.10155C>T c.(10153-10155)atC>atT p.I3385I COADREAD 17 78327916 78327916 + Missense_Mutation SNP G G A TCGA-F4-6854-01A-11D-1924-10 TCGA-F4-6854-10A-01D-1924-10 g.chr17:78327916G>A c.10676G>A c.(10675-10677)cGg>cAg p.R3559Q COADREAD 17 78328244 78328244 + Missense_Mutation SNP C C T TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chr17:78328244C>T c.10730C>T c.(10729-10731)tCt>tTt p.S3577F COADREAD 17 78332235 78332235 + Silent SNP T T C TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr17:78332235T>C c.11010T>C c.(11008-11010)agT>agC p.S3670S COADREAD 17 78333926 78333926 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:78333926A>C c.11120A>C c.(11119-11121)aAc>aCc p.N3707T COADREAD 17 78333931 78333931 + Missense_Mutation SNP G G A TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr17:78333931G>A c.11125G>A c.(11125-11127)Gtc>Atc p.V3709I COADREAD 17 78334002 78334004 + In_Frame_Del DEL AGA AGA - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:78334002_78334004delAGA c.11196_11198delAGA c.(11194-11199)gcagaa>gca p.E3733del COADREAD 17 78337501 78337501 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78337501G>T c.11661G>T c.(11659-11661)aaG>aaT p.K3887N COADREAD 17 78341576 78341576 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:78341576C>T c.11900C>T c.(11899-11901)aCg>aTg p.T3967M COADREAD 17 78341582 78341582 + Missense_Mutation SNP G G T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:78341582G>T c.11906G>T c.(11905-11907)gGg>gTg p.G3969V COADREAD 17 78341906 78341906 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:78341906C>T c.12118C>T c.(12118-12120)Cca>Tca p.P4040S COADREAD 17 78341937 78341937 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr17:78341937C>T c.12149C>T c.(12148-12150)gCg>gTg p.A4050V COADREAD 17 78346491 78346491 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:78346491C>T c.12708C>T c.(12706-12708)ctC>ctT p.L4236L COADREAD 17 78348281 78348281 + Silent SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:78348281C>A c.12966C>A c.(12964-12966)ggC>ggA p.G4322G COADREAD 17 78350234 78350234 + Missense_Mutation SNP A A G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:78350234A>G c.13319A>G c.(13318-13320)gAt>gGt p.D4440G COADREAD 17 78350234 78350234 + Missense_Mutation SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr17:78350234A>G c.13319A>G c.(13318-13320)gAt>gGt p.D4440G COADREAD 17 78350235 78350235 + Silent SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr17:78350235T>C c.13320T>C c.(13318-13320)gaT>gaC p.D4440D COADREAD 17 78354648 78354648 + Missense_Mutation SNP C C T TCGA-AG-3893-01A-01W-1073-09 TCGA-AG-3893-10A-01W-1073-09 g.chr17:78354648C>T c.13658C>T c.(13657-13659)aCg>aTg p.T4553M COADREAD 17 78354770 78354770 + Missense_Mutation SNP G G A TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr17:78354770G>A c.13780G>A c.(13780-13782)Gcg>Acg p.A4594T COADREAD 17 78355489 78355489 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:78355489G>A c.13940G>A c.(13939-13941)cGc>cAc p.R4647H COADREAD 17 78356790 78356790 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78356790T>G c.13990T>G c.(13990-13992)Ttt>Gtt p.F4664V COADREAD 17 78357607 78357607 + Missense_Mutation SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:78357607T>C c.14201T>C c.(14200-14202)gTg>gCg p.V4734A COADREAD 17 78357688 78357688 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:78357688G>A c.14282G>A c.(14281-14283)gGc>gAc p.G4761D COADREAD 17 78358916 78358916 + Silent SNP C C T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr17:78358916C>T c.14400C>T c.(14398-14400)aaC>aaT p.N4800N COADREAD 17 78358917 78358917 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:78358917G>A c.14401G>A c.(14401-14403)Gtc>Atc p.V4801I COADREAD 17 78360131 78360131 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:78360131G>A c.14621G>A c.(14620-14622)cGg>cAg p.R4874Q COADREAD 17 78360567 78360567 + Frame_Shift_Del DEL T T - TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr17:78360567delT c.14798delT c.(14797-14799)attfs p.I4933fs COADREAD 17 78363037 78363037 + Frame_Shift_Del DEL G G - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr17:78363037delG c.15065delG c.(15064-15066)tgtfs p.C5022fs COADREAD 17 78363847 78363847 + Silent SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr17:78363847G>A c.15321G>A c.(15319-15321)gcG>gcA p.A5107A COADREAD 17 78363858 78363858 + Missense_Mutation SNP C C A TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr17:78363858C>A c.15332C>A c.(15331-15333)cCg>cAg p.P5111Q COADREAD 17 78363859 78363859 + Silent SNP G G A TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr17:78363859G>A c.15333G>A c.(15331-15333)ccG>ccA p.P5111P COADREAD 17 78363859 78363859 + Silent SNP G G T TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr17:78363859G>T c.15333G>T c.(15331-15333)ccG>ccT p.P5111P COADREAD 17 78363929 78363929 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:78363929G>A c.15403G>A c.(15403-15405)Gaa>Aaa p.E5135K COADREAD 17 78367182 78367182 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78367182G>T c.15508G>T c.(15508-15510)Gaa>Taa p.E5170* DLBC 17 78237572 78237572 + Missense_Mutation SNP T T C TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr17:78237572T>C c.92T>C c.(91-93)aTa>aCa p.I31T DLBC 17 78263634 78263634 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:78263634A>G c.1110A>G c.(1108-1110)gcA>gcG p.A370A DLBC 17 78332155 78332155 + Missense_Mutation SNP G G A TCGA-FF-8043-01A-11D-2210-10 TCGA-FF-8043-10A-01D-2210-10 g.chr17:78332155G>A c.10930G>A c.(10930-10932)Gac>Aac p.D3644N DLBC 17 78338305 78338305 + Silent SNP C C T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr17:78338305C>T c.11823C>T c.(11821-11823)gtC>gtT p.V3941V DLBC 17 78363033 78363033 + Missense_Mutation SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr17:78363033G>A c.15061G>A c.(15061-15063)Gcc>Acc p.A5021T ESCA 17 78247183 78247183 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr17:78247183G>T c.241G>T c.(241-243)Gcc>Tcc p.A81S ESCA 17 78261934 78261934 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 g.chr17:78261934G>T c.582G>T c.(580-582)ccG>ccT p.P194P ESCA 17 78262164 78262164 + Splice_Site SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr17:78262164T>A c.e4+2 ESCA 17 78268540 78268540 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 g.chr17:78268540T>C c.1493T>C c.(1492-1494)aTa>aCa p.I498T ESCA 17 78272202 78272202 + Silent SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr17:78272202G>C c.2094G>C c.(2092-2094)ctG>ctC p.L698L ESCA 17 78298996 78298996 + Missense_Mutation SNP G G A TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chr17:78298996G>A c.3191G>A c.(3190-3192)tGt>tAt p.C1064Y ESCA 17 78306030 78306030 + Frame_Shift_Del DEL A A - TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr17:78306030delA c.3742delA c.(3742-3744)aagfs p.K1248fs ESCA 17 78311486 78311486 + Missense_Mutation SNP G G C TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr17:78311486G>C c.4628G>C c.(4627-4629)aGa>aCa p.R1543T ESCA 17 78318718 78318718 + Nonsense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 g.chr17:78318718G>T c.6583G>T c.(6583-6585)Gag>Tag p.E2195* ESCA 17 78318720 78318720 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr17:78318720G>T c.6585G>T c.(6583-6585)gaG>gaT p.E2195D ESCA 17 78319356 78319356 + Missense_Mutation SNP G G T TCGA-LN-A7HV-01A-21D-A351-09 TCGA-LN-A7HV-10A-01D-A351-09 g.chr17:78319356G>T c.7221G>T c.(7219-7221)gaG>gaT p.E2407D ESCA 17 78319437 78319437 + Silent SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr17:78319437C>T c.7302C>T c.(7300-7302)agC>agT p.S2434S ESCA 17 78320934 78320934 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 g.chr17:78320934G>T c.8799G>T c.(8797-8799)gcG>gcT p.A2933A ESCA 17 78321682 78321682 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 g.chr17:78321682T>A c.9547T>A c.(9547-9549)Tgg>Agg p.W3183R ESCA 17 78337441 78337441 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:78337441G>A c.11601G>A c.(11599-11601)acG>acA p.T3867T ESCA 17 78341825 78341825 + Missense_Mutation SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr17:78341825G>A c.12037G>A c.(12037-12039)Gac>Aac p.D4013N ESCA 17 78346353 78346353 + Silent SNP C C T TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr17:78346353C>T c.12570C>T c.(12568-12570)tcC>tcT p.S4190S ESCA 17 78350691 78350691 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr17:78350691C>A c.13438C>A c.(13438-13440)Ctt>Att p.L4480I ESCA 17 78353431 78353431 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr17:78353431G>T c.13557G>T c.(13555-13557)ccG>ccT p.P4519P ESCA 17 78360569 78360569 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr17:78360569C>A c.14800C>A c.(14800-14802)Ctc>Atc p.L4934I ESCA 17 78360667 78360667 + Missense_Mutation SNP G G T TCGA-LN-A49O-01A-11D-A247-09 TCGA-LN-A49O-10A-01D-A247-09 g.chr17:78360667G>T c.14898G>T c.(14896-14898)caG>caT p.Q4966H ESCA 17 78363879 78363879 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 g.chr17:78363879G>T c.15353G>T c.(15352-15354)aGc>aTc p.S5118I ESCA 17 78367233 78367233 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:78367233C>A c.15559C>A c.(15559-15561)Ctc>Atc p.L5187I GBM 17 78262155 78262155 + Missense_Mutation SNP C C G TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 g.chr17:78262155C>G c.803C>G c.(802-804)gCc>gGc p.A268G GBM 17 78282912 78282912 + Nonsense_Mutation SNP G G T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 g.chr17:78282912G>T c.2596G>T c.(2596-2598)Gag>Tag p.E866* GBM 17 78349658 78349658 + Frame_Shift_Del DEL C C - TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr17:78349658delC c.13173delC c.(13171-13173)cacfs p.H4391fs GBM 17 78355436 78355436 + Silent SNP G G A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr17:78355436G>A c.13887G>A c.(13885-13887)aaG>aaA p.K4629K GBMLGG 17 78237505 78237505 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78237505G>A c.25G>A c.(25-27)Gtc>Atc p.V9I GBMLGG 17 78262155 78262155 + Missense_Mutation SNP C C G TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 g.chr17:78262155C>G c.803C>G c.(802-804)gCc>gGc p.A268G GBMLGG 17 78272171 78272171 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78272171C>T c.2063C>T c.(2062-2064)aCg>aTg p.T688M GBMLGG 17 78282876 78282876 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78282876G>T c.2560G>T c.(2560-2562)Gcc>Tcc p.A854S GBMLGG 17 78282912 78282912 + Nonsense_Mutation SNP G G T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 g.chr17:78282912G>T c.2596G>T c.(2596-2598)Gag>Tag p.E866* GBMLGG 17 78314123 78314123 + Missense_Mutation SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78314123G>C c.5956G>C c.(5956-5958)Gtt>Ctt p.V1986L GBMLGG 17 78317077 78317077 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78317077G>A c.6135G>A c.(6133-6135)gcG>gcA p.A2045A GBMLGG 17 78319360 78319360 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 g.chr17:78319360C>T c.7225C>T c.(7225-7227)Cgg>Tgg p.R2409W GBMLGG 17 78319744 78319744 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78319744C>T c.7609C>T c.(7609-7611)Cgt>Tgt p.R2537C GBMLGG 17 78320934 78320934 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr17:78320934G>A c.8799G>A c.(8797-8799)gcG>gcA p.A2933A GBMLGG 17 78321958 78321958 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78321958C>A c.9823C>A c.(9823-9825)Ctg>Atg p.L3275M GBMLGG 17 78327925 78327925 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78327925T>C c.10685T>C c.(10684-10686)gTg>gCg p.V3562A GBMLGG 17 78345780 78345780 + Missense_Mutation SNP C C A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 g.chr17:78345780C>A c.12532C>A c.(12532-12534)Ctg>Atg p.L4178M GBMLGG 17 78349658 78349658 + Frame_Shift_Del DEL C C - TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr17:78349658delC c.13173delC c.(13171-13173)cacfs p.H4391fs GBMLGG 17 78354716 78354716 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr17:78354716C>T c.13726C>T c.(13726-13728)Cca>Tca p.P4576S GBMLGG 17 78355436 78355436 + Silent SNP G G A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr17:78355436G>A c.13887G>A c.(13885-13887)aaG>aaA p.K4629K HNSC 17 78247078 78247078 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr17:78247078G>A c.136G>A c.(136-138)Gag>Aag p.E46K HNSC 17 78263552 78263553 + Frame_Shift_Ins INS - - G TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr17:78263552_78263553insG c.1028_1029insG c.(1027-1032)gaggggfs p.EG343fs HNSC 17 78263580 78263580 + Silent SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 g.chr17:78263580G>A c.1056G>A c.(1054-1056)gtG>gtA p.V352V HNSC 17 78265449 78265449 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr17:78265449C>G c.1294C>G c.(1294-1296)Ctt>Gtt p.L432V HNSC 17 78269374 78269374 + Missense_Mutation SNP G G C TCGA-CN-6994-01A-11D-1912-08 TCGA-CN-6994-10A-01D-1912-08 g.chr17:78269374G>C c.1773G>C c.(1771-1773)tgG>tgC p.W591C HNSC 17 78286919 78286919 + Silent SNP C C T TCGA-HD-A6I0-01A-11D-A31L-08 TCGA-HD-A6I0-10A-01D-A31J-08 g.chr17:78286919C>T c.2763C>T c.(2761-2763)aaC>aaT p.N921N HNSC 17 78286925 78286925 + Silent SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr17:78286925C>T c.2769C>T c.(2767-2769)ctC>ctT p.L923L HNSC 17 78293223 78293223 + Intron SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr17:78293223A>T HNSC 17 78293249 78293249 + Intron SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:78293249C>T HNSC 17 78293250 78293250 + Intron SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:78293250C>T HNSC 17 78313928 78313928 + Silent SNP C C A TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr17:78313928C>A c.5761C>A c.(5761-5763)Cga>Aga p.R1921R HNSC 17 78317686 78317686 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr17:78317686C>G c.6213C>G c.(6211-6213)ttC>ttG p.F2071L HNSC 17 78317738 78317738 + Missense_Mutation SNP C C T TCGA-UF-A719-01A-12D-A34J-08 TCGA-UF-A719-10A-01D-A34M-08 g.chr17:78317738C>T c.6265C>T c.(6265-6267)Cgg>Tgg p.R2089W HNSC 17 78318661 78318661 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 g.chr17:78318661C>A c.6526C>A c.(6526-6528)Caa>Aaa p.Q2176K HNSC 17 78319512 78319512 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr17:78319512G>C c.7377G>C c.(7375-7377)atG>atC p.M2459I HNSC 17 78319549 78319549 + Missense_Mutation SNP T T G TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr17:78319549T>G c.7414T>G c.(7414-7416)Ttc>Gtc p.F2472V HNSC 17 78319551 78319551 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 g.chr17:78319551C>T c.7416C>T c.(7414-7416)ttC>ttT p.F2472F HNSC 17 78319633 78319633 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 g.chr17:78319633G>C c.7498G>C c.(7498-7500)Gaa>Caa p.E2500Q HNSC 17 78319809 78319809 + Silent SNP C C G TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr17:78319809C>G c.7674C>G c.(7672-7674)tcC>tcG p.S2558S HNSC 17 78319833 78319833 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:78319833C>T c.7698C>T c.(7696-7698)taC>taT p.Y2566Y HNSC 17 78320513 78320513 + Nonsense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr17:78320513C>G c.8378C>G c.(8377-8379)tCa>tGa p.S2793* HNSC 17 78320894 78320894 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 g.chr17:78320894C>T c.8759C>T c.(8758-8760)tCa>tTa p.S2920L HNSC 17 78320969 78320969 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr17:78320969G>A c.8834G>A c.(8833-8835)cGc>cAc p.R2945H HNSC 17 78321214 78321214 + Nonsense_Mutation SNP C C T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr17:78321214C>T c.9079C>T c.(9079-9081)Cag>Tag p.Q3027* HNSC 17 78321708 78321708 + Silent SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 g.chr17:78321708C>A c.9573C>A c.(9571-9573)ctC>ctA p.L3191L HNSC 17 78321813 78321813 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr17:78321813C>T c.9678C>T c.(9676-9678)tgC>tgT p.C3226C HNSC 17 78321853 78321853 + Missense_Mutation SNP C C T TCGA-QK-A8Z9-01B-11D-A391-08 TCGA-QK-A8Z9-10A-01D-A394-08 g.chr17:78321853C>T c.9718C>T c.(9718-9720)Cgg>Tgg p.R3240W HNSC 17 78321903 78321903 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr17:78321903G>A c.9768G>A c.(9766-9768)tcG>tcA p.S3256S HNSC 17 78321975 78321975 + Silent SNP G G A TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr17:78321975G>A c.9840G>A c.(9838-9840)gcG>gcA p.A3280A HNSC 17 78322014 78322014 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr17:78322014C>A c.9879C>A c.(9877-9879)caC>caA p.H3293Q HNSC 17 78326742 78326742 + Missense_Mutation SNP C C A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 g.chr17:78326742C>A c.10306C>A c.(10306-10308)Ctg>Atg p.L3436M HNSC 17 78327389 78327389 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr17:78327389G>C c.10501G>C c.(10501-10503)Gag>Cag p.E3501Q HNSC 17 78332094 78332094 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:78332094C>T c.10869C>T c.(10867-10869)acC>acT p.T3623T HNSC 17 78332134 78332134 + Missense_Mutation SNP G G A TCGA-QK-A64Z-01A-11D-A30E-08 TCGA-QK-A64Z-10A-01D-A30H-08 g.chr17:78332134G>A c.10909G>A c.(10909-10911)Gcg>Acg p.A3637T HNSC 17 78337076 78337076 + Missense_Mutation SNP G G A TCGA-CN-6994-01A-11D-1912-08 TCGA-CN-6994-10A-01D-1912-08 g.chr17:78337076G>A c.11530G>A c.(11530-11532)Gaa>Aaa p.E3844K HNSC 17 78338337 78338337 + Missense_Mutation SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr17:78338337T>A c.11855T>A c.(11854-11856)gTc>gAc p.V3952D HNSC 17 78338338 78338338 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr17:78338338C>T c.11856C>T c.(11854-11856)gtC>gtT p.V3952V HNSC 17 78341825 78341825 + Missense_Mutation SNP G G A TCGA-TN-A7HI-01A-11D-A34J-08 TCGA-TN-A7HI-10A-01D-A34M-08 g.chr17:78341825G>A c.12037G>A c.(12037-12039)Gac>Aac p.D4013N HNSC 17 78343325 78343325 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 g.chr17:78343325G>A c.12179G>A c.(12178-12180)cGc>cAc p.R4060H HNSC 17 78345702 78345702 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr17:78345702G>A c.12454G>A c.(12454-12456)Gaa>Aaa p.E4152K HNSC 17 78348306 78348306 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr17:78348306G>A c.12991G>A c.(12991-12993)Ggc>Agc p.G4331S HNSC 17 78348328 78348328 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 g.chr17:78348328G>A c.13013G>A c.(13012-13014)cGt>cAt p.R4338H HNSC 17 78351573 78351573 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr17:78351573G>A c.13522G>A c.(13522-13524)Ggc>Agc p.G4508S HNSC 17 78355364 78355364 + Silent SNP T T A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr17:78355364T>A c.13815T>A c.(13813-13815)atT>atA p.I4605I HNSC 17 78355400 78355400 + Missense_Mutation SNP G G C TCGA-CN-A6V7-01A-12D-A34J-08 TCGA-CN-A6V7-10A-01D-A34M-08 g.chr17:78355400G>C c.13851G>C c.(13849-13851)caG>caC p.Q4617H HNSC 17 78355470 78355470 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 g.chr17:78355470G>A c.13921G>A c.(13921-13923)Gtg>Atg p.V4641M HNSC 17 78358943 78358943 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr17:78358943C>T c.14427C>T c.(14425-14427)atC>atT p.I4809I HNSC 17 78360157 78360157 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr17:78360157C>G c.14647C>G c.(14647-14649)Ctc>Gtc p.L4883V HNSC 17 78360548 78360548 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr17:78360548C>T c.14779C>T c.(14779-14781)Cgg>Tgg p.R4927W HNSC 17 78363062 78363062 + Silent SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr17:78363062C>G c.15090C>G c.(15088-15090)gtC>gtG p.V5030V HNSC 17 78363670 78363670 + Missense_Mutation SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chr17:78363670C>G c.15238C>G c.(15238-15240)Cag>Gag p.Q5080E KICH 17 78318717 78318717 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:78318717G>A c.6582G>A c.(6580-6582)ccG>ccA p.P2194P KICH 17 78320904 78320904 + Silent SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:78320904C>T c.8769C>T c.(8767-8769)ctC>ctT p.L2923L KICH 17 78326830 78326830 + Missense_Mutation SNP A A G TCGA-KL-8330-01A-11D-2310-10 TCGA-KL-8330-11A-01D-2310-10 g.chr17:78326830A>G c.10394A>G c.(10393-10395)cAg>cGg p.Q3465R KIPAN 17 78293016 78293016 + Silent SNP C C G TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr17:78293016C>G c.2928C>G c.(2926-2928)gcC>gcG p.A976A KIPAN 17 78318717 78318717 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:78318717G>A c.6582G>A c.(6580-6582)ccG>ccA p.P2194P KIPAN 17 78320904 78320904 + Silent SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr17:78320904C>T c.8769C>T c.(8767-8769)ctC>ctT p.L2923L KIPAN 17 78321044 78321044 + Missense_Mutation SNP C C T TCGA-2Z-A9JK-01A-11D-A42J-10 TCGA-2Z-A9JK-10A-01D-A42M-10 g.chr17:78321044C>T c.8909C>T c.(8908-8910)tCa>tTa p.S2970L KIPAN 17 78321576 78321576 + Silent SNP C C T TCGA-DW-7834-01A-11D-2136-08 TCGA-DW-7834-10A-01D-2136-08 g.chr17:78321576C>T c.9441C>T c.(9439-9441)cgC>cgT p.R3147R KIPAN 17 78321624 78321624 + Frame_Shift_Del DEL C C - TCGA-GL-A4EM-01A-11D-A25F-10 TCGA-GL-A4EM-10A-01D-A25F-10 g.chr17:78321624delC c.9489delC c.(9487-9489)atcfs p.I3163fs KIPAN 17 78321744 78321744 + Silent SNP A A G TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr17:78321744A>G c.9609A>G c.(9607-9609)gcA>gcG p.A3203A KIPAN 17 78326830 78326830 + Missense_Mutation SNP A A G TCGA-KL-8330-01A-11D-2310-10 TCGA-KL-8330-11A-01D-2310-10 g.chr17:78326830A>G c.10394A>G c.(10393-10395)cAg>cGg p.Q3465R KIPAN 17 78328249 78328249 + Silent SNP T T C TCGA-CZ-5982-01A-11D-1669-08 TCGA-CZ-5982-11A-01D-1669-08 g.chr17:78328249T>C c.10735T>C c.(10735-10737)Ttg>Ctg p.L3579L KIPAN 17 78332113 78332113 + Missense_Mutation SNP G G A TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr17:78332113G>A c.10888G>A c.(10888-10890)Ggt>Agt p.G3630S KIPAN 17 78337077 78337077 + Missense_Mutation SNP A A C TCGA-AK-3451-01A-02D-1251-10 TCGA-AK-3451-10A-01D-1251-10 g.chr17:78337077A>C c.11531A>C c.(11530-11532)gAa>gCa p.E3844A KIPAN 17 78337081 78337081 + Silent SNP C C G TCGA-AK-3451-01A-02D-1251-10 TCGA-AK-3451-10A-01D-1251-10 g.chr17:78337081C>G c.11535C>G c.(11533-11535)gcC>gcG p.A3845A KIPAN 17 78343583 78343584 + Frame_Shift_Ins INS - - A TCGA-BP-4968-01A-01D-1462-08 TCGA-BP-4968-11A-01D-1462-08 g.chr17:78343583_78343584insA c.12341_12342insA c.(12340-12345)acaaaafs p.TK4114fs KIPAN 17 78350139 78350141 + In_Frame_Del DEL GAT GAT - TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr17:78350139_78350141delGAT c.13224_13226delGAT c.(13222-13227)aagatc>aac p.4408_4409KI>N KIPAN 17 78350219 78350219 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 g.chr17:78350219G>A c.13304G>A c.(13303-13305)aGt>aAt p.S4435N KIPAN 17 78355391 78355391 + Silent SNP C C G TCGA-G7-6789-01A-11D-1961-08 TCGA-G7-6789-10A-01D-1962-08 g.chr17:78355391C>G c.13842C>G c.(13840-13842)ggC>ggG p.G4614G KIPAN 17 78356798 78356798 + Silent SNP A A G TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr17:78356798A>G c.13998A>G c.(13996-13998)acA>acG p.T4666T KIRC 17 78321744 78321744 + Silent SNP A A G TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr17:78321744A>G c.9609A>G c.(9607-9609)gcA>gcG p.A3203A KIRC 17 78328249 78328249 + Silent SNP T T C TCGA-CZ-5982-01A-11D-1669-08 TCGA-CZ-5982-11A-01D-1669-08 g.chr17:78328249T>C c.10735T>C c.(10735-10737)Ttg>Ctg p.L3579L KIRC 17 78337077 78337077 + Missense_Mutation SNP A A C TCGA-AK-3451-01A-02D-1251-10 TCGA-AK-3451-10A-01D-1251-10 g.chr17:78337077A>C c.11531A>C c.(11530-11532)gAa>gCa p.E3844A KIRC 17 78337081 78337081 + Silent SNP C C G TCGA-AK-3451-01A-02D-1251-10 TCGA-AK-3451-10A-01D-1251-10 g.chr17:78337081C>G c.11535C>G c.(11533-11535)gcC>gcG p.A3845A KIRC 17 78343583 78343584 + Frame_Shift_Ins INS - - A TCGA-BP-4968-01A-01D-1462-08 TCGA-BP-4968-11A-01D-1462-08 g.chr17:78343583_78343584insA c.12341_12342insA c.(12340-12345)acaaaafs p.TK4114fs KIRC 17 78350219 78350219 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 g.chr17:78350219G>A c.13304G>A c.(13303-13305)aGt>aAt p.S4435N KIRP 17 78293016 78293016 + Silent SNP C C G TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr17:78293016C>G c.2928C>G c.(2926-2928)gcC>gcG p.A976A KIRP 17 78321044 78321044 + Missense_Mutation SNP C C T TCGA-2Z-A9JK-01A-11D-A42J-10 TCGA-2Z-A9JK-10A-01D-A42M-10 g.chr17:78321044C>T c.8909C>T c.(8908-8910)tCa>tTa p.S2970L KIRP 17 78321576 78321576 + Silent SNP C C T TCGA-DW-7834-01A-11D-2136-08 TCGA-DW-7834-10A-01D-2136-08 g.chr17:78321576C>T c.9441C>T c.(9439-9441)cgC>cgT p.R3147R KIRP 17 78321624 78321624 + Frame_Shift_Del DEL C C - TCGA-GL-A4EM-01A-11D-A25F-10 TCGA-GL-A4EM-10A-01D-A25F-10 g.chr17:78321624delC c.9489delC c.(9487-9489)atcfs p.I3163fs KIRP 17 78332113 78332113 + Missense_Mutation SNP G G A TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr17:78332113G>A c.10888G>A c.(10888-10890)Ggt>Agt p.G3630S KIRP 17 78350139 78350141 + In_Frame_Del DEL GAT GAT - TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr17:78350139_78350141delGAT c.13224_13226delGAT c.(13222-13227)aagatc>aac p.4408_4409KI>N KIRP 17 78355391 78355391 + Silent SNP C C G TCGA-G7-6789-01A-11D-1961-08 TCGA-G7-6789-10A-01D-1962-08 g.chr17:78355391C>G c.13842C>G c.(13840-13842)ggC>ggG p.G4614G KIRP 17 78356798 78356798 + Silent SNP A A G TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr17:78356798A>G c.13998A>G c.(13996-13998)acA>acG p.T4666T LAML 17 78320603 78320603 + Missense_Mutation SNP G G A TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 g.chr17:78320603G>A c.8468G>A c.(8467-8469)cGg>cAg p.R2823Q LAML 17 78321433 78321433 + Missense_Mutation SNP G G C TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 g.chr17:78321433G>C c.9298G>C c.(9298-9300)Gtg>Ctg p.V3100L LGG 17 78237505 78237505 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78237505G>A c.25G>A c.(25-27)Gtc>Atc p.V9I LGG 17 78272171 78272171 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78272171C>T c.2063C>T c.(2062-2064)aCg>aTg p.T688M LGG 17 78282876 78282876 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78282876G>T c.2560G>T c.(2560-2562)Gcc>Tcc p.A854S LGG 17 78314123 78314123 + Missense_Mutation SNP G G C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78314123G>C c.5956G>C c.(5956-5958)Gtt>Ctt p.V1986L LGG 17 78317077 78317077 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78317077G>A c.6135G>A c.(6133-6135)gcG>gcA p.A2045A LGG 17 78319360 78319360 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 g.chr17:78319360C>T c.7225C>T c.(7225-7227)Cgg>Tgg p.R2409W LGG 17 78319744 78319744 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78319744C>T c.7609C>T c.(7609-7611)Cgt>Tgt p.R2537C LGG 17 78320934 78320934 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr17:78320934G>A c.8799G>A c.(8797-8799)gcG>gcA p.A2933A LGG 17 78321958 78321958 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78321958C>A c.9823C>A c.(9823-9825)Ctg>Atg p.L3275M LGG 17 78327925 78327925 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78327925T>C c.10685T>C c.(10684-10686)gTg>gCg p.V3562A LGG 17 78345780 78345780 + Missense_Mutation SNP C C A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 g.chr17:78345780C>A c.12532C>A c.(12532-12534)Ctg>Atg p.L4178M LGG 17 78354716 78354716 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr17:78354716C>T c.13726C>T c.(13726-13728)Cca>Tca p.P4576S LIHC 17 78247203 78247203 + Splice_Site SNP A A C TCGA-DD-AADE-01A-11D-A40R-10 TCGA-DD-AADE-10A-01D-A40U-10 g.chr17:78247203A>C c.261A>C c.(259-261)gaA>gaC p.E87D LIHC 17 78261894 78261894 + Missense_Mutation SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr17:78261894A>G c.542A>G c.(541-543)gAg>gGg p.E181G LIHC 17 78269372 78269372 + Missense_Mutation SNP T T C TCGA-DD-AADK-01A-11D-A40R-10 TCGA-DD-AADK-10A-01D-A40U-10 g.chr17:78269372T>C c.1771T>C c.(1771-1773)Tgg>Cgg p.W591R LIHC 17 78280933 78280933 + Silent SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr17:78280933T>C c.2433T>C c.(2431-2433)gtT>gtC p.V811V LIHC 17 78319225 78319225 + Missense_Mutation SNP G G A TCGA-UB-A7MA-01A-11D-A33Q-10 TCGA-UB-A7MA-10A-01D-A33Q-10 g.chr17:78319225G>A c.7090G>A c.(7090-7092)Gac>Aac p.D2364N LIHC 17 78321423 78321423 + Silent SNP A A T TCGA-BD-A3ER-01A-11D-A20W-10 TCGA-BD-A3ER-11A-11D-A20W-10 g.chr17:78321423A>T c.9288A>T c.(9286-9288)acA>acT p.T3096T LIHC 17 78327327 78327327 + Missense_Mutation SNP G G T TCGA-DD-A73E-01A-12D-A32G-10 TCGA-DD-A73E-10A-01D-A32G-10 g.chr17:78327327G>T c.10439G>T c.(10438-10440)cGg>cTg p.R3480L LIHC 17 78327346 78327346 + Silent SNP G G A TCGA-DD-AACW-01A-11D-A40R-10 TCGA-DD-AACW-10A-01D-A40U-10 g.chr17:78327346G>A c.10458G>A c.(10456-10458)gaG>gaA p.E3486E LIHC 17 78328292 78328292 + Missense_Mutation SNP A A G TCGA-BC-A10T-01A-11D-A12Z-10 TCGA-BC-A10T-11A-11D-A12Z-10 g.chr17:78328292A>G c.10778A>G c.(10777-10779)cAa>cGa p.Q3593R LIHC 17 78328357 78328357 + Missense_Mutation SNP C C A TCGA-EP-A2KC-01A-11D-A20W-10 TCGA-EP-A2KC-10A-01D-A20W-10 g.chr17:78328357C>A c.10843C>A c.(10843-10845)Cag>Aag p.Q3615K LIHC 17 78335538 78335538 + Silent SNP G G A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr17:78335538G>A c.11205G>A c.(11203-11205)ctG>ctA p.L3735L LIHC 17 78341576 78341576 + Missense_Mutation SNP C C T TCGA-DD-A3A2-01A-11D-A20W-10 TCGA-DD-A3A2-11A-11D-A20W-10 g.chr17:78341576C>T c.11900C>T c.(11899-11901)aCg>aTg p.T3967M LIHC 17 78341922 78341922 + Missense_Mutation SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr17:78341922C>A c.12134C>A c.(12133-12135)cCa>cAa p.P4045Q LIHC 17 78346832 78346832 + Missense_Mutation SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr17:78346832T>C c.12809T>C c.(12808-12810)gTg>gCg p.V4270A LIHC 17 78363961 78363961 + Missense_Mutation SNP A A C TCGA-CC-A9FV-01A-11D-A36X-10 TCGA-CC-A9FV-10A-01D-A370-10 g.chr17:78363961A>C c.15435A>C c.(15433-15435)caA>caC p.Q5145H LUAD 17 78261710 78261710 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 g.chr17:78261710C>T c.358C>T c.(358-360)Ctg>Ttg p.L120L LUAD 17 78262066 78262066 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr17:78262066C>T c.714C>T c.(712-714)gcC>gcT p.A238A LUAD 17 78262111 78262111 + Silent SNP C C T TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr17:78262111C>T c.759C>T c.(757-759)ccC>ccT p.P253P LUAD 17 78262505 78262505 + Missense_Mutation SNP G G A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr17:78262505G>A c.884G>A c.(883-885)aGa>aAa p.R295K LUAD 17 78265440 78265440 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr17:78265440G>C c.1285G>C c.(1285-1287)Gac>Cac p.D429H LUAD 17 78265623 78265623 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr17:78265623G>T c.1468G>T c.(1468-1470)Gga>Tga p.G490* LUAD 17 78268749 78268749 + Missense_Mutation SNP A A G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr17:78268749A>G c.1702A>G c.(1702-1704)Att>Gtt p.I568V LUAD 17 78268764 78268764 + Missense_Mutation SNP G G T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr17:78268764G>T c.1717G>T c.(1717-1719)Gca>Tca p.A573S LUAD 17 78269454 78269454 + Missense_Mutation SNP G G A TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr17:78269454G>A c.1853G>A c.(1852-1854)aGt>aAt p.S618N LUAD 17 78272184 78272184 + Silent SNP G G T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr17:78272184G>T c.2076G>T c.(2074-2076)ctG>ctT p.L692L LUAD 17 78280178 78280178 + Missense_Mutation SNP G G T TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr17:78280178G>T c.2337G>T c.(2335-2337)gaG>gaT p.E779D LUAD 17 78280206 78280206 + Silent SNP C C T TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr17:78280206C>T c.2365C>T c.(2365-2367)Ctg>Ttg p.L789L LUAD 17 78286894 78286894 + Nonsense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr17:78286894G>A c.2738G>A c.(2737-2739)tGg>tAg p.W913* LUAD 17 78291021 78291021 + Frame_Shift_Del DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr17:78291021delG c.2845delG c.(2845-2847)gcgfs p.A949fs LUAD 17 78293080 78293080 + Missense_Mutation SNP T T C TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr17:78293080T>C c.2992T>C c.(2992-2994)Tgc>Cgc p.C998R LUAD 17 78293205 78293205 + Intron SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr17:78293205C>G LUAD 17 78293272 78293272 + Intron SNP G G A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr17:78293272G>A LUAD 17 78316967 78316967 + Missense_Mutation SNP A A G TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr17:78316967A>G c.6025A>G c.(6025-6027)Atg>Gtg p.M2009V LUAD 17 78317028 78317028 + Missense_Mutation SNP A A T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr17:78317028A>T c.6086A>T c.(6085-6087)cAg>cTg p.Q2029L LUAD 17 78318726 78318726 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr17:78318726C>G c.6591C>G c.(6589-6591)tgC>tgG p.C2197W LUAD 17 78318846 78318846 + Silent SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 g.chr17:78318846G>T c.6711G>T c.(6709-6711)ccG>ccT p.P2237P LUAD 17 78318885 78318885 + Silent SNP C C T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr17:78318885C>T c.6750C>T c.(6748-6750)ttC>ttT p.F2250F LUAD 17 78318930 78318930 + Silent SNP A A G TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr17:78318930A>G c.6795A>G c.(6793-6795)ccA>ccG p.P2265P LUAD 17 78319153 78319153 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr17:78319153G>T c.7018G>T c.(7018-7020)Gtc>Ttc p.V2340F LUAD 17 78319272 78319272 + Silent SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr17:78319272G>T c.7137G>T c.(7135-7137)ctG>ctT p.L2379L LUAD 17 78319600 78319600 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr17:78319600G>A c.7465G>A c.(7465-7467)Gcc>Acc p.A2489T LUAD 17 78319618 78319618 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 g.chr17:78319618A>G c.7483A>G c.(7483-7485)Ata>Gta p.I2495V LUAD 17 78320002 78320002 + Missense_Mutation SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr17:78320002C>G c.7867C>G c.(7867-7869)Cag>Gag p.Q2623E LUAD 17 78320202 78320202 + Silent SNP C C T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr17:78320202C>T c.8067C>T c.(8065-8067)atC>atT p.I2689I LUAD 17 78320203 78320203 + Missense_Mutation SNP G G A TCGA-MP-A4T6-01A-32D-A25L-08 TCGA-MP-A4T6-10A-01D-A25L-08 g.chr17:78320203G>A c.8068G>A c.(8068-8070)Ggg>Agg p.G2690R LUAD 17 78320969 78320969 + Missense_Mutation SNP G G A TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr17:78320969G>A c.8834G>A c.(8833-8835)cGc>cAc p.R2945H LUAD 17 78321357 78321357 + Silent SNP C C T TCGA-44-3919-01A-02D-1458-08 TCGA-44-3919-10A-01D-1458-08 g.chr17:78321357C>T c.9222C>T c.(9220-9222)ttC>ttT p.F3074F LUAD 17 78321478 78321478 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr17:78321478G>A c.9343G>A c.(9343-9345)Gca>Aca p.A3115T LUAD 17 78321620 78321620 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr17:78321620C>T c.9485C>T c.(9484-9486)cCc>cTc p.P3162L LUAD 17 78325513 78325513 + Missense_Mutation SNP A A T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr17:78325513A>T c.10213A>T c.(10213-10215)Ata>Tta p.I3405L LUAD 17 78327389 78327389 + Missense_Mutation SNP G G C TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr17:78327389G>C c.10501G>C c.(10501-10503)Gag>Cag p.E3501Q LUAD 17 78327429 78327429 + Missense_Mutation SNP A A G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:78327429A>G c.10541A>G c.(10540-10542)aAg>aGg p.K3514R LUAD 17 78327866 78327866 + Silent SNP C C T TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr17:78327866C>T c.10626C>T c.(10624-10626)agC>agT p.S3542S LUAD 17 78333913 78333913 + Missense_Mutation SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr17:78333913G>A c.11107G>A c.(11107-11109)Gag>Aag p.E3703K LUAD 17 78349667 78349667 + Silent SNP A A T TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr17:78349667A>T c.13182A>T c.(13180-13182)ccA>ccT p.P4394P LUAD 17 78350164 78350164 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr17:78350164C>T c.13249C>T c.(13249-13251)Cgt>Tgt p.R4417C LUAD 17 78350335 78350335 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr17:78350335A>C c.13420A>C c.(13420-13422)Acc>Ccc p.T4474P LUAD 17 78357570 78357570 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr17:78357570C>T c.14164C>T c.(14164-14166)Cca>Tca p.P4722S LUAD 17 78357710 78357710 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr17:78357710C>G c.14304C>G c.(14302-14304)ctC>ctG p.L4768L LUAD 17 78359384 78359384 + Silent SNP C C G TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr17:78359384C>G c.14502C>G c.(14500-14502)tcC>tcG p.S4834S LUAD 17 78359421 78359421 + Splice_Site SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr17:78359421G>T c.14539G>T c.(14539-14541)Ggt>Tgt p.G4847C LUAD 17 78360641 78360641 + Silent SNP C C A TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr17:78360641C>A c.14872C>A c.(14872-14874)Cgg>Agg p.R4958R LUSC 17 78268622 78268622 + Silent SNP G G A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr17:78268622G>A c.1575G>A c.(1573-1575)ggG>ggA p.G525G LUSC 17 78269537 78269537 + Missense_Mutation SNP C C T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr17:78269537C>T c.1936C>T c.(1936-1938)Cac>Tac p.H646Y LUSC 17 78272202 78272202 + Silent SNP G G T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr17:78272202G>T c.2094G>T c.(2092-2094)ctG>ctT p.L698L LUSC 17 78272248 78272248 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr17:78272248C>G c.2140C>G c.(2140-2142)Cag>Gag p.Q714E LUSC 17 78282825 78282825 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:78282825G>A c.2509G>A c.(2509-2511)Gag>Aag p.E837K LUSC 17 78282825 78282825 + Nonsense_Mutation SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr17:78282825G>T c.2509G>T c.(2509-2511)Gag>Tag p.E837* LUSC 17 78282825 78282825 + Nonsense_Mutation SNP G G T TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr17:78282825G>T c.2509G>T c.(2509-2511)Gag>Tag p.E837* LUSC 17 78282826 78282826 + Missense_Mutation SNP A A G TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 g.chr17:78282826A>G c.2510A>G c.(2509-2511)gAg>gGg p.E837G LUSC 17 78317711 78317711 + Missense_Mutation SNP A A G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr17:78317711A>G c.6238A>G c.(6238-6240)Atg>Gtg p.M2080V LUSC 17 78318559 78318559 + Missense_Mutation SNP G G C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr17:78318559G>C c.6424G>C c.(6424-6426)Gag>Cag p.E2142Q LUSC 17 78319717 78319717 + Missense_Mutation SNP C C T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr17:78319717C>T c.7582C>T c.(7582-7584)Cgg>Tgg p.R2528W LUSC 17 78320176 78320176 + Missense_Mutation SNP G G T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr17:78320176G>T c.8041G>T c.(8041-8043)Gtc>Ttc p.V2681F LUSC 17 78321522 78321522 + Silent SNP G G A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr17:78321522G>A c.9387G>A c.(9385-9387)gtG>gtA p.V3129V LUSC 17 78322000 78322000 + Missense_Mutation SNP C C T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr17:78322000C>T c.9865C>T c.(9865-9867)Cac>Tac p.H3289Y LUSC 17 78323667 78323667 + Missense_Mutation SNP A A G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr17:78323667A>G c.10049A>G c.(10048-10050)cAg>cGg p.Q3350R LUSC 17 78335564 78335564 + Missense_Mutation SNP A A C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr17:78335564A>C c.11231A>C c.(11230-11232)cAg>cCg p.Q3744P LUSC 17 78337588 78337588 + Silent SNP C C G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr17:78337588C>G c.11748C>G c.(11746-11748)gtC>gtG p.V3916V LUSC 17 78341763 78341763 + Missense_Mutation SNP T T G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 g.chr17:78341763T>G c.11975T>G c.(11974-11976)tTt>tGt p.F3992C LUSC 17 78348267 78348267 + Missense_Mutation SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr17:78348267C>A c.12952C>A c.(12952-12954)Cag>Aag p.Q4318K LUSC 17 78355400 78355400 + Silent SNP G G A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr17:78355400G>A c.13851G>A c.(13849-13851)caG>caA p.Q4617Q LUSC 17 78360162 78360162 + Silent SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr17:78360162C>T c.14652C>T c.(14650-14652)gtC>gtT p.V4884V LUSC 17 78363638 78363638 + Missense_Mutation SNP G G C TCGA-60-2711-01A-01D-1522-08 TCGA-60-2711-11A-01D-1522-08 g.chr17:78363638G>C c.15206G>C c.(15205-15207)aGa>aCa p.R5069T OV 17 78237543 78237543 + Silent SNP C C T TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 g.chr17:78237543C>T c.63C>T c.(61-63)tgC>tgT p.C21C OV 17 78265425 78265425 + Splice_Site SNP A A G TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 g.chr17:78265425A>G c.e8-1 OV 17 78317686 78317686 + Missense_Mutation SNP C C G TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 g.chr17:78317686C>G c.6213C>G c.(6211-6213)ttC>ttG p.F2071L OV 17 78319618 78319618 + Missense_Mutation SNP A A C TCGA-23-1031-01A-01W-0486-08 TCGA-23-1031-10A-01W-0486-08 g.chr17:78319618A>C c.7483A>C c.(7483-7485)Ata>Cta p.I2495L OV 17 78320139 78320139 + Missense_Mutation SNP G G T TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 g.chr17:78320139G>T c.8004G>T c.(8002-8004)aaG>aaT p.K2668N OV 17 78320334 78320334 + Silent SNP G G A TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 g.chr17:78320334G>A c.8199G>A c.(8197-8199)ctG>ctA p.L2733L OV 17 78320488 78320488 + Missense_Mutation SNP G G A TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 g.chr17:78320488G>A c.8353G>A c.(8353-8355)Gcc>Acc p.A2785T OV 17 78321089 78321089 + Frame_Shift_Del DEL G G - TCGA-24-1603-01A-01W-0551-08 TCGA-24-1603-10A-01W-0551-08 g.chr17:78321089delG c.8954delG c.(8953-8955)aggfs p.R2985fs OV 17 78321283 78321283 + Missense_Mutation SNP G G A TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 g.chr17:78321283G>A c.9148G>A c.(9148-9150)Gtg>Atg p.V3050M OV 17 78332203 78332203 + Missense_Mutation SNP T T A TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 g.chr17:78332203T>A c.10978T>A c.(10978-10980)Tgg>Agg p.W3660R OV 17 78349654 78349654 + Missense_Mutation SNP T T A TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 g.chr17:78349654T>A c.13169T>A c.(13168-13170)cTc>cAc p.L4390H OV 17 78350233 78350233 + Missense_Mutation SNP G G A TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 g.chr17:78350233G>A c.13318G>A c.(13318-13320)Gat>Aat p.D4440N OV 17 78363028 78363028 + Missense_Mutation SNP G G A TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 g.chr17:78363028G>A c.15056G>A c.(15055-15057)aGc>aAc p.S5019N OV 17 78363858 78363858 + Missense_Mutation SNP C C T TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 g.chr17:78363858C>T c.15332C>T c.(15331-15333)cCg>cTg p.P5111L PAAD 17 78317808 78317808 + Nonsense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 g.chr17:78317808C>A c.6335C>A c.(6334-6336)tCa>tAa p.S2112* PAAD 17 78319448 78319448 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78319448G>A c.7313G>A c.(7312-7314)cGt>cAt p.R2438H PAAD 17 78321227 78321227 + Missense_Mutation SNP G G A TCGA-FZ-5926-01A-11D-1609-08 TCGA-FZ-5926-11A-01D-1609-08 g.chr17:78321227G>A c.9092G>A c.(9091-9093)gGt>gAt p.G3031D PAAD 17 78321495 78321495 + Silent SNP C C T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 g.chr17:78321495C>T c.9360C>T c.(9358-9360)taC>taT p.Y3120Y PAAD 17 78324169 78324169 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr17:78324169G>A c.10157G>A c.(10156-10158)cGt>cAt p.R3386H PAAD 17 78335544 78335544 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78335544G>T c.11211G>T c.(11209-11211)aaG>aaT p.K3737N PAAD 17 78337097 78337097 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78337097C>T c.11551C>T c.(11551-11553)Ctg>Ttg p.L3851L PAAD 17 78337556 78337556 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 g.chr17:78337556G>A c.11716G>A c.(11716-11718)Ggg>Agg p.G3906R PAAD 17 78338344 78338344 + Silent SNP A A G TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr17:78338344A>G c.11862A>G c.(11860-11862)ttA>ttG p.L3954L PAAD 17 78343322 78343322 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 g.chr17:78343322C>T c.12176C>T c.(12175-12177)gCc>gTc p.A4059V PAAD 17 78346393 78346393 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78346393T>G c.12610T>G c.(12610-12612)Ttc>Gtc p.F4204V PAAD 17 78348322 78348322 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78348322C>T c.13007C>T c.(13006-13008)gCt>gTt p.A4336V PAAD 17 78348328 78348328 + Missense_Mutation SNP G G A TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr17:78348328G>A c.13013G>A c.(13012-13014)cGt>cAt p.R4338H PAAD 17 78351573 78351573 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr17:78351573G>A c.13522G>A c.(13522-13524)Ggc>Agc p.G4508S PAAD 17 78363064 78363064 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78363064C>T c.15092C>T c.(15091-15093)aCt>aTt p.T5031I PAAD 17 78363984 78363984 + Missense_Mutation SNP G G A TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chr17:78363984G>A c.15458G>A c.(15457-15459)cGc>cAc p.R5153H PCPG 17 78333905 78333905 + Missense_Mutation SNP A A T TCGA-W2-A7HE-01A-11D-A35I-08 TCGA-W2-A7HE-10C-01D-A35G-08 g.chr17:78333905A>T c.11099A>T c.(11098-11100)aAc>aTc p.N3700I PRAD 17 78265574 78265574 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:78265574C>T c.1419C>T c.(1417-1419)ggC>ggT p.G473G PRAD 17 78286955 78286955 + Silent SNP C C T TCGA-V1-A9O9-01A-11D-A41K-08 TCGA-V1-A9O9-10A-01D-A41N-08 g.chr17:78286955C>T c.2799C>T c.(2797-2799)gtC>gtT p.V933V PRAD 17 78293254 78293254 + Intron SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:78293254G>A PRAD 17 78314067 78314067 + Missense_Mutation SNP A A G TCGA-EJ-A65B-01A-12D-A30E-08 TCGA-EJ-A65B-10A-01D-A30H-08 g.chr17:78314067A>G c.5900A>G c.(5899-5901)tAc>tGc p.Y1967C PRAD 17 78319445 78319445 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:78319445G>A c.7310G>A c.(7309-7311)cGg>cAg p.R2437Q PRAD 17 78320610 78320610 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:78320610C>T c.8475C>T c.(8473-8475)tgC>tgT p.C2825C PRAD 17 78320681 78320681 + Missense_Mutation SNP C C T TCGA-FC-A4JI-01A-11D-A257-08 TCGA-FC-A4JI-10A-01D-A25A-08 g.chr17:78320681C>T c.8546C>T c.(8545-8547)gCg>gTg p.A2849V PRAD 17 78320969 78320969 + Missense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr17:78320969G>A c.8834G>A c.(8833-8835)cGc>cAc p.R2945H PRAD 17 78328255 78328255 + Missense_Mutation SNP G G A TCGA-J4-A67O-01A-11D-A30E-08 TCGA-J4-A67O-10A-01D-A30H-08 g.chr17:78328255G>A c.10741G>A c.(10741-10743)Gta>Ata p.V3581I PRAD 17 78337016 78337016 + Missense_Mutation SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 g.chr17:78337016C>T c.11470C>T c.(11470-11472)Cgt>Tgt p.R3824C PRAD 17 78341603 78341603 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:78341603G>A c.11927G>A c.(11926-11928)cGc>cAc p.R3976H PRAD 17 78349610 78349610 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:78349610G>A c.13125G>A c.(13123-13125)ctG>ctA p.L4375L PRAD 17 78357529 78357529 + Missense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr17:78357529G>A c.14123G>A c.(14122-14124)cGt>cAt p.R4708H PRAD 17 78360611 78360611 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:78360611G>A c.14842G>A c.(14842-14844)Gtg>Atg p.V4948M PRAD 17 78363706 78363706 + Missense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr17:78363706C>T c.15274C>T c.(15274-15276)Cgg>Tgg p.R5092W READ 17 78268655 78268655 + Missense_Mutation SNP C C G TCGA-AG-3602-01A-02W-0833-10 TCGA-AG-3602-10A-01W-0833-10 g.chr17:78268655C>G c.1608C>G c.(1606-1608)agC>agG p.S536R READ 17 78291028 78291028 + Missense_Mutation SNP A A G TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr17:78291028A>G c.2852A>G c.(2851-2853)cAt>cGt p.H951R READ 17 78317012 78317012 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78317012C>T c.6070C>T c.(6070-6072)Cga>Tga p.R2024* READ 17 78317684 78317684 + Missense_Mutation SNP T T C TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr17:78317684T>C c.6211T>C c.(6211-6213)Ttc>Ctc p.F2071L READ 17 78317685 78317685 + Missense_Mutation SNP T T C TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr17:78317685T>C c.6212T>C c.(6211-6213)tTc>tCc p.F2071S READ 17 78319745 78319745 + Missense_Mutation SNP G G A TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr17:78319745G>A c.7610G>A c.(7609-7611)cGt>cAt p.R2537H READ 17 78320137 78320137 + Missense_Mutation SNP A A G TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr17:78320137A>G c.8002A>G c.(8002-8004)Aag>Gag p.K2668E READ 17 78320610 78320610 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:78320610C>T c.8475C>T c.(8473-8475)tgC>tgT p.C2825C READ 17 78321010 78321010 + Missense_Mutation SNP C C G TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr17:78321010C>G c.8875C>G c.(8875-8877)Ctc>Gtc p.L2959V READ 17 78328244 78328244 + Missense_Mutation SNP C C T TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chr17:78328244C>T c.10730C>T c.(10729-10731)tCt>tTt p.S3577F READ 17 78337501 78337501 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78337501G>T c.11661G>T c.(11659-11661)aaG>aaT p.K3887N READ 17 78341582 78341582 + Missense_Mutation SNP G G T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:78341582G>T c.11906G>T c.(11905-11907)gGg>gTg p.G3969V READ 17 78350234 78350234 + Missense_Mutation SNP A A G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:78350234A>G c.13319A>G c.(13318-13320)gAt>gGt p.D4440G READ 17 78354648 78354648 + Missense_Mutation SNP C C T TCGA-AG-3893-01A-01W-1073-09 TCGA-AG-3893-10A-01W-1073-09 g.chr17:78354648C>T c.13658C>T c.(13657-13659)aCg>aTg p.T4553M READ 17 78356790 78356790 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78356790T>G c.13990T>G c.(13990-13992)Ttt>Gtt p.F4664V READ 17 78357688 78357688 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr17:78357688G>A c.14282G>A c.(14281-14283)gGc>gAc p.G4761D READ 17 78360567 78360567 + Frame_Shift_Del DEL T T - TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr17:78360567delT c.14798delT c.(14797-14799)attfs p.I4933fs READ 17 78367182 78367182 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78367182G>T c.15508G>T c.(15508-15510)Gaa>Taa p.E5170* SARC 17 78268762 78268762 + Missense_Mutation SNP A A T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 g.chr17:78268762A>T c.1715A>T c.(1714-1716)cAg>cTg p.Q572L SARC 17 78272139 78272139 + Silent SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 g.chr17:78272139G>A c.2031G>A c.(2029-2031)gtG>gtA p.V677V SARC 17 78282903 78282903 + Missense_Mutation SNP A A G TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 g.chr17:78282903A>G c.2587A>G c.(2587-2589)Aag>Gag p.K863E SARC 17 78313806 78313806 + Missense_Mutation SNP G G A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 g.chr17:78313806G>A c.5639G>A c.(5638-5640)cGc>cAc p.R1880H SARC 17 78319813 78319813 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr17:78319813C>T c.7678C>T c.(7678-7680)Cct>Tct p.P2560S SARC 17 78337533 78337533 + Missense_Mutation SNP C C T TCGA-MJ-A850-01A-11D-A351-09 TCGA-MJ-A850-10A-01D-A351-09 g.chr17:78337533C>T c.11693C>T c.(11692-11694)tCc>tTc p.S3898F SARC 17 78338308 78338308 + Silent SNP C C G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 g.chr17:78338308C>G c.11826C>G c.(11824-11826)ccC>ccG p.P3942P SARC 17 78349617 78349617 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr17:78349617G>A c.13132G>A c.(13132-13134)Gag>Aag p.E4378K SARC 17 78360610 78360610 + Silent SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 g.chr17:78360610C>T c.14841C>T c.(14839-14841)acC>acT p.T4947T SKCM 17 78247135 78247135 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr17:78247135C>T c.193C>T c.(193-195)Ccg>Tcg p.P65S SKCM 17 78247198 78247198 + Nonsense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr17:78247198C>T c.256C>T c.(256-258)Caa>Taa p.Q86* SKCM 17 78262068 78262068 + Missense_Mutation SNP A A T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr17:78262068A>T c.716A>T c.(715-717)cAg>cTg p.Q239L SKCM 17 78264460 78264460 + Missense_Mutation SNP A A T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:78264460A>T c.1204A>T c.(1204-1206)Atc>Ttc p.I402F SKCM 17 78264462 78264462 + Silent SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:78264462C>T c.1206C>T c.(1204-1206)atC>atT p.I402I SKCM 17 78268715 78268715 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:78268715C>T c.1668C>T c.(1666-1668)ttC>ttT p.F556F SKCM 17 78268774 78268774 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr17:78268774G>T c.1727G>T c.(1726-1728)tGg>tTg p.W576L SKCM 17 78272221 78272221 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr17:78272221G>T c.2113G>T c.(2113-2115)Gcc>Tcc p.A705S SKCM 17 78272244 78272244 + Nonsense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr17:78272244G>A c.2136G>A c.(2134-2136)tgG>tgA p.W712* SKCM 17 78280188 78280188 + Missense_Mutation SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr17:78280188C>T c.2347C>T c.(2347-2349)Cgt>Tgt p.R783C SKCM 17 78286854 78286854 + Missense_Mutation SNP C C A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:78286854C>A c.2698C>A c.(2698-2700)Caa>Aaa p.Q900K SKCM 17 78291019 78291019 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr17:78291019C>T c.2843C>T c.(2842-2844)cCc>cTc p.P948L SKCM 17 78293183 78293183 + Intron SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:78293183C>T SKCM 17 78318516 78318516 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr17:78318516C>T c.6381C>T c.(6379-6381)ttC>ttT p.F2127F SKCM 17 78318782 78318782 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr17:78318782G>T c.6647G>T c.(6646-6648)cGg>cTg p.R2216L SKCM 17 78318783 78318783 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr17:78318783G>A c.6648G>A c.(6646-6648)cgG>cgA p.R2216R SKCM 17 78319018 78319018 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:78319018C>T c.6883C>T c.(6883-6885)Cgg>Tgg p.R2295W SKCM 17 78319648 78319648 + Missense_Mutation SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr17:78319648C>T c.7513C>T c.(7513-7515)Cat>Tat p.H2505Y SKCM 17 78319813 78319813 + Missense_Mutation SNP C C T TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr17:78319813C>T c.7678C>T c.(7678-7680)Cct>Tct p.P2560S SKCM 17 78319950 78319950 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr17:78319950C>T c.7815C>T c.(7813-7815)atC>atT p.I2605I SKCM 17 78320047 78320047 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:78320047C>T c.7912C>T c.(7912-7914)Ctc>Ttc p.L2638F SKCM 17 78320345 78320345 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr17:78320345C>T c.8210C>T c.(8209-8211)cCt>cTt p.P2737L SKCM 17 78320598 78320598 + Silent SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr17:78320598C>T c.8463C>T c.(8461-8463)acC>acT p.T2821T SKCM 17 78321333 78321333 + Silent SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr17:78321333G>A c.9198G>A c.(9196-9198)ccG>ccA p.P3066P SKCM 17 78321567 78321567 + Silent SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr17:78321567C>T c.9432C>T c.(9430-9432)ccC>ccT p.P3144P SKCM 17 78321753 78321753 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr17:78321753C>T c.9618C>T c.(9616-9618)ttC>ttT p.F3206F SKCM 17 78321852 78321852 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:78321852C>T c.9717C>T c.(9715-9717)ccC>ccT p.P3239P SKCM 17 78321960 78321960 + Silent SNP G G T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr17:78321960G>T c.9825G>T c.(9823-9825)ctG>ctT p.L3275L SKCM 17 78321975 78321975 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr17:78321975G>A c.9840G>A c.(9838-9840)gcG>gcA p.A3280A SKCM 17 78323704 78323704 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr17:78323704C>T c.10086C>T c.(10084-10086)gtC>gtT p.V3362V SKCM 17 78325563 78325563 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr17:78325563C>T c.10263C>T c.(10261-10263)tcC>tcT p.S3421S SKCM 17 78326855 78326855 + Silent SNP T T C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr17:78326855T>C c.10419T>C c.(10417-10419)ccT>ccC p.P3473P SKCM 17 78327409 78327409 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr17:78327409G>A c.10521G>A c.(10519-10521)atG>atA p.M3507I SKCM 17 78327410 78327410 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr17:78327410G>A c.10522G>A c.(10522-10524)Gaa>Aaa p.E3508K SKCM 17 78327434 78327434 + Missense_Mutation SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr17:78327434G>A c.10546G>A c.(10546-10548)Gga>Aga p.G3516R SKCM 17 78336975 78336975 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:78336975C>T c.11429C>T c.(11428-11430)tCc>tTc p.S3810F SKCM 17 78336975 78336975 + Missense_Mutation SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr17:78336975C>T c.11429C>T c.(11428-11430)tCc>tTc p.S3810F SKCM 17 78337001 78337001 + Nonsense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:78337001C>T c.11455C>T c.(11455-11457)Cag>Tag p.Q3819* SKCM 17 78337016 78337016 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 g.chr17:78337016C>T c.11470C>T c.(11470-11472)Cgt>Tgt p.R3824C SKCM 17 78346396 78346396 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr17:78346396C>T c.12613C>T c.(12613-12615)Ctt>Ttt p.L4205F SKCM 17 78350124 78350124 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr17:78350124C>T c.13209C>T c.(13207-13209)ttC>ttT p.F4403F SKCM 17 78350260 78350260 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:78350260C>T c.13345C>T c.(13345-13347)Cat>Tat p.H4449Y SKCM 17 78357683 78357683 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:78357683A>C c.14277A>C c.(14275-14277)aaA>aaC p.K4759N SKCM 17 78357707 78357707 + Frame_Shift_Del DEL C C - TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr17:78357707delC c.14301delC c.(14299-14301)atcfs p.I4767fs SKCM 17 78358865 78358865 + Missense_Mutation SNP C C A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:78358865C>A c.14349C>A c.(14347-14349)ttC>ttA p.F4783L SKCM 17 78362453 78362453 + Silent SNP A A G TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:78362453A>G c.14964A>G c.(14962-14964)gaA>gaG p.E4988E SKCM 17 78363957 78363957 + Missense_Mutation SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr17:78363957C>T c.15431C>T c.(15430-15432)cCc>cTc p.P5144L SKCM 17 78363958 78363958 + Silent SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr17:78363958C>T c.15432C>T c.(15430-15432)ccC>ccT p.P5144P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 78282878 78282878 single base substitution C T exon_variant BLCA-CN 17 78282878 78282878 single base substitution C T synonymous_variant A854A 2562C>T BLCA-CN 17 78282878 78282878 single base substitution C T synonymous_variant A903A 2709C>T BLCA-CN 17 78318601 78318601 single base substitution C G missense_variant L2156V 6466C>G BLCA-CN 17 78318601 78318601 single base substitution C G missense_variant L2205V 6613C>G BLCA-CN 17 78318601 78318601 single base substitution C G missense_variant L229V 685C>G BLCA-CN 17 78327286 78327286 single base substitution C T intron_variant BLCA-CN 17 78327286 78327286 single base substitution C T upstream_gene_variant BLCA-CN 17 78332147 78332147 single base substitution C T exon_variant BLCA-CN 17 78332147 78332147 single base substitution C T missense_variant S1714L 5141C>T BLCA-CN 17 78332147 78332147 single base substitution C T missense_variant S3641L 10922C>T BLCA-CN 17 78332147 78332147 single base substitution C T missense_variant S3690L 11069C>T BLCA-CN 17 78350244 78350244 single base substitution G A downstream_gene_variant BLCA-CN 17 78350244 78350244 single base substitution G A exon_variant BLCA-CN 17 78350244 78350244 single base substitution G A synonymous_variant V2516V 7548G>A BLCA-CN 17 78350244 78350244 single base substitution G A synonymous_variant V4443V 13329G>A BLCA-CN 17 78350244 78350244 single base substitution G A synonymous_variant V4492V 13476G>A BLCA-CN 17 78350244 78350244 single base substitution G A upstream_gene_variant BLCA-CN 17 78363795 78363795 single base substitution C T downstream_gene_variant BLCA-CN 17 78363795 78363795 single base substitution C T intron_variant BLCA-US 17 78314035 78314035 single base substitution C T downstream_gene_variant BLCA-US 17 78314035 78314035 single base substitution C T synonymous_variant L1956L 5868C>T BLCA-US 17 78314035 78314035 single base substitution C T synonymous_variant L2005L 6015C>T BLCA-US 17 78314035 78314035 single base substitution C T synonymous_variant L29L 87C>T BLCA-US 17 78318559 78318559 single base substitution G A missense_variant E2142K 6424G>A BLCA-US 17 78318559 78318559 single base substitution G A missense_variant E215K 643G>A BLCA-US 17 78318559 78318559 single base substitution G A missense_variant E2191K 6571G>A BLCA-US 17 78318808 78318808 single base substitution C T stop_gained Q2225* 6673C>T BLCA-US 17 78318808 78318808 single base substitution C T stop_gained Q2274* 6820C>T BLCA-US 17 78318808 78318808 single base substitution C T stop_gained Q298* 892C>T BLCA-US 17 78319411 78319411 single base substitution A G missense_variant K2426E 7276A>G BLCA-US 17 78319411 78319411 single base substitution A G missense_variant K2475E 7423A>G BLCA-US 17 78319411 78319411 single base substitution A G missense_variant K499E 1495A>G BLCA-US 17 78320135 78320135 single base substitution C G missense_variant S2667C 8000C>G BLCA-US 17 78320135 78320135 single base substitution C G missense_variant S2716C 8147C>G BLCA-US 17 78320135 78320135 single base substitution C G missense_variant S740C 2219C>G BLCA-US 17 78321834 78321834 single base substitution C T synonymous_variant V1306V 3918C>T BLCA-US 17 78321834 78321834 single base substitution C T synonymous_variant V3233V 9699C>T BLCA-US 17 78321834 78321834 single base substitution C T synonymous_variant V3282V 9846C>T BLCA-US 17 78328356 78328356 single base substitution C G exon_variant BLCA-US 17 78328356 78328356 single base substitution C G synonymous_variant L1687L 5061C>G BLCA-US 17 78328356 78328356 single base substitution C G synonymous_variant L3614L 10842C>G BLCA-US 17 78328356 78328356 single base substitution C G synonymous_variant L3663L 10989C>G BLCA-US 17 78343329 78343329 single base substitution C T downstream_gene_variant BLCA-US 17 78343329 78343329 single base substitution C T exon_variant BLCA-US 17 78343329 78343329 single base substitution C T synonymous_variant F2134F 6402C>T BLCA-US 17 78343329 78343329 single base substitution C T synonymous_variant F4061F 12183C>T BLCA-US 17 78343329 78343329 single base substitution C T synonymous_variant F4110F 12330C>T BLCA-US 17 78343329 78343329 single base substitution C T upstream_gene_variant BLCA-US 17 78343399 78343399 single base substitution G A downstream_gene_variant BLCA-US 17 78343399 78343399 single base substitution G A exon_variant BLCA-US 17 78343399 78343399 single base substitution G A missense_variant E2158K 6472G>A BLCA-US 17 78343399 78343399 single base substitution G A missense_variant E4085K 12253G>A BLCA-US 17 78343399 78343399 single base substitution G A missense_variant E4134K 12400G>A BLCA-US 17 78343399 78343399 single base substitution G A upstream_gene_variant BLCA-US 17 78353431 78353431 single base substitution G A downstream_gene_variant BLCA-US 17 78353431 78353431 single base substitution G A exon_variant BLCA-US 17 78353431 78353431 single base substitution G A synonymous_variant P2592P 7776G>A BLCA-US 17 78353431 78353431 single base substitution G A synonymous_variant P4519P 13557G>A BLCA-US 17 78353431 78353431 single base substitution G A synonymous_variant P4568P 13704G>A BLCA-US 17 78353431 78353431 single base substitution G A upstream_gene_variant BLCA-US 17 78359383 78359383 single base substitution C G downstream_gene_variant BLCA-US 17 78359383 78359383 single base substitution C G exon_variant BLCA-US 17 78359383 78359383 single base substitution C G missense_variant S2907C 8720C>G BLCA-US 17 78359383 78359383 single base substitution C G missense_variant S4834C 14501C>G BLCA-US 17 78359383 78359383 single base substitution C G missense_variant S4883C 14648C>G BLCA-US 17 78359383 78359383 single base substitution C G upstream_gene_variant BOCA-FR 17 78298698 78298698 single base substitution C T downstream_gene_variant BOCA-FR 17 78298698 78298698 single base substitution C T intron_variant BOCA-FR 17 78334207 78334207 single base substitution C T downstream_gene_variant BOCA-FR 17 78334207 78334207 single base substitution C T intron_variant BOCA-FR 17 78334207 78334207 single base substitution C T upstream_gene_variant BRCA-EU 17 78230852 78230852 single base substitution G A upstream_gene_variant BRCA-EU 17 78231884 78231884 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 78231884 78231885 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 17 78233907 78233907 single base substitution G A upstream_gene_variant BRCA-EU 17 78234879 78234879 single base substitution G A intron_variant BRCA-EU 17 78234880 78234880 single base substitution C A intron_variant BRCA-EU 17 78235185 78235185 single base substitution C A intron_variant BRCA-EU 17 78236171 78236171 single base substitution A G intron_variant BRCA-EU 17 78236193 78236193 single base substitution A G intron_variant BRCA-EU 17 78237039 78237039 single base substitution G T intron_variant BRCA-EU 17 78238074 78238074 single base substitution C G intron_variant BRCA-EU 17 78238163 78238163 single base substitution G T intron_variant BRCA-EU 17 78239084 78239084 single base substitution G A intron_variant BRCA-EU 17 78239262 78239262 single base substitution G C intron_variant BRCA-EU 17 78239497 78239497 single base substitution G C intron_variant BRCA-EU 17 78239714 78239714 deletion of <=200bp A - intron_variant BRCA-EU 17 78240089 78240089 single base substitution A G intron_variant BRCA-EU 17 78240679 78240679 single base substitution G A intron_variant BRCA-EU 17 78240903 78240903 single base substitution C T intron_variant BRCA-EU 17 78241717 78241717 single base substitution C G intron_variant BRCA-EU 17 78242798 78242798 single base substitution C T intron_variant BRCA-EU 17 78243212 78243212 insertion of <=200bp - ATCTATCTATCTATCT intron_variant BRCA-EU 17 78243789 78243789 single base substitution C T intron_variant BRCA-EU 17 78244583 78244583 single base substitution G A intron_variant BRCA-EU 17 78244617 78244617 insertion of <=200bp - G intron_variant BRCA-EU 17 78244617 78244617 single base substitution G T intron_variant BRCA-EU 17 78245171 78245171 single base substitution G T intron_variant BRCA-EU 17 78246659 78246659 single base substitution C A intron_variant BRCA-EU 17 78247739 78247739 single base substitution A G intron_variant BRCA-EU 17 78249156 78249156 single base substitution T C intron_variant BRCA-EU 17 78250203 78250203 single base substitution T A intron_variant BRCA-EU 17 78250408 78250409 deletion of <=200bp AG - intron_variant BRCA-EU 17 78255659 78255659 insertion of <=200bp - T intron_variant BRCA-EU 17 78255703 78255703 single base substitution T C intron_variant BRCA-EU 17 78255889 78255889 single base substitution C G intron_variant BRCA-EU 17 78256536 78256536 single base substitution C G intron_variant BRCA-EU 17 78256694 78256694 single base substitution C A intron_variant BRCA-EU 17 78257601 78257601 single base substitution C T intron_variant BRCA-EU 17 78257601 78257601 single base substitution C T upstream_gene_variant BRCA-EU 17 78257791 78257791 single base substitution G T intron_variant BRCA-EU 17 78257791 78257791 single base substitution G T upstream_gene_variant BRCA-EU 17 78259952 78259952 single base substitution C A intron_variant BRCA-EU 17 78259952 78259952 single base substitution C A upstream_gene_variant BRCA-EU 17 78260444 78260444 single base substitution C T intron_variant BRCA-EU 17 78260444 78260444 single base substitution C T upstream_gene_variant BRCA-EU 17 78260485 78260485 single base substitution G T intron_variant BRCA-EU 17 78260485 78260485 single base substitution G T upstream_gene_variant BRCA-EU 17 78262731 78262731 single base substitution C T intron_variant BRCA-EU 17 78262731 78262731 single base substitution C T upstream_gene_variant BRCA-EU 17 78263218 78263218 single base substitution G A intron_variant BRCA-EU 17 78263218 78263218 single base substitution G A upstream_gene_variant BRCA-EU 17 78263654 78263654 single base substitution G C intron_variant BRCA-EU 17 78266355 78266355 single base substitution G A downstream_gene_variant BRCA-EU 17 78266355 78266355 single base substitution G A intron_variant BRCA-EU 17 78266355 78266355 single base substitution G A upstream_gene_variant BRCA-EU 17 78266558 78266558 single base substitution C T downstream_gene_variant BRCA-EU 17 78266558 78266558 single base substitution C T intron_variant BRCA-EU 17 78266558 78266558 single base substitution C T upstream_gene_variant BRCA-EU 17 78267439 78267439 single base substitution G T downstream_gene_variant BRCA-EU 17 78267439 78267439 single base substitution G T intron_variant BRCA-EU 17 78267439 78267439 single base substitution G T upstream_gene_variant BRCA-EU 17 78268081 78268081 single base substitution G A downstream_gene_variant BRCA-EU 17 78268081 78268081 single base substitution G A intron_variant BRCA-EU 17 78268081 78268081 single base substitution G A upstream_gene_variant BRCA-EU 17 78269144 78269144 single base substitution C G downstream_gene_variant BRCA-EU 17 78269144 78269144 single base substitution C G intron_variant BRCA-EU 17 78269144 78269144 single base substitution C G upstream_gene_variant BRCA-EU 17 78271704 78271704 single base substitution C G intron_variant BRCA-EU 17 78272839 78272839 single base substitution G T downstream_gene_variant BRCA-EU 17 78272839 78272839 single base substitution G T intron_variant BRCA-EU 17 78272885 78272885 single base substitution G T downstream_gene_variant BRCA-EU 17 78272885 78272885 single base substitution G T intron_variant BRCA-EU 17 78274895 78274895 single base substitution G A downstream_gene_variant BRCA-EU 17 78274895 78274895 single base substitution G A intron_variant BRCA-EU 17 78275171 78275171 single base substitution G A downstream_gene_variant BRCA-EU 17 78275171 78275171 single base substitution G A intron_variant BRCA-EU 17 78275573 78275573 single base substitution T G downstream_gene_variant BRCA-EU 17 78275573 78275573 single base substitution T G intron_variant BRCA-EU 17 78275598 78275598 single base substitution G A downstream_gene_variant BRCA-EU 17 78275598 78275598 single base substitution G A intron_variant BRCA-EU 17 78276879 78276879 single base substitution G T downstream_gene_variant BRCA-EU 17 78276879 78276879 single base substitution G T intron_variant BRCA-EU 17 78277020 78277020 single base substitution C T downstream_gene_variant BRCA-EU 17 78277020 78277020 single base substitution C T intron_variant BRCA-EU 17 78278769 78278769 single base substitution C A intron_variant BRCA-EU 17 78279151 78279151 single base substitution G A intron_variant BRCA-EU 17 78279442 78279442 single base substitution C T intron_variant BRCA-EU 17 78279583 78279583 single base substitution C A intron_variant BRCA-EU 17 78281163 78281163 single base substitution T C intron_variant BRCA-EU 17 78281379 78281379 single base substitution C A intron_variant BRCA-EU 17 78281472 78281472 single base substitution C T intron_variant BRCA-EU 17 78282454 78282454 single base substitution C T intron_variant BRCA-EU 17 78282498 78282498 single base substitution C T intron_variant BRCA-EU 17 78283957 78283957 single base substitution G A intron_variant BRCA-EU 17 78284649 78284649 single base substitution G T intron_variant BRCA-EU 17 78284882 78284882 single base substitution C T intron_variant BRCA-EU 17 78285308 78285308 single base substitution C G intron_variant BRCA-EU 17 78285332 78285332 single base substitution C G intron_variant BRCA-EU 17 78286157 78286157 single base substitution C G intron_variant BRCA-EU 17 78286284 78286284 single base substitution G C intron_variant BRCA-EU 17 78286816 78286816 single base substitution C T exon_variant BRCA-EU 17 78286816 78286816 single base substitution C T missense_variant S887F 2660C>T BRCA-EU 17 78286816 78286816 single base substitution C T missense_variant S936F 2807C>T BRCA-EU 17 78290742 78290742 single base substitution G A intron_variant BRCA-EU 17 78291619 78291619 single base substitution C T intron_variant BRCA-EU 17 78292440 78292440 single base substitution C A intron_variant BRCA-EU 17 78292624 78292624 single base substitution C T intron_variant BRCA-EU 17 78292908 78292908 single base substitution A T intron_variant BRCA-EU 17 78293587 78293587 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 78293587 78293587 single base substitution C G intron_variant BRCA-EU 17 78293604 78293604 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 78293604 78293604 single base substitution G A intron_variant BRCA-EU 17 78293809 78293809 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 78293809 78293809 single base substitution C T intron_variant BRCA-EU 17 78293817 78293817 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 78293817 78293817 single base substitution C G intron_variant BRCA-EU 17 78293854 78293854 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 78293854 78293854 single base substitution C G intron_variant BRCA-EU 17 78294199 78294199 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 78294199 78294199 single base substitution C T intron_variant BRCA-EU 17 78294230 78294230 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 78294230 78294230 single base substitution G A intron_variant BRCA-EU 17 78294311 78294311 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 78294311 78294311 single base substitution G C intron_variant BRCA-EU 17 78295379 78295379 single base substitution C G downstream_gene_variant BRCA-EU 17 78295379 78295379 single base substitution C G intron_variant BRCA-EU 17 78296386 78296386 single base substitution A T downstream_gene_variant BRCA-EU 17 78296386 78296386 single base substitution A T intron_variant BRCA-EU 17 78297147 78297147 single base substitution C G downstream_gene_variant BRCA-EU 17 78297147 78297147 single base substitution C G intron_variant BRCA-EU 17 78297504 78297504 single base substitution C G downstream_gene_variant BRCA-EU 17 78297504 78297504 single base substitution C G intron_variant BRCA-EU 17 78298310 78298310 single base substitution T G downstream_gene_variant BRCA-EU 17 78298310 78298310 single base substitution T G intron_variant BRCA-EU 17 78299384 78299384 insertion of <=200bp - C downstream_gene_variant BRCA-EU 17 78299384 78299384 insertion of <=200bp - C intron_variant BRCA-EU 17 78299517 78299517 single base substitution G T downstream_gene_variant BRCA-EU 17 78299517 78299517 single base substitution G T intron_variant BRCA-EU 17 78301880 78301880 single base substitution A G intron_variant BRCA-EU 17 78302243 78302243 single base substitution G A exon_variant BRCA-EU 17 78302243 78302243 single base substitution G A synonymous_variant L1161L 3483G>A BRCA-EU 17 78302243 78302243 single base substitution G A synonymous_variant L1210L 3630G>A BRCA-EU 17 78302928 78302928 single base substitution C G intron_variant BRCA-EU 17 78303833 78303833 single base substitution C T intron_variant BRCA-EU 17 78304465 78304465 single base substitution G T intron_variant BRCA-EU 17 78304476 78304476 single base substitution C G intron_variant BRCA-EU 17 78305074 78305074 single base substitution C A intron_variant BRCA-EU 17 78305969 78305969 single base substitution C G exon_variant BRCA-EU 17 78305969 78305969 single base substitution C G synonymous_variant L1227L 3681C>G BRCA-EU 17 78305969 78305969 single base substitution C G synonymous_variant L1276L 3828C>G BRCA-EU 17 78306471 78306471 single base substitution G A intron_variant BRCA-EU 17 78306471 78306471 single base substitution G A upstream_gene_variant BRCA-EU 17 78306786 78306786 single base substitution C T intron_variant BRCA-EU 17 78306786 78306786 single base substitution C T upstream_gene_variant BRCA-EU 17 78307376 78307376 single base substitution C G intron_variant BRCA-EU 17 78307376 78307376 single base substitution C G upstream_gene_variant BRCA-EU 17 78307505 78307505 single base substitution A C intron_variant BRCA-EU 17 78307505 78307505 single base substitution A C upstream_gene_variant BRCA-EU 17 78307507 78307507 single base substitution C A intron_variant BRCA-EU 17 78307507 78307507 single base substitution C A upstream_gene_variant BRCA-EU 17 78307508 78307508 single base substitution A C intron_variant BRCA-EU 17 78307508 78307508 single base substitution A C upstream_gene_variant BRCA-EU 17 78307894 78307894 single base substitution T G intron_variant BRCA-EU 17 78307894 78307894 single base substitution T G upstream_gene_variant BRCA-EU 17 78309745 78309745 single base substitution C G intron_variant BRCA-EU 17 78309745 78309745 single base substitution C G upstream_gene_variant BRCA-EU 17 78309760 78309760 single base substitution G C intron_variant BRCA-EU 17 78309760 78309760 single base substitution G C upstream_gene_variant BRCA-EU 17 78310431 78310431 single base substitution A G downstream_gene_variant BRCA-EU 17 78310431 78310431 single base substitution A G exon_variant BRCA-EU 17 78310431 78310431 single base substitution A G intron_variant BRCA-EU 17 78310431 78310431 single base substitution A G upstream_gene_variant BRCA-EU 17 78313395 78313395 single base substitution G A downstream_gene_variant BRCA-EU 17 78313395 78313395 single base substitution G A missense_variant R1743K 5228G>A BRCA-EU 17 78313395 78313395 single base substitution G A missense_variant R1792K 5375G>A BRCA-EU 17 78313395 78313395 single base substitution G A upstream_gene_variant BRCA-EU 17 78314086 78314086 single base substitution C T downstream_gene_variant BRCA-EU 17 78314086 78314086 single base substitution C T synonymous_variant T1973T 5919C>T BRCA-EU 17 78314086 78314086 single base substitution C T synonymous_variant T2022T 6066C>T BRCA-EU 17 78314086 78314086 single base substitution C T synonymous_variant T46T 138C>T BRCA-EU 17 78314972 78314972 single base substitution C A downstream_gene_variant BRCA-EU 17 78314972 78314972 single base substitution C A intron_variant BRCA-EU 17 78314978 78314978 single base substitution A G downstream_gene_variant BRCA-EU 17 78314978 78314978 single base substitution A G intron_variant BRCA-EU 17 78314984 78314984 single base substitution C G downstream_gene_variant BRCA-EU 17 78314984 78314984 single base substitution C G intron_variant BRCA-EU 17 78315193 78315193 single base substitution C A downstream_gene_variant BRCA-EU 17 78315193 78315193 single base substitution C A intron_variant BRCA-EU 17 78315303 78315303 single base substitution C T downstream_gene_variant BRCA-EU 17 78315303 78315303 single base substitution C T intron_variant BRCA-EU 17 78315716 78315716 single base substitution C A downstream_gene_variant BRCA-EU 17 78315716 78315716 single base substitution C A intron_variant BRCA-EU 17 78315745 78315745 single base substitution T C downstream_gene_variant BRCA-EU 17 78315745 78315745 single base substitution T C intron_variant BRCA-EU 17 78316330 78316330 single base substitution T A downstream_gene_variant BRCA-EU 17 78316330 78316330 single base substitution T A intron_variant BRCA-EU 17 78317084 78317084 single base substitution C G downstream_gene_variant BRCA-EU 17 78317084 78317084 single base substitution C G missense_variant Q121E 361C>G BRCA-EU 17 78317084 78317084 single base substitution C G missense_variant Q2048E 6142C>G BRCA-EU 17 78317084 78317084 single base substitution C G missense_variant Q2097E 6289C>G BRCA-EU 17 78317271 78317271 single base substitution G A downstream_gene_variant BRCA-EU 17 78317271 78317271 single base substitution G A intron_variant BRCA-EU 17 78319152 78319152 single base substitution G A synonymous_variant K2339K 7017G>A BRCA-EU 17 78319152 78319152 single base substitution G A synonymous_variant K2388K 7164G>A BRCA-EU 17 78319152 78319152 single base substitution G A synonymous_variant K412K 1236G>A BRCA-EU 17 78319208 78319208 single base substitution G A missense_variant R2358K 7073G>A BRCA-EU 17 78319208 78319208 single base substitution G A missense_variant R2407K 7220G>A BRCA-EU 17 78319208 78319208 single base substitution G A missense_variant R431K 1292G>A BRCA-EU 17 78320962 78320962 single base substitution T C missense_variant C1016R 3046T>C BRCA-EU 17 78320962 78320962 single base substitution T C missense_variant C2943R 8827T>C BRCA-EU 17 78320962 78320962 single base substitution T C missense_variant C2992R 8974T>C BRCA-EU 17 78321212 78321212 single base substitution C T missense_variant S1099F 3296C>T BRCA-EU 17 78321212 78321212 single base substitution C T missense_variant S3026F 9077C>T BRCA-EU 17 78321212 78321212 single base substitution C T missense_variant S3075F 9224C>T BRCA-EU 17 78322036 78322036 single base substitution C T stop_gained Q1374* 4120C>T BRCA-EU 17 78322036 78322036 single base substitution C T stop_gained Q3301* 9901C>T BRCA-EU 17 78322036 78322036 single base substitution C T stop_gained Q3350* 10048C>T BRCA-EU 17 78322150 78322150 single base substitution C T intron_variant BRCA-EU 17 78322492 78322492 single base substitution G A intron_variant BRCA-EU 17 78322601 78322601 single base substitution G C intron_variant BRCA-EU 17 78323768 78323768 single base substitution C T intron_variant BRCA-EU 17 78323768 78323768 single base substitution C T upstream_gene_variant BRCA-EU 17 78323862 78323862 single base substitution C A intron_variant BRCA-EU 17 78323862 78323862 single base substitution C A upstream_gene_variant BRCA-EU 17 78326378 78326378 single base substitution G C intron_variant BRCA-EU 17 78326378 78326378 single base substitution G C upstream_gene_variant BRCA-EU 17 78327447 78327447 single base substitution C G missense_variant S1593C 4778C>G BRCA-EU 17 78327447 78327447 single base substitution C G missense_variant S3520C 10559C>G BRCA-EU 17 78327447 78327447 single base substitution C G missense_variant S3569C 10706C>G BRCA-EU 17 78327447 78327447 single base substitution C G upstream_gene_variant BRCA-EU 17 78327615 78327615 single base substitution C G intron_variant BRCA-EU 17 78327615 78327615 single base substitution C G upstream_gene_variant BRCA-EU 17 78328116 78328116 single base substitution C G intron_variant BRCA-EU 17 78328116 78328116 single base substitution C G upstream_gene_variant BRCA-EU 17 78330174 78330174 single base substitution C G intron_variant BRCA-EU 17 78330380 78330380 single base substitution A G intron_variant BRCA-EU 17 78330404 78330404 single base substitution C T intron_variant BRCA-EU 17 78330482 78330482 single base substitution C T intron_variant BRCA-EU 17 78330835 78330835 single base substitution C T intron_variant BRCA-EU 17 78330994 78330994 single base substitution C T intron_variant BRCA-EU 17 78332490 78332490 single base substitution C T intron_variant BRCA-EU 17 78332490 78332490 single base substitution C T upstream_gene_variant BRCA-EU 17 78332772 78332772 deletion of <=200bp T - intron_variant BRCA-EU 17 78332772 78332772 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 78333121 78333121 single base substitution T C intron_variant BRCA-EU 17 78333121 78333121 single base substitution T C upstream_gene_variant BRCA-EU 17 78333629 78333629 single base substitution C T intron_variant BRCA-EU 17 78333629 78333629 single base substitution C T upstream_gene_variant BRCA-EU 17 78333642 78333644 deletion of <=200bp TTT - intron_variant BRCA-EU 17 78333642 78333644 deletion of <=200bp TTT - upstream_gene_variant BRCA-EU 17 78334125 78334125 single base substitution C T exon_variant BRCA-EU 17 78334125 78334125 single base substitution C T intron_variant BRCA-EU 17 78334125 78334125 single base substitution C T upstream_gene_variant BRCA-EU 17 78335317 78335317 single base substitution C G downstream_gene_variant BRCA-EU 17 78335317 78335317 single base substitution C G intron_variant BRCA-EU 17 78335317 78335317 single base substitution C G upstream_gene_variant BRCA-EU 17 78335563 78335563 single base substitution C T downstream_gene_variant BRCA-EU 17 78335563 78335563 single base substitution C T exon_variant BRCA-EU 17 78335563 78335563 single base substitution C T stop_gained Q1817* 5449C>T BRCA-EU 17 78335563 78335563 single base substitution C T stop_gained Q3744* 11230C>T BRCA-EU 17 78335563 78335563 single base substitution C T stop_gained Q3793* 11377C>T BRCA-EU 17 78335563 78335563 single base substitution C T upstream_gene_variant BRCA-EU 17 78335938 78335938 single base substitution C T downstream_gene_variant BRCA-EU 17 78335938 78335938 single base substitution C T intron_variant BRCA-EU 17 78335938 78335938 single base substitution C T upstream_gene_variant BRCA-EU 17 78336038 78336038 single base substitution C T downstream_gene_variant BRCA-EU 17 78336038 78336038 single base substitution C T intron_variant BRCA-EU 17 78336038 78336038 single base substitution C T upstream_gene_variant BRCA-EU 17 78337306 78337306 single base substitution C T downstream_gene_variant BRCA-EU 17 78337306 78337306 single base substitution C T exon_variant BRCA-EU 17 78337306 78337306 single base substitution C T intron_variant BRCA-EU 17 78337306 78337306 single base substitution C T upstream_gene_variant BRCA-EU 17 78337340 78337340 single base substitution C A downstream_gene_variant BRCA-EU 17 78337340 78337340 single base substitution C A exon_variant BRCA-EU 17 78337340 78337340 single base substitution C A intron_variant BRCA-EU 17 78337340 78337340 single base substitution C A upstream_gene_variant BRCA-EU 17 78338847 78338847 single base substitution A C downstream_gene_variant BRCA-EU 17 78338847 78338847 single base substitution A C exon_variant BRCA-EU 17 78338847 78338847 single base substitution A C intron_variant BRCA-EU 17 78340274 78340274 single base substitution C T downstream_gene_variant BRCA-EU 17 78340274 78340274 single base substitution C T intron_variant BRCA-EU 17 78341470 78341470 single base substitution G C downstream_gene_variant BRCA-EU 17 78341470 78341470 single base substitution G C intron_variant BRCA-EU 17 78341470 78341470 single base substitution G C upstream_gene_variant BRCA-EU 17 78342058 78342058 single base substitution C G downstream_gene_variant BRCA-EU 17 78342058 78342058 single base substitution C G intron_variant BRCA-EU 17 78342058 78342058 single base substitution C G upstream_gene_variant BRCA-EU 17 78342368 78342368 single base substitution G A downstream_gene_variant BRCA-EU 17 78342368 78342368 single base substitution G A intron_variant BRCA-EU 17 78342368 78342368 single base substitution G A upstream_gene_variant BRCA-EU 17 78343443 78343443 single base substitution A T downstream_gene_variant BRCA-EU 17 78343443 78343443 single base substitution A T exon_variant BRCA-EU 17 78343443 78343443 single base substitution A T missense_variant Q2172H 6516A>T BRCA-EU 17 78343443 78343443 single base substitution A T missense_variant Q4099H 12297A>T BRCA-EU 17 78343443 78343443 single base substitution A T missense_variant Q4148H 12444A>T BRCA-EU 17 78343443 78343443 single base substitution A T upstream_gene_variant BRCA-EU 17 78343985 78343985 single base substitution G A downstream_gene_variant BRCA-EU 17 78343985 78343985 single base substitution G A intron_variant BRCA-EU 17 78343985 78343985 single base substitution G A upstream_gene_variant BRCA-EU 17 78344982 78344982 single base substitution G T intron_variant BRCA-EU 17 78344982 78344982 single base substitution G T upstream_gene_variant BRCA-EU 17 78345610 78345610 deletion of <=200bp T - exon_variant BRCA-EU 17 78345610 78345610 deletion of <=200bp T - intron_variant BRCA-EU 17 78345610 78345610 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 78345690 78345690 single base substitution G C exon_variant BRCA-EU 17 78345690 78345690 single base substitution G C missense_variant D2221H 6661G>C BRCA-EU 17 78345690 78345690 single base substitution G C missense_variant D4148H 12442G>C BRCA-EU 17 78345690 78345690 single base substitution G C missense_variant D4197H 12589G>C BRCA-EU 17 78345690 78345690 single base substitution G C upstream_gene_variant BRCA-EU 17 78346595 78346595 single base substitution G A intron_variant BRCA-EU 17 78346595 78346595 single base substitution G A upstream_gene_variant BRCA-EU 17 78346851 78346851 single base substitution G C exon_variant BRCA-EU 17 78346851 78346851 single base substitution G C synonymous_variant R2349R 7047G>C BRCA-EU 17 78346851 78346851 single base substitution G C synonymous_variant R4276R 12828G>C BRCA-EU 17 78346851 78346851 single base substitution G C synonymous_variant R4325R 12975G>C BRCA-EU 17 78346851 78346851 single base substitution G C upstream_gene_variant BRCA-EU 17 78347234 78347234 single base substitution C T intron_variant BRCA-EU 17 78347234 78347234 single base substitution C T upstream_gene_variant BRCA-EU 17 78348489 78348489 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 78348489 78348489 single base substitution G A intron_variant BRCA-EU 17 78348489 78348489 single base substitution G A upstream_gene_variant BRCA-EU 17 78349224 78349224 single base substitution G A downstream_gene_variant BRCA-EU 17 78349224 78349224 single base substitution G A intron_variant BRCA-EU 17 78349224 78349224 single base substitution G A upstream_gene_variant BRCA-EU 17 78350098 78350098 single base substitution C G downstream_gene_variant BRCA-EU 17 78350098 78350098 single base substitution C G splice_region_variant BRCA-EU 17 78350098 78350098 single base substitution C G upstream_gene_variant BRCA-EU 17 78354147 78354147 single base substitution C T downstream_gene_variant BRCA-EU 17 78354147 78354147 single base substitution C T intron_variant BRCA-EU 17 78354147 78354147 single base substitution C T upstream_gene_variant BRCA-EU 17 78355735 78355735 single base substitution G A downstream_gene_variant BRCA-EU 17 78355735 78355735 single base substitution G A exon_variant BRCA-EU 17 78355735 78355735 single base substitution G A intron_variant BRCA-EU 17 78355735 78355735 single base substitution G A upstream_gene_variant BRCA-EU 17 78355888 78355888 single base substitution G A downstream_gene_variant BRCA-EU 17 78355888 78355888 single base substitution G A exon_variant BRCA-EU 17 78355888 78355888 single base substitution G A intron_variant BRCA-EU 17 78355888 78355888 single base substitution G A upstream_gene_variant BRCA-EU 17 78356832 78356832 single base substitution G T downstream_gene_variant BRCA-EU 17 78356832 78356832 single base substitution G T exon_variant BRCA-EU 17 78356832 78356832 single base substitution G T stop_gained E2751* 8251G>T BRCA-EU 17 78356832 78356832 single base substitution G T stop_gained E4678* 14032G>T BRCA-EU 17 78356832 78356832 single base substitution G T stop_gained E4727* 14179G>T BRCA-EU 17 78356832 78356832 single base substitution G T upstream_gene_variant BRCA-EU 17 78357320 78357320 single base substitution G A downstream_gene_variant BRCA-EU 17 78357320 78357320 single base substitution G A intron_variant BRCA-EU 17 78357320 78357320 single base substitution G A upstream_gene_variant BRCA-EU 17 78357617 78357619 deletion of <=200bp CTC - disruptive_inframe_deletion CS2810C BRCA-EU 17 78357617 78357619 deletion of <=200bp CTC - disruptive_inframe_deletion CS4737C BRCA-EU 17 78357617 78357619 deletion of <=200bp CTC - disruptive_inframe_deletion CS4786C BRCA-EU 17 78357617 78357619 deletion of <=200bp CTC - downstream_gene_variant BRCA-EU 17 78357617 78357619 deletion of <=200bp CTC - exon_variant BRCA-EU 17 78357617 78357619 deletion of <=200bp CTC - upstream_gene_variant BRCA-EU 17 78358683 78358683 single base substitution T G downstream_gene_variant BRCA-EU 17 78358683 78358683 single base substitution T G exon_variant BRCA-EU 17 78358683 78358683 single base substitution T G intron_variant BRCA-EU 17 78358683 78358683 single base substitution T G upstream_gene_variant BRCA-EU 17 78358712 78358712 single base substitution C G downstream_gene_variant BRCA-EU 17 78358712 78358712 single base substitution C G exon_variant BRCA-EU 17 78358712 78358712 single base substitution C G intron_variant BRCA-EU 17 78358712 78358712 single base substitution C G upstream_gene_variant BRCA-EU 17 78361483 78361483 single base substitution C G downstream_gene_variant BRCA-EU 17 78361483 78361483 single base substitution C G intron_variant BRCA-EU 17 78361483 78361483 single base substitution C G upstream_gene_variant BRCA-EU 17 78362013 78362013 single base substitution C T downstream_gene_variant BRCA-EU 17 78362013 78362013 single base substitution C T intron_variant BRCA-EU 17 78362013 78362013 single base substitution C T upstream_gene_variant BRCA-EU 17 78362282 78362282 single base substitution C T downstream_gene_variant BRCA-EU 17 78362282 78362282 single base substitution C T intron_variant BRCA-EU 17 78362282 78362282 single base substitution C T upstream_gene_variant BRCA-EU 17 78362497 78362497 single base substitution C T downstream_gene_variant BRCA-EU 17 78362497 78362497 single base substitution C T exon_variant BRCA-EU 17 78362497 78362497 single base substitution C T splice_region_variant BRCA-EU 17 78363245 78363245 single base substitution C G downstream_gene_variant BRCA-EU 17 78363245 78363245 single base substitution C G intron_variant BRCA-EU 17 78363589 78363589 single base substitution G A downstream_gene_variant BRCA-EU 17 78363589 78363589 single base substitution G A intron_variant BRCA-EU 17 78364543 78364543 single base substitution G C downstream_gene_variant BRCA-EU 17 78364543 78364543 single base substitution G C intron_variant BRCA-EU 17 78364872 78364872 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 78364872 78364872 insertion of <=200bp - A intron_variant BRCA-EU 17 78365305 78365305 single base substitution C G downstream_gene_variant BRCA-EU 17 78365305 78365305 single base substitution C G intron_variant BRCA-EU 17 78367310 78367310 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 78367310 78367310 single base substitution C A downstream_gene_variant BRCA-EU 17 78367310 78367310 single base substitution C A exon_variant BRCA-EU 17 78367669 78367669 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 78367669 78367669 single base substitution C G downstream_gene_variant BRCA-EU 17 78367669 78367669 single base substitution C G exon_variant BRCA-EU 17 78368532 78368532 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 78368532 78368532 single base substitution G A downstream_gene_variant BRCA-EU 17 78368532 78368532 single base substitution G A exon_variant BRCA-EU 17 78369143 78369143 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 78369143 78369143 single base substitution A G downstream_gene_variant BRCA-EU 17 78369143 78369143 single base substitution A G exon_variant BRCA-EU 17 78371883 78371883 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 78371883 78371883 single base substitution G C downstream_gene_variant BRCA-EU 17 78373430 78373430 single base substitution G A downstream_gene_variant BRCA-EU 17 78373523 78373523 single base substitution A G downstream_gene_variant BRCA-EU 17 78373611 78373611 single base substitution C G downstream_gene_variant BRCA-EU 17 78376066 78376066 single base substitution T C downstream_gene_variant BRCA-EU 17 78376849 78376849 single base substitution T A downstream_gene_variant BRCA-EU 17 78377205 78377205 single base substitution C G downstream_gene_variant BRCA-FR 17 78233907 78233907 single base substitution G A upstream_gene_variant BRCA-FR 17 78239084 78239084 single base substitution G A intron_variant BRCA-FR 17 78239262 78239262 single base substitution G C intron_variant BRCA-FR 17 78241717 78241717 single base substitution C G intron_variant BRCA-FR 17 78242782 78242782 single base substitution C T intron_variant BRCA-FR 17 78243789 78243789 single base substitution C T intron_variant BRCA-FR 17 78252234 78252234 single base substitution C G intron_variant BRCA-FR 17 78255875 78255875 single base substitution C T intron_variant BRCA-FR 17 78256536 78256536 single base substitution C G intron_variant BRCA-FR 17 78260444 78260444 single base substitution C T intron_variant BRCA-FR 17 78260444 78260444 single base substitution C T upstream_gene_variant BRCA-FR 17 78262731 78262731 single base substitution C T intron_variant BRCA-FR 17 78262731 78262731 single base substitution C T upstream_gene_variant BRCA-FR 17 78271704 78271704 single base substitution C G intron_variant BRCA-FR 17 78272291 78272291 single base substitution C T exon_variant BRCA-FR 17 78272291 78272291 single base substitution C T missense_variant S728L 2183C>T BRCA-FR 17 78272291 78272291 single base substitution C T missense_variant S777L 2330C>T BRCA-FR 17 78276879 78276879 single base substitution G T downstream_gene_variant BRCA-FR 17 78276879 78276879 single base substitution G T intron_variant BRCA-FR 17 78282454 78282454 single base substitution C T intron_variant BRCA-FR 17 78282498 78282498 single base substitution C T intron_variant BRCA-FR 17 78286157 78286157 single base substitution C G intron_variant BRCA-FR 17 78291619 78291619 single base substitution C T intron_variant BRCA-FR 17 78292440 78292440 single base substitution C A intron_variant BRCA-FR 17 78292624 78292624 single base substitution C T intron_variant BRCA-FR 17 78292908 78292908 single base substitution A T intron_variant BRCA-FR 17 78293587 78293587 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 78293587 78293587 single base substitution C G intron_variant BRCA-FR 17 78293714 78293714 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 78293714 78293714 single base substitution G A intron_variant BRCA-FR 17 78293809 78293809 single base substitution C T 3_prime_UTR_variant BRCA-FR 17 78293809 78293809 single base substitution C T intron_variant BRCA-FR 17 78293817 78293817 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 78293817 78293817 single base substitution C G intron_variant BRCA-FR 17 78293854 78293854 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 78293854 78293854 single base substitution C G intron_variant BRCA-FR 17 78294182 78294182 single base substitution C T 3_prime_UTR_variant BRCA-FR 17 78294182 78294182 single base substitution C T intron_variant BRCA-FR 17 78299517 78299517 single base substitution G T downstream_gene_variant BRCA-FR 17 78299517 78299517 single base substitution G T intron_variant BRCA-FR 17 78302243 78302243 single base substitution G A exon_variant BRCA-FR 17 78302243 78302243 single base substitution G A synonymous_variant L1161L 3483G>A BRCA-FR 17 78302243 78302243 single base substitution G A synonymous_variant L1210L 3630G>A BRCA-FR 17 78302928 78302928 single base substitution C G intron_variant BRCA-FR 17 78305969 78305969 single base substitution C G exon_variant BRCA-FR 17 78305969 78305969 single base substitution C G synonymous_variant L1227L 3681C>G BRCA-FR 17 78305969 78305969 single base substitution C G synonymous_variant L1276L 3828C>G BRCA-FR 17 78315193 78315193 single base substitution C A downstream_gene_variant BRCA-FR 17 78315193 78315193 single base substitution C A intron_variant BRCA-FR 17 78315303 78315303 single base substitution C T downstream_gene_variant BRCA-FR 17 78315303 78315303 single base substitution C T intron_variant BRCA-FR 17 78315716 78315716 single base substitution C A downstream_gene_variant BRCA-FR 17 78315716 78315716 single base substitution C A intron_variant BRCA-FR 17 78317084 78317084 single base substitution C G downstream_gene_variant BRCA-FR 17 78317084 78317084 single base substitution C G missense_variant Q121E 361C>G BRCA-FR 17 78317084 78317084 single base substitution C G missense_variant Q2048E 6142C>G BRCA-FR 17 78317084 78317084 single base substitution C G missense_variant Q2097E 6289C>G BRCA-FR 17 78322601 78322601 single base substitution G C intron_variant BRCA-FR 17 78323862 78323862 single base substitution C A intron_variant BRCA-FR 17 78323862 78323862 single base substitution C A upstream_gene_variant BRCA-FR 17 78327615 78327615 single base substitution C G intron_variant BRCA-FR 17 78327615 78327615 single base substitution C G upstream_gene_variant BRCA-FR 17 78328116 78328116 single base substitution C G intron_variant BRCA-FR 17 78328116 78328116 single base substitution C G upstream_gene_variant BRCA-FR 17 78330835 78330835 single base substitution C T intron_variant BRCA-FR 17 78333629 78333629 single base substitution C T intron_variant BRCA-FR 17 78333629 78333629 single base substitution C T upstream_gene_variant BRCA-FR 17 78334125 78334125 single base substitution C T exon_variant BRCA-FR 17 78334125 78334125 single base substitution C T intron_variant BRCA-FR 17 78334125 78334125 single base substitution C T upstream_gene_variant BRCA-FR 17 78348489 78348489 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 78348489 78348489 single base substitution G A intron_variant BRCA-FR 17 78348489 78348489 single base substitution G A upstream_gene_variant BRCA-FR 17 78357600 78357600 single base substitution A G downstream_gene_variant BRCA-FR 17 78357600 78357600 single base substitution A G exon_variant BRCA-FR 17 78357600 78357600 single base substitution A G missense_variant K2805E 8413A>G BRCA-FR 17 78357600 78357600 single base substitution A G missense_variant K4732E 14194A>G BRCA-FR 17 78357600 78357600 single base substitution A G missense_variant K4781E 14341A>G BRCA-FR 17 78357600 78357600 single base substitution A G upstream_gene_variant BRCA-FR 17 78359736 78359736 single base substitution G A downstream_gene_variant BRCA-FR 17 78359736 78359736 single base substitution G A intron_variant BRCA-FR 17 78359736 78359736 single base substitution G A upstream_gene_variant BRCA-FR 17 78359962 78359962 single base substitution G C downstream_gene_variant BRCA-FR 17 78359962 78359962 single base substitution G C intron_variant BRCA-FR 17 78359962 78359962 single base substitution G C upstream_gene_variant BRCA-FR 17 78360070 78360070 single base substitution G C downstream_gene_variant BRCA-FR 17 78360070 78360070 single base substitution G C exon_variant BRCA-FR 17 78360070 78360070 single base substitution G C missense_variant D2927H 8779G>C BRCA-FR 17 78360070 78360070 single base substitution G C missense_variant D4854H 14560G>C BRCA-FR 17 78360070 78360070 single base substitution G C missense_variant D4903H 14707G>C BRCA-FR 17 78360070 78360070 single base substitution G C upstream_gene_variant BRCA-FR 17 78361206 78361206 single base substitution G A downstream_gene_variant BRCA-FR 17 78361206 78361206 single base substitution G A intron_variant BRCA-FR 17 78361206 78361206 single base substitution G A upstream_gene_variant BRCA-FR 17 78361463 78361463 single base substitution G C downstream_gene_variant BRCA-FR 17 78361463 78361463 single base substitution G C intron_variant BRCA-FR 17 78361463 78361463 single base substitution G C upstream_gene_variant BRCA-FR 17 78363245 78363245 single base substitution C G downstream_gene_variant BRCA-FR 17 78363245 78363245 single base substitution C G intron_variant BRCA-FR 17 78371883 78371883 single base substitution G C 3_prime_UTR_variant BRCA-FR 17 78371883 78371883 single base substitution G C downstream_gene_variant BRCA-FR 17 78374638 78374638 single base substitution C T downstream_gene_variant BRCA-KR 17 78319682 78319682 single base substitution C G missense_variant S2516C 7547C>G BRCA-KR 17 78319682 78319682 single base substitution C G missense_variant S2565C 7694C>G BRCA-KR 17 78319682 78319682 single base substitution C G missense_variant S589C 1766C>G BRCA-UK 17 78230687 78230687 single base substitution C G upstream_gene_variant BRCA-UK 17 78242798 78242798 single base substitution C T intron_variant BRCA-UK 17 78262818 78262818 single base substitution C T intron_variant BRCA-UK 17 78262818 78262818 single base substitution C T upstream_gene_variant BRCA-UK 17 78270550 78270550 single base substitution C G downstream_gene_variant BRCA-UK 17 78270550 78270550 single base substitution C G intron_variant BRCA-UK 17 78270598 78270598 single base substitution C G downstream_gene_variant BRCA-UK 17 78270598 78270598 single base substitution C G intron_variant BRCA-UK 17 78277067 78277067 single base substitution C T downstream_gene_variant BRCA-UK 17 78277067 78277067 single base substitution C T intron_variant BRCA-UK 17 78290742 78290742 single base substitution G A intron_variant BRCA-UK 17 78293604 78293604 single base substitution G A 3_prime_UTR_variant BRCA-UK 17 78293604 78293604 single base substitution G A intron_variant BRCA-UK 17 78301922 78301922 single base substitution C G intron_variant BRCA-UK 17 78305879 78305879 single base substitution G C exon_variant BRCA-UK 17 78305879 78305879 single base substitution G C synonymous_variant V1197V 3591G>C BRCA-UK 17 78305879 78305879 single base substitution G C synonymous_variant V1246V 3738G>C BRCA-UK 17 78306096 78306096 single base substitution G C exon_variant BRCA-UK 17 78306096 78306096 single base substitution G C missense_variant E1270Q 3808G>C BRCA-UK 17 78306096 78306096 single base substitution G C missense_variant E1319Q 3955G>C BRCA-UK 17 78313395 78313395 single base substitution G A downstream_gene_variant BRCA-UK 17 78313395 78313395 single base substitution G A missense_variant R1743K 5228G>A BRCA-UK 17 78313395 78313395 single base substitution G A missense_variant R1792K 5375G>A BRCA-UK 17 78313395 78313395 single base substitution G A upstream_gene_variant BRCA-UK 17 78317271 78317271 single base substitution G A downstream_gene_variant BRCA-UK 17 78317271 78317271 single base substitution G A intron_variant BRCA-UK 17 78319476 78319476 single base substitution G A synonymous_variant K2447K 7341G>A BRCA-UK 17 78319476 78319476 single base substitution G A synonymous_variant K2496K 7488G>A BRCA-UK 17 78319476 78319476 single base substitution G A synonymous_variant K520K 1560G>A BRCA-UK 17 78321212 78321212 single base substitution C T missense_variant S1099F 3296C>T BRCA-UK 17 78321212 78321212 single base substitution C T missense_variant S3026F 9077C>T BRCA-UK 17 78321212 78321212 single base substitution C T missense_variant S3075F 9224C>T BRCA-UK 17 78336807 78336807 single base substitution C G downstream_gene_variant BRCA-UK 17 78336807 78336807 single base substitution C G intron_variant BRCA-UK 17 78336807 78336807 single base substitution C G upstream_gene_variant BRCA-UK 17 78338140 78338140 single base substitution C T downstream_gene_variant BRCA-UK 17 78338140 78338140 single base substitution C T intron_variant BRCA-UK 17 78338147 78338147 single base substitution C T downstream_gene_variant BRCA-UK 17 78338147 78338147 single base substitution C T intron_variant BRCA-UK 17 78338173 78338173 single base substitution C T downstream_gene_variant BRCA-UK 17 78338173 78338173 single base substitution C T intron_variant BRCA-UK 17 78339560 78339560 single base substitution C G downstream_gene_variant BRCA-UK 17 78339560 78339560 single base substitution C G intron_variant BRCA-UK 17 78355735 78355735 single base substitution G A downstream_gene_variant BRCA-UK 17 78355735 78355735 single base substitution G A exon_variant BRCA-UK 17 78355735 78355735 single base substitution G A intron_variant BRCA-UK 17 78355735 78355735 single base substitution G A upstream_gene_variant BRCA-UK 17 78355888 78355888 single base substitution G A downstream_gene_variant BRCA-UK 17 78355888 78355888 single base substitution G A exon_variant BRCA-UK 17 78355888 78355888 single base substitution G A intron_variant BRCA-UK 17 78355888 78355888 single base substitution G A upstream_gene_variant BRCA-UK 17 78356832 78356832 single base substitution G T downstream_gene_variant BRCA-UK 17 78356832 78356832 single base substitution G T exon_variant BRCA-UK 17 78356832 78356832 single base substitution G T stop_gained E2751* 8251G>T BRCA-UK 17 78356832 78356832 single base substitution G T stop_gained E4678* 14032G>T BRCA-UK 17 78356832 78356832 single base substitution G T stop_gained E4727* 14179G>T BRCA-UK 17 78356832 78356832 single base substitution G T upstream_gene_variant BRCA-UK 17 78357320 78357320 single base substitution G A downstream_gene_variant BRCA-UK 17 78357320 78357320 single base substitution G A intron_variant BRCA-UK 17 78357320 78357320 single base substitution G A upstream_gene_variant BRCA-UK 17 78358712 78358712 single base substitution C G downstream_gene_variant BRCA-UK 17 78358712 78358712 single base substitution C G exon_variant BRCA-UK 17 78358712 78358712 single base substitution C G intron_variant BRCA-UK 17 78358712 78358712 single base substitution C G upstream_gene_variant BRCA-US 17 78261666 78261666 single base substitution C T missense_variant S105L 314C>T BRCA-US 17 78261666 78261666 single base substitution C T missense_variant S154L 461C>T BRCA-US 17 78261666 78261666 single base substitution C T upstream_gene_variant BRCA-US 17 78263481 78263481 single base substitution C A exon_variant BRCA-US 17 78263481 78263481 single base substitution C A missense_variant D319E 957C>A BRCA-US 17 78263481 78263481 single base substitution C A missense_variant D368E 1104C>A BRCA-US 17 78263481 78263481 single base substitution C A upstream_gene_variant BRCA-US 17 78263574 78263574 single base substitution T G exon_variant BRCA-US 17 78263574 78263574 single base substitution T G synonymous_variant A350A 1050T>G BRCA-US 17 78263574 78263574 single base substitution T G synonymous_variant A399A 1197T>G BRCA-US 17 78264525 78264525 single base substitution C T splice_region_variant BRCA-US 17 78265433 78265433 single base substitution G T exon_variant BRCA-US 17 78265433 78265433 single base substitution G T missense_variant L426F 1278G>T BRCA-US 17 78265433 78265433 single base substitution G T missense_variant L475F 1425G>T BRCA-US 17 78265433 78265433 single base substitution G T upstream_gene_variant BRCA-US 17 78280205 78280205 single base substitution C T exon_variant BRCA-US 17 78280205 78280205 single base substitution C T synonymous_variant I788I 2364C>T BRCA-US 17 78280205 78280205 single base substitution C T synonymous_variant I837I 2511C>T BRCA-US 17 78291004 78291004 single base substitution T G exon_variant BRCA-US 17 78291004 78291004 single base substitution T G missense_variant V943G 2828T>G BRCA-US 17 78291004 78291004 single base substitution T G missense_variant V992G 2975T>G BRCA-US 17 78306165 78306165 single base substitution C T exon_variant BRCA-US 17 78306165 78306165 single base substitution C T synonymous_variant L1293L 3877C>T BRCA-US 17 78306165 78306165 single base substitution C T synonymous_variant L1342L 4024C>T BRCA-US 17 78307961 78307961 single base substitution C A exon_variant BRCA-US 17 78307961 78307961 single base substitution C A synonymous_variant L1400L 4200C>A BRCA-US 17 78307961 78307961 single base substitution C A synonymous_variant L1449L 4347C>A BRCA-US 17 78307961 78307961 single base substitution C A upstream_gene_variant BRCA-US 17 78307961 78307961 single base substitution C G exon_variant BRCA-US 17 78307961 78307961 single base substitution C G synonymous_variant L1400L 4200C>G BRCA-US 17 78307961 78307961 single base substitution C G synonymous_variant L1449L 4347C>G BRCA-US 17 78307961 78307961 single base substitution C G upstream_gene_variant BRCA-US 17 78311392 78311392 single base substitution T C downstream_gene_variant BRCA-US 17 78311392 78311392 single base substitution T C exon_variant BRCA-US 17 78311392 78311392 single base substitution T C missense_variant S1512P 4534T>C BRCA-US 17 78311392 78311392 single base substitution T C missense_variant S1561P 4681T>C BRCA-US 17 78311392 78311392 single base substitution T C upstream_gene_variant BRCA-US 17 78311419 78311419 single base substitution A G downstream_gene_variant BRCA-US 17 78311419 78311419 single base substitution A G exon_variant BRCA-US 17 78311419 78311419 single base substitution A G missense_variant T1521A 4561A>G BRCA-US 17 78311419 78311419 single base substitution A G missense_variant T1570A 4708A>G BRCA-US 17 78311419 78311419 single base substitution A G upstream_gene_variant BRCA-US 17 78313852 78313852 single base substitution G C downstream_gene_variant BRCA-US 17 78313852 78313852 single base substitution G C synonymous_variant L1895L 5685G>C BRCA-US 17 78313852 78313852 single base substitution G C synonymous_variant L1944L 5832G>C BRCA-US 17 78313852 78313852 single base substitution G C upstream_gene_variant BRCA-US 17 78318546 78318546 deletion of <=200bp G - frameshift_variant E210 BRCA-US 17 78318546 78318546 deletion of <=200bp G - frameshift_variant E2137 BRCA-US 17 78318546 78318546 deletion of <=200bp G - frameshift_variant E2186 BRCA-US 17 78318644 78318644 single base substitution A G missense_variant Y2170C 6509A>G BRCA-US 17 78318644 78318644 single base substitution A G missense_variant Y2219C 6656A>G BRCA-US 17 78318644 78318644 single base substitution A G missense_variant Y243C 728A>G BRCA-US 17 78318965 78318965 deletion of <=200bp A - frameshift_variant H2277 BRCA-US 17 78318965 78318965 deletion of <=200bp A - frameshift_variant H2326 BRCA-US 17 78318965 78318965 deletion of <=200bp A - frameshift_variant H350 BRCA-US 17 78318967 78318967 single base substitution A C missense_variant M2278L 6832A>C BRCA-US 17 78318967 78318967 single base substitution A C missense_variant M2327L 6979A>C BRCA-US 17 78318967 78318967 single base substitution A C missense_variant M351L 1051A>C BRCA-US 17 78320002 78320002 single base substitution C G missense_variant Q2623E 7867C>G BRCA-US 17 78320002 78320002 single base substitution C G missense_variant Q2672E 8014C>G BRCA-US 17 78320002 78320002 single base substitution C G missense_variant Q696E 2086C>G BRCA-US 17 78320424 78320424 single base substitution T C synonymous_variant I2763I 8289T>C BRCA-US 17 78320424 78320424 single base substitution T C synonymous_variant I2812I 8436T>C BRCA-US 17 78320424 78320424 single base substitution T C synonymous_variant I836I 2508T>C BRCA-US 17 78320640 78320640 single base substitution G A synonymous_variant Q2835Q 8505G>A BRCA-US 17 78320640 78320640 single base substitution G A synonymous_variant Q2884Q 8652G>A BRCA-US 17 78320640 78320640 single base substitution G A synonymous_variant Q908Q 2724G>A BRCA-US 17 78320721 78320721 single base substitution G A synonymous_variant P2862P 8586G>A BRCA-US 17 78320721 78320721 single base substitution G A synonymous_variant P2911P 8733G>A BRCA-US 17 78320721 78320721 single base substitution G A synonymous_variant P935P 2805G>A BRCA-US 17 78321232 78321232 single base substitution G C missense_variant E1106Q 3316G>C BRCA-US 17 78321232 78321232 single base substitution G C missense_variant E3033Q 9097G>C BRCA-US 17 78321232 78321232 single base substitution G C missense_variant E3082Q 9244G>C BRCA-US 17 78321542 78321542 single base substitution A C missense_variant H1209P 3626A>C BRCA-US 17 78321542 78321542 single base substitution A C missense_variant H3136P 9407A>C BRCA-US 17 78321542 78321542 single base substitution A C missense_variant H3185P 9554A>C BRCA-US 17 78321589 78321589 single base substitution G T stop_gained E1225* 3673G>T BRCA-US 17 78321589 78321589 single base substitution G T stop_gained E3152* 9454G>T BRCA-US 17 78321589 78321589 single base substitution G T stop_gained E3201* 9601G>T BRCA-US 17 78321794 78321794 single base substitution G A missense_variant G1293D 3878G>A BRCA-US 17 78321794 78321794 single base substitution G A missense_variant G3220D 9659G>A BRCA-US 17 78321794 78321794 single base substitution G A missense_variant G3269D 9806G>A BRCA-US 17 78321847 78321847 single base substitution G A missense_variant G1311S 3931G>A BRCA-US 17 78321847 78321847 single base substitution G A missense_variant G3238S 9712G>A BRCA-US 17 78321847 78321847 single base substitution G A missense_variant G3287S 9859G>A BRCA-US 17 78325568 78325568 single base substitution T G missense_variant V1496G 4487T>G BRCA-US 17 78325568 78325568 single base substitution T G missense_variant V3423G 10268T>G BRCA-US 17 78325568 78325568 single base substitution T G missense_variant V3472G 10415T>G BRCA-US 17 78325568 78325568 single base substitution T G upstream_gene_variant BRCA-US 17 78326788 78326788 deletion of <=200bp T - frameshift_variant M1524 BRCA-US 17 78326788 78326788 deletion of <=200bp T - frameshift_variant M3451 BRCA-US 17 78326788 78326788 deletion of <=200bp T - frameshift_variant M3500 BRCA-US 17 78326788 78326788 deletion of <=200bp T - upstream_gene_variant BRCA-US 17 78326791 78326791 insertion of <=200bp - A frameshift_variant V1525D? BRCA-US 17 78326791 78326791 insertion of <=200bp - A frameshift_variant V3452D? BRCA-US 17 78326791 78326791 insertion of <=200bp - A frameshift_variant V3501D? BRCA-US 17 78326791 78326791 insertion of <=200bp - A upstream_gene_variant BRCA-US 17 78332203 78332203 single base substitution T C exon_variant BRCA-US 17 78332203 78332203 single base substitution T C missense_variant W1733R 5197T>C BRCA-US 17 78332203 78332203 single base substitution T C missense_variant W3660R 10978T>C BRCA-US 17 78332203 78332203 single base substitution T C missense_variant W3709R 11125T>C BRCA-US 17 78332203 78332203 single base substitution T C upstream_gene_variant BRCA-US 17 78346457 78346457 single base substitution A C exon_variant BRCA-US 17 78346457 78346457 single base substitution A C missense_variant Y2298S 6893A>C BRCA-US 17 78346457 78346457 single base substitution A C missense_variant Y4225S 12674A>C BRCA-US 17 78346457 78346457 single base substitution A C missense_variant Y4274S 12821A>C BRCA-US 17 78346457 78346457 single base substitution A C upstream_gene_variant BRCA-US 17 78346803 78346803 single base substitution G A exon_variant BRCA-US 17 78346803 78346803 single base substitution G A synonymous_variant L2333L 6999G>A BRCA-US 17 78346803 78346803 single base substitution G A synonymous_variant L4260L 12780G>A BRCA-US 17 78346803 78346803 single base substitution G A synonymous_variant L4309L 12927G>A BRCA-US 17 78346803 78346803 single base substitution G A upstream_gene_variant BRCA-US 17 78348337 78348337 insertion of <=200bp - AG exon_variant BRCA-US 17 78348337 78348337 insertion of <=200bp - AG frameshift_variant V2414E? BRCA-US 17 78348337 78348337 insertion of <=200bp - AG frameshift_variant V4341E? BRCA-US 17 78348337 78348337 insertion of <=200bp - AG frameshift_variant V4390E? BRCA-US 17 78348337 78348337 insertion of <=200bp - AG frameshift_variant V59E? BRCA-US 17 78348337 78348337 insertion of <=200bp - AG upstream_gene_variant BRCA-US 17 78350117 78350117 single base substitution G A downstream_gene_variant BRCA-US 17 78350117 78350117 single base substitution G A exon_variant BRCA-US 17 78350117 78350117 single base substitution G A missense_variant S2474N 7421G>A BRCA-US 17 78350117 78350117 single base substitution G A missense_variant S4401N 13202G>A BRCA-US 17 78350117 78350117 single base substitution G A missense_variant S4450N 13349G>A BRCA-US 17 78350117 78350117 single base substitution G A upstream_gene_variant BRCA-US 17 78351596 78351596 single base substitution G A downstream_gene_variant BRCA-US 17 78351596 78351596 single base substitution G A splice_region_variant BRCA-US 17 78351596 78351596 single base substitution G A upstream_gene_variant BRCA-US 17 78358925 78358925 single base substitution A G downstream_gene_variant BRCA-US 17 78358925 78358925 single base substitution A G exon_variant BRCA-US 17 78358925 78358925 single base substitution A G synonymous_variant Q2876Q 8628A>G BRCA-US 17 78358925 78358925 single base substitution A G synonymous_variant Q4803Q 14409A>G BRCA-US 17 78358925 78358925 single base substitution A G synonymous_variant Q4852Q 14556A>G BRCA-US 17 78358925 78358925 single base substitution A G upstream_gene_variant BRCA-US 17 78360175 78360175 single base substitution C T downstream_gene_variant BRCA-US 17 78360175 78360175 single base substitution C T exon_variant BRCA-US 17 78360175 78360175 single base substitution C T missense_variant R2962C 8884C>T BRCA-US 17 78360175 78360175 single base substitution C T missense_variant R4889C 14665C>T BRCA-US 17 78360175 78360175 single base substitution C T missense_variant R4938C 14812C>T BRCA-US 17 78360175 78360175 single base substitution C T upstream_gene_variant BRCA-US 17 78362440 78362440 single base substitution A G downstream_gene_variant BRCA-US 17 78362440 78362440 single base substitution A G exon_variant BRCA-US 17 78362440 78362440 single base substitution A G missense_variant D3057G 9170A>G BRCA-US 17 78362440 78362440 single base substitution A G missense_variant D4984G 14951A>G BRCA-US 17 78362440 78362440 single base substitution A G missense_variant D5033G 15098A>G BRCA-US 17 78363039 78363039 single base substitution G A downstream_gene_variant BRCA-US 17 78363039 78363039 single base substitution G A exon_variant BRCA-US 17 78363039 78363039 single base substitution G A missense_variant E3096K 9286G>A BRCA-US 17 78363039 78363039 single base substitution G A missense_variant E5023K 15067G>A BRCA-US 17 78363039 78363039 single base substitution G A missense_variant E5072K 15214G>A BTCA-JP 17 78263408 78263408 single base substitution G A intron_variant BTCA-JP 17 78263408 78263408 single base substitution G A upstream_gene_variant BTCA-JP 17 78264249 78264249 single base substitution T C intron_variant BTCA-JP 17 78269656 78269656 single base substitution A G downstream_gene_variant BTCA-JP 17 78269656 78269656 single base substitution A G intron_variant BTCA-JP 17 78286998 78286998 single base substitution G C intron_variant BTCA-JP 17 78301627 78301627 single base substitution A G exon_variant BTCA-JP 17 78301627 78301627 single base substitution A G missense_variant K1069E 3205A>G BTCA-JP 17 78301627 78301627 single base substitution A G missense_variant K1118E 3352A>G BTCA-JP 17 78301809 78301809 single base substitution G A intron_variant BTCA-JP 17 78308093 78308093 single base substitution C T intron_variant BTCA-JP 17 78308093 78308093 single base substitution C T upstream_gene_variant BTCA-JP 17 78314019 78314019 deletion of <=200bp C - downstream_gene_variant BTCA-JP 17 78314019 78314019 deletion of <=200bp C - frameshift_variant T1951 BTCA-JP 17 78314019 78314019 deletion of <=200bp C - frameshift_variant T2000 BTCA-JP 17 78314019 78314019 deletion of <=200bp C - frameshift_variant T24 BTCA-JP 17 78320162 78320162 single base substitution C A missense_variant T2676N 8027C>A BTCA-JP 17 78320162 78320162 single base substitution C A missense_variant T2725N 8174C>A BTCA-JP 17 78320162 78320162 single base substitution C A missense_variant T749N 2246C>A BTCA-JP 17 78320186 78320186 single base substitution C T missense_variant S2684L 8051C>T BTCA-JP 17 78320186 78320186 single base substitution C T missense_variant S2733L 8198C>T BTCA-JP 17 78320186 78320186 single base substitution C T missense_variant S757L 2270C>T BTCA-JP 17 78320279 78320279 single base substitution A G missense_variant Y2715C 8144A>G BTCA-JP 17 78320279 78320279 single base substitution A G missense_variant Y2764C 8291A>G BTCA-JP 17 78320279 78320279 single base substitution A G missense_variant Y788C 2363A>G BTCA-JP 17 78320337 78320337 single base substitution C T synonymous_variant D2734D 8202C>T BTCA-JP 17 78320337 78320337 single base substitution C T synonymous_variant D2783D 8349C>T BTCA-JP 17 78320337 78320337 single base substitution C T synonymous_variant D807D 2421C>T BTCA-JP 17 78321148 78321148 single base substitution G A missense_variant E1078K 3232G>A BTCA-JP 17 78321148 78321148 single base substitution G A missense_variant E3005K 9013G>A BTCA-JP 17 78321148 78321148 single base substitution G A missense_variant E3054K 9160G>A BTCA-JP 17 78321546 78321546 single base substitution C T synonymous_variant R1210R 3630C>T BTCA-JP 17 78321546 78321546 single base substitution C T synonymous_variant R3137R 9411C>T BTCA-JP 17 78321546 78321546 single base substitution C T synonymous_variant R3186R 9558C>T BTCA-JP 17 78321789 78321789 single base substitution C T synonymous_variant F1291F 3873C>T BTCA-JP 17 78321789 78321789 single base substitution C T synonymous_variant F3218F 9654C>T BTCA-JP 17 78321789 78321789 single base substitution C T synonymous_variant F3267F 9801C>T BTCA-JP 17 78323783 78323783 single base substitution C T intron_variant BTCA-JP 17 78323783 78323783 single base substitution C T upstream_gene_variant BTCA-JP 17 78324261 78324261 single base substitution A G intron_variant BTCA-JP 17 78324261 78324261 single base substitution A G upstream_gene_variant BTCA-JP 17 78325465 78325465 deletion of <=200bp T - intron_variant BTCA-JP 17 78325465 78325465 deletion of <=200bp T - upstream_gene_variant BTCA-JP 17 78325506 78325506 deletion of <=200bp C - frameshift_variant I1475 BTCA-JP 17 78325506 78325506 deletion of <=200bp C - frameshift_variant I3402 BTCA-JP 17 78325506 78325506 deletion of <=200bp C - frameshift_variant I3451 BTCA-JP 17 78325506 78325506 deletion of <=200bp C - upstream_gene_variant BTCA-JP 17 78326480 78326480 single base substitution C T intron_variant BTCA-JP 17 78326480 78326480 single base substitution C T upstream_gene_variant BTCA-JP 17 78326537 78326537 single base substitution C T intron_variant BTCA-JP 17 78326537 78326537 single base substitution C T upstream_gene_variant BTCA-JP 17 78327541 78327541 single base substitution A G intron_variant BTCA-JP 17 78327541 78327541 single base substitution A G upstream_gene_variant BTCA-JP 17 78328299 78328299 single base substitution G C exon_variant BTCA-JP 17 78328299 78328299 single base substitution G C missense_variant E1668D 5004G>C BTCA-JP 17 78328299 78328299 single base substitution G C missense_variant E3595D 10785G>C BTCA-JP 17 78328299 78328299 single base substitution G C missense_variant E3644D 10932G>C BTCA-JP 17 78328400 78328400 single base substitution G C intron_variant BTCA-JP 17 78332346 78332346 single base substitution C A intron_variant BTCA-JP 17 78332346 78332346 single base substitution C A upstream_gene_variant BTCA-JP 17 78333708 78333708 single base substitution C G intron_variant BTCA-JP 17 78333708 78333708 single base substitution C G upstream_gene_variant BTCA-JP 17 78338401 78338401 single base substitution C T downstream_gene_variant BTCA-JP 17 78338401 78338401 single base substitution C T intron_variant BTCA-JP 17 78338471 78338471 single base substitution A G downstream_gene_variant BTCA-JP 17 78338471 78338471 single base substitution A G intron_variant BTCA-JP 17 78346901 78346901 single base substitution A C exon_variant BTCA-JP 17 78346901 78346901 single base substitution A C missense_variant Q11P 32A>C BTCA-JP 17 78346901 78346901 single base substitution A C missense_variant Q2366P 7097A>C BTCA-JP 17 78346901 78346901 single base substitution A C missense_variant Q4293P 12878A>C BTCA-JP 17 78346901 78346901 single base substitution A C missense_variant Q4342P 13025A>C BTCA-JP 17 78346901 78346901 single base substitution A C upstream_gene_variant BTCA-JP 17 78354709 78354709 single base substitution G C downstream_gene_variant BTCA-JP 17 78354709 78354709 single base substitution G C exon_variant BTCA-JP 17 78354709 78354709 single base substitution G C synonymous_variant G2646G 7938G>C BTCA-JP 17 78354709 78354709 single base substitution G C synonymous_variant G4573G 13719G>C BTCA-JP 17 78354709 78354709 single base substitution G C synonymous_variant G4622G 13866G>C BTCA-JP 17 78354709 78354709 single base substitution G C upstream_gene_variant BTCA-JP 17 78355591 78355591 single base substitution C A downstream_gene_variant BTCA-JP 17 78355591 78355591 single base substitution C A exon_variant BTCA-JP 17 78355591 78355591 single base substitution C A intron_variant BTCA-JP 17 78355591 78355591 single base substitution C A upstream_gene_variant BTCA-JP 17 78360140 78360140 single base substitution G A downstream_gene_variant BTCA-JP 17 78360140 78360140 single base substitution G A exon_variant BTCA-JP 17 78360140 78360140 single base substitution G A missense_variant G2950D 8849G>A BTCA-JP 17 78360140 78360140 single base substitution G A missense_variant G4877D 14630G>A BTCA-JP 17 78360140 78360140 single base substitution G A missense_variant G4926D 14777G>A BTCA-JP 17 78360140 78360140 single base substitution G A upstream_gene_variant BTCA-JP 17 78363030 78363030 single base substitution G A downstream_gene_variant BTCA-JP 17 78363030 78363030 single base substitution G A exon_variant BTCA-JP 17 78363030 78363030 single base substitution G A missense_variant D3093N 9277G>A BTCA-JP 17 78363030 78363030 single base substitution G A missense_variant D5020N 15058G>A BTCA-JP 17 78363030 78363030 single base substitution G A missense_variant D5069N 15205G>A CESC-US 17 78261737 78261737 single base substitution C T stop_gained Q129* 385C>T CESC-US 17 78261737 78261737 single base substitution C T stop_gained Q178* 532C>T CESC-US 17 78261737 78261737 single base substitution C T upstream_gene_variant CESC-US 17 78262101 78262101 single base substitution G T exon_variant CESC-US 17 78262101 78262101 single base substitution G T missense_variant S250I 749G>T CESC-US 17 78262101 78262101 single base substitution G T missense_variant S299I 896G>T CESC-US 17 78262101 78262101 single base substitution G T upstream_gene_variant CESC-US 17 78269550 78269550 single base substitution C G downstream_gene_variant CESC-US 17 78269550 78269550 single base substitution C G exon_variant CESC-US 17 78269550 78269550 single base substitution C G stop_gained S650* 1949C>G CESC-US 17 78269550 78269550 single base substitution C G stop_gained S699* 2096C>G CESC-US 17 78269596 78269596 single base substitution C T downstream_gene_variant CESC-US 17 78269596 78269596 single base substitution C T exon_variant CESC-US 17 78269596 78269596 single base substitution C T synonymous_variant I665I 1995C>T CESC-US 17 78269596 78269596 single base substitution C T synonymous_variant I714I 2142C>T CESC-US 17 78280985 78280985 single base substitution G C exon_variant CESC-US 17 78280985 78280985 single base substitution G C missense_variant D829H 2485G>C CESC-US 17 78280985 78280985 single base substitution G C missense_variant D878H 2632G>C CESC-US 17 78317800 78317800 single base substitution G A downstream_gene_variant CESC-US 17 78317800 78317800 single base substitution G A synonymous_variant R182R 546G>A CESC-US 17 78317800 78317800 single base substitution G A synonymous_variant R2109R 6327G>A CESC-US 17 78317800 78317800 single base substitution G A synonymous_variant R2158R 6474G>A CESC-US 17 78318498 78318498 single base substitution C T synonymous_variant F194F 582C>T CESC-US 17 78318498 78318498 single base substitution C T synonymous_variant F2121F 6363C>T CESC-US 17 78318498 78318498 single base substitution C T synonymous_variant F2170F 6510C>T CESC-US 17 78318661 78318661 single base substitution C G missense_variant Q2176E 6526C>G CESC-US 17 78318661 78318661 single base substitution C G missense_variant Q2225E 6673C>G CESC-US 17 78318661 78318661 single base substitution C G missense_variant Q249E 745C>G CESC-US 17 78318879 78318879 single base substitution G C missense_variant K2248N 6744G>C CESC-US 17 78318879 78318879 single base substitution G C missense_variant K2297N 6891G>C CESC-US 17 78318879 78318879 single base substitution G C missense_variant K321N 963G>C CESC-US 17 78319163 78319163 single base substitution G C missense_variant R2343T 7028G>C CESC-US 17 78319163 78319163 single base substitution G C missense_variant R2392T 7175G>C CESC-US 17 78319163 78319163 single base substitution G C missense_variant R416T 1247G>C CESC-US 17 78320002 78320002 single base substitution C G missense_variant Q2623E 7867C>G CESC-US 17 78320002 78320002 single base substitution C G missense_variant Q2672E 8014C>G CESC-US 17 78320002 78320002 single base substitution C G missense_variant Q696E 2086C>G CESC-US 17 78320023 78320023 single base substitution G A missense_variant E2630K 7888G>A CESC-US 17 78320023 78320023 single base substitution G A missense_variant E2679K 8035G>A CESC-US 17 78320023 78320023 single base substitution G A missense_variant E703K 2107G>A CESC-US 17 78321462 78321462 single base substitution C T synonymous_variant Y1182Y 3546C>T CESC-US 17 78321462 78321462 single base substitution C T synonymous_variant Y3109Y 9327C>T CESC-US 17 78321462 78321462 single base substitution C T synonymous_variant Y3158Y 9474C>T CESC-US 17 78326837 78326837 single base substitution C T synonymous_variant F1540F 4620C>T CESC-US 17 78326837 78326837 single base substitution C T synonymous_variant F3467F 10401C>T CESC-US 17 78326837 78326837 single base substitution C T synonymous_variant F3516F 10548C>T CESC-US 17 78326837 78326837 single base substitution C T upstream_gene_variant CESC-US 17 78328272 78328272 single base substitution C T exon_variant CESC-US 17 78328272 78328272 single base substitution C T synonymous_variant L1659L 4977C>T CESC-US 17 78328272 78328272 single base substitution C T synonymous_variant L3586L 10758C>T CESC-US 17 78328272 78328272 single base substitution C T synonymous_variant L3635L 10905C>T CESC-US 17 78328309 78328309 single base substitution C T exon_variant CESC-US 17 78328309 78328309 single base substitution C T missense_variant H1672Y 5014C>T CESC-US 17 78328309 78328309 single base substitution C T missense_variant H3599Y 10795C>T CESC-US 17 78328309 78328309 single base substitution C T missense_variant H3648Y 10942C>T CESC-US 17 78332128 78332128 single base substitution C T exon_variant CESC-US 17 78332128 78332128 single base substitution C T synonymous_variant L1708L 5122C>T CESC-US 17 78332128 78332128 single base substitution C T synonymous_variant L3635L 10903C>T CESC-US 17 78332128 78332128 single base substitution C T synonymous_variant L3684L 11050C>T CESC-US 17 78336962 78336962 single base substitution G A downstream_gene_variant CESC-US 17 78336962 78336962 single base substitution G A exon_variant CESC-US 17 78336962 78336962 single base substitution G A missense_variant E1879K 5635G>A CESC-US 17 78336962 78336962 single base substitution G A missense_variant E3806K 11416G>A CESC-US 17 78336962 78336962 single base substitution G A missense_variant E3855K 11563G>A CESC-US 17 78336962 78336962 single base substitution G A upstream_gene_variant CESC-US 17 78337555 78337555 single base substitution C T downstream_gene_variant CESC-US 17 78337555 78337555 single base substitution C T exon_variant CESC-US 17 78337555 78337555 single base substitution C T synonymous_variant S1978S 5934C>T CESC-US 17 78337555 78337555 single base substitution C T synonymous_variant S3905S 11715C>T CESC-US 17 78337555 78337555 single base substitution C T synonymous_variant S3954S 11862C>T CESC-US 17 78355466 78355466 single base substitution C T downstream_gene_variant CESC-US 17 78355466 78355466 single base substitution C T exon_variant CESC-US 17 78355466 78355466 single base substitution C T synonymous_variant I2712I 8136C>T CESC-US 17 78355466 78355466 single base substitution C T synonymous_variant I4639I 13917C>T CESC-US 17 78355466 78355466 single base substitution C T synonymous_variant I4688I 14064C>T CESC-US 17 78355466 78355466 single base substitution C T upstream_gene_variant CESC-US 17 78360057 78360057 single base substitution C A downstream_gene_variant CESC-US 17 78360057 78360057 single base substitution C A exon_variant CESC-US 17 78360057 78360057 single base substitution C A synonymous_variant I2922I 8766C>A CESC-US 17 78360057 78360057 single base substitution C A synonymous_variant I4849I 14547C>A CESC-US 17 78360057 78360057 single base substitution C A synonymous_variant I4898I 14694C>A CESC-US 17 78360057 78360057 single base substitution C A upstream_gene_variant CESC-US 17 78360193 78360193 single base substitution G T downstream_gene_variant CESC-US 17 78360193 78360193 single base substitution G T exon_variant CESC-US 17 78360193 78360193 single base substitution G T missense_variant V2968F 8902G>T CESC-US 17 78360193 78360193 single base substitution G T missense_variant V4895F 14683G>T CESC-US 17 78360193 78360193 single base substitution G T missense_variant V4944F 14830G>T CESC-US 17 78360193 78360193 single base substitution G T upstream_gene_variant CESC-US 17 78367415 78367415 single base substitution G A 3_prime_UTR_variant CESC-US 17 78367415 78367415 single base substitution G A downstream_gene_variant CESC-US 17 78367415 78367415 single base substitution G A exon_variant CLLE-ES 17 78236323 78236323 single base substitution C T intron_variant CLLE-ES 17 78244561 78244561 single base substitution A T intron_variant CLLE-ES 17 78255134 78255134 insertion of <=200bp - CC intron_variant CLLE-ES 17 78276059 78276059 single base substitution T C downstream_gene_variant CLLE-ES 17 78276059 78276059 single base substitution T C intron_variant CLLE-ES 17 78307506 78307506 single base substitution C A intron_variant CLLE-ES 17 78307506 78307506 single base substitution C A upstream_gene_variant CLLE-ES 17 78315440 78315440 single base substitution A T downstream_gene_variant CLLE-ES 17 78315440 78315440 single base substitution A T intron_variant CLLE-ES 17 78337441 78337441 single base substitution G A downstream_gene_variant CLLE-ES 17 78337441 78337441 single base substitution G A exon_variant CLLE-ES 17 78337441 78337441 single base substitution G A synonymous_variant T1940T 5820G>A CLLE-ES 17 78337441 78337441 single base substitution G A synonymous_variant T3867T 11601G>A CLLE-ES 17 78337441 78337441 single base substitution G A synonymous_variant T3916T 11748G>A CLLE-ES 17 78337441 78337441 single base substitution G A upstream_gene_variant CLLE-ES 17 78346092 78346095 deletion of <=200bp TAAA - intron_variant CLLE-ES 17 78346092 78346095 deletion of <=200bp TAAA - upstream_gene_variant COAD-US 17 78268639 78268639 single base substitution C T downstream_gene_variant COAD-US 17 78268639 78268639 single base substitution C T exon_variant COAD-US 17 78268639 78268639 single base substitution C T missense_variant A531V 1592C>T COAD-US 17 78268639 78268639 single base substitution C T missense_variant A580V 1739C>T COAD-US 17 78268639 78268639 single base substitution C T upstream_gene_variant COAD-US 17 78272294 78272294 single base substitution C T exon_variant COAD-US 17 78272294 78272294 single base substitution C T missense_variant P729L 2186C>T COAD-US 17 78272294 78272294 single base substitution C T missense_variant P778L 2333C>T COAD-US 17 78272295 78272295 single base substitution G A exon_variant COAD-US 17 78272295 78272295 single base substitution G A synonymous_variant P729P 2187G>A COAD-US 17 78272295 78272295 single base substitution G A synonymous_variant P778P 2334G>A COAD-US 17 78280073 78280074 deletion of <=200bp GA - exon_variant COAD-US 17 78280073 78280074 deletion of <=200bp GA - frameshift_variant MR744 COAD-US 17 78280073 78280074 deletion of <=200bp GA - frameshift_variant MR793 COAD-US 17 78293189 78293189 single base substitution A T intron_variant COAD-US 17 78293189 78293189 single base substitution A T missense_variant K1034M 3101A>T COAD-US 17 78313961 78313961 single base substitution G T downstream_gene_variant COAD-US 17 78313961 78313961 single base substitution G T missense_variant G1932W 5794G>T COAD-US 17 78313961 78313961 single base substitution G T missense_variant G1981W 5941G>T COAD-US 17 78313961 78313961 single base substitution G T missense_variant G5W 13G>T COAD-US 17 78317681 78317681 single base substitution C A downstream_gene_variant COAD-US 17 78317681 78317681 single base substitution C A missense_variant L143I 427C>A COAD-US 17 78317681 78317681 single base substitution C A missense_variant L2070I 6208C>A COAD-US 17 78317681 78317681 single base substitution C A missense_variant L2119I 6355C>A COAD-US 17 78318750 78318750 single base substitution C T synonymous_variant C2205C 6615C>T COAD-US 17 78318750 78318750 single base substitution C T synonymous_variant C2254C 6762C>T COAD-US 17 78318750 78318750 single base substitution C T synonymous_variant C278C 834C>T COAD-US 17 78319406 78319406 single base substitution G A missense_variant C2424Y 7271G>A COAD-US 17 78319406 78319406 single base substitution G A missense_variant C2473Y 7418G>A COAD-US 17 78319406 78319406 single base substitution G A missense_variant C497Y 1490G>A COAD-US 17 78319411 78319411 single base substitution A G missense_variant K2426E 7276A>G COAD-US 17 78319411 78319411 single base substitution A G missense_variant K2475E 7423A>G COAD-US 17 78319411 78319411 single base substitution A G missense_variant K499E 1495A>G COAD-US 17 78319965 78319965 single base substitution C T synonymous_variant N2610N 7830C>T COAD-US 17 78319965 78319965 single base substitution C T synonymous_variant N2659N 7977C>T COAD-US 17 78319965 78319965 single base substitution C T synonymous_variant N683N 2049C>T COAD-US 17 78320163 78320163 single base substitution C T synonymous_variant T2676T 8028C>T COAD-US 17 78320163 78320163 single base substitution C T synonymous_variant T2725T 8175C>T COAD-US 17 78320163 78320163 single base substitution C T synonymous_variant T749T 2247C>T COAD-US 17 78320271 78320271 single base substitution G A synonymous_variant P2712P 8136G>A COAD-US 17 78320271 78320271 single base substitution G A synonymous_variant P2761P 8283G>A COAD-US 17 78320271 78320271 single base substitution G A synonymous_variant P785P 2355G>A COAD-US 17 78320488 78320488 single base substitution G A missense_variant A2785T 8353G>A COAD-US 17 78320488 78320488 single base substitution G A missense_variant A2834T 8500G>A COAD-US 17 78320488 78320488 single base substitution G A missense_variant A858T 2572G>A COAD-US 17 78321725 78321725 single base substitution A C missense_variant K1270T 3809A>C COAD-US 17 78321725 78321725 single base substitution A C missense_variant K3197T 9590A>C COAD-US 17 78321725 78321725 single base substitution A C missense_variant K3246T 9737A>C COAD-US 17 78321923 78321923 single base substitution C T missense_variant T1336M 4007C>T COAD-US 17 78321923 78321923 single base substitution C T missense_variant T3263M 9788C>T COAD-US 17 78321923 78321923 single base substitution C T missense_variant T3312M 9935C>T COAD-US 17 78324167 78324167 single base substitution C T synonymous_variant I1458I 4374C>T COAD-US 17 78324167 78324167 single base substitution C T synonymous_variant I3385I 10155C>T COAD-US 17 78324167 78324167 single base substitution C T synonymous_variant I3434I 10302C>T COAD-US 17 78324167 78324167 single base substitution C T upstream_gene_variant COAD-US 17 78334002 78334004 deletion of <=200bp AGA - exon_variant COAD-US 17 78334002 78334004 deletion of <=200bp AGA - splice_region_variant COAD-US 17 78334002 78334004 deletion of <=200bp AGA - upstream_gene_variant COAD-US 17 78335610 78335610 single base substitution G A downstream_gene_variant COAD-US 17 78335610 78335610 single base substitution G A exon_variant COAD-US 17 78335610 78335610 single base substitution G A synonymous_variant P1832P 5496G>A COAD-US 17 78335610 78335610 single base substitution G A synonymous_variant P3759P 11277G>A COAD-US 17 78335610 78335610 single base substitution G A synonymous_variant P3808P 11424G>A COAD-US 17 78335610 78335610 single base substitution G A upstream_gene_variant COAD-US 17 78337058 78337058 single base substitution G C downstream_gene_variant COAD-US 17 78337058 78337058 single base substitution G C exon_variant COAD-US 17 78337058 78337058 single base substitution G C missense_variant V1911L 5731G>C COAD-US 17 78337058 78337058 single base substitution G C missense_variant V3838L 11512G>C COAD-US 17 78337058 78337058 single base substitution G C missense_variant V3887L 11659G>C COAD-US 17 78337058 78337058 single base substitution G C upstream_gene_variant COAD-US 17 78337584 78337584 single base substitution A G downstream_gene_variant COAD-US 17 78337584 78337584 single base substitution A G exon_variant COAD-US 17 78337584 78337584 single base substitution A G missense_variant E1988G 5963A>G COAD-US 17 78337584 78337584 single base substitution A G missense_variant E3915G 11744A>G COAD-US 17 78337584 78337584 single base substitution A G missense_variant E3964G 11891A>G COAD-US 17 78346491 78346491 single base substitution C T exon_variant COAD-US 17 78346491 78346491 single base substitution C T synonymous_variant L2309L 6927C>T COAD-US 17 78346491 78346491 single base substitution C T synonymous_variant L4236L 12708C>T COAD-US 17 78346491 78346491 single base substitution C T synonymous_variant L4285L 12855C>T COAD-US 17 78346491 78346491 single base substitution C T upstream_gene_variant COAD-US 17 78346830 78346830 single base substitution G A exon_variant COAD-US 17 78346830 78346830 single base substitution G A synonymous_variant R2342R 7026G>A COAD-US 17 78346830 78346830 single base substitution G A synonymous_variant R4269R 12807G>A COAD-US 17 78346830 78346830 single base substitution G A synonymous_variant R4318R 12954G>A COAD-US 17 78346830 78346830 single base substitution G A upstream_gene_variant COAD-US 17 78348281 78348281 single base substitution C A exon_variant COAD-US 17 78348281 78348281 single base substitution C A synonymous_variant G2395G 7185C>A COAD-US 17 78348281 78348281 single base substitution C A synonymous_variant G40G 120C>A COAD-US 17 78348281 78348281 single base substitution C A synonymous_variant G4322G 12966C>A COAD-US 17 78348281 78348281 single base substitution C A synonymous_variant G4371G 13113C>A COAD-US 17 78348281 78348281 single base substitution C A upstream_gene_variant COAD-US 17 78355489 78355489 single base substitution G A downstream_gene_variant COAD-US 17 78355489 78355489 single base substitution G A exon_variant COAD-US 17 78355489 78355489 single base substitution G A missense_variant R2720H 8159G>A COAD-US 17 78355489 78355489 single base substitution G A missense_variant R4647H 13940G>A COAD-US 17 78355489 78355489 single base substitution G A missense_variant R4696H 14087G>A COAD-US 17 78355489 78355489 single base substitution G A upstream_gene_variant COAD-US 17 78357607 78357607 single base substitution T C downstream_gene_variant COAD-US 17 78357607 78357607 single base substitution T C exon_variant COAD-US 17 78357607 78357607 single base substitution T C missense_variant V2807A 8420T>C COAD-US 17 78357607 78357607 single base substitution T C missense_variant V4734A 14201T>C COAD-US 17 78357607 78357607 single base substitution T C missense_variant V4783A 14348T>C COAD-US 17 78357607 78357607 single base substitution T C upstream_gene_variant COAD-US 17 78358916 78358916 single base substitution C T downstream_gene_variant COAD-US 17 78358916 78358916 single base substitution C T exon_variant COAD-US 17 78358916 78358916 single base substitution C T synonymous_variant N2873N 8619C>T COAD-US 17 78358916 78358916 single base substitution C T synonymous_variant N4800N 14400C>T COAD-US 17 78358916 78358916 single base substitution C T synonymous_variant N4849N 14547C>T COAD-US 17 78358916 78358916 single base substitution C T upstream_gene_variant COAD-US 17 78358917 78358917 single base substitution G A downstream_gene_variant COAD-US 17 78358917 78358917 single base substitution G A exon_variant COAD-US 17 78358917 78358917 single base substitution G A missense_variant V2874I 8620G>A COAD-US 17 78358917 78358917 single base substitution G A missense_variant V4801I 14401G>A COAD-US 17 78358917 78358917 single base substitution G A missense_variant V4850I 14548G>A COAD-US 17 78358917 78358917 single base substitution G A upstream_gene_variant COAD-US 17 78363037 78363037 deletion of <=200bp G - downstream_gene_variant COAD-US 17 78363037 78363037 deletion of <=200bp G - exon_variant COAD-US 17 78363037 78363037 deletion of <=200bp G - frameshift_variant C3095 COAD-US 17 78363037 78363037 deletion of <=200bp G - frameshift_variant C5022 COAD-US 17 78363037 78363037 deletion of <=200bp G - frameshift_variant C5071 COAD-US 17 78363053 78363053 single base substitution C T downstream_gene_variant COAD-US 17 78363053 78363053 single base substitution C T exon_variant COAD-US 17 78363053 78363053 single base substitution C T synonymous_variant V3100V 9300C>T COAD-US 17 78363053 78363053 single base substitution C T synonymous_variant V5027V 15081C>T COAD-US 17 78363053 78363053 single base substitution C T synonymous_variant V5076V 15228C>T COAD-US 17 78363711 78363711 single base substitution G A downstream_gene_variant COAD-US 17 78363711 78363711 single base substitution G A exon_variant COAD-US 17 78363711 78363711 single base substitution G A synonymous_variant L3166L 9498G>A COAD-US 17 78363711 78363711 single base substitution G A synonymous_variant L5093L 15279G>A COAD-US 17 78363711 78363711 single base substitution G A synonymous_variant L5142L 15426G>A COAD-US 17 78363847 78363847 single base substitution G A downstream_gene_variant COAD-US 17 78363847 78363847 single base substitution G A exon_variant COAD-US 17 78363847 78363847 single base substitution G A synonymous_variant A3180A 9540G>A COAD-US 17 78363847 78363847 single base substitution G A synonymous_variant A5107A 15321G>A COAD-US 17 78363847 78363847 single base substitution G A synonymous_variant A5156A 15468G>A COAD-US 17 78363929 78363929 single base substitution G A downstream_gene_variant COAD-US 17 78363929 78363929 single base substitution G A exon_variant COAD-US 17 78363929 78363929 single base substitution G A missense_variant E3208K 9622G>A COAD-US 17 78363929 78363929 single base substitution G A missense_variant E5135K 15403G>A COAD-US 17 78363929 78363929 single base substitution G A missense_variant E5184K 15550G>A COCA-CN 17 78280276 78280276 single base substitution T C splice_region_variant COCA-CN 17 78282962 78282962 single base substitution A G exon_variant COCA-CN 17 78282962 78282962 single base substitution A G synonymous_variant L882L 2646A>G COCA-CN 17 78282962 78282962 single base substitution A G synonymous_variant L931L 2793A>G COCA-CN 17 78287570 78287570 single base substitution C A intron_variant COCA-CN 17 78287591 78287591 single base substitution A G intron_variant COCA-CN 17 78287921 78287921 single base substitution A G intron_variant COCA-CN 17 78287960 78287960 single base substitution T G intron_variant COCA-CN 17 78301809 78301809 single base substitution G A intron_variant COCA-CN 17 78302007 78302007 single base substitution C T intron_variant COCA-CN 17 78302258 78302258 single base substitution C T exon_variant COCA-CN 17 78302258 78302258 single base substitution C T synonymous_variant N1166N 3498C>T COCA-CN 17 78302258 78302258 single base substitution C T synonymous_variant N1215N 3645C>T COCA-CN 17 78309108 78309108 single base substitution C T intron_variant COCA-CN 17 78309108 78309108 single base substitution C T upstream_gene_variant COCA-CN 17 78310097 78310097 single base substitution C T exon_variant COCA-CN 17 78310097 78310097 single base substitution C T synonymous_variant S1482S 4446C>T COCA-CN 17 78310097 78310097 single base substitution C T synonymous_variant S1531S 4593C>T COCA-CN 17 78310097 78310097 single base substitution C T upstream_gene_variant COCA-CN 17 78313348 78313348 single base substitution G A downstream_gene_variant COCA-CN 17 78313348 78313348 single base substitution G A synonymous_variant T1727T 5181G>A COCA-CN 17 78313348 78313348 single base substitution G A synonymous_variant T1776T 5328G>A COCA-CN 17 78313348 78313348 single base substitution G A upstream_gene_variant COCA-CN 17 78313729 78313729 single base substitution G A downstream_gene_variant COCA-CN 17 78313729 78313729 single base substitution G A synonymous_variant Q1854Q 5562G>A COCA-CN 17 78313729 78313729 single base substitution G A synonymous_variant Q1903Q 5709G>A COCA-CN 17 78313729 78313729 single base substitution G A upstream_gene_variant COCA-CN 17 78314187 78314187 single base substitution G A downstream_gene_variant COCA-CN 17 78314187 78314187 single base substitution G A intron_variant COCA-CN 17 78319108 78319108 single base substitution A G missense_variant N2325D 6973A>G COCA-CN 17 78319108 78319108 single base substitution A G missense_variant N2374D 7120A>G COCA-CN 17 78319108 78319108 single base substitution A G missense_variant N398D 1192A>G COCA-CN 17 78319641 78319641 single base substitution G A synonymous_variant L2502L 7506G>A COCA-CN 17 78319641 78319641 single base substitution G A synonymous_variant L2551L 7653G>A COCA-CN 17 78319641 78319641 single base substitution G A synonymous_variant L575L 1725G>A COCA-CN 17 78320062 78320062 single base substitution C T missense_variant R2643C 7927C>T COCA-CN 17 78320062 78320062 single base substitution C T missense_variant R2692C 8074C>T COCA-CN 17 78320062 78320062 single base substitution C T missense_variant R716C 2146C>T COCA-CN 17 78321267 78321267 single base substitution G A synonymous_variant V1117V 3351G>A COCA-CN 17 78321267 78321267 single base substitution G A synonymous_variant V3044V 9132G>A COCA-CN 17 78321267 78321267 single base substitution G A synonymous_variant V3093V 9279G>A COCA-CN 17 78321803 78321803 single base substitution C T missense_variant S1296L 3887C>T COCA-CN 17 78321803 78321803 single base substitution C T missense_variant S3223L 9668C>T COCA-CN 17 78321803 78321803 single base substitution C T missense_variant S3272L 9815C>T COCA-CN 17 78323757 78323757 single base substitution T C intron_variant COCA-CN 17 78323757 78323757 single base substitution T C upstream_gene_variant COCA-CN 17 78326630 78326630 single base substitution C A intron_variant COCA-CN 17 78326630 78326630 single base substitution C A upstream_gene_variant COCA-CN 17 78327286 78327286 single base substitution C T intron_variant COCA-CN 17 78327286 78327286 single base substitution C T upstream_gene_variant COCA-CN 17 78327295 78327295 single base substitution G A intron_variant COCA-CN 17 78327295 78327295 single base substitution G A upstream_gene_variant COCA-CN 17 78341450 78341450 single base substitution G A downstream_gene_variant COCA-CN 17 78341450 78341450 single base substitution G A intron_variant COCA-CN 17 78341450 78341450 single base substitution G A upstream_gene_variant COCA-CN 17 78341978 78341978 single base substitution T A downstream_gene_variant COCA-CN 17 78341978 78341978 single base substitution T A intron_variant COCA-CN 17 78341978 78341978 single base substitution T A upstream_gene_variant COCA-CN 17 78341979 78341979 single base substitution T A downstream_gene_variant COCA-CN 17 78341979 78341979 single base substitution T A intron_variant COCA-CN 17 78341979 78341979 single base substitution T A upstream_gene_variant COCA-CN 17 78346286 78346286 single base substitution T C intron_variant COCA-CN 17 78346286 78346286 single base substitution T C upstream_gene_variant COCA-CN 17 78346922 78346922 single base substitution G A exon_variant COCA-CN 17 78346922 78346922 single base substitution G A missense_variant R18H 53G>A COCA-CN 17 78346922 78346922 single base substitution G A missense_variant R2373H 7118G>A COCA-CN 17 78346922 78346922 single base substitution G A missense_variant R4300H 12899G>A COCA-CN 17 78346922 78346922 single base substitution G A missense_variant R4349H 13046G>A COCA-CN 17 78346922 78346922 single base substitution G A upstream_gene_variant COCA-CN 17 78355703 78355703 single base substitution G T downstream_gene_variant COCA-CN 17 78355703 78355703 single base substitution G T exon_variant COCA-CN 17 78355703 78355703 single base substitution G T intron_variant COCA-CN 17 78355703 78355703 single base substitution G T upstream_gene_variant COCA-CN 17 78363604 78363604 single base substitution T A downstream_gene_variant COCA-CN 17 78363604 78363604 single base substitution T A intron_variant COCA-CN 17 78374085 78374085 single base substitution G A downstream_gene_variant EOPC-DE 17 78253132 78253132 single base substitution G A intron_variant EOPC-DE 17 78362307 78362307 single base substitution C T downstream_gene_variant EOPC-DE 17 78362307 78362307 single base substitution C T intron_variant EOPC-DE 17 78362307 78362307 single base substitution C T upstream_gene_variant ESAD-UK 17 78231884 78231884 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 78235339 78235339 single base substitution C T intron_variant ESAD-UK 17 78237780 78237780 single base substitution C T intron_variant ESAD-UK 17 78238161 78238161 single base substitution G A intron_variant ESAD-UK 17 78239964 78239964 single base substitution G A intron_variant ESAD-UK 17 78240415 78240415 single base substitution C T intron_variant ESAD-UK 17 78241414 78241414 single base substitution C G intron_variant ESAD-UK 17 78242280 78242280 single base substitution T G intron_variant ESAD-UK 17 78243910 78243910 insertion of <=200bp - CA intron_variant ESAD-UK 17 78245268 78245268 single base substitution G A intron_variant ESAD-UK 17 78250873 78250873 insertion of <=200bp - A intron_variant ESAD-UK 17 78260000 78260000 single base substitution G A intron_variant ESAD-UK 17 78260000 78260000 single base substitution G A upstream_gene_variant ESAD-UK 17 78261356 78261356 single base substitution C T intron_variant ESAD-UK 17 78261356 78261356 single base substitution C T upstream_gene_variant ESAD-UK 17 78262237 78262237 single base substitution C T intron_variant ESAD-UK 17 78262237 78262237 single base substitution C T upstream_gene_variant ESAD-UK 17 78262261 78262261 single base substitution G A intron_variant ESAD-UK 17 78262261 78262261 single base substitution G A upstream_gene_variant ESAD-UK 17 78263755 78263755 single base substitution T G intron_variant ESAD-UK 17 78265745 78265745 single base substitution C T exon_variant ESAD-UK 17 78265745 78265745 single base substitution C T intron_variant ESAD-UK 17 78265745 78265745 single base substitution C T upstream_gene_variant ESAD-UK 17 78266135 78266135 single base substitution G T downstream_gene_variant ESAD-UK 17 78266135 78266135 single base substitution G T intron_variant ESAD-UK 17 78266135 78266135 single base substitution G T upstream_gene_variant ESAD-UK 17 78266789 78266789 single base substitution C A downstream_gene_variant ESAD-UK 17 78266789 78266789 single base substitution C A intron_variant ESAD-UK 17 78266789 78266789 single base substitution C A upstream_gene_variant ESAD-UK 17 78267927 78267927 single base substitution C G downstream_gene_variant ESAD-UK 17 78267927 78267927 single base substitution C G intron_variant ESAD-UK 17 78267927 78267927 single base substitution C G upstream_gene_variant ESAD-UK 17 78268442 78268442 single base substitution A T downstream_gene_variant ESAD-UK 17 78268442 78268442 single base substitution A T intron_variant ESAD-UK 17 78268442 78268442 single base substitution A T upstream_gene_variant ESAD-UK 17 78269254 78269254 single base substitution G A downstream_gene_variant ESAD-UK 17 78269254 78269254 single base substitution G A intron_variant ESAD-UK 17 78269254 78269254 single base substitution G A upstream_gene_variant ESAD-UK 17 78270338 78270338 single base substitution G T downstream_gene_variant ESAD-UK 17 78270338 78270338 single base substitution G T intron_variant ESAD-UK 17 78270462 78270462 single base substitution C A downstream_gene_variant ESAD-UK 17 78270462 78270462 single base substitution C A intron_variant ESAD-UK 17 78271423 78271423 deletion of <=200bp A - intron_variant ESAD-UK 17 78273779 78273779 single base substitution T G downstream_gene_variant ESAD-UK 17 78273779 78273779 single base substitution T G intron_variant ESAD-UK 17 78278340 78278340 single base substitution T G intron_variant ESAD-UK 17 78278460 78278460 insertion of <=200bp - A intron_variant ESAD-UK 17 78283263 78283263 single base substitution G C intron_variant ESAD-UK 17 78285002 78285002 single base substitution A G intron_variant ESAD-UK 17 78291948 78291948 single base substitution C G intron_variant ESAD-UK 17 78292412 78292412 single base substitution C T intron_variant ESAD-UK 17 78292568 78292568 single base substitution T G intron_variant ESAD-UK 17 78294145 78294145 single base substitution G T 3_prime_UTR_variant ESAD-UK 17 78294145 78294145 single base substitution G T intron_variant ESAD-UK 17 78294450 78294450 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 78294450 78294450 single base substitution G A intron_variant ESAD-UK 17 78297779 78297779 insertion of <=200bp - GTGT downstream_gene_variant ESAD-UK 17 78297779 78297779 insertion of <=200bp - GTGT intron_variant ESAD-UK 17 78298017 78298017 single base substitution C T downstream_gene_variant ESAD-UK 17 78298017 78298017 single base substitution C T intron_variant ESAD-UK 17 78298056 78298065 deletion of <=200bp GTTCCTTTTT - downstream_gene_variant ESAD-UK 17 78298056 78298065 deletion of <=200bp GTTCCTTTTT - intron_variant ESAD-UK 17 78299491 78299491 single base substitution G A downstream_gene_variant ESAD-UK 17 78299491 78299491 single base substitution G A intron_variant ESAD-UK 17 78301803 78301803 single base substitution C T intron_variant ESAD-UK 17 78303371 78303371 single base substitution G A intron_variant ESAD-UK 17 78304469 78304469 single base substitution C A intron_variant ESAD-UK 17 78307989 78307989 single base substitution A T exon_variant ESAD-UK 17 78307989 78307989 single base substitution A T missense_variant I1410F 4228A>T ESAD-UK 17 78307989 78307989 single base substitution A T missense_variant I1459F 4375A>T ESAD-UK 17 78307989 78307989 single base substitution A T upstream_gene_variant ESAD-UK 17 78311082 78311082 single base substitution G A downstream_gene_variant ESAD-UK 17 78311082 78311082 single base substitution G A intron_variant ESAD-UK 17 78311082 78311082 single base substitution G A upstream_gene_variant ESAD-UK 17 78311125 78311125 deletion of <=200bp C - downstream_gene_variant ESAD-UK 17 78311125 78311125 deletion of <=200bp C - intron_variant ESAD-UK 17 78311125 78311125 deletion of <=200bp C - upstream_gene_variant ESAD-UK 17 78311424 78311424 single base substitution G A downstream_gene_variant ESAD-UK 17 78311424 78311424 single base substitution G A exon_variant ESAD-UK 17 78311424 78311424 single base substitution G A synonymous_variant V1522V 4566G>A ESAD-UK 17 78311424 78311424 single base substitution G A synonymous_variant V1571V 4713G>A ESAD-UK 17 78311424 78311424 single base substitution G A upstream_gene_variant ESAD-UK 17 78312108 78312108 insertion of <=200bp - C downstream_gene_variant ESAD-UK 17 78312108 78312108 insertion of <=200bp - C intron_variant ESAD-UK 17 78312108 78312108 insertion of <=200bp - C upstream_gene_variant ESAD-UK 17 78312430 78312430 single base substitution G T downstream_gene_variant ESAD-UK 17 78312430 78312430 single base substitution G T intron_variant ESAD-UK 17 78312430 78312430 single base substitution G T upstream_gene_variant ESAD-UK 17 78315774 78315774 insertion of <=200bp - T downstream_gene_variant ESAD-UK 17 78315774 78315774 insertion of <=200bp - T intron_variant ESAD-UK 17 78316126 78316126 single base substitution C T downstream_gene_variant ESAD-UK 17 78316126 78316126 single base substitution C T intron_variant ESAD-UK 17 78317088 78317088 single base substitution A G downstream_gene_variant ESAD-UK 17 78317088 78317088 single base substitution A G missense_variant K122R 365A>G ESAD-UK 17 78317088 78317088 single base substitution A G missense_variant K2049R 6146A>G ESAD-UK 17 78317088 78317088 single base substitution A G missense_variant K2098R 6293A>G ESAD-UK 17 78317638 78317638 single base substitution C T downstream_gene_variant ESAD-UK 17 78317638 78317638 single base substitution C T intron_variant ESAD-UK 17 78317762 78317762 single base substitution G A downstream_gene_variant ESAD-UK 17 78317762 78317762 single base substitution G A missense_variant V170I 508G>A ESAD-UK 17 78317762 78317762 single base substitution G A missense_variant V2097I 6289G>A ESAD-UK 17 78317762 78317762 single base substitution G A missense_variant V2146I 6436G>A ESAD-UK 17 78319445 78319445 single base substitution G A missense_variant R2437Q 7310G>A ESAD-UK 17 78319445 78319445 single base substitution G A missense_variant R2486Q 7457G>A ESAD-UK 17 78319445 78319445 single base substitution G A missense_variant R510Q 1529G>A ESAD-UK 17 78321258 78321258 single base substitution C T synonymous_variant Y1114Y 3342C>T ESAD-UK 17 78321258 78321258 single base substitution C T synonymous_variant Y3041Y 9123C>T ESAD-UK 17 78321258 78321258 single base substitution C T synonymous_variant Y3090Y 9270C>T ESAD-UK 17 78322159 78322159 single base substitution A G intron_variant ESAD-UK 17 78322386 78322386 single base substitution G A intron_variant ESAD-UK 17 78327612 78327612 single base substitution G A intron_variant ESAD-UK 17 78327612 78327612 single base substitution G A upstream_gene_variant ESAD-UK 17 78328619 78328619 deletion of <=200bp A - intron_variant ESAD-UK 17 78330298 78330298 single base substitution C G intron_variant ESAD-UK 17 78331201 78331201 single base substitution G A intron_variant ESAD-UK 17 78332446 78332446 single base substitution C G intron_variant ESAD-UK 17 78332446 78332446 single base substitution C G upstream_gene_variant ESAD-UK 17 78332862 78332862 single base substitution C T intron_variant ESAD-UK 17 78332862 78332862 single base substitution C T upstream_gene_variant ESAD-UK 17 78342053 78342053 single base substitution G A downstream_gene_variant ESAD-UK 17 78342053 78342053 single base substitution G A intron_variant ESAD-UK 17 78342053 78342053 single base substitution G A upstream_gene_variant ESAD-UK 17 78342069 78342069 single base substitution C A downstream_gene_variant ESAD-UK 17 78342069 78342069 single base substitution C A intron_variant ESAD-UK 17 78342069 78342069 single base substitution C A upstream_gene_variant ESAD-UK 17 78345124 78345124 single base substitution G A intron_variant ESAD-UK 17 78345124 78345124 single base substitution G A upstream_gene_variant ESAD-UK 17 78346449 78346449 single base substitution G A exon_variant ESAD-UK 17 78346449 78346449 single base substitution G A synonymous_variant S2295S 6885G>A ESAD-UK 17 78346449 78346449 single base substitution G A synonymous_variant S4222S 12666G>A ESAD-UK 17 78346449 78346449 single base substitution G A synonymous_variant S4271S 12813G>A ESAD-UK 17 78346449 78346449 single base substitution G A upstream_gene_variant ESAD-UK 17 78349374 78349374 single base substitution C T downstream_gene_variant ESAD-UK 17 78349374 78349374 single base substitution C T intron_variant ESAD-UK 17 78349374 78349374 single base substitution C T upstream_gene_variant ESAD-UK 17 78355852 78355852 single base substitution C T downstream_gene_variant ESAD-UK 17 78355852 78355852 single base substitution C T exon_variant ESAD-UK 17 78355852 78355852 single base substitution C T intron_variant ESAD-UK 17 78355852 78355852 single base substitution C T upstream_gene_variant ESAD-UK 17 78356300 78356300 single base substitution G C downstream_gene_variant ESAD-UK 17 78356300 78356300 single base substitution G C exon_variant ESAD-UK 17 78356300 78356300 single base substitution G C intron_variant ESAD-UK 17 78356300 78356300 single base substitution G C upstream_gene_variant ESAD-UK 17 78357696 78357696 single base substitution A G downstream_gene_variant ESAD-UK 17 78357696 78357696 single base substitution A G exon_variant ESAD-UK 17 78357696 78357696 single base substitution A G missense_variant R2837G 8509A>G ESAD-UK 17 78357696 78357696 single base substitution A G missense_variant R4764G 14290A>G ESAD-UK 17 78357696 78357696 single base substitution A G missense_variant R4813G 14437A>G ESAD-UK 17 78357696 78357696 single base substitution A G upstream_gene_variant ESAD-UK 17 78357775 78357775 insertion of <=200bp - C downstream_gene_variant ESAD-UK 17 78357775 78357775 insertion of <=200bp - C intron_variant ESAD-UK 17 78357775 78357775 insertion of <=200bp - C upstream_gene_variant ESAD-UK 17 78359479 78359479 single base substitution C T downstream_gene_variant ESAD-UK 17 78359479 78359479 single base substitution C T intron_variant ESAD-UK 17 78359479 78359479 single base substitution C T upstream_gene_variant ESAD-UK 17 78365815 78365815 single base substitution G A downstream_gene_variant ESAD-UK 17 78365815 78365815 single base substitution G A intron_variant ESAD-UK 17 78368532 78368532 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 78368532 78368532 single base substitution G A downstream_gene_variant ESAD-UK 17 78368532 78368532 single base substitution G A exon_variant ESAD-UK 17 78371509 78371509 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 78371509 78371509 single base substitution G A downstream_gene_variant ESAD-UK 17 78372580 78372580 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 17 78372580 78372580 insertion of <=200bp - A downstream_gene_variant ESAD-UK 17 78372872 78372872 single base substitution C T downstream_gene_variant ESAD-UK 17 78373797 78373797 single base substitution G A downstream_gene_variant ESAD-UK 17 78373918 78373918 single base substitution A C downstream_gene_variant ESAD-UK 17 78374085 78374085 single base substitution G A downstream_gene_variant ESAD-UK 17 78374134 78374134 single base substitution G A downstream_gene_variant ESAD-UK 17 78376196 78376196 single base substitution C T downstream_gene_variant ESCA-CN 17 78262595 78262595 single base substitution C A intron_variant ESCA-CN 17 78262595 78262595 single base substitution C A upstream_gene_variant ESCA-CN 17 78268705 78268705 single base substitution T A downstream_gene_variant ESCA-CN 17 78268705 78268705 single base substitution T A exon_variant ESCA-CN 17 78268705 78268705 single base substitution T A missense_variant F553Y 1658T>A ESCA-CN 17 78268705 78268705 single base substitution T A missense_variant F602Y 1805T>A ESCA-CN 17 78268705 78268705 single base substitution T A upstream_gene_variant ESCA-CN 17 78280189 78280189 single base substitution G A exon_variant ESCA-CN 17 78280189 78280189 single base substitution G A missense_variant R783H 2348G>A ESCA-CN 17 78280189 78280189 single base substitution G A missense_variant R832H 2495G>A ESCA-CN 17 78313068 78313068 single base substitution T C downstream_gene_variant ESCA-CN 17 78313068 78313068 single base substitution T C exon_variant ESCA-CN 17 78313068 78313068 single base substitution T C missense_variant F1634S 4901T>C ESCA-CN 17 78313068 78313068 single base substitution T C missense_variant F1683S 5048T>C ESCA-CN 17 78313068 78313068 single base substitution T C upstream_gene_variant ESCA-CN 17 78313381 78313381 single base substitution G A downstream_gene_variant ESCA-CN 17 78313381 78313381 single base substitution G A synonymous_variant L1738L 5214G>A ESCA-CN 17 78313381 78313381 single base substitution G A synonymous_variant L1787L 5361G>A ESCA-CN 17 78313381 78313381 single base substitution G A upstream_gene_variant ESCA-CN 17 78313846 78313846 single base substitution C T downstream_gene_variant ESCA-CN 17 78313846 78313846 single base substitution C T synonymous_variant S1893S 5679C>T ESCA-CN 17 78313846 78313846 single base substitution C T synonymous_variant S1942S 5826C>T ESCA-CN 17 78313846 78313846 single base substitution C T upstream_gene_variant ESCA-CN 17 78317009 78317009 single base substitution A T downstream_gene_variant ESCA-CN 17 78317009 78317009 single base substitution A T missense_variant I2023F 6067A>T ESCA-CN 17 78317009 78317009 single base substitution A T missense_variant I2072F 6214A>T ESCA-CN 17 78317009 78317009 single base substitution A T missense_variant I96F 286A>T ESCA-CN 17 78335650 78335650 single base substitution C T downstream_gene_variant ESCA-CN 17 78335650 78335650 single base substitution C T exon_variant ESCA-CN 17 78335650 78335650 single base substitution C T missense_variant L1846F 5536C>T ESCA-CN 17 78335650 78335650 single base substitution C T missense_variant L3773F 11317C>T ESCA-CN 17 78335650 78335650 single base substitution C T missense_variant L3822F 11464C>T ESCA-CN 17 78335650 78335650 single base substitution C T upstream_gene_variant ESCA-CN 17 78336945 78336945 single base substitution C T downstream_gene_variant ESCA-CN 17 78336945 78336945 single base substitution C T exon_variant ESCA-CN 17 78336945 78336945 single base substitution C T missense_variant A1873V 5618C>T ESCA-CN 17 78336945 78336945 single base substitution C T missense_variant A3800V 11399C>T ESCA-CN 17 78336945 78336945 single base substitution C T missense_variant A3849V 11546C>T ESCA-CN 17 78336945 78336945 single base substitution C T upstream_gene_variant ESCA-CN 17 78357623 78357623 single base substitution G C downstream_gene_variant ESCA-CN 17 78357623 78357623 single base substitution G C exon_variant ESCA-CN 17 78357623 78357623 single base substitution G C missense_variant K2812N 8436G>C ESCA-CN 17 78357623 78357623 single base substitution G C missense_variant K4739N 14217G>C ESCA-CN 17 78357623 78357623 single base substitution G C missense_variant K4788N 14364G>C ESCA-CN 17 78357623 78357623 single base substitution G C upstream_gene_variant GBM-US 17 78262155 78262155 single base substitution C G exon_variant GBM-US 17 78262155 78262155 single base substitution C G missense_variant A268G 803C>G GBM-US 17 78262155 78262155 single base substitution C G missense_variant A317G 950C>G GBM-US 17 78262155 78262155 single base substitution C G upstream_gene_variant GBM-US 17 78282912 78282912 single base substitution G T exon_variant GBM-US 17 78282912 78282912 single base substitution G T stop_gained E866* 2596G>T GBM-US 17 78282912 78282912 single base substitution G T stop_gained E915* 2743G>T GBM-US 17 78355436 78355436 single base substitution G A downstream_gene_variant GBM-US 17 78355436 78355436 single base substitution G A exon_variant GBM-US 17 78355436 78355436 single base substitution G A synonymous_variant K2702K 8106G>A GBM-US 17 78355436 78355436 single base substitution G A synonymous_variant K4629K 13887G>A GBM-US 17 78355436 78355436 single base substitution G A synonymous_variant K4678K 14034G>A GBM-US 17 78355436 78355436 single base substitution G A upstream_gene_variant KIRC-US 17 78321744 78321744 single base substitution A G synonymous_variant A1276A 3828A>G KIRC-US 17 78321744 78321744 single base substitution A G synonymous_variant A3203A 9609A>G KIRC-US 17 78321744 78321744 single base substitution A G synonymous_variant A3252A 9756A>G KIRC-US 17 78328249 78328249 single base substitution T C exon_variant KIRC-US 17 78328249 78328249 single base substitution T C synonymous_variant L1652L 4954T>C KIRC-US 17 78328249 78328249 single base substitution T C synonymous_variant L3579L 10735T>C KIRC-US 17 78328249 78328249 single base substitution T C synonymous_variant L3628L 10882T>C KIRC-US 17 78328249 78328249 single base substitution T C upstream_gene_variant KIRC-US 17 78337077 78337077 single base substitution A C downstream_gene_variant KIRC-US 17 78337077 78337077 single base substitution A C exon_variant KIRC-US 17 78337077 78337077 single base substitution A C missense_variant E1917A 5750A>C KIRC-US 17 78337077 78337077 single base substitution A C missense_variant E3844A 11531A>C KIRC-US 17 78337077 78337077 single base substitution A C missense_variant E3893A 11678A>C KIRC-US 17 78337077 78337077 single base substitution A C upstream_gene_variant KIRC-US 17 78337081 78337081 single base substitution C G downstream_gene_variant KIRC-US 17 78337081 78337081 single base substitution C G exon_variant KIRC-US 17 78337081 78337081 single base substitution C G synonymous_variant A1918A 5754C>G KIRC-US 17 78337081 78337081 single base substitution C G synonymous_variant A3845A 11535C>G KIRC-US 17 78337081 78337081 single base substitution C G synonymous_variant A3894A 11682C>G KIRC-US 17 78337081 78337081 single base substitution C G upstream_gene_variant KIRC-US 17 78343583 78343583 insertion of <=200bp - A downstream_gene_variant KIRC-US 17 78343583 78343583 insertion of <=200bp - A exon_variant KIRC-US 17 78343583 78343583 insertion of <=200bp - A frameshift_variant T2187N? KIRC-US 17 78343583 78343583 insertion of <=200bp - A frameshift_variant T4114N? KIRC-US 17 78343583 78343583 insertion of <=200bp - A frameshift_variant T4163N? KIRC-US 17 78343583 78343583 insertion of <=200bp - A upstream_gene_variant KIRP-US 17 78293016 78293016 single base substitution C G exon_variant KIRP-US 17 78293016 78293016 single base substitution C G synonymous_variant A1025A 3075C>G KIRP-US 17 78293016 78293016 single base substitution C G synonymous_variant A976A 2928C>G KIRP-US 17 78321576 78321576 single base substitution C T synonymous_variant R1220R 3660C>T KIRP-US 17 78321576 78321576 single base substitution C T synonymous_variant R3147R 9441C>T KIRP-US 17 78321576 78321576 single base substitution C T synonymous_variant R3196R 9588C>T KIRP-US 17 78321624 78321624 deletion of <=200bp C - frameshift_variant I1236 KIRP-US 17 78321624 78321624 deletion of <=200bp C - frameshift_variant I3163 KIRP-US 17 78321624 78321624 deletion of <=200bp C - frameshift_variant I3212 KIRP-US 17 78350139 78350141 deletion of <=200bp GAT - disruptive_inframe_deletion KI2481N KIRP-US 17 78350139 78350141 deletion of <=200bp GAT - disruptive_inframe_deletion KI4408N KIRP-US 17 78350139 78350141 deletion of <=200bp GAT - disruptive_inframe_deletion KI4457N KIRP-US 17 78350139 78350141 deletion of <=200bp GAT - downstream_gene_variant KIRP-US 17 78350139 78350141 deletion of <=200bp GAT - exon_variant KIRP-US 17 78350139 78350141 deletion of <=200bp GAT - upstream_gene_variant KIRP-US 17 78355391 78355391 single base substitution C G downstream_gene_variant KIRP-US 17 78355391 78355391 single base substitution C G exon_variant KIRP-US 17 78355391 78355391 single base substitution C G synonymous_variant G2687G 8061C>G KIRP-US 17 78355391 78355391 single base substitution C G synonymous_variant G4614G 13842C>G KIRP-US 17 78355391 78355391 single base substitution C G synonymous_variant G4663G 13989C>G KIRP-US 17 78355391 78355391 single base substitution C G upstream_gene_variant LAML-KR 17 78245757 78245757 single base substitution T C intron_variant LAML-KR 17 78245766 78245766 single base substitution G A intron_variant LAML-KR 17 78245773 78245773 single base substitution C T intron_variant LAML-KR 17 78264281 78264281 single base substitution C T intron_variant LAML-KR 17 78279430 78279430 single base substitution G T intron_variant LAML-KR 17 78288008 78288008 single base substitution A C intron_variant LAML-KR 17 78328049 78328049 single base substitution G A intron_variant LAML-KR 17 78328049 78328049 single base substitution G A upstream_gene_variant LGG-US 17 78320934 78320934 single base substitution G A synonymous_variant A1006A 3018G>A LGG-US 17 78320934 78320934 single base substitution G A synonymous_variant A2933A 8799G>A LGG-US 17 78320934 78320934 single base substitution G A synonymous_variant A2982A 8946G>A LGG-US 17 78345780 78345780 single base substitution C A exon_variant LGG-US 17 78345780 78345780 single base substitution C A missense_variant L2251M 6751C>A LGG-US 17 78345780 78345780 single base substitution C A missense_variant L4178M 12532C>A LGG-US 17 78345780 78345780 single base substitution C A missense_variant L4227M 12679C>A LGG-US 17 78345780 78345780 single base substitution C A upstream_gene_variant LGG-US 17 78354716 78354716 single base substitution C T downstream_gene_variant LGG-US 17 78354716 78354716 single base substitution C T exon_variant LGG-US 17 78354716 78354716 single base substitution C T missense_variant P2649S 7945C>T LGG-US 17 78354716 78354716 single base substitution C T missense_variant P4576S 13726C>T LGG-US 17 78354716 78354716 single base substitution C T missense_variant P4625S 13873C>T LGG-US 17 78354716 78354716 single base substitution C T upstream_gene_variant LIAD-FR 17 78356811 78356811 single base substitution A G downstream_gene_variant LIAD-FR 17 78356811 78356811 single base substitution A G exon_variant LIAD-FR 17 78356811 78356811 single base substitution A G missense_variant K2744E 8230A>G LIAD-FR 17 78356811 78356811 single base substitution A G missense_variant K4671E 14011A>G LIAD-FR 17 78356811 78356811 single base substitution A G missense_variant K4720E 14158A>G LIAD-FR 17 78356811 78356811 single base substitution A G upstream_gene_variant LICA-CN 17 78237498 78237498 single base substitution C G missense_variant C6W 18C>G LICA-CN 17 78268786 78268786 single base substitution A G downstream_gene_variant LICA-CN 17 78268786 78268786 single base substitution A G exon_variant LICA-CN 17 78268786 78268786 single base substitution A G missense_variant Q580R 1739A>G LICA-CN 17 78268786 78268786 single base substitution A G missense_variant Q629R 1886A>G LICA-CN 17 78268786 78268786 single base substitution A G upstream_gene_variant LICA-CN 17 78293179 78293179 single base substitution A T intron_variant LICA-CN 17 78293179 78293179 single base substitution A T missense_variant R1031W 3091A>T LICA-CN 17 78325542 78325542 single base substitution C G synonymous_variant V1487V 4461C>G LICA-CN 17 78325542 78325542 single base substitution C G synonymous_variant V3414V 10242C>G LICA-CN 17 78325542 78325542 single base substitution C G synonymous_variant V3463V 10389C>G LICA-CN 17 78325542 78325542 single base substitution C G upstream_gene_variant LICA-CN 17 78337516 78337516 single base substitution G T downstream_gene_variant LICA-CN 17 78337516 78337516 single base substitution G T exon_variant LICA-CN 17 78337516 78337516 single base substitution G T synonymous_variant P1965P 5895G>T LICA-CN 17 78337516 78337516 single base substitution G T synonymous_variant P3892P 11676G>T LICA-CN 17 78337516 78337516 single base substitution G T synonymous_variant P3941P 11823G>T LICA-FR 17 78230558 78230558 single base substitution C G upstream_gene_variant LICA-FR 17 78238035 78238035 single base substitution A C intron_variant LICA-FR 17 78245806 78245806 single base substitution G T intron_variant LICA-FR 17 78254111 78254111 single base substitution C T intron_variant LICA-FR 17 78256530 78256530 single base substitution C G intron_variant LICA-FR 17 78262076 78262076 single base substitution C T exon_variant LICA-FR 17 78262076 78262076 single base substitution C T synonymous_variant L242L 724C>T LICA-FR 17 78262076 78262076 single base substitution C T synonymous_variant L291L 871C>T LICA-FR 17 78262076 78262076 single base substitution C T upstream_gene_variant LICA-FR 17 78266949 78266949 single base substitution A T downstream_gene_variant LICA-FR 17 78266949 78266949 single base substitution A T intron_variant LICA-FR 17 78266949 78266949 single base substitution A T upstream_gene_variant LICA-FR 17 78273335 78273335 insertion of <=200bp - TTTATTTA downstream_gene_variant LICA-FR 17 78273335 78273335 insertion of <=200bp - TTTATTTA intron_variant LICA-FR 17 78276106 78276106 single base substitution G T downstream_gene_variant LICA-FR 17 78276106 78276106 single base substitution G T intron_variant LICA-FR 17 78283663 78283663 single base substitution C A intron_variant LICA-FR 17 78287380 78287380 insertion of <=200bp - GGTGGTGGAGGTGATGGT intron_variant LICA-FR 17 78287441 78287441 single base substitution A G intron_variant LICA-FR 17 78287630 78287630 single base substitution G A intron_variant LICA-FR 17 78287843 78287843 single base substitution G A intron_variant LICA-FR 17 78288103 78288103 single base substitution C G intron_variant LICA-FR 17 78288119 78288119 single base substitution A C intron_variant LICA-FR 17 78302100 78302100 single base substitution T A intron_variant LICA-FR 17 78313011 78313011 single base substitution G C downstream_gene_variant LICA-FR 17 78313011 78313011 single base substitution G C exon_variant LICA-FR 17 78313011 78313011 single base substitution G C missense_variant S1615T 4844G>C LICA-FR 17 78313011 78313011 single base substitution G C missense_variant S1664T 4991G>C LICA-FR 17 78313011 78313011 single base substitution G C upstream_gene_variant LICA-FR 17 78314125 78314125 single base substitution T C downstream_gene_variant LICA-FR 17 78314125 78314125 single base substitution T C synonymous_variant V1986V 5958T>C LICA-FR 17 78314125 78314125 single base substitution T C synonymous_variant V2035V 6105T>C LICA-FR 17 78314125 78314125 single base substitution T C synonymous_variant V59V 177T>C LICA-FR 17 78316172 78316172 single base substitution C G downstream_gene_variant LICA-FR 17 78316172 78316172 single base substitution C G intron_variant LICA-FR 17 78319332 78319332 single base substitution T C synonymous_variant N2399N 7197T>C LICA-FR 17 78319332 78319332 single base substitution T C synonymous_variant N2448N 7344T>C LICA-FR 17 78319332 78319332 single base substitution T C synonymous_variant N472N 1416T>C LICA-FR 17 78320289 78320289 single base substitution C A missense_variant S2718R 8154C>A LICA-FR 17 78320289 78320289 single base substitution C A missense_variant S2767R 8301C>A LICA-FR 17 78320289 78320289 single base substitution C A missense_variant S791R 2373C>A LICA-FR 17 78326895 78326895 single base substitution G A intron_variant LICA-FR 17 78326895 78326895 single base substitution G A upstream_gene_variant LICA-FR 17 78329214 78329214 single base substitution C T intron_variant LICA-FR 17 78329343 78329343 single base substitution A C intron_variant LICA-FR 17 78332273 78332273 single base substitution A G exon_variant LICA-FR 17 78332273 78332273 single base substitution A G missense_variant N1756S 5267A>G LICA-FR 17 78332273 78332273 single base substitution A G missense_variant N3683S 11048A>G LICA-FR 17 78332273 78332273 single base substitution A G missense_variant N3732S 11195A>G LICA-FR 17 78332273 78332273 single base substitution A G upstream_gene_variant LICA-FR 17 78337556 78337556 single base substitution G A downstream_gene_variant LICA-FR 17 78337556 78337556 single base substitution G A exon_variant LICA-FR 17 78337556 78337556 single base substitution G A missense_variant G1979R 5935G>A LICA-FR 17 78337556 78337556 single base substitution G A missense_variant G3906R 11716G>A LICA-FR 17 78337556 78337556 single base substitution G A missense_variant G3955R 11863G>A LICA-FR 17 78341070 78341070 single base substitution G C downstream_gene_variant LICA-FR 17 78341070 78341070 single base substitution G C intron_variant LICA-FR 17 78341070 78341070 single base substitution G C upstream_gene_variant LICA-FR 17 78356811 78356811 single base substitution A G downstream_gene_variant LICA-FR 17 78356811 78356811 single base substitution A G exon_variant LICA-FR 17 78356811 78356811 single base substitution A G missense_variant K2744E 8230A>G LICA-FR 17 78356811 78356811 single base substitution A G missense_variant K4671E 14011A>G LICA-FR 17 78356811 78356811 single base substitution A G missense_variant K4720E 14158A>G LICA-FR 17 78356811 78356811 single base substitution A G upstream_gene_variant LICA-FR 17 78367193 78367193 single base substitution T C downstream_gene_variant LICA-FR 17 78367193 78367193 single base substitution T C exon_variant LICA-FR 17 78367193 78367193 single base substitution T C synonymous_variant I3246I 9738T>C LICA-FR 17 78367193 78367193 single base substitution T C synonymous_variant I5173I 15519T>C LICA-FR 17 78367193 78367193 single base substitution T C synonymous_variant I5222I 15666T>C LIHC-US 17 78319225 78319225 single base substitution G A missense_variant D2364N 7090G>A LIHC-US 17 78319225 78319225 single base substitution G A missense_variant D2413N 7237G>A LIHC-US 17 78319225 78319225 single base substitution G A missense_variant D437N 1309G>A LIHC-US 17 78319696 78319696 single base substitution A G missense_variant I2521V 7561A>G LIHC-US 17 78319696 78319696 single base substitution A G missense_variant I2570V 7708A>G LIHC-US 17 78319696 78319696 single base substitution A G missense_variant I594V 1780A>G LIHC-US 17 78328292 78328292 single base substitution A G exon_variant LIHC-US 17 78328292 78328292 single base substitution A G missense_variant Q1666R 4997A>G LIHC-US 17 78328292 78328292 single base substitution A G missense_variant Q3593R 10778A>G LIHC-US 17 78328292 78328292 single base substitution A G missense_variant Q3642R 10925A>G LIHC-US 17 78328357 78328357 single base substitution C A exon_variant LIHC-US 17 78328357 78328357 single base substitution C A missense_variant Q1688K 5062C>A LIHC-US 17 78328357 78328357 single base substitution C A missense_variant Q3615K 10843C>A LIHC-US 17 78328357 78328357 single base substitution C A missense_variant Q3664K 10990C>A LIHC-US 17 78336932 78336932 single base substitution A G downstream_gene_variant LIHC-US 17 78336932 78336932 single base substitution A G exon_variant LIHC-US 17 78336932 78336932 single base substitution A G missense_variant R1869G 5605A>G LIHC-US 17 78336932 78336932 single base substitution A G missense_variant R3796G 11386A>G LIHC-US 17 78336932 78336932 single base substitution A G missense_variant R3845G 11533A>G LIHC-US 17 78336932 78336932 single base substitution A G upstream_gene_variant LIHC-US 17 78341922 78341922 single base substitution C A downstream_gene_variant LIHC-US 17 78341922 78341922 single base substitution C A exon_variant LIHC-US 17 78341922 78341922 single base substitution C A missense_variant P2118Q 6353C>A LIHC-US 17 78341922 78341922 single base substitution C A missense_variant P4045Q 12134C>A LIHC-US 17 78341922 78341922 single base substitution C A missense_variant P4094Q 12281C>A LIHC-US 17 78341922 78341922 single base substitution C A upstream_gene_variant LIHC-US 17 78346832 78346832 single base substitution T C exon_variant LIHC-US 17 78346832 78346832 single base substitution T C missense_variant V2343A 7028T>C LIHC-US 17 78346832 78346832 single base substitution T C missense_variant V4270A 12809T>C LIHC-US 17 78346832 78346832 single base substitution T C missense_variant V4319A 12956T>C LIHC-US 17 78346832 78346832 single base substitution T C upstream_gene_variant LINC-JP 17 78250706 78250706 single base substitution A T intron_variant LINC-JP 17 78252605 78252605 single base substitution A T intron_variant LINC-JP 17 78252605 78252605 single base substitution A T missense_variant I102L 304A>T LINC-JP 17 78258350 78258350 single base substitution G A intron_variant LINC-JP 17 78258350 78258350 single base substitution G A upstream_gene_variant LINC-JP 17 78262429 78262429 single base substitution C G splice_region_variant LINC-JP 17 78262429 78262429 single base substitution C G upstream_gene_variant LINC-JP 17 78265593 78265593 single base substitution C A exon_variant LINC-JP 17 78265593 78265593 single base substitution C A missense_variant L480M 1438C>A LINC-JP 17 78265593 78265593 single base substitution C A missense_variant L529M 1585C>A LINC-JP 17 78265593 78265593 single base substitution C A upstream_gene_variant LINC-JP 17 78273207 78273207 single base substitution C G downstream_gene_variant LINC-JP 17 78273207 78273207 single base substitution C G intron_variant LINC-JP 17 78282752 78282752 single base substitution A G intron_variant LINC-JP 17 78283500 78283500 single base substitution C T intron_variant LINC-JP 17 78295923 78295923 single base substitution T A downstream_gene_variant LINC-JP 17 78295923 78295923 single base substitution T A intron_variant LINC-JP 17 78308055 78308055 single base substitution C T exon_variant LINC-JP 17 78308055 78308055 single base substitution C T missense_variant R1432W 4294C>T LINC-JP 17 78308055 78308055 single base substitution C T missense_variant R1481W 4441C>T LINC-JP 17 78308055 78308055 single base substitution C T upstream_gene_variant LINC-JP 17 78319421 78319423 deletion of <=200bp TTA - inframe_deletion LI2429L LINC-JP 17 78319421 78319423 deletion of <=200bp TTA - inframe_deletion LI2478L LINC-JP 17 78319421 78319423 deletion of <=200bp TTA - inframe_deletion LI502L LINC-JP 17 78324141 78324141 single base substitution T G missense_variant F1450V 4348T>G LINC-JP 17 78324141 78324141 single base substitution T G missense_variant F3377V 10129T>G LINC-JP 17 78324141 78324141 single base substitution T G missense_variant F3426V 10276T>G LINC-JP 17 78324141 78324141 single base substitution T G upstream_gene_variant LINC-JP 17 78325474 78325474 single base substitution T C intron_variant LINC-JP 17 78325474 78325474 single base substitution T C upstream_gene_variant LINC-JP 17 78326838 78326838 single base substitution G A missense_variant A1541T 4621G>A LINC-JP 17 78326838 78326838 single base substitution G A missense_variant A3468T 10402G>A LINC-JP 17 78326838 78326838 single base substitution G A missense_variant A3517T 10549G>A LINC-JP 17 78326838 78326838 single base substitution G A upstream_gene_variant LINC-JP 17 78332310 78332310 single base substitution A G intron_variant LINC-JP 17 78332310 78332310 single base substitution A G upstream_gene_variant LINC-JP 17 78338156 78338156 single base substitution C T downstream_gene_variant LINC-JP 17 78338156 78338156 single base substitution C T intron_variant LINC-JP 17 78342156 78342156 single base substitution C T downstream_gene_variant LINC-JP 17 78342156 78342156 single base substitution C T intron_variant LINC-JP 17 78342156 78342156 single base substitution C T upstream_gene_variant LINC-JP 17 78343411 78343411 single base substitution A T downstream_gene_variant LINC-JP 17 78343411 78343411 single base substitution A T exon_variant LINC-JP 17 78343411 78343411 single base substitution A T missense_variant I2162F 6484A>T LINC-JP 17 78343411 78343411 single base substitution A T missense_variant I4089F 12265A>T LINC-JP 17 78343411 78343411 single base substitution A T missense_variant I4138F 12412A>T LINC-JP 17 78343411 78343411 single base substitution A T upstream_gene_variant LINC-JP 17 78346190 78346190 single base substitution A G intron_variant LINC-JP 17 78346190 78346190 single base substitution A G upstream_gene_variant LINC-JP 17 78348186 78348186 deletion of <=200bp T - intron_variant LINC-JP 17 78348186 78348186 deletion of <=200bp T - upstream_gene_variant LINC-JP 17 78350158 78350158 single base substitution A G downstream_gene_variant LINC-JP 17 78350158 78350158 single base substitution A G exon_variant LINC-JP 17 78350158 78350158 single base substitution A G missense_variant I2488V 7462A>G LINC-JP 17 78350158 78350158 single base substitution A G missense_variant I4415V 13243A>G LINC-JP 17 78350158 78350158 single base substitution A G missense_variant I4464V 13390A>G LINC-JP 17 78350158 78350158 single base substitution A G upstream_gene_variant LINC-JP 17 78353669 78353669 single base substitution G T downstream_gene_variant LINC-JP 17 78353669 78353669 single base substitution G T intron_variant LINC-JP 17 78353669 78353669 single base substitution G T upstream_gene_variant LINC-JP 17 78357853 78357853 single base substitution A G downstream_gene_variant LINC-JP 17 78357853 78357853 single base substitution A G intron_variant LINC-JP 17 78357853 78357853 single base substitution A G upstream_gene_variant LIRI-JP 17 78235734 78235734 single base substitution A G intron_variant LIRI-JP 17 78236221 78236221 single base substitution G A intron_variant LIRI-JP 17 78236534 78236534 single base substitution C G intron_variant LIRI-JP 17 78238427 78238427 single base substitution A G intron_variant LIRI-JP 17 78239107 78239107 single base substitution A T intron_variant LIRI-JP 17 78240286 78240286 single base substitution A C intron_variant LIRI-JP 17 78243620 78243620 single base substitution A G intron_variant LIRI-JP 17 78244836 78244836 single base substitution A G intron_variant LIRI-JP 17 78245350 78245350 single base substitution C T intron_variant LIRI-JP 17 78247032 78247032 single base substitution C T splice_region_variant LIRI-JP 17 78249916 78249916 single base substitution T A intron_variant LIRI-JP 17 78251572 78251572 single base substitution A G intron_variant LIRI-JP 17 78254205 78254205 single base substitution A G intron_variant LIRI-JP 17 78254626 78254626 single base substitution A G intron_variant LIRI-JP 17 78260864 78260864 single base substitution A G intron_variant LIRI-JP 17 78260864 78260864 single base substitution A G upstream_gene_variant LIRI-JP 17 78262202 78262202 single base substitution G A intron_variant LIRI-JP 17 78262202 78262202 single base substitution G A upstream_gene_variant LIRI-JP 17 78266858 78266858 single base substitution A G downstream_gene_variant LIRI-JP 17 78266858 78266858 single base substitution A G intron_variant LIRI-JP 17 78266858 78266858 single base substitution A G upstream_gene_variant LIRI-JP 17 78269002 78269002 single base substitution C T downstream_gene_variant LIRI-JP 17 78269002 78269002 single base substitution C T intron_variant LIRI-JP 17 78269002 78269002 single base substitution C T upstream_gene_variant LIRI-JP 17 78270752 78270752 single base substitution T C downstream_gene_variant LIRI-JP 17 78270752 78270752 single base substitution T C intron_variant LIRI-JP 17 78271459 78271459 single base substitution C A intron_variant LIRI-JP 17 78273670 78273670 single base substitution A G downstream_gene_variant LIRI-JP 17 78273670 78273670 single base substitution A G intron_variant LIRI-JP 17 78274390 78274390 single base substitution A G downstream_gene_variant LIRI-JP 17 78274390 78274390 single base substitution A G intron_variant LIRI-JP 17 78275016 78275016 single base substitution A G downstream_gene_variant LIRI-JP 17 78275016 78275016 single base substitution A G intron_variant LIRI-JP 17 78275808 78275808 single base substitution C T downstream_gene_variant LIRI-JP 17 78275808 78275808 single base substitution C T intron_variant LIRI-JP 17 78275830 78275830 single base substitution G T downstream_gene_variant LIRI-JP 17 78275830 78275830 single base substitution G T intron_variant LIRI-JP 17 78276244 78276244 single base substitution A G downstream_gene_variant LIRI-JP 17 78276244 78276244 single base substitution A G intron_variant LIRI-JP 17 78278593 78278593 single base substitution T C intron_variant LIRI-JP 17 78281772 78281772 single base substitution A G intron_variant LIRI-JP 17 78290626 78290626 single base substitution C G intron_variant LIRI-JP 17 78294142 78294142 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 78294142 78294142 single base substitution T G intron_variant LIRI-JP 17 78294853 78294853 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 78294853 78294853 single base substitution A G intron_variant LIRI-JP 17 78296577 78296577 single base substitution A G downstream_gene_variant LIRI-JP 17 78296577 78296577 single base substitution A G intron_variant LIRI-JP 17 78298106 78298106 single base substitution A T downstream_gene_variant LIRI-JP 17 78298106 78298106 single base substitution A T intron_variant LIRI-JP 17 78299488 78299489 deletion of <=200bp CG - downstream_gene_variant LIRI-JP 17 78299488 78299489 deletion of <=200bp CG - intron_variant LIRI-JP 17 78299779 78299779 single base substitution G C downstream_gene_variant LIRI-JP 17 78299779 78299779 single base substitution G C intron_variant LIRI-JP 17 78300004 78300004 single base substitution A T downstream_gene_variant LIRI-JP 17 78300004 78300004 single base substitution A T intron_variant LIRI-JP 17 78300675 78300675 single base substitution G A intron_variant LIRI-JP 17 78301946 78301946 single base substitution A G intron_variant LIRI-JP 17 78303510 78303510 single base substitution A G intron_variant LIRI-JP 17 78304457 78304457 single base substitution T C intron_variant LIRI-JP 17 78306613 78306613 single base substitution T G intron_variant LIRI-JP 17 78306613 78306613 single base substitution T G upstream_gene_variant LIRI-JP 17 78306936 78306936 single base substitution C A intron_variant LIRI-JP 17 78306936 78306936 single base substitution C A upstream_gene_variant LIRI-JP 17 78309890 78309890 single base substitution T G intron_variant LIRI-JP 17 78309890 78309890 single base substitution T G upstream_gene_variant LIRI-JP 17 78319411 78319411 deletion of <=200bp A - frameshift_variant K2426 LIRI-JP 17 78319411 78319411 deletion of <=200bp A - frameshift_variant K2475 LIRI-JP 17 78319411 78319411 deletion of <=200bp A - frameshift_variant K499 LIRI-JP 17 78320109 78320109 single base substitution C G synonymous_variant L2658L 7974C>G LIRI-JP 17 78320109 78320109 single base substitution C G synonymous_variant L2707L 8121C>G LIRI-JP 17 78320109 78320109 single base substitution C G synonymous_variant L731L 2193C>G LIRI-JP 17 78321472 78321472 single base substitution T C missense_variant Y1186H 3556T>C LIRI-JP 17 78321472 78321472 single base substitution T C missense_variant Y3113H 9337T>C LIRI-JP 17 78321472 78321472 single base substitution T C missense_variant Y3162H 9484T>C LIRI-JP 17 78321653 78321653 single base substitution A G missense_variant Y1246C 3737A>G LIRI-JP 17 78321653 78321653 single base substitution A G missense_variant Y3173C 9518A>G LIRI-JP 17 78321653 78321653 single base substitution A G missense_variant Y3222C 9665A>G LIRI-JP 17 78321713 78321713 single base substitution C T missense_variant A1266V 3797C>T LIRI-JP 17 78321713 78321713 single base substitution C T missense_variant A3193V 9578C>T LIRI-JP 17 78321713 78321713 single base substitution C T missense_variant A3242V 9725C>T LIRI-JP 17 78324392 78324392 single base substitution A T intron_variant LIRI-JP 17 78324392 78324392 single base substitution A T upstream_gene_variant LIRI-JP 17 78327583 78327583 single base substitution A T intron_variant LIRI-JP 17 78327583 78327583 single base substitution A T upstream_gene_variant LIRI-JP 17 78329028 78329028 single base substitution T G intron_variant LIRI-JP 17 78330601 78330601 single base substitution T A intron_variant LIRI-JP 17 78334163 78334163 single base substitution C T exon_variant LIRI-JP 17 78334163 78334163 single base substitution C T intron_variant LIRI-JP 17 78334163 78334163 single base substitution C T upstream_gene_variant LIRI-JP 17 78339274 78339281 deletion of <=200bp CCCCGTGG - downstream_gene_variant LIRI-JP 17 78339274 78339281 deletion of <=200bp CCCCGTGG - intron_variant LIRI-JP 17 78339596 78339596 single base substitution C T downstream_gene_variant LIRI-JP 17 78339596 78339596 single base substitution C T intron_variant LIRI-JP 17 78340995 78340995 single base substitution A G downstream_gene_variant LIRI-JP 17 78340995 78340995 single base substitution A G intron_variant LIRI-JP 17 78340995 78340995 single base substitution A G upstream_gene_variant LIRI-JP 17 78342108 78342108 single base substitution T A downstream_gene_variant LIRI-JP 17 78342108 78342108 single base substitution T A intron_variant LIRI-JP 17 78342108 78342108 single base substitution T A upstream_gene_variant LIRI-JP 17 78344317 78344317 single base substitution A C intron_variant LIRI-JP 17 78344317 78344317 single base substitution A C upstream_gene_variant LIRI-JP 17 78345734 78345734 single base substitution C A exon_variant LIRI-JP 17 78345734 78345734 single base substitution C A missense_variant F2235L 6705C>A LIRI-JP 17 78345734 78345734 single base substitution C A missense_variant F4162L 12486C>A LIRI-JP 17 78345734 78345734 single base substitution C A missense_variant F4211L 12633C>A LIRI-JP 17 78345734 78345734 single base substitution C A upstream_gene_variant LIRI-JP 17 78345735 78345735 single base substitution A G exon_variant LIRI-JP 17 78345735 78345735 single base substitution A G missense_variant I2236V 6706A>G LIRI-JP 17 78345735 78345735 single base substitution A G missense_variant I4163V 12487A>G LIRI-JP 17 78345735 78345735 single base substitution A G missense_variant I4212V 12634A>G LIRI-JP 17 78345735 78345735 single base substitution A G upstream_gene_variant LIRI-JP 17 78353645 78353645 single base substitution A C downstream_gene_variant LIRI-JP 17 78353645 78353645 single base substitution A C intron_variant LIRI-JP 17 78353645 78353645 single base substitution A C upstream_gene_variant LIRI-JP 17 78357814 78357814 single base substitution A T downstream_gene_variant LIRI-JP 17 78357814 78357814 single base substitution A T intron_variant LIRI-JP 17 78357814 78357814 single base substitution A T upstream_gene_variant LIRI-JP 17 78362761 78362761 single base substitution C T downstream_gene_variant LIRI-JP 17 78362761 78362761 single base substitution C T exon_variant LIRI-JP 17 78362761 78362761 single base substitution C T intron_variant LIRI-JP 17 78363703 78363703 single base substitution C A downstream_gene_variant LIRI-JP 17 78363703 78363703 single base substitution C A exon_variant LIRI-JP 17 78363703 78363703 single base substitution C A missense_variant L3164M 9490C>A LIRI-JP 17 78363703 78363703 single base substitution C A missense_variant L5091M 15271C>A LIRI-JP 17 78363703 78363703 single base substitution C A missense_variant L5140M 15418C>A LIRI-JP 17 78366047 78366047 single base substitution A G downstream_gene_variant LIRI-JP 17 78366047 78366047 single base substitution A G intron_variant LIRI-JP 17 78366171 78366171 single base substitution G A downstream_gene_variant LIRI-JP 17 78366171 78366171 single base substitution G A intron_variant LIRI-JP 17 78366528 78366528 single base substitution T G downstream_gene_variant LIRI-JP 17 78366528 78366528 single base substitution T G intron_variant LIRI-JP 17 78366735 78366735 single base substitution C T downstream_gene_variant LIRI-JP 17 78366735 78366735 single base substitution C T intron_variant LIRI-JP 17 78368048 78368048 single base substitution A C 3_prime_UTR_variant LIRI-JP 17 78368048 78368048 single base substitution A C downstream_gene_variant LIRI-JP 17 78368048 78368048 single base substitution A C exon_variant LIRI-JP 17 78372160 78372160 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 78372160 78372160 single base substitution C T downstream_gene_variant LIRI-JP 17 78373955 78373955 single base substitution G T downstream_gene_variant LIRI-JP 17 78375349 78375349 single base substitution A G downstream_gene_variant LIRI-JP 17 78375576 78375576 single base substitution A C downstream_gene_variant LIRI-JP 17 78376004 78376004 single base substitution C T downstream_gene_variant LIRI-JP 17 78376266 78376266 single base substitution T A downstream_gene_variant LIRI-JP 17 78377470 78377470 single base substitution A G downstream_gene_variant LUSC-KR 17 78232917 78232917 single base substitution A G upstream_gene_variant LUSC-KR 17 78236723 78236723 single base substitution C G intron_variant LUSC-KR 17 78238847 78238847 single base substitution T G intron_variant LUSC-KR 17 78246044 78246044 single base substitution C G intron_variant LUSC-KR 17 78246383 78246383 single base substitution C T intron_variant LUSC-KR 17 78247020 78247020 single base substitution T G intron_variant LUSC-KR 17 78247230 78247230 single base substitution C T intron_variant LUSC-KR 17 78249659 78249659 single base substitution C T intron_variant LUSC-KR 17 78251382 78251382 single base substitution G T intron_variant LUSC-KR 17 78253425 78253425 single base substitution G A intron_variant LUSC-KR 17 78253763 78253763 single base substitution G T intron_variant LUSC-KR 17 78261805 78261805 single base substitution A G exon_variant LUSC-KR 17 78261805 78261805 single base substitution A G synonymous_variant P151P 453A>G LUSC-KR 17 78261805 78261805 single base substitution A G synonymous_variant P200P 600A>G LUSC-KR 17 78261805 78261805 single base substitution A G upstream_gene_variant LUSC-KR 17 78262175 78262175 single base substitution G T intron_variant LUSC-KR 17 78262175 78262175 single base substitution G T upstream_gene_variant LUSC-KR 17 78263920 78263920 single base substitution A G intron_variant LUSC-KR 17 78264546 78264546 single base substitution T G intron_variant LUSC-KR 17 78264546 78264546 single base substitution T G upstream_gene_variant LUSC-KR 17 78267674 78267674 single base substitution G A downstream_gene_variant LUSC-KR 17 78267674 78267674 single base substitution G A intron_variant LUSC-KR 17 78267674 78267674 single base substitution G A upstream_gene_variant LUSC-KR 17 78267777 78267777 single base substitution C G downstream_gene_variant LUSC-KR 17 78267777 78267777 single base substitution C G intron_variant LUSC-KR 17 78267777 78267777 single base substitution C G upstream_gene_variant LUSC-KR 17 78268230 78268230 single base substitution G C downstream_gene_variant LUSC-KR 17 78268230 78268230 single base substitution G C intron_variant LUSC-KR 17 78268230 78268230 single base substitution G C upstream_gene_variant LUSC-KR 17 78276055 78276055 single base substitution C G downstream_gene_variant LUSC-KR 17 78276055 78276055 single base substitution C G intron_variant LUSC-KR 17 78279430 78279430 single base substitution G T intron_variant LUSC-KR 17 78280030 78280030 single base substitution C T intron_variant LUSC-KR 17 78281088 78281088 single base substitution G T intron_variant LUSC-KR 17 78281140 78281140 single base substitution C G intron_variant LUSC-KR 17 78281555 78281555 single base substitution G T intron_variant LUSC-KR 17 78282261 78282261 single base substitution C G intron_variant LUSC-KR 17 78282660 78282660 single base substitution C G intron_variant LUSC-KR 17 78286986 78286986 single base substitution G C intron_variant LUSC-KR 17 78287648 78287648 single base substitution C A intron_variant LUSC-KR 17 78289299 78289299 single base substitution T A intron_variant LUSC-KR 17 78289336 78289336 single base substitution G A intron_variant LUSC-KR 17 78289347 78289347 single base substitution T C intron_variant LUSC-KR 17 78289373 78289373 single base substitution A C intron_variant LUSC-KR 17 78290883 78290883 single base substitution C G intron_variant LUSC-KR 17 78292969 78292969 single base substitution A G intron_variant LUSC-KR 17 78304169 78304169 single base substitution G C intron_variant LUSC-KR 17 78308408 78308408 single base substitution A C intron_variant LUSC-KR 17 78308408 78308408 single base substitution A C upstream_gene_variant LUSC-KR 17 78309919 78309919 single base substitution G T intron_variant LUSC-KR 17 78309919 78309919 single base substitution G T upstream_gene_variant LUSC-KR 17 78311915 78311915 single base substitution C G downstream_gene_variant LUSC-KR 17 78311915 78311915 single base substitution C G intron_variant LUSC-KR 17 78311915 78311915 single base substitution C G upstream_gene_variant LUSC-KR 17 78314805 78314805 single base substitution G A downstream_gene_variant LUSC-KR 17 78314805 78314805 single base substitution G A intron_variant LUSC-KR 17 78316321 78316321 single base substitution C T downstream_gene_variant LUSC-KR 17 78316321 78316321 single base substitution C T intron_variant LUSC-KR 17 78317124 78317124 single base substitution C G downstream_gene_variant LUSC-KR 17 78317124 78317124 single base substitution C G stop_gained S134* 401C>G LUSC-KR 17 78317124 78317124 single base substitution C G stop_gained S2061* 6182C>G LUSC-KR 17 78317124 78317124 single base substitution C G stop_gained S2110* 6329C>G LUSC-KR 17 78317358 78317358 single base substitution C T downstream_gene_variant LUSC-KR 17 78317358 78317358 single base substitution C T intron_variant LUSC-KR 17 78317686 78317686 single base substitution C G downstream_gene_variant LUSC-KR 17 78317686 78317686 single base substitution C G missense_variant F144L 432C>G LUSC-KR 17 78317686 78317686 single base substitution C G missense_variant F2071L 6213C>G LUSC-KR 17 78317686 78317686 single base substitution C G missense_variant F2120L 6360C>G LUSC-KR 17 78317855 78317855 single base substitution C G downstream_gene_variant LUSC-KR 17 78317855 78317855 single base substitution C G intron_variant LUSC-KR 17 78320789 78320789 single base substitution C T missense_variant S2885F 8654C>T LUSC-KR 17 78320789 78320789 single base substitution C T missense_variant S2934F 8801C>T LUSC-KR 17 78320789 78320789 single base substitution C T missense_variant S958F 2873C>T LUSC-KR 17 78325351 78325351 single base substitution G T intron_variant LUSC-KR 17 78325351 78325351 single base substitution G T upstream_gene_variant LUSC-KR 17 78325556 78325556 single base substitution A T missense_variant K1492I 4475A>T LUSC-KR 17 78325556 78325556 single base substitution A T missense_variant K3419I 10256A>T LUSC-KR 17 78325556 78325556 single base substitution A T missense_variant K3468I 10403A>T LUSC-KR 17 78325556 78325556 single base substitution A T upstream_gene_variant LUSC-KR 17 78326129 78326129 single base substitution C T intron_variant LUSC-KR 17 78326129 78326129 single base substitution C T upstream_gene_variant LUSC-KR 17 78327059 78327059 single base substitution A C intron_variant LUSC-KR 17 78327059 78327059 single base substitution A C upstream_gene_variant LUSC-KR 17 78327541 78327541 single base substitution A G intron_variant LUSC-KR 17 78327541 78327541 single base substitution A G upstream_gene_variant LUSC-KR 17 78332830 78332830 single base substitution A T intron_variant LUSC-KR 17 78332830 78332830 single base substitution A T upstream_gene_variant LUSC-KR 17 78333708 78333708 single base substitution C G intron_variant LUSC-KR 17 78333708 78333708 single base substitution C G upstream_gene_variant LUSC-KR 17 78337354 78337354 single base substitution G C downstream_gene_variant LUSC-KR 17 78337354 78337354 single base substitution G C exon_variant LUSC-KR 17 78337354 78337354 single base substitution G C intron_variant LUSC-KR 17 78337354 78337354 single base substitution G C upstream_gene_variant LUSC-KR 17 78341776 78341776 single base substitution G A downstream_gene_variant LUSC-KR 17 78341776 78341776 single base substitution G A exon_variant LUSC-KR 17 78341776 78341776 single base substitution G A synonymous_variant P2069P 6207G>A LUSC-KR 17 78341776 78341776 single base substitution G A synonymous_variant P3996P 11988G>A LUSC-KR 17 78341776 78341776 single base substitution G A synonymous_variant P4045P 12135G>A LUSC-KR 17 78341776 78341776 single base substitution G A upstream_gene_variant LUSC-KR 17 78346534 78346534 single base substitution G C missense_variant E2324Q 6970G>C LUSC-KR 17 78346534 78346534 single base substitution G C missense_variant E4251Q 12751G>C LUSC-KR 17 78346534 78346534 single base substitution G C missense_variant E4300Q 12898G>C LUSC-KR 17 78346534 78346534 single base substitution G C splice_region_variant LUSC-KR 17 78346534 78346534 single base substitution G C upstream_gene_variant LUSC-KR 17 78347176 78347176 single base substitution C T intron_variant LUSC-KR 17 78347176 78347176 single base substitution C T upstream_gene_variant LUSC-KR 17 78364337 78364337 single base substitution C A downstream_gene_variant LUSC-KR 17 78364337 78364337 single base substitution C A intron_variant LUSC-KR 17 78364465 78364465 single base substitution A T downstream_gene_variant LUSC-KR 17 78364465 78364465 single base substitution A T intron_variant LUSC-KR 17 78364660 78364660 single base substitution C G downstream_gene_variant LUSC-KR 17 78364660 78364660 single base substitution C G intron_variant LUSC-KR 17 78377081 78377081 single base substitution C T downstream_gene_variant LUSC-US 17 78268622 78268622 single base substitution G A downstream_gene_variant LUSC-US 17 78268622 78268622 single base substitution G A exon_variant LUSC-US 17 78268622 78268622 single base substitution G A synonymous_variant G525G 1575G>A LUSC-US 17 78268622 78268622 single base substitution G A synonymous_variant G574G 1722G>A LUSC-US 17 78268622 78268622 single base substitution G A upstream_gene_variant LUSC-US 17 78269537 78269537 single base substitution C T downstream_gene_variant LUSC-US 17 78269537 78269537 single base substitution C T exon_variant LUSC-US 17 78269537 78269537 single base substitution C T missense_variant H646Y 1936C>T LUSC-US 17 78269537 78269537 single base substitution C T missense_variant H695Y 2083C>T LUSC-US 17 78272202 78272202 single base substitution G T exon_variant LUSC-US 17 78272202 78272202 single base substitution G T synonymous_variant L698L 2094G>T LUSC-US 17 78272202 78272202 single base substitution G T synonymous_variant L747L 2241G>T LUSC-US 17 78272248 78272248 single base substitution C G exon_variant LUSC-US 17 78272248 78272248 single base substitution C G missense_variant Q714E 2140C>G LUSC-US 17 78272248 78272248 single base substitution C G missense_variant Q763E 2287C>G LUSC-US 17 78282825 78282825 single base substitution G A exon_variant LUSC-US 17 78282825 78282825 single base substitution G A missense_variant E837K 2509G>A LUSC-US 17 78282825 78282825 single base substitution G A missense_variant E886K 2656G>A LUSC-US 17 78282825 78282825 single base substitution G T exon_variant LUSC-US 17 78282825 78282825 single base substitution G T stop_gained E837* 2509G>T LUSC-US 17 78282825 78282825 single base substitution G T stop_gained E886* 2656G>T LUSC-US 17 78282826 78282826 single base substitution A G exon_variant LUSC-US 17 78282826 78282826 single base substitution A G missense_variant E837G 2510A>G LUSC-US 17 78282826 78282826 single base substitution A G missense_variant E886G 2657A>G LUSC-US 17 78317711 78317711 single base substitution A G downstream_gene_variant LUSC-US 17 78317711 78317711 single base substitution A G missense_variant M153V 457A>G LUSC-US 17 78317711 78317711 single base substitution A G missense_variant M2080V 6238A>G LUSC-US 17 78317711 78317711 single base substitution A G missense_variant M2129V 6385A>G LUSC-US 17 78318559 78318559 single base substitution G C missense_variant E2142Q 6424G>C LUSC-US 17 78318559 78318559 single base substitution G C missense_variant E215Q 643G>C LUSC-US 17 78318559 78318559 single base substitution G C missense_variant E2191Q 6571G>C LUSC-US 17 78319717 78319717 single base substitution C T missense_variant R2528W 7582C>T LUSC-US 17 78319717 78319717 single base substitution C T missense_variant R2577W 7729C>T LUSC-US 17 78319717 78319717 single base substitution C T missense_variant R601W 1801C>T LUSC-US 17 78320176 78320176 single base substitution G T missense_variant V2681F 8041G>T LUSC-US 17 78320176 78320176 single base substitution G T missense_variant V2730F 8188G>T LUSC-US 17 78320176 78320176 single base substitution G T missense_variant V754F 2260G>T LUSC-US 17 78321522 78321522 single base substitution G A synonymous_variant V1202V 3606G>A LUSC-US 17 78321522 78321522 single base substitution G A synonymous_variant V3129V 9387G>A LUSC-US 17 78321522 78321522 single base substitution G A synonymous_variant V3178V 9534G>A LUSC-US 17 78322000 78322000 single base substitution C T missense_variant H1362Y 4084C>T LUSC-US 17 78322000 78322000 single base substitution C T missense_variant H3289Y 9865C>T LUSC-US 17 78322000 78322000 single base substitution C T missense_variant H3338Y 10012C>T LUSC-US 17 78323667 78323667 single base substitution A G missense_variant Q1423R 4268A>G LUSC-US 17 78323667 78323667 single base substitution A G missense_variant Q3350R 10049A>G LUSC-US 17 78323667 78323667 single base substitution A G missense_variant Q3399R 10196A>G LUSC-US 17 78323667 78323667 single base substitution A G upstream_gene_variant LUSC-US 17 78335564 78335564 single base substitution A C downstream_gene_variant LUSC-US 17 78335564 78335564 single base substitution A C exon_variant LUSC-US 17 78335564 78335564 single base substitution A C missense_variant Q1817P 5450A>C LUSC-US 17 78335564 78335564 single base substitution A C missense_variant Q3744P 11231A>C LUSC-US 17 78335564 78335564 single base substitution A C missense_variant Q3793P 11378A>C LUSC-US 17 78335564 78335564 single base substitution A C upstream_gene_variant LUSC-US 17 78337588 78337588 single base substitution C G downstream_gene_variant LUSC-US 17 78337588 78337588 single base substitution C G splice_region_variant LUSC-US 17 78341763 78341763 single base substitution T G downstream_gene_variant LUSC-US 17 78341763 78341763 single base substitution T G missense_variant F2065C 6194T>G LUSC-US 17 78341763 78341763 single base substitution T G missense_variant F3992C 11975T>G LUSC-US 17 78341763 78341763 single base substitution T G missense_variant F4041C 12122T>G LUSC-US 17 78341763 78341763 single base substitution T G splice_region_variant LUSC-US 17 78341763 78341763 single base substitution T G upstream_gene_variant LUSC-US 17 78348267 78348267 single base substitution C A exon_variant LUSC-US 17 78348267 78348267 single base substitution C A missense_variant Q2391K 7171C>A LUSC-US 17 78348267 78348267 single base substitution C A missense_variant Q36K 106C>A LUSC-US 17 78348267 78348267 single base substitution C A missense_variant Q4318K 12952C>A LUSC-US 17 78348267 78348267 single base substitution C A missense_variant Q4367K 13099C>A LUSC-US 17 78348267 78348267 single base substitution C A upstream_gene_variant LUSC-US 17 78355400 78355400 single base substitution G A downstream_gene_variant LUSC-US 17 78355400 78355400 single base substitution G A exon_variant LUSC-US 17 78355400 78355400 single base substitution G A synonymous_variant Q2690Q 8070G>A LUSC-US 17 78355400 78355400 single base substitution G A synonymous_variant Q4617Q 13851G>A LUSC-US 17 78355400 78355400 single base substitution G A synonymous_variant Q4666Q 13998G>A LUSC-US 17 78355400 78355400 single base substitution G A upstream_gene_variant LUSC-US 17 78360162 78360162 single base substitution C T downstream_gene_variant LUSC-US 17 78360162 78360162 single base substitution C T exon_variant LUSC-US 17 78360162 78360162 single base substitution C T synonymous_variant V2957V 8871C>T LUSC-US 17 78360162 78360162 single base substitution C T synonymous_variant V4884V 14652C>T LUSC-US 17 78360162 78360162 single base substitution C T synonymous_variant V4933V 14799C>T LUSC-US 17 78360162 78360162 single base substitution C T upstream_gene_variant LUSC-US 17 78363638 78363638 single base substitution G C downstream_gene_variant LUSC-US 17 78363638 78363638 single base substitution G C exon_variant LUSC-US 17 78363638 78363638 single base substitution G C missense_variant R3142T 9425G>C LUSC-US 17 78363638 78363638 single base substitution G C missense_variant R5069T 15206G>C LUSC-US 17 78363638 78363638 single base substitution G C missense_variant R5118T 15353G>C MALY-DE 17 78231129 78231132 deletion of <=200bp GGAG - upstream_gene_variant MALY-DE 17 78232595 78232595 single base substitution G A upstream_gene_variant MALY-DE 17 78235715 78235715 single base substitution C T intron_variant MALY-DE 17 78237130 78237130 single base substitution C G intron_variant MALY-DE 17 78243910 78243911 deletion of <=200bp CA - intron_variant MALY-DE 17 78252838 78252838 single base substitution G A intron_variant MALY-DE 17 78255291 78255292 deletion of <=200bp AC - intron_variant MALY-DE 17 78256433 78256433 single base substitution G A intron_variant MALY-DE 17 78276930 78276930 single base substitution G A downstream_gene_variant MALY-DE 17 78276930 78276930 single base substitution G A intron_variant MALY-DE 17 78286556 78286556 single base substitution C T intron_variant MALY-DE 17 78289579 78289579 single base substitution T A intron_variant MALY-DE 17 78289637 78289637 single base substitution G T intron_variant MALY-DE 17 78289819 78289819 insertion of <=200bp - TGA intron_variant MALY-DE 17 78293367 78293367 single base substitution G A 3_prime_UTR_variant MALY-DE 17 78293367 78293367 single base substitution G A intron_variant MALY-DE 17 78296057 78296057 single base substitution C A downstream_gene_variant MALY-DE 17 78296057 78296057 single base substitution C A intron_variant MALY-DE 17 78297779 78297780 deletion of <=200bp GT - downstream_gene_variant MALY-DE 17 78297779 78297780 deletion of <=200bp GT - intron_variant MALY-DE 17 78300831 78300831 single base substitution T C intron_variant MALY-DE 17 78310023 78310023 single base substitution G A exon_variant MALY-DE 17 78310023 78310023 single base substitution G A missense_variant D1458N 4372G>A MALY-DE 17 78310023 78310023 single base substitution G A missense_variant D1507N 4519G>A MALY-DE 17 78310023 78310023 single base substitution G A upstream_gene_variant MALY-DE 17 78339332 78339332 single base substitution C T downstream_gene_variant MALY-DE 17 78339332 78339332 single base substitution C T intron_variant MALY-DE 17 78348041 78348041 single base substitution G T intron_variant MALY-DE 17 78348041 78348041 single base substitution G T upstream_gene_variant MALY-DE 17 78354351 78354351 single base substitution C T downstream_gene_variant MALY-DE 17 78354351 78354351 single base substitution C T intron_variant MALY-DE 17 78354351 78354351 single base substitution C T upstream_gene_variant MALY-DE 17 78354836 78354836 single base substitution C T downstream_gene_variant MALY-DE 17 78354836 78354836 single base substitution C T intron_variant MALY-DE 17 78354836 78354836 single base substitution C T upstream_gene_variant MALY-DE 17 78360470 78360470 single base substitution G A downstream_gene_variant MALY-DE 17 78360470 78360470 single base substitution G A intron_variant MALY-DE 17 78360470 78360470 single base substitution G A upstream_gene_variant MALY-DE 17 78367040 78367068 deletion of <=200bp CACAGTGCTGGGCTTACACACGTGAGCCA - downstream_gene_variant MALY-DE 17 78367040 78367068 deletion of <=200bp CACAGTGCTGGGCTTACACACGTGAGCCA - intron_variant MALY-DE 17 78367991 78367991 single base substitution C T 3_prime_UTR_variant MALY-DE 17 78367991 78367991 single base substitution C T downstream_gene_variant MALY-DE 17 78367991 78367991 single base substitution C T exon_variant MALY-DE 17 78369713 78369713 single base substitution T A 3_prime_UTR_variant MALY-DE 17 78369713 78369713 single base substitution T A downstream_gene_variant MALY-DE 17 78369713 78369713 single base substitution T A exon_variant MALY-DE 17 78370744 78370744 single base substitution A G 3_prime_UTR_variant MALY-DE 17 78370744 78370744 single base substitution A G downstream_gene_variant MALY-DE 17 78371476 78371476 single base substitution G A 3_prime_UTR_variant MALY-DE 17 78371476 78371476 single base substitution G A downstream_gene_variant MALY-DE 17 78372512 78372513 deletion of <=200bp AG - 3_prime_UTR_variant MALY-DE 17 78372512 78372513 deletion of <=200bp AG - downstream_gene_variant MALY-DE 17 78375006 78375006 single base substitution C A downstream_gene_variant MELA-AU 17 78230120 78230120 single base substitution C T upstream_gene_variant MELA-AU 17 78230142 78230142 single base substitution G A upstream_gene_variant MELA-AU 17 78230189 78230189 single base substitution C T upstream_gene_variant MELA-AU 17 78230223 78230223 single base substitution T C upstream_gene_variant MELA-AU 17 78230478 78230478 single base substitution G A upstream_gene_variant MELA-AU 17 78231969 78231969 single base substitution C T upstream_gene_variant MELA-AU 17 78232990 78232990 single base substitution G A upstream_gene_variant MELA-AU 17 78235144 78235144 single base substitution C T intron_variant MELA-AU 17 78235671 78235671 single base substitution C T intron_variant MELA-AU 17 78235753 78235753 single base substitution T C intron_variant MELA-AU 17 78236578 78236578 single base substitution C T intron_variant MELA-AU 17 78237640 78237640 single base substitution C T intron_variant MELA-AU 17 78238636 78238636 single base substitution C T intron_variant MELA-AU 17 78238752 78238752 single base substitution C T intron_variant MELA-AU 17 78238805 78238805 single base substitution C T intron_variant MELA-AU 17 78238864 78238864 single base substitution G A intron_variant MELA-AU 17 78239222 78239222 single base substitution A G intron_variant MELA-AU 17 78240000 78240000 single base substitution G A intron_variant MELA-AU 17 78240424 78240424 single base substitution C T intron_variant MELA-AU 17 78242391 78242391 single base substitution C T intron_variant MELA-AU 17 78243348 78243348 single base substitution C T intron_variant MELA-AU 17 78243558 78243558 single base substitution C T intron_variant MELA-AU 17 78243810 78243810 single base substitution G A intron_variant MELA-AU 17 78243877 78243877 single base substitution C T intron_variant MELA-AU 17 78244608 78244608 single base substitution C T intron_variant MELA-AU 17 78244809 78244809 single base substitution C T intron_variant MELA-AU 17 78245119 78245119 single base substitution C T intron_variant MELA-AU 17 78245755 78245756 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78246308 78246308 single base substitution C T intron_variant MELA-AU 17 78246369 78246369 single base substitution C T intron_variant MELA-AU 17 78246805 78246805 single base substitution C A intron_variant MELA-AU 17 78247164 78247164 single base substitution C T synonymous_variant P74P 222C>T MELA-AU 17 78249871 78249871 single base substitution T C intron_variant MELA-AU 17 78249918 78249918 single base substitution G C intron_variant MELA-AU 17 78249930 78249930 single base substitution C T intron_variant MELA-AU 17 78250148 78250148 single base substitution C T intron_variant MELA-AU 17 78250282 78250282 single base substitution A T intron_variant MELA-AU 17 78250914 78250914 single base substitution G C intron_variant MELA-AU 17 78251225 78251225 single base substitution C T intron_variant MELA-AU 17 78251998 78251998 single base substitution A G intron_variant MELA-AU 17 78252091 78252091 single base substitution C T intron_variant MELA-AU 17 78253298 78253298 single base substitution C T intron_variant MELA-AU 17 78254739 78254739 single base substitution G A intron_variant MELA-AU 17 78255897 78255897 single base substitution C T intron_variant MELA-AU 17 78256233 78256233 single base substitution T C intron_variant MELA-AU 17 78256694 78256694 single base substitution C T intron_variant MELA-AU 17 78256790 78256790 single base substitution C T intron_variant MELA-AU 17 78256790 78256790 single base substitution C T upstream_gene_variant MELA-AU 17 78257249 78257249 single base substitution C T intron_variant MELA-AU 17 78257249 78257249 single base substitution C T upstream_gene_variant MELA-AU 17 78258368 78258368 single base substitution T A intron_variant MELA-AU 17 78258368 78258368 single base substitution T A upstream_gene_variant MELA-AU 17 78258713 78258713 single base substitution C T intron_variant MELA-AU 17 78258713 78258713 single base substitution C T upstream_gene_variant MELA-AU 17 78259057 78259057 single base substitution C T intron_variant MELA-AU 17 78259057 78259057 single base substitution C T upstream_gene_variant MELA-AU 17 78259266 78259267 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78259266 78259267 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78260009 78260009 single base substitution C T intron_variant MELA-AU 17 78260009 78260009 single base substitution C T upstream_gene_variant MELA-AU 17 78260532 78260532 single base substitution G A intron_variant MELA-AU 17 78260532 78260532 single base substitution G A upstream_gene_variant MELA-AU 17 78261030 78261030 single base substitution C T intron_variant MELA-AU 17 78261030 78261030 single base substitution C T upstream_gene_variant MELA-AU 17 78261981 78261981 single base substitution C T exon_variant MELA-AU 17 78261981 78261981 single base substitution C T missense_variant P210L 629C>T MELA-AU 17 78261981 78261981 single base substitution C T missense_variant P259L 776C>T MELA-AU 17 78261981 78261981 single base substitution C T upstream_gene_variant MELA-AU 17 78262282 78262282 single base substitution C T intron_variant MELA-AU 17 78262282 78262282 single base substitution C T upstream_gene_variant MELA-AU 17 78262581 78262581 single base substitution C T intron_variant MELA-AU 17 78262581 78262581 single base substitution C T upstream_gene_variant MELA-AU 17 78262886 78262887 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78262886 78262887 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78262913 78262913 single base substitution C T intron_variant MELA-AU 17 78262913 78262913 single base substitution C T upstream_gene_variant MELA-AU 17 78263698 78263698 single base substitution C T intron_variant MELA-AU 17 78263826 78263826 single base substitution C T intron_variant MELA-AU 17 78263894 78263894 single base substitution C T intron_variant MELA-AU 17 78265080 78265080 single base substitution G A intron_variant MELA-AU 17 78265080 78265080 single base substitution G A upstream_gene_variant MELA-AU 17 78265244 78265244 single base substitution C T intron_variant MELA-AU 17 78265244 78265244 single base substitution C T upstream_gene_variant MELA-AU 17 78265257 78265257 single base substitution A C intron_variant MELA-AU 17 78265257 78265257 single base substitution A C upstream_gene_variant MELA-AU 17 78265547 78265547 single base substitution C T exon_variant MELA-AU 17 78265547 78265547 single base substitution C T synonymous_variant F464F 1392C>T MELA-AU 17 78265547 78265547 single base substitution C T synonymous_variant F513F 1539C>T MELA-AU 17 78265547 78265547 single base substitution C T upstream_gene_variant MELA-AU 17 78265952 78265952 single base substitution C T downstream_gene_variant MELA-AU 17 78265952 78265952 single base substitution C T intron_variant MELA-AU 17 78265952 78265952 single base substitution C T upstream_gene_variant MELA-AU 17 78265991 78265991 single base substitution C T downstream_gene_variant MELA-AU 17 78265991 78265991 single base substitution C T intron_variant MELA-AU 17 78265991 78265991 single base substitution C T upstream_gene_variant MELA-AU 17 78266116 78266116 single base substitution C T downstream_gene_variant MELA-AU 17 78266116 78266116 single base substitution C T intron_variant MELA-AU 17 78266116 78266116 single base substitution C T upstream_gene_variant MELA-AU 17 78266478 78266478 single base substitution C T downstream_gene_variant MELA-AU 17 78266478 78266478 single base substitution C T intron_variant MELA-AU 17 78266478 78266478 single base substitution C T upstream_gene_variant MELA-AU 17 78266550 78266550 single base substitution C T downstream_gene_variant MELA-AU 17 78266550 78266550 single base substitution C T intron_variant MELA-AU 17 78266550 78266550 single base substitution C T upstream_gene_variant MELA-AU 17 78266688 78266688 single base substitution C T downstream_gene_variant MELA-AU 17 78266688 78266688 single base substitution C T intron_variant MELA-AU 17 78266688 78266688 single base substitution C T upstream_gene_variant MELA-AU 17 78267518 78267518 single base substitution C T downstream_gene_variant MELA-AU 17 78267518 78267518 single base substitution C T intron_variant MELA-AU 17 78267518 78267518 single base substitution C T upstream_gene_variant MELA-AU 17 78268031 78268031 single base substitution C T downstream_gene_variant MELA-AU 17 78268031 78268031 single base substitution C T intron_variant MELA-AU 17 78268031 78268031 single base substitution C T upstream_gene_variant MELA-AU 17 78268212 78268212 single base substitution T C downstream_gene_variant MELA-AU 17 78268212 78268212 single base substitution T C intron_variant MELA-AU 17 78268212 78268212 single base substitution T C upstream_gene_variant MELA-AU 17 78268818 78268818 single base substitution C T downstream_gene_variant MELA-AU 17 78268818 78268818 single base substitution C T intron_variant MELA-AU 17 78268818 78268818 single base substitution C T upstream_gene_variant MELA-AU 17 78268930 78268930 single base substitution T A downstream_gene_variant MELA-AU 17 78268930 78268930 single base substitution T A intron_variant MELA-AU 17 78268930 78268930 single base substitution T A upstream_gene_variant MELA-AU 17 78269123 78269123 single base substitution C T downstream_gene_variant MELA-AU 17 78269123 78269123 single base substitution C T intron_variant MELA-AU 17 78269123 78269123 single base substitution C T upstream_gene_variant MELA-AU 17 78269284 78269284 single base substitution C G downstream_gene_variant MELA-AU 17 78269284 78269284 single base substitution C G intron_variant MELA-AU 17 78269284 78269284 single base substitution C G upstream_gene_variant MELA-AU 17 78269383 78269383 single base substitution G A downstream_gene_variant MELA-AU 17 78269383 78269383 single base substitution G A exon_variant MELA-AU 17 78269383 78269383 single base substitution G A synonymous_variant L594L 1782G>A MELA-AU 17 78269383 78269383 single base substitution G A synonymous_variant L643L 1929G>A MELA-AU 17 78269383 78269383 single base substitution G A upstream_gene_variant MELA-AU 17 78269666 78269666 single base substitution C T downstream_gene_variant MELA-AU 17 78269666 78269666 single base substitution C T intron_variant MELA-AU 17 78270255 78270255 single base substitution C T downstream_gene_variant MELA-AU 17 78270255 78270255 single base substitution C T intron_variant MELA-AU 17 78270626 78270626 single base substitution T G downstream_gene_variant MELA-AU 17 78270626 78270626 single base substitution T G intron_variant MELA-AU 17 78270722 78270722 single base substitution G A downstream_gene_variant MELA-AU 17 78270722 78270722 single base substitution G A intron_variant MELA-AU 17 78270728 78270728 single base substitution C T downstream_gene_variant MELA-AU 17 78270728 78270728 single base substitution C T intron_variant MELA-AU 17 78271047 78271047 single base substitution C T intron_variant MELA-AU 17 78271132 78271132 single base substitution C A intron_variant MELA-AU 17 78271173 78271174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78271641 78271641 single base substitution C T intron_variant MELA-AU 17 78272034 78272034 single base substitution T C intron_variant MELA-AU 17 78272889 78272889 single base substitution C G downstream_gene_variant MELA-AU 17 78272889 78272889 single base substitution C G intron_variant MELA-AU 17 78272889 78272889 single base substitution C T downstream_gene_variant MELA-AU 17 78272889 78272889 single base substitution C T intron_variant MELA-AU 17 78273128 78273128 single base substitution C T downstream_gene_variant MELA-AU 17 78273128 78273128 single base substitution C T intron_variant MELA-AU 17 78273555 78273555 single base substitution C T downstream_gene_variant MELA-AU 17 78273555 78273555 single base substitution C T intron_variant MELA-AU 17 78273711 78273711 single base substitution G A downstream_gene_variant MELA-AU 17 78273711 78273711 single base substitution G A intron_variant MELA-AU 17 78274582 78274582 single base substitution C T downstream_gene_variant MELA-AU 17 78274582 78274582 single base substitution C T intron_variant MELA-AU 17 78274832 78274833 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 17 78274832 78274833 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 78274842 78274843 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 78274842 78274843 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78275514 78275514 single base substitution G A downstream_gene_variant MELA-AU 17 78275514 78275514 single base substitution G A intron_variant MELA-AU 17 78275854 78275854 single base substitution C T downstream_gene_variant MELA-AU 17 78275854 78275854 single base substitution C T intron_variant MELA-AU 17 78276356 78276356 single base substitution T C downstream_gene_variant MELA-AU 17 78276356 78276356 single base substitution T C intron_variant MELA-AU 17 78277687 78277687 single base substitution C T intron_variant MELA-AU 17 78277742 78277742 single base substitution C T intron_variant MELA-AU 17 78277928 78277928 single base substitution C T intron_variant MELA-AU 17 78278213 78278214 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78278475 78278475 single base substitution T C intron_variant MELA-AU 17 78279236 78279236 single base substitution C T intron_variant MELA-AU 17 78279372 78279372 single base substitution C T intron_variant MELA-AU 17 78279404 78279404 single base substitution C T intron_variant MELA-AU 17 78279756 78279756 single base substitution A G intron_variant MELA-AU 17 78279989 78279989 single base substitution C T intron_variant MELA-AU 17 78281342 78281342 single base substitution G T intron_variant MELA-AU 17 78281383 78281383 single base substitution C T intron_variant MELA-AU 17 78281441 78281441 single base substitution C T intron_variant MELA-AU 17 78281661 78281661 single base substitution T G intron_variant MELA-AU 17 78281875 78281875 single base substitution C T intron_variant MELA-AU 17 78281986 78281986 single base substitution G A intron_variant MELA-AU 17 78282066 78282066 single base substitution C T intron_variant MELA-AU 17 78282361 78282361 single base substitution C T intron_variant MELA-AU 17 78282614 78282614 single base substitution G A intron_variant MELA-AU 17 78282998 78282998 single base substitution C T intron_variant MELA-AU 17 78283311 78283311 single base substitution T A intron_variant MELA-AU 17 78283972 78283972 single base substitution C T intron_variant MELA-AU 17 78284175 78284175 single base substitution C T intron_variant MELA-AU 17 78284554 78284554 single base substitution G T intron_variant MELA-AU 17 78284954 78284954 single base substitution C T intron_variant MELA-AU 17 78285228 78285228 single base substitution G A intron_variant MELA-AU 17 78285328 78285328 single base substitution C T intron_variant MELA-AU 17 78285636 78285636 single base substitution C T intron_variant MELA-AU 17 78285724 78285724 single base substitution C T intron_variant MELA-AU 17 78285944 78285944 single base substitution A G intron_variant MELA-AU 17 78286034 78286034 single base substitution C T intron_variant MELA-AU 17 78286134 78286134 single base substitution C T intron_variant MELA-AU 17 78286173 78286173 single base substitution G C intron_variant MELA-AU 17 78286624 78286624 single base substitution C T intron_variant MELA-AU 17 78287960 78287960 single base substitution T A intron_variant MELA-AU 17 78290530 78290530 single base substitution C T intron_variant MELA-AU 17 78291176 78291176 single base substitution G A intron_variant MELA-AU 17 78291328 78291328 single base substitution C T intron_variant MELA-AU 17 78291846 78291846 single base substitution G A intron_variant MELA-AU 17 78292628 78292628 single base substitution C T intron_variant MELA-AU 17 78293250 78293250 single base substitution C T intron_variant MELA-AU 17 78293250 78293250 single base substitution C T synonymous_variant S1054S 3162C>T MELA-AU 17 78293397 78293397 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78293397 78293397 single base substitution C T intron_variant MELA-AU 17 78293556 78293556 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78293556 78293556 single base substitution C T intron_variant MELA-AU 17 78293695 78293695 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78293695 78293695 single base substitution C T intron_variant MELA-AU 17 78294126 78294131 deletion of <=200bp TAATGT - 3_prime_UTR_variant MELA-AU 17 78294126 78294131 deletion of <=200bp TAATGT - intron_variant MELA-AU 17 78294234 78294234 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78294234 78294234 single base substitution C T intron_variant MELA-AU 17 78294669 78294669 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78294669 78294669 single base substitution C T intron_variant MELA-AU 17 78294686 78294686 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78294686 78294686 single base substitution C T intron_variant MELA-AU 17 78295237 78295237 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78295237 78295237 single base substitution C T intron_variant MELA-AU 17 78295519 78295519 single base substitution C T downstream_gene_variant MELA-AU 17 78295519 78295519 single base substitution C T intron_variant MELA-AU 17 78296464 78296464 single base substitution C T downstream_gene_variant MELA-AU 17 78296464 78296464 single base substitution C T intron_variant MELA-AU 17 78296554 78296554 single base substitution A G downstream_gene_variant MELA-AU 17 78296554 78296554 single base substitution A G intron_variant MELA-AU 17 78296837 78296837 single base substitution C T downstream_gene_variant MELA-AU 17 78296837 78296837 single base substitution C T intron_variant MELA-AU 17 78297242 78297242 single base substitution C T downstream_gene_variant MELA-AU 17 78297242 78297242 single base substitution C T intron_variant MELA-AU 17 78297691 78297691 single base substitution C T downstream_gene_variant MELA-AU 17 78297691 78297691 single base substitution C T intron_variant MELA-AU 17 78297973 78297973 deletion of <=200bp C - downstream_gene_variant MELA-AU 17 78297973 78297973 deletion of <=200bp C - intron_variant MELA-AU 17 78298747 78298747 single base substitution C T downstream_gene_variant MELA-AU 17 78298747 78298747 single base substitution C T intron_variant MELA-AU 17 78298823 78298823 single base substitution C T downstream_gene_variant MELA-AU 17 78298823 78298823 single base substitution C T splice_region_variant MELA-AU 17 78300379 78300380 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78301398 78301399 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78302981 78302982 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78303514 78303514 single base substitution C T intron_variant MELA-AU 17 78303831 78303831 single base substitution C G intron_variant MELA-AU 17 78303845 78303845 single base substitution C T intron_variant MELA-AU 17 78303878 78303878 single base substitution T A intron_variant MELA-AU 17 78304066 78304066 single base substitution C T intron_variant MELA-AU 17 78304742 78304742 single base substitution C T intron_variant MELA-AU 17 78305166 78305166 single base substitution C T intron_variant MELA-AU 17 78305870 78305870 single base substitution C T exon_variant MELA-AU 17 78305870 78305870 single base substitution C T synonymous_variant T1194T 3582C>T MELA-AU 17 78305870 78305870 single base substitution C T synonymous_variant T1243T 3729C>T MELA-AU 17 78305893 78305893 single base substitution C T exon_variant MELA-AU 17 78305893 78305893 single base substitution C T missense_variant S1202F 3605C>T MELA-AU 17 78305893 78305893 single base substitution C T missense_variant S1251F 3752C>T MELA-AU 17 78306008 78306008 single base substitution C G exon_variant MELA-AU 17 78306008 78306008 single base substitution C G synonymous_variant A1240A 3720C>G MELA-AU 17 78306008 78306008 single base substitution C G synonymous_variant A1289A 3867C>G MELA-AU 17 78306792 78306792 single base substitution C T intron_variant MELA-AU 17 78306792 78306792 single base substitution C T upstream_gene_variant MELA-AU 17 78306996 78306996 single base substitution C T intron_variant MELA-AU 17 78306996 78306996 single base substitution C T upstream_gene_variant MELA-AU 17 78307053 78307053 single base substitution G A intron_variant MELA-AU 17 78307053 78307053 single base substitution G A upstream_gene_variant MELA-AU 17 78307622 78307622 single base substitution G A intron_variant MELA-AU 17 78307622 78307622 single base substitution G A upstream_gene_variant MELA-AU 17 78307652 78307652 single base substitution A T intron_variant MELA-AU 17 78307652 78307652 single base substitution A T upstream_gene_variant MELA-AU 17 78308140 78308140 single base substitution C T intron_variant MELA-AU 17 78308140 78308140 single base substitution C T upstream_gene_variant MELA-AU 17 78308521 78308521 single base substitution G A intron_variant MELA-AU 17 78308521 78308521 single base substitution G A upstream_gene_variant MELA-AU 17 78308725 78308725 single base substitution C T intron_variant MELA-AU 17 78308725 78308725 single base substitution C T upstream_gene_variant MELA-AU 17 78309714 78309714 single base substitution T C intron_variant MELA-AU 17 78309714 78309714 single base substitution T C upstream_gene_variant MELA-AU 17 78309869 78309869 single base substitution C T intron_variant MELA-AU 17 78309869 78309869 single base substitution C T upstream_gene_variant MELA-AU 17 78309931 78309931 single base substitution C T intron_variant MELA-AU 17 78309931 78309931 single base substitution C T upstream_gene_variant MELA-AU 17 78310743 78310743 single base substitution A G downstream_gene_variant MELA-AU 17 78310743 78310743 single base substitution A G intron_variant MELA-AU 17 78310743 78310743 single base substitution A G upstream_gene_variant MELA-AU 17 78311546 78311546 single base substitution C T downstream_gene_variant MELA-AU 17 78311546 78311546 single base substitution C T intron_variant MELA-AU 17 78311546 78311546 single base substitution C T upstream_gene_variant MELA-AU 17 78312442 78312442 single base substitution C T downstream_gene_variant MELA-AU 17 78312442 78312442 single base substitution C T intron_variant MELA-AU 17 78312442 78312442 single base substitution C T upstream_gene_variant MELA-AU 17 78312639 78312639 single base substitution T C downstream_gene_variant MELA-AU 17 78312639 78312639 single base substitution T C intron_variant MELA-AU 17 78312639 78312639 single base substitution T C upstream_gene_variant MELA-AU 17 78313611 78313611 single base substitution C T downstream_gene_variant MELA-AU 17 78313611 78313611 single base substitution C T missense_variant S1815F 5444C>T MELA-AU 17 78313611 78313611 single base substitution C T missense_variant S1864F 5591C>T MELA-AU 17 78313611 78313611 single base substitution C T upstream_gene_variant MELA-AU 17 78313648 78313648 single base substitution C T downstream_gene_variant MELA-AU 17 78313648 78313648 single base substitution C T synonymous_variant V1827V 5481C>T MELA-AU 17 78313648 78313648 single base substitution C T synonymous_variant V1876V 5628C>T MELA-AU 17 78313648 78313648 single base substitution C T upstream_gene_variant MELA-AU 17 78313666 78313666 single base substitution C T downstream_gene_variant MELA-AU 17 78313666 78313666 single base substitution C T synonymous_variant V1833V 5499C>T MELA-AU 17 78313666 78313666 single base substitution C T synonymous_variant V1882V 5646C>T MELA-AU 17 78313666 78313666 single base substitution C T upstream_gene_variant MELA-AU 17 78314216 78314216 single base substitution C T downstream_gene_variant MELA-AU 17 78314216 78314216 single base substitution C T intron_variant MELA-AU 17 78314932 78314932 single base substitution T C downstream_gene_variant MELA-AU 17 78314932 78314932 single base substitution T C intron_variant MELA-AU 17 78315149 78315149 single base substitution C T downstream_gene_variant MELA-AU 17 78315149 78315149 single base substitution C T intron_variant MELA-AU 17 78315358 78315358 single base substitution C T downstream_gene_variant MELA-AU 17 78315358 78315358 single base substitution C T intron_variant MELA-AU 17 78315554 78315554 single base substitution G A downstream_gene_variant MELA-AU 17 78315554 78315554 single base substitution G A intron_variant MELA-AU 17 78315695 78315695 single base substitution C T downstream_gene_variant MELA-AU 17 78315695 78315695 single base substitution C T intron_variant MELA-AU 17 78316313 78316313 single base substitution G A downstream_gene_variant MELA-AU 17 78316313 78316313 single base substitution G A intron_variant MELA-AU 17 78316697 78316697 single base substitution C T downstream_gene_variant MELA-AU 17 78316697 78316697 single base substitution C T intron_variant MELA-AU 17 78317101 78317101 single base substitution C T downstream_gene_variant MELA-AU 17 78317101 78317101 single base substitution C T synonymous_variant L126L 378C>T MELA-AU 17 78317101 78317101 single base substitution C T synonymous_variant L2053L 6159C>T MELA-AU 17 78317101 78317101 single base substitution C T synonymous_variant L2102L 6306C>T MELA-AU 17 78317200 78317200 single base substitution C T downstream_gene_variant MELA-AU 17 78317200 78317200 single base substitution C T intron_variant MELA-AU 17 78317207 78317207 single base substitution T C downstream_gene_variant MELA-AU 17 78317207 78317207 single base substitution T C intron_variant MELA-AU 17 78317692 78317692 single base substitution C T downstream_gene_variant MELA-AU 17 78317692 78317692 single base substitution C T synonymous_variant L146L 438C>T MELA-AU 17 78317692 78317692 single base substitution C T synonymous_variant L2073L 6219C>T MELA-AU 17 78317692 78317692 single base substitution C T synonymous_variant L2122L 6366C>T MELA-AU 17 78317725 78317726 multiple base substitution (>=2bp and <=200bp) GA AT downstream_gene_variant MELA-AU 17 78317725 78317726 multiple base substitution (>=2bp and <=200bp) GA AT stop_gained GK157G* MELA-AU 17 78317725 78317726 multiple base substitution (>=2bp and <=200bp) GA AT stop_gained GK2084G* MELA-AU 17 78317725 78317726 multiple base substitution (>=2bp and <=200bp) GA AT stop_gained GK2133G* MELA-AU 17 78317771 78317771 single base substitution C T downstream_gene_variant MELA-AU 17 78317771 78317771 single base substitution C T synonymous_variant L173L 517C>T MELA-AU 17 78317771 78317771 single base substitution C T synonymous_variant L2100L 6298C>T MELA-AU 17 78317771 78317771 single base substitution C T synonymous_variant L2149L 6445C>T MELA-AU 17 78318014 78318014 single base substitution A T downstream_gene_variant MELA-AU 17 78318014 78318014 single base substitution A T intron_variant MELA-AU 17 78318944 78318944 single base substitution C T missense_variant S2270F 6809C>T MELA-AU 17 78318944 78318944 single base substitution C T missense_variant S2319F 6956C>T MELA-AU 17 78318944 78318944 single base substitution C T missense_variant S343F 1028C>T MELA-AU 17 78319011 78319011 single base substitution C T synonymous_variant F2292F 6876C>T MELA-AU 17 78319011 78319011 single base substitution C T synonymous_variant F2341F 7023C>T MELA-AU 17 78319011 78319011 single base substitution C T synonymous_variant F365F 1095C>T MELA-AU 17 78319989 78319990 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant VL2618VF MELA-AU 17 78319989 78319990 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant VL2667VF MELA-AU 17 78319989 78319990 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant VL691VF MELA-AU 17 78320269 78320269 single base substitution C T missense_variant P2712S 8134C>T MELA-AU 17 78320269 78320269 single base substitution C T missense_variant P2761S 8281C>T MELA-AU 17 78320269 78320269 single base substitution C T missense_variant P785S 2353C>T MELA-AU 17 78320397 78320397 single base substitution G A missense_variant M2754I 8262G>A MELA-AU 17 78320397 78320397 single base substitution G A missense_variant M2803I 8409G>A MELA-AU 17 78320397 78320397 single base substitution G A missense_variant M827I 2481G>A MELA-AU 17 78320709 78320709 single base substitution G A synonymous_variant K2858K 8574G>A MELA-AU 17 78320709 78320709 single base substitution G A synonymous_variant K2907K 8721G>A MELA-AU 17 78320709 78320709 single base substitution G A synonymous_variant K931K 2793G>A MELA-AU 17 78321471 78321471 single base substitution C T synonymous_variant L1185L 3555C>T MELA-AU 17 78321471 78321471 single base substitution C T synonymous_variant L3112L 9336C>T MELA-AU 17 78321471 78321471 single base substitution C T synonymous_variant L3161L 9483C>T MELA-AU 17 78323738 78323739 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78323738 78323739 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78324137 78324137 single base substitution C A synonymous_variant L1448L 4344C>A MELA-AU 17 78324137 78324137 single base substitution C A synonymous_variant L3375L 10125C>A MELA-AU 17 78324137 78324137 single base substitution C A synonymous_variant L3424L 10272C>A MELA-AU 17 78324137 78324137 single base substitution C A upstream_gene_variant MELA-AU 17 78324268 78324268 single base substitution C T intron_variant MELA-AU 17 78324268 78324268 single base substitution C T upstream_gene_variant MELA-AU 17 78324920 78324920 single base substitution C T intron_variant MELA-AU 17 78324920 78324920 single base substitution C T upstream_gene_variant MELA-AU 17 78325697 78325697 single base substitution C T intron_variant MELA-AU 17 78325697 78325697 single base substitution C T upstream_gene_variant MELA-AU 17 78327250 78327250 single base substitution C T intron_variant MELA-AU 17 78327250 78327250 single base substitution C T upstream_gene_variant MELA-AU 17 78327519 78327519 single base substitution C T intron_variant MELA-AU 17 78327519 78327519 single base substitution C T upstream_gene_variant MELA-AU 17 78327692 78327692 single base substitution C T intron_variant MELA-AU 17 78327692 78327692 single base substitution C T upstream_gene_variant MELA-AU 17 78328148 78328148 single base substitution G A intron_variant MELA-AU 17 78328148 78328148 single base substitution G A upstream_gene_variant MELA-AU 17 78328400 78328400 single base substitution G A intron_variant MELA-AU 17 78328454 78328454 single base substitution C T intron_variant MELA-AU 17 78328565 78328566 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78328868 78328868 single base substitution C A intron_variant MELA-AU 17 78329776 78329776 single base substitution C T intron_variant MELA-AU 17 78329956 78329956 single base substitution C T intron_variant MELA-AU 17 78330691 78330691 single base substitution C T intron_variant MELA-AU 17 78332250 78332250 single base substitution G A exon_variant MELA-AU 17 78332250 78332250 single base substitution G A synonymous_variant L1748L 5244G>A MELA-AU 17 78332250 78332250 single base substitution G A synonymous_variant L3675L 11025G>A MELA-AU 17 78332250 78332250 single base substitution G A synonymous_variant L3724L 11172G>A MELA-AU 17 78332250 78332250 single base substitution G A upstream_gene_variant MELA-AU 17 78333844 78333844 single base substitution C T intron_variant MELA-AU 17 78333844 78333844 single base substitution C T upstream_gene_variant MELA-AU 17 78334049 78334049 single base substitution C T exon_variant MELA-AU 17 78334049 78334049 single base substitution C T intron_variant MELA-AU 17 78334049 78334049 single base substitution C T upstream_gene_variant MELA-AU 17 78334479 78334480 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 78334479 78334480 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78334479 78334480 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78334628 78334628 single base substitution A G downstream_gene_variant MELA-AU 17 78334628 78334628 single base substitution A G intron_variant MELA-AU 17 78334628 78334628 single base substitution A G upstream_gene_variant MELA-AU 17 78334834 78334834 single base substitution C T downstream_gene_variant MELA-AU 17 78334834 78334834 single base substitution C T intron_variant MELA-AU 17 78334834 78334834 single base substitution C T upstream_gene_variant MELA-AU 17 78335138 78335138 single base substitution G A downstream_gene_variant MELA-AU 17 78335138 78335138 single base substitution G A intron_variant MELA-AU 17 78335138 78335138 single base substitution G A upstream_gene_variant MELA-AU 17 78335514 78335514 single base substitution C G downstream_gene_variant MELA-AU 17 78335514 78335514 single base substitution C G intron_variant MELA-AU 17 78335514 78335514 single base substitution C G upstream_gene_variant MELA-AU 17 78335712 78335712 single base substitution G A downstream_gene_variant MELA-AU 17 78335712 78335712 single base substitution G A intron_variant MELA-AU 17 78335712 78335712 single base substitution G A upstream_gene_variant MELA-AU 17 78336277 78336277 single base substitution A G downstream_gene_variant MELA-AU 17 78336277 78336277 single base substitution A G intron_variant MELA-AU 17 78336277 78336277 single base substitution A G upstream_gene_variant MELA-AU 17 78336516 78336516 single base substitution A T downstream_gene_variant MELA-AU 17 78336516 78336516 single base substitution A T intron_variant MELA-AU 17 78336516 78336516 single base substitution A T upstream_gene_variant MELA-AU 17 78336618 78336618 single base substitution T A downstream_gene_variant MELA-AU 17 78336618 78336618 single base substitution T A intron_variant MELA-AU 17 78336618 78336618 single base substitution T A upstream_gene_variant MELA-AU 17 78336730 78336730 single base substitution A G downstream_gene_variant MELA-AU 17 78336730 78336730 single base substitution A G intron_variant MELA-AU 17 78336730 78336730 single base substitution A G upstream_gene_variant MELA-AU 17 78337718 78337718 single base substitution C T downstream_gene_variant MELA-AU 17 78337718 78337718 single base substitution C T intron_variant MELA-AU 17 78338756 78338757 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 17 78338756 78338757 multiple base substitution (>=2bp and <=200bp) GG TA exon_variant MELA-AU 17 78338756 78338757 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 17 78339629 78339629 single base substitution T C downstream_gene_variant MELA-AU 17 78339629 78339629 single base substitution T C intron_variant MELA-AU 17 78339902 78339902 single base substitution C T downstream_gene_variant MELA-AU 17 78339902 78339902 single base substitution C T intron_variant MELA-AU 17 78339992 78339992 single base substitution G A downstream_gene_variant MELA-AU 17 78339992 78339992 single base substitution G A intron_variant MELA-AU 17 78341495 78341495 single base substitution G A downstream_gene_variant MELA-AU 17 78341495 78341495 single base substitution G A intron_variant MELA-AU 17 78341495 78341495 single base substitution G A upstream_gene_variant MELA-AU 17 78343192 78343193 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 78343192 78343193 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78343192 78343193 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78343446 78343446 single base substitution G A downstream_gene_variant MELA-AU 17 78343446 78343446 single base substitution G A exon_variant MELA-AU 17 78343446 78343446 single base substitution G A synonymous_variant K2173K 6519G>A MELA-AU 17 78343446 78343446 single base substitution G A synonymous_variant K4100K 12300G>A MELA-AU 17 78343446 78343446 single base substitution G A synonymous_variant K4149K 12447G>A MELA-AU 17 78343446 78343446 single base substitution G A upstream_gene_variant MELA-AU 17 78343941 78343941 single base substitution C T downstream_gene_variant MELA-AU 17 78343941 78343941 single base substitution C T intron_variant MELA-AU 17 78343941 78343941 single base substitution C T upstream_gene_variant MELA-AU 17 78343955 78343955 single base substitution C T downstream_gene_variant MELA-AU 17 78343955 78343955 single base substitution C T intron_variant MELA-AU 17 78343955 78343955 single base substitution C T upstream_gene_variant MELA-AU 17 78346828 78346828 single base substitution C T exon_variant MELA-AU 17 78346828 78346828 single base substitution C T missense_variant R2342W 7024C>T MELA-AU 17 78346828 78346828 single base substitution C T missense_variant R4269W 12805C>T MELA-AU 17 78346828 78346828 single base substitution C T missense_variant R4318W 12952C>T MELA-AU 17 78346828 78346828 single base substitution C T upstream_gene_variant MELA-AU 17 78348685 78348685 single base substitution G A 3_prime_UTR_variant MELA-AU 17 78348685 78348685 single base substitution G A intron_variant MELA-AU 17 78348685 78348685 single base substitution G A upstream_gene_variant MELA-AU 17 78351838 78351838 single base substitution G A downstream_gene_variant MELA-AU 17 78351838 78351838 single base substitution G A intron_variant MELA-AU 17 78351838 78351838 single base substitution G A upstream_gene_variant MELA-AU 17 78352262 78352262 single base substitution C T downstream_gene_variant MELA-AU 17 78352262 78352262 single base substitution C T intron_variant MELA-AU 17 78352262 78352262 single base substitution C T upstream_gene_variant MELA-AU 17 78353539 78353539 single base substitution C T downstream_gene_variant MELA-AU 17 78353539 78353539 single base substitution C T exon_variant MELA-AU 17 78353539 78353539 single base substitution C T intron_variant MELA-AU 17 78353539 78353539 single base substitution C T upstream_gene_variant MELA-AU 17 78353715 78353715 single base substitution C T downstream_gene_variant MELA-AU 17 78353715 78353715 single base substitution C T intron_variant MELA-AU 17 78353715 78353715 single base substitution C T upstream_gene_variant MELA-AU 17 78353727 78353727 single base substitution G A downstream_gene_variant MELA-AU 17 78353727 78353727 single base substitution G A intron_variant MELA-AU 17 78353727 78353727 single base substitution G A upstream_gene_variant MELA-AU 17 78354191 78354192 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 78354191 78354192 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78354191 78354192 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 78354211 78354211 single base substitution C T downstream_gene_variant MELA-AU 17 78354211 78354211 single base substitution C T intron_variant MELA-AU 17 78354211 78354211 single base substitution C T upstream_gene_variant MELA-AU 17 78354436 78354436 single base substitution C T downstream_gene_variant MELA-AU 17 78354436 78354436 single base substitution C T intron_variant MELA-AU 17 78354436 78354436 single base substitution C T upstream_gene_variant MELA-AU 17 78354619 78354619 single base substitution C T downstream_gene_variant MELA-AU 17 78354619 78354619 single base substitution C T intron_variant MELA-AU 17 78354619 78354619 single base substitution C T upstream_gene_variant MELA-AU 17 78354675 78354675 single base substitution C T downstream_gene_variant MELA-AU 17 78354675 78354675 single base substitution C T exon_variant MELA-AU 17 78354675 78354675 single base substitution C T missense_variant P2635L 7904C>T MELA-AU 17 78354675 78354675 single base substitution C T missense_variant P4562L 13685C>T MELA-AU 17 78354675 78354675 single base substitution C T missense_variant P4611L 13832C>T MELA-AU 17 78354675 78354675 single base substitution C T upstream_gene_variant MELA-AU 17 78355337 78355337 single base substitution G A downstream_gene_variant MELA-AU 17 78355337 78355337 single base substitution G A intron_variant MELA-AU 17 78355337 78355337 single base substitution G A upstream_gene_variant MELA-AU 17 78355511 78355512 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 17 78355511 78355512 multiple base substitution (>=2bp and <=200bp) CC TG exon_variant MELA-AU 17 78355511 78355512 multiple base substitution (>=2bp and <=200bp) CC TG missense_variant HQ2727HE MELA-AU 17 78355511 78355512 multiple base substitution (>=2bp and <=200bp) CC TG missense_variant HQ4654HE MELA-AU 17 78355511 78355512 multiple base substitution (>=2bp and <=200bp) CC TG missense_variant HQ4703HE MELA-AU 17 78355511 78355512 multiple base substitution (>=2bp and <=200bp) CC TG upstream_gene_variant MELA-AU 17 78355537 78355537 single base substitution G A downstream_gene_variant MELA-AU 17 78355537 78355537 single base substitution G A exon_variant MELA-AU 17 78355537 78355537 single base substitution G A intron_variant MELA-AU 17 78355537 78355537 single base substitution G A upstream_gene_variant MELA-AU 17 78356057 78356057 single base substitution C T downstream_gene_variant MELA-AU 17 78356057 78356057 single base substitution C T exon_variant MELA-AU 17 78356057 78356057 single base substitution C T intron_variant MELA-AU 17 78356057 78356057 single base substitution C T upstream_gene_variant MELA-AU 17 78356182 78356182 single base substitution T G downstream_gene_variant MELA-AU 17 78356182 78356182 single base substitution T G exon_variant MELA-AU 17 78356182 78356182 single base substitution T G intron_variant MELA-AU 17 78356182 78356182 single base substitution T G upstream_gene_variant MELA-AU 17 78356223 78356224 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 78356223 78356224 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 78356223 78356224 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78356223 78356224 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78356595 78356595 single base substitution C T downstream_gene_variant MELA-AU 17 78356595 78356595 single base substitution C T exon_variant MELA-AU 17 78356595 78356595 single base substitution C T intron_variant MELA-AU 17 78356595 78356595 single base substitution C T upstream_gene_variant MELA-AU 17 78357435 78357435 single base substitution T A downstream_gene_variant MELA-AU 17 78357435 78357435 single base substitution T A intron_variant MELA-AU 17 78357435 78357435 single base substitution T A upstream_gene_variant MELA-AU 17 78357571 78357571 single base substitution C T downstream_gene_variant MELA-AU 17 78357571 78357571 single base substitution C T exon_variant MELA-AU 17 78357571 78357571 single base substitution C T missense_variant P2795L 8384C>T MELA-AU 17 78357571 78357571 single base substitution C T missense_variant P4722L 14165C>T MELA-AU 17 78357571 78357571 single base substitution C T missense_variant P4771L 14312C>T MELA-AU 17 78357571 78357571 single base substitution C T upstream_gene_variant MELA-AU 17 78358106 78358106 single base substitution C T downstream_gene_variant MELA-AU 17 78358106 78358106 single base substitution C T intron_variant MELA-AU 17 78358106 78358106 single base substitution C T upstream_gene_variant MELA-AU 17 78358605 78358605 single base substitution C T downstream_gene_variant MELA-AU 17 78358605 78358605 single base substitution C T intron_variant MELA-AU 17 78358605 78358605 single base substitution C T upstream_gene_variant MELA-AU 17 78359612 78359612 single base substitution C T downstream_gene_variant MELA-AU 17 78359612 78359612 single base substitution C T intron_variant MELA-AU 17 78359612 78359612 single base substitution C T upstream_gene_variant MELA-AU 17 78361809 78361809 single base substitution G A downstream_gene_variant MELA-AU 17 78361809 78361809 single base substitution G A intron_variant MELA-AU 17 78361809 78361809 single base substitution G A upstream_gene_variant MELA-AU 17 78362560 78362560 single base substitution C T downstream_gene_variant MELA-AU 17 78362560 78362560 single base substitution C T exon_variant MELA-AU 17 78362560 78362560 single base substitution C T intron_variant MELA-AU 17 78363262 78363262 single base substitution G A downstream_gene_variant MELA-AU 17 78363262 78363262 single base substitution G A intron_variant MELA-AU 17 78364106 78364106 single base substitution C T downstream_gene_variant MELA-AU 17 78364106 78364106 single base substitution C T intron_variant MELA-AU 17 78364944 78364944 single base substitution A G downstream_gene_variant MELA-AU 17 78364944 78364944 single base substitution A G intron_variant MELA-AU 17 78365546 78365546 single base substitution G A downstream_gene_variant MELA-AU 17 78365546 78365546 single base substitution G A intron_variant MELA-AU 17 78365680 78365680 single base substitution C T downstream_gene_variant MELA-AU 17 78365680 78365680 single base substitution C T intron_variant MELA-AU 17 78366133 78366133 single base substitution C T downstream_gene_variant MELA-AU 17 78366133 78366133 single base substitution C T intron_variant MELA-AU 17 78366459 78366460 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 78366459 78366460 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78366480 78366480 single base substitution C T downstream_gene_variant MELA-AU 17 78366480 78366480 single base substitution C T intron_variant MELA-AU 17 78366888 78366888 single base substitution C A downstream_gene_variant MELA-AU 17 78366888 78366888 single base substitution C A intron_variant MELA-AU 17 78368030 78368030 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78368030 78368030 single base substitution C T downstream_gene_variant MELA-AU 17 78368030 78368030 single base substitution C T exon_variant MELA-AU 17 78368365 78368365 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78368365 78368365 single base substitution C T downstream_gene_variant MELA-AU 17 78368365 78368365 single base substitution C T exon_variant MELA-AU 17 78369049 78369049 single base substitution A G 3_prime_UTR_variant MELA-AU 17 78369049 78369049 single base substitution A G exon_variant MELA-AU 17 78369604 78369604 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78369604 78369604 single base substitution C T downstream_gene_variant MELA-AU 17 78369604 78369604 single base substitution C T exon_variant MELA-AU 17 78372431 78372431 single base substitution G A 3_prime_UTR_variant MELA-AU 17 78372431 78372431 single base substitution G A downstream_gene_variant MELA-AU 17 78372512 78372513 deletion of <=200bp AG - 3_prime_UTR_variant MELA-AU 17 78372512 78372513 deletion of <=200bp AG - downstream_gene_variant MELA-AU 17 78373061 78373061 single base substitution G A downstream_gene_variant MELA-AU 17 78373117 78373117 single base substitution G A downstream_gene_variant MELA-AU 17 78373963 78373963 single base substitution G A downstream_gene_variant MELA-AU 17 78374059 78374059 single base substitution G A downstream_gene_variant MELA-AU 17 78375163 78375163 single base substitution C T downstream_gene_variant MELA-AU 17 78375673 78375674 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 78376244 78376245 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 78376318 78376318 single base substitution G A downstream_gene_variant MELA-AU 17 78376716 78376717 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 78377080 78377080 single base substitution C T downstream_gene_variant ORCA-IN 17 78231259 78231279 deletion of <=200bp ATGAGTATTAGGCTTACATGT - upstream_gene_variant ORCA-IN 17 78237634 78237634 single base substitution C G intron_variant ORCA-IN 17 78246681 78246681 single base substitution C T intron_variant ORCA-IN 17 78250507 78250507 single base substitution C T intron_variant ORCA-IN 17 78259486 78259486 deletion of <=200bp G - intron_variant ORCA-IN 17 78259486 78259486 deletion of <=200bp G - upstream_gene_variant ORCA-IN 17 78261817 78261817 single base substitution C A exon_variant ORCA-IN 17 78261817 78261817 single base substitution C A synonymous_variant T155T 465C>A ORCA-IN 17 78261817 78261817 single base substitution C A synonymous_variant T204T 612C>A ORCA-IN 17 78261817 78261817 single base substitution C A upstream_gene_variant ORCA-IN 17 78278339 78278351 deletion of <=200bp CTGAGGCAGGAGA - intron_variant ORCA-IN 17 78282862 78282862 single base substitution T C exon_variant ORCA-IN 17 78282862 78282862 single base substitution T C missense_variant L849P 2546T>C ORCA-IN 17 78282862 78282862 single base substitution T C missense_variant L898P 2693T>C ORCA-IN 17 78287292 78287292 single base substitution T G intron_variant ORCA-IN 17 78305879 78305879 single base substitution G A exon_variant ORCA-IN 17 78305879 78305879 single base substitution G A synonymous_variant V1197V 3591G>A ORCA-IN 17 78305879 78305879 single base substitution G A synonymous_variant V1246V 3738G>A ORCA-IN 17 78315790 78315790 single base substitution G A downstream_gene_variant ORCA-IN 17 78315790 78315790 single base substitution G A intron_variant ORCA-IN 17 78316985 78316985 single base substitution G A downstream_gene_variant ORCA-IN 17 78316985 78316985 single base substitution G A missense_variant V2015M 6043G>A ORCA-IN 17 78316985 78316985 single base substitution G A missense_variant V2064M 6190G>A ORCA-IN 17 78316985 78316985 single base substitution G A missense_variant V88M 262G>A ORCA-IN 17 78320941 78320941 single base substitution G T missense_variant A1009S 3025G>T ORCA-IN 17 78320941 78320941 single base substitution G T missense_variant A2936S 8806G>T ORCA-IN 17 78320941 78320941 single base substitution G T missense_variant A2985S 8953G>T ORCA-IN 17 78326977 78326977 single base substitution G A intron_variant ORCA-IN 17 78326977 78326977 single base substitution G A upstream_gene_variant ORCA-IN 17 78346378 78346378 single base substitution G T exon_variant ORCA-IN 17 78346378 78346378 single base substitution G T stop_gained E2272* 6814G>T ORCA-IN 17 78346378 78346378 single base substitution G T stop_gained E4199* 12595G>T ORCA-IN 17 78346378 78346378 single base substitution G T stop_gained E4248* 12742G>T ORCA-IN 17 78346378 78346378 single base substitution G T upstream_gene_variant ORCA-IN 17 78349275 78349275 single base substitution G A downstream_gene_variant ORCA-IN 17 78349275 78349275 single base substitution G A intron_variant ORCA-IN 17 78349275 78349275 single base substitution G A upstream_gene_variant ORCA-IN 17 78353411 78353411 single base substitution T C downstream_gene_variant ORCA-IN 17 78353411 78353411 single base substitution T C exon_variant ORCA-IN 17 78353411 78353411 single base substitution T C intron_variant ORCA-IN 17 78353411 78353411 single base substitution T C upstream_gene_variant ORCA-IN 17 78354648 78354648 single base substitution C A downstream_gene_variant ORCA-IN 17 78354648 78354648 single base substitution C A exon_variant ORCA-IN 17 78354648 78354648 single base substitution C A missense_variant T2626K 7877C>A ORCA-IN 17 78354648 78354648 single base substitution C A missense_variant T4553K 13658C>A ORCA-IN 17 78354648 78354648 single base substitution C A missense_variant T4602K 13805C>A ORCA-IN 17 78354648 78354648 single base substitution C A upstream_gene_variant ORCA-IN 17 78361818 78361818 single base substitution G T downstream_gene_variant ORCA-IN 17 78361818 78361818 single base substitution G T intron_variant ORCA-IN 17 78361818 78361818 single base substitution G T upstream_gene_variant OV-AU 17 78243952 78243952 single base substitution G A intron_variant OV-AU 17 78249888 78249888 single base substitution T A intron_variant OV-AU 17 78252658 78252658 single base substitution G A intron_variant OV-AU 17 78252658 78252658 single base substitution G A synonymous_variant Q119Q 357G>A OV-AU 17 78269410 78269410 single base substitution C T downstream_gene_variant OV-AU 17 78269410 78269410 single base substitution C T exon_variant OV-AU 17 78269410 78269410 single base substitution C T synonymous_variant D603D 1809C>T OV-AU 17 78269410 78269410 single base substitution C T synonymous_variant D652D 1956C>T OV-AU 17 78269410 78269410 single base substitution C T upstream_gene_variant OV-AU 17 78273278 78273278 single base substitution C T downstream_gene_variant OV-AU 17 78273278 78273278 single base substitution C T intron_variant OV-AU 17 78281135 78281135 single base substitution C G intron_variant OV-AU 17 78282550 78282550 single base substitution C T intron_variant OV-AU 17 78283332 78283332 single base substitution G C intron_variant OV-AU 17 78285411 78285411 single base substitution C T intron_variant OV-AU 17 78290783 78290783 single base substitution G T intron_variant OV-AU 17 78291214 78291214 single base substitution G C intron_variant OV-AU 17 78291657 78291657 single base substitution C T intron_variant OV-AU 17 78309570 78309570 single base substitution G A intron_variant OV-AU 17 78309570 78309570 single base substitution G A upstream_gene_variant OV-AU 17 78311666 78311666 single base substitution C A downstream_gene_variant OV-AU 17 78311666 78311666 single base substitution C A exon_variant OV-AU 17 78311666 78311666 single base substitution C A missense_variant P1568T 4702C>A OV-AU 17 78311666 78311666 single base substitution C A missense_variant P1617T 4849C>A OV-AU 17 78311666 78311666 single base substitution C A upstream_gene_variant OV-AU 17 78316532 78316532 single base substitution A T downstream_gene_variant OV-AU 17 78316532 78316532 single base substitution A T intron_variant OV-AU 17 78319432 78319432 single base substitution C G missense_variant L2433V 7297C>G OV-AU 17 78319432 78319432 single base substitution C G missense_variant L2482V 7444C>G OV-AU 17 78319432 78319432 single base substitution C G missense_variant L506V 1516C>G OV-AU 17 78319901 78319901 single base substitution C T missense_variant A2589V 7766C>T OV-AU 17 78319901 78319901 single base substitution C T missense_variant A2638V 7913C>T OV-AU 17 78319901 78319901 single base substitution C T missense_variant A662V 1985C>T OV-AU 17 78331793 78331793 single base substitution T G intron_variant OV-AU 17 78349019 78349019 single base substitution G C downstream_gene_variant OV-AU 17 78349019 78349019 single base substitution G C intron_variant OV-AU 17 78349019 78349019 single base substitution G C upstream_gene_variant OV-AU 17 78350874 78350874 single base substitution C G downstream_gene_variant OV-AU 17 78350874 78350874 single base substitution C G exon_variant OV-AU 17 78350874 78350874 single base substitution C G intron_variant OV-AU 17 78350874 78350874 single base substitution C G upstream_gene_variant OV-AU 17 78353952 78353952 single base substitution G C downstream_gene_variant OV-AU 17 78353952 78353952 single base substitution G C intron_variant OV-AU 17 78353952 78353952 single base substitution G C upstream_gene_variant OV-AU 17 78363465 78363465 single base substitution T G downstream_gene_variant OV-AU 17 78363465 78363465 single base substitution T G intron_variant OV-AU 17 78367623 78367623 single base substitution C G 3_prime_UTR_variant OV-AU 17 78367623 78367623 single base substitution C G downstream_gene_variant OV-AU 17 78367623 78367623 single base substitution C G exon_variant OV-AU 17 78373479 78373479 single base substitution G A downstream_gene_variant OV-AU 17 78377515 78377515 single base substitution A T downstream_gene_variant OV-US 17 78317686 78317686 single base substitution C G downstream_gene_variant OV-US 17 78317686 78317686 single base substitution C G missense_variant F144L 432C>G OV-US 17 78317686 78317686 single base substitution C G missense_variant F2071L 6213C>G OV-US 17 78317686 78317686 single base substitution C G missense_variant F2120L 6360C>G OV-US 17 78320139 78320139 single base substitution G T missense_variant K2668N 8004G>T OV-US 17 78320139 78320139 single base substitution G T missense_variant K2717N 8151G>T OV-US 17 78320139 78320139 single base substitution G T missense_variant K741N 2223G>T OV-US 17 78349654 78349654 single base substitution T A downstream_gene_variant OV-US 17 78349654 78349654 single base substitution T A exon_variant OV-US 17 78349654 78349654 single base substitution T A missense_variant L2463H 7388T>A OV-US 17 78349654 78349654 single base substitution T A missense_variant L4390H 13169T>A OV-US 17 78349654 78349654 single base substitution T A missense_variant L4439H 13316T>A OV-US 17 78349654 78349654 single base substitution T A upstream_gene_variant OV-US 17 78350233 78350233 single base substitution G A downstream_gene_variant OV-US 17 78350233 78350233 single base substitution G A exon_variant OV-US 17 78350233 78350233 single base substitution G A missense_variant D2513N 7537G>A OV-US 17 78350233 78350233 single base substitution G A missense_variant D4440N 13318G>A OV-US 17 78350233 78350233 single base substitution G A missense_variant D4489N 13465G>A OV-US 17 78350233 78350233 single base substitution G A upstream_gene_variant OV-US 17 78363858 78363858 single base substitution C T downstream_gene_variant OV-US 17 78363858 78363858 single base substitution C T exon_variant OV-US 17 78363858 78363858 single base substitution C T missense_variant P3184L 9551C>T OV-US 17 78363858 78363858 single base substitution C T missense_variant P5111L 15332C>T OV-US 17 78363858 78363858 single base substitution C T missense_variant P5160L 15479C>T PACA-AU 17 78244621 78244621 single base substitution T G intron_variant PACA-AU 17 78250892 78250892 single base substitution G T intron_variant PACA-AU 17 78261277 78261277 single base substitution G A intron_variant PACA-AU 17 78261277 78261277 single base substitution G A upstream_gene_variant PACA-AU 17 78266776 78266776 single base substitution G A downstream_gene_variant PACA-AU 17 78266776 78266776 single base substitution G A intron_variant PACA-AU 17 78266776 78266776 single base substitution G A upstream_gene_variant PACA-AU 17 78268639 78268639 single base substitution C T downstream_gene_variant PACA-AU 17 78268639 78268639 single base substitution C T exon_variant PACA-AU 17 78268639 78268639 single base substitution C T missense_variant A531V 1592C>T PACA-AU 17 78268639 78268639 single base substitution C T missense_variant A580V 1739C>T PACA-AU 17 78268639 78268639 single base substitution C T upstream_gene_variant PACA-AU 17 78270144 78270144 single base substitution C T downstream_gene_variant PACA-AU 17 78270144 78270144 single base substitution C T intron_variant PACA-AU 17 78279418 78279418 single base substitution T C intron_variant PACA-AU 17 78279699 78279699 single base substitution G A intron_variant PACA-AU 17 78281659 78281659 single base substitution T G intron_variant PACA-AU 17 78295536 78295536 insertion of <=200bp - T downstream_gene_variant PACA-AU 17 78295536 78295536 insertion of <=200bp - T intron_variant PACA-AU 17 78299959 78299959 single base substitution C T downstream_gene_variant PACA-AU 17 78299959 78299959 single base substitution C T intron_variant PACA-AU 17 78304672 78304672 single base substitution C T intron_variant PACA-AU 17 78315228 78315228 single base substitution G A downstream_gene_variant PACA-AU 17 78315228 78315228 single base substitution G A intron_variant PACA-AU 17 78317043 78317043 single base substitution G A downstream_gene_variant PACA-AU 17 78317043 78317043 single base substitution G A missense_variant R107Q 320G>A PACA-AU 17 78317043 78317043 single base substitution G A missense_variant R2034Q 6101G>A PACA-AU 17 78317043 78317043 single base substitution G A missense_variant R2083Q 6248G>A PACA-AU 17 78319444 78319444 single base substitution C T missense_variant R2437W 7309C>T PACA-AU 17 78319444 78319444 single base substitution C T missense_variant R2486W 7456C>T PACA-AU 17 78319444 78319444 single base substitution C T missense_variant R510W 1528C>T PACA-AU 17 78321447 78321447 deletion of <=200bp C - frameshift_variant N1177 PACA-AU 17 78321447 78321447 deletion of <=200bp C - frameshift_variant N3104 PACA-AU 17 78321447 78321447 deletion of <=200bp C - frameshift_variant N3153 PACA-AU 17 78321477 78321477 single base substitution C T synonymous_variant D1187D 3561C>T PACA-AU 17 78321477 78321477 single base substitution C T synonymous_variant D3114D 9342C>T PACA-AU 17 78321477 78321477 single base substitution C T synonymous_variant D3163D 9489C>T PACA-AU 17 78323017 78323017 single base substitution G A intron_variant PACA-AU 17 78323017 78323017 single base substitution G A upstream_gene_variant PACA-AU 17 78323880 78323880 single base substitution C T intron_variant PACA-AU 17 78323880 78323880 single base substitution C T upstream_gene_variant PACA-AU 17 78324987 78324987 single base substitution G C intron_variant PACA-AU 17 78324987 78324987 single base substitution G C upstream_gene_variant PACA-AU 17 78328402 78328402 single base substitution G A intron_variant PACA-AU 17 78334094 78334094 single base substitution T C exon_variant PACA-AU 17 78334094 78334094 single base substitution T C intron_variant PACA-AU 17 78334094 78334094 single base substitution T C upstream_gene_variant PACA-AU 17 78335484 78335484 single base substitution C T downstream_gene_variant PACA-AU 17 78335484 78335484 single base substitution C T intron_variant PACA-AU 17 78335484 78335484 single base substitution C T upstream_gene_variant PACA-AU 17 78335673 78335673 single base substitution G A downstream_gene_variant PACA-AU 17 78335673 78335673 single base substitution G A exon_variant PACA-AU 17 78335673 78335673 single base substitution G A synonymous_variant T1853T 5559G>A PACA-AU 17 78335673 78335673 single base substitution G A synonymous_variant T3780T 11340G>A PACA-AU 17 78335673 78335673 single base substitution G A synonymous_variant T3829T 11487G>A PACA-AU 17 78335673 78335673 single base substitution G A upstream_gene_variant PACA-AU 17 78336721 78336721 single base substitution G A downstream_gene_variant PACA-AU 17 78336721 78336721 single base substitution G A intron_variant PACA-AU 17 78336721 78336721 single base substitution G A upstream_gene_variant PACA-AU 17 78338887 78338887 single base substitution G A downstream_gene_variant PACA-AU 17 78338887 78338887 single base substitution G A exon_variant PACA-AU 17 78338887 78338887 single base substitution G A intron_variant PACA-AU 17 78341450 78341450 single base substitution G A downstream_gene_variant PACA-AU 17 78341450 78341450 single base substitution G A intron_variant PACA-AU 17 78341450 78341450 single base substitution G A upstream_gene_variant PACA-AU 17 78346648 78346648 single base substitution C A intron_variant PACA-AU 17 78346648 78346648 single base substitution C A upstream_gene_variant PACA-AU 17 78346659 78346659 single base substitution G A intron_variant PACA-AU 17 78346659 78346659 single base substitution G A upstream_gene_variant PACA-AU 17 78349305 78349305 single base substitution G T downstream_gene_variant PACA-AU 17 78349305 78349305 single base substitution G T intron_variant PACA-AU 17 78349305 78349305 single base substitution G T upstream_gene_variant PACA-AU 17 78350667 78350667 single base substitution C G downstream_gene_variant PACA-AU 17 78350667 78350667 single base substitution C G intron_variant PACA-AU 17 78350667 78350667 single base substitution C G upstream_gene_variant PACA-AU 17 78354101 78354101 single base substitution C T downstream_gene_variant PACA-AU 17 78354101 78354101 single base substitution C T intron_variant PACA-AU 17 78354101 78354101 single base substitution C T upstream_gene_variant PACA-AU 17 78354648 78354648 single base substitution C T downstream_gene_variant PACA-AU 17 78354648 78354648 single base substitution C T exon_variant PACA-AU 17 78354648 78354648 single base substitution C T missense_variant T2626M 7877C>T PACA-AU 17 78354648 78354648 single base substitution C T missense_variant T4553M 13658C>T PACA-AU 17 78354648 78354648 single base substitution C T missense_variant T4602M 13805C>T PACA-AU 17 78354648 78354648 single base substitution C T upstream_gene_variant PACA-AU 17 78365085 78365085 deletion of <=200bp T - downstream_gene_variant PACA-AU 17 78365085 78365085 deletion of <=200bp T - intron_variant PACA-AU 17 78374057 78374057 single base substitution C T downstream_gene_variant PACA-AU 17 78374645 78374645 single base substitution C T downstream_gene_variant PACA-CA 17 78242235 78242235 single base substitution A G intron_variant PACA-CA 17 78242951 78242951 single base substitution G A intron_variant PACA-CA 17 78243908 78243908 single base substitution C T intron_variant PACA-CA 17 78244231 78244231 single base substitution T C intron_variant PACA-CA 17 78244976 78244976 single base substitution C T intron_variant PACA-CA 17 78245000 78245000 single base substitution C T intron_variant PACA-CA 17 78249860 78249860 insertion of <=200bp - TTTA intron_variant PACA-CA 17 78249880 78249880 single base substitution A T intron_variant PACA-CA 17 78250407 78250407 single base substitution A G intron_variant PACA-CA 17 78250872 78250872 insertion of <=200bp - A intron_variant PACA-CA 17 78252620 78252620 single base substitution G C intron_variant PACA-CA 17 78252620 78252620 single base substitution G C missense_variant E107Q 319G>C PACA-CA 17 78252984 78252984 single base substitution G A intron_variant PACA-CA 17 78261032 78261032 single base substitution C T intron_variant PACA-CA 17 78261032 78261032 single base substitution C T upstream_gene_variant PACA-CA 17 78261042 78261042 single base substitution C A intron_variant PACA-CA 17 78261042 78261042 single base substitution C A upstream_gene_variant PACA-CA 17 78261174 78261174 single base substitution C T intron_variant PACA-CA 17 78261174 78261174 single base substitution C T upstream_gene_variant PACA-CA 17 78262139 78262151 deletion of <=200bp CAGGCAGGGGCCT - exon_variant PACA-CA 17 78262139 78262151 deletion of <=200bp CAGGCAGGGGCCT - frameshift_variant QAGAS263 PACA-CA 17 78262139 78262151 deletion of <=200bp CAGGCAGGGGCCT - frameshift_variant QAGAS312 PACA-CA 17 78262139 78262151 deletion of <=200bp CAGGCAGGGGCCT - upstream_gene_variant PACA-CA 17 78262920 78262920 single base substitution C T intron_variant PACA-CA 17 78262920 78262920 single base substitution C T upstream_gene_variant PACA-CA 17 78263421 78263421 single base substitution C T intron_variant PACA-CA 17 78263421 78263421 single base substitution C T upstream_gene_variant PACA-CA 17 78264218 78264218 single base substitution G T intron_variant PACA-CA 17 78264284 78264284 single base substitution A C intron_variant PACA-CA 17 78266634 78266634 single base substitution G A downstream_gene_variant PACA-CA 17 78266634 78266634 single base substitution G A intron_variant PACA-CA 17 78266634 78266634 single base substitution G A upstream_gene_variant PACA-CA 17 78270941 78270941 single base substitution C T intron_variant PACA-CA 17 78274758 78274758 single base substitution G A downstream_gene_variant PACA-CA 17 78274758 78274758 single base substitution G A intron_variant PACA-CA 17 78282911 78282911 single base substitution C T exon_variant PACA-CA 17 78282911 78282911 single base substitution C T synonymous_variant Y865Y 2595C>T PACA-CA 17 78282911 78282911 single base substitution C T synonymous_variant Y914Y 2742C>T PACA-CA 17 78287601 78287609 deletion of <=200bp TGGAGGTAA - intron_variant PACA-CA 17 78287895 78287895 single base substitution A T intron_variant PACA-CA 17 78287990 78287990 single base substitution A G intron_variant PACA-CA 17 78293246 78293246 single base substitution C T intron_variant PACA-CA 17 78293246 78293246 single base substitution C T missense_variant S1053F 3158C>T PACA-CA 17 78294145 78294145 single base substitution G T 3_prime_UTR_variant PACA-CA 17 78294145 78294145 single base substitution G T intron_variant PACA-CA 17 78296798 78296798 single base substitution T C downstream_gene_variant PACA-CA 17 78296798 78296798 single base substitution T C intron_variant PACA-CA 17 78297634 78297634 insertion of <=200bp - GGC downstream_gene_variant PACA-CA 17 78297634 78297634 insertion of <=200bp - GGC intron_variant PACA-CA 17 78298086 78298086 deletion of <=200bp T - downstream_gene_variant PACA-CA 17 78298086 78298086 deletion of <=200bp T - intron_variant PACA-CA 17 78301809 78301809 single base substitution G A intron_variant PACA-CA 17 78305485 78305485 single base substitution G A intron_variant PACA-CA 17 78308571 78308571 single base substitution C T intron_variant PACA-CA 17 78308571 78308571 single base substitution C T upstream_gene_variant PACA-CA 17 78309219 78309219 single base substitution C T intron_variant PACA-CA 17 78309219 78309219 single base substitution C T upstream_gene_variant PACA-CA 17 78311567 78311567 single base substitution G T downstream_gene_variant PACA-CA 17 78311567 78311567 single base substitution G T intron_variant PACA-CA 17 78311567 78311567 single base substitution G T upstream_gene_variant PACA-CA 17 78313098 78313098 deletion of <=200bp C - downstream_gene_variant PACA-CA 17 78313098 78313098 deletion of <=200bp C - exon_variant PACA-CA 17 78313098 78313098 deletion of <=200bp C - frameshift_variant S1644 PACA-CA 17 78313098 78313098 deletion of <=200bp C - frameshift_variant S1693 PACA-CA 17 78313098 78313098 deletion of <=200bp C - upstream_gene_variant PACA-CA 17 78313106 78313128 deletion of <=200bp CAGGGTGTGTCCCTCCAAATGGA - downstream_gene_variant PACA-CA 17 78313106 78313128 deletion of <=200bp CAGGGTGTGTCCCTCCAAATGGA - exon_variant PACA-CA 17 78313106 78313128 deletion of <=200bp CAGGGTGTGTCCCTCCAAATGGA - frameshift_variant QGVSLQMD1647 PACA-CA 17 78313106 78313128 deletion of <=200bp CAGGGTGTGTCCCTCCAAATGGA - frameshift_variant QGVSLQMD1696 PACA-CA 17 78313106 78313128 deletion of <=200bp CAGGGTGTGTCCCTCCAAATGGA - upstream_gene_variant PACA-CA 17 78313805 78313805 single base substitution C T downstream_gene_variant PACA-CA 17 78313805 78313805 single base substitution C T missense_variant R1880C 5638C>T PACA-CA 17 78313805 78313805 single base substitution C T missense_variant R1929C 5785C>T PACA-CA 17 78313805 78313805 single base substitution C T upstream_gene_variant PACA-CA 17 78319311 78319311 single base substitution G A synonymous_variant T2392T 7176G>A PACA-CA 17 78319311 78319311 single base substitution G A synonymous_variant T2441T 7323G>A PACA-CA 17 78319311 78319311 single base substitution G A synonymous_variant T465T 1395G>A PACA-CA 17 78321378 78321378 single base substitution C G synonymous_variant T1154T 3462C>G PACA-CA 17 78321378 78321378 single base substitution C G synonymous_variant T3081T 9243C>G PACA-CA 17 78321378 78321378 single base substitution C G synonymous_variant T3130T 9390C>G PACA-CA 17 78322926 78322926 single base substitution G A intron_variant PACA-CA 17 78322926 78322926 single base substitution G A upstream_gene_variant PACA-CA 17 78323769 78323769 single base substitution G A intron_variant PACA-CA 17 78323769 78323769 single base substitution G A upstream_gene_variant PACA-CA 17 78324618 78324618 single base substitution T A intron_variant PACA-CA 17 78324618 78324618 single base substitution T A upstream_gene_variant PACA-CA 17 78326056 78326056 single base substitution T C intron_variant PACA-CA 17 78326056 78326056 single base substitution T C upstream_gene_variant PACA-CA 17 78327881 78327881 single base substitution C G synonymous_variant L1620L 4860C>G PACA-CA 17 78327881 78327881 single base substitution C G synonymous_variant L3547L 10641C>G PACA-CA 17 78327881 78327881 single base substitution C G synonymous_variant L3596L 10788C>G PACA-CA 17 78327881 78327881 single base substitution C G upstream_gene_variant PACA-CA 17 78328293 78328293 single base substitution A G exon_variant PACA-CA 17 78328293 78328293 single base substitution A G synonymous_variant Q1666Q 4998A>G PACA-CA 17 78328293 78328293 single base substitution A G synonymous_variant Q3593Q 10779A>G PACA-CA 17 78328293 78328293 single base substitution A G synonymous_variant Q3642Q 10926A>G PACA-CA 17 78340510 78340510 single base substitution A C downstream_gene_variant PACA-CA 17 78340510 78340510 single base substitution A C intron_variant PACA-CA 17 78340510 78340510 single base substitution A C upstream_gene_variant PACA-CA 17 78341576 78341576 single base substitution C T downstream_gene_variant PACA-CA 17 78341576 78341576 single base substitution C T exon_variant PACA-CA 17 78341576 78341576 single base substitution C T missense_variant T2040M 6119C>T PACA-CA 17 78341576 78341576 single base substitution C T missense_variant T3967M 11900C>T PACA-CA 17 78341576 78341576 single base substitution C T missense_variant T4016M 12047C>T PACA-CA 17 78341576 78341576 single base substitution C T upstream_gene_variant PACA-CA 17 78348306 78348306 single base substitution G A exon_variant PACA-CA 17 78348306 78348306 single base substitution G A missense_variant G2404S 7210G>A PACA-CA 17 78348306 78348306 single base substitution G A missense_variant G4331S 12991G>A PACA-CA 17 78348306 78348306 single base substitution G A missense_variant G4380S 13138G>A PACA-CA 17 78348306 78348306 single base substitution G A missense_variant G49S 145G>A PACA-CA 17 78348306 78348306 single base substitution G A upstream_gene_variant PACA-CA 17 78352534 78352534 single base substitution G C downstream_gene_variant PACA-CA 17 78352534 78352534 single base substitution G C intron_variant PACA-CA 17 78352534 78352534 single base substitution G C upstream_gene_variant PACA-CA 17 78353871 78353871 single base substitution A G downstream_gene_variant PACA-CA 17 78353871 78353871 single base substitution A G intron_variant PACA-CA 17 78353871 78353871 single base substitution A G upstream_gene_variant PACA-CA 17 78359105 78359105 single base substitution C T downstream_gene_variant PACA-CA 17 78359105 78359105 single base substitution C T intron_variant PACA-CA 17 78359105 78359105 single base substitution C T upstream_gene_variant PACA-CA 17 78374167 78374167 single base substitution C T downstream_gene_variant PACA-CA 17 78375804 78375804 single base substitution C A downstream_gene_variant PAEN-AU 17 78247505 78247505 single base substitution A C intron_variant PAEN-AU 17 78260347 78260347 single base substitution G A intron_variant PAEN-AU 17 78260347 78260347 single base substitution G A upstream_gene_variant PAEN-AU 17 78266045 78266045 single base substitution A G downstream_gene_variant PAEN-AU 17 78266045 78266045 single base substitution A G intron_variant PAEN-AU 17 78266045 78266045 single base substitution A G upstream_gene_variant PAEN-AU 17 78287593 78287593 single base substitution G C intron_variant PAEN-AU 17 78312430 78312430 single base substitution G T downstream_gene_variant PAEN-AU 17 78312430 78312430 single base substitution G T intron_variant PAEN-AU 17 78312430 78312430 single base substitution G T upstream_gene_variant PAEN-AU 17 78342453 78342453 single base substitution G C downstream_gene_variant PAEN-AU 17 78342453 78342453 single base substitution G C intron_variant PAEN-AU 17 78342453 78342453 single base substitution G C upstream_gene_variant PAEN-AU 17 78360505 78360505 single base substitution C T downstream_gene_variant PAEN-AU 17 78360505 78360505 single base substitution C T exon_variant PAEN-AU 17 78360505 78360505 single base substitution C T synonymous_variant A2985A 8955C>T PAEN-AU 17 78360505 78360505 single base substitution C T synonymous_variant A4912A 14736C>T PAEN-AU 17 78360505 78360505 single base substitution C T synonymous_variant A4961A 14883C>T PAEN-AU 17 78360505 78360505 single base substitution C T upstream_gene_variant PAEN-IT 17 78255203 78255203 single base substitution C A intron_variant PAEN-IT 17 78282577 78282577 single base substitution T C intron_variant PAEN-IT 17 78289806 78289806 single base substitution A G intron_variant PAEN-IT 17 78331602 78331602 single base substitution C A intron_variant PBCA-DE 17 78235185 78235185 single base substitution C T intron_variant PBCA-DE 17 78255276 78255277 deletion of <=200bp CC - intron_variant PBCA-DE 17 78260033 78260033 single base substitution G A intron_variant PBCA-DE 17 78260033 78260033 single base substitution G A upstream_gene_variant PBCA-DE 17 78275229 78275229 single base substitution G T downstream_gene_variant PBCA-DE 17 78275229 78275229 single base substitution G T intron_variant PBCA-DE 17 78287687 78287687 single base substitution C A intron_variant PBCA-DE 17 78287813 78287813 single base substitution A C intron_variant PBCA-DE 17 78288129 78288131 deletion of <=200bp TGG - intron_variant PBCA-DE 17 78289608 78289608 single base substitution G A intron_variant PBCA-DE 17 78289637 78289637 single base substitution G T intron_variant PBCA-DE 17 78289798 78289800 deletion of <=200bp TAG - intron_variant PBCA-DE 17 78297779 78297780 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 17 78297779 78297780 deletion of <=200bp GT - intron_variant PBCA-DE 17 78311848 78311848 single base substitution G A downstream_gene_variant PBCA-DE 17 78311848 78311848 single base substitution G A intron_variant PBCA-DE 17 78311848 78311848 single base substitution G A upstream_gene_variant PBCA-DE 17 78316128 78316128 single base substitution C T downstream_gene_variant PBCA-DE 17 78316128 78316128 single base substitution C T intron_variant PBCA-DE 17 78318794 78318794 single base substitution G A missense_variant R2220Q 6659G>A PBCA-DE 17 78318794 78318794 single base substitution G A missense_variant R2269Q 6806G>A PBCA-DE 17 78318794 78318794 single base substitution G A missense_variant R293Q 878G>A PBCA-DE 17 78326245 78326245 single base substitution G A intron_variant PBCA-DE 17 78326245 78326245 single base substitution G A upstream_gene_variant PBCA-DE 17 78329214 78329214 single base substitution C T intron_variant PBCA-DE 17 78329286 78329286 single base substitution A G intron_variant PBCA-DE 17 78329322 78329322 deletion of <=200bp C - intron_variant PBCA-DE 17 78329477 78329477 insertion of <=200bp - AAGAAGCGAC intron_variant PBCA-DE 17 78329493 78329493 single base substitution C T intron_variant PBCA-DE 17 78339237 78339237 single base substitution G T downstream_gene_variant PBCA-DE 17 78339237 78339237 single base substitution G T intron_variant PBCA-DE 17 78344368 78344368 single base substitution G A intron_variant PBCA-DE 17 78344368 78344368 single base substitution G A upstream_gene_variant PBCA-DE 17 78344568 78344568 single base substitution G A intron_variant PBCA-DE 17 78344568 78344568 single base substitution G A upstream_gene_variant PBCA-DE 17 78347825 78347825 single base substitution G A intron_variant PBCA-DE 17 78347825 78347825 single base substitution G A upstream_gene_variant PBCA-DE 17 78351813 78351813 single base substitution G A downstream_gene_variant PBCA-DE 17 78351813 78351813 single base substitution G A intron_variant PBCA-DE 17 78351813 78351813 single base substitution G A upstream_gene_variant PBCA-DE 17 78356782 78356782 single base substitution T C downstream_gene_variant PBCA-DE 17 78356782 78356782 single base substitution T C exon_variant PBCA-DE 17 78356782 78356782 single base substitution T C missense_variant L2734P 8201T>C PBCA-DE 17 78356782 78356782 single base substitution T C missense_variant L4661P 13982T>C PBCA-DE 17 78356782 78356782 single base substitution T C missense_variant L4710P 14129T>C PBCA-DE 17 78356782 78356782 single base substitution T C upstream_gene_variant PBCA-DE 17 78365820 78365820 single base substitution G A downstream_gene_variant PBCA-DE 17 78365820 78365820 single base substitution G A intron_variant PBCA-DE 17 78371138 78371138 single base substitution G A 3_prime_UTR_variant PBCA-DE 17 78371138 78371138 single base substitution G A downstream_gene_variant PBCA-DE 17 78375770 78375770 insertion of <=200bp - CCTCATA downstream_gene_variant PBCA-DE 17 78376056 78376056 single base substitution G A downstream_gene_variant PRAD-CA 17 78238081 78238081 single base substitution G A intron_variant PRAD-CA 17 78238407 78238407 single base substitution C T intron_variant PRAD-CA 17 78252636 78252636 single base substitution T C intron_variant PRAD-CA 17 78252636 78252636 single base substitution T C missense_variant I112T 335T>C PRAD-CA 17 78289778 78289778 single base substitution C G intron_variant PRAD-CA 17 78296387 78296387 single base substitution T A downstream_gene_variant PRAD-CA 17 78296387 78296387 single base substitution T A intron_variant PRAD-CA 17 78298925 78298925 single base substitution C T downstream_gene_variant PRAD-CA 17 78298925 78298925 single base substitution C T exon_variant PRAD-CA 17 78298925 78298925 single base substitution C T synonymous_variant T1040T 3120C>T PRAD-CA 17 78298925 78298925 single base substitution C T synonymous_variant T1089T 3267C>T PRAD-CA 17 78329235 78329235 single base substitution T C intron_variant PRAD-CA 17 78329305 78329305 single base substitution C A intron_variant PRAD-CA 17 78332817 78332817 single base substitution G A intron_variant PRAD-CA 17 78332817 78332817 single base substitution G A upstream_gene_variant PRAD-CA 17 78334623 78334623 single base substitution G A downstream_gene_variant PRAD-CA 17 78334623 78334623 single base substitution G A intron_variant PRAD-CA 17 78334623 78334623 single base substitution G A upstream_gene_variant PRAD-CA 17 78341789 78341789 single base substitution C G downstream_gene_variant PRAD-CA 17 78341789 78341789 single base substitution C G exon_variant PRAD-CA 17 78341789 78341789 single base substitution C G missense_variant L2074V 6220C>G PRAD-CA 17 78341789 78341789 single base substitution C G missense_variant L4001V 12001C>G PRAD-CA 17 78341789 78341789 single base substitution C G missense_variant L4050V 12148C>G PRAD-CA 17 78341789 78341789 single base substitution C G upstream_gene_variant PRAD-CA 17 78361771 78361771 single base substitution T C downstream_gene_variant PRAD-CA 17 78361771 78361771 single base substitution T C intron_variant PRAD-CA 17 78361771 78361771 single base substitution T C upstream_gene_variant PRAD-CA 17 78367287 78367287 single base substitution G A downstream_gene_variant PRAD-CA 17 78367287 78367287 single base substitution G A exon_variant PRAD-CA 17 78367287 78367287 single base substitution G A missense_variant E3278K 9832G>A PRAD-CA 17 78367287 78367287 single base substitution G A missense_variant E5205K 15613G>A PRAD-CA 17 78367287 78367287 single base substitution G A missense_variant E5254K 15760G>A PRAD-CA 17 78368279 78368279 single base substitution G A 3_prime_UTR_variant PRAD-CA 17 78368279 78368279 single base substitution G A downstream_gene_variant PRAD-CA 17 78368279 78368279 single base substitution G A exon_variant PRAD-CA 17 78370639 78370639 single base substitution G A 3_prime_UTR_variant PRAD-CA 17 78370639 78370639 single base substitution G A downstream_gene_variant PRAD-CA 17 78371136 78371136 single base substitution G T 3_prime_UTR_variant PRAD-CA 17 78371136 78371136 single base substitution G T downstream_gene_variant PRAD-CA 17 78372155 78372155 single base substitution C A 3_prime_UTR_variant PRAD-CA 17 78372155 78372155 single base substitution C A downstream_gene_variant PRAD-UK 17 78240595 78240595 single base substitution G A intron_variant PRAD-UK 17 78241613 78241613 single base substitution A G intron_variant PRAD-UK 17 78262990 78262990 single base substitution C T intron_variant PRAD-UK 17 78262990 78262990 single base substitution C T upstream_gene_variant PRAD-UK 17 78282274 78282274 insertion of <=200bp - GAGTCCCTCCT intron_variant PRAD-UK 17 78292824 78292824 single base substitution G A intron_variant PRAD-UK 17 78309205 78309205 single base substitution C A intron_variant PRAD-UK 17 78309205 78309205 single base substitution C A upstream_gene_variant PRAD-UK 17 78314665 78314665 single base substitution C T downstream_gene_variant PRAD-UK 17 78314665 78314665 single base substitution C T intron_variant PRAD-UK 17 78315096 78315096 single base substitution C T downstream_gene_variant PRAD-UK 17 78315096 78315096 single base substitution C T intron_variant PRAD-UK 17 78319966 78319966 single base substitution G A missense_variant G2611R 7831G>A PRAD-UK 17 78319966 78319966 single base substitution G A missense_variant G2660R 7978G>A PRAD-UK 17 78319966 78319966 single base substitution G A missense_variant G684R 2050G>A PRAD-UK 17 78323798 78323798 single base substitution G A intron_variant PRAD-UK 17 78323798 78323798 single base substitution G A upstream_gene_variant PRAD-UK 17 78346052 78346052 insertion of <=200bp - T intron_variant PRAD-UK 17 78346052 78346052 insertion of <=200bp - T upstream_gene_variant PRAD-UK 17 78347517 78347517 single base substitution C T intron_variant PRAD-UK 17 78347517 78347517 single base substitution C T upstream_gene_variant PRAD-UK 17 78359676 78359676 single base substitution G C downstream_gene_variant PRAD-UK 17 78359676 78359676 single base substitution G C intron_variant PRAD-UK 17 78359676 78359676 single base substitution G C upstream_gene_variant PRAD-UK 17 78366292 78366292 single base substitution T A downstream_gene_variant PRAD-UK 17 78366292 78366292 single base substitution T A intron_variant PRAD-UK 17 78366333 78366333 single base substitution T A downstream_gene_variant PRAD-UK 17 78366333 78366333 single base substitution T A intron_variant PRAD-UK 17 78366375 78366375 single base substitution T G downstream_gene_variant PRAD-UK 17 78366375 78366375 single base substitution T G intron_variant PRAD-UK 17 78367695 78367695 single base substitution C T 3_prime_UTR_variant PRAD-UK 17 78367695 78367695 single base substitution C T downstream_gene_variant PRAD-UK 17 78367695 78367695 single base substitution C T exon_variant PRAD-US 17 78314067 78314067 single base substitution A G downstream_gene_variant PRAD-US 17 78314067 78314067 single base substitution A G missense_variant Y1967C 5900A>G PRAD-US 17 78314067 78314067 single base substitution A G missense_variant Y2016C 6047A>G PRAD-US 17 78314067 78314067 single base substitution A G missense_variant Y40C 119A>G PRAD-US 17 78319445 78319445 single base substitution G A missense_variant R2437Q 7310G>A PRAD-US 17 78319445 78319445 single base substitution G A missense_variant R2486Q 7457G>A PRAD-US 17 78319445 78319445 single base substitution G A missense_variant R510Q 1529G>A PRAD-US 17 78320681 78320681 single base substitution C T missense_variant A2849V 8546C>T PRAD-US 17 78320681 78320681 single base substitution C T missense_variant A2898V 8693C>T PRAD-US 17 78320681 78320681 single base substitution C T missense_variant A922V 2765C>T PRAD-US 17 78320969 78320969 single base substitution G A missense_variant R1018H 3053G>A PRAD-US 17 78320969 78320969 single base substitution G A missense_variant R2945H 8834G>A PRAD-US 17 78320969 78320969 single base substitution G A missense_variant R2994H 8981G>A PRAD-US 17 78328255 78328255 single base substitution G A exon_variant PRAD-US 17 78328255 78328255 single base substitution G A missense_variant V1654I 4960G>A PRAD-US 17 78328255 78328255 single base substitution G A missense_variant V3581I 10741G>A PRAD-US 17 78328255 78328255 single base substitution G A missense_variant V3630I 10888G>A PRAD-US 17 78328255 78328255 single base substitution G A upstream_gene_variant PRAD-US 17 78357529 78357529 single base substitution G A downstream_gene_variant PRAD-US 17 78357529 78357529 single base substitution G A exon_variant PRAD-US 17 78357529 78357529 single base substitution G A missense_variant R2781H 8342G>A PRAD-US 17 78357529 78357529 single base substitution G A missense_variant R4708H 14123G>A PRAD-US 17 78357529 78357529 single base substitution G A missense_variant R4757H 14270G>A PRAD-US 17 78357529 78357529 single base substitution G A upstream_gene_variant PRAD-US 17 78363706 78363706 single base substitution C T downstream_gene_variant PRAD-US 17 78363706 78363706 single base substitution C T exon_variant PRAD-US 17 78363706 78363706 single base substitution C T missense_variant R3165W 9493C>T PRAD-US 17 78363706 78363706 single base substitution C T missense_variant R5092W 15274C>T PRAD-US 17 78363706 78363706 single base substitution C T missense_variant R5141W 15421C>T READ-US 17 78280265 78280265 single base substitution G A exon_variant READ-US 17 78280265 78280265 single base substitution G A synonymous_variant T808T 2424G>A READ-US 17 78280265 78280265 single base substitution G A synonymous_variant T857T 2571G>A READ-US 17 78316983 78316983 single base substitution A G downstream_gene_variant READ-US 17 78316983 78316983 single base substitution A G missense_variant N2014S 6041A>G READ-US 17 78316983 78316983 single base substitution A G missense_variant N2063S 6188A>G READ-US 17 78316983 78316983 single base substitution A G missense_variant N87S 260A>G READ-US 17 78319901 78319901 single base substitution C T missense_variant A2589V 7766C>T READ-US 17 78319901 78319901 single base substitution C T missense_variant A2638V 7913C>T READ-US 17 78319901 78319901 single base substitution C T missense_variant A662V 1985C>T READ-US 17 78320610 78320610 single base substitution C T synonymous_variant C2825C 8475C>T READ-US 17 78320610 78320610 single base substitution C T synonymous_variant C2874C 8622C>T READ-US 17 78320610 78320610 single base substitution C T synonymous_variant C898C 2694C>T READ-US 17 78324113 78324113 single base substitution G A synonymous_variant T1440T 4320G>A READ-US 17 78324113 78324113 single base substitution G A synonymous_variant T3367T 10101G>A READ-US 17 78324113 78324113 single base substitution G A synonymous_variant T3416T 10248G>A READ-US 17 78324113 78324113 single base substitution G A upstream_gene_variant READ-US 17 78341582 78341582 single base substitution G T downstream_gene_variant READ-US 17 78341582 78341582 single base substitution G T exon_variant READ-US 17 78341582 78341582 single base substitution G T missense_variant G2042V 6125G>T READ-US 17 78341582 78341582 single base substitution G T missense_variant G3969V 11906G>T READ-US 17 78341582 78341582 single base substitution G T missense_variant G4018V 12053G>T READ-US 17 78341582 78341582 single base substitution G T upstream_gene_variant READ-US 17 78350131 78350131 single base substitution G A downstream_gene_variant READ-US 17 78350131 78350131 single base substitution G A exon_variant READ-US 17 78350131 78350131 single base substitution G A missense_variant E2479K 7435G>A READ-US 17 78350131 78350131 single base substitution G A missense_variant E4406K 13216G>A READ-US 17 78350131 78350131 single base substitution G A missense_variant E4455K 13363G>A READ-US 17 78350131 78350131 single base substitution G A upstream_gene_variant READ-US 17 78357688 78357688 single base substitution G A downstream_gene_variant READ-US 17 78357688 78357688 single base substitution G A exon_variant READ-US 17 78357688 78357688 single base substitution G A missense_variant G2834D 8501G>A READ-US 17 78357688 78357688 single base substitution G A missense_variant G4761D 14282G>A READ-US 17 78357688 78357688 single base substitution G A missense_variant G4810D 14429G>A READ-US 17 78357688 78357688 single base substitution G A upstream_gene_variant READ-US 17 78363907 78363907 single base substitution C T downstream_gene_variant READ-US 17 78363907 78363907 single base substitution C T exon_variant READ-US 17 78363907 78363907 single base substitution C T synonymous_variant D3200D 9600C>T READ-US 17 78363907 78363907 single base substitution C T synonymous_variant D5127D 15381C>T READ-US 17 78363907 78363907 single base substitution C T synonymous_variant D5176D 15528C>T RECA-EU 17 78232416 78232416 single base substitution A T upstream_gene_variant RECA-EU 17 78244072 78244072 single base substitution T A intron_variant RECA-EU 17 78247826 78247826 single base substitution T A intron_variant RECA-EU 17 78256873 78256873 single base substitution A G intron_variant RECA-EU 17 78256873 78256873 single base substitution A G upstream_gene_variant RECA-EU 17 78257800 78257800 single base substitution A G intron_variant RECA-EU 17 78257800 78257800 single base substitution A G upstream_gene_variant RECA-EU 17 78265263 78265263 single base substitution C A intron_variant RECA-EU 17 78265263 78265263 single base substitution C A upstream_gene_variant RECA-EU 17 78266570 78266570 single base substitution T C downstream_gene_variant RECA-EU 17 78266570 78266570 single base substitution T C intron_variant RECA-EU 17 78266570 78266570 single base substitution T C upstream_gene_variant RECA-EU 17 78274520 78274520 single base substitution T A downstream_gene_variant RECA-EU 17 78274520 78274520 single base substitution T A intron_variant RECA-EU 17 78281163 78281163 single base substitution T C intron_variant RECA-EU 17 78290215 78290215 single base substitution G A intron_variant RECA-EU 17 78290830 78290830 single base substitution A G intron_variant RECA-EU 17 78293973 78293973 single base substitution A C 3_prime_UTR_variant RECA-EU 17 78293973 78293973 single base substitution A C intron_variant RECA-EU 17 78297659 78297659 single base substitution A C downstream_gene_variant RECA-EU 17 78297659 78297659 single base substitution A C intron_variant RECA-EU 17 78301659 78301659 single base substitution G C exon_variant RECA-EU 17 78301659 78301659 single base substitution G C missense_variant K1079N 3237G>C RECA-EU 17 78301659 78301659 single base substitution G C missense_variant K1128N 3384G>C RECA-EU 17 78306768 78306768 single base substitution T C intron_variant RECA-EU 17 78306768 78306768 single base substitution T C upstream_gene_variant RECA-EU 17 78317270 78317270 single base substitution A T downstream_gene_variant RECA-EU 17 78317270 78317270 single base substitution A T intron_variant RECA-EU 17 78338498 78338498 single base substitution A G downstream_gene_variant RECA-EU 17 78338498 78338498 single base substitution A G intron_variant RECA-EU 17 78338720 78338720 single base substitution A G downstream_gene_variant RECA-EU 17 78338720 78338720 single base substitution A G exon_variant RECA-EU 17 78338720 78338720 single base substitution A G intron_variant RECA-EU 17 78352762 78352762 single base substitution C T downstream_gene_variant RECA-EU 17 78352762 78352762 single base substitution C T intron_variant RECA-EU 17 78352762 78352762 single base substitution C T upstream_gene_variant RECA-EU 17 78358723 78358723 single base substitution A T downstream_gene_variant RECA-EU 17 78358723 78358723 single base substitution A T exon_variant RECA-EU 17 78358723 78358723 single base substitution A T intron_variant RECA-EU 17 78358723 78358723 single base substitution A T upstream_gene_variant RECA-EU 17 78367474 78367474 single base substitution G C 3_prime_UTR_variant RECA-EU 17 78367474 78367474 single base substitution G C downstream_gene_variant RECA-EU 17 78367474 78367474 single base substitution G C exon_variant SKCA-BR 17 78232711 78232711 single base substitution G A upstream_gene_variant SKCA-BR 17 78234737 78234737 single base substitution A G intron_variant SKCA-BR 17 78235592 78235592 single base substitution T G intron_variant SKCA-BR 17 78238842 78238842 insertion of <=200bp - TTTGTTTG intron_variant SKCA-BR 17 78240369 78240369 single base substitution C T intron_variant SKCA-BR 17 78241016 78241016 insertion of <=200bp - CA intron_variant SKCA-BR 17 78242178 78242179 deletion of <=200bp AG - intron_variant SKCA-BR 17 78242179 78242179 single base substitution G A intron_variant SKCA-BR 17 78242507 78242507 single base substitution C T intron_variant SKCA-BR 17 78243014 78243014 single base substitution G A intron_variant SKCA-BR 17 78244172 78244172 single base substitution T C intron_variant SKCA-BR 17 78249863 78249863 single base substitution T C intron_variant SKCA-BR 17 78255290 78255292 deletion of <=200bp TAC - intron_variant SKCA-BR 17 78255540 78255540 single base substitution A G intron_variant SKCA-BR 17 78255957 78255957 single base substitution C T intron_variant SKCA-BR 17 78255958 78255958 single base substitution C T intron_variant SKCA-BR 17 78256432 78256432 single base substitution T C intron_variant SKCA-BR 17 78257553 78257553 single base substitution C T intron_variant SKCA-BR 17 78257553 78257553 single base substitution C T upstream_gene_variant SKCA-BR 17 78257701 78257701 single base substitution G A intron_variant SKCA-BR 17 78257701 78257701 single base substitution G A upstream_gene_variant SKCA-BR 17 78257933 78257933 single base substitution T G intron_variant SKCA-BR 17 78257933 78257933 single base substitution T G upstream_gene_variant SKCA-BR 17 78257947 78257947 single base substitution T G intron_variant SKCA-BR 17 78257947 78257947 single base substitution T G upstream_gene_variant SKCA-BR 17 78267439 78267439 single base substitution G A downstream_gene_variant SKCA-BR 17 78267439 78267439 single base substitution G A intron_variant SKCA-BR 17 78267439 78267439 single base substitution G A upstream_gene_variant SKCA-BR 17 78269218 78269218 single base substitution C T downstream_gene_variant SKCA-BR 17 78269218 78269218 single base substitution C T intron_variant SKCA-BR 17 78269218 78269218 single base substitution C T upstream_gene_variant SKCA-BR 17 78269833 78269833 single base substitution C T downstream_gene_variant SKCA-BR 17 78269833 78269833 single base substitution C T intron_variant SKCA-BR 17 78273328 78273328 single base substitution G A downstream_gene_variant SKCA-BR 17 78273328 78273328 single base substitution G A intron_variant SKCA-BR 17 78274187 78274187 single base substitution G A downstream_gene_variant SKCA-BR 17 78274187 78274187 single base substitution G A intron_variant SKCA-BR 17 78277029 78277029 single base substitution C T downstream_gene_variant SKCA-BR 17 78277029 78277029 single base substitution C T intron_variant SKCA-BR 17 78278236 78278236 single base substitution C T intron_variant SKCA-BR 17 78279405 78279405 single base substitution C T intron_variant SKCA-BR 17 78281662 78281662 single base substitution T G intron_variant SKCA-BR 17 78281752 78281752 single base substitution C T intron_variant SKCA-BR 17 78281836 78281836 single base substitution C T intron_variant SKCA-BR 17 78282679 78282679 single base substitution C T intron_variant SKCA-BR 17 78287280 78287280 single base substitution G T intron_variant SKCA-BR 17 78287290 78287291 deletion of <=200bp GT - intron_variant SKCA-BR 17 78287416 78287419 deletion of <=200bp GATT - intron_variant SKCA-BR 17 78287450 78287450 single base substitution G C intron_variant SKCA-BR 17 78287473 78287473 single base substitution A G intron_variant SKCA-BR 17 78287569 78287569 single base substitution A G intron_variant SKCA-BR 17 78287609 78287609 single base substitution A C intron_variant SKCA-BR 17 78287812 78287812 single base substitution A G intron_variant SKCA-BR 17 78287961 78287961 single base substitution A T intron_variant SKCA-BR 17 78289537 78289537 single base substitution T C intron_variant SKCA-BR 17 78289569 78289569 single base substitution C G intron_variant SKCA-BR 17 78289635 78289635 single base substitution A G intron_variant SKCA-BR 17 78289647 78289647 single base substitution G C intron_variant SKCA-BR 17 78289746 78289746 single base substitution C G intron_variant SKCA-BR 17 78295792 78295792 single base substitution G A downstream_gene_variant SKCA-BR 17 78295792 78295792 single base substitution G A intron_variant SKCA-BR 17 78296395 78296395 single base substitution C T downstream_gene_variant SKCA-BR 17 78296395 78296395 single base substitution C T intron_variant SKCA-BR 17 78304356 78304356 single base substitution C T intron_variant SKCA-BR 17 78304486 78304486 single base substitution T C intron_variant SKCA-BR 17 78305190 78305190 insertion of <=200bp - CT intron_variant SKCA-BR 17 78309776 78309777 deletion of <=200bp CA - intron_variant SKCA-BR 17 78309776 78309777 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 17 78311328 78311328 single base substitution A G downstream_gene_variant SKCA-BR 17 78311328 78311328 single base substitution A G exon_variant SKCA-BR 17 78311328 78311328 single base substitution A G intron_variant SKCA-BR 17 78311328 78311328 single base substitution A G upstream_gene_variant SKCA-BR 17 78314109 78314109 single base substitution A G downstream_gene_variant SKCA-BR 17 78314109 78314109 single base substitution A G missense_variant N1981S 5942A>G SKCA-BR 17 78314109 78314109 single base substitution A G missense_variant N2030S 6089A>G SKCA-BR 17 78314109 78314109 single base substitution A G missense_variant N54S 161A>G SKCA-BR 17 78314175 78314175 single base substitution T G downstream_gene_variant SKCA-BR 17 78314175 78314175 single base substitution T G intron_variant SKCA-BR 17 78315506 78315506 single base substitution C T downstream_gene_variant SKCA-BR 17 78315506 78315506 single base substitution C T intron_variant SKCA-BR 17 78316199 78316199 single base substitution A G downstream_gene_variant SKCA-BR 17 78316199 78316199 single base substitution A G intron_variant SKCA-BR 17 78316261 78316261 single base substitution T C downstream_gene_variant SKCA-BR 17 78316261 78316261 single base substitution T C intron_variant SKCA-BR 17 78316407 78316407 single base substitution C T downstream_gene_variant SKCA-BR 17 78316407 78316407 single base substitution C T intron_variant SKCA-BR 17 78316824 78316824 single base substitution C T downstream_gene_variant SKCA-BR 17 78316824 78316824 single base substitution C T intron_variant SKCA-BR 17 78316848 78316848 single base substitution T C downstream_gene_variant SKCA-BR 17 78316848 78316848 single base substitution T C intron_variant SKCA-BR 17 78319513 78319513 single base substitution A G missense_variant I2460V 7378A>G SKCA-BR 17 78319513 78319513 single base substitution A G missense_variant I2509V 7525A>G SKCA-BR 17 78319513 78319513 single base substitution A G missense_variant I533V 1597A>G SKCA-BR 17 78322398 78322398 single base substitution C T intron_variant SKCA-BR 17 78324305 78324305 single base substitution T A intron_variant SKCA-BR 17 78324305 78324305 single base substitution T A upstream_gene_variant SKCA-BR 17 78329624 78329624 single base substitution A G intron_variant SKCA-BR 17 78339446 78339446 single base substitution G A downstream_gene_variant SKCA-BR 17 78339446 78339446 single base substitution G A intron_variant SKCA-BR 17 78342233 78342233 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 17 78342233 78342233 insertion of <=200bp - GT intron_variant SKCA-BR 17 78342233 78342233 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 17 78347804 78347804 insertion of <=200bp - CA intron_variant SKCA-BR 17 78347804 78347804 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 17 78349657 78349657 single base substitution A C downstream_gene_variant SKCA-BR 17 78349657 78349657 single base substitution A C exon_variant SKCA-BR 17 78349657 78349657 single base substitution A C missense_variant H2464P 7391A>C SKCA-BR 17 78349657 78349657 single base substitution A C missense_variant H4391P 13172A>C SKCA-BR 17 78349657 78349657 single base substitution A C missense_variant H4440P 13319A>C SKCA-BR 17 78349657 78349657 single base substitution A C upstream_gene_variant SKCA-BR 17 78350236 78350236 single base substitution G A downstream_gene_variant SKCA-BR 17 78350236 78350236 single base substitution G A exon_variant SKCA-BR 17 78350236 78350236 single base substitution G A missense_variant G2514R 7540G>A SKCA-BR 17 78350236 78350236 single base substitution G A missense_variant G4441R 13321G>A SKCA-BR 17 78350236 78350236 single base substitution G A missense_variant G4490R 13468G>A SKCA-BR 17 78350236 78350236 single base substitution G A upstream_gene_variant SKCA-BR 17 78350237 78350237 single base substitution G A downstream_gene_variant SKCA-BR 17 78350237 78350237 single base substitution G A exon_variant SKCA-BR 17 78350237 78350237 single base substitution G A missense_variant G2514E 7541G>A SKCA-BR 17 78350237 78350237 single base substitution G A missense_variant G4441E 13322G>A SKCA-BR 17 78350237 78350237 single base substitution G A missense_variant G4490E 13469G>A SKCA-BR 17 78350237 78350237 single base substitution G A upstream_gene_variant SKCA-BR 17 78358462 78358462 single base substitution G A downstream_gene_variant SKCA-BR 17 78358462 78358462 single base substitution G A intron_variant SKCA-BR 17 78358462 78358462 single base substitution G A upstream_gene_variant SKCA-BR 17 78359863 78359863 single base substitution C T downstream_gene_variant SKCA-BR 17 78359863 78359863 single base substitution C T intron_variant SKCA-BR 17 78359863 78359863 single base substitution C T upstream_gene_variant SKCA-BR 17 78360961 78360961 single base substitution C T downstream_gene_variant SKCA-BR 17 78360961 78360961 single base substitution C T intron_variant SKCA-BR 17 78360961 78360961 single base substitution C T upstream_gene_variant SKCA-BR 17 78361753 78361754 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 17 78361753 78361754 deletion of <=200bp AT - intron_variant SKCA-BR 17 78361753 78361754 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 17 78361772 78361772 single base substitution T C downstream_gene_variant SKCA-BR 17 78361772 78361772 single base substitution T C intron_variant SKCA-BR 17 78361772 78361772 single base substitution T C upstream_gene_variant SKCA-BR 17 78365895 78365895 single base substitution T A downstream_gene_variant SKCA-BR 17 78365895 78365895 single base substitution T A intron_variant SKCA-BR 17 78369290 78369290 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 78369290 78369290 single base substitution C T downstream_gene_variant SKCA-BR 17 78369290 78369290 single base substitution C T exon_variant SKCA-BR 17 78370523 78370524 deletion of <=200bp AT - 3_prime_UTR_variant SKCA-BR 17 78370523 78370524 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 17 78375062 78375062 single base substitution C T downstream_gene_variant SKCA-BR 17 78377476 78377476 single base substitution C T downstream_gene_variant SKCM-US 17 78247135 78247135 single base substitution C T missense_variant P65S 193C>T SKCM-US 17 78247198 78247198 single base substitution C T stop_gained Q86* 256C>T SKCM-US 17 78262068 78262068 single base substitution A T exon_variant SKCM-US 17 78262068 78262068 single base substitution A T missense_variant Q239L 716A>T SKCM-US 17 78262068 78262068 single base substitution A T missense_variant Q288L 863A>T SKCM-US 17 78262068 78262068 single base substitution A T upstream_gene_variant SKCM-US 17 78264460 78264460 single base substitution A T exon_variant SKCM-US 17 78264460 78264460 single base substitution A T missense_variant I402F 1204A>T SKCM-US 17 78264460 78264460 single base substitution A T missense_variant I451F 1351A>T SKCM-US 17 78264462 78264462 single base substitution C T exon_variant SKCM-US 17 78264462 78264462 single base substitution C T synonymous_variant I402I 1206C>T SKCM-US 17 78264462 78264462 single base substitution C T synonymous_variant I451I 1353C>T SKCM-US 17 78268715 78268715 single base substitution C T downstream_gene_variant SKCM-US 17 78268715 78268715 single base substitution C T exon_variant SKCM-US 17 78268715 78268715 single base substitution C T synonymous_variant F556F 1668C>T SKCM-US 17 78268715 78268715 single base substitution C T synonymous_variant F605F 1815C>T SKCM-US 17 78268715 78268715 single base substitution C T upstream_gene_variant SKCM-US 17 78268774 78268774 single base substitution G T downstream_gene_variant SKCM-US 17 78268774 78268774 single base substitution G T exon_variant SKCM-US 17 78268774 78268774 single base substitution G T missense_variant W576L 1727G>T SKCM-US 17 78268774 78268774 single base substitution G T missense_variant W625L 1874G>T SKCM-US 17 78268774 78268774 single base substitution G T upstream_gene_variant SKCM-US 17 78272221 78272221 single base substitution G T exon_variant SKCM-US 17 78272221 78272221 single base substitution G T missense_variant A705S 2113G>T SKCM-US 17 78272221 78272221 single base substitution G T missense_variant A754S 2260G>T SKCM-US 17 78272244 78272244 single base substitution G A exon_variant SKCM-US 17 78272244 78272244 single base substitution G A stop_gained W712* 2136G>A SKCM-US 17 78272244 78272244 single base substitution G A stop_gained W761* 2283G>A SKCM-US 17 78280188 78280188 single base substitution C T exon_variant SKCM-US 17 78280188 78280188 single base substitution C T missense_variant R783C 2347C>T SKCM-US 17 78280188 78280188 single base substitution C T missense_variant R832C 2494C>T SKCM-US 17 78291019 78291019 single base substitution C T exon_variant SKCM-US 17 78291019 78291019 single base substitution C T missense_variant P948L 2843C>T SKCM-US 17 78291019 78291019 single base substitution C T missense_variant P997L 2990C>T SKCM-US 17 78318516 78318516 single base substitution C T synonymous_variant F200F 600C>T SKCM-US 17 78318516 78318516 single base substitution C T synonymous_variant F2127F 6381C>T SKCM-US 17 78318516 78318516 single base substitution C T synonymous_variant F2176F 6528C>T SKCM-US 17 78319018 78319018 single base substitution C T missense_variant R2295W 6883C>T SKCM-US 17 78319018 78319018 single base substitution C T missense_variant R2344W 7030C>T SKCM-US 17 78319018 78319018 single base substitution C T missense_variant R368W 1102C>T SKCM-US 17 78319648 78319648 single base substitution C T missense_variant H2505Y 7513C>T SKCM-US 17 78319648 78319648 single base substitution C T missense_variant H2554Y 7660C>T SKCM-US 17 78319648 78319648 single base substitution C T missense_variant H578Y 1732C>T SKCM-US 17 78319813 78319813 single base substitution C T missense_variant P2560S 7678C>T SKCM-US 17 78319813 78319813 single base substitution C T missense_variant P2609S 7825C>T SKCM-US 17 78319813 78319813 single base substitution C T missense_variant P633S 1897C>T SKCM-US 17 78319950 78319950 single base substitution C T synonymous_variant I2605I 7815C>T SKCM-US 17 78319950 78319950 single base substitution C T synonymous_variant I2654I 7962C>T SKCM-US 17 78319950 78319950 single base substitution C T synonymous_variant I678I 2034C>T SKCM-US 17 78320047 78320047 single base substitution C T missense_variant L2638F 7912C>T SKCM-US 17 78320047 78320047 single base substitution C T missense_variant L2687F 8059C>T SKCM-US 17 78320047 78320047 single base substitution C T missense_variant L711F 2131C>T SKCM-US 17 78320345 78320345 single base substitution C T missense_variant P2737L 8210C>T SKCM-US 17 78320345 78320345 single base substitution C T missense_variant P2786L 8357C>T SKCM-US 17 78320345 78320345 single base substitution C T missense_variant P810L 2429C>T SKCM-US 17 78320598 78320598 single base substitution C T synonymous_variant T2821T 8463C>T SKCM-US 17 78320598 78320598 single base substitution C T synonymous_variant T2870T 8610C>T SKCM-US 17 78320598 78320598 single base substitution C T synonymous_variant T894T 2682C>T SKCM-US 17 78321333 78321333 single base substitution G A synonymous_variant P1139P 3417G>A SKCM-US 17 78321333 78321333 single base substitution G A synonymous_variant P3066P 9198G>A SKCM-US 17 78321333 78321333 single base substitution G A synonymous_variant P3115P 9345G>A SKCM-US 17 78321567 78321567 single base substitution C T synonymous_variant P1217P 3651C>T SKCM-US 17 78321567 78321567 single base substitution C T synonymous_variant P3144P 9432C>T SKCM-US 17 78321567 78321567 single base substitution C T synonymous_variant P3193P 9579C>T SKCM-US 17 78321753 78321753 single base substitution C T synonymous_variant F1279F 3837C>T SKCM-US 17 78321753 78321753 single base substitution C T synonymous_variant F3206F 9618C>T SKCM-US 17 78321753 78321753 single base substitution C T synonymous_variant F3255F 9765C>T SKCM-US 17 78321852 78321852 single base substitution C T synonymous_variant P1312P 3936C>T SKCM-US 17 78321852 78321852 single base substitution C T synonymous_variant P3239P 9717C>T SKCM-US 17 78321852 78321852 single base substitution C T synonymous_variant P3288P 9864C>T SKCM-US 17 78321960 78321960 single base substitution G T synonymous_variant L1348L 4044G>T SKCM-US 17 78321960 78321960 single base substitution G T synonymous_variant L3275L 9825G>T SKCM-US 17 78321960 78321960 single base substitution G T synonymous_variant L3324L 9972G>T SKCM-US 17 78321975 78321975 single base substitution G A synonymous_variant A1353A 4059G>A SKCM-US 17 78321975 78321975 single base substitution G A synonymous_variant A3280A 9840G>A SKCM-US 17 78321975 78321975 single base substitution G A synonymous_variant A3329A 9987G>A SKCM-US 17 78322033 78322033 single base substitution C T missense_variant L1373F 4117C>T SKCM-US 17 78322033 78322033 single base substitution C T missense_variant L3300F 9898C>T SKCM-US 17 78322033 78322033 single base substitution C T missense_variant L3349F 10045C>T SKCM-US 17 78323704 78323704 single base substitution C T splice_region_variant SKCM-US 17 78323704 78323704 single base substitution C T upstream_gene_variant SKCM-US 17 78325563 78325563 single base substitution C T synonymous_variant S1494S 4482C>T SKCM-US 17 78325563 78325563 single base substitution C T synonymous_variant S3421S 10263C>T SKCM-US 17 78325563 78325563 single base substitution C T synonymous_variant S3470S 10410C>T SKCM-US 17 78325563 78325563 single base substitution C T upstream_gene_variant SKCM-US 17 78326855 78326855 single base substitution T C synonymous_variant P1546P 4638T>C SKCM-US 17 78326855 78326855 single base substitution T C synonymous_variant P3473P 10419T>C SKCM-US 17 78326855 78326855 single base substitution T C synonymous_variant P3522P 10566T>C SKCM-US 17 78326855 78326855 single base substitution T C upstream_gene_variant SKCM-US 17 78327434 78327434 single base substitution G A missense_variant G1589R 4765G>A SKCM-US 17 78327434 78327434 single base substitution G A missense_variant G3516R 10546G>A SKCM-US 17 78327434 78327434 single base substitution G A missense_variant G3565R 10693G>A SKCM-US 17 78327434 78327434 single base substitution G A upstream_gene_variant SKCM-US 17 78336975 78336975 single base substitution C T downstream_gene_variant SKCM-US 17 78336975 78336975 single base substitution C T exon_variant SKCM-US 17 78336975 78336975 single base substitution C T missense_variant S1883F 5648C>T SKCM-US 17 78336975 78336975 single base substitution C T missense_variant S3810F 11429C>T SKCM-US 17 78336975 78336975 single base substitution C T missense_variant S3859F 11576C>T SKCM-US 17 78336975 78336975 single base substitution C T upstream_gene_variant SKCM-US 17 78337001 78337001 single base substitution C T downstream_gene_variant SKCM-US 17 78337001 78337001 single base substitution C T exon_variant SKCM-US 17 78337001 78337001 single base substitution C T stop_gained Q1892* 5674C>T SKCM-US 17 78337001 78337001 single base substitution C T stop_gained Q3819* 11455C>T SKCM-US 17 78337001 78337001 single base substitution C T stop_gained Q3868* 11602C>T SKCM-US 17 78337001 78337001 single base substitution C T upstream_gene_variant SKCM-US 17 78337016 78337016 single base substitution C T downstream_gene_variant SKCM-US 17 78337016 78337016 single base substitution C T exon_variant SKCM-US 17 78337016 78337016 single base substitution C T missense_variant R1897C 5689C>T SKCM-US 17 78337016 78337016 single base substitution C T missense_variant R3824C 11470C>T SKCM-US 17 78337016 78337016 single base substitution C T missense_variant R3873C 11617C>T SKCM-US 17 78337016 78337016 single base substitution C T upstream_gene_variant SKCM-US 17 78337018 78337018 single base substitution T C downstream_gene_variant SKCM-US 17 78337018 78337018 single base substitution T C exon_variant SKCM-US 17 78337018 78337018 single base substitution T C synonymous_variant R1897R 5691T>C SKCM-US 17 78337018 78337018 single base substitution T C synonymous_variant R3824R 11472T>C SKCM-US 17 78337018 78337018 single base substitution T C synonymous_variant R3873R 11619T>C SKCM-US 17 78337018 78337018 single base substitution T C upstream_gene_variant SKCM-US 17 78346396 78346396 single base substitution C T exon_variant SKCM-US 17 78346396 78346396 single base substitution C T missense_variant L2278F 6832C>T SKCM-US 17 78346396 78346396 single base substitution C T missense_variant L4205F 12613C>T SKCM-US 17 78346396 78346396 single base substitution C T missense_variant L4254F 12760C>T SKCM-US 17 78346396 78346396 single base substitution C T upstream_gene_variant SKCM-US 17 78350124 78350124 single base substitution C T downstream_gene_variant SKCM-US 17 78350124 78350124 single base substitution C T exon_variant SKCM-US 17 78350124 78350124 single base substitution C T synonymous_variant F2476F 7428C>T SKCM-US 17 78350124 78350124 single base substitution C T synonymous_variant F4403F 13209C>T SKCM-US 17 78350124 78350124 single base substitution C T synonymous_variant F4452F 13356C>T SKCM-US 17 78350124 78350124 single base substitution C T upstream_gene_variant SKCM-US 17 78350260 78350260 single base substitution C T downstream_gene_variant SKCM-US 17 78350260 78350260 single base substitution C T exon_variant SKCM-US 17 78350260 78350260 single base substitution C T missense_variant H2522Y 7564C>T SKCM-US 17 78350260 78350260 single base substitution C T missense_variant H4449Y 13345C>T SKCM-US 17 78350260 78350260 single base substitution C T missense_variant H4498Y 13492C>T SKCM-US 17 78350260 78350260 single base substitution C T upstream_gene_variant SKCM-US 17 78357683 78357683 single base substitution A C downstream_gene_variant SKCM-US 17 78357683 78357683 single base substitution A C exon_variant SKCM-US 17 78357683 78357683 single base substitution A C missense_variant K2832N 8496A>C SKCM-US 17 78357683 78357683 single base substitution A C missense_variant K4759N 14277A>C SKCM-US 17 78357683 78357683 single base substitution A C missense_variant K4808N 14424A>C SKCM-US 17 78357683 78357683 single base substitution A C upstream_gene_variant SKCM-US 17 78357707 78357707 deletion of <=200bp C - downstream_gene_variant SKCM-US 17 78357707 78357707 deletion of <=200bp C - exon_variant SKCM-US 17 78357707 78357707 deletion of <=200bp C - frameshift_variant I2840 SKCM-US 17 78357707 78357707 deletion of <=200bp C - frameshift_variant I4767 SKCM-US 17 78357707 78357707 deletion of <=200bp C - frameshift_variant I4816 SKCM-US 17 78357707 78357707 deletion of <=200bp C - upstream_gene_variant SKCM-US 17 78358865 78358865 single base substitution C A downstream_gene_variant SKCM-US 17 78358865 78358865 single base substitution C A exon_variant SKCM-US 17 78358865 78358865 single base substitution C A missense_variant F2856L 8568C>A SKCM-US 17 78358865 78358865 single base substitution C A missense_variant F4783L 14349C>A SKCM-US 17 78358865 78358865 single base substitution C A missense_variant F4832L 14496C>A SKCM-US 17 78358865 78358865 single base substitution C A upstream_gene_variant SKCM-US 17 78362453 78362453 single base substitution A G downstream_gene_variant SKCM-US 17 78362453 78362453 single base substitution A G exon_variant SKCM-US 17 78362453 78362453 single base substitution A G synonymous_variant E3061E 9183A>G SKCM-US 17 78362453 78362453 single base substitution A G synonymous_variant E4988E 14964A>G SKCM-US 17 78362453 78362453 single base substitution A G synonymous_variant E5037E 15111A>G STAD-US 17 78261868 78261868 insertion of <=200bp - C exon_variant STAD-US 17 78261868 78261868 insertion of <=200bp - C frameshift_variant S172S? STAD-US 17 78261868 78261868 insertion of <=200bp - C frameshift_variant S221S? STAD-US 17 78261868 78261868 insertion of <=200bp - C upstream_gene_variant STAD-US 17 78313974 78313974 single base substitution A G downstream_gene_variant STAD-US 17 78313974 78313974 single base substitution A G missense_variant H1936R 5807A>G STAD-US 17 78313974 78313974 single base substitution A G missense_variant H1985R 5954A>G STAD-US 17 78313974 78313974 single base substitution A G missense_variant H9R 26A>G STAD-US 17 78314019 78314019 deletion of <=200bp C - downstream_gene_variant STAD-US 17 78314019 78314019 deletion of <=200bp C - frameshift_variant T1951 STAD-US 17 78314019 78314019 deletion of <=200bp C - frameshift_variant T2000 STAD-US 17 78314019 78314019 deletion of <=200bp C - frameshift_variant T24 STAD-US 17 78314040 78314040 single base substitution C T downstream_gene_variant STAD-US 17 78314040 78314040 single base substitution C T missense_variant A1958V 5873C>T STAD-US 17 78314040 78314040 single base substitution C T missense_variant A2007V 6020C>T STAD-US 17 78314040 78314040 single base substitution C T missense_variant A31V 92C>T STAD-US 17 78317021 78317021 single base substitution G A downstream_gene_variant STAD-US 17 78317021 78317021 single base substitution G A missense_variant D100N 298G>A STAD-US 17 78317021 78317021 single base substitution G A missense_variant D2027N 6079G>A STAD-US 17 78317021 78317021 single base substitution G A missense_variant D2076N 6226G>A STAD-US 17 78317076 78317076 single base substitution C T downstream_gene_variant STAD-US 17 78317076 78317076 single base substitution C T missense_variant A118V 353C>T STAD-US 17 78317076 78317076 single base substitution C T missense_variant A2045V 6134C>T STAD-US 17 78317076 78317076 single base substitution C T missense_variant A2094V 6281C>T STAD-US 17 78317675 78317675 single base substitution G C downstream_gene_variant STAD-US 17 78317675 78317675 single base substitution G C missense_variant V141L 421G>C STAD-US 17 78317675 78317675 single base substitution G C missense_variant V2068L 6202G>C STAD-US 17 78317675 78317675 single base substitution G C missense_variant V2117L 6349G>C STAD-US 17 78318484 78318484 single base substitution C T missense_variant R190C 568C>T STAD-US 17 78318484 78318484 single base substitution C T missense_variant R2117C 6349C>T STAD-US 17 78318484 78318484 single base substitution C T missense_variant R2166C 6496C>T STAD-US 17 78318781 78318781 single base substitution C T missense_variant R2216W 6646C>T STAD-US 17 78318781 78318781 single base substitution C T missense_variant R2265W 6793C>T STAD-US 17 78318781 78318781 single base substitution C T missense_variant R289W 865C>T STAD-US 17 78319303 78319303 single base substitution G A missense_variant D2390N 7168G>A STAD-US 17 78319303 78319303 single base substitution G A missense_variant D2439N 7315G>A STAD-US 17 78319303 78319303 single base substitution G A missense_variant D463N 1387G>A STAD-US 17 78319326 78319326 single base substitution C A synonymous_variant T2397T 7191C>A STAD-US 17 78319326 78319326 single base substitution C A synonymous_variant T2446T 7338C>A STAD-US 17 78319326 78319326 single base substitution C A synonymous_variant T470T 1410C>A STAD-US 17 78319491 78319491 single base substitution C T synonymous_variant H2452H 7356C>T STAD-US 17 78319491 78319491 single base substitution C T synonymous_variant H2501H 7503C>T STAD-US 17 78319491 78319491 single base substitution C T synonymous_variant H525H 1575C>T STAD-US 17 78320622 78320622 single base substitution G A synonymous_variant Q2829Q 8487G>A STAD-US 17 78320622 78320622 single base substitution G A synonymous_variant Q2878Q 8634G>A STAD-US 17 78320622 78320622 single base substitution G A synonymous_variant Q902Q 2706G>A STAD-US 17 78320825 78320825 single base substitution G A missense_variant G2897D 8690G>A STAD-US 17 78320825 78320825 single base substitution G A missense_variant G2946D 8837G>A STAD-US 17 78320825 78320825 single base substitution G A missense_variant G970D 2909G>A STAD-US 17 78321073 78321073 single base substitution G T missense_variant A1053S 3157G>T STAD-US 17 78321073 78321073 single base substitution G T missense_variant A2980S 8938G>T STAD-US 17 78321073 78321073 single base substitution G T missense_variant A3029S 9085G>T STAD-US 17 78321528 78321528 single base substitution C T synonymous_variant L1204L 3612C>T STAD-US 17 78321528 78321528 single base substitution C T synonymous_variant L3131L 9393C>T STAD-US 17 78321528 78321528 single base substitution C T synonymous_variant L3180L 9540C>T STAD-US 17 78321547 78321547 single base substitution G A missense_variant V1211I 3631G>A STAD-US 17 78321547 78321547 single base substitution G A missense_variant V3138I 9412G>A STAD-US 17 78321547 78321547 single base substitution G A missense_variant V3187I 9559G>A STAD-US 17 78321938 78321938 single base substitution T C missense_variant V1341A 4022T>C STAD-US 17 78321938 78321938 single base substitution T C missense_variant V3268A 9803T>C STAD-US 17 78321938 78321938 single base substitution T C missense_variant V3317A 9950T>C STAD-US 17 78323578 78323578 single base substitution T G synonymous_variant T1393T 4179T>G STAD-US 17 78323578 78323578 single base substitution T G synonymous_variant T3320T 9960T>G STAD-US 17 78323578 78323578 single base substitution T G synonymous_variant T3369T 10107T>G STAD-US 17 78323578 78323578 single base substitution T G upstream_gene_variant STAD-US 17 78324165 78324165 single base substitution A T missense_variant I1458F 4372A>T STAD-US 17 78324165 78324165 single base substitution A T missense_variant I3385F 10153A>T STAD-US 17 78324165 78324165 single base substitution A T missense_variant I3434F 10300A>T STAD-US 17 78324165 78324165 single base substitution A T upstream_gene_variant STAD-US 17 78326795 78326795 single base substitution T C synonymous_variant S1526S 4578T>C STAD-US 17 78326795 78326795 single base substitution T C synonymous_variant S3453S 10359T>C STAD-US 17 78326795 78326795 single base substitution T C synonymous_variant S3502S 10506T>C STAD-US 17 78326795 78326795 single base substitution T C upstream_gene_variant STAD-US 17 78327386 78327386 single base substitution G A missense_variant A1573T 4717G>A STAD-US 17 78327386 78327386 single base substitution G A missense_variant A3500T 10498G>A STAD-US 17 78327386 78327386 single base substitution G A missense_variant A3549T 10645G>A STAD-US 17 78327386 78327386 single base substitution G A upstream_gene_variant STAD-US 17 78336981 78336981 single base substitution C A downstream_gene_variant STAD-US 17 78336981 78336981 single base substitution C A exon_variant STAD-US 17 78336981 78336981 single base substitution C A missense_variant P1885Q 5654C>A STAD-US 17 78336981 78336981 single base substitution C A missense_variant P3812Q 11435C>A STAD-US 17 78336981 78336981 single base substitution C A missense_variant P3861Q 11582C>A STAD-US 17 78336981 78336981 single base substitution C A upstream_gene_variant STAD-US 17 78337427 78337427 single base substitution G A downstream_gene_variant STAD-US 17 78337427 78337427 single base substitution G A exon_variant STAD-US 17 78337427 78337427 single base substitution G A missense_variant A1936T 5806G>A STAD-US 17 78337427 78337427 single base substitution G A missense_variant A3863T 11587G>A STAD-US 17 78337427 78337427 single base substitution G A missense_variant A3912T 11734G>A STAD-US 17 78337427 78337427 single base substitution G A upstream_gene_variant STAD-US 17 78337430 78337430 single base substitution A G downstream_gene_variant STAD-US 17 78337430 78337430 single base substitution A G exon_variant STAD-US 17 78337430 78337430 single base substitution A G missense_variant M1937V 5809A>G STAD-US 17 78337430 78337430 single base substitution A G missense_variant M3864V 11590A>G STAD-US 17 78337430 78337430 single base substitution A G missense_variant M3913V 11737A>G STAD-US 17 78337430 78337430 single base substitution A G upstream_gene_variant STAD-US 17 78338261 78338261 single base substitution G A downstream_gene_variant STAD-US 17 78338261 78338261 single base substitution G A exon_variant STAD-US 17 78338261 78338261 single base substitution G A missense_variant A2000T 5998G>A STAD-US 17 78338261 78338261 single base substitution G A missense_variant A3927T 11779G>A STAD-US 17 78338261 78338261 single base substitution G A missense_variant A3976T 11926G>A STAD-US 17 78338303 78338303 single base substitution G A downstream_gene_variant STAD-US 17 78338303 78338303 single base substitution G A exon_variant STAD-US 17 78338303 78338303 single base substitution G A missense_variant V2014I 6040G>A STAD-US 17 78338303 78338303 single base substitution G A missense_variant V3941I 11821G>A STAD-US 17 78338303 78338303 single base substitution G A missense_variant V3990I 11968G>A STAD-US 17 78341576 78341576 single base substitution C T downstream_gene_variant STAD-US 17 78341576 78341576 single base substitution C T exon_variant STAD-US 17 78341576 78341576 single base substitution C T missense_variant T2040M 6119C>T STAD-US 17 78341576 78341576 single base substitution C T missense_variant T3967M 11900C>T STAD-US 17 78341576 78341576 single base substitution C T missense_variant T4016M 12047C>T STAD-US 17 78341576 78341576 single base substitution C T upstream_gene_variant STAD-US 17 78341838 78341838 single base substitution G A downstream_gene_variant STAD-US 17 78341838 78341838 single base substitution G A exon_variant STAD-US 17 78341838 78341838 single base substitution G A missense_variant C2090Y 6269G>A STAD-US 17 78341838 78341838 single base substitution G A missense_variant C4017Y 12050G>A STAD-US 17 78341838 78341838 single base substitution G A missense_variant C4066Y 12197G>A STAD-US 17 78341838 78341838 single base substitution G A upstream_gene_variant STAD-US 17 78343340 78343340 single base substitution G A downstream_gene_variant STAD-US 17 78343340 78343340 single base substitution G A exon_variant STAD-US 17 78343340 78343340 single base substitution G A missense_variant C2138Y 6413G>A STAD-US 17 78343340 78343340 single base substitution G A missense_variant C4065Y 12194G>A STAD-US 17 78343340 78343340 single base substitution G A missense_variant C4114Y 12341G>A STAD-US 17 78343340 78343340 single base substitution G A upstream_gene_variant STAD-US 17 78343450 78343450 single base substitution C T downstream_gene_variant STAD-US 17 78343450 78343450 single base substitution C T exon_variant STAD-US 17 78343450 78343450 single base substitution C T missense_variant R2175C 6523C>T STAD-US 17 78343450 78343450 single base substitution C T missense_variant R4102C 12304C>T STAD-US 17 78343450 78343450 single base substitution C T missense_variant R4151C 12451C>T STAD-US 17 78343450 78343450 single base substitution C T upstream_gene_variant STAD-US 17 78345686 78345686 single base substitution A G exon_variant STAD-US 17 78345686 78345686 single base substitution A G synonymous_variant V2219V 6657A>G STAD-US 17 78345686 78345686 single base substitution A G synonymous_variant V4146V 12438A>G STAD-US 17 78345686 78345686 single base substitution A G synonymous_variant V4195V 12585A>G STAD-US 17 78345686 78345686 single base substitution A G upstream_gene_variant STAD-US 17 78345759 78345759 single base substitution T C exon_variant STAD-US 17 78345759 78345759 single base substitution T C missense_variant Y2244H 6730T>C STAD-US 17 78345759 78345759 single base substitution T C missense_variant Y4171H 12511T>C STAD-US 17 78345759 78345759 single base substitution T C missense_variant Y4220H 12658T>C STAD-US 17 78345759 78345759 single base substitution T C upstream_gene_variant STAD-US 17 78346440 78346440 single base substitution C T exon_variant STAD-US 17 78346440 78346440 single base substitution C T synonymous_variant N2292N 6876C>T STAD-US 17 78346440 78346440 single base substitution C T synonymous_variant N4219N 12657C>T STAD-US 17 78346440 78346440 single base substitution C T synonymous_variant N4268N 12804C>T STAD-US 17 78346440 78346440 single base substitution C T upstream_gene_variant STAD-US 17 78346449 78346449 single base substitution G A exon_variant STAD-US 17 78346449 78346449 single base substitution G A synonymous_variant S2295S 6885G>A STAD-US 17 78346449 78346449 single base substitution G A synonymous_variant S4222S 12666G>A STAD-US 17 78346449 78346449 single base substitution G A synonymous_variant S4271S 12813G>A STAD-US 17 78346449 78346449 single base substitution G A upstream_gene_variant STAD-US 17 78346774 78346774 single base substitution G C splice_acceptor_variant STAD-US 17 78346774 78346774 single base substitution G C upstream_gene_variant STAD-US 17 78346893 78346893 single base substitution G C exon_variant STAD-US 17 78346893 78346893 single base substitution G C missense_variant E2363D 7089G>C STAD-US 17 78346893 78346893 single base substitution G C missense_variant E4290D 12870G>C STAD-US 17 78346893 78346893 single base substitution G C missense_variant E4339D 13017G>C STAD-US 17 78346893 78346893 single base substitution G C missense_variant E8D 24G>C STAD-US 17 78346893 78346893 single base substitution G C upstream_gene_variant STAD-US 17 78346918 78346918 single base substitution G A exon_variant STAD-US 17 78346918 78346918 single base substitution G A missense_variant G17S 49G>A STAD-US 17 78346918 78346918 single base substitution G A missense_variant G2372S 7114G>A STAD-US 17 78346918 78346918 single base substitution G A missense_variant G4299S 12895G>A STAD-US 17 78346918 78346918 single base substitution G A missense_variant G4348S 13042G>A STAD-US 17 78346918 78346918 single base substitution G A upstream_gene_variant STAD-US 17 78348265 78348265 single base substitution G A exon_variant STAD-US 17 78348265 78348265 single base substitution G A missense_variant R2390Q 7169G>A STAD-US 17 78348265 78348265 single base substitution G A missense_variant R35Q 104G>A STAD-US 17 78348265 78348265 single base substitution G A missense_variant R4317Q 12950G>A STAD-US 17 78348265 78348265 single base substitution G A missense_variant R4366Q 13097G>A STAD-US 17 78348265 78348265 single base substitution G A upstream_gene_variant STAD-US 17 78350178 78350178 single base substitution G A downstream_gene_variant STAD-US 17 78350178 78350178 single base substitution G A exon_variant STAD-US 17 78350178 78350178 single base substitution G A synonymous_variant S2494S 7482G>A STAD-US 17 78350178 78350178 single base substitution G A synonymous_variant S4421S 13263G>A STAD-US 17 78350178 78350178 single base substitution G A synonymous_variant S4470S 13410G>A STAD-US 17 78350178 78350178 single base substitution G A upstream_gene_variant STAD-US 17 78351588 78351588 single base substitution G A downstream_gene_variant STAD-US 17 78351588 78351588 single base substitution G A exon_variant STAD-US 17 78351588 78351588 single base substitution G A missense_variant V2586M 7756G>A STAD-US 17 78351588 78351588 single base substitution G A missense_variant V4513M 13537G>A STAD-US 17 78351588 78351588 single base substitution G A missense_variant V4562M 13684G>A STAD-US 17 78351588 78351588 single base substitution G A upstream_gene_variant STAD-US 17 78354648 78354648 single base substitution C T downstream_gene_variant STAD-US 17 78354648 78354648 single base substitution C T exon_variant STAD-US 17 78354648 78354648 single base substitution C T missense_variant T2626M 7877C>T STAD-US 17 78354648 78354648 single base substitution C T missense_variant T4553M 13658C>T STAD-US 17 78354648 78354648 single base substitution C T missense_variant T4602M 13805C>T STAD-US 17 78354648 78354648 single base substitution C T upstream_gene_variant STAD-US 17 78354771 78354771 single base substitution C T downstream_gene_variant STAD-US 17 78354771 78354771 single base substitution C T exon_variant STAD-US 17 78354771 78354771 single base substitution C T missense_variant A2667V 8000C>T STAD-US 17 78354771 78354771 single base substitution C T missense_variant A4594V 13781C>T STAD-US 17 78354771 78354771 single base substitution C T missense_variant A4643V 13928C>T STAD-US 17 78354771 78354771 single base substitution C T upstream_gene_variant STAD-US 17 78356807 78356807 single base substitution A G downstream_gene_variant STAD-US 17 78356807 78356807 single base substitution A G exon_variant STAD-US 17 78356807 78356807 single base substitution A G synonymous_variant S2742S 8226A>G STAD-US 17 78356807 78356807 single base substitution A G synonymous_variant S4669S 14007A>G STAD-US 17 78356807 78356807 single base substitution A G synonymous_variant S4718S 14154A>G STAD-US 17 78356807 78356807 single base substitution A G upstream_gene_variant STAD-US 17 78357495 78357495 single base substitution C T downstream_gene_variant STAD-US 17 78357495 78357495 single base substitution C T exon_variant STAD-US 17 78357495 78357495 single base substitution C T missense_variant P2770S 8308C>T STAD-US 17 78357495 78357495 single base substitution C T missense_variant P4697S 14089C>T STAD-US 17 78357495 78357495 single base substitution C T missense_variant P4746S 14236C>T STAD-US 17 78357495 78357495 single base substitution C T upstream_gene_variant STAD-US 17 78357574 78357574 single base substitution T C downstream_gene_variant STAD-US 17 78357574 78357574 single base substitution T C exon_variant STAD-US 17 78357574 78357574 single base substitution T C missense_variant V2796A 8387T>C STAD-US 17 78357574 78357574 single base substitution T C missense_variant V4723A 14168T>C STAD-US 17 78357574 78357574 single base substitution T C missense_variant V4772A 14315T>C STAD-US 17 78357574 78357574 single base substitution T C upstream_gene_variant STAD-US 17 78358856 78358856 single base substitution G T downstream_gene_variant STAD-US 17 78358856 78358856 single base substitution G T exon_variant STAD-US 17 78358856 78358856 single base substitution G T synonymous_variant L2853L 8559G>T STAD-US 17 78358856 78358856 single base substitution G T synonymous_variant L4780L 14340G>T STAD-US 17 78358856 78358856 single base substitution G T synonymous_variant L4829L 14487G>T STAD-US 17 78358856 78358856 single base substitution G T upstream_gene_variant STAD-US 17 78360232 78360232 single base substitution T C downstream_gene_variant STAD-US 17 78360232 78360232 single base substitution T C splice_donor_variant STAD-US 17 78360232 78360232 single base substitution T C upstream_gene_variant STAD-US 17 78360533 78360533 single base substitution A C downstream_gene_variant STAD-US 17 78360533 78360533 single base substitution A C exon_variant STAD-US 17 78360533 78360533 single base substitution A C missense_variant S2995R 8983A>C STAD-US 17 78360533 78360533 single base substitution A C missense_variant S4922R 14764A>C STAD-US 17 78360533 78360533 single base substitution A C missense_variant S4971R 14911A>C STAD-US 17 78360533 78360533 single base substitution A C upstream_gene_variant STAD-US 17 78360611 78360611 single base substitution G A downstream_gene_variant STAD-US 17 78360611 78360611 single base substitution G A exon_variant STAD-US 17 78360611 78360611 single base substitution G A missense_variant V3021M 9061G>A STAD-US 17 78360611 78360611 single base substitution G A missense_variant V4948M 14842G>A STAD-US 17 78360611 78360611 single base substitution G A missense_variant V4997M 14989G>A STAD-US 17 78360611 78360611 single base substitution G A upstream_gene_variant STAD-US 17 78360622 78360622 single base substitution C T downstream_gene_variant STAD-US 17 78360622 78360622 single base substitution C T exon_variant STAD-US 17 78360622 78360622 single base substitution C T synonymous_variant F3024F 9072C>T STAD-US 17 78360622 78360622 single base substitution C T synonymous_variant F4951F 14853C>T STAD-US 17 78360622 78360622 single base substitution C T synonymous_variant F5000F 15000C>T STAD-US 17 78360622 78360622 single base substitution C T upstream_gene_variant STAD-US 17 78363029 78363029 single base substitution C T downstream_gene_variant STAD-US 17 78363029 78363029 single base substitution C T exon_variant STAD-US 17 78363029 78363029 single base substitution C T synonymous_variant S3092S 9276C>T STAD-US 17 78363029 78363029 single base substitution C T synonymous_variant S5019S 15057C>T STAD-US 17 78363029 78363029 single base substitution C T synonymous_variant S5068S 15204C>T STAD-US 17 78363150 78363150 single base substitution A G downstream_gene_variant STAD-US 17 78363150 78363150 single base substitution A G exon_variant STAD-US 17 78363150 78363150 single base substitution A G missense_variant T3133A 9397A>G STAD-US 17 78363150 78363150 single base substitution A G missense_variant T5060A 15178A>G STAD-US 17 78363150 78363150 single base substitution A G missense_variant T5109A 15325A>G STAD-US 17 78363631 78363631 single base substitution T C downstream_gene_variant STAD-US 17 78363631 78363631 single base substitution T C exon_variant STAD-US 17 78363631 78363631 single base substitution T C synonymous_variant L3140L 9418T>C STAD-US 17 78363631 78363631 single base substitution T C synonymous_variant L5067L 15199T>C STAD-US 17 78363631 78363631 single base substitution T C synonymous_variant L5116L 15346T>C STAD-US 17 78363971 78363971 single base substitution G A downstream_gene_variant STAD-US 17 78363971 78363971 single base substitution G A exon_variant STAD-US 17 78363971 78363971 single base substitution G A missense_variant E3222K 9664G>A STAD-US 17 78363971 78363971 single base substitution G A missense_variant E5149K 15445G>A STAD-US 17 78363971 78363971 single base substitution G A missense_variant E5198K 15592G>A THCA-SA 17 78305984 78305984 deletion of <=200bp C - exon_variant THCA-SA 17 78305984 78305984 deletion of <=200bp C - frameshift_variant I1232 THCA-SA 17 78305984 78305984 deletion of <=200bp C - frameshift_variant I1281 THCA-SA 17 78318601 78318601 single base substitution C G missense_variant L2156V 6466C>G THCA-SA 17 78318601 78318601 single base substitution C G missense_variant L2205V 6613C>G THCA-SA 17 78318601 78318601 single base substitution C G missense_variant L229V 685C>G THCA-SA 17 78326814 78326814 deletion of <=200bp C - frameshift_variant H1533 THCA-SA 17 78326814 78326814 deletion of <=200bp C - frameshift_variant H3460 THCA-SA 17 78326814 78326814 deletion of <=200bp C - frameshift_variant H3509 THCA-SA 17 78326814 78326814 deletion of <=200bp C - upstream_gene_variant THCA-SA 17 78349570 78349570 deletion of <=200bp C - downstream_gene_variant THCA-SA 17 78349570 78349570 deletion of <=200bp C - exon_variant THCA-SA 17 78349570 78349570 deletion of <=200bp C - frameshift_variant T2435 THCA-SA 17 78349570 78349570 deletion of <=200bp C - frameshift_variant T4362 THCA-SA 17 78349570 78349570 deletion of <=200bp C - frameshift_variant T4411 THCA-SA 17 78349570 78349570 deletion of <=200bp C - upstream_gene_variant THCA-SA 17 78355428 78355428 single base substitution T G downstream_gene_variant THCA-SA 17 78355428 78355428 single base substitution T G exon_variant THCA-SA 17 78355428 78355428 single base substitution T G missense_variant L2700V 8098T>G THCA-SA 17 78355428 78355428 single base substitution T G missense_variant L4627V 13879T>G THCA-SA 17 78355428 78355428 single base substitution T G missense_variant L4676V 14026T>G THCA-SA 17 78355428 78355428 single base substitution T G upstream_gene_variant THCA-US 17 78343413 78343413 single base substitution T C downstream_gene_variant THCA-US 17 78343413 78343413 single base substitution T C exon_variant THCA-US 17 78343413 78343413 single base substitution T C synonymous_variant I2162I 6486T>C THCA-US 17 78343413 78343413 single base substitution T C synonymous_variant I4089I 12267T>C THCA-US 17 78343413 78343413 single base substitution T C synonymous_variant I4138I 12414T>C THCA-US 17 78343413 78343413 single base substitution T C upstream_gene_variant UCEC-US 17 78247195 78247195 single base substitution G A missense_variant V85I 253G>A UCEC-US 17 78262463 78262463 single base substitution C T exon_variant UCEC-US 17 78262463 78262463 single base substitution C T missense_variant A281V 842C>T UCEC-US 17 78262463 78262463 single base substitution C T missense_variant A330V 989C>T UCEC-US 17 78262463 78262463 single base substitution C T upstream_gene_variant UCEC-US 17 78263500 78263500 single base substitution G T exon_variant UCEC-US 17 78263500 78263500 single base substitution G T stop_gained E326* 976G>T UCEC-US 17 78263500 78263500 single base substitution G T stop_gained E375* 1123G>T UCEC-US 17 78263500 78263500 single base substitution G T upstream_gene_variant UCEC-US 17 78265581 78265581 single base substitution G A exon_variant UCEC-US 17 78265581 78265581 single base substitution G A missense_variant V476I 1426G>A UCEC-US 17 78265581 78265581 single base substitution G A missense_variant V525I 1573G>A UCEC-US 17 78265581 78265581 single base substitution G A upstream_gene_variant UCEC-US 17 78265610 78265610 single base substitution A G exon_variant UCEC-US 17 78265610 78265610 single base substitution A G synonymous_variant S485S 1455A>G UCEC-US 17 78265610 78265610 single base substitution A G synonymous_variant S534S 1602A>G UCEC-US 17 78265610 78265610 single base substitution A G upstream_gene_variant UCEC-US 17 78268742 78268742 single base substitution G A downstream_gene_variant UCEC-US 17 78268742 78268742 single base substitution G A exon_variant UCEC-US 17 78268742 78268742 single base substitution G A synonymous_variant Q565Q 1695G>A UCEC-US 17 78268742 78268742 single base substitution G A synonymous_variant Q614Q 1842G>A UCEC-US 17 78268742 78268742 single base substitution G A upstream_gene_variant UCEC-US 17 78269422 78269422 single base substitution G A downstream_gene_variant UCEC-US 17 78269422 78269422 single base substitution G A exon_variant UCEC-US 17 78269422 78269422 single base substitution G A synonymous_variant T607T 1821G>A UCEC-US 17 78269422 78269422 single base substitution G A synonymous_variant T656T 1968G>A UCEC-US 17 78269422 78269422 single base substitution G A upstream_gene_variant UCEC-US 17 78269614 78269614 single base substitution G A downstream_gene_variant UCEC-US 17 78269614 78269614 single base substitution G A splice_donor_variant UCEC-US 17 78282928 78282928 single base substitution C T exon_variant UCEC-US 17 78282928 78282928 single base substitution C T missense_variant S871F 2612C>T UCEC-US 17 78282928 78282928 single base substitution C T missense_variant S920F 2759C>T UCEC-US 17 78282935 78282935 single base substitution G A exon_variant UCEC-US 17 78282935 78282935 single base substitution G A synonymous_variant E873E 2619G>A UCEC-US 17 78282935 78282935 single base substitution G A synonymous_variant E922E 2766G>A UCEC-US 17 78291023 78291023 single base substitution G A exon_variant UCEC-US 17 78291023 78291023 single base substitution G A synonymous_variant A949A 2847G>A UCEC-US 17 78291023 78291023 single base substitution G A synonymous_variant A998A 2994G>A UCEC-US 17 78298873 78298873 single base substitution G A downstream_gene_variant UCEC-US 17 78298873 78298873 single base substitution G A exon_variant UCEC-US 17 78298873 78298873 single base substitution G A missense_variant R1023Q 3068G>A UCEC-US 17 78298873 78298873 single base substitution G A missense_variant R1072Q 3215G>A UCEC-US 17 78298909 78298909 single base substitution A C downstream_gene_variant UCEC-US 17 78298909 78298909 single base substitution A C exon_variant UCEC-US 17 78298909 78298909 single base substitution A C missense_variant K1035T 3104A>C UCEC-US 17 78298909 78298909 single base substitution A C missense_variant K1084T 3251A>C UCEC-US 17 78301767 78301767 single base substitution G C exon_variant UCEC-US 17 78301767 78301767 single base substitution G C missense_variant Q1115H 3345G>C UCEC-US 17 78301767 78301767 single base substitution G C missense_variant Q1164H 3492G>C UCEC-US 17 78302195 78302195 single base substitution G A exon_variant UCEC-US 17 78302195 78302195 single base substitution G A synonymous_variant E1145E 3435G>A UCEC-US 17 78302195 78302195 single base substitution G A synonymous_variant E1194E 3582G>A UCEC-US 17 78305865 78305865 single base substitution G T exon_variant UCEC-US 17 78305865 78305865 single base substitution G T missense_variant D1193Y 3577G>T UCEC-US 17 78305865 78305865 single base substitution G T missense_variant D1242Y 3724G>T UCEC-US 17 78305881 78305881 single base substitution G T exon_variant UCEC-US 17 78305881 78305881 single base substitution G T missense_variant R1198I 3593G>T UCEC-US 17 78305881 78305881 single base substitution G T missense_variant R1247I 3740G>T UCEC-US 17 78306008 78306008 single base substitution C T exon_variant UCEC-US 17 78306008 78306008 single base substitution C T synonymous_variant A1240A 3720C>T UCEC-US 17 78306008 78306008 single base substitution C T synonymous_variant A1289A 3867C>T UCEC-US 17 78307916 78307916 single base substitution C A exon_variant UCEC-US 17 78307916 78307916 single base substitution C A missense_variant F1385L 4155C>A UCEC-US 17 78307916 78307916 single base substitution C A missense_variant F1434L 4302C>A UCEC-US 17 78307916 78307916 single base substitution C A upstream_gene_variant UCEC-US 17 78307920 78307920 single base substitution G A exon_variant UCEC-US 17 78307920 78307920 single base substitution G A missense_variant D1387N 4159G>A UCEC-US 17 78307920 78307920 single base substitution G A missense_variant D1436N 4306G>A UCEC-US 17 78307920 78307920 single base substitution G A upstream_gene_variant UCEC-US 17 78307927 78307927 single base substitution G A exon_variant UCEC-US 17 78307927 78307927 single base substitution G A missense_variant R1389H 4166G>A UCEC-US 17 78307927 78307927 single base substitution G A missense_variant R1438H 4313G>A UCEC-US 17 78307927 78307927 single base substitution G A upstream_gene_variant UCEC-US 17 78307942 78307942 single base substitution A G exon_variant UCEC-US 17 78307942 78307942 single base substitution A G missense_variant D1394G 4181A>G UCEC-US 17 78307942 78307942 single base substitution A G missense_variant D1443G 4328A>G UCEC-US 17 78307942 78307942 single base substitution A G upstream_gene_variant UCEC-US 17 78307976 78307976 single base substitution G T exon_variant UCEC-US 17 78307976 78307976 single base substitution G T missense_variant K1405N 4215G>T UCEC-US 17 78307976 78307976 single base substitution G T missense_variant K1454N 4362G>T UCEC-US 17 78307976 78307976 single base substitution G T upstream_gene_variant UCEC-US 17 78308012 78308012 single base substitution G A exon_variant UCEC-US 17 78308012 78308012 single base substitution G A synonymous_variant G1417G 4251G>A UCEC-US 17 78308012 78308012 single base substitution G A synonymous_variant G1466G 4398G>A UCEC-US 17 78308012 78308012 single base substitution G A upstream_gene_variant UCEC-US 17 78310129 78310129 single base substitution A G exon_variant UCEC-US 17 78310129 78310129 single base substitution A G missense_variant K1493R 4478A>G UCEC-US 17 78310129 78310129 single base substitution A G missense_variant K1542R 4625A>G UCEC-US 17 78310129 78310129 single base substitution A G upstream_gene_variant UCEC-US 17 78310294 78310294 single base substitution G A exon_variant UCEC-US 17 78310294 78310294 single base substitution G A intron_variant UCEC-US 17 78310294 78310294 single base substitution G A missense_variant R1548H 4643G>A UCEC-US 17 78310294 78310294 single base substitution G A upstream_gene_variant UCEC-US 17 78311744 78311744 single base substitution C T downstream_gene_variant UCEC-US 17 78311744 78311744 single base substitution C T exon_variant UCEC-US 17 78311744 78311744 single base substitution C T synonymous_variant L1594L 4780C>T UCEC-US 17 78311744 78311744 single base substitution C T synonymous_variant L1643L 4927C>T UCEC-US 17 78311744 78311744 single base substitution C T upstream_gene_variant UCEC-US 17 78313383 78313383 single base substitution G T downstream_gene_variant UCEC-US 17 78313383 78313383 single base substitution G T missense_variant R1739M 5216G>T UCEC-US 17 78313383 78313383 single base substitution G T missense_variant R1788M 5363G>T UCEC-US 17 78313383 78313383 single base substitution G T upstream_gene_variant UCEC-US 17 78313718 78313718 single base substitution A C downstream_gene_variant UCEC-US 17 78313718 78313718 single base substitution A C missense_variant T1851P 5551A>C UCEC-US 17 78313718 78313718 single base substitution A C missense_variant T1900P 5698A>C UCEC-US 17 78313718 78313718 single base substitution A C upstream_gene_variant UCEC-US 17 78314015 78314015 single base substitution G A downstream_gene_variant UCEC-US 17 78314015 78314015 single base substitution G A missense_variant V1950I 5848G>A UCEC-US 17 78314015 78314015 single base substitution G A missense_variant V1999I 5995G>A UCEC-US 17 78314015 78314015 single base substitution G A missense_variant V23I 67G>A UCEC-US 17 78316973 78316973 single base substitution A G downstream_gene_variant UCEC-US 17 78316973 78316973 single base substitution A G missense_variant M2011V 6031A>G UCEC-US 17 78316973 78316973 single base substitution A G missense_variant M2060V 6178A>G UCEC-US 17 78316973 78316973 single base substitution A G missense_variant M84V 250A>G UCEC-US 17 78317012 78317012 single base substitution C T downstream_gene_variant UCEC-US 17 78317012 78317012 single base substitution C T stop_gained R2024* 6070C>T UCEC-US 17 78317012 78317012 single base substitution C T stop_gained R2073* 6217C>T UCEC-US 17 78317012 78317012 single base substitution C T stop_gained R97* 289C>T UCEC-US 17 78317013 78317013 single base substitution G A downstream_gene_variant UCEC-US 17 78317013 78317013 single base substitution G A missense_variant R2024Q 6071G>A UCEC-US 17 78317013 78317013 single base substitution G A missense_variant R2073Q 6218G>A UCEC-US 17 78317013 78317013 single base substitution G A missense_variant R97Q 290G>A UCEC-US 17 78317117 78317117 single base substitution A G downstream_gene_variant UCEC-US 17 78317117 78317117 single base substitution A G missense_variant T132A 394A>G UCEC-US 17 78317117 78317117 single base substitution A G missense_variant T2059A 6175A>G UCEC-US 17 78317117 78317117 single base substitution A G missense_variant T2108A 6322A>G UCEC-US 17 78318619 78318619 single base substitution G A missense_variant E2162K 6484G>A UCEC-US 17 78318619 78318619 single base substitution G A missense_variant E2211K 6631G>A UCEC-US 17 78318619 78318619 single base substitution G A missense_variant E235K 703G>A UCEC-US 17 78318818 78318818 single base substitution A T missense_variant D2228V 6683A>T UCEC-US 17 78318818 78318818 single base substitution A T missense_variant D2277V 6830A>T UCEC-US 17 78318818 78318818 single base substitution A T missense_variant D301V 902A>T UCEC-US 17 78318916 78318916 single base substitution G T missense_variant D2261Y 6781G>T UCEC-US 17 78318916 78318916 single base substitution G T missense_variant D2310Y 6928G>T UCEC-US 17 78318916 78318916 single base substitution G T missense_variant D334Y 1000G>T UCEC-US 17 78319965 78319965 single base substitution C T synonymous_variant N2610N 7830C>T UCEC-US 17 78319965 78319965 single base substitution C T synonymous_variant N2659N 7977C>T UCEC-US 17 78319965 78319965 single base substitution C T synonymous_variant N683N 2049C>T UCEC-US 17 78319974 78319974 single base substitution C T synonymous_variant R2613R 7839C>T UCEC-US 17 78319974 78319974 single base substitution C T synonymous_variant R2662R 7986C>T UCEC-US 17 78319974 78319974 single base substitution C T synonymous_variant R686R 2058C>T UCEC-US 17 78320271 78320271 single base substitution G A synonymous_variant P2712P 8136G>A UCEC-US 17 78320271 78320271 single base substitution G A synonymous_variant P2761P 8283G>A UCEC-US 17 78320271 78320271 single base substitution G A synonymous_variant P785P 2355G>A UCEC-US 17 78320284 78320284 single base substitution G A missense_variant D2717N 8149G>A UCEC-US 17 78320284 78320284 single base substitution G A missense_variant D2766N 8296G>A UCEC-US 17 78320284 78320284 single base substitution G A missense_variant D790N 2368G>A UCEC-US 17 78320322 78320322 single base substitution G T missense_variant Q2729H 8187G>T UCEC-US 17 78320322 78320322 single base substitution G T missense_variant Q2778H 8334G>T UCEC-US 17 78320322 78320322 single base substitution G T missense_variant Q802H 2406G>T UCEC-US 17 78320349 78320349 single base substitution G T synonymous_variant L2738L 8214G>T UCEC-US 17 78320349 78320349 single base substitution G T synonymous_variant L2787L 8361G>T UCEC-US 17 78320349 78320349 single base substitution G T synonymous_variant L811L 2433G>T UCEC-US 17 78320403 78320403 single base substitution C T synonymous_variant V2756V 8268C>T UCEC-US 17 78320403 78320403 single base substitution C T synonymous_variant V2805V 8415C>T UCEC-US 17 78320403 78320403 single base substitution C T synonymous_variant V829V 2487C>T UCEC-US 17 78320524 78320524 single base substitution C T missense_variant R2797C 8389C>T UCEC-US 17 78320524 78320524 single base substitution C T missense_variant R2846C 8536C>T UCEC-US 17 78320524 78320524 single base substitution C T missense_variant R870C 2608C>T UCEC-US 17 78320688 78320688 single base substitution C T synonymous_variant D2851D 8553C>T UCEC-US 17 78320688 78320688 single base substitution C T synonymous_variant D2900D 8700C>T UCEC-US 17 78320688 78320688 single base substitution C T synonymous_variant D924D 2772C>T UCEC-US 17 78321264 78321264 single base substitution C T synonymous_variant L1116L 3348C>T UCEC-US 17 78321264 78321264 single base substitution C T synonymous_variant L3043L 9129C>T UCEC-US 17 78321264 78321264 single base substitution C T synonymous_variant L3092L 9276C>T UCEC-US 17 78321294 78321294 single base substitution G T missense_variant Q1126H 3378G>T UCEC-US 17 78321294 78321294 single base substitution G T missense_variant Q3053H 9159G>T UCEC-US 17 78321294 78321294 single base substitution G T missense_variant Q3102H 9306G>T UCEC-US 17 78321703 78321703 single base substitution G A missense_variant E1263K 3787G>A UCEC-US 17 78321703 78321703 single base substitution G A missense_variant E3190K 9568G>A UCEC-US 17 78321703 78321703 single base substitution G A missense_variant E3239K 9715G>A UCEC-US 17 78322040 78322040 single base substitution C T missense_variant A1375V 4124C>T UCEC-US 17 78322040 78322040 single base substitution C T missense_variant A3302V 9905C>T UCEC-US 17 78322040 78322040 single base substitution C T missense_variant A3351V 10052C>T UCEC-US 17 78326559 78326559 single base substitution T C intron_variant UCEC-US 17 78326559 78326559 single base substitution T C upstream_gene_variant UCEC-US 17 78326947 78326947 single base substitution G A intron_variant UCEC-US 17 78326947 78326947 single base substitution G A upstream_gene_variant UCEC-US 17 78327411 78327411 single base substitution A C missense_variant E1581A 4742A>C UCEC-US 17 78327411 78327411 single base substitution A C missense_variant E3508A 10523A>C UCEC-US 17 78327411 78327411 single base substitution A C missense_variant E3557A 10670A>C UCEC-US 17 78327411 78327411 single base substitution A C upstream_gene_variant UCEC-US 17 78327454 78327454 single base substitution C T synonymous_variant L1595L 4785C>T UCEC-US 17 78327454 78327454 single base substitution C T synonymous_variant L3522L 10566C>T UCEC-US 17 78327454 78327454 single base substitution C T synonymous_variant L3571L 10713C>T UCEC-US 17 78327454 78327454 single base substitution C T upstream_gene_variant UCEC-US 17 78327612 78327612 single base substitution G T intron_variant UCEC-US 17 78327612 78327612 single base substitution G T upstream_gene_variant UCEC-US 17 78332206 78332206 single base substitution G A exon_variant UCEC-US 17 78332206 78332206 single base substitution G A missense_variant A1734T 5200G>A UCEC-US 17 78332206 78332206 single base substitution G A missense_variant A3661T 10981G>A UCEC-US 17 78332206 78332206 single base substitution G A missense_variant A3710T 11128G>A UCEC-US 17 78332206 78332206 single base substitution G A upstream_gene_variant UCEC-US 17 78332269 78332269 single base substitution A G exon_variant UCEC-US 17 78332269 78332269 single base substitution A G missense_variant N1755D 5263A>G UCEC-US 17 78332269 78332269 single base substitution A G missense_variant N3682D 11044A>G UCEC-US 17 78332269 78332269 single base substitution A G missense_variant N3731D 11191A>G UCEC-US 17 78332269 78332269 single base substitution A G upstream_gene_variant UCEC-US 17 78335565 78335565 single base substitution G A downstream_gene_variant UCEC-US 17 78335565 78335565 single base substitution G A exon_variant UCEC-US 17 78335565 78335565 single base substitution G A synonymous_variant Q1817Q 5451G>A UCEC-US 17 78335565 78335565 single base substitution G A synonymous_variant Q3744Q 11232G>A UCEC-US 17 78335565 78335565 single base substitution G A synonymous_variant Q3793Q 11379G>A UCEC-US 17 78335565 78335565 single base substitution G A upstream_gene_variant UCEC-US 17 78337501 78337501 single base substitution G T downstream_gene_variant UCEC-US 17 78337501 78337501 single base substitution G T exon_variant UCEC-US 17 78337501 78337501 single base substitution G T missense_variant K1960N 5880G>T UCEC-US 17 78337501 78337501 single base substitution G T missense_variant K3887N 11661G>T UCEC-US 17 78337501 78337501 single base substitution G T missense_variant K3936N 11808G>T UCEC-US 17 78341844 78341844 single base substitution G A downstream_gene_variant UCEC-US 17 78341844 78341844 single base substitution G A exon_variant UCEC-US 17 78341844 78341844 single base substitution G A missense_variant R2092H 6275G>A UCEC-US 17 78341844 78341844 single base substitution G A missense_variant R4019H 12056G>A UCEC-US 17 78341844 78341844 single base substitution G A missense_variant R4068H 12203G>A UCEC-US 17 78341844 78341844 single base substitution G A upstream_gene_variant UCEC-US 17 78343365 78343365 single base substitution G A downstream_gene_variant UCEC-US 17 78343365 78343365 single base substitution G A exon_variant UCEC-US 17 78343365 78343365 single base substitution G A synonymous_variant V2146V 6438G>A UCEC-US 17 78343365 78343365 single base substitution G A synonymous_variant V4073V 12219G>A UCEC-US 17 78343365 78343365 single base substitution G A synonymous_variant V4122V 12366G>A UCEC-US 17 78343365 78343365 single base substitution G A upstream_gene_variant UCEC-US 17 78343456 78343456 single base substitution A C downstream_gene_variant UCEC-US 17 78343456 78343456 single base substitution A C exon_variant UCEC-US 17 78343456 78343456 single base substitution A C synonymous_variant R2177R 6529A>C UCEC-US 17 78343456 78343456 single base substitution A C synonymous_variant R4104R 12310A>C UCEC-US 17 78343456 78343456 single base substitution A C synonymous_variant R4153R 12457A>C UCEC-US 17 78343456 78343456 single base substitution A C upstream_gene_variant UCEC-US 17 78345690 78345690 single base substitution G T exon_variant UCEC-US 17 78345690 78345690 single base substitution G T missense_variant D2221Y 6661G>T UCEC-US 17 78345690 78345690 single base substitution G T missense_variant D4148Y 12442G>T UCEC-US 17 78345690 78345690 single base substitution G T missense_variant D4197Y 12589G>T UCEC-US 17 78345690 78345690 single base substitution G T upstream_gene_variant UCEC-US 17 78346926 78346926 single base substitution G A exon_variant UCEC-US 17 78346926 78346926 single base substitution G A synonymous_variant P19P 57G>A UCEC-US 17 78346926 78346926 single base substitution G A synonymous_variant P2374P 7122G>A UCEC-US 17 78346926 78346926 single base substitution G A synonymous_variant P4301P 12903G>A UCEC-US 17 78346926 78346926 single base substitution G A synonymous_variant P4350P 13050G>A UCEC-US 17 78346926 78346926 single base substitution G A upstream_gene_variant UCEC-US 17 78350210 78350210 single base substitution C T downstream_gene_variant UCEC-US 17 78350210 78350210 single base substitution C T exon_variant UCEC-US 17 78350210 78350210 single base substitution C T missense_variant A2505V 7514C>T UCEC-US 17 78350210 78350210 single base substitution C T missense_variant A4432V 13295C>T UCEC-US 17 78350210 78350210 single base substitution C T missense_variant A4481V 13442C>T UCEC-US 17 78350210 78350210 single base substitution C T upstream_gene_variant UCEC-US 17 78350686 78350686 single base substitution C T downstream_gene_variant UCEC-US 17 78350686 78350686 single base substitution C T exon_variant UCEC-US 17 78350686 78350686 single base substitution C T missense_variant A2551V 7652C>T UCEC-US 17 78350686 78350686 single base substitution C T missense_variant A4478V 13433C>T UCEC-US 17 78350686 78350686 single base substitution C T missense_variant A4527V 13580C>T UCEC-US 17 78350686 78350686 single base substitution C T upstream_gene_variant UCEC-US 17 78355365 78355365 single base substitution A G downstream_gene_variant UCEC-US 17 78355365 78355365 single base substitution A G exon_variant UCEC-US 17 78355365 78355365 single base substitution A G missense_variant K2679E 8035A>G UCEC-US 17 78355365 78355365 single base substitution A G missense_variant K4606E 13816A>G UCEC-US 17 78355365 78355365 single base substitution A G missense_variant K4655E 13963A>G UCEC-US 17 78355365 78355365 single base substitution A G upstream_gene_variant UCEC-US 17 78355489 78355489 single base substitution G A downstream_gene_variant UCEC-US 17 78355489 78355489 single base substitution G A exon_variant UCEC-US 17 78355489 78355489 single base substitution G A missense_variant R2720H 8159G>A UCEC-US 17 78355489 78355489 single base substitution G A missense_variant R4647H 13940G>A UCEC-US 17 78355489 78355489 single base substitution G A missense_variant R4696H 14087G>A UCEC-US 17 78355489 78355489 single base substitution G A upstream_gene_variant UCEC-US 17 78356844 78356844 single base substitution G A downstream_gene_variant UCEC-US 17 78356844 78356844 single base substitution G A exon_variant UCEC-US 17 78356844 78356844 single base substitution G A missense_variant A2755T 8263G>A UCEC-US 17 78356844 78356844 single base substitution G A missense_variant A4682T 14044G>A UCEC-US 17 78356844 78356844 single base substitution G A missense_variant A4731T 14191G>A UCEC-US 17 78356844 78356844 single base substitution G A upstream_gene_variant UCEC-US 17 78357549 78357549 single base substitution G A downstream_gene_variant UCEC-US 17 78357549 78357549 single base substitution G A exon_variant UCEC-US 17 78357549 78357549 single base substitution G A missense_variant A2788T 8362G>A UCEC-US 17 78357549 78357549 single base substitution G A missense_variant A4715T 14143G>A UCEC-US 17 78357549 78357549 single base substitution G A missense_variant A4764T 14290G>A UCEC-US 17 78357549 78357549 single base substitution G A upstream_gene_variant UCEC-US 17 78357598 78357598 single base substitution G A downstream_gene_variant UCEC-US 17 78357598 78357598 single base substitution G A exon_variant UCEC-US 17 78357598 78357598 single base substitution G A missense_variant R2804Q 8411G>A UCEC-US 17 78357598 78357598 single base substitution G A missense_variant R4731Q 14192G>A UCEC-US 17 78357598 78357598 single base substitution G A missense_variant R4780Q 14339G>A UCEC-US 17 78357598 78357598 single base substitution G A upstream_gene_variant UCEC-US 17 78358877 78358877 single base substitution T G downstream_gene_variant UCEC-US 17 78358877 78358877 single base substitution T G exon_variant UCEC-US 17 78358877 78358877 single base substitution T G missense_variant I2860M 8580T>G UCEC-US 17 78358877 78358877 single base substitution T G missense_variant I4787M 14361T>G UCEC-US 17 78358877 78358877 single base substitution T G missense_variant I4836M 14508T>G UCEC-US 17 78358877 78358877 single base substitution T G upstream_gene_variant UCEC-US 17 78359417 78359417 single base substitution G A downstream_gene_variant UCEC-US 17 78359417 78359417 single base substitution G A exon_variant UCEC-US 17 78359417 78359417 single base substitution G A synonymous_variant T2918T 8754G>A UCEC-US 17 78359417 78359417 single base substitution G A synonymous_variant T4845T 14535G>A UCEC-US 17 78359417 78359417 single base substitution G A synonymous_variant T4894T 14682G>A UCEC-US 17 78359417 78359417 single base substitution G A upstream_gene_variant UCEC-US 17 78360128 78360128 single base substitution G A downstream_gene_variant UCEC-US 17 78360128 78360128 single base substitution G A exon_variant UCEC-US 17 78360128 78360128 single base substitution G A missense_variant R2946Q 8837G>A UCEC-US 17 78360128 78360128 single base substitution G A missense_variant R4873Q 14618G>A UCEC-US 17 78360128 78360128 single base substitution G A missense_variant R4922Q 14765G>A UCEC-US 17 78360128 78360128 single base substitution G A upstream_gene_variant UCEC-US 17 78360198 78360198 single base substitution C T downstream_gene_variant UCEC-US 17 78360198 78360198 single base substitution C T exon_variant UCEC-US 17 78360198 78360198 single base substitution C T synonymous_variant Y2969Y 8907C>T UCEC-US 17 78360198 78360198 single base substitution C T synonymous_variant Y4896Y 14688C>T UCEC-US 17 78360198 78360198 single base substitution C T synonymous_variant Y4945Y 14835C>T UCEC-US 17 78360198 78360198 single base substitution C T upstream_gene_variant UCEC-US 17 78360622 78360622 single base substitution C T downstream_gene_variant UCEC-US 17 78360622 78360622 single base substitution C T exon_variant UCEC-US 17 78360622 78360622 single base substitution C T synonymous_variant F3024F 9072C>T UCEC-US 17 78360622 78360622 single base substitution C T synonymous_variant F4951F 14853C>T UCEC-US 17 78360622 78360622 single base substitution C T synonymous_variant F5000F 15000C>T UCEC-US 17 78360622 78360622 single base substitution C T upstream_gene_variant UCEC-US 17 78360648 78360648 single base substitution T C downstream_gene_variant UCEC-US 17 78360648 78360648 single base substitution T C exon_variant UCEC-US 17 78360648 78360648 single base substitution T C missense_variant I3033T 9098T>C UCEC-US 17 78360648 78360648 single base substitution T C missense_variant I4960T 14879T>C UCEC-US 17 78360648 78360648 single base substitution T C missense_variant I5009T 15026T>C UCEC-US 17 78360648 78360648 single base substitution T C upstream_gene_variant UCEC-US 17 78363145 78363145 single base substitution A G downstream_gene_variant UCEC-US 17 78363145 78363145 single base substitution A G exon_variant UCEC-US 17 78363145 78363145 single base substitution A G missense_variant D3131G 9392A>G UCEC-US 17 78363145 78363145 single base substitution A G missense_variant D5058G 15173A>G UCEC-US 17 78363145 78363145 single base substitution A G missense_variant D5107G 15320A>G UCEC-US 17 78363638 78363638 single base substitution G A downstream_gene_variant UCEC-US 17 78363638 78363638 single base substitution G A exon_variant UCEC-US 17 78363638 78363638 single base substitution G A missense_variant R3142K 9425G>A UCEC-US 17 78363638 78363638 single base substitution G A missense_variant R5069K 15206G>A UCEC-US 17 78363638 78363638 single base substitution G A missense_variant R5118K 15353G>A UCEC-US 17 78363970 78363970 single base substitution C T downstream_gene_variant UCEC-US 17 78363970 78363970 single base substitution C T exon_variant UCEC-US 17 78363970 78363970 single base substitution C T synonymous_variant T3221T 9663C>T UCEC-US 17 78363970 78363970 single base substitution C T synonymous_variant T5148T 15444C>T UCEC-US 17 78363970 78363970 single base substitution C T synonymous_variant T5197T 15591C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-16-T COSM4459451 c.5485C>T p.H1829Y Substitution - Missense 17:80361799-80361799 + TCGA-BR-4201-01 COSM258577 c.7877C>T p.T2626M Substitution - Missense 17:80380848-80380848 + TCGA-D5-6540-01 COSM1387092 c.3809A>C p.K1270T Substitution - Missense 17:80347925-80347925 + HF-23896 COSM1197734 c.4555C>T p.R1519W Substitution - Missense 17:80352972-80352972 + SH-1641 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-CM-6674-01 COSM1387088 c.1490G>A p.C497Y Substitution - Missense 17:80345606-80345606 + pfg020T COSM1640889 c.5010G>T p.Q1670H Substitution - Missense 17:80354505-80354505 + SH-1362 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-AB-2937-03 COSM1318425 c.3517G>C p.V1173L Substitution - Missense 17:80347633-80347633 + LUAD-E00897 COSM364430 c.6774G>A p.K2258K Substitution - coding silent 17:80372538-80372538 + 2492703 COSM5600372 c.2845C>T p.H949Y Substitution - Missense 17:80346961-80346961 + P110 COSM5008122 c.7384A>G p.S2462G Substitution - Missense 17:80375850-80375850 + P9 COSM4000339 c.1464G>C p.P488P Substitution - coding silent 17:80345580-80345580 + CHC1207T COSM4800183 c.1416T>C p.N472N Substitution - coding silent 17:80345532-80345532 + TCGA-BR-7959-01 COSM4070492 c.7482G>A p.S2494S Substitution - coding silent 17:80376378-80376378 + B80-0-Tumor COSM1750393 c.7548G>A p.V2516V Substitution - coding silent 17:80376444-80376444 + TCGA-AN-A046-01 COSM5833455 c.4574_4575insA p.S1526fs*2 Insertion - Frameshift 17:80352991-80352992 + TCGA-C5-A7X3-01 COSM4842937 c.546G>A p.R182R Substitution - coding silent 17:80344000-80344000 + TCGA-JW-A69B-01 COSM4829516 c.8902G>T p.V2968F Substitution - Missense 17:80386393-80386393 + TCGA-BR-8680-01 COSM4070496 c.8000C>T p.A2667V Substitution - Missense 17:80380971-80380971 + 61 COSM985680 c.7514C>T p.A2505V Substitution - Missense 17:80376410-80376410 + PCSI_0537_Pa_P_526 COSM196365 c.6119C>T p.T2040M Substitution - Missense 17:80367776-80367776 + P26 COSM5008605 c.1245G>A p.K415K Substitution - coding silent 17:80345361-80345361 + 85T COSM5575892 c.1749G>C p.Q583H Substitution - Missense 17:80345865-80345865 + SH-1362 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + ESO-077 COSM1264381 c.5655G>T p.P1885P Substitution - coding silent 17:80363182-80363182 + EGC15 COSM2804010 c.9494G>A p.R3165Q Substitution - Missense 17:80389907-80389907 + pfg127T COSM4757886 c.4285T>C p.Y1429H Substitution - Missense 17:80349884-80349884 + 488077 COSM5702610 c.7060C>T p.R2354W Substitution - Missense 17:80373064-80373064 + SH-2871 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + B80-0 COSM1750393 c.7548G>A p.V2516V Substitution - coding silent 17:80376444-80376444 + Gp5D COSM2803996 c.9243T>C p.I3081I Substitution - coding silent 17:80389196-80389196 + T3021 COSM4722095 c.538C>T p.P180S Substitution - Missense 17:80343992-80343992 + YUOTHO COSM5387586 c.2084C>T p.S695F Substitution - Missense 17:80346200-80346200 + RC-14 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + SC_9021 COSM5565590 c.3938G>A p.R1313Q Substitution - Missense 17:80348054-80348054 + TCGA-FD-A3SJ-01 COSM3796195 c.3918C>T p.V1306V Substitution - coding silent 17:80348034-80348034 + TCGA-HU-A4GQ-01 COSM4070502 c.8387T>C p.V2796A Substitution - Missense 17:80383774-80383774 + 8031121 COSM218544 c.3531delC p.L1178fs*44 Deletion - Frameshift 17:80347647-80347647 + PDA_057 COSM5000987 c.2567C>A p.A856E Substitution - Missense 17:80346683-80346683 + BD236T COSM5519524 c.2270C>T p.S757L Substitution - Missense 17:80346386-80346386 + D12 COSM5006901 c.4375C>T p.R1459C Substitution - Missense 17:80350368-80350368 + RC-7 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + SH-3133 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + TCGA-BS-A0UF-01 COSM985696 c.8580T>G p.I2860M Substitution - Missense 17:80385077-80385077 + TCGA-AM-5820-01 COSM3755994 c.7026G>A p.R2342R Substitution - coding silent 17:80373030-80373030 + P100 COSM985629 c.1000G>T p.D334Y Substitution - Missense 17:80345116-80345116 + TCGA-DK-A1AG-01 COSM1303476 c.892C>T p.Q298* Substitution - Nonsense 17:80345008-80345008 + 587234 COSM1223981 c.4007C>T p.T1336M Substitution - Missense 17:80348123-80348123 + TCGA-F4-6856-01 COSM1324745 c.2572G>A p.A858T Substitution - Missense 17:80346688-80346688 + HCC107T COSM1610950 c.4621G>A p.A1541T Substitution - Missense 17:80353038-80353038 + BCM423T COSM4802609 c.5267A>G p.N1756S Substitution - Missense 17:80358473-80358473 + SH-1362 COSM5019331 c.7066C>A p.L2356I Substitution - Missense 17:80373070-80373070 + BD121T COSM5515654 c.9277G>A p.D3093N Substitution - Missense 17:80389230-80389230 + 8016470 COSM2803680 c.1528C>T p.R510W Substitution - Missense 17:80345644-80345644 + TCGA-DU-6410-01 COSM220051 c.3018G>A p.A1006A Substitution - coding silent 17:80347134-80347134 + 41T COSM3712593 c.262G>A p.V88M Substitution - Missense 17:80343185-80343185 + TCGA-BS-A0UV-01 COSM985704 c.9072C>T p.F3024F Substitution - coding silent 17:80386822-80386822 + 1517_PT COSM5755171 c.3898G>A p.A1300T Substitution - Missense 17:80348014-80348014 + TCGA-B5-A11E-01 COSM985619 c.250A>G p.M84V Substitution - Missense 17:80343173-80343173 + SH-1362 COSM3755996 c.9498G>A p.L3166L Substitution - coding silent 17:80389911-80389911 + T1240 COSM284629 c.238G>A p.D80N Substitution - Missense 17:80343161-80343161 + CCK81 COSM2803692 c.1850G>A p.G617D Substitution - Missense 17:80345966-80345966 + CPCG0103-P2 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + CPCG0183-P2 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-EP-A2KA-01 COSM4917303 c.6353C>A p.P2118Q Substitution - Missense 17:80368122-80368122 + TCGA-D1-A103-01 COSM985712 c.9663C>T p.T3221T Substitution - coding silent 17:80390170-80390170 + TCGA-AG-A00Y-01 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + SH-4435 COSM3732787 c.770A>G p.Q257R Substitution - Missense 17:80344886-80344886 + pfg129T COSM1680132 c.8839C>T p.R2947W Substitution - Missense 17:80386330-80386330 + GC8_T COSM148360 c.990G>A p.K330K Substitution - coding silent 17:80289715-80289715 + SH-3776 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + TCGA-IR-A3LA-01 COSM4845600 c.963G>C p.K321N Substitution - Missense 17:80345079-80345079 + TCGA-AX-A0J1-01 COSM985655 c.4124C>T p.A1375V Substitution - Missense 17:80348240-80348240 + TCGA-46-3769-01 COSM708720 c.4268A>G p.Q1423R Substitution - Missense 17:80349867-80349867 + LUAD-RT-S01774 COSM381441 c.7918G>T p.V2640L Substitution - Missense 17:80380889-80380889 + 100912 COSM95201 c.8488G>C p.E2830Q Substitution - Missense 17:80383875-80383875 + DN120F1 COSM5019473 c.8413A>G p.K2805E Substitution - Missense 17:80383800-80383800 + TCGA-CG-5726-01 COSM4070514 c.9397A>G p.T3133A Substitution - Missense 17:80389350-80389350 + 06-P036 COSM4580221 c.1802G>A p.R601Q Substitution - Missense 17:80345918-80345918 + TCGA-A8-A07R-01 COSM5833451 c.1049delA p.H350fs*13 Deletion - Frameshift 17:80345165-80345165 + YUKAT COSM5387596 c.8390C>T p.T2797I Substitution - Missense 17:80383777-80383777 + OPM2 COSM1235857 c.7414G>A p.A2472T Substitution - Missense 17:80376310-80376310 + 587228 COSM1223970 c.2923C>T p.R975C Substitution - Missense 17:80347039-80347039 + HCT15 COSM2803892 c.6523C>T p.R2175C Substitution - Missense 17:80369650-80369650 + SH-3458 COSM5008484 c.6207G>A p.P2069P Substitution - coding silent 17:80367976-80367976 + SH-4435 COSM5019331 c.7066C>A p.L2356I Substitution - Missense 17:80373070-80373070 + BD239T COSM5497289 c.7938G>C p.G2646G Substitution - coding silent 17:80380909-80380909 + TCGA-BR-8078-01 COSM4070488 c.7114G>A p.G2372S Substitution - Missense 17:80373118-80373118 + TCGA-DI-A0WH-01 COSM985714 c.9734A>G p.E3245G Substitution - Missense 17:80393389-80393389 + TCGA-AM-5820-01 COSM3755990 c.5731G>C p.V1911L Substitution - Missense 17:80363258-80363258 + 107597 COSM96189 c.3747C>T p.I1249I Substitution - coding silent 17:80347863-80347863 + 12-P279 COSM4580223 c.2286C>T p.I762I Substitution - coding silent 17:80346402-80346402 + TCGA-CA-6718-01 COSM1387078 c.427C>A p.L143I Substitution - Missense 17:80343881-80343881 + LUAD-S01315 COSM344617 c.9370C>G p.Q3124E Substitution - Missense 17:80389323-80389323 + J87_T COSM76265 c.432C>G p.F144L Substitution - Missense 17:80343886-80343886 + CSCC-27-T COSM4514712 c.4070C>T p.S1357L Substitution - Missense 17:80348186-80348186 + RC-6 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + CSCC-20-T COSM4458578 c.5120C>T p.P1707L Substitution - Missense 17:80358326-80358326 + SH-6055 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + 4_RESISTANT COSM1724255 c.3780C>T p.I1260I Substitution - coding silent 17:80347896-80347896 + P85 COSM4000339 c.1464G>C p.P488P Substitution - coding silent 17:80345580-80345580 + TCGA-BR-4184-01 COSM4070424 c.298G>A p.D100N Substitution - Missense 17:80343221-80343221 + TCGA-BH-A0HF-01 COSM3820934 c.7421G>A p.S2474N Substitution - Missense 17:80376317-80376317 + HCC101T COSM5813280 c.5895G>T p.P1965P Substitution - coding silent 17:80363716-80363716 + 8 COSM4166839 c.3366C>T p.Y1122Y Substitution - coding silent 17:80347482-80347482 + P134 COSM5010132 c.2766G>A p.A922A Substitution - coding silent 17:80346882-80346882 + HCC169T COSM3717749 c.4348T>G p.F1450V Substitution - Missense 17:80350341-80350341 + SH-9248 COSM5020958 c.8249G>T p.W2750L Substitution - Missense 17:80383030-80383030 + 2492709 COSM5717939 c.972G>A p.V324V Substitution - coding silent 17:80345088-80345088 + RC-16 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + TCGA-D9-A6EC-06 COSM4401224 c.1102C>T p.R368W Substitution - Missense 17:80345218-80345218 + TCGA-FD-A3SO-01 COSM3796191 c.87C>T p.L29L Substitution - coding silent 17:80340235-80340235 + 385 COSM4426910 c.4481C>T p.S1494F Substitution - Missense 17:80351762-80351762 + SNU-C2B COSM2803824 c.5283T>C p.G1761G Substitution - coding silent 17:80360070-80360070 + TCGA-BR-4361-01 COSM4070468 c.6040G>A p.V2014I Substitution - Missense 17:80364503-80364503 + 112467 COSM96187 c.2532C>T p.P844P Substitution - coding silent 17:80346648-80346648 + TCGA-B5-A11H-01 COSM985627 c.902A>T p.D301V Substitution - Missense 17:80345018-80345018 + TCGA-D1-A16Y-01 COSM985631 c.2049C>T p.N683N Substitution - coding silent 17:80346165-80346165 + ESO-327 COSM1264383 c.9508C>T p.P3170S Substitution - Missense 17:80390015-80390015 + TCGA-EE-A3JD-06 COSM4395724 c.5674C>T p.Q1892* Substitution - Nonsense 17:80363201-80363201 + TCGA-AA-A010-01 COSM284629 c.238G>A p.D80N Substitution - Missense 17:80343161-80343161 + TCGA-BH-A18G-01 COSM3820926 c.3878G>A p.G1293D Substitution - Missense 17:80347994-80347994 + TCGA-36-1568-01 COSM82339 c.2418G>A p.L806L Substitution - coding silent 17:80346534-80346534 + T3225 COSM4722117 c.5548C>T p.R1850C Substitution - Missense 17:80361862-80361862 + CSCC-16-T COSM4510171 c.2517C>T p.F839F Substitution - coding silent 17:80346633-80346633 + ESCC_103 COSM5638168 c.1176C>T p.G392G Substitution - coding silent 17:80345292-80345292 + P85 COSM5009495 c.7044C>T p.H2348H Substitution - coding silent 17:80373048-80373048 + BD87T COSM5505416 c.2363A>G p.Y788C Substitution - Missense 17:80346479-80346479 + TCGA-B5-A0JV-01 COSM985668 c.6172G>A p.A2058T Substitution - Missense 17:80367829-80367829 + TCGA-BR-6452-01 COSM4070432 c.865C>T p.R289W Substitution - Missense 17:80344981-80344981 + TCGA-A5-A0GP-01 COSM985663 c.5263A>G p.N1755D Substitution - Missense 17:80358469-80358469 + U266 COSM1235855 c.1491T>G p.C497W Substitution - Missense 17:80345607-80345607 + B70 COSM1750391 c.5141C>T p.S1714L Substitution - Missense 17:80358347-80358347 + TCGA-BR-8360-01 COSM4070434 c.1387G>A p.D463N Substitution - Missense 17:80345503-80345503 + ESO-0053 COSM1264377 c.5649C>T p.S1883S Substitution - coding silent 17:80363176-80363176 + RK121_C01 COSM3742495 c.3737A>G p.Y1246C Substitution - Missense 17:80347853-80347853 + SH-3133 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + pfg125T COSM4747519 c.4388delT p.L1463fs*10 Deletion - Frameshift 17:80350381-80350381 + TCGA-BR-8680-01 COSM985704 c.9072C>T p.F3024F Substitution - coding silent 17:80386822-80386822 + 120T COSM5575957 c.9613G>C p.E3205Q Substitution - Missense 17:80390120-80390120 + BCB301T COSM2803852 c.5935G>A p.G1979R Substitution - Missense 17:80363756-80363756 + QC2-03-T2 COSM5651818 c.3547G>A p.E1183K Substitution - Missense 17:80347663-80347663 + SH-1641 COSM5019473 c.8413A>G p.K2805E Substitution - Missense 17:80383800-80383800 + TCGA-46-3768-01 COSM708716 c.5967C>G p.V1989V Substitution - coding silent 17:80363788-80363788 + TCGA-A2-A04Y-01 COSM437745 c.6893A>C p.Y2298S Substitution - Missense 17:80372657-80372657 + TCGA-18-3419-01 COSM708722 c.4084C>T p.H1362Y Substitution - Missense 17:80348200-80348200 + PCSI_0124_Pa_X COSM3378451 c.1395G>A p.T465T Substitution - coding silent 17:80345511-80345511 + TARGET-30-PASXNN COSM1287661 c.2928C>A p.G976G Substitution - coding silent 17:80347044-80347044 + TCGA-EI-6507-01 COSM1564145 c.8501G>A p.G2834D Substitution - Missense 17:80383888-80383888 + 1N64-VS-1T64 COSM2803950 c.7740C>T p.N2580N Substitution - coding silent 17:80377772-80377772 + SH-5693 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-BR-8361-01 COSM4070458 c.4717G>A p.A1573T Substitution - Missense 17:80353586-80353586 + TCGA-AP-A059-01 COSM985682 c.7652C>T p.A2551V Substitution - Missense 17:80376886-80376886 + 112521 COSM94578 c.604G>A p.G202R Substitution - Missense 17:80288157-80288157 + 862-01-10TD COSM5175647 c.5820G>A p.T1940T Substitution - coding silent 17:80363641-80363641 + TCGA-AZ-4315-01 COSM1387127 c.9622G>A p.E3208K Substitution - Missense 17:80390129-80390129 + B89-4-Tumor COSM1750389 c.685C>G p.L229V Substitution - Missense 17:80344801-80344801 + TCGA-AM-5820-01 COSM3755992 c.5963A>G p.E1988G Substitution - Missense 17:80363784-80363784 + LUAD_E00522 COSM352682 c.5274-1G>C p.? Unknown 17:80360060-80360060 + 1946219 COSM1197734 c.4555C>T p.R1519W Substitution - Missense 17:80352972-80352972 + TCGA-BR-8372-01 COSM4070438 c.1575C>T p.H525H Substitution - coding silent 17:80345691-80345691 + TCGA-AP-A0LM-01 COSM985621 c.290G>A p.R97Q Substitution - Missense 17:80343213-80343213 + TCGA-61-1730-01 COSM1324745 c.2572G>A p.A858T Substitution - Missense 17:80346688-80346688 + Pat_16_A COSM2803732 c.3079C>T p.R1027C Substitution - Missense 17:80347195-80347195 + TCGA-CG-5733-01 COSM4070436 c.1410C>A p.T470T Substitution - coding silent 17:80345526-80345526 + SM-4JPUV COSM5952116 c.508G>A p.V170I Substitution - Missense 17:80343962-80343962 + TCGA-AM-5820-01 COSM1387121 c.9540G>A p.A3180A Substitution - coding silent 17:80390047-80390047 + TCGA-G2-A2EO-01 COSM1303482 c.8720C>G p.S2907C Substitution - Missense 17:80385583-80385583 + SH-7166 COSM3755994 c.7026G>A p.R2342R Substitution - coding silent 17:80373030-80373030 + TCGA-AG-3592-01 COSM3421995 c.260A>G p.N87S Substitution - Missense 17:80343183-80343183 + TCGA-37-4135-01 COSM708718 c.5450A>C p.Q1817P Substitution - Missense 17:80361764-80361764 + TCGA-DW-7834-01 COSM3989407 c.3660C>T p.R1220R Substitution - coding silent 17:80347776-80347776 + HCT15 COSM4623693 c.100G>T p.A34S Substitution - Missense 17:80340248-80340248 + P46 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + BN28 COSM1610952 c.7462A>G p.I2488V Substitution - Missense 17:80376358-80376358 + ESCC_BICR_025T COSM5434416 c.5618C>T p.A1873V Substitution - Missense 17:80363145-80363145 + TCGA-D3-A2JN-06 COSM3523394 c.4059G>A p.A1353A Substitution - coding silent 17:80348175-80348175 + SW48 COSM2803842 c.5781T>C p.C1927C Substitution - coding silent 17:80363308-80363308 + B70-Tumor COSM1750391 c.5141C>T p.S1714L Substitution - Missense 17:80358347-80358347 + YUMER COSM1710881 c.8473C>T p.L2825F Substitution - Missense 17:80383860-80383860 + ESCC-F69 COSM5048326 c.5062C>T p.Q1688* Substitution - Nonsense 17:80354557-80354557 + 07-P8041 COSM4580225 c.3875T>C p.I1292T Substitution - Missense 17:80347991-80347991 + TCGA-E5-A2PC-01 COSM1303480 c.2219C>G p.S740C Substitution - Missense 17:80346335-80346335 + TCGA-BS-A0UL-01 COSM985670 c.6275G>A p.R2092H Substitution - Missense 17:80368044-80368044 + TCGA-BS-A0UV-01 COSM985700 c.8837G>A p.R2946Q Substitution - Missense 17:80386328-80386328 + T3080 COSM4722115 c.5125C>T p.L1709L Substitution - coding silent 17:80358331-80358331 + SH-5693 COSM5019331 c.7066C>A p.L2356I Substitution - Missense 17:80373070-80373070 + BD49T COSM5498286 c.2421C>T p.D807D Substitution - coding silent 17:80346537-80346537 + TCGA-DK-A3WW-01 COSM3796197 c.5061C>G p.L1687L Substitution - coding silent 17:80354556-80354556 + TCGA-A8-A095-01 COSM437743 c.3931G>A p.G1311S Substitution - Missense 17:80348047-80348047 + T3658 COSM985635 c.2355G>A p.P785P Substitution - coding silent 17:80346471-80346471 + LUAD-B01970 COSM356055 c.982A>C p.M328L Substitution - Missense 17:80345098-80345098 + SH-102782 COSM4418208 c.8001G>A p.A2667A Substitution - coding silent 17:80380972-80380972 + TCGA-24-0980-01 COSM76268 c.9551C>T p.P3184L Substitution - Missense 17:80390058-80390058 + OSCC-GB_00990111 COSM4885774 c.6814G>T p.E2272* Substitution - Nonsense 17:80372578-80372578 + sysucc-867T COSM5486892 c.3887C>T p.S1296L Substitution - Missense 17:80348003-80348003 + TCGA-33-4566-01 COSM708732 c.643G>C p.E215Q Substitution - Missense 17:80344759-80344759 + sysucc-311T COSM5055857 c.7118G>A p.R2373H Substitution - Missense 17:80373122-80373122 + TCGA-BS-A0UF-01 COSM985659 c.4785C>T p.L1595L Substitution - coding silent 17:80353654-80353654 + TCGA-ER-A194-01 COSM3523396 c.4117C>T p.L1373F Substitution - Missense 17:80348233-80348233 + SH-9248 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + L363 COSM1236133 c.7759G>T p.G2587* Substitution - Nonsense 17:80377791-80377791 + 113720 COSM94580 c.2615C>T p.A872V Substitution - Missense 17:80309131-80309131 + L363 COSM1236135 c.9124C>G p.P3042A Substitution - Missense 17:80386874-80386874 + Pa29C COSM84420 c.2515T>A p.F839I Substitution - Missense 17:80346631-80346631 + P140 COSM247071 c.6120G>A p.T2040T Substitution - coding silent 17:80367777-80367777 + CCK81 COSM2803916 c.7115G>C p.G2372A Substitution - Missense 17:80373119-80373119 + TCGA-F5-6814-01 COSM3421997 c.1985C>T p.A662V Substitution - Missense 17:80346101-80346101 + TCGA-GF-A6C8-06 COSM3890638 c.4638T>C p.P1546P Substitution - coding silent 17:80353055-80353055 + TCGA-FC-A4JI-01 COSM4393407 c.2765C>T p.A922V Substitution - Missense 17:80346881-80346881 + Single_Sample COSM4606428 c.6203A>T p.Q2068L Substitution - Missense 17:80367972-80367972 + TCGA-AZ-4315-01 COSM985635 c.2355G>A p.P785P Substitution - coding silent 17:80346471-80346471 + ACINAR01 COSM1264385 c.7093G>A p.V2365M Substitution - Missense 17:80373097-80373097 + TCGA-46-6025-01 COSM708734 c.457A>G p.M153V Substitution - Missense 17:80343911-80343911 + PD22362a COSM5780649 c.1292G>A p.R431K Substitution - Missense 17:80345408-80345408 + PD4116a COSM219533 c.3296C>T p.S1099F Substitution - Missense 17:80347412-80347412 + Pat_24_A COSM985637 c.2368G>A p.D790N Substitution - Missense 17:80346484-80346484 + TCGA-DR-A0ZM-01 COSM460179 c.4977C>T p.L1659L Substitution - coding silent 17:80354472-80354472 + RKO COSM4614820 c.4346delT p.Q1451fs*22 Deletion - Frameshift 17:80350339-80350339 + LUAD-5O6B5 COSM330689 c.3649C>T p.P1217S Substitution - Missense 17:80347765-80347765 + 587226 COSM1223968 c.5413G>A p.A1805T Substitution - Missense 17:80360200-80360200 + TCGA-BR-8059-01 COSM4070504 c.8559G>T p.L2853L Substitution - coding silent 17:80385056-80385056 + T3444 COSM4722135 c.9323T>G p.L3108R Substitution - Missense 17:80389276-80389276 + PD22362a COSM5769209 c.1236G>A p.K412K Substitution - coding silent 17:80345352-80345352 + TCGA-B5-A11E-01 COSM985661 c.5200G>A p.A1734T Substitution - Missense 17:80358406-80358406 + CRC-19T COSM5481409 c.3351G>A p.V1117V Substitution - coding silent 17:80347467-80347467 + SH-85592 COSM5018106 c.2608C>A p.R870S Substitution - Missense 17:80346724-80346724 + TCGA-B5-A0JY-01 COSM985625 c.703G>A p.E235K Substitution - Missense 17:80344819-80344819 + 61 COSM5741184 c.5643G>T p.E1881D Substitution - Missense 17:80363170-80363170 + TCGA-AO-A128-01 COSM3820920 c.2724G>A p.Q908Q Substitution - coding silent 17:80346840-80346840 + SNU-175 COSM2803844 c.5797G>A p.A1933T Substitution - Missense 17:80363618-80363618 + 254 COSM3731646 c.933T>A p.S311R Substitution - Missense 17:80345049-80345049 + CSCC-56-T COSM4459110 c.5347C>T p.P1783S Substitution - Missense 17:80360134-80360134 + YUKAT COSM5387592 c.5214G>A p.W1738* Substitution - Nonsense 17:80358420-80358420 + P85 COSM5009497 c.7890C>T p.H2630H Substitution - coding silent 17:80380861-80380861 + HCT15 COSM2804000 c.9288A>G p.E3096E Substitution - coding silent 17:80389241-80389241 + LAU618 COSM235293 c.507C>T p.I169I Substitution - coding silent 17:80343961-80343961 + TCGA-B7-5818-01 COSM4070484 c.6971-1G>C p.? Unknown 17:80372974-80372974 + J30_T COSM3958908 c.4475A>C p.K1492T Substitution - Missense 17:80351756-80351756 + 106 COSM4170008 c.8674+1G>A p.? Unknown 17:80385172-80385172 + YUGURT COSM5387582 c.750C>G p.N250K Substitution - Missense 17:80344866-80344866 + P151 COSM5008188 c.9268T>C p.S3090P Substitution - Missense 17:80389221-80389221 + PTC-28C COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + TCGA-B5-A11E-01 COSM985657 c.4742A>C p.E1581A Substitution - Missense 17:80353611-80353611 + PCSI_0124_Pa_P COSM3378451 c.1395G>A p.T465T Substitution - coding silent 17:80345511-80345511 + TCGA-B6-A0I6-01 COSM437750 c.9170A>G p.D3057G Substitution - Missense 17:80388640-80388640 + AOCS-120-3-6 COSM4139934 c.1516C>G p.L506V Substitution - Missense 17:80345632-80345632 + TCGA-46-3765-01 COSM708712 c.7171C>A p.Q2391K Substitution - Missense 17:80374467-80374467 + CSCC-44-T COSM4465091 c.7903C>T p.P2635S Substitution - Missense 17:80380874-80380874 + S02-15015-TP COSM4991115 c.4409C>T p.S1470F Substitution - Missense 17:80351690-80351690 + TCGA-BR-4361-01 COSM4070428 c.421G>C p.V141L Substitution - Missense 17:80343875-80343875 + TCGA-BS-A0UL-01 COSM985702 c.8907C>T p.Y2969Y Substitution - coding silent 17:80386398-80386398 + PA285 COSM1163179 c.5348C>T p.P1783L Substitution - Missense 17:80360135-80360135 + ICGC_0006 COSM218544 c.3531delC p.L1178fs*44 Deletion - Frameshift 17:80347647-80347647 + TCGA-D1-A176-01 COSM985694 c.8411G>A p.R2804Q Substitution - Missense 17:80383798-80383798 + TCGA-CG-5721-01 COSM4070476 c.6657A>G p.V2219V Substitution - coding silent 17:80371886-80371886 + TCGA-FW-A3R5-06 COSM3890634 c.2131C>T p.L711F Substitution - Missense 17:80346247-80346247 + GHE0624 COSM5714387 c.9674T>G p.F3225C Substitution - Missense 17:80390181-80390181 + TCGA-22-5482-01 COSM708714 c.6194T>G p.F2065C Substitution - Missense 17:80367963-80367963 + MedB-1 COSM5621715 c.4073A>G p.Q1358R Substitution - Missense 17:80348189-80348189 + TCGA-AC-A23H-01 COSM3820938 c.9286G>A p.E3096K Substitution - Missense 17:80389239-80389239 + 77 COSM3732787 c.770A>G p.Q257R Substitution - Missense 17:80344886-80344886 + 587234 COSM1223977 c.6304C>T p.Q2102* Substitution - Nonsense 17:80368073-80368073 + TCGA-HU-A4H3-01 COSM196365 c.6119C>T p.T2040M Substitution - Missense 17:80367776-80367776 + Pat_60_A COSM5853728 c.1150G>A p.D384N Substitution - Missense 17:80345266-80345266 + TCGA-EE-A2GC-06 COSM3523404 c.5648C>T p.S1883F Substitution - Missense 17:80363175-80363175 + 1517_CLM COSM5755171 c.3898G>A p.A1300T Substitution - Missense 17:80348014-80348014 + T2269 COSM4722121 c.6300A>C p.S2100S Substitution - coding silent 17:80368069-80368069 + SNU-175 COSM2803876 c.6145C>T p.R2049C Substitution - Missense 17:80367802-80367802 + CHC917T COSM3668078 c.8230A>G p.K2744E Substitution - Missense 17:80383011-80383011 + SH-8559 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + CSCC-60-T COSM4466577 c.8642C>T p.S2881F Substitution - Missense 17:80385139-80385139 + SH-7032 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + TCGA-BH-A0B6-01 COSM3820916 c.2086C>G p.Q696E Substitution - Missense 17:80346202-80346202 + TCGA-BR-6566-01 COSM4070512 c.9276C>T p.S3092S Substitution - coding silent 17:80389229-80389229 + 388 COSM4427423 c.9679C>T p.P3227S Substitution - Missense 17:80390186-80390186 + PD4199a COSM219668 c.8251G>T p.E2751* Substitution - Nonsense 17:80383032-80383032 + PTC_435 COSM5957126 c.8098T>G p.L2700V Substitution - Missense 17:80381628-80381628 + ESCC_143 COSM5644130 c.464T>C p.I155T Substitution - Missense 17:80343918-80343918 + TCGA-G7-6789-01 COSM3989409 c.8061C>G p.G2687G Substitution - coding silent 17:80381591-80381591 + 381 COSM4426451 c.4058C>T p.A1353V Substitution - Missense 17:80348174-80348174 + RC-5 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + 100615 COSM95200 c.7576G>A p.V2526I Substitution - Missense 17:80376472-80376472 + HCT8 COSM2803892 c.6523C>T p.R2175C Substitution - Missense 17:80369650-80369650 + TCGA-CG-4442-01 COSM4070471 c.6269G>A p.C2090Y Substitution - Missense 17:80368038-80368038 + TCGA-D7-8579-01 COSM4070490 c.7169G>A p.R2390Q Substitution - Missense 17:80374465-80374465 + RK060_C01 COSM3701314 c.2193C>G p.L731L Substitution - coding silent 17:80346309-80346309 + LS411 COSM2803766 c.3937C>T p.R1313W Substitution - Missense 17:80348053-80348053 + PDA_004 COSM4997930 c.8164C>G p.L2722V Substitution - Missense 17:80381694-80381694 + ESO-718 COSM1264385 c.7093G>A p.V2365M Substitution - Missense 17:80373097-80373097 + LC_C26 COSM1189604 c.3202G>A p.A1068T Substitution - Missense 17:80347318-80347318 + CSCC-38-T COSM4505220 c.1098C>T p.S366S Substitution - coding silent 17:80345214-80345214 + TCGA-HU-A4GQ-01 COSM4070456 c.4578T>C p.S1526S Substitution - coding silent 17:80352995-80352995 + PD13625a COSM5780204 c.138C>T p.T46T Substitution - coding silent 17:80340286-80340286 + TCGA-EK-A3GK-01 COSM4854247 c.5014C>T p.H1672Y Substitution - Missense 17:80354509-80354509 + Gp2D COSM2803996 c.9243T>C p.I3081I Substitution - coding silent 17:80389196-80389196 + EGC15 COSM5055857 c.7118G>A p.R2373H Substitution - Missense 17:80373122-80373122 + TCGA-EE-A184-06 COSM3523392 c.4044G>T p.L1348L Substitution - coding silent 17:80348160-80348160 + BD184T COSM5517708 c.8849G>A p.G2950D Substitution - Missense 17:80386340-80386340 + SH-1439 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + P85 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + TCGA-EB-A5UL-06 COSM3523386 c.3417G>A p.P1139P Substitution - coding silent 17:80347533-80347533 + TCGA-LP-A5U2-01 COSM3820916 c.2086C>G p.Q696E Substitution - Missense 17:80346202-80346202 + TCGA-BS-A0UA-01 COSM985672 c.6438G>A p.V2146V Substitution - coding silent 17:80369565-80369565 + CPCG0246-F1 COSM4880280 c.6220C>G p.L2074V Substitution - Missense 17:80367989-80367989 + LOVO COSM2803756 c.3629G>A p.R1210H Substitution - Missense 17:80347745-80347745 + TCGA-AP-A0LD-01 COSM985706 c.9098T>C p.I3033T Substitution - Missense 17:80386848-80386848 + T3340 COSM2803726 c.2905C>T p.R969W Substitution - Missense 17:80347021-80347021 + 42T COSM3718532 c.7877C>A p.T2626K Substitution - Missense 17:80380848-80380848 + TCGA-AM-5821-01 COSM3755996 c.9498G>A p.L3166L Substitution - coding silent 17:80389911-80389911 + ESCC_55 COSM5631828 c.4176C>T p.T1392T Substitution - coding silent 17:80349775-80349775 + SC_9100 COSM5566198 c.8702G>A p.R2901K Substitution - Missense 17:80385565-80385565 + 250LT COSM4383088 c.1717G>T p.E573* Substitution - Nonsense 17:80345833-80345833 + LUAD-B01970 COSM356057 c.1675T>G p.F559V Substitution - Missense 17:80345791-80345791 + Br27P COSM40863 c.7079G>A p.R2360Q Substitution - Missense 17:80373083-80373083 + P134 COSM2803939 c.7486G>A p.V2496M Substitution - Missense 17:80376382-80376382 + PCSI_0193_Pa_P COSM3378390 c.7210G>A p.G2404S Substitution - Missense 17:80374506-80374506 + BHY COSM4592515 c.1881C>A p.D627E Substitution - Missense 17:80345997-80345997 + TCGA-AG-4015-01 COSM259201 c.4949C>T p.S1650F Substitution - Missense 17:80354444-80354444 + TCGA-AA-3663-01 COSM1387102 c.5415_5417delAGA p.E1806delE Deletion - In frame 17:80360202-80360204 + CSCC-38-T COSM4467093 c.8924C>T p.S2975F Substitution - Missense 17:80386415-80386415 + 18 COSM5745350 c.587_589delTTC p.L197delL Deletion - In frame 17:80344703-80344705 + TCGA-CG-5723-01 COSM4070426 c.353C>T p.A118V Substitution - Missense 17:80343276-80343276 + Co108 COSM50445 c.3041C>T p.T1014M Substitution - Missense 17:80347157-80347157 + T3109 COSM4722113 c.4642C>T p.L1548L Substitution - coding silent 17:80353059-80353059 + TCGA-42-2591-01 COSM1324743 c.3367G>A p.V1123M Substitution - Missense 17:80347483-80347483 + PDA_072 COSM5001810 c.1450C>T p.R484W Substitution - Missense 17:80345566-80345566 + Pat_16_B COSM2803732 c.3079C>T p.R1027C Substitution - Missense 17:80347195-80347195 + TCGA-DA-A3F8-06 COSM3523388 c.3651C>T p.P1217P Substitution - coding silent 17:80347767-80347767 + CHC1185T COSM4803229 c.9738T>C p.I3246I Substitution - coding silent 17:80393393-80393393 + GC_357T-GC_357N COSM4774216 c.2643G>T p.Q881H Substitution - Missense 17:80346759-80346759 + TCGA-BR-4368-01 COSM4070462 c.5806G>A p.A1936T Substitution - Missense 17:80363627-80363627 + SNUH_G10_S1 COSM4000339 c.1464G>C p.P488P Substitution - coding silent 17:80345580-80345580 + TCGA-A8-A08H-01 COSM5833458 c.7241_7242insAG p.A2415fs*17 Insertion - Frameshift 17:80374537-80374538 + PR-00-1165 COSM247071 c.6120G>A p.T2040T Substitution - coding silent 17:80367777-80367777 + YUMILAN COSM5387584 c.1130C>T p.P377L Substitution - Missense 17:80345246-80345246 + CSB22 COSM5028390 c.6510C>T p.F2170F Substitution - coding silent 17:80369637-80369637 + CSCC-11-T COSM4527603 c.8995G>C p.E2999Q Substitution - Missense 17:80386745-80386745 + TCGA-EI-6882-01 COSM2804018 c.9600C>T p.D3200D Substitution - coding silent 17:80390107-80390107 + I2L-P19Ta-Tumor-Organoid COSM2803950 c.7740C>T p.N2580N Substitution - coding silent 17:80377772-80377772 + HCC157 COSM3717751 c.6484A>T p.I2162F Substitution - Missense 17:80369611-80369611 + P9 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-C5-A1BQ-01 COSM4842047 c.5635G>A p.E1879K Substitution - Missense 17:80363162-80363162 + TCGA-DD-A39X-01 COSM4940701 c.7028T>C p.V2343A Substitution - Missense 17:80373032-80373032 + PD4116a COSM219533 c.3296C>T p.S1099F Substitution - Missense 17:80347412-80347412 + TCGA-A8-A07R-01 COSM3820914 c.1051A>C p.M351L Substitution - Missense 17:80345167-80345167 + BD124T COSM5493655 c.7097A>C p.Q2366P Substitution - Missense 17:80373101-80373101 + TCGA-33-4586-01 COSM708726 c.2260G>T p.V754F Substitution - Missense 17:80346376-80346376 + CRC-06T COSM5456654 c.1725G>A p.L575L Substitution - coding silent 17:80345841-80345841 + ESCC_36 COSM5628779 c.2509C>T p.P837S Substitution - Missense 17:80346625-80346625 + SH-102782 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + Au4 COSM5604717 c.438C>T p.L146L Substitution - coding silent 17:80343892-80343892 + TCGA-AG-A002-01 COSM263377 c.8209T>G p.F2737V Substitution - Missense 17:80382990-80382990 + CHC918T COSM3668078 c.8230A>G p.K2744E Substitution - Missense 17:80383011-80383011 + LOVO COSM2803844 c.5797G>A p.A1933T Substitution - Missense 17:80363618-80363618 + HT115 COSM263375 c.289C>T p.R97* Substitution - Nonsense 17:80343212-80343212 + TCGA-BR-8363-01 COSM2803892 c.6523C>T p.R2175C Substitution - Missense 17:80369650-80369650 + SH-1362 COSM5019343 c.8291A>G p.H2764R Substitution - Missense 17:80383678-80383678 + LIM2551 COSM2803614 c.71delC p.Q26fs*50 Deletion - Frameshift 17:80340219-80340219 + 229 COSM4426251 c.8551C>T p.L2851L Substitution - coding silent 17:80385048-80385048 + SH-7282 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + I2L-P19Ta-Tumor-Biopsy COSM1387100 c.5344G>A p.V1782I Substitution - Missense 17:80360131-80360131 + TCGA-DM-A1HA-01 COSM1387116 c.8619C>T p.N2873N Substitution - coding silent 17:80385116-80385116 + T2974 COSM4722107 c.4139C>A p.A1380E Substitution - Missense 17:80348255-80348255 + ESCC_BICR_002T COSM5440770 c.5536C>T p.L1846F Substitution - Missense 17:80361850-80361850 + 3N08-VS-3T08 COSM4979022 c.7024C>T p.R2342W Substitution - Missense 17:80373028-80373028 + TCGA-AP-A051-01 COSM985623 c.394A>G p.T132A Substitution - Missense 17:80343317-80343317 + TCGA-EE-A2GN-06 COSM3523380 c.1732C>T p.H578Y Substitution - Missense 17:80345848-80345848 + H1155 COSM1195838 c.6356C>T p.A2119V Substitution - Missense 17:80368125-80368125 + TCGA-AP-A056-01 COSM263375 c.289C>T p.R97* Substitution - Nonsense 17:80343212-80343212 + 522_T COSM3958912 c.7398G>T p.T2466T Substitution - coding silent 17:80375864-80375864 + P50 COSM5010240 c.4454_4455insCTTCGTC p.Y1488fs*32 Insertion - Frameshift 17:80351735-80351736 + pfg122T COSM4757890 c.6184C>A p.L2062I Substitution - Missense 17:80367841-80367841 + HN_62897 COSM125896 c.9596T>A p.L3199Q Substitution - Missense 17:80390103-80390103 + TCGA-BS-A0U8-01 COSM985680 c.7514C>T p.A2505V Substitution - Missense 17:80376410-80376410 + SH-1439 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + RKO COSM4648095 c.1371C>A p.P457P Substitution - coding silent 17:80345487-80345487 + SNU-175 COSM2803784 c.4376G>A p.R1459H Substitution - Missense 17:80350369-80350369 + RK119_C01 COSM3742493 c.3556T>C p.Y1186H Substitution - Missense 17:80347672-80347672 + T3056 COSM4722123 c.6970+2C>A p.? Unknown 17:80372736-80372736 + ESO-075 COSM1264379 c.6462C>T p.N2154N Substitution - coding silent 17:80369589-80369589 + TCGA-AN-A046-01 COSM5833453 c.4571delT p.M1524fs*5 Deletion - Frameshift 17:80352988-80352988 + 1004 COSM5730918 c.6786C>T p.Y2262Y Substitution - coding silent 17:80372550-80372550 + TCGA-AD-5900-01 COSM50446 c.8620G>A p.V2874I Substitution - Missense 17:80385117-80385117 + TCGA-BS-A0UV-01 COSM985643 c.2487C>T p.V829V Substitution - coding silent 17:80346603-80346603 + CSCC-20-T COSM4521506 c.5377G>A p.E1793K Substitution - Missense 17:80360164-80360164 + GC8_T COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + TCGA-IR-A3LA-01 COSM4845372 c.1247G>C p.R416T Substitution - Missense 17:80345363-80345363 + TCGA-EE-A2GC-06 COSM3523415 c.8568C>A p.F2856L Substitution - Missense 17:80385065-80385065 + TCGA-BR-4361-01 COSM4070506 c.8939+2T>C p.? Unknown 17:80386432-80386432 + SH-7282 COSM5019331 c.7066C>A p.L2356I Substitution - Missense 17:80373070-80373070 + 824_T COSM3958914 c.7896G>T p.L2632L Substitution - coding silent 17:80380867-80380867 + TCGA-AX-A0J1-01 COSM985692 c.8362G>A p.A2788T Substitution - Missense 17:80383749-80383749 + LUAD-CHTN-MAD06-00668 COSM391324 c.7660delC p.P2554fs*88 Deletion - Frameshift 17:80376894-80376894 + OSCC-GB_00420111 COSM3718532 c.7877C>A p.T2626K Substitution - Missense 17:80380848-80380848 + CSCC-27-T COSM4506590 c.1461C>T p.I487I Substitution - coding silent 17:80345577-80345577 + TCGA-HF-7132-01 COSM4070518 c.9664G>A p.E3222K Substitution - Missense 17:80390171-80390171 + PTC-7C COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + 2492700 COSM5600372 c.2845C>T p.H949Y Substitution - Missense 17:80346961-80346961 + TCGA-04-1336-01 COSM115823 c.7388T>A p.L2463H Substitution - Missense 17:80375854-80375854 + 1308T COSM5762693 c.8955C>T p.A2985A Substitution - coding silent 17:80386705-80386705 + DLD1 COSM2803892 c.6523C>T p.R2175C Substitution - Missense 17:80369650-80369650 + PD11359a COSM5770067 c.6516A>T p.Q2172H Substitution - Missense 17:80369643-80369643 + TCGA-CU-A3YL-01 COSM3796193 c.643G>A p.E215K Substitution - Missense 17:80344759-80344759 + 42 COSM5733967 c.6820G>T p.E2274* Substitution - Nonsense 17:80372584-80372584 + SC_9036 COSM5565145 c.1532G>A p.R511H Substitution - Missense 17:80345648-80345648 + ESCC-D4 COSM5046273 c.7934G>A p.R2645Q Substitution - Missense 17:80380905-80380905 + HT115 COSM4273023 c.4420G>A p.E1474K Substitution - Missense 17:80351701-80351701 + TCGA-D5-6928-01 COSM1223981 c.4007C>T p.T1336M Substitution - Missense 17:80348123-80348123 + TCGA-AX-A05Z-01 COSM985637 c.2368G>A p.D790N Substitution - Missense 17:80346484-80346484 + RC-4 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + TCGA-CG-5726-01 COSM4070498 c.8226A>G p.S2742S Substitution - coding silent 17:80383007-80383007 + Au1 COSM5597508 c.4312T>C p.C1438R Substitution - Missense 17:80350305-80350305 + HCT8 COSM4634275 c.9598G>T p.D3200Y Substitution - Missense 17:80390105-80390105 + TCGA-AX-A0J0-01 COSM985674 c.6529A>C p.R2177R Substitution - coding silent 17:80369656-80369656 + TCGA-AZ-4615-01 COSM3691916 c.9300C>T p.V3100V Substitution - coding silent 17:80389253-80389253 + TCGA-AZ-6598-01 COSM1387114 c.8420T>C p.V2807A Substitution - Missense 17:80383807-80383807 + TCGA-CM-6162-01 COSM1387090 c.2247C>T p.T749T Substitution - coding silent 17:80346363-80346363 + TCGA-BR-8284-01 COSM4070510 c.9061G>A p.V3021M Substitution - Missense 17:80386811-80386811 + SH-0420 COSM5017691 c.6240C>T p.P2080P Substitution - coding silent 17:80368009-80368009 + 8013946 COSM258577 c.7877C>T p.T2626M Substitution - Missense 17:80380848-80380848 + TCGA-24-1603-01 COSM69007 c.3173delG p.N1059fs*32 Deletion - Frameshift 17:80347289-80347289 + PD4094a COSM164061 c.1560G>A p.K520K Substitution - coding silent 17:80345676-80345676 + Pat_45_B COSM5853734 c.7489G>A p.D2497N Substitution - Missense 17:80376385-80376385 + 107129 COSM95199 c.2110G>C p.D704H Substitution - Missense 17:80346226-80346226 + HT115 COSM2803984 c.8908G>A p.A2970T Substitution - Missense 17:80386399-80386399 + CHC1207T COSM4800183 c.1416T>C p.N472N Substitution - coding silent 17:80345532-80345532 + TCGA-CD-5801-01 COSM4070454 c.4372A>T p.I1458F Substitution - Missense 17:80350365-80350365 + TCGA-J9-A52C-01 COSM1522832 c.3053G>A p.R1018H Substitution - Missense 17:80347169-80347169 + CSCC-55-T COSM4564250 c.5070_5071GG>AA p.G1691S Substitution - Missense 17:80354565-80354566 + RC-13 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + MPCC_0032_Pa_C COSM3378388 c.4998A>G p.Q1666Q Substitution - coding silent 17:80354493-80354493 + TCGA-BS-A0UV-01 COSM985653 c.3787G>A p.E1263K Substitution - Missense 17:80347903-80347903 + P134 COSM5010134 c.7011G>A p.K2337K Substitution - coding silent 17:80373015-80373015 + 2492710 COSM5717939 c.972G>A p.V324V Substitution - coding silent 17:80345088-80345088 + TCGA-23-1031-01 COSM72459 c.1702A>C p.I568L Substitution - Missense 17:80345818-80345818 + I2L-P19Ta-Tumor-Organoid COSM1387100 c.5344G>A p.V1782I Substitution - Missense 17:80360131-80360131 + OSCC-GB_01370111 COSM5955679 c.7765-9T>C p.? Unknown 17:80379611-80379611 + TCGA-AA-3672-01 COSM267344 c.6337C>T p.P2113S Substitution - Missense 17:80368106-80368106 + TCGA-IR-A3LA-01 COSM4845281 c.2107G>A p.E703K Substitution - Missense 17:80346223-80346223 + TCGA-A8-A09Z-01 COSM3820932 c.6999G>A p.L2333L Substitution - coding silent 17:80373003-80373003 + TCGA-29-1770-01 COSM1324741 c.5197T>A p.W1733R Substitution - Missense 17:80358403-80358403 + TCGA-BC-A10T-01 COSM4922930 c.4997A>G p.Q1666R Substitution - Missense 17:80354492-80354492 + ESCC_87 COSM5636703 c.4306C>A p.R1436R Substitution - coding silent 17:80349905-80349905 + TCGA-B5-A11E-01 COSM985708 c.9392A>G p.D3131G Substitution - Missense 17:80389345-80389345 + SNUH_G16_S1 COSM3680610 c.6035G>T p.S2012I Substitution - Missense 17:80364498-80364498 + TCGA-BR-6452-01 COSM4070448 c.3631G>A p.V1211I Substitution - Missense 17:80347747-80347747 + TCGA-EM-A4FM-01 COSM3370958 c.6486T>C p.I2162I Substitution - coding silent 17:80369613-80369613 + SH-5693 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + TCGA-A6-5661-01 COSM1303478 c.1495A>G p.K499E Substitution - Missense 17:80345611-80345611 + TCGA-HJ-7597-01 COSM4070516 c.9418T>C p.L3140L Substitution - coding silent 17:80389831-80389831 + P140 COSM2803704 c.2057G>A p.R686H Substitution - Missense 17:80346173-80346173 + J87_T COSM3958903 c.401C>G p.S134* Substitution - Nonsense 17:80343324-80343324 + CHC451T COSM4957369 c.2373C>A p.S791R Substitution - Missense 17:80346489-80346489 + C709 COSM4443915 c.8885G>A p.R2962H Substitution - Missense 17:80386376-80386376 + T3094 COSM4722133 c.8302A>C p.T2768P Substitution - Missense 17:80383689-80383689 + ESCC_129 COSM5641817 c.6524G>C p.R2175P Substitution - Missense 17:80369651-80369651 + TCGA-EI-6917-01 COSM3421999 c.4320G>A p.T1440T Substitution - coding silent 17:80350313-80350313 + YUKRIN COSM1710883 c.9650_9651CC>TT p.P3217L Substitution - Missense 17:80390157-80390158 + SH-1679 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + CSCC-38-T COSM4518613 c.1385_1386CC>TT p.P462L Substitution - Missense 17:80345501-80345502 + 59T COSM5575857 c.5477C>T p.A1826V Substitution - Missense 17:80361791-80361791 + TCGA-BR-4361-01 COSM4070482 c.6885G>A p.S2295S Substitution - coding silent 17:80372649-80372649 + P100 COSM3523415 c.8568C>A p.F2856L Substitution - Missense 17:80385065-80385065 + RC-9 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + TCGA-KK-A59V-01 COSM4878963 c.1529G>A p.R510Q Substitution - Missense 17:80345645-80345645 + TCGA-DI-A1NN-01 COSM985647 c.2772C>T p.D924D Substitution - coding silent 17:80346888-80346888 + P46 COSM5008395 c.6066C>T p.T2022T Substitution - coding silent 17:80364529-80364529 + TCGA-FS-A1ZA-06 COSM3523413 c.7564C>T p.H2522Y Substitution - Missense 17:80376460-80376460 + C086 COSM5519524 c.2270C>T p.S757L Substitution - Missense 17:80346386-80346386 + TCGA-AA-3510-01 COSM1387106 c.7185C>A p.G2395G Substitution - coding silent 17:80374481-80374481 + PTC-6C COSM4130773 c.5196C>G p.P1732P Substitution - coding silent 17:80358402-80358402 + 61 COSM5741186 c.6800A>T p.E2267V Substitution - Missense 17:80372564-80372564 + KPOPBR-17-T COSM5964652 c.1766C>G p.S589C Substitution - Missense 17:80345882-80345882 + TCGA-BR-8081-01 COSM4070478 c.6730T>C p.Y2244H Substitution - Missense 17:80371959-80371959 + I2L-P19Ta-Tumor-Biopsy COSM2803950 c.7740C>T p.N2580N Substitution - coding silent 17:80377772-80377772 + ESCC_55 COSM4555964 c.963G>A p.K321K Substitution - coding silent 17:80345079-80345079 + CRC-02T COSM5454625 c.2146C>T p.R716C Substitution - Missense 17:80346262-80346262 + CSCC-6-T COSM4512387 c.3230C>T p.P1077L Substitution - Missense 17:80347346-80347346 + 587238 COSM985625 c.703G>A p.E235K Substitution - Missense 17:80344819-80344819 + HDC54 COSM4636350 c.2502G>A p.L834L Substitution - coding silent 17:80346618-80346618 + CSCC-16-T COSM4503215 c.568C>G p.R190G Substitution - Missense 17:80344684-80344684 + 112313 COSM95659 c.304C>T p.Q102* Substitution - Nonsense 17:80343227-80343227 + J74_T COSM3958910 c.6970G>C p.E2324Q Substitution - Missense 17:80372734-80372734 + TCGA-EI-6507-01 COSM1564147 c.6125G>T p.G2042V Substitution - Missense 17:80367782-80367782 + SH-0348 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-A8-A08G-01 COSM437739 c.2805G>A p.P935P Substitution - coding silent 17:80346921-80346921 + TCGA-60-2698-01 COSM708707 c.8871C>T p.V2957V Substitution - coding silent 17:80386362-80386362 + HCC107 COSM1610950 c.4621G>A p.A1541T Substitution - Missense 17:80353038-80353038 + PTC_221 COSM5960203 c.7304delC p.Q2437fs*10 Deletion - Frameshift 17:80375770-80375770 + SH-9771 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + SH-1679 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + YUKAT COSM5387588 c.3004C>T p.Q1002* Substitution - Nonsense 17:80347120-80347120 + PR-04-194 COSM247073 c.2687G>A p.R896Q Substitution - Missense 17:80346803-80346803 + TCGA-HR-A2OH-01 COSM2803618 c.223G>A p.V75M Substitution - Missense 17:80343146-80343146 + BK0027 COSM4186661 c.6199A>G p.I2067V Substitution - Missense 17:80367968-80367968 + TCGA-E2-A1LB-01 COSM1480143 c.728A>G p.Y243C Substitution - Missense 17:80344844-80344844 + TCGA-BH-A18G-01 COSM3820930 c.5197T>C p.W1733R Substitution - Missense 17:80358403-80358403 + TCGA-24-1604-01 COSM78425 c.9275G>A p.S3092N Substitution - Missense 17:80389228-80389228 + TCGA-BR-4280-01 COSM4070446 c.3612C>T p.L1204L Substitution - coding silent 17:80347728-80347728 + HCC2998 COSM2803986 c.8946C>T p.S2982S Substitution - coding silent 17:80386696-80386696 + DN14041 COSM5960929 c.8779G>C p.D2927H Substitution - Missense 17:80386270-80386270 + TCGA-EI-6917-01 COSM3422001 c.7435G>A p.E2479K Substitution - Missense 17:80376331-80376331 + XHDG17 COSM4768710 c.9216A>G p.A3072A Substitution - coding silent 17:80388686-80388686 + 2492701 COSM5715877 c.5941C>T p.L1981L Substitution - coding silent 17:80363762-80363762 + cSCCP4 COSM139082 c.7960C>T p.L2654F Substitution - Missense 17:80380931-80380931 + HCC135T COSM5822995 c.4461C>G p.V1487V Substitution - coding silent 17:80351742-80351742 + RC-18 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + RC-T COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + CSCC-44-T COSM4524178 c.6804G>A p.L2268L Substitution - coding silent 17:80372568-80372568 + SA224 COSM212539 c.8479C>G p.H2827D Substitution - Missense 17:80383866-80383866 + TCGA-BR-8078-01 COSM4070442 c.2909G>A p.G970D Substitution - Missense 17:80347025-80347025 + TCGA-D5-6930-01 COSM1387094 c.4374C>T p.I1458I Substitution - coding silent 17:80350367-80350367 + YUZINO COSM1686754 c.4308-1G>A p.? Unknown 17:80350300-80350300 + TCGA-AX-A05Z-01 COSM985629 c.1000G>T p.D334Y Substitution - Missense 17:80345116-80345116 + TCGA-60-2711-01 COSM708705 c.9425G>C p.R3142T Substitution - Missense 17:80389838-80389838 + TCGA-33-4566-01 COSM708724 c.3606G>A p.V1202V Substitution - coding silent 17:80347722-80347722 + CHC917T COSM3668078 c.8230A>G p.K2744E Substitution - Missense 17:80383011-80383011 + LS174T COSM2803850 c.5934C>T p.S1978S Substitution - coding silent 17:80363755-80363755 + SH-7282 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-DU-7302-01 COSM3970427 c.6751C>A p.L2251M Substitution - Missense 17:80371980-80371980 + CSCC-2-T COSM4559518 c.2302G>T p.A768S Substitution - Missense 17:80346418-80346418 + SH-7329 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + Patient_1 COSM5414174 c.6097C>T p.R2033* Substitution - Nonsense 17:80367754-80367754 + SH-5693 COSM5020401 c.7242G>A p.V2414V Substitution - coding silent 17:80374538-80374538 + RK012_C01 COSM1630473 c.6705C>A p.F2235L Substitution - Missense 17:80371934-80371934 + LUAD-RT-S01477 COSM377520 c.5298C>T p.I1766I Substitution - coding silent 17:80360085-80360085 + BCB301T COSM2803852 c.5935G>A p.G1979R Substitution - Missense 17:80363756-80363756 + LS180 COSM2803850 c.5934C>T p.S1978S Substitution - coding silent 17:80363755-80363755 + TCGA-BR-6452-01 COSM4070450 c.4022T>C p.V1341A Substitution - Missense 17:80348138-80348138 + TCGA-BF-A1Q0-01 COSM3523406 c.5691T>C p.R1897R Substitution - coding silent 17:80363218-80363218 + TCGA-06-6390 COSM2153460 c.7397C>A p.T2466K Substitution - Missense 17:80375863-80375863 + DLBCL-PatientK COSM220698 c.6857G>A p.R2286Q Substitution - Missense 17:80372621-80372621 + TCGA-BS-A0UJ-01 COSM985641 c.2433G>T p.L811L Substitution - coding silent 17:80346549-80346549 + TCGA-ER-A193-06 COSM3523378 c.600C>T p.F200F Substitution - coding silent 17:80344716-80344716 + TCGA-CG-5726-01 COSM4070494 c.7756G>A p.V2586M Substitution - Missense 17:80377788-80377788 + TCGA-A2-A0CW-01 COSM437748 c.8884C>T p.R2962C Substitution - Missense 17:80386375-80386375 + TCGA-06-6390 COSM2153448 c.7392delC p.T2466fs*8 Deletion - Frameshift 17:80375858-80375858 + T3090 COSM4722103 c.2959G>A p.A987T Substitution - Missense 17:80347075-80347075 + T40 COSM5343049 c.7113C>T p.P2371P Substitution - coding silent 17:80373117-80373117 + Br27P COSM40240 c.539G>A p.G180E Substitution - Missense 17:80288092-80288092 + B89-4 COSM1750389 c.685C>G p.L229V Substitution - Missense 17:80344801-80344801 + TCGA-FG-6692-01 COSM3970429 c.7945C>T p.P2649S Substitution - Missense 17:80380916-80380916 + 8069192 COSM4408256 c.5559G>A p.T1853T Substitution - coding silent 17:80361873-80361873 + HCT8 COSM4623693 c.100G>T p.A34S Substitution - Missense 17:80340248-80340248 + 585223 COSM323088 c.8618A>T p.N2873I Substitution - Missense 17:80385115-80385115 + TCGA-BR-6852-01 COSM4070440 c.2706G>A p.Q902Q Substitution - coding silent 17:80346822-80346822 + 18195 COSM1303480 c.2219C>G p.S740C Substitution - Missense 17:80346335-80346335 + TCGA-EE-A3J5-06 COSM3523409 c.6832C>T p.L2278F Substitution - Missense 17:80372596-80372596 + TCGA-FW-A3R5-06 COSM3890636 c.3936C>T p.P1312P Substitution - coding silent 17:80348052-80348052 + Mx27 COSM50446 c.8620G>A p.V2874I Substitution - Missense 17:80385117-80385117 + RC-19 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + TCGA-DS-A0VM-01 COSM460177 c.5122C>T p.L1708L Substitution - coding silent 17:80358328-80358328 + SH-9248 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + TCGA-BR-8680-01 COSM4070444 c.3157G>T p.A1053S Substitution - Missense 17:80347273-80347273 + TCGA-EE-A3J5-06 COSM3523398 c.4305C>T p.V1435V Substitution - coding silent 17:80349904-80349904 + TCGA-BH-A203-01 COSM1480146 c.8628A>G p.Q2876Q Substitution - coding silent 17:80385125-80385125 + 3030_T COSM3958906 c.4235G>T p.G1412V Substitution - Missense 17:80349834-80349834 + CHC051T COSM3668076 c.177T>C p.V59V Substitution - coding silent 17:80340325-80340325 + P85 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-AA-A010-01 COSM284631 c.1309G>A p.D437N Substitution - Missense 17:80345425-80345425 + NCI-H226 COSM1680130 c.2354C>T p.P785L Substitution - Missense 17:80346470-80346470 + TCGA-46-3765-01 COSM708709 c.8070G>A p.Q2690Q Substitution - coding silent 17:80381600-80381600 + ccRCC-85 COSM1659976 c.7609C>A p.P2537T Substitution - Missense 17:80376505-80376505 + SNUH_G10_S1 COSM4000337 c.1220G>C p.S407T Substitution - Missense 17:80345336-80345336 + T3094 COSM4722097 c.722A>G p.Y241C Substitution - Missense 17:80344838-80344838 + SH-102782 COSM5008484 c.6207G>A p.P2069P Substitution - coding silent 17:80367976-80367976 + SH-9248 COSM5019331 c.7066C>A p.L2356I Substitution - Missense 17:80373070-80373070 + TCGA-BG-A0RY-01 COSM985649 c.3348C>T p.L1116L Substitution - coding silent 17:80347464-80347464 + pfg019T COSM1640892 c.6494T>C p.L2165P Substitution - Missense 17:80369621-80369621 + 2492708 COSM5717939 c.972G>A p.V324V Substitution - coding silent 17:80345088-80345088 + SNU-C4 COSM4652938 c.4129C>A p.L1377M Substitution - Missense 17:80348245-80348245 + YUKSI COSM5387590 c.4520G>A p.G1507E Substitution - Missense 17:80351801-80351801 + TCGA-AP-A0LM-01 COSM985710 c.9425G>A p.R3142K Substitution - Missense 17:80389838-80389838 + BD173T COSM5500203 c.3232G>A p.E1078K Substitution - Missense 17:80347348-80347348 + T1743 COSM985621 c.290G>A p.R97Q Substitution - Missense 17:80343213-80343213 + T578 COSM4722119 c.5984G>A p.R1995Q Substitution - Missense 17:80364447-80364447 + PTC_285 COSM5959092 c.4597delC p.H1533fs*77 Deletion - Frameshift 17:80353014-80353014 + 112313 COSM95202 c.9695G>A p.R3232K Substitution - Missense 17:80393350-80393350 + MM1S COSM1235855 c.1491T>G p.C497W Substitution - Missense 17:80345607-80345607 + RK308_C01 COSM3742499 c.9490C>A p.L3164M Substitution - Missense 17:80389903-80389903 + TCGA-BC-A3KF-01 COSM4927945 c.5605A>G p.R1869G Substitution - Missense 17:80363132-80363132 + SH-0348 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + C086 COSM5538295 c.6183C>T p.T2061T Substitution - coding silent 17:80367840-80367840 + RK111_C01 COSM3742497 c.6706A>G p.I2236V Substitution - Missense 17:80371935-80371935 + 43 COSM1235857 c.7414G>A p.A2472T Substitution - Missense 17:80376310-80376310 + TCGA-AP-A051-01 COSM985639 c.2406G>T p.Q802H Substitution - Missense 17:80346522-80346522 + TCGA-D3-A3MR-06 COSM3523411 c.7428C>T p.F2476F Substitution - coding silent 17:80376324-80376324 + TCGA-BH-A18G-01 COSM3820918 c.2508T>C p.I836I Substitution - coding silent 17:80346624-80346624 + TCGA-DS-A0VM-01 COSM460175 c.8136C>T p.I2712I Substitution - coding silent 17:80381666-80381666 + SH-7329 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + SH-7032 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + Au2 COSM5600372 c.2845C>T p.H949Y Substitution - Missense 17:80346961-80346961 + TCGA-BR-8687-01 COSM4070500 c.8308C>T p.P2770S Substitution - Missense 17:80383695-80383695 + TCGA-EP-A2KC-01 COSM4913812 c.5062C>A p.Q1688K Substitution - Missense 17:80354557-80354557 + 721T COSM4382724 c.109G>A p.A37T Substitution - Missense 17:80340257-80340257 + 7T COSM5575682 c.5470T>C p.F1824L Substitution - Missense 17:80361784-80361784 + 1517_CLM COSM5755169 c.2300A>G p.H767R Substitution - Missense 17:80346416-80346416 + 526LT COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + ESO-0103 COSM1264375 c.2864_2869delTGGGCA p.G956_I957delGI Deletion - In frame 17:80346980-80346985 + 1N40-VS-1T40 COSM4975325 c.3687C>T p.V1229V Substitution - coding silent 17:80347803-80347803 + PTC-7C COSM4130777 c.7187A>G p.Q2396R Substitution - Missense 17:80374483-80374483 + ESCC_81 COSM5635894 c.4554C>G p.L1518L Substitution - coding silent 17:80352971-80352971 + LUAD-F00121 COSM365707 c.4862G>C p.R1621T Substitution - Missense 17:80354083-80354083 + TCGA-AP-A051-01 COSM985651 c.3378G>T p.Q1126H Substitution - Missense 17:80347494-80347494 + T2944 COSM4722109 c.4173C>T p.I1391I Substitution - coding silent 17:80349772-80349772 + sysucc-880T COSM5462729 c.1192A>G p.N398D Substitution - Missense 17:80345308-80345308 + 8015299 COSM3773334 c.320G>A p.R107Q Substitution - Missense 17:80343243-80343243 + LC_C15 COSM284629 c.238G>A p.D80N Substitution - Missense 17:80343161-80343161 + 234 COSM3731217 c.8833C>T p.R2945C Substitution - Missense 17:80386324-80386324 + CHEWS031 COSM4580227 c.8082G>A p.L2694L Substitution - coding silent 17:80381612-80381612 + GC8_T COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + ESCC_BICR_036T COSM5432114 c.286A>T p.I96F Substitution - Missense 17:80343209-80343209 + TCGA-AA-3833-01 COSM271505 c.3562G>A p.A1188T Substitution - Missense 17:80347678-80347678 + 120T COSM5575955 c.9277G>C p.D3093H Substitution - Missense 17:80389230-80389230 + TCGA-BP-4965-01 COSM1494081 c.7523G>A p.S2508N Substitution - Missense 17:80376419-80376419 + TCGA-A6-6780-01 COSM1387119 c.9284delG p.C3095fs*7 Deletion - Frameshift 17:80389237-80389237 + Pat_44_B COSM5853736 c.7811C>T p.P2604L Substitution - Missense 17:80379666-80379666 + S06-19548-TP COSM4991107 c.711C>T p.F237F Substitution - coding silent 17:80344827-80344827 + OSCC-GB_00560111 COSM4883739 c.3025G>T p.A1009S Substitution - Missense 17:80347141-80347141 + BD143T COSM5517024 c.5004G>C p.E1668D Substitution - Missense 17:80354499-80354499 + ESO-859 COSM1240079 c.2184C>T p.S728S Substitution - coding silent 17:80346300-80346300 + TCGA-D9-A3Z1-06 COSM3523382 c.2034C>T p.I678I Substitution - coding silent 17:80346150-80346150 + MOLT-4 COSM1680132 c.8839C>T p.R2947W Substitution - Missense 17:80386330-80386330 + T3152 COSM4722129 c.7842C>T p.D2614D Substitution - coding silent 17:80379697-80379697 + 587284 COSM1223975 c.3797C>T p.A1266V Substitution - Missense 17:80347913-80347913 + 413 COSM4431167 c.6029delC p.E2011fs*11 Deletion - Frameshift 17:80364492-80364492 + SH-1439 COSM3755994 c.7026G>A p.R2342R Substitution - coding silent 17:80373030-80373030 + 587376 COSM1223979 c.9503A>G p.K3168R Substitution - Missense 17:80389916-80389916 + TCGA-AX-A0J1-01 COSM985617 c.67G>A p.V23I Substitution - Missense 17:80340215-80340215 + TCGA-D3-A51E-06 COSM3523400 c.4482C>T p.S1494S Substitution - coding silent 17:80351763-80351763 + pfg019T COSM1640887 c.4054G>A p.A1352T Substitution - Missense 17:80348170-80348170 + TCGA-BH-A0B9-01 COSM437741 c.3316G>C p.E1106Q Substitution - Missense 17:80347432-80347432 + TCGA-EE-A29S-06 COSM3523384 c.2429C>T p.P810L Substitution - Missense 17:80346545-80346545 + TCGA-D1-A16X-01 COSM176141 c.5880G>T p.K1960N Substitution - Missense 17:80363701-80363701 + TCGA-HU-8602-01 COSM4070486 c.7089G>C p.E2363D Substitution - Missense 17:80373093-80373093 + SH-5693 COSM5020437 c.9770A>C p.E3257A Substitution - Missense 17:80393425-80393425 + TCGA-AG-3893-01 COSM258577 c.7877C>T p.T2626M Substitution - Missense 17:80380848-80380848 + TCGA-D9-A6EA-06 COSM4398388 c.2682C>T p.T894T Substitution - coding silent 17:80346798-80346798 + TCGA-A2-A0T5-01 COSM3820928 c.4487T>G p.V1496G Substitution - Missense 17:80351768-80351768 + PTC-28C COSM4130775 c.7078C>G p.R2360G Substitution - Missense 17:80373082-80373082 + 473 COSM4438132 c.3796G>A p.A1266T Substitution - Missense 17:80347912-80347912 + LUAD-NYU947 COSM377052 c.9703C>G p.L3235V Substitution - Missense 17:80393358-80393358 + 8035726 COSM3388276 c.3561C>T p.D1187D Substitution - coding silent 17:80347677-80347677 + CSCC-11-T COSM4505220 c.1098C>T p.S366S Substitution - coding silent 17:80345214-80345214 + TCGA-18-3414-01 COSM708728 c.1801C>T p.R601W Substitution - Missense 17:80345917-80345917 + SH-2871 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-B5-A0JY-01 COSM985635 c.2355G>A p.P785P Substitution - coding silent 17:80346471-80346471 + TCGA-EE-A2ME-06 COSM2803838 c.5689C>T p.R1897C Substitution - Missense 17:80363216-80363216 + P151 COSM5008186 c.6991T>C p.C2331R Substitution - Missense 17:80372995-80372995 + 99164 COSM96191 c.5829G>A p.L1943L Substitution - coding silent 17:80363650-80363650 + TCGA-MY-A5BE-01 COSM4855858 c.4620C>T p.F1540F Substitution - coding silent 17:80353037-80353037 + 585203 COSM326381 c.4232C>A p.T1411K Substitution - Missense 17:80349831-80349831 + SH-6055 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + ESCC_BICR_044T COSM5434416 c.5618C>T p.A1873V Substitution - Missense 17:80363145-80363145 + TCGA-13-1491-01 COSM76267 c.7537G>A p.D2513N Substitution - Missense 17:80376433-80376433 + TCGA-AM-5820-01 COSM3755988 c.5496G>A p.P1832P Substitution - coding silent 17:80361810-80361810 + TCGA-B5-A11E-01 COSM985676 c.6661G>T p.D2221Y Substitution - Missense 17:80371890-80371890 + TCGA-AP-A0LM-01 COSM985678 c.7122G>A p.P2374P Substitution - coding silent 17:80373126-80373126 + AOCS-086-3-2 COSM3421997 c.1985C>T p.A662V Substitution - Missense 17:80346101-80346101 + TCGA-B7-5816-01 COSM4070452 c.4179T>G p.T1393T Substitution - coding silent 17:80349778-80349778 + T276 COSM2803614 c.71delC p.Q26fs*50 Deletion - Frameshift 17:80340219-80340219 + SH-9771 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-EA-A3HT-01 COSM4843356 c.3546C>T p.Y1182Y Substitution - coding silent 17:80347662-80347662 + CHC451T COSM4957369 c.2373C>A p.S791R Substitution - Missense 17:80346489-80346489 + HCC169 COSM3717749 c.4348T>G p.F1450V Substitution - Missense 17:80350341-80350341 + P60 COSM5008484 c.6207G>A p.P2069P Substitution - coding silent 17:80367976-80367976 + RC-12 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + PD8984a COSM5801059 c.8430_8432delCTC p.S2811delS Deletion - In frame 17:80383817-80383819 + SH-4435 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + RK308_C01 COSM1223975 c.3797C>T p.A1266V Substitution - Missense 17:80347913-80347913 + pfg122T COSM4747517 c.2660delC p.P888fs*29 Deletion - Frameshift 17:80346776-80346776 + 2492702 COSM5600372 c.2845C>T p.H949Y Substitution - Missense 17:80346961-80346961 + TCGA-A6-6653-01 COSM1387104 c.6927C>T p.L2309L Substitution - coding silent 17:80372691-80372691 + HCC157T COSM3717751 c.6484A>T p.I2162F Substitution - Missense 17:80369611-80369611 + T3094 COSM4722127 c.7733G>T p.C2578F Substitution - Missense 17:80377765-80377765 + TCGA-AA-3713-01 COSM985688 c.8159G>A p.R2720H Substitution - Missense 17:80381689-80381689 + S09-2518-TP COSM4991109 c.942C>T p.G314G Substitution - coding silent 17:80345058-80345058 + 2492700 COSM5715877 c.5941C>T p.L1981L Substitution - coding silent 17:80363762-80363762 + TCGA-B5-A11E-01 COSM985698 c.8754G>A p.T2918T Substitution - coding silent 17:80385617-80385617 + 61 COSM5741182 c.5459C>A p.P1820H Substitution - Missense 17:80361773-80361773 + TCGA-EE-A29V-06 COSM3523390 c.3837C>T p.F1279F Substitution - coding silent 17:80347953-80347953 + GC8_T COSM148364 c.261C>T p.N87N Substitution - coding silent 17:80343184-80343184 + 2293782 COSM4608689 c.195G>T p.E65D Substitution - Missense 17:80340343-80340343 + SH-1439 COSM3755988 c.5496G>A p.P1832P Substitution - coding silent 17:80361810-80361810 + 2492702 COSM5715877 c.5941C>T p.L1981L Substitution - coding silent 17:80363762-80363762 + TCGA-J9-A52C-01 COSM4877503 c.9493C>T p.R3165W Substitution - Missense 17:80389906-80389906 + PTC-7C COSM4130779 c.8311A>C p.T2771P Substitution - Missense 17:80383698-80383698 + TCGA-J4-A67O-01 COSM3783117 c.4960G>A p.V1654I Substitution - Missense 17:80354455-80354455 + TCGA-AM-5820-01 COSM985631 c.2049C>T p.N683N Substitution - coding silent 17:80346165-80346165 + LUAD-S01315 COSM344615 c.7216G>A p.E2406K Substitution - Missense 17:80374512-80374512 + TCGA-MY-A5BD-01 COSM4855579 c.8766C>A p.I2922I Substitution - coding silent 17:80386257-80386257 + PR-1701 COSM220051 c.3018G>A p.A1006A Substitution - coding silent 17:80347134-80347134 + SH-4435 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + 6 COSM4166703 c.353C>A p.A118E Substitution - Missense 17:80343276-80343276 + CHC051T COSM3668076 c.177T>C p.V59V Substitution - coding silent 17:80340325-80340325 + CSCC-60-T COSM4555964 c.963G>A p.K321K Substitution - coding silent 17:80345079-80345079 + 6115121 COSM5571128 c.2755G>A p.V919M Substitution - Missense 17:80346871-80346871 + TCGA-AX-A05S-01 COSM985665 c.5451G>A p.Q1817Q Substitution - coding silent 17:80361765-80361765 + OV207 COSM252785 c.7168C>T p.R2390W Substitution - Missense 17:80374464-80374464 + 112182 COSM94579 c.784C>G p.Q262E Substitution - Missense 17:80288337-80288337 + TCGA-BR-6452-01 COSM4070508 c.8983A>C p.S2995R Substitution - Missense 17:80386733-80386733 + TCGA-06-0646-01 COSM3403353 c.8106G>A p.K2702K Substitution - coding silent 17:80381636-80381636 + T3024 COSM4722101 c.2839G>A p.A947T Substitution - Missense 17:80346955-80346955 + T3498 COSM4722099 c.878G>A p.R293Q Substitution - Missense 17:80344994-80344994 + BD124T COSM5493653 c.4425delC p.N1476fs*53 Deletion - Frameshift 17:80351706-80351706 + TCGA-HU-8602-01 COSM4070480 c.6876C>T p.N2292N Substitution - coding silent 17:80372640-80372640 + TCGA-AA-3696-01 COSM293490 c.66C>T p.F22F Substitution - coding silent 17:80340214-80340214 + AA1830 COSM4168897 c.3242G>A p.C1081Y Substitution - Missense 17:80347358-80347358 + TCGA-J9-A52C-01 COSM4877362 c.8342G>A p.R2781H Substitution - Missense 17:80383729-80383729 + C058 COSM4975325 c.3687C>T p.V1229V Substitution - coding silent 17:80347803-80347803 + SH-8559 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + SH-1641 COSM148368 c.4689G>A p.E1563E Substitution - coding silent 17:80353558-80353558 + GC8_T COSM148358 c.962T>C p.M321T Substitution - Missense 17:80289687-80289687 + TCGA-61-2095-01 COSM116235 c.5848C>A p.P1950T Substitution - Missense 17:80363669-80363669 + 631060 COSM323090 c.4060G>T p.E1354* Substitution - Nonsense 17:80348176-80348176 + TCGA-CG-5721-01 COSM4070460 c.5654C>A p.P1885Q Substitution - Missense 17:80363181-80363181 + Pat_14_B COSM5853732 c.4579G>A p.D1527N Substitution - Missense 17:80352996-80352996 + TCGA-13-1481-01 COSM76266 c.2223G>T p.K741N Substitution - Missense 17:80346339-80346339 + Pat_32_B COSM5853730 c.4307G>A p.R1436Q Substitution - Missense 17:80349906-80349906 + TCGA-BR-6452-01 COSM4070474 c.6413G>A p.C2138Y Substitution - Missense 17:80369540-80369540 + JJN3 COSM1235857 c.7414G>A p.A2472T Substitution - Missense 17:80376310-80376310 + OSCC-GB_00410111 COSM3712593 c.262G>A p.V88M Substitution - Missense 17:80343185-80343185 + TCGA-BR-6452-01 COSM4070422 c.92C>T p.A31V Substitution - Missense 17:80340240-80340240 + ESCC_55 COSM5631826 c.657G>A p.L219L Substitution - coding silent 17:80344773-80344773 + TCGA-A8-A09G-01 COSM437737 c.630delG p.V211fs*1 Deletion - Frameshift 17:80344746-80344746 + TCGA-CG-4305-01 COSM4070430 c.568C>T p.R190C Substitution - Missense 17:80344684-80344684 + TARGET-30-PATBMM COSM1287663 c.7335G>T p.L2445L Substitution - coding silent 17:80375801-80375801 + P129 COSM5008484 c.6207G>A p.P2069P Substitution - coding silent 17:80367976-80367976 + TCGA-A5-A0VP-01 COSM985633 c.2058C>T p.R686R Substitution - coding silent 17:80346174-80346174 + YUVAIL COSM1710879 c.5497C>T p.Q1833* Substitution - Nonsense 17:80361811-80361811 + T3064 COSM4722105 c.3377A>G p.Q1126R Substitution - Missense 17:80347493-80347493 + TCGA-AA-3821-01 COSM294778 c.3630C>T p.R1210R Substitution - coding silent 17:80347746-80347746 + ESCC-015T COSM3937645 c.8436G>C p.K2812N Substitution - Missense 17:80383823-80383823 + RC-1 COSM328524 c.3552C>A p.S1184R Substitution - Missense 17:80347668-80347668 + 2293782 COSM4608691 c.9275G>T p.S3092I Substitution - Missense 17:80389228-80389228 + TCGA-HP-A5N0-01 COSM4942263 c.1780A>G p.I594V Substitution - Missense 17:80345896-80345896 + TCGA-AN-A046-01 COSM3820924 c.3673G>T p.E1225* Substitution - Nonsense 17:80347789-80347789 + TCGA-AX-A05S-01 COSM985688 c.8159G>A p.R2720H Substitution - Missense 17:80381689-80381689 + 103595 COSM95198 c.703G>C p.E235Q Substitution - Missense 17:80344819-80344819 + pfg143T COSM1680130 c.2354C>T p.P785L Substitution - Missense 17:80346470-80346470 + TCGA-EE-A182-06 COSM3523417 c.9183A>G p.E3061E Substitution - coding silent 17:80388653-80388653 + T3446 COSM4722125 c.7544C>T p.T2515M Substitution - Missense 17:80376440-80376440 + cSCCP6 COSM137126 c.3190G>A p.D1064N Substitution - Missense 17:80347306-80347306 + TCGA-AG-A002-01 COSM263375 c.289C>T p.R97* Substitution - Nonsense 17:80343212-80343212 + PR-09-2767 COSM247075 c.148G>C p.A50P Substitution - Missense 17:80340296-80340296 + TCGA-D3-A2JP-06 COSM3890632 c.1897C>T p.P633S Substitution - Missense 17:80346013-80346013 + SNUH_G76_S1 COSM4418208 c.8001G>A p.A2667A Substitution - coding silent 17:80380972-80380972 + TCGA-B5-A11H-01 COSM985645 c.2608C>T p.R870C Substitution - Missense 17:80346724-80346724 + 4_PRE-TREATMENT COSM1724255 c.3780C>T p.I1260I Substitution - coding silent 17:80347896-80347896 + S04-45633-TP COSM4991113 c.1898C>T p.P633L Substitution - Missense 17:80346014-80346014 + P46 COSM4000339 c.1464G>C p.P488P Substitution - coding silent 17:80345580-80345580 + ESCC-F41 COSM5047761 c.2944G>C p.E982Q Substitution - Missense 17:80347060-80347060 + TCGA-D1-A0ZO-01 COSM985690 c.8263G>A p.A2755T Substitution - Missense 17:80383044-80383044 + TCGA-EE-A29N-06 COSM3523402 c.4765G>A p.G1589R Substitution - Missense 17:80353634-80353634 + TCGA-AA-3663-01 COSM1387086 c.834C>T p.C278C Substitution - coding silent 17:80344950-80344950 + TCGA-AN-A046-01 COSM3820936 c.7764G>A p.E2588E Substitution - coding silent 17:80377796-80377796 + Region-22 COSM4991115 c.4409C>T p.S1470F Substitution - Missense 17:80351690-80351690 + DLD1 COSM4623693 c.100G>T p.A34S Substitution - Missense 17:80340248-80340248 + U2940 COSM5621713 c.7367A>C p.Y2456S Substitution - Missense 17:80375833-80375833 + 2492701 COSM5600372 c.2845C>T p.H949Y Substitution - Missense 17:80346961-80346961 + TCGA-CD-8536-01 COSM4070466 c.5998G>A p.A2000T Substitution - Missense 17:80364461-80364461 + CHC1185T COSM4803229 c.9738T>C p.I3246I Substitution - coding silent 17:80393393-80393393 + S09-2518-TP COSM4991111 c.1429C>T p.L477F Substitution - Missense 17:80345545-80345545 + MO_1012 COSM5546728 c.2840delC p.H949fs*19 Deletion - Frameshift 17:80346956-80346956 + SH-3776 COSM148366 c.1220G>A p.S407N Substitution - Missense 17:80345336-80345336 + TCGA-D9-A6EC-06 COSM4403824 c.8496A>C p.K2832N Substitution - Missense 17:80383883-80383883 + PTC_441 COSM1750389 c.685C>G p.L229V Substitution - Missense 17:80344801-80344801 + TCGA-04-1347-01 COSM76265 c.432C>G p.F144L Substitution - Missense 17:80343886-80343886 + TCGA-A8-A0A6-01 COSM3820922 c.3626A>C p.H1209P Substitution - Missense 17:80347742-80347742 + TCGA-AZ-4615-01 COSM3691914 c.13G>T p.G5W Substitution - Missense 17:80340161-80340161 + NOKSI COSM4595915 c.9040G>A p.V3014M Substitution - Missense 17:80386790-80386790 + TCGA-BR-4292-01 COSM4070420 c.26A>G p.H9R Substitution - Missense 17:80340174-80340174 + LIM2405 COSM4613461 c.1368delC p.Q458fs*62 Deletion - Frameshift 17:80345484-80345484 + TCGA-UB-A7MA-01 COSM284631 c.1309G>A p.D437N Substitution - Missense 17:80345425-80345425 + TCGA-DK-A2I2-01 COSM1303478 c.1495A>G p.K499E Substitution - Missense 17:80345611-80345611 + PD13753a COSM5770482 c.7047G>C p.R2349R Substitution - coding silent 17:80373051-80373051 + 2492703 COSM5715877 c.5941C>T p.L1981L Substitution - coding silent 17:80363762-80363762 + PD4199a COSM219668 c.8251G>T p.E2751* Substitution - Nonsense 17:80383032-80383032 + TCGA-BR-8487-01 COSM4070464 c.5809A>G p.M1937V Substitution - Missense 17:80363630-80363630 + T3094 COSM4722111 c.4519G>A p.G1507R Substitution - Missense 17:80351800-80351800 + TCGA-B5-A11E-01 COSM985686 c.8035A>G p.K2679E Substitution - Missense 17:80381565-80381565 + S03-09436-TP COSM4991117 c.6032A>G p.E2011G Substitution - Missense 17:80364495-80364495 + pfg143T COSM4757888 c.5968A>G p.R1990G Substitution - Missense 17:80363789-80363789 + BCM423T COSM4802609 c.5267A>G p.N1756S Substitution - Missense 17:80358473-80358473 + PD9595a COSM5776010 c.4778C>G p.S1593C Substitution - Missense 17:80353647-80353647 + TCGA-EI-6507-01 COSM1564151 c.2694C>T p.C898C Substitution - coding silent 17:80346810-80346810 + ESCC_121 COSM2803828 c.5427C>G p.P1809P Substitution - coding silent 17:80361741-80361741 + T3024 COSM4722131 c.7918G>A p.V2640M Substitution - Missense 17:80380889-80380889 + BN28T COSM1610952 c.7462A>G p.I2488V Substitution - Missense 17:80376358-80376358 + YUKAT COSM5387594 c.6403C>T p.R2135W Substitution - Missense 17:80369530-80369530 + DLBCL-PatientG COSM220365 c.6582T>A p.N2194K Substitution - Missense 17:80369805-80369805 + TCGA-EJ-A65B-01 COSM4393526 c.119A>G p.Y40C Substitution - Missense 17:80340267-80340267 + C658 COSM4443316 c.4327G>A p.A1443T Substitution - Missense 17:80350320-80350320 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.195549;Hs.195633;Hs.195634;Hs.195642 17q25.3 613768 Hs.743308;Hs.743309;Hs.743310 17q25.3 613768

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H852P c.2555A>C 17 78282871 STAD A G Missense p.E837G c.2510A>G 17 78282826 LUSC A T Missense p.I402F c.1204A>T 17 78264460 CM A T Missense p.Q239L c.716A>T 17 78262068 CM C A Missense p.R478S c.1432C>A 17 78265587 LUAD C A Missense p.S10Y c.29C>A 17 78237509 BLCA CC TT 3-UTRBlockSubstitution . c.3189+82_3189+83delinsTT 17 78293359 CM C G Missense p.A268G c.803C>G 17 78262155 GBM C G Missense p.H780D c.2338C>G 17 78280179 STAD C G Missense p.L432V c.1294C>G 17 78265449 HNSC C G Missense p.S536R c.1608C>G 17 78268655 COREAD C G Nonsense p.S1005* c.3014C>G 17 78293102 BLCA C T Missense p.A1032V c.3095C>T 17 78293183 CM C T Missense p.A908V c.2723C>T 17 78286879 STAD C T Missense p.H646Y c.1936C>T 17 78269537 LUSC C T Missense p.P65S c.193C>T 17 78247135 CM C T Missense p.P729S c.2185C>T 17 78272293 CM C T Missense p.P948L c.2843C>T 17 78291019 CM C T Missense p.R783C c.2347C>T 17 78280188 CM C T Missense p.S5L c.14C>T 17 78237494 BLCA C T Missense p.S871F c.2612C>T 17 78282928 UCEC C T Missense p.S972F c.2915C>T 17 78293003 CM C T Nonsense p.Q670* c.2008C>T 17 78269609 CM C T Nonsense p.Q86* c.256C>T 17 78247198 CM C T Synonymous p.F556F c.1668C>T 17 78268715 CM C T Synonymous p.F730F c.2190C>T 17 78272298 LUAD C T Synonymous p.I402I c.1206C>T 17 78264462 CM C T Synonymous p.L216L c.646C>T 17 78261998 CM C T Synonymous p.T423T c.1269C>T 17 78264525 BRCA G A Missense p.A530T c.1588G>A 17 78268635 STAD G A Missense p.D813N c.2437G>A 17 78280937 CM G A Missense p.E1062K c.3184G>A 17 78293272 LUAD G A Missense p.S618N c.1853G>A 17 78269454 LUAD G A Synonymous p.G525G c.1575G>A 17 78268622 LUSC G A Synonymous p.T1017T c.3051G>A 17 78293139 BLCA G C Missense p.D429H c.1285G>C 17 78265440 LUAD G C Missense p.W591C c.1773G>C 17 78269374 HNSC G C Synonymous p.P65P c.195G>C 17 78247137 CM G T Missense p.A694S c.2080G>T 17 78272188 LUAD G T Missense p.A705S c.2113G>T 17 78272221 CM G T Missense p.E779D c.2337G>T 17 78280178 LUAD G T Missense p.L840F c.2520G>T 17 78282836 STAD G T Missense p.Q1008H c.3024G>T 17 78293112 STAD G T Missense p.W576L c.1727G>T 17 78268774 CM G T Nonsense p.E837* c.2509G>T 17 78282825 LUSC G T Nonsense p.E866* c.2596G>T 17 78282912 GBM G T Synonymous p.L698L c.2094G>T 17 78272202 LUSC TAG - IntronicDeletion . c.2812-1189_2812-1187delAGT 17 78289798 CM T C IntronicSNV . c.2210+3741T>C 17 78276059 CLL T C Missense p.C998R c.2992T>C 17 78293080 LUAD TGCCCCACAGCCAAGCCCAGCAGAGT - Frameshift p.L133Rfs*20 c.398_423delTGCCCCACAGCCAAGCCCAGCAGAGT 17 78261750 CM T G SpliceDonorSNV . c.2427+2T>G 17 78280270 STAD