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 15532044 15532044 + Nonsense_Mutation SNP G G C TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr17:15532044G>C c.1580C>G c.(1579-1581)tCa>tGa p.S527* BLCA 17 15532172 15532172 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr17:15532172C>T c.1452G>A c.(1450-1452)gaG>gaA p.E484E BLCA 17 15532388 15532388 + Silent SNP G G A TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr17:15532388G>A c.1236C>T c.(1234-1236)ttC>ttT p.F412F BLCA 17 15532492 15532492 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr17:15532492C>T c.1132G>A c.(1132-1134)Gac>Aac p.D378N BLCA 17 15535915 15535915 + Missense_Mutation SNP G G A TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr17:15535915G>A c.923C>T c.(922-924)tCg>tTg p.S308L BLCA 17 15535971 15535971 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr17:15535971C>G c.867G>C c.(865-867)aaG>aaC p.K289N BLCA 17 15539571 15539571 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr17:15539571C>T c.628G>A c.(628-630)Gag>Aag p.E210K BRCA 17 15535029 15535029 + Splice_Site SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr17:15535029C>G c.e10-1 BRCA 17 15535965 15535965 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr17:15535965A>G c.873T>C c.(871-873)acT>acC p.T291T CESC 17 15534963 15534963 + Missense_Mutation SNP C C G TCGA-EK-A2R9-01A-11D-A18J-09 TCGA-EK-A2R9-10A-01D-A18J-09 g.chr17:15534963C>G c.1081G>C c.(1081-1083)Gag>Cag p.E361Q CESC 17 15535892 15535892 + Missense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr17:15535892C>T c.946G>A c.(946-948)Gaa>Aaa p.E316K CESC 17 15539374 15539374 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:15539374G>A c.825C>T c.(823-825)atC>atT p.I275I CESC 17 15554673 15554673 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:15554673G>C c.251C>G c.(250-252)aCc>aGc p.T84S COAD 17 15532481 15532481 + Silent SNP T T C TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr17:15532481T>C c.1143A>G c.(1141-1143)acA>acG p.T381T COAD 17 15534986 15534986 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:15534986C>T c.1058G>A c.(1057-1059)cGc>cAc p.R353H COAD 17 15535018 15535018 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:15535018G>A c.1026C>T c.(1024-1026)gaC>gaT p.D342D COAD 17 15535019 15535019 + Missense_Mutation SNP T T C TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr17:15535019T>C c.1025A>G c.(1024-1026)gAc>gGc p.D342G COAD 17 15535019 15535019 + Missense_Mutation SNP T T C TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr17:15535019T>C c.1025A>G c.(1024-1026)gAc>gGc p.D342G COAD 17 15535914 15535914 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:15535914C>T c.924G>A c.(922-924)tcG>tcA p.S308S COAD 17 15535915 15535915 + Missense_Mutation SNP G G A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr17:15535915G>A c.923C>T c.(922-924)tCg>tTg p.S308L COAD 17 15554556 15554556 + Missense_Mutation SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr17:15554556A>G c.368T>C c.(367-369)gTg>gCg p.V123A COAD 17 15554803 15554803 + Missense_Mutation SNP C C T TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr17:15554803C>T c.121G>A c.(121-123)Gaa>Aaa p.E41K COADREAD 17 15532481 15532481 + Silent SNP T T C TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr17:15532481T>C c.1143A>G c.(1141-1143)acA>acG p.T381T COADREAD 17 15534986 15534986 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:15534986C>T c.1058G>A c.(1057-1059)cGc>cAc p.R353H COADREAD 17 15535018 15535018 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:15535018G>A c.1026C>T c.(1024-1026)gaC>gaT p.D342D COADREAD 17 15535019 15535019 + Missense_Mutation SNP T T C TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr17:15535019T>C c.1025A>G c.(1024-1026)gAc>gGc p.D342G COADREAD 17 15535019 15535019 + Missense_Mutation SNP T T C TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr17:15535019T>C c.1025A>G c.(1024-1026)gAc>gGc p.D342G COADREAD 17 15535914 15535914 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:15535914C>T c.924G>A c.(922-924)tcG>tcA p.S308S COADREAD 17 15535915 15535915 + Missense_Mutation SNP G G A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr17:15535915G>A c.923C>T c.(922-924)tCg>tTg p.S308L COADREAD 17 15554556 15554556 + Missense_Mutation SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr17:15554556A>G c.368T>C c.(367-369)gTg>gCg p.V123A COADREAD 17 15554803 15554803 + Missense_Mutation SNP C C T TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr17:15554803C>T c.121G>A c.(121-123)Gaa>Aaa p.E41K DLBC 17 15532430 15532430 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:15532430G>A c.1194C>T c.(1192-1194)acC>acT p.T398T DLBC 17 15546132 15546133 + Splice_Site INS - - A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:15546132_15546133insA c.e7-2 GBMLGG 17 15532148 15532148 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:15532148G>A c.1476C>T c.(1474-1476)ttC>ttT p.F492F GBMLGG 17 15532344 15532344 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:15532344T>C c.1280A>G c.(1279-1281)cAc>cGc p.H427R GBMLGG 17 15532459 15532459 + Nonsense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 g.chr17:15532459G>A c.1165C>T c.(1165-1167)Cag>Tag p.Q389* GBMLGG 17 15554452 15554452 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:15554452T>C c.472A>G c.(472-474)Agt>Ggt p.S158G HNSC 17 15532098 15532098 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr17:15532098T>C c.1526A>G c.(1525-1527)tAt>tGt p.Y509C HNSC 17 15554474 15554474 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:15554474G>A c.450C>T c.(448-450)tgC>tgT p.C150C HNSC 17 15554855 15554855 + Silent SNP G G C TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr17:15554855G>C c.69C>G c.(67-69)ctC>ctG p.L23L KICH 17 15534987 15534987 + Missense_Mutation SNP G G A TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr17:15534987G>A c.1057C>T c.(1057-1059)Cgc>Tgc p.R353C KICH 17 15539560 15539560 + Silent SNP C C T TCGA-KL-8331-01A-11D-2310-10 TCGA-KL-8331-11A-01D-2310-10 g.chr17:15539560C>T c.639G>A c.(637-639)gcG>gcA p.A213A KIPAN 17 15534987 15534987 + Missense_Mutation SNP G G A TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr17:15534987G>A c.1057C>T c.(1057-1059)Cgc>Tgc p.R353C KIPAN 17 15539426 15539426 + Missense_Mutation SNP C C T TCGA-AK-3428-01A-02D-1361-10 TCGA-AK-3428-10A-01D-1361-10 g.chr17:15539426C>T c.773G>A c.(772-774)aGg>aAg p.R258K KIPAN 17 15539426 15539426 + Missense_Mutation SNP C C T TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr17:15539426C>T c.773G>A c.(772-774)aGg>aAg p.R258K KIPAN 17 15539560 15539560 + Silent SNP C C T TCGA-KL-8331-01A-11D-2310-10 TCGA-KL-8331-11A-01D-2310-10 g.chr17:15539560C>T c.639G>A c.(637-639)gcG>gcA p.A213A KIPAN 17 15554772 15554772 + Missense_Mutation SNP A A G TCGA-CW-5588-01A-01D-1534-10 TCGA-CW-5588-11A-01D-1535-10 g.chr17:15554772A>G c.152T>C c.(151-153)cTt>cCt p.L51P KIRC 17 15539426 15539426 + Missense_Mutation SNP C C T TCGA-AK-3428-01A-02D-1361-10 TCGA-AK-3428-10A-01D-1361-10 g.chr17:15539426C>T c.773G>A c.(772-774)aGg>aAg p.R258K KIRC 17 15539426 15539426 + Missense_Mutation SNP C C T TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr17:15539426C>T c.773G>A c.(772-774)aGg>aAg p.R258K KIRC 17 15554772 15554772 + Missense_Mutation SNP A A G TCGA-CW-5588-01A-01D-1534-10 TCGA-CW-5588-11A-01D-1535-10 g.chr17:15554772A>G c.152T>C c.(151-153)cTt>cCt p.L51P LGG 17 15532148 15532148 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:15532148G>A c.1476C>T c.(1474-1476)ttC>ttT p.F492F LGG 17 15532344 15532344 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:15532344T>C c.1280A>G c.(1279-1281)cAc>cGc p.H427R LGG 17 15532459 15532459 + Nonsense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 g.chr17:15532459G>A c.1165C>T c.(1165-1167)Cag>Tag p.Q389* LGG 17 15554452 15554452 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:15554452T>C c.472A>G c.(472-474)Agt>Ggt p.S158G LIHC 17 15539431 15539431 + Silent SNP C C T TCGA-DD-AAEK-01A-11D-A40R-10 TCGA-DD-AAEK-10A-01D-A40U-10 g.chr17:15539431C>T c.768G>A c.(766-768)gaG>gaA p.E256E LUAD 17 15531966 15531966 + Missense_Mutation SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr17:15531966T>C c.1658A>G c.(1657-1659)gAg>gGg p.E553G LUAD 17 15532258 15532258 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr17:15532258G>A c.1366C>T c.(1366-1368)Cgc>Tgc p.R456C LUAD 17 15535029 15535029 + Splice_Site SNP C C T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr17:15535029C>T c.e10-1 LUAD 17 15535856 15535856 + Missense_Mutation SNP A A G TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 g.chr17:15535856A>G c.982T>C c.(982-984)Tat>Cat p.Y328H LUAD 17 15535987 15535987 + Splice_Site SNP T T A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr17:15535987T>A c.851A>T c.(850-852)gAg>gTg p.E284V LUAD 17 15539485 15539485 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr17:15539485C>A c.714G>T c.(712-714)gaG>gaT p.E238D LUAD 17 15554713 15554713 + Missense_Mutation SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr17:15554713C>T c.211G>A c.(211-213)Gag>Aag p.E71K LUSC 17 15532053 15532053 + Missense_Mutation SNP C C T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr17:15532053C>T c.1571G>A c.(1570-1572)tGc>tAc p.C524Y OV 17 15535020 15535020 + Missense_Mutation SNP C C A TCGA-13-1410-01A-01W-0492-08 TCGA-13-1410-10A-01W-0493-08 g.chr17:15535020C>A c.1024G>T c.(1024-1026)Gac>Tac p.D342Y OV 17 15535915 15535915 + Nonsense_Mutation SNP G G T TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 g.chr17:15535915G>T c.923C>A c.(922-924)tCg>tAg p.S308* OV 17 15539456 15539456 + Missense_Mutation SNP G G C TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 g.chr17:15539456G>C c.743C>G c.(742-744)gCc>gGc p.A248G PAAD 17 15532139 15532139 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:15532139G>A c.1485C>T c.(1483-1485)ctC>ctT p.L495L PAAD 17 15532400 15532400 + Silent SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 g.chr17:15532400G>A c.1224C>T c.(1222-1224)ctC>ctT p.L408L PAAD 17 15534959 15534959 + Missense_Mutation SNP G G T TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr17:15534959G>T c.1085C>A c.(1084-1086)cCc>cAc p.P362H PCPG 17 15554470 15554470 + Missense_Mutation SNP C C G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 g.chr17:15554470C>G c.454G>C c.(454-456)Gac>Cac p.D152H PRAD 17 15532066 15532066 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 g.chr17:15532066G>A c.1558C>T c.(1558-1560)Cac>Tac p.H520Y SARC 17 15554817 15554817 + Missense_Mutation SNP G G A TCGA-DX-A48K-01A-11D-A307-09 TCGA-DX-A48K-10A-01D-A307-09 g.chr17:15554817G>A c.107C>T c.(106-108)tCa>tTa p.S36L SKCM 17 15532010 15532010 + Silent SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr17:15532010C>T c.1614G>A c.(1612-1614)aaG>aaA p.K538K SKCM 17 15532109 15532109 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr17:15532109G>A c.1515C>T c.(1513-1515)atC>atT p.I505I SKCM 17 15532290 15532290 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr17:15532290G>A c.1334C>T c.(1333-1335)aCc>aTc p.T445I SKCM 17 15535885 15535885 + Missense_Mutation SNP G G C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr17:15535885G>C c.953C>G c.(952-954)aCt>aGt p.T318S SKCM 17 15539401 15539401 + Silent SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr17:15539401C>T c.798G>A c.(796-798)aaG>aaA p.K266K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 15532172 15532172 single base substitution C T 3_prime_UTR_variant BLCA-US 17 15532172 15532172 single base substitution C T downstream_gene_variant BLCA-US 17 15532172 15532172 single base substitution C T exon_variant BLCA-US 17 15532172 15532172 single base substitution C T intron_variant BLCA-US 17 15532172 15532172 single base substitution C T synonymous_variant E268E 804G>A BLCA-US 17 15532172 15532172 single base substitution C T synonymous_variant E354E 1062G>A BLCA-US 17 15532172 15532172 single base substitution C T synonymous_variant E484E 1452G>A BLCA-US 17 15532492 15532492 single base substitution C T downstream_gene_variant BLCA-US 17 15532492 15532492 single base substitution C T exon_variant BLCA-US 17 15532492 15532492 single base substitution C T missense_variant D131N 391G>A BLCA-US 17 15532492 15532492 single base substitution C T missense_variant D162N 484G>A BLCA-US 17 15532492 15532492 single base substitution C T missense_variant D248N 742G>A BLCA-US 17 15532492 15532492 single base substitution C T missense_variant D378N 1132G>A BLCA-US 17 15532492 15532492 single base substitution C T synonymous_variant L106L 318G>A BLCA-US 17 15532492 15532492 single base substitution C T synonymous_variant L74L 222G>A BOCA-FR 17 15555087 15555087 single base substitution G C 5_prime_UTR_variant BOCA-FR 17 15555087 15555087 single base substitution G C downstream_gene_variant BOCA-FR 17 15555087 15555087 single base substitution G C intron_variant BRCA-EU 17 15526983 15526983 single base substitution C G downstream_gene_variant BRCA-EU 17 15527489 15527489 single base substitution T G downstream_gene_variant BRCA-EU 17 15528393 15528393 single base substitution G A downstream_gene_variant BRCA-EU 17 15529616 15529616 single base substitution G T downstream_gene_variant BRCA-EU 17 15529879 15529879 single base substitution C T downstream_gene_variant BRCA-EU 17 15530402 15530402 single base substitution A G downstream_gene_variant BRCA-EU 17 15531234 15531234 single base substitution A C downstream_gene_variant BRCA-EU 17 15532476 15532476 single base substitution T G downstream_gene_variant BRCA-EU 17 15532476 15532476 single base substitution T G exon_variant BRCA-EU 17 15532476 15532476 single base substitution T G missense_variant H136P 407A>C BRCA-EU 17 15532476 15532476 single base substitution T G missense_variant H167P 500A>C BRCA-EU 17 15532476 15532476 single base substitution T G missense_variant H253P 758A>C BRCA-EU 17 15532476 15532476 single base substitution T G missense_variant H383P 1148A>C BRCA-EU 17 15532476 15532476 single base substitution T G missense_variant T80P 238A>C BRCA-EU 17 15532476 15532476 single base substitution T G synonymous_variant ?112 BRCA-EU 17 15532624 15532624 single base substitution C G downstream_gene_variant BRCA-EU 17 15532624 15532624 single base substitution C G intron_variant BRCA-EU 17 15533084 15533084 single base substitution C T downstream_gene_variant BRCA-EU 17 15533084 15533084 single base substitution C T intron_variant BRCA-EU 17 15533290 15533290 single base substitution C T downstream_gene_variant BRCA-EU 17 15533290 15533290 single base substitution C T intron_variant BRCA-EU 17 15533455 15533455 single base substitution C A downstream_gene_variant BRCA-EU 17 15533455 15533455 single base substitution C A intron_variant BRCA-EU 17 15533455 15533455 single base substitution C T downstream_gene_variant BRCA-EU 17 15533455 15533455 single base substitution C T intron_variant BRCA-EU 17 15533684 15533684 single base substitution A T downstream_gene_variant BRCA-EU 17 15533684 15533684 single base substitution A T intron_variant BRCA-EU 17 15534090 15534090 single base substitution A T downstream_gene_variant BRCA-EU 17 15534090 15534090 single base substitution A T intron_variant BRCA-EU 17 15537019 15537019 single base substitution T A downstream_gene_variant BRCA-EU 17 15537019 15537019 single base substitution T A intron_variant BRCA-EU 17 15537019 15537019 single base substitution T A upstream_gene_variant BRCA-EU 17 15538144 15538144 single base substitution C A downstream_gene_variant BRCA-EU 17 15538144 15538144 single base substitution C A intron_variant BRCA-EU 17 15538144 15538144 single base substitution C A upstream_gene_variant BRCA-EU 17 15538146 15538146 single base substitution A C downstream_gene_variant BRCA-EU 17 15538146 15538146 single base substitution A C intron_variant BRCA-EU 17 15538146 15538146 single base substitution A C upstream_gene_variant BRCA-EU 17 15539327 15539327 single base substitution C T downstream_gene_variant BRCA-EU 17 15539327 15539327 single base substitution C T intron_variant BRCA-EU 17 15539327 15539327 single base substitution C T upstream_gene_variant BRCA-EU 17 15539337 15539337 single base substitution G A downstream_gene_variant BRCA-EU 17 15539337 15539337 single base substitution G A intron_variant BRCA-EU 17 15539337 15539337 single base substitution G A upstream_gene_variant BRCA-EU 17 15539387 15539387 single base substitution C G downstream_gene_variant BRCA-EU 17 15539387 15539387 single base substitution C G exon_variant BRCA-EU 17 15539387 15539387 single base substitution C G missense_variant R141T 422G>C BRCA-EU 17 15539387 15539387 single base substitution C G missense_variant R145T 434G>C BRCA-EU 17 15539387 15539387 single base substitution C G missense_variant R24T 71G>C BRCA-EU 17 15539387 15539387 single base substitution C G missense_variant R271T 812G>C BRCA-EU 17 15539387 15539387 single base substitution C G missense_variant R55T 164G>C BRCA-EU 17 15539387 15539387 single base substitution C G upstream_gene_variant BRCA-EU 17 15542396 15542396 single base substitution C T downstream_gene_variant BRCA-EU 17 15542396 15542396 single base substitution C T intron_variant BRCA-EU 17 15542396 15542396 single base substitution C T upstream_gene_variant BRCA-EU 17 15544594 15544594 single base substitution G A downstream_gene_variant BRCA-EU 17 15544594 15544594 single base substitution G A intron_variant BRCA-EU 17 15545767 15545767 single base substitution C A downstream_gene_variant BRCA-EU 17 15545767 15545767 single base substitution C A intron_variant BRCA-EU 17 15545944 15545944 single base substitution G A downstream_gene_variant BRCA-EU 17 15545944 15545944 single base substitution G A intron_variant BRCA-EU 17 15546433 15546433 single base substitution G T intron_variant BRCA-EU 17 15546433 15546433 single base substitution G T upstream_gene_variant BRCA-EU 17 15557068 15557068 single base substitution T A downstream_gene_variant BRCA-EU 17 15557068 15557068 single base substitution T A intron_variant BRCA-EU 17 15560170 15560170 single base substitution G A intron_variant BRCA-EU 17 15560933 15560933 single base substitution G T intron_variant BRCA-EU 17 15561346 15561346 single base substitution C A intron_variant BRCA-EU 17 15561844 15561844 single base substitution T C intron_variant BRCA-EU 17 15561984 15561984 single base substitution G A intron_variant BRCA-EU 17 15562965 15562965 single base substitution T C intron_variant BRCA-EU 17 15563561 15563561 deletion of <=200bp A - intron_variant BRCA-EU 17 15564069 15564069 single base substitution G A intron_variant BRCA-EU 17 15564430 15564430 single base substitution C T intron_variant BRCA-EU 17 15565275 15565275 single base substitution C G intron_variant BRCA-EU 17 15565901 15565901 single base substitution A C intron_variant BRCA-EU 17 15566178 15566178 single base substitution G A intron_variant BRCA-EU 17 15567137 15567137 single base substitution C A intron_variant BRCA-EU 17 15568086 15568086 single base substitution C T intron_variant BRCA-EU 17 15568207 15568207 single base substitution G A intron_variant BRCA-EU 17 15568553 15568553 single base substitution G A intron_variant BRCA-EU 17 15569149 15569149 single base substitution C A intron_variant BRCA-EU 17 15570162 15570162 single base substitution C A intron_variant BRCA-EU 17 15572373 15572373 single base substitution T C intron_variant BRCA-EU 17 15574493 15574493 single base substitution C T intron_variant BRCA-EU 17 15574837 15574837 single base substitution C T intron_variant BRCA-EU 17 15574926 15574926 deletion of <=200bp T - intron_variant BRCA-EU 17 15575486 15575486 single base substitution G C intron_variant BRCA-EU 17 15575778 15575778 single base substitution C T downstream_gene_variant BRCA-EU 17 15575778 15575778 single base substitution C T intron_variant BRCA-EU 17 15575779 15575779 single base substitution G A downstream_gene_variant BRCA-EU 17 15575779 15575779 single base substitution G A intron_variant BRCA-EU 17 15575914 15575914 single base substitution G A downstream_gene_variant BRCA-EU 17 15575914 15575914 single base substitution G A intron_variant BRCA-EU 17 15576308 15576308 single base substitution C A downstream_gene_variant BRCA-EU 17 15576308 15576308 single base substitution C A intron_variant BRCA-EU 17 15579182 15579182 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 15579182 15579182 deletion of <=200bp T - intron_variant BRCA-EU 17 15579543 15579543 single base substitution G C downstream_gene_variant BRCA-EU 17 15579543 15579543 single base substitution G C intron_variant BRCA-EU 17 15579911 15579911 single base substitution G A downstream_gene_variant BRCA-EU 17 15579911 15579911 single base substitution G A intron_variant BRCA-EU 17 15581704 15581704 single base substitution C G downstream_gene_variant BRCA-EU 17 15581704 15581704 single base substitution C G intron_variant BRCA-EU 17 15581809 15581809 single base substitution C T downstream_gene_variant BRCA-EU 17 15581809 15581809 single base substitution C T intron_variant BRCA-EU 17 15583988 15583988 single base substitution C G downstream_gene_variant BRCA-EU 17 15583988 15583988 single base substitution C G intron_variant BRCA-EU 17 15584063 15584063 single base substitution T A downstream_gene_variant BRCA-EU 17 15584063 15584063 single base substitution T A intron_variant BRCA-EU 17 15585372 15585372 single base substitution G C downstream_gene_variant BRCA-EU 17 15585372 15585372 single base substitution G C intron_variant BRCA-EU 17 15585372 15585372 single base substitution G C upstream_gene_variant BRCA-EU 17 15586085 15586085 single base substitution C T downstream_gene_variant BRCA-EU 17 15586085 15586085 single base substitution C T intron_variant BRCA-EU 17 15586085 15586085 single base substitution C T upstream_gene_variant BRCA-EU 17 15586647 15586647 single base substitution C T 5_prime_UTR_variant BRCA-EU 17 15586647 15586647 single base substitution C T exon_variant BRCA-EU 17 15586647 15586647 single base substitution C T intron_variant BRCA-EU 17 15586647 15586647 single base substitution C T upstream_gene_variant BRCA-EU 17 15588309 15588309 single base substitution G C upstream_gene_variant BRCA-EU 17 15588388 15588388 single base substitution C T upstream_gene_variant BRCA-EU 17 15588886 15588886 single base substitution C G upstream_gene_variant BRCA-EU 17 15589003 15589003 single base substitution A G upstream_gene_variant BRCA-EU 17 15590813 15590813 single base substitution C G upstream_gene_variant BRCA-FR 17 15526783 15526783 single base substitution T G downstream_gene_variant BRCA-FR 17 15527489 15527489 single base substitution T G downstream_gene_variant BRCA-FR 17 15538049 15538049 single base substitution C T downstream_gene_variant BRCA-FR 17 15538049 15538049 single base substitution C T intron_variant BRCA-FR 17 15538049 15538049 single base substitution C T upstream_gene_variant BRCA-FR 17 15545944 15545944 single base substitution G A downstream_gene_variant BRCA-FR 17 15545944 15545944 single base substitution G A intron_variant BRCA-FR 17 15568207 15568207 single base substitution G A intron_variant BRCA-FR 17 15574109 15574109 single base substitution T C intron_variant BRCA-FR 17 15574493 15574493 single base substitution C T intron_variant BRCA-FR 17 15581704 15581704 single base substitution C G downstream_gene_variant BRCA-FR 17 15581704 15581704 single base substitution C G intron_variant BRCA-FR 17 15581809 15581809 single base substitution C T downstream_gene_variant BRCA-FR 17 15581809 15581809 single base substitution C T intron_variant BRCA-FR 17 15590216 15590216 single base substitution G T upstream_gene_variant BRCA-UK 17 15529613 15529613 single base substitution G T downstream_gene_variant BRCA-UK 17 15539106 15539106 single base substitution A G downstream_gene_variant BRCA-UK 17 15539106 15539106 single base substitution A G intron_variant BRCA-UK 17 15539106 15539106 single base substitution A G upstream_gene_variant BRCA-UK 17 15544997 15544997 single base substitution C T downstream_gene_variant BRCA-UK 17 15544997 15544997 single base substitution C T intron_variant BRCA-UK 17 15546433 15546433 single base substitution G T intron_variant BRCA-UK 17 15546433 15546433 single base substitution G T upstream_gene_variant BRCA-UK 17 15575486 15575486 single base substitution G C intron_variant BRCA-US 17 15535029 15535029 single base substitution C G downstream_gene_variant BRCA-US 17 15535029 15535029 single base substitution C G exon_variant BRCA-US 17 15535029 15535029 single base substitution C G intron_variant BRCA-US 17 15535029 15535029 single base substitution C G splice_acceptor_variant BRCA-US 17 15535965 15535965 single base substitution A G downstream_gene_variant BRCA-US 17 15535965 15535965 single base substitution A G exon_variant BRCA-US 17 15535965 15535965 single base substitution A G intron_variant BRCA-US 17 15535965 15535965 single base substitution A G synonymous_variant T161T 483T>C BRCA-US 17 15535965 15535965 single base substitution A G synonymous_variant T165T 495T>C BRCA-US 17 15535965 15535965 single base substitution A G synonymous_variant T291T 873T>C BRCA-US 17 15535965 15535965 single base substitution A G synonymous_variant T44T 132T>C BRCA-US 17 15535965 15535965 single base substitution A G synonymous_variant T75T 225T>C BRCA-US 17 15535965 15535965 single base substitution A G upstream_gene_variant BTCA-JP 17 15532187 15532187 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 15532187 15532187 single base substitution C T downstream_gene_variant BTCA-JP 17 15532187 15532187 single base substitution C T exon_variant BTCA-JP 17 15532187 15532187 single base substitution C T splice_donor_variant BTCA-JP 17 15532187 15532187 single base substitution C T stop_gained W263* 789G>A BTCA-JP 17 15532187 15532187 single base substitution C T stop_gained W349* 1047G>A BTCA-JP 17 15532187 15532187 single base substitution C T stop_gained W479* 1437G>A BTCA-JP 17 15554584 15554584 single base substitution G C downstream_gene_variant BTCA-JP 17 15554584 15554584 single base substitution G C intron_variant BTCA-JP 17 15554584 15554584 single base substitution G C missense_variant L114V 340C>G CESC-US 17 15534963 15534963 single base substitution C G downstream_gene_variant CESC-US 17 15534963 15534963 single base substitution C G exon_variant CESC-US 17 15534963 15534963 single base substitution C G intron_variant CESC-US 17 15534963 15534963 single base substitution C G missense_variant E114Q 340G>C CESC-US 17 15534963 15534963 single base substitution C G missense_variant E145Q 433G>C CESC-US 17 15534963 15534963 single base substitution C G missense_variant E231Q 691G>C CESC-US 17 15534963 15534963 single base substitution C G missense_variant E361Q 1081G>C CESC-US 17 15534963 15534963 single base substitution C G synonymous_variant L89L 267G>C CESC-US 17 15535892 15535892 single base substitution C T downstream_gene_variant CESC-US 17 15535892 15535892 single base substitution C T exon_variant CESC-US 17 15535892 15535892 single base substitution C T intron_variant CESC-US 17 15535892 15535892 single base substitution C T missense_variant E100K 298G>A CESC-US 17 15535892 15535892 single base substitution C T missense_variant E186K 556G>A CESC-US 17 15535892 15535892 single base substitution C T missense_variant E316K 946G>A CESC-US 17 15535892 15535892 single base substitution C T missense_variant E69K 205G>A CESC-US 17 15535892 15535892 single base substitution C T upstream_gene_variant CESC-US 17 15539374 15539374 single base substitution G A downstream_gene_variant CESC-US 17 15539374 15539374 single base substitution G A exon_variant CESC-US 17 15539374 15539374 single base substitution G A synonymous_variant I145I 435C>T CESC-US 17 15539374 15539374 single base substitution G A synonymous_variant I149I 447C>T CESC-US 17 15539374 15539374 single base substitution G A synonymous_variant I275I 825C>T CESC-US 17 15539374 15539374 single base substitution G A synonymous_variant I28I 84C>T CESC-US 17 15539374 15539374 single base substitution G A synonymous_variant I59I 177C>T CESC-US 17 15539374 15539374 single base substitution G A upstream_gene_variant CESC-US 17 15554673 15554673 single base substitution G C downstream_gene_variant CESC-US 17 15554673 15554673 single base substitution G C intron_variant CESC-US 17 15554673 15554673 single base substitution G C missense_variant T84S 251C>G CESC-US 17 15584410 15584410 single base substitution G C downstream_gene_variant CESC-US 17 15584410 15584410 single base substitution G C exon_variant CESC-US 17 15584410 15584410 single base substitution G C intron_variant CESC-US 17 15584410 15584410 single base substitution G C upstream_gene_variant CLLE-ES 17 15526346 15526346 single base substitution A C downstream_gene_variant CLLE-ES 17 15528704 15528704 single base substitution T G downstream_gene_variant CLLE-ES 17 15548130 15548130 single base substitution G C intron_variant CLLE-ES 17 15548130 15548130 single base substitution G C upstream_gene_variant CLLE-ES 17 15577319 15577319 single base substitution T C downstream_gene_variant CLLE-ES 17 15577319 15577319 single base substitution T C intron_variant CLLE-ES 17 15578608 15578608 single base substitution G A downstream_gene_variant CLLE-ES 17 15578608 15578608 single base substitution G A intron_variant CLLE-ES 17 15580189 15580189 single base substitution G C downstream_gene_variant CLLE-ES 17 15580189 15580189 single base substitution G C intron_variant COAD-US 17 15532147 15532147 single base substitution G A 3_prime_UTR_variant COAD-US 17 15532147 15532147 single base substitution G A downstream_gene_variant COAD-US 17 15532147 15532147 single base substitution G A exon_variant COAD-US 17 15532147 15532147 single base substitution G A intron_variant COAD-US 17 15532147 15532147 single base substitution G A missense_variant R277W 829C>T COAD-US 17 15532147 15532147 single base substitution G A missense_variant R363W 1087C>T COAD-US 17 15532147 15532147 single base substitution G A missense_variant R493W 1477C>T COAD-US 17 15534986 15534986 single base substitution C T downstream_gene_variant COAD-US 17 15534986 15534986 single base substitution C T exon_variant COAD-US 17 15534986 15534986 single base substitution C T intron_variant COAD-US 17 15534986 15534986 single base substitution C T missense_variant A82T 244G>A COAD-US 17 15534986 15534986 single base substitution C T missense_variant R106H 317G>A COAD-US 17 15534986 15534986 single base substitution C T missense_variant R137H 410G>A COAD-US 17 15534986 15534986 single base substitution C T missense_variant R223H 668G>A COAD-US 17 15534986 15534986 single base substitution C T missense_variant R353H 1058G>A COAD-US 17 15535931 15535931 single base substitution G T downstream_gene_variant COAD-US 17 15535931 15535931 single base substitution G T exon_variant COAD-US 17 15535931 15535931 single base substitution G T intron_variant COAD-US 17 15535931 15535931 single base substitution G T missense_variant L173M 517C>A COAD-US 17 15535931 15535931 single base substitution G T missense_variant L177M 529C>A COAD-US 17 15535931 15535931 single base substitution G T missense_variant L303M 907C>A COAD-US 17 15535931 15535931 single base substitution G T missense_variant L56M 166C>A COAD-US 17 15535931 15535931 single base substitution G T missense_variant L87M 259C>A COAD-US 17 15535931 15535931 single base substitution G T upstream_gene_variant COAD-US 17 15554803 15554803 single base substitution C T downstream_gene_variant COAD-US 17 15554803 15554803 single base substitution C T intron_variant COAD-US 17 15554803 15554803 single base substitution C T missense_variant E41K 121G>A COCA-CN 17 15531954 15531954 single base substitution G A downstream_gene_variant COCA-CN 17 15531954 15531954 single base substitution G A intron_variant COCA-CN 17 15531954 15531954 single base substitution G A missense_variant P341L 1022C>T COCA-CN 17 15531954 15531954 single base substitution G A missense_variant P427L 1280C>T COCA-CN 17 15531954 15531954 single base substitution G A missense_variant P557L 1670C>T COCA-CN 17 15532046 15532046 single base substitution A C 3_prime_UTR_variant COCA-CN 17 15532046 15532046 single base substitution A C downstream_gene_variant COCA-CN 17 15532046 15532046 single base substitution A C exon_variant COCA-CN 17 15532046 15532046 single base substitution A C intron_variant COCA-CN 17 15532046 15532046 single base substitution A C missense_variant F310L 930T>G COCA-CN 17 15532046 15532046 single base substitution A C missense_variant F396L 1188T>G COCA-CN 17 15532046 15532046 single base substitution A C missense_variant F526L 1578T>G COCA-CN 17 15534956 15534956 single base substitution C T downstream_gene_variant COCA-CN 17 15534956 15534956 single base substitution C T exon_variant COCA-CN 17 15534956 15534956 single base substitution C T intron_variant COCA-CN 17 15534956 15534956 single base substitution C T missense_variant A92T 274G>A COCA-CN 17 15534956 15534956 single base substitution C T missense_variant S116N 347G>A COCA-CN 17 15534956 15534956 single base substitution C T missense_variant S147N 440G>A COCA-CN 17 15534956 15534956 single base substitution C T missense_variant S233N 698G>A COCA-CN 17 15534956 15534956 single base substitution C T missense_variant S363N 1088G>A COCA-CN 17 15539387 15539387 single base substitution C G downstream_gene_variant COCA-CN 17 15539387 15539387 single base substitution C G exon_variant COCA-CN 17 15539387 15539387 single base substitution C G missense_variant R141T 422G>C COCA-CN 17 15539387 15539387 single base substitution C G missense_variant R145T 434G>C COCA-CN 17 15539387 15539387 single base substitution C G missense_variant R24T 71G>C COCA-CN 17 15539387 15539387 single base substitution C G missense_variant R271T 812G>C COCA-CN 17 15539387 15539387 single base substitution C G missense_variant R55T 164G>C COCA-CN 17 15539387 15539387 single base substitution C G upstream_gene_variant COCA-CN 17 15554978 15554978 single base substitution T C 5_prime_UTR_variant COCA-CN 17 15554978 15554978 single base substitution T C downstream_gene_variant COCA-CN 17 15554978 15554978 single base substitution T C intron_variant COCA-CN 17 15586278 15586278 single base substitution A G intron_variant COCA-CN 17 15586278 15586278 single base substitution A G splice_region_variant COCA-CN 17 15586278 15586278 single base substitution A G upstream_gene_variant COCA-CN 17 15586339 15586339 single base substitution C A intron_variant COCA-CN 17 15586339 15586339 single base substitution C A upstream_gene_variant COCA-CN 17 15586532 15586532 single base substitution C A 5_prime_UTR_variant COCA-CN 17 15586532 15586532 single base substitution C A exon_variant COCA-CN 17 15586532 15586532 single base substitution C A intron_variant COCA-CN 17 15586532 15586532 single base substitution C A upstream_gene_variant ESAD-UK 17 15529941 15529941 insertion of <=200bp - CATT downstream_gene_variant ESAD-UK 17 15550237 15550237 single base substitution C T downstream_gene_variant ESAD-UK 17 15550237 15550237 single base substitution C T intron_variant ESAD-UK 17 15550237 15550237 single base substitution C T upstream_gene_variant ESAD-UK 17 15550472 15550472 single base substitution G C downstream_gene_variant ESAD-UK 17 15550472 15550472 single base substitution G C intron_variant ESAD-UK 17 15550472 15550472 single base substitution G C upstream_gene_variant ESAD-UK 17 15551295 15551295 single base substitution T G downstream_gene_variant ESAD-UK 17 15551295 15551295 single base substitution T G intron_variant ESAD-UK 17 15551295 15551295 single base substitution T G upstream_gene_variant ESAD-UK 17 15554849 15554849 single base substitution T C downstream_gene_variant ESAD-UK 17 15554849 15554849 single base substitution T C intron_variant ESAD-UK 17 15554849 15554849 single base substitution T C synonymous_variant P25P 75A>G ESAD-UK 17 15556123 15556123 single base substitution T C downstream_gene_variant ESAD-UK 17 15556123 15556123 single base substitution T C intron_variant ESAD-UK 17 15560235 15560235 single base substitution C A intron_variant ESAD-UK 17 15560670 15560670 single base substitution C T intron_variant ESAD-UK 17 15560811 15560811 deletion of <=200bp A - intron_variant ESAD-UK 17 15565143 15565143 single base substitution G A intron_variant ESAD-UK 17 15566627 15566627 single base substitution G A intron_variant ESAD-UK 17 15572217 15572217 single base substitution T A intron_variant ESAD-UK 17 15575921 15575921 single base substitution G T downstream_gene_variant ESAD-UK 17 15575921 15575921 single base substitution G T intron_variant ESAD-UK 17 15578863 15578863 single base substitution G A downstream_gene_variant ESAD-UK 17 15578863 15578863 single base substitution G A intron_variant ESAD-UK 17 15581956 15581956 single base substitution A G downstream_gene_variant ESAD-UK 17 15581956 15581956 single base substitution A G intron_variant ESAD-UK 17 15586233 15586233 single base substitution C A 5_prime_UTR_variant ESAD-UK 17 15586233 15586233 single base substitution C A exon_variant ESAD-UK 17 15586233 15586233 single base substitution C A intron_variant ESAD-UK 17 15586233 15586233 single base substitution C A upstream_gene_variant ESAD-UK 17 15589058 15589058 single base substitution G A upstream_gene_variant ESAD-UK 17 15590265 15590265 single base substitution G A upstream_gene_variant ESCA-CN 17 15532437 15532437 single base substitution G T downstream_gene_variant ESCA-CN 17 15532437 15532437 single base substitution G T exon_variant ESCA-CN 17 15532437 15532437 single base substitution G T missense_variant P93T 277C>A ESCA-CN 17 15532437 15532437 single base substitution G T missense_variant T149N 446C>A ESCA-CN 17 15532437 15532437 single base substitution G T missense_variant T180N 539C>A ESCA-CN 17 15532437 15532437 single base substitution G T missense_variant T266N 797C>A ESCA-CN 17 15532437 15532437 single base substitution G T missense_variant T396N 1187C>A ESCA-CN 17 15539404 15539404 single base substitution G A downstream_gene_variant ESCA-CN 17 15539404 15539404 single base substitution G A exon_variant ESCA-CN 17 15539404 15539404 single base substitution G A synonymous_variant S135S 405C>T ESCA-CN 17 15539404 15539404 single base substitution G A synonymous_variant S139S 417C>T ESCA-CN 17 15539404 15539404 single base substitution G A synonymous_variant S18S 54C>T ESCA-CN 17 15539404 15539404 single base substitution G A synonymous_variant S265S 795C>T ESCA-CN 17 15539404 15539404 single base substitution G A synonymous_variant S49S 147C>T ESCA-CN 17 15539404 15539404 single base substitution G A upstream_gene_variant ESCA-CN 17 15539560 15539560 single base substitution C T 5_prime_UTR_variant ESCA-CN 17 15539560 15539560 single base substitution C T exon_variant ESCA-CN 17 15539560 15539560 single base substitution C T synonymous_variant A213A 639G>A ESCA-CN 17 15539560 15539560 single base substitution C T synonymous_variant A83A 249G>A ESCA-CN 17 15539560 15539560 single base substitution C T synonymous_variant A87A 261G>A ESCA-CN 17 15539560 15539560 single base substitution C T upstream_gene_variant ESCA-CN 17 15554504 15554504 single base substitution G A downstream_gene_variant ESCA-CN 17 15554504 15554504 single base substitution G A intron_variant ESCA-CN 17 15554504 15554504 single base substitution G A synonymous_variant A140A 420C>T ESCA-CN 17 15554586 15554586 single base substitution T C downstream_gene_variant ESCA-CN 17 15554586 15554586 single base substitution T C intron_variant ESCA-CN 17 15554586 15554586 single base substitution T C missense_variant K113R 338A>G KIRC-US 17 15539426 15539426 single base substitution C T downstream_gene_variant KIRC-US 17 15539426 15539426 single base substitution C T exon_variant KIRC-US 17 15539426 15539426 single base substitution C T missense_variant R11K 32G>A KIRC-US 17 15539426 15539426 single base substitution C T missense_variant R128K 383G>A KIRC-US 17 15539426 15539426 single base substitution C T missense_variant R132K 395G>A KIRC-US 17 15539426 15539426 single base substitution C T missense_variant R258K 773G>A KIRC-US 17 15539426 15539426 single base substitution C T missense_variant R42K 125G>A KIRC-US 17 15539426 15539426 single base substitution C T upstream_gene_variant KIRC-US 17 15554772 15554772 single base substitution A G downstream_gene_variant KIRC-US 17 15554772 15554772 single base substitution A G intron_variant KIRC-US 17 15554772 15554772 single base substitution A G missense_variant L51P 152T>C LAML-KR 17 15532551 15532551 single base substitution T C downstream_gene_variant LAML-KR 17 15532551 15532551 single base substitution T C intron_variant LAML-KR 17 15532729 15532729 single base substitution G A downstream_gene_variant LAML-KR 17 15532729 15532729 single base substitution G A intron_variant LAML-KR 17 15536364 15536364 single base substitution A G downstream_gene_variant LAML-KR 17 15536364 15536364 single base substitution A G intron_variant LAML-KR 17 15536364 15536364 single base substitution A G upstream_gene_variant LAML-KR 17 15540744 15540744 single base substitution A G intron_variant LAML-KR 17 15540744 15540744 single base substitution A G upstream_gene_variant LAML-KR 17 15540906 15540906 single base substitution C T intron_variant LAML-KR 17 15540906 15540906 single base substitution C T upstream_gene_variant LAML-KR 17 15546139 15546139 single base substitution G A 5_prime_UTR_variant LAML-KR 17 15546139 15546139 single base substitution G A intron_variant LAML-KR 17 15574214 15574214 single base substitution A G intron_variant LAML-KR 17 15574507 15574507 single base substitution A C intron_variant LAML-KR 17 15574566 15574566 single base substitution T A intron_variant LAML-KR 17 15576970 15576970 single base substitution T G downstream_gene_variant LAML-KR 17 15576970 15576970 single base substitution T G intron_variant LAML-KR 17 15577108 15577108 single base substitution A G downstream_gene_variant LAML-KR 17 15577108 15577108 single base substitution A G intron_variant LAML-KR 17 15584405 15584405 single base substitution G A downstream_gene_variant LAML-KR 17 15584405 15584405 single base substitution G A exon_variant LAML-KR 17 15584405 15584405 single base substitution G A intron_variant LAML-KR 17 15584405 15584405 single base substitution G A upstream_gene_variant LAML-KR 17 15584976 15584976 single base substitution G A downstream_gene_variant LAML-KR 17 15584976 15584976 single base substitution G A intron_variant LAML-KR 17 15584976 15584976 single base substitution G A upstream_gene_variant LAML-KR 17 15584978 15584978 single base substitution C T downstream_gene_variant LAML-KR 17 15584978 15584978 single base substitution C T intron_variant LAML-KR 17 15584978 15584978 single base substitution C T upstream_gene_variant LAML-KR 17 15585000 15585000 single base substitution G C downstream_gene_variant LAML-KR 17 15585000 15585000 single base substitution G C intron_variant LAML-KR 17 15585000 15585000 single base substitution G C upstream_gene_variant LAML-KR 17 15585000 15585000 single base substitution G T downstream_gene_variant LAML-KR 17 15585000 15585000 single base substitution G T intron_variant LAML-KR 17 15585000 15585000 single base substitution G T upstream_gene_variant LGG-US 17 15532459 15532459 single base substitution G A downstream_gene_variant LGG-US 17 15532459 15532459 single base substitution G A exon_variant LGG-US 17 15532459 15532459 single base substitution G A stop_gained Q142* 424C>T LGG-US 17 15532459 15532459 single base substitution G A stop_gained Q173* 517C>T LGG-US 17 15532459 15532459 single base substitution G A stop_gained Q259* 775C>T LGG-US 17 15532459 15532459 single base substitution G A stop_gained Q389* 1165C>T LGG-US 17 15532459 15532459 single base substitution G A synonymous_variant C85C 255C>T LICA-FR 17 15529311 15529311 single base substitution G T downstream_gene_variant LICA-FR 17 15532729 15532729 single base substitution G A downstream_gene_variant LICA-FR 17 15532729 15532729 single base substitution G A intron_variant LICA-FR 17 15537194 15537194 single base substitution G A downstream_gene_variant LICA-FR 17 15537194 15537194 single base substitution G A intron_variant LICA-FR 17 15537194 15537194 single base substitution G A upstream_gene_variant LICA-FR 17 15539387 15539387 single base substitution C G downstream_gene_variant LICA-FR 17 15539387 15539387 single base substitution C G exon_variant LICA-FR 17 15539387 15539387 single base substitution C G missense_variant R141T 422G>C LICA-FR 17 15539387 15539387 single base substitution C G missense_variant R145T 434G>C LICA-FR 17 15539387 15539387 single base substitution C G missense_variant R24T 71G>C LICA-FR 17 15539387 15539387 single base substitution C G missense_variant R271T 812G>C LICA-FR 17 15539387 15539387 single base substitution C G missense_variant R55T 164G>C LICA-FR 17 15539387 15539387 single base substitution C G upstream_gene_variant LICA-FR 17 15540924 15540924 single base substitution G A intron_variant LICA-FR 17 15540924 15540924 single base substitution G A upstream_gene_variant LICA-FR 17 15541139 15541139 single base substitution A G downstream_gene_variant LICA-FR 17 15541139 15541139 single base substitution A G intron_variant LICA-FR 17 15541139 15541139 single base substitution A G upstream_gene_variant LICA-FR 17 15545461 15545461 single base substitution T A downstream_gene_variant LICA-FR 17 15545461 15545461 single base substitution T A intron_variant LICA-FR 17 15547919 15547919 single base substitution T C intron_variant LICA-FR 17 15547919 15547919 single base substitution T C upstream_gene_variant LICA-FR 17 15550915 15550915 single base substitution C T downstream_gene_variant LICA-FR 17 15550915 15550915 single base substitution C T intron_variant LICA-FR 17 15550915 15550915 single base substitution C T upstream_gene_variant LICA-FR 17 15554853 15554853 single base substitution C T downstream_gene_variant LICA-FR 17 15554853 15554853 single base substitution C T intron_variant LICA-FR 17 15554853 15554853 single base substitution C T missense_variant S24N 71G>A LICA-FR 17 15555465 15555465 insertion of <=200bp - T downstream_gene_variant LICA-FR 17 15555465 15555465 insertion of <=200bp - T intron_variant LICA-FR 17 15560134 15560134 insertion of <=200bp - A intron_variant LICA-FR 17 15574098 15574098 single base substitution A T intron_variant LICA-FR 17 15574507 15574507 single base substitution A C intron_variant LICA-FR 17 15574566 15574566 single base substitution T A intron_variant LICA-FR 17 15577108 15577108 single base substitution A G downstream_gene_variant LICA-FR 17 15577108 15577108 single base substitution A G intron_variant LICA-FR 17 15583426 15583426 single base substitution T C downstream_gene_variant LICA-FR 17 15583426 15583426 single base substitution T C intron_variant LICA-FR 17 15584899 15584899 single base substitution T C downstream_gene_variant LICA-FR 17 15584899 15584899 single base substitution T C intron_variant LICA-FR 17 15584899 15584899 single base substitution T C upstream_gene_variant LINC-JP 17 15532233 15532233 single base substitution T C 3_prime_UTR_variant LINC-JP 17 15532233 15532233 single base substitution T C downstream_gene_variant LINC-JP 17 15532233 15532233 single base substitution T C exon_variant LINC-JP 17 15532233 15532233 single base substitution T C missense_variant N217S 650A>G LINC-JP 17 15532233 15532233 single base substitution T C missense_variant N248S 743A>G LINC-JP 17 15532233 15532233 single base substitution T C missense_variant N334S 1001A>G LINC-JP 17 15532233 15532233 single base substitution T C missense_variant N464S 1391A>G LINC-JP 17 15537671 15537671 single base substitution C T downstream_gene_variant LINC-JP 17 15537671 15537671 single base substitution C T intron_variant LINC-JP 17 15537671 15537671 single base substitution C T upstream_gene_variant LINC-JP 17 15574139 15574139 single base substitution A G intron_variant LINC-JP 17 15586552 15586552 single base substitution C G 5_prime_UTR_variant LINC-JP 17 15586552 15586552 single base substitution C G exon_variant LINC-JP 17 15586552 15586552 single base substitution C G intron_variant LINC-JP 17 15586552 15586552 single base substitution C G upstream_gene_variant LIRI-JP 17 15526758 15526758 single base substitution T A downstream_gene_variant LIRI-JP 17 15528406 15528406 single base substitution G T downstream_gene_variant LIRI-JP 17 15528724 15528724 single base substitution A G downstream_gene_variant LIRI-JP 17 15533231 15533231 single base substitution C A downstream_gene_variant LIRI-JP 17 15533231 15533231 single base substitution C A intron_variant LIRI-JP 17 15533372 15533372 single base substitution C T downstream_gene_variant LIRI-JP 17 15533372 15533372 single base substitution C T intron_variant LIRI-JP 17 15536592 15536592 single base substitution C A downstream_gene_variant LIRI-JP 17 15536592 15536592 single base substitution C A intron_variant LIRI-JP 17 15536592 15536592 single base substitution C A upstream_gene_variant LIRI-JP 17 15536645 15536645 single base substitution T C downstream_gene_variant LIRI-JP 17 15536645 15536645 single base substitution T C intron_variant LIRI-JP 17 15536645 15536645 single base substitution T C upstream_gene_variant LIRI-JP 17 15549223 15549223 single base substitution A C intron_variant LIRI-JP 17 15549223 15549223 single base substitution A C upstream_gene_variant LIRI-JP 17 15551975 15551975 single base substitution C T downstream_gene_variant LIRI-JP 17 15551975 15551975 single base substitution C T intron_variant LIRI-JP 17 15555193 15555197 deletion of <=200bp TTCTA - 5_prime_UTR_variant LIRI-JP 17 15555193 15555197 deletion of <=200bp TTCTA - downstream_gene_variant LIRI-JP 17 15555193 15555197 deletion of <=200bp TTCTA - exon_variant LIRI-JP 17 15555193 15555197 deletion of <=200bp TTCTA - intron_variant LIRI-JP 17 15557422 15557422 single base substitution T C downstream_gene_variant LIRI-JP 17 15557422 15557422 single base substitution T C intron_variant LIRI-JP 17 15560533 15560533 single base substitution T C intron_variant LIRI-JP 17 15561132 15561132 single base substitution C T intron_variant LIRI-JP 17 15563584 15563584 single base substitution T C intron_variant LIRI-JP 17 15565076 15565076 single base substitution T C intron_variant LIRI-JP 17 15565142 15565142 single base substitution T C intron_variant LIRI-JP 17 15565188 15565188 single base substitution C T intron_variant LIRI-JP 17 15566891 15566891 single base substitution C T intron_variant LIRI-JP 17 15568307 15568307 single base substitution T C intron_variant LIRI-JP 17 15573142 15573142 single base substitution T A intron_variant LIRI-JP 17 15573786 15573786 insertion of <=200bp - AAG intron_variant LIRI-JP 17 15573835 15573835 single base substitution A G intron_variant LIRI-JP 17 15576724 15576724 single base substitution C T downstream_gene_variant LIRI-JP 17 15576724 15576724 single base substitution C T intron_variant LIRI-JP 17 15577108 15577108 single base substitution A G downstream_gene_variant LIRI-JP 17 15577108 15577108 single base substitution A G intron_variant LIRI-JP 17 15577300 15577303 deletion of <=200bp GATA - downstream_gene_variant LIRI-JP 17 15577300 15577303 deletion of <=200bp GATA - intron_variant LIRI-JP 17 15577545 15577545 single base substitution A G downstream_gene_variant LIRI-JP 17 15577545 15577545 single base substitution A G intron_variant LIRI-JP 17 15577987 15577987 single base substitution T C downstream_gene_variant LIRI-JP 17 15577987 15577987 single base substitution T C intron_variant LIRI-JP 17 15579237 15579237 single base substitution A C downstream_gene_variant LIRI-JP 17 15579237 15579237 single base substitution A C intron_variant LIRI-JP 17 15579238 15579238 single base substitution A C downstream_gene_variant LIRI-JP 17 15579238 15579238 single base substitution A C intron_variant LIRI-JP 17 15580223 15580223 single base substitution A C downstream_gene_variant LIRI-JP 17 15580223 15580223 single base substitution A C intron_variant LIRI-JP 17 15584441 15584445 deletion of <=200bp TGAAC - downstream_gene_variant LIRI-JP 17 15584441 15584445 deletion of <=200bp TGAAC - exon_variant LIRI-JP 17 15584441 15584445 deletion of <=200bp TGAAC - intron_variant LIRI-JP 17 15584441 15584445 deletion of <=200bp TGAAC - upstream_gene_variant LIRI-JP 17 15584611 15584611 single base substitution G A downstream_gene_variant LIRI-JP 17 15584611 15584611 single base substitution G A intron_variant LIRI-JP 17 15584611 15584611 single base substitution G A upstream_gene_variant LIRI-JP 17 15585196 15585196 single base substitution T C downstream_gene_variant LIRI-JP 17 15585196 15585196 single base substitution T C intron_variant LIRI-JP 17 15585196 15585196 single base substitution T C upstream_gene_variant LIRI-JP 17 15585536 15585536 single base substitution C T downstream_gene_variant LIRI-JP 17 15585536 15585536 single base substitution C T intron_variant LIRI-JP 17 15585536 15585536 single base substitution C T upstream_gene_variant LIRI-JP 17 15585844 15585844 single base substitution A C downstream_gene_variant LIRI-JP 17 15585844 15585844 single base substitution A C intron_variant LIRI-JP 17 15585844 15585844 single base substitution A C upstream_gene_variant LIRI-JP 17 15586439 15586439 single base substitution T C 5_prime_UTR_variant LIRI-JP 17 15586439 15586439 single base substitution T C exon_variant LIRI-JP 17 15586439 15586439 single base substitution T C upstream_gene_variant LIRI-JP 17 15586802 15586802 single base substitution G T 5_prime_UTR_variant LIRI-JP 17 15586802 15586802 single base substitution G T intron_variant LIRI-JP 17 15586802 15586802 single base substitution G T upstream_gene_variant LIRI-JP 17 15587104 15587104 single base substitution C T 5_prime_UTR_variant LIRI-JP 17 15587104 15587104 single base substitution C T intron_variant LIRI-JP 17 15587104 15587104 single base substitution C T upstream_gene_variant LIRI-JP 17 15591278 15591278 single base substitution C T upstream_gene_variant LUSC-KR 17 15530499 15530499 single base substitution T C downstream_gene_variant LUSC-KR 17 15532507 15532507 single base substitution A G downstream_gene_variant LUSC-KR 17 15532507 15532507 single base substitution A G exon_variant LUSC-KR 17 15532507 15532507 single base substitution A G missense_variant Y126H 376T>C LUSC-KR 17 15532507 15532507 single base substitution A G missense_variant Y157H 469T>C LUSC-KR 17 15532507 15532507 single base substitution A G missense_variant Y243H 727T>C LUSC-KR 17 15532507 15532507 single base substitution A G missense_variant Y373H 1117T>C LUSC-KR 17 15532507 15532507 single base substitution A G synonymous_variant R101R 303T>C LUSC-KR 17 15532507 15532507 single base substitution A G synonymous_variant R69R 207T>C LUSC-KR 17 15532509 15532509 single base substitution G A downstream_gene_variant LUSC-KR 17 15532509 15532509 single base substitution G A exon_variant LUSC-KR 17 15532509 15532509 single base substitution G A missense_variant A125V 374C>T LUSC-KR 17 15532509 15532509 single base substitution G A missense_variant A156V 467C>T LUSC-KR 17 15532509 15532509 single base substitution G A missense_variant A242V 725C>T LUSC-KR 17 15532509 15532509 single base substitution G A missense_variant A372V 1115C>T LUSC-KR 17 15532509 15532509 single base substitution G A missense_variant R101C 301C>T LUSC-KR 17 15532509 15532509 single base substitution G A missense_variant R69C 205C>T LUSC-KR 17 15532551 15532551 single base substitution T C downstream_gene_variant LUSC-KR 17 15532551 15532551 single base substitution T C intron_variant LUSC-KR 17 15532729 15532729 single base substitution G A downstream_gene_variant LUSC-KR 17 15532729 15532729 single base substitution G A intron_variant LUSC-KR 17 15532748 15532748 single base substitution A G downstream_gene_variant LUSC-KR 17 15532748 15532748 single base substitution A G intron_variant LUSC-KR 17 15535167 15535167 single base substitution C A downstream_gene_variant LUSC-KR 17 15535167 15535167 single base substitution C A exon_variant LUSC-KR 17 15535167 15535167 single base substitution C A intron_variant LUSC-KR 17 15536246 15536246 single base substitution G A downstream_gene_variant LUSC-KR 17 15536246 15536246 single base substitution G A intron_variant LUSC-KR 17 15536246 15536246 single base substitution G A upstream_gene_variant LUSC-KR 17 15536364 15536364 single base substitution A G downstream_gene_variant LUSC-KR 17 15536364 15536364 single base substitution A G intron_variant LUSC-KR 17 15536364 15536364 single base substitution A G upstream_gene_variant LUSC-KR 17 15537408 15537408 single base substitution C A downstream_gene_variant LUSC-KR 17 15537408 15537408 single base substitution C A intron_variant LUSC-KR 17 15537408 15537408 single base substitution C A upstream_gene_variant LUSC-KR 17 15537459 15537459 single base substitution C A downstream_gene_variant LUSC-KR 17 15537459 15537459 single base substitution C A intron_variant LUSC-KR 17 15537459 15537459 single base substitution C A upstream_gene_variant LUSC-KR 17 15538044 15538044 single base substitution G C downstream_gene_variant LUSC-KR 17 15538044 15538044 single base substitution G C intron_variant LUSC-KR 17 15538044 15538044 single base substitution G C upstream_gene_variant LUSC-KR 17 15539387 15539387 single base substitution C G downstream_gene_variant LUSC-KR 17 15539387 15539387 single base substitution C G exon_variant LUSC-KR 17 15539387 15539387 single base substitution C G missense_variant R141T 422G>C LUSC-KR 17 15539387 15539387 single base substitution C G missense_variant R145T 434G>C LUSC-KR 17 15539387 15539387 single base substitution C G missense_variant R24T 71G>C LUSC-KR 17 15539387 15539387 single base substitution C G missense_variant R271T 812G>C LUSC-KR 17 15539387 15539387 single base substitution C G missense_variant R55T 164G>C LUSC-KR 17 15539387 15539387 single base substitution C G upstream_gene_variant LUSC-KR 17 15539404 15539404 single base substitution G A downstream_gene_variant LUSC-KR 17 15539404 15539404 single base substitution G A exon_variant LUSC-KR 17 15539404 15539404 single base substitution G A synonymous_variant S135S 405C>T LUSC-KR 17 15539404 15539404 single base substitution G A synonymous_variant S139S 417C>T LUSC-KR 17 15539404 15539404 single base substitution G A synonymous_variant S18S 54C>T LUSC-KR 17 15539404 15539404 single base substitution G A synonymous_variant S265S 795C>T LUSC-KR 17 15539404 15539404 single base substitution G A synonymous_variant S49S 147C>T LUSC-KR 17 15539404 15539404 single base substitution G A upstream_gene_variant LUSC-KR 17 15540724 15540724 single base substitution T C intron_variant LUSC-KR 17 15540724 15540724 single base substitution T C upstream_gene_variant LUSC-KR 17 15540744 15540744 single base substitution A G intron_variant LUSC-KR 17 15540744 15540744 single base substitution A G upstream_gene_variant LUSC-KR 17 15540809 15540809 single base substitution G A intron_variant LUSC-KR 17 15540809 15540809 single base substitution G A upstream_gene_variant LUSC-KR 17 15540821 15540821 single base substitution C G intron_variant LUSC-KR 17 15540821 15540821 single base substitution C G upstream_gene_variant LUSC-KR 17 15540846 15540846 single base substitution A G intron_variant LUSC-KR 17 15540846 15540846 single base substitution A G upstream_gene_variant LUSC-KR 17 15540857 15540857 single base substitution C T intron_variant LUSC-KR 17 15540857 15540857 single base substitution C T upstream_gene_variant LUSC-KR 17 15541122 15541122 single base substitution C G downstream_gene_variant LUSC-KR 17 15541122 15541122 single base substitution C G intron_variant LUSC-KR 17 15541122 15541122 single base substitution C G upstream_gene_variant LUSC-KR 17 15542247 15542247 single base substitution G A downstream_gene_variant LUSC-KR 17 15542247 15542247 single base substitution G A intron_variant LUSC-KR 17 15542247 15542247 single base substitution G A upstream_gene_variant LUSC-KR 17 15546189 15546189 single base substitution G C 5_prime_UTR_variant LUSC-KR 17 15546189 15546189 single base substitution G C intron_variant LUSC-KR 17 15546298 15546298 single base substitution C T intron_variant LUSC-KR 17 15546298 15546298 single base substitution C T upstream_gene_variant LUSC-KR 17 15555796 15555796 single base substitution G T downstream_gene_variant LUSC-KR 17 15555796 15555796 single base substitution G T intron_variant LUSC-KR 17 15567881 15567881 single base substitution C A intron_variant LUSC-KR 17 15568152 15568152 single base substitution C A intron_variant LUSC-KR 17 15568716 15568716 single base substitution A G intron_variant LUSC-KR 17 15574214 15574214 single base substitution A G intron_variant LUSC-KR 17 15574566 15574566 single base substitution T A intron_variant LUSC-KR 17 15574739 15574739 single base substitution G T intron_variant LUSC-KR 17 15576970 15576970 single base substitution T G downstream_gene_variant LUSC-KR 17 15576970 15576970 single base substitution T G intron_variant LUSC-KR 17 15577108 15577108 single base substitution A G downstream_gene_variant LUSC-KR 17 15577108 15577108 single base substitution A G intron_variant LUSC-KR 17 15577515 15577515 single base substitution C G downstream_gene_variant LUSC-KR 17 15577515 15577515 single base substitution C G intron_variant LUSC-KR 17 15580374 15580374 single base substitution T C downstream_gene_variant LUSC-KR 17 15580374 15580374 single base substitution T C intron_variant LUSC-KR 17 15584976 15584976 single base substitution G A downstream_gene_variant LUSC-KR 17 15584976 15584976 single base substitution G A intron_variant LUSC-KR 17 15584976 15584976 single base substitution G A upstream_gene_variant LUSC-KR 17 15584978 15584978 single base substitution C T downstream_gene_variant LUSC-KR 17 15584978 15584978 single base substitution C T intron_variant LUSC-KR 17 15584978 15584978 single base substitution C T upstream_gene_variant LUSC-KR 17 15585000 15585000 single base substitution G C downstream_gene_variant LUSC-KR 17 15585000 15585000 single base substitution G C intron_variant LUSC-KR 17 15585000 15585000 single base substitution G C upstream_gene_variant LUSC-KR 17 15585000 15585000 single base substitution G T downstream_gene_variant LUSC-KR 17 15585000 15585000 single base substitution G T intron_variant LUSC-KR 17 15585000 15585000 single base substitution G T upstream_gene_variant LUSC-KR 17 15585196 15585196 single base substitution T C downstream_gene_variant LUSC-KR 17 15585196 15585196 single base substitution T C intron_variant LUSC-KR 17 15585196 15585196 single base substitution T C upstream_gene_variant LUSC-KR 17 15586150 15586150 single base substitution C T downstream_gene_variant LUSC-KR 17 15586150 15586150 single base substitution C T intron_variant LUSC-KR 17 15586150 15586150 single base substitution C T upstream_gene_variant LUSC-KR 17 15588952 15588952 single base substitution C A upstream_gene_variant LUSC-KR 17 15591627 15591627 single base substitution A T upstream_gene_variant LUSC-KR 17 15591847 15591847 single base substitution C A upstream_gene_variant LUSC-KR 17 15591848 15591848 single base substitution C T upstream_gene_variant LUSC-KR 17 15592044 15592044 single base substitution T G upstream_gene_variant LUSC-US 17 15532053 15532053 single base substitution C T 3_prime_UTR_variant LUSC-US 17 15532053 15532053 single base substitution C T downstream_gene_variant LUSC-US 17 15532053 15532053 single base substitution C T exon_variant LUSC-US 17 15532053 15532053 single base substitution C T intron_variant LUSC-US 17 15532053 15532053 single base substitution C T missense_variant C308Y 923G>A LUSC-US 17 15532053 15532053 single base substitution C T missense_variant C394Y 1181G>A LUSC-US 17 15532053 15532053 single base substitution C T missense_variant C524Y 1571G>A MALY-DE 17 15551934 15551934 single base substitution G C downstream_gene_variant MALY-DE 17 15551934 15551934 single base substitution G C intron_variant MALY-DE 17 15553159 15553159 single base substitution G A downstream_gene_variant MALY-DE 17 15553159 15553159 single base substitution G A intron_variant MALY-DE 17 15559610 15559610 single base substitution T C intron_variant MALY-DE 17 15561662 15561662 single base substitution C T intron_variant MALY-DE 17 15566247 15566247 single base substitution T A intron_variant MALY-DE 17 15573476 15573476 single base substitution G A intron_variant MALY-DE 17 15576565 15576565 single base substitution G A downstream_gene_variant MALY-DE 17 15576565 15576565 single base substitution G A intron_variant MALY-DE 17 15585583 15585584 deletion of <=200bp AT - downstream_gene_variant MALY-DE 17 15585583 15585584 deletion of <=200bp AT - intron_variant MALY-DE 17 15585583 15585584 deletion of <=200bp AT - upstream_gene_variant MALY-DE 17 15588712 15588715 deletion of <=200bp TCTT - upstream_gene_variant MALY-DE 17 15591278 15591278 single base substitution C T upstream_gene_variant MELA-AU 17 15526304 15526304 single base substitution A C downstream_gene_variant MELA-AU 17 15526346 15526346 single base substitution A C downstream_gene_variant MELA-AU 17 15526370 15526370 single base substitution C T downstream_gene_variant MELA-AU 17 15526863 15526863 single base substitution G A downstream_gene_variant MELA-AU 17 15527002 15527002 single base substitution G A downstream_gene_variant MELA-AU 17 15527966 15527966 single base substitution A G downstream_gene_variant MELA-AU 17 15528547 15528547 single base substitution G A downstream_gene_variant MELA-AU 17 15528729 15528729 single base substitution G A downstream_gene_variant MELA-AU 17 15528974 15528974 single base substitution G A downstream_gene_variant MELA-AU 17 15528996 15528996 single base substitution G A downstream_gene_variant MELA-AU 17 15529257 15529257 single base substitution C T downstream_gene_variant MELA-AU 17 15529652 15529652 single base substitution G A downstream_gene_variant MELA-AU 17 15531215 15531215 single base substitution G A downstream_gene_variant MELA-AU 17 15531410 15531410 single base substitution G A 3_prime_UTR_variant MELA-AU 17 15531410 15531410 single base substitution G A downstream_gene_variant MELA-AU 17 15531410 15531410 single base substitution G A intron_variant MELA-AU 17 15532109 15532109 single base substitution G A 3_prime_UTR_variant MELA-AU 17 15532109 15532109 single base substitution G A downstream_gene_variant MELA-AU 17 15532109 15532109 single base substitution G A exon_variant MELA-AU 17 15532109 15532109 single base substitution G A intron_variant MELA-AU 17 15532109 15532109 single base substitution G A synonymous_variant I289I 867C>T MELA-AU 17 15532109 15532109 single base substitution G A synonymous_variant I375I 1125C>T MELA-AU 17 15532109 15532109 single base substitution G A synonymous_variant I505I 1515C>T MELA-AU 17 15532894 15532894 single base substitution T C downstream_gene_variant MELA-AU 17 15532894 15532894 single base substitution T C intron_variant MELA-AU 17 15533173 15533173 single base substitution G A downstream_gene_variant MELA-AU 17 15533173 15533173 single base substitution G A intron_variant MELA-AU 17 15534551 15534551 single base substitution G A downstream_gene_variant MELA-AU 17 15534551 15534551 single base substitution G A intron_variant MELA-AU 17 15535463 15535463 single base substitution G A downstream_gene_variant MELA-AU 17 15535463 15535463 single base substitution G A intron_variant MELA-AU 17 15535463 15535463 single base substitution G A upstream_gene_variant MELA-AU 17 15536372 15536372 single base substitution G A downstream_gene_variant MELA-AU 17 15536372 15536372 single base substitution G A intron_variant MELA-AU 17 15536372 15536372 single base substitution G A upstream_gene_variant MELA-AU 17 15536769 15536769 single base substitution G A downstream_gene_variant MELA-AU 17 15536769 15536769 single base substitution G A intron_variant MELA-AU 17 15536769 15536769 single base substitution G A upstream_gene_variant MELA-AU 17 15536984 15536984 single base substitution G A downstream_gene_variant MELA-AU 17 15536984 15536984 single base substitution G A intron_variant MELA-AU 17 15536984 15536984 single base substitution G A upstream_gene_variant MELA-AU 17 15537505 15537505 single base substitution C T downstream_gene_variant MELA-AU 17 15537505 15537505 single base substitution C T intron_variant MELA-AU 17 15537505 15537505 single base substitution C T upstream_gene_variant MELA-AU 17 15537536 15537536 single base substitution G A downstream_gene_variant MELA-AU 17 15537536 15537536 single base substitution G A intron_variant MELA-AU 17 15537536 15537536 single base substitution G A upstream_gene_variant MELA-AU 17 15537771 15537771 single base substitution C T downstream_gene_variant MELA-AU 17 15537771 15537771 single base substitution C T intron_variant MELA-AU 17 15537771 15537771 single base substitution C T upstream_gene_variant MELA-AU 17 15538058 15538058 single base substitution G A downstream_gene_variant MELA-AU 17 15538058 15538058 single base substitution G A intron_variant MELA-AU 17 15538058 15538058 single base substitution G A upstream_gene_variant MELA-AU 17 15538282 15538282 single base substitution G A downstream_gene_variant MELA-AU 17 15538282 15538282 single base substitution G A intron_variant MELA-AU 17 15538282 15538282 single base substitution G A upstream_gene_variant MELA-AU 17 15538383 15538383 single base substitution G A downstream_gene_variant MELA-AU 17 15538383 15538383 single base substitution G A intron_variant MELA-AU 17 15538383 15538383 single base substitution G A upstream_gene_variant MELA-AU 17 15538567 15538567 single base substitution G A downstream_gene_variant MELA-AU 17 15538567 15538567 single base substitution G A intron_variant MELA-AU 17 15538567 15538567 single base substitution G A upstream_gene_variant MELA-AU 17 15538575 15538575 single base substitution G A downstream_gene_variant MELA-AU 17 15538575 15538575 single base substitution G A intron_variant MELA-AU 17 15538575 15538575 single base substitution G A upstream_gene_variant MELA-AU 17 15539496 15539496 single base substitution G A downstream_gene_variant MELA-AU 17 15539496 15539496 single base substitution G A exon_variant MELA-AU 17 15539496 15539496 single base substitution G A missense_variant L105F 313C>T MELA-AU 17 15539496 15539496 single base substitution G A missense_variant L109F 325C>T MELA-AU 17 15539496 15539496 single base substitution G A missense_variant L19F 55C>T MELA-AU 17 15539496 15539496 single base substitution G A missense_variant L235F 703C>T MELA-AU 17 15539496 15539496 single base substitution G A upstream_gene_variant MELA-AU 17 15539641 15539641 single base substitution G A intron_variant MELA-AU 17 15539641 15539641 single base substitution G A upstream_gene_variant MELA-AU 17 15539692 15539692 single base substitution G A intron_variant MELA-AU 17 15539692 15539692 single base substitution G A upstream_gene_variant MELA-AU 17 15539749 15539749 single base substitution G A intron_variant MELA-AU 17 15539749 15539749 single base substitution G A upstream_gene_variant MELA-AU 17 15540077 15540077 single base substitution A G intron_variant MELA-AU 17 15540077 15540077 single base substitution A G upstream_gene_variant MELA-AU 17 15540358 15540358 single base substitution C T intron_variant MELA-AU 17 15540358 15540358 single base substitution C T upstream_gene_variant MELA-AU 17 15543114 15543114 single base substitution A T downstream_gene_variant MELA-AU 17 15543114 15543114 single base substitution A T intron_variant MELA-AU 17 15543114 15543114 single base substitution A T upstream_gene_variant MELA-AU 17 15543204 15543204 single base substitution C T downstream_gene_variant MELA-AU 17 15543204 15543204 single base substitution C T intron_variant MELA-AU 17 15543204 15543204 single base substitution C T upstream_gene_variant MELA-AU 17 15543686 15543686 single base substitution T C downstream_gene_variant MELA-AU 17 15543686 15543686 single base substitution T C intron_variant MELA-AU 17 15543686 15543686 single base substitution T C upstream_gene_variant MELA-AU 17 15544572 15544572 single base substitution G A downstream_gene_variant MELA-AU 17 15544572 15544572 single base substitution G A intron_variant MELA-AU 17 15544852 15544852 single base substitution G A downstream_gene_variant MELA-AU 17 15544852 15544852 single base substitution G A intron_variant MELA-AU 17 15547072 15547072 single base substitution C T intron_variant MELA-AU 17 15547072 15547072 single base substitution C T upstream_gene_variant MELA-AU 17 15548584 15548584 single base substitution A T intron_variant MELA-AU 17 15548584 15548584 single base substitution A T upstream_gene_variant MELA-AU 17 15548708 15548708 single base substitution A C intron_variant MELA-AU 17 15548708 15548708 single base substitution A C upstream_gene_variant MELA-AU 17 15550361 15550361 single base substitution A G downstream_gene_variant MELA-AU 17 15550361 15550361 single base substitution A G intron_variant MELA-AU 17 15550361 15550361 single base substitution A G upstream_gene_variant MELA-AU 17 15550505 15550505 single base substitution C T downstream_gene_variant MELA-AU 17 15550505 15550505 single base substitution C T intron_variant MELA-AU 17 15550505 15550505 single base substitution C T upstream_gene_variant MELA-AU 17 15551336 15551336 single base substitution G A downstream_gene_variant MELA-AU 17 15551336 15551336 single base substitution G A intron_variant MELA-AU 17 15551336 15551336 single base substitution G A upstream_gene_variant MELA-AU 17 15552053 15552053 single base substitution G A downstream_gene_variant MELA-AU 17 15552053 15552053 single base substitution G A intron_variant MELA-AU 17 15552300 15552300 single base substitution T C downstream_gene_variant MELA-AU 17 15552300 15552300 single base substitution T C intron_variant MELA-AU 17 15552554 15552554 single base substitution G A downstream_gene_variant MELA-AU 17 15552554 15552554 single base substitution G A intron_variant MELA-AU 17 15552869 15552869 single base substitution G A downstream_gene_variant MELA-AU 17 15552869 15552869 single base substitution G A intron_variant MELA-AU 17 15553837 15553837 single base substitution T A downstream_gene_variant MELA-AU 17 15553837 15553837 single base substitution T A intron_variant MELA-AU 17 15554349 15554349 single base substitution G A downstream_gene_variant MELA-AU 17 15554349 15554349 single base substitution G A intron_variant MELA-AU 17 15555244 15555244 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 15555244 15555244 single base substitution G A downstream_gene_variant MELA-AU 17 15555244 15555244 single base substitution G A exon_variant MELA-AU 17 15555244 15555244 single base substitution G A intron_variant MELA-AU 17 15555255 15555255 single base substitution C T 5_prime_UTR_variant MELA-AU 17 15555255 15555255 single base substitution C T downstream_gene_variant MELA-AU 17 15555255 15555255 single base substitution C T exon_variant MELA-AU 17 15555255 15555255 single base substitution C T intron_variant MELA-AU 17 15555816 15555816 single base substitution C T downstream_gene_variant MELA-AU 17 15555816 15555816 single base substitution C T intron_variant MELA-AU 17 15556113 15556113 single base substitution T C downstream_gene_variant MELA-AU 17 15556113 15556113 single base substitution T C intron_variant MELA-AU 17 15556115 15556115 single base substitution C T downstream_gene_variant MELA-AU 17 15556115 15556115 single base substitution C T intron_variant MELA-AU 17 15556257 15556257 single base substitution G A downstream_gene_variant MELA-AU 17 15556257 15556257 single base substitution G A intron_variant MELA-AU 17 15556277 15556277 single base substitution G A downstream_gene_variant MELA-AU 17 15556277 15556277 single base substitution G A intron_variant MELA-AU 17 15558471 15558471 single base substitution G A intron_variant MELA-AU 17 15558568 15558568 single base substitution G A intron_variant MELA-AU 17 15558774 15558774 insertion of <=200bp - CAGC intron_variant MELA-AU 17 15558855 15558855 single base substitution G A intron_variant MELA-AU 17 15559803 15559804 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 15560374 15560374 single base substitution C T intron_variant MELA-AU 17 15560795 15560795 single base substitution C T intron_variant MELA-AU 17 15562349 15562349 single base substitution G T intron_variant MELA-AU 17 15562639 15562639 single base substitution G A intron_variant MELA-AU 17 15563661 15563661 single base substitution G A intron_variant MELA-AU 17 15565694 15565694 single base substitution T G intron_variant MELA-AU 17 15566261 15566261 single base substitution G A intron_variant MELA-AU 17 15566317 15566317 single base substitution G A intron_variant MELA-AU 17 15566738 15566738 single base substitution G A intron_variant MELA-AU 17 15567862 15567862 single base substitution G A intron_variant MELA-AU 17 15567975 15567975 single base substitution C T intron_variant MELA-AU 17 15567978 15567978 single base substitution G A intron_variant MELA-AU 17 15568108 15568108 single base substitution G A intron_variant MELA-AU 17 15568111 15568111 single base substitution G A intron_variant MELA-AU 17 15568475 15568475 single base substitution A G intron_variant MELA-AU 17 15570329 15570330 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 15570781 15570781 single base substitution G A intron_variant MELA-AU 17 15570922 15570922 single base substitution T C intron_variant MELA-AU 17 15571359 15571359 single base substitution C T intron_variant MELA-AU 17 15571415 15571415 single base substitution G A intron_variant MELA-AU 17 15571667 15571667 single base substitution G A intron_variant MELA-AU 17 15572193 15572193 single base substitution C T intron_variant MELA-AU 17 15574302 15574302 deletion of <=200bp T - intron_variant MELA-AU 17 15574430 15574430 single base substitution A T intron_variant MELA-AU 17 15575393 15575393 single base substitution T C intron_variant MELA-AU 17 15576441 15576441 single base substitution G A downstream_gene_variant MELA-AU 17 15576441 15576441 single base substitution G A intron_variant MELA-AU 17 15576513 15576513 single base substitution A C downstream_gene_variant MELA-AU 17 15576513 15576513 single base substitution A C intron_variant MELA-AU 17 15576970 15576970 single base substitution T G downstream_gene_variant MELA-AU 17 15576970 15576970 single base substitution T G intron_variant MELA-AU 17 15577063 15577063 single base substitution C A downstream_gene_variant MELA-AU 17 15577063 15577063 single base substitution C A intron_variant MELA-AU 17 15577166 15577166 single base substitution T A downstream_gene_variant MELA-AU 17 15577166 15577166 single base substitution T A intron_variant MELA-AU 17 15578778 15578778 single base substitution G A downstream_gene_variant MELA-AU 17 15578778 15578778 single base substitution G A intron_variant MELA-AU 17 15580013 15580013 single base substitution T C downstream_gene_variant MELA-AU 17 15580013 15580013 single base substitution T C intron_variant MELA-AU 17 15581178 15581178 single base substitution C T downstream_gene_variant MELA-AU 17 15581178 15581178 single base substitution C T intron_variant MELA-AU 17 15582226 15582226 single base substitution C T downstream_gene_variant MELA-AU 17 15582226 15582226 single base substitution C T intron_variant MELA-AU 17 15582661 15582661 single base substitution G A downstream_gene_variant MELA-AU 17 15582661 15582661 single base substitution G A intron_variant MELA-AU 17 15582880 15582880 single base substitution C T downstream_gene_variant MELA-AU 17 15582880 15582880 single base substitution C T intron_variant MELA-AU 17 15583170 15583170 single base substitution G A downstream_gene_variant MELA-AU 17 15583170 15583170 single base substitution G A intron_variant MELA-AU 17 15585565 15585565 single base substitution G A downstream_gene_variant MELA-AU 17 15585565 15585565 single base substitution G A intron_variant MELA-AU 17 15585565 15585565 single base substitution G A upstream_gene_variant MELA-AU 17 15586080 15586080 single base substitution G A downstream_gene_variant MELA-AU 17 15586080 15586080 single base substitution G A intron_variant MELA-AU 17 15586080 15586080 single base substitution G A upstream_gene_variant MELA-AU 17 15587621 15587621 single base substitution G A 5_prime_UTR_variant MELA-AU 17 15587621 15587621 single base substitution G A exon_variant MELA-AU 17 15587621 15587621 single base substitution G A upstream_gene_variant MELA-AU 17 15587661 15587661 single base substitution C T upstream_gene_variant MELA-AU 17 15588430 15588430 single base substitution G A upstream_gene_variant MELA-AU 17 15588763 15588763 single base substitution T C upstream_gene_variant MELA-AU 17 15589057 15589057 single base substitution C T upstream_gene_variant MELA-AU 17 15589116 15589116 single base substitution C T upstream_gene_variant MELA-AU 17 15590594 15590594 single base substitution C T upstream_gene_variant MELA-AU 17 15590714 15590714 single base substitution C T upstream_gene_variant MELA-AU 17 15590822 15590822 single base substitution T C upstream_gene_variant MELA-AU 17 15591515 15591515 single base substitution C T upstream_gene_variant MELA-AU 17 15591664 15591664 single base substitution G A upstream_gene_variant MELA-AU 17 15591886 15591886 single base substitution T A upstream_gene_variant MELA-AU 17 15591903 15591903 single base substitution A G upstream_gene_variant ORCA-IN 17 15527714 15527714 insertion of <=200bp - C downstream_gene_variant ORCA-IN 17 15537511 15537511 single base substitution C T downstream_gene_variant ORCA-IN 17 15537511 15537511 single base substitution C T intron_variant ORCA-IN 17 15537511 15537511 single base substitution C T upstream_gene_variant ORCA-IN 17 15537676 15537676 single base substitution G T downstream_gene_variant ORCA-IN 17 15537676 15537676 single base substitution G T intron_variant ORCA-IN 17 15537676 15537676 single base substitution G T upstream_gene_variant ORCA-IN 17 15554687 15554687 single base substitution G T downstream_gene_variant ORCA-IN 17 15554687 15554687 single base substitution G T intron_variant ORCA-IN 17 15554687 15554687 single base substitution G T missense_variant F79L 237C>A ORCA-IN 17 15568009 15568009 single base substitution C T intron_variant ORCA-IN 17 15577108 15577108 single base substitution A G downstream_gene_variant ORCA-IN 17 15577108 15577108 single base substitution A G intron_variant OV-AU 17 15533622 15533622 single base substitution C T downstream_gene_variant OV-AU 17 15533622 15533622 single base substitution C T intron_variant OV-AU 17 15553332 15553332 single base substitution G A downstream_gene_variant OV-AU 17 15553332 15553332 single base substitution G A intron_variant OV-AU 17 15554545 15554545 single base substitution T C downstream_gene_variant OV-AU 17 15554545 15554545 single base substitution T C intron_variant OV-AU 17 15554545 15554545 single base substitution T C missense_variant N127D 379A>G OV-AU 17 15567792 15567792 single base substitution G A intron_variant OV-AU 17 15581420 15581420 single base substitution C G downstream_gene_variant OV-AU 17 15581420 15581420 single base substitution C G intron_variant OV-AU 17 15589268 15589268 single base substitution G A upstream_gene_variant PACA-AU 17 15532974 15532974 single base substitution C T downstream_gene_variant PACA-AU 17 15532974 15532974 single base substitution C T intron_variant PACA-AU 17 15534959 15534959 single base substitution G T downstream_gene_variant PACA-AU 17 15534959 15534959 single base substitution G T exon_variant PACA-AU 17 15534959 15534959 single base substitution G T intron_variant PACA-AU 17 15534959 15534959 single base substitution G T missense_variant P115H 344C>A PACA-AU 17 15534959 15534959 single base substitution G T missense_variant P146H 437C>A PACA-AU 17 15534959 15534959 single base substitution G T missense_variant P232H 695C>A PACA-AU 17 15534959 15534959 single base substitution G T missense_variant P362H 1085C>A PACA-AU 17 15534959 15534959 single base substitution G T missense_variant P91T 271C>A PACA-AU 17 15537025 15537025 single base substitution T G downstream_gene_variant PACA-AU 17 15537025 15537025 single base substitution T G intron_variant PACA-AU 17 15537025 15537025 single base substitution T G upstream_gene_variant PACA-AU 17 15541676 15541676 single base substitution G A downstream_gene_variant PACA-AU 17 15541676 15541676 single base substitution G A intron_variant PACA-AU 17 15541676 15541676 single base substitution G A upstream_gene_variant PACA-AU 17 15541716 15541716 single base substitution C T downstream_gene_variant PACA-AU 17 15541716 15541716 single base substitution C T intron_variant PACA-AU 17 15541716 15541716 single base substitution C T upstream_gene_variant PACA-AU 17 15548445 15548445 single base substitution C T intron_variant PACA-AU 17 15548445 15548445 single base substitution C T upstream_gene_variant PACA-AU 17 15561430 15561430 single base substitution A G intron_variant PACA-AU 17 15574076 15574076 single base substitution A C intron_variant PACA-AU 17 15575013 15575036 deletion of <=200bp ATGATGTTAAAATCATGATCCCTG - intron_variant PACA-AU 17 15578171 15578171 single base substitution A G downstream_gene_variant PACA-AU 17 15578171 15578171 single base substitution A G intron_variant PACA-CA 17 15526346 15526346 single base substitution A C downstream_gene_variant PACA-CA 17 15528820 15528820 single base substitution C T downstream_gene_variant PACA-CA 17 15528844 15528844 single base substitution C T downstream_gene_variant PACA-CA 17 15531283 15531283 single base substitution G A 3_prime_UTR_variant PACA-CA 17 15531283 15531283 single base substitution G A downstream_gene_variant PACA-CA 17 15536783 15536783 single base substitution T C downstream_gene_variant PACA-CA 17 15536783 15536783 single base substitution T C intron_variant PACA-CA 17 15536783 15536783 single base substitution T C upstream_gene_variant PACA-CA 17 15538668 15538668 single base substitution G A downstream_gene_variant PACA-CA 17 15538668 15538668 single base substitution G A intron_variant PACA-CA 17 15538668 15538668 single base substitution G A upstream_gene_variant PACA-CA 17 15538765 15538765 single base substitution T C downstream_gene_variant PACA-CA 17 15538765 15538765 single base substitution T C intron_variant PACA-CA 17 15538765 15538765 single base substitution T C upstream_gene_variant PACA-CA 17 15542019 15542019 single base substitution G T downstream_gene_variant PACA-CA 17 15542019 15542019 single base substitution G T intron_variant PACA-CA 17 15542019 15542019 single base substitution G T upstream_gene_variant PACA-CA 17 15542915 15542915 single base substitution C T downstream_gene_variant PACA-CA 17 15542915 15542915 single base substitution C T intron_variant PACA-CA 17 15542915 15542915 single base substitution C T upstream_gene_variant PACA-CA 17 15547456 15547456 single base substitution C A intron_variant PACA-CA 17 15547456 15547456 single base substitution C A upstream_gene_variant PACA-CA 17 15549170 15549170 single base substitution T G intron_variant PACA-CA 17 15549170 15549170 single base substitution T G upstream_gene_variant PACA-CA 17 15550577 15550577 single base substitution C T downstream_gene_variant PACA-CA 17 15550577 15550577 single base substitution C T intron_variant PACA-CA 17 15550577 15550577 single base substitution C T upstream_gene_variant PACA-CA 17 15551383 15551383 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 15551383 15551383 insertion of <=200bp - A intron_variant PACA-CA 17 15551383 15551383 insertion of <=200bp - A upstream_gene_variant PACA-CA 17 15551400 15551400 single base substitution C T downstream_gene_variant PACA-CA 17 15551400 15551400 single base substitution C T intron_variant PACA-CA 17 15551400 15551400 single base substitution C T upstream_gene_variant PACA-CA 17 15552257 15552257 single base substitution G A downstream_gene_variant PACA-CA 17 15552257 15552257 single base substitution G A intron_variant PACA-CA 17 15556531 15556531 single base substitution C T downstream_gene_variant PACA-CA 17 15556531 15556531 single base substitution C T intron_variant PACA-CA 17 15564326 15564326 single base substitution T C intron_variant PACA-CA 17 15574508 15574508 single base substitution G T intron_variant PACA-CA 17 15574922 15574922 single base substitution G A intron_variant PACA-CA 17 15576528 15576528 single base substitution C T downstream_gene_variant PACA-CA 17 15576528 15576528 single base substitution C T intron_variant PACA-CA 17 15582874 15582874 single base substitution C G downstream_gene_variant PACA-CA 17 15582874 15582874 single base substitution C G intron_variant PACA-CA 17 15584071 15584071 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 15584071 15584071 insertion of <=200bp - A intron_variant PACA-CA 17 15585000 15585000 single base substitution G C downstream_gene_variant PACA-CA 17 15585000 15585000 single base substitution G C intron_variant PACA-CA 17 15585000 15585000 single base substitution G C upstream_gene_variant PACA-CA 17 15585000 15585000 single base substitution G T downstream_gene_variant PACA-CA 17 15585000 15585000 single base substitution G T intron_variant PACA-CA 17 15585000 15585000 single base substitution G T upstream_gene_variant PACA-CA 17 15585196 15585196 single base substitution T C downstream_gene_variant PACA-CA 17 15585196 15585196 single base substitution T C intron_variant PACA-CA 17 15585196 15585196 single base substitution T C upstream_gene_variant PACA-CA 17 15585843 15585843 single base substitution G T downstream_gene_variant PACA-CA 17 15585843 15585843 single base substitution G T intron_variant PACA-CA 17 15585843 15585843 single base substitution G T upstream_gene_variant PACA-CA 17 15587120 15587120 single base substitution C T 5_prime_UTR_variant PACA-CA 17 15587120 15587120 single base substitution C T intron_variant PACA-CA 17 15587120 15587120 single base substitution C T upstream_gene_variant PACA-CA 17 15591893 15591893 single base substitution T C upstream_gene_variant PAEN-IT 17 15528434 15528434 single base substitution C T downstream_gene_variant PBCA-DE 17 15553252 15553252 single base substitution C A downstream_gene_variant PBCA-DE 17 15553252 15553252 single base substitution C A intron_variant PBCA-DE 17 15555331 15555331 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 15555331 15555331 insertion of <=200bp - T intron_variant PBCA-DE 17 15557410 15557410 single base substitution C T downstream_gene_variant PBCA-DE 17 15557410 15557410 single base substitution C T intron_variant PBCA-DE 17 15564274 15564274 single base substitution T A intron_variant PBCA-DE 17 15567120 15567120 single base substitution C T intron_variant PBCA-DE 17 15571589 15571589 deletion of <=200bp G - intron_variant PBCA-DE 17 15573761 15573761 single base substitution C T intron_variant PBCA-DE 17 15574630 15574630 insertion of <=200bp - TATA intron_variant PBCA-DE 17 15576970 15576970 single base substitution T G downstream_gene_variant PBCA-DE 17 15576970 15576970 single base substitution T G intron_variant PBCA-DE 17 15583658 15583658 insertion of <=200bp - G downstream_gene_variant PBCA-DE 17 15583658 15583658 insertion of <=200bp - G intron_variant PBCA-DE 17 15588298 15588298 deletion of <=200bp T - upstream_gene_variant PBCA-DE 17 15588416 15588416 single base substitution C T upstream_gene_variant PBCA-DE 17 15591722 15591722 single base substitution T C upstream_gene_variant PRAD-CA 17 15526810 15526810 single base substitution T C downstream_gene_variant PRAD-CA 17 15554216 15554216 single base substitution C A downstream_gene_variant PRAD-CA 17 15554216 15554216 single base substitution C A intron_variant PRAD-CA 17 15566498 15566498 single base substitution C T intron_variant PRAD-CA 17 15568716 15568716 single base substitution A G intron_variant PRAD-CA 17 15588765 15588765 single base substitution T C upstream_gene_variant PRAD-UK 17 15537709 15537709 single base substitution C T downstream_gene_variant PRAD-UK 17 15537709 15537709 single base substitution C T intron_variant PRAD-UK 17 15537709 15537709 single base substitution C T upstream_gene_variant PRAD-UK 17 15552251 15552251 single base substitution C T downstream_gene_variant PRAD-UK 17 15552251 15552251 single base substitution C T intron_variant PRAD-UK 17 15577457 15577457 single base substitution G A downstream_gene_variant PRAD-UK 17 15577457 15577457 single base substitution G A intron_variant PRAD-US 17 15532066 15532066 single base substitution G A 3_prime_UTR_variant PRAD-US 17 15532066 15532066 single base substitution G A downstream_gene_variant PRAD-US 17 15532066 15532066 single base substitution G A exon_variant PRAD-US 17 15532066 15532066 single base substitution G A intron_variant PRAD-US 17 15532066 15532066 single base substitution G A missense_variant H304Y 910C>T PRAD-US 17 15532066 15532066 single base substitution G A missense_variant H390Y 1168C>T PRAD-US 17 15532066 15532066 single base substitution G A missense_variant H520Y 1558C>T RECA-EU 17 15547268 15547268 single base substitution T C intron_variant RECA-EU 17 15547268 15547268 single base substitution T C upstream_gene_variant RECA-EU 17 15551993 15551993 single base substitution A T downstream_gene_variant RECA-EU 17 15551993 15551993 single base substitution A T intron_variant RECA-EU 17 15572852 15572852 single base substitution G A intron_variant RECA-EU 17 15576359 15576359 single base substitution T C downstream_gene_variant RECA-EU 17 15576359 15576359 single base substitution T C intron_variant SKCA-BR 17 15526532 15526532 single base substitution G A downstream_gene_variant SKCA-BR 17 15530708 15530708 single base substitution T A downstream_gene_variant SKCA-BR 17 15530727 15530727 single base substitution G A downstream_gene_variant SKCA-BR 17 15531045 15531045 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 17 15531688 15531688 single base substitution T C 3_prime_UTR_variant SKCA-BR 17 15531688 15531688 single base substitution T C downstream_gene_variant SKCA-BR 17 15531688 15531688 single base substitution T C intron_variant SKCA-BR 17 15534618 15534618 single base substitution T C downstream_gene_variant SKCA-BR 17 15534618 15534618 single base substitution T C intron_variant SKCA-BR 17 15536585 15536585 single base substitution A G downstream_gene_variant SKCA-BR 17 15536585 15536585 single base substitution A G intron_variant SKCA-BR 17 15536585 15536585 single base substitution A G upstream_gene_variant SKCA-BR 17 15536592 15536592 single base substitution C A downstream_gene_variant SKCA-BR 17 15536592 15536592 single base substitution C A intron_variant SKCA-BR 17 15536592 15536592 single base substitution C A upstream_gene_variant SKCA-BR 17 15536767 15536767 single base substitution C T downstream_gene_variant SKCA-BR 17 15536767 15536767 single base substitution C T intron_variant SKCA-BR 17 15536767 15536767 single base substitution C T upstream_gene_variant SKCA-BR 17 15536774 15536774 single base substitution G C downstream_gene_variant SKCA-BR 17 15536774 15536774 single base substitution G C intron_variant SKCA-BR 17 15536774 15536774 single base substitution G C upstream_gene_variant SKCA-BR 17 15536854 15536855 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 17 15536854 15536855 deletion of <=200bp CT - intron_variant SKCA-BR 17 15536854 15536855 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 17 15537194 15537194 single base substitution G A downstream_gene_variant SKCA-BR 17 15537194 15537194 single base substitution G A intron_variant SKCA-BR 17 15537194 15537194 single base substitution G A upstream_gene_variant SKCA-BR 17 15538383 15538383 single base substitution G A downstream_gene_variant SKCA-BR 17 15538383 15538383 single base substitution G A intron_variant SKCA-BR 17 15538383 15538383 single base substitution G A upstream_gene_variant SKCA-BR 17 15539404 15539404 single base substitution G A downstream_gene_variant SKCA-BR 17 15539404 15539404 single base substitution G A exon_variant SKCA-BR 17 15539404 15539404 single base substitution G A synonymous_variant S135S 405C>T SKCA-BR 17 15539404 15539404 single base substitution G A synonymous_variant S139S 417C>T SKCA-BR 17 15539404 15539404 single base substitution G A synonymous_variant S18S 54C>T SKCA-BR 17 15539404 15539404 single base substitution G A synonymous_variant S265S 795C>T SKCA-BR 17 15539404 15539404 single base substitution G A synonymous_variant S49S 147C>T SKCA-BR 17 15539404 15539404 single base substitution G A upstream_gene_variant SKCA-BR 17 15539773 15539773 single base substitution G T intron_variant SKCA-BR 17 15539773 15539773 single base substitution G T upstream_gene_variant SKCA-BR 17 15540410 15540410 single base substitution A C intron_variant SKCA-BR 17 15540410 15540410 single base substitution A C upstream_gene_variant SKCA-BR 17 15540724 15540724 single base substitution T C intron_variant SKCA-BR 17 15540724 15540724 single base substitution T C upstream_gene_variant SKCA-BR 17 15540931 15540931 single base substitution A G intron_variant SKCA-BR 17 15540931 15540931 single base substitution A G upstream_gene_variant SKCA-BR 17 15540934 15540934 single base substitution T G intron_variant SKCA-BR 17 15540934 15540934 single base substitution T G upstream_gene_variant SKCA-BR 17 15541102 15541102 single base substitution G T downstream_gene_variant SKCA-BR 17 15541102 15541102 single base substitution G T intron_variant SKCA-BR 17 15541102 15541102 single base substitution G T upstream_gene_variant SKCA-BR 17 15543653 15543653 single base substitution G A downstream_gene_variant SKCA-BR 17 15543653 15543653 single base substitution G A intron_variant SKCA-BR 17 15543653 15543653 single base substitution G A upstream_gene_variant SKCA-BR 17 15544927 15544927 single base substitution G A downstream_gene_variant SKCA-BR 17 15544927 15544927 single base substitution G A intron_variant SKCA-BR 17 15549994 15549994 single base substitution A G intron_variant SKCA-BR 17 15549994 15549994 single base substitution A G upstream_gene_variant SKCA-BR 17 15551067 15551067 single base substitution C T downstream_gene_variant SKCA-BR 17 15551067 15551067 single base substitution C T intron_variant SKCA-BR 17 15551067 15551067 single base substitution C T upstream_gene_variant SKCA-BR 17 15552489 15552489 single base substitution G A downstream_gene_variant SKCA-BR 17 15552489 15552489 single base substitution G A intron_variant SKCA-BR 17 15556818 15556818 single base substitution G A downstream_gene_variant SKCA-BR 17 15556818 15556818 single base substitution G A intron_variant SKCA-BR 17 15559082 15559082 single base substitution G T intron_variant SKCA-BR 17 15561757 15561757 single base substitution G A intron_variant SKCA-BR 17 15562373 15562373 single base substitution G C intron_variant SKCA-BR 17 15563161 15563161 single base substitution G A intron_variant SKCA-BR 17 15564211 15564213 deletion of <=200bp CAA - intron_variant SKCA-BR 17 15566016 15566016 single base substitution G A intron_variant SKCA-BR 17 15568624 15568624 single base substitution C T intron_variant SKCA-BR 17 15571415 15571415 single base substitution G A intron_variant SKCA-BR 17 15574098 15574098 single base substitution A T intron_variant SKCA-BR 17 15574139 15574139 single base substitution A G intron_variant SKCA-BR 17 15574507 15574507 single base substitution A C intron_variant SKCA-BR 17 15574629 15574629 insertion of <=200bp - GTATA intron_variant SKCA-BR 17 15576500 15576500 single base substitution T C downstream_gene_variant SKCA-BR 17 15576500 15576500 single base substitution T C intron_variant SKCA-BR 17 15576813 15576813 single base substitution G A downstream_gene_variant SKCA-BR 17 15576813 15576813 single base substitution G A intron_variant SKCA-BR 17 15576925 15576926 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 17 15576925 15576926 deletion of <=200bp GA - intron_variant SKCA-BR 17 15576970 15576970 single base substitution T G downstream_gene_variant SKCA-BR 17 15576970 15576970 single base substitution T G intron_variant SKCA-BR 17 15580374 15580374 single base substitution T C downstream_gene_variant SKCA-BR 17 15580374 15580374 single base substitution T C intron_variant SKCA-BR 17 15582086 15582086 single base substitution G A downstream_gene_variant SKCA-BR 17 15582086 15582086 single base substitution G A intron_variant SKCA-BR 17 15582189 15582194 deletion of <=200bp CTCCTT - downstream_gene_variant SKCA-BR 17 15582189 15582194 deletion of <=200bp CTCCTT - intron_variant SKCA-BR 17 15582461 15582461 single base substitution G A downstream_gene_variant SKCA-BR 17 15582461 15582461 single base substitution G A intron_variant SKCA-BR 17 15584611 15584611 single base substitution G A downstream_gene_variant SKCA-BR 17 15584611 15584611 single base substitution G A intron_variant SKCA-BR 17 15584611 15584611 single base substitution G A upstream_gene_variant SKCA-BR 17 15584647 15584647 single base substitution A T downstream_gene_variant SKCA-BR 17 15584647 15584647 single base substitution A T intron_variant SKCA-BR 17 15584647 15584647 single base substitution A T upstream_gene_variant SKCA-BR 17 15588711 15588723 deletion of <=200bp ATCTTTCTTTCTT - upstream_gene_variant SKCA-BR 17 15591278 15591278 single base substitution C T upstream_gene_variant SKCM-US 17 15535885 15535885 single base substitution G C downstream_gene_variant SKCM-US 17 15535885 15535885 single base substitution G C exon_variant SKCM-US 17 15535885 15535885 single base substitution G C intron_variant SKCM-US 17 15535885 15535885 single base substitution G C missense_variant T102S 305C>G SKCM-US 17 15535885 15535885 single base substitution G C missense_variant T188S 563C>G SKCM-US 17 15535885 15535885 single base substitution G C missense_variant T318S 953C>G SKCM-US 17 15535885 15535885 single base substitution G C missense_variant T71S 212C>G SKCM-US 17 15535885 15535885 single base substitution G C upstream_gene_variant SKCM-US 17 15539401 15539401 single base substitution C T downstream_gene_variant SKCM-US 17 15539401 15539401 single base substitution C T exon_variant SKCM-US 17 15539401 15539401 single base substitution C T synonymous_variant K136K 408G>A SKCM-US 17 15539401 15539401 single base substitution C T synonymous_variant K140K 420G>A SKCM-US 17 15539401 15539401 single base substitution C T synonymous_variant K19K 57G>A SKCM-US 17 15539401 15539401 single base substitution C T synonymous_variant K266K 798G>A SKCM-US 17 15539401 15539401 single base substitution C T synonymous_variant K50K 150G>A SKCM-US 17 15539401 15539401 single base substitution C T upstream_gene_variant STAD-US 17 15534998 15534998 single base substitution G A downstream_gene_variant STAD-US 17 15534998 15534998 single base substitution G A exon_variant STAD-US 17 15534998 15534998 single base substitution G A intron_variant STAD-US 17 15534998 15534998 single base substitution G A missense_variant A102V 305C>T STAD-US 17 15534998 15534998 single base substitution G A missense_variant A133V 398C>T STAD-US 17 15534998 15534998 single base substitution G A missense_variant A219V 656C>T STAD-US 17 15534998 15534998 single base substitution G A missense_variant A349V 1046C>T STAD-US 17 15534998 15534998 single base substitution G A missense_variant P78S 232C>T STAD-US 17 15539380 15539380 single base substitution C T downstream_gene_variant STAD-US 17 15539380 15539380 single base substitution C T exon_variant STAD-US 17 15539380 15539380 single base substitution C T synonymous_variant A143A 429G>A STAD-US 17 15539380 15539380 single base substitution C T synonymous_variant A147A 441G>A STAD-US 17 15539380 15539380 single base substitution C T synonymous_variant A26A 78G>A STAD-US 17 15539380 15539380 single base substitution C T synonymous_variant A273A 819G>A STAD-US 17 15539380 15539380 single base substitution C T synonymous_variant A57A 171G>A STAD-US 17 15539380 15539380 single base substitution C T upstream_gene_variant STAD-US 17 15539514 15539514 single base substitution C T downstream_gene_variant STAD-US 17 15539514 15539514 single base substitution C T exon_variant STAD-US 17 15539514 15539514 single base substitution C T missense_variant A103T 307G>A STAD-US 17 15539514 15539514 single base substitution C T missense_variant A13T 37G>A STAD-US 17 15539514 15539514 single base substitution C T missense_variant A229T 685G>A STAD-US 17 15539514 15539514 single base substitution C T missense_variant A99T 295G>A STAD-US 17 15539514 15539514 single base substitution C T upstream_gene_variant STAD-US 17 15539554 15539554 single base substitution A G 5_prime_UTR_variant STAD-US 17 15539554 15539554 single base substitution A G exon_variant STAD-US 17 15539554 15539554 single base substitution A G synonymous_variant A215A 645T>C STAD-US 17 15539554 15539554 single base substitution A G synonymous_variant A85A 255T>C STAD-US 17 15539554 15539554 single base substitution A G synonymous_variant A89A 267T>C STAD-US 17 15539554 15539554 single base substitution A G upstream_gene_variant STAD-US 17 15554406 15554406 single base substitution T C downstream_gene_variant STAD-US 17 15554406 15554406 single base substitution T C intron_variant STAD-US 17 15554406 15554406 single base substitution T C missense_variant E173G 518A>G STAD-US 17 15554526 15554526 single base substitution G A downstream_gene_variant STAD-US 17 15554526 15554526 single base substitution G A intron_variant STAD-US 17 15554526 15554526 single base substitution G A missense_variant A133V 398C>T THCA-SA 17 15531434 15531434 single base substitution T G 3_prime_UTR_variant THCA-SA 17 15531434 15531434 single base substitution T G downstream_gene_variant THCA-SA 17 15531434 15531434 single base substitution T G intron_variant UCEC-US 17 15531954 15531954 single base substitution G A downstream_gene_variant UCEC-US 17 15531954 15531954 single base substitution G A intron_variant UCEC-US 17 15531954 15531954 single base substitution G A missense_variant P341L 1022C>T UCEC-US 17 15531954 15531954 single base substitution G A missense_variant P427L 1280C>T UCEC-US 17 15531954 15531954 single base substitution G A missense_variant P557L 1670C>T UCEC-US 17 15532179 15532179 single base substitution T C 3_prime_UTR_variant UCEC-US 17 15532179 15532179 single base substitution T C downstream_gene_variant UCEC-US 17 15532179 15532179 single base substitution T C exon_variant UCEC-US 17 15532179 15532179 single base substitution T C intron_variant UCEC-US 17 15532179 15532179 single base substitution T C missense_variant D266G 797A>G UCEC-US 17 15532179 15532179 single base substitution T C missense_variant D352G 1055A>G UCEC-US 17 15532179 15532179 single base substitution T C missense_variant D482G 1445A>G UCEC-US 17 15535906 15535906 single base substitution C T downstream_gene_variant UCEC-US 17 15535906 15535906 single base substitution C T exon_variant UCEC-US 17 15535906 15535906 single base substitution C T intron_variant UCEC-US 17 15535906 15535906 single base substitution C T missense_variant R181H 542G>A UCEC-US 17 15535906 15535906 single base substitution C T missense_variant R311H 932G>A UCEC-US 17 15535906 15535906 single base substitution C T missense_variant R64H 191G>A UCEC-US 17 15535906 15535906 single base substitution C T missense_variant R95H 284G>A UCEC-US 17 15535906 15535906 single base substitution C T upstream_gene_variant UCEC-US 17 15535954 15535954 single base substitution G A downstream_gene_variant UCEC-US 17 15535954 15535954 single base substitution G A exon_variant UCEC-US 17 15535954 15535954 single base substitution G A intron_variant UCEC-US 17 15535954 15535954 single base substitution G A missense_variant T165I 494C>T UCEC-US 17 15535954 15535954 single base substitution G A missense_variant T169I 506C>T UCEC-US 17 15535954 15535954 single base substitution G A missense_variant T295I 884C>T UCEC-US 17 15535954 15535954 single base substitution G A missense_variant T48I 143C>T UCEC-US 17 15535954 15535954 single base substitution G A missense_variant T79I 236C>T UCEC-US 17 15535954 15535954 single base substitution G A upstream_gene_variant UCEC-US 17 15539418 15539418 single base substitution C T downstream_gene_variant UCEC-US 17 15539418 15539418 single base substitution C T exon_variant UCEC-US 17 15539418 15539418 single base substitution C T missense_variant E131K 391G>A UCEC-US 17 15539418 15539418 single base substitution C T missense_variant E135K 403G>A UCEC-US 17 15539418 15539418 single base substitution C T missense_variant E14K 40G>A UCEC-US 17 15539418 15539418 single base substitution C T missense_variant E261K 781G>A UCEC-US 17 15539418 15539418 single base substitution C T missense_variant E45K 133G>A UCEC-US 17 15539418 15539418 single base substitution C T upstream_gene_variant UCEC-US 17 15554676 15554676 single base substitution T C downstream_gene_variant UCEC-US 17 15554676 15554676 single base substitution T C intron_variant UCEC-US 17 15554676 15554676 single base substitution T C missense_variant D83G 248A>G UCEC-US 17 15554750 15554750 single base substitution C T downstream_gene_variant UCEC-US 17 15554750 15554750 single base substitution C T intron_variant UCEC-US 17 15554750 15554750 single base substitution C T synonymous_variant Q58Q 174G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3090 COSM4671277 c.505C>T p.R169C Substitution - Missense 17:15651105-15651105 - CSCC-57-T COSM4468016 c.1520C>T p.S507F Substitution - Missense 17:15628790-15628790 - SCC-9 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - TCGA-CK-5912-01 COSM1381072 c.121G>A p.E41K Substitution - Missense 17:15651489-15651489 - TCGA-AA-3812-01 COSM293856 c.1143A>G p.T381T Substitution - coding silent 17:15629167-15629167 - HCC42T COSM1609864 c.1391A>G p.N464S Substitution - Missense 17:15628919-15628919 - CSCC-10-T COSM4468016 c.1520C>T p.S507F Substitution - Missense 17:15628790-15628790 - UD-SCC-2 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - PT23_1 COSM4468016 c.1520C>T p.S507F Substitution - Missense 17:15628790-15628790 - LUAD-5V8LT COSM401683 c.320C>T p.P107L Substitution - Missense 17:15651290-15651290 - T2940 COSM4671272 c.1610C>A p.S537Y Substitution - Missense 17:15628700-15628700 - TCGA-A5-A0R7-01 COSM975786 c.1490T>C p.V497A Substitution - Missense 17:15628820-15628820 - MZ7-mel COSM24046 c.367G>A p.V123M Substitution - Missense 17:15651243-15651243 - ACINAR03 COSM1733453 c.1283G>T p.R428M Substitution - Missense 17:15629027-15629027 - TCGA-Q1-A73O-01 COSM4835877 c.825C>T p.I275I Substitution - coding silent 17:15636060-15636060 - ccRCC-93 COSM1664675 c.1012G>A p.E338K Substitution - Missense 17:15632512-15632512 - TCGA-UC-A7PF-01 COSM4829969 c.946G>A p.E316K Substitution - Missense 17:15632578-15632578 - T2269 COSM4671275 c.945G>A p.T315T Substitution - coding silent 17:15632579-15632579 - KM12 COSM2738721 c.225C>T p.V75V Substitution - coding silent 17:15651385-15651385 - WSU-HN8 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - Pat_16_B COSM5851872 c.1609T>C p.S537P Substitution - Missense 17:15628701-15628701 - UM-SCC-2 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - SJRHB012 COSM3737522 c.1598C>A p.A533D Substitution - Missense 17:15628712-15628712 - SNUH_G45_S1 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - ESCC_BICR_005T COSM5439114 c.1187C>A p.T396N Substitution - Missense 17:15629123-15629123 - TCGA-AX-A05S-01 COSM975797 c.174G>A p.Q58Q Substitution - coding silent 17:15651436-15651436 - BICR_22 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - CN-AML-CR-61-Dx COSM5428555 c.520-9C>T p.? Unknown 17:15642825-15642825 - ZZUFHECRKL-G062T COSM3765993 c.420C>T p.A140A Substitution - coding silent 17:15651190-15651190 - T3503 COSM4671273 c.1351C>T p.R451W Substitution - Missense 17:15628959-15628959 - TCGA-EB-A44Q-06 COSM3514513 c.953C>G p.T318S Substitution - Missense 17:15632571-15632571 - TCGA-BR-6801-01 COSM4064113 c.819G>A p.A273A Substitution - coding silent 17:15636066-15636066 - TCGA-FD-A3SS-01 COSM3795287 c.1452G>A p.E484E Substitution - coding silent 17:15628858-15628858 - TCGA-AM-5820-01 COSM3691370 c.907C>A p.L303M Substitution - Missense 17:15632617-15632617 - ZZUFHECRKL-G047T COSM5433806 c.795C>T p.S265S Substitution - coding silent 17:15636090-15636090 - Pat_06_A COSM5851876 c.395C>T p.P132L Substitution - Missense 17:15651215-15651215 - Pat_16_A COSM5851877 c.199delG p.D67fs*21 Deletion - Frameshift 17:15651411-15651411 - PD24308a COSM2738696 c.812G>C p.R271T Substitution - Missense 17:15636073-15636073 - CHC205T COSM3765993 c.420C>T p.A140A Substitution - coding silent 17:15651190-15651190 - TCGA-D8-A1XK-01 COSM3818870 c.873T>C p.T291T Substitution - coding silent 17:15632651-15632651 - CSCC-49-T COSM4528117 c.1511G>A p.G504E Substitution - Missense 17:15628799-15628799 - 2461402 COSM5415864 c.137G>A p.G46D Substitution - Missense 17:15651473-15651473 - TCGA-H9-7775-01 COSM1470901 c.1558C>T p.H520Y Substitution - Missense 17:15628752-15628752 - SCC-25 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - TCGA-D1-A16N-01 COSM975789 c.884C>T p.T295I Substitution - Missense 17:15632640-15632640 - 2461404 COSM5415864 c.137G>A p.G46D Substitution - Missense 17:15651473-15651473 - TCGA-EK-A2R9-01 COSM4822969 c.1081G>C p.E361Q Substitution - Missense 17:15631649-15631649 - Pat_16_A COSM5851872 c.1609T>C p.S537P Substitution - Missense 17:15628701-15628701 - Pat_37_B COSM5851878 c.38_50del13 p.P13fs*71 Deletion - Frameshift 17:15651560-15651572 - OSCC-GB_00070111 COSM3712211 c.237C>A p.F79L Substitution - Missense 17:15651373-15651373 - NOKSI COSM2738696 c.812G>C p.R271T Substitution - Missense 17:15636073-15636073 - S01578 COSM5670354 c.1687G>T p.A563S Substitution - Missense 17:15628623-15628623 - TCGA-AA-A02R-01 COSM5126878 c.449G>A p.C150Y Substitution - Missense 17:15651161-15651161 - UM-SCC-47 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - 7T COSM3712211 c.237C>A p.F79L Substitution - Missense 17:15651373-15651373 - TCGA-AM-5821-01 COSM3691370 c.907C>A p.L303M Substitution - Missense 17:15632617-15632617 - TCGA-AP-A0LM-01 COSM975785 c.1670C>T p.P557L Substitution - Missense 17:15628640-15628640 - Capan-1 COSM328377 c.1253T>G p.V418G Substitution - Missense 17:15629057-15629057 - TCGA-B0-4841-01 COSM3361992 c.773G>A p.R258K Substitution - Missense 17:15636112-15636112 - CSCC-38-T COSM4467108 c.1470C>T p.G490G Substitution - coding silent 17:15628840-15628840 - PD22363a COSM5768010 c.1148A>C p.H383P Substitution - Missense 17:15629162-15629162 - TCGA-FS-A1ZW-06 COSM3514514 c.798G>A p.K266K Substitution - coding silent 17:15636087-15636087 - TCGA-AK-3428-01 COSM3361992 c.773G>A p.R258K Substitution - Missense 17:15636112-15636112 - D28 COSM5546009 c.1405C>T p.L469F Substitution - Missense 17:15628905-15628905 - SJRHB012_S COSM3737522 c.1598C>A p.A533D Substitution - Missense 17:15628712-15628712 - Sample_1 COSM3765993 c.420C>T p.A140A Substitution - coding silent 17:15651190-15651190 - TCGA-AM-5821-01 COSM3755279 c.1477C>T p.R493W Substitution - Missense 17:15628833-15628833 - Pat_60_B COSM5851873 c.1144G>A p.A382T Substitution - Missense 17:15629166-15629166 - SC_9089 COSM3361992 c.773G>A p.R258K Substitution - Missense 17:15636112-15636112 - TCGA-CM-6162-01 COSM1381066 c.1058G>A p.R353H Substitution - Missense 17:15631672-15631672 - TCGA-CW-5588-01 COSM472334 c.152T>C p.L51P Substitution - Missense 17:15651458-15651458 - TCGA-BR-A4QL-01 COSM4064117 c.398C>T p.A133V Substitution - Missense 17:15651212-15651212 - WSU-HN6 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - T80 COSM1177514 c.1319delC p.Y441fs*4 Deletion - Frameshift 17:15628991-15628991 - SJRHB012_R COSM3737522 c.1598C>A p.A533D Substitution - Missense 17:15628712-15628712 - ESCC_BICR_050T COSM5440041 c.338A>G p.K113R Substitution - Missense 17:15651272-15651272 - TCGA-AP-A0LM-01 COSM975790 c.781G>A p.E261K Substitution - Missense 17:15636104-15636104 - TCGA-AP-A0LM-01 COSM975788 c.932G>A p.R311H Substitution - Missense 17:15632592-15632592 - OV207 COSM252889 c.1348G>A p.D450N Substitution - Missense 17:15628962-15628962 - 2461403 COSM5415864 c.137G>A p.G46D Substitution - Missense 17:15651473-15651473 - CHC1052T COSM2738696 c.812G>C p.R271T Substitution - Missense 17:15636073-15636073 - TCGA-D7-6526-01 COSM4064115 c.645T>C p.A215A Substitution - coding silent 17:15636240-15636240 - TCGA-BR-8382-01 COSM4064112 c.1046C>T p.A349V Substitution - Missense 17:15631684-15631684 - TCGA-13-1410-01 COSM73061 c.1024G>T p.D342Y Substitution - Missense 17:15631706-15631706 - ESCC_BICR_045T COSM5441481 c.639G>A p.A213A Substitution - coding silent 17:15636246-15636246 - Pat_59_B COSM5851875 c.620C>T p.S207L Substitution - Missense 17:15636265-15636265 - TCGA-BT-A3PJ-01 COSM3795288 c.1132G>A p.D378N Substitution - Missense 17:15629178-15629178 - BD124T COSM5493535 c.1437G>A p.W479* Substitution - Nonsense 17:15628873-15628873 - TCGA-B5-A11E-01 COSM975787 c.1445A>G p.D482G Substitution - Missense 17:15628865-15628865 - TARGET-30-PAPZFW COSM1288616 c.1545C>T p.T515T Substitution - coding silent 17:15628765-15628765 - CHC892T COSM4797410 c.71G>A p.S24N Substitution - Missense 17:15651539-15651539 - WSU-HN30 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - SNUH_G45_S1 COSM4000023 c.1347C>T p.I449I Substitution - coding silent 17:15628963-15628963 - Pat_76_A COSM5851874 c.931C>T p.R311C Substitution - Missense 17:15632593-15632593 - TCGA-AA-3864-01 COSM5114609 c.1646G>T p.G549V Substitution - Missense 17:15628664-15628664 - TCGA-A8-A094-01 COSM436072 c.1016-1G>C p.? Unknown 17:15631715-15631715 - BHY COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - sysucc-1512T COSM2738696 c.812G>C p.R271T Substitution - Missense 17:15636073-15636073 - SB_06 COSM4064113 c.819G>A p.A273A Substitution - coding silent 17:15636066-15636066 - SNUH_G76_S1 COSM4417246 c.1416C>T p.N472N Substitution - coding silent 17:15628894-15628894 - C4-2B COSM238608 c.922T>C p.S308P Substitution - Missense 17:15632602-15632602 - U343 COSM5712774 c.631G>T p.V211F Substitution - Missense 17:15636254-15636254 - ccRCC-103 COSM1665818 c.1410delA p.Q470fs*42 Deletion - Frameshift 17:15628900-15628900 - cSCCP4 COSM139051 c.1261C>T p.Q421* Substitution - Nonsense 17:15629049-15629049 - sysucc-1135T COSM5479935 c.1578T>G p.F526L Substitution - Missense 17:15628732-15628732 - GC8_T COSM148197 c.363G>T p.E121D Substitution - Missense 17:15651247-15651247 - TCGA-AX-A0J0-01 COSM975796 c.248A>G p.D83G Substitution - Missense 17:15651362-15651362 - SNUH_G76_S1 COSM148197 c.363G>T p.E121D Substitution - Missense 17:15651247-15651247 - T2940 COSM4671276 c.780C>T p.A260A Substitution - coding silent 17:15636105-15636105 - CHC892T COSM4797410 c.71G>A p.S24N Substitution - Missense 17:15651539-15651539 - TCGA-BR-6452-01 COSM4064114 c.685G>A p.A229T Substitution - Missense 17:15636200-15636200 - UM-SCC-17B COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - HCC42 COSM1609864 c.1391A>G p.N464S Substitution - Missense 17:15628919-15628919 - T3094 COSM4671274 c.1197G>A p.T399T Substitution - coding silent 17:15629113-15629113 - sysucc-882T COSM975785 c.1670C>T p.P557L Substitution - Missense 17:15628640-15628640 - TCGA-59-2348-01 COSM79081 c.923C>A p.S308* Substitution - Nonsense 17:15632601-15632601 - TCGA-NH-A5IV-01 COSM5182866 c.438G>A p.Q146Q Substitution - coding silent 17:15651172-15651172 - TCGA-BR-4370-01 COSM4064116 c.518A>G p.E173G Substitution - Missense 17:15651092-15651092 - Pat_76_B COSM5851874 c.931C>T p.R311C Substitution - Missense 17:15632593-15632593 - CHC205T COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - CHC1052T COSM2738696 c.812G>C p.R271T Substitution - Missense 17:15636073-15636073 - AOCS-155-3-5 COSM3983270 c.379A>G p.N127D Substitution - Missense 17:15651231-15651231 - TCGA-22-1016-01 COSM704933 c.1571G>A p.C524Y Substitution - Missense 17:15628739-15628739 - NOKSI COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - ORL-48 COSM3765992 c.1682G>T p.G561V Substitution - Missense 17:15628628-15628628 - CSCC-38-T COSM4507198 c.739C>T p.Q247* Substitution - Nonsense 17:15636146-15636146 - TCGA-36-2530-01 COSM1324143 c.743C>G p.A248G Substitution - Missense 17:15636142-15636142 - 8066037 COSM4387751 c.1085C>A p.P362H Substitution - Missense 17:15631645-15631645 - LUAD-NYU408 COSM374232 c.1115C>T p.A372V Substitution - Missense 17:15629195-15629195 - BD8T COSM5499590 c.340C>G p.L114V Substitution - Missense 17:15651270-15651270 - PR-00-1165 COSM247977 c.1127C>T p.T376M Substitution - Missense 17:15629183-15629183 - SNUH_G45_S1 COSM3765993 c.420C>T p.A140A Substitution - coding silent 17:15651190-15651190 - TCGA-FG-A60J-01 COSM3969835 c.1165C>T p.Q389* Substitution - Nonsense 17:15629145-15629145 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.123534 17p11.2 609505

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.P491Lfs*57 c.1472delC 17 15519090 CLL A G Missense p.L51P c.152T>C 17 15554772 RCCC A G Missense p.Y328H c.982T>C 17 15535856 LUAD A T IntronicSNV . c.2778-3218T>A 17 15480715 PIA C A Missense p.D342Y c.1024G>T 17 15535020 OV C A Missense p.E238D c.714G>T 17 15539485 LUAD C A SpliceAcceptorSNV . c.2053-1G>T 17 15510998 LGG CC TT Missense p.G309S c.924_925delinsAA 17 15535913 CM C G Missense p.G561R c.1681G>C 17 15517267 HNSC C G Missense p.S671T c.2012G>C 17 15516055 BRCA C G SpliceAcceptorSNV . c.1016-1G>C 17 15535029 BRCA C T 3-UTRSNV . c.2859+262G>A 17 15477154 HC C T IntronicSNV . c.1-32181G>A 17 15587104 HC C T IntronicSNV . c.1436-3753G>A 17 15522876 CM C T Missense p.C524Y c.1571G>A 17 15532053 LUSC C T Missense p.D378N c.1132G>A 17 15532492 BLCA C T Missense p.D651N c.1951G>A 17 15516116 CM C T Missense p.E524K c.1570G>A 17 15518989 CM C T Missense p.E704K c.2110G>A 17 15510940 CM C T Missense p.E71K c.211G>A 17 15554713 LUAD C T Missense p.G904D c.2711G>A 17 15498128 COREAD C T Missense p.M672I c.2016G>A 17 15516051 RCCC C T Missense p.R760Q c.2279G>A 17 15508621 BRCA C T Nonsense p.W679* c.2036G>A 17 15516031 LUSC G A IntronicSNV . c.1436-3754C>T 17 15522877 ESCA G A Missense p.P516S c.1546C>T 17 15519013 CM G A Missense p.P663L c.1988C>T 17 15516079 CM G A Missense p.R542W c.1624C>T 17 15517324 CM G A Missense p.T295I c.884C>T 17 15535954 UCEC G A Missense p.T445I c.1334C>T 17 15532290 CM G C Missense p.H804Q c.2412C>G 17 15501919 OV G C Nonsense p.S899* c.2696C>G 17 15498143 HNSC GG AT Missense p.A520D c.1559_1560delinsAT 17 15518999 CM G T Nonsense p.S308* c.923C>A 17 15535915 OV T A IntronicSNV . c.1436-3815A>T 17 15522938 CM T C IntronicSNV . c.1-22396A>G 17 15577319 CLL T C Missense p.E173G c.518A>G 17 15554406 STAD T C Missense p.Y509C c.1526A>G 17 15532098 HNSC T G SpliceAcceptorSNV . c.1930-2A>C 17 15516139 LUAD