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 5 176333038 176333038 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:176333038G>C c.1923C>G c.(1921-1923)atC>atG p.I641M BLCA 5 176335533 176335533 + Silent SNP C C T TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr5:176335533C>T c.1839G>A c.(1837-1839)aaG>aaA p.K613K BLCA 5 176370462 176370462 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr5:176370462C>T c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K BLCA 5 176378563 176378563 + Missense_Mutation SNP G G C TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr5:176378563G>C c.1355C>G c.(1354-1356)tCc>tGc p.S452C BLCA 5 176396246 176396246 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr5:176396246G>C c.510C>G c.(508-510)atC>atG p.I170M BLCA 5 176409576 176409576 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr5:176409576G>A c.41C>T c.(40-42)tCt>tTt p.S14F BRCA 5 176396604 176396604 + Missense_Mutation SNP T T C TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 g.chr5:176396604T>C c.461A>G c.(460-462)gAa>gGa p.E154G CESC 5 176395779 176395779 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 g.chr5:176395779G>C c.977C>G c.(976-978)cCt>cGt p.P326R CHOL 5 176396234 176396234 + Silent SNP G G A TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr5:176396234G>A c.522C>T c.(520-522)aaC>aaT p.N174N COAD 5 176332331 176332331 + Silent SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:176332331A>G c.2112T>C c.(2110-2112)ggT>ggC p.G704G COAD 5 176334115 176334115 + Splice_Site SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:176334115C>T c.1912G>A c.(1912-1914)Gat>Aat p.D638N COAD 5 176395631 176395631 + Silent SNP A A G TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr5:176395631A>G c.1125T>C c.(1123-1125)gaT>gaC p.D375D COAD 5 176396009 176396009 + Silent SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr5:176396009A>G c.747T>C c.(745-747)ggT>ggC p.G249G COAD 5 176396700 176396700 + Missense_Mutation SNP C C A TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr5:176396700C>A c.365G>T c.(364-366)cGg>cTg p.R122L COAD 5 176396701 176396701 + Missense_Mutation SNP G G A TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr5:176396701G>A c.364C>T c.(364-366)Cgg>Tgg p.R122W COAD 5 176397750 176397750 + Missense_Mutation SNP C C A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr5:176397750C>A c.350G>T c.(349-351)aGc>aTc p.S117I COAD 5 176402431 176402431 + Silent SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr5:176402431A>G c.198T>C c.(196-198)aaT>aaC p.N66N COAD 5 176402449 176402449 + Silent SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:176402449C>A c.180G>T c.(178-180)acG>acT p.T60T COAD 5 176409473 176409473 + Silent SNP T T C TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr5:176409473T>C c.144A>G c.(142-144)ggA>ggG p.G48G COAD 5 176409473 176409473 + Silent SNP T T C TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr5:176409473T>C c.144A>G c.(142-144)ggA>ggG p.G48G COAD 5 176409473 176409473 + Silent SNP T T C TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr5:176409473T>C c.144A>G c.(142-144)ggA>ggG p.G48G COAD 5 176409475 176409475 + Missense_Mutation SNP C C T TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr5:176409475C>T c.142G>A c.(142-144)Gga>Aga p.G48R COAD 5 176409475 176409475 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr5:176409475C>T c.142G>A c.(142-144)Gga>Aga p.G48R COAD 5 176409536 176409536 + Silent SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr5:176409536A>G c.81T>C c.(79-81)tcT>tcC p.S27S COADREAD 5 176332331 176332331 + Silent SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:176332331A>G c.2112T>C c.(2110-2112)ggT>ggC p.G704G COADREAD 5 176334115 176334115 + Splice_Site SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:176334115C>T c.1912G>A c.(1912-1914)Gat>Aat p.D638N COADREAD 5 176395631 176395631 + Silent SNP A A G TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr5:176395631A>G c.1125T>C c.(1123-1125)gaT>gaC p.D375D COADREAD 5 176395702 176395702 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:176395702C>A c.1054G>T c.(1054-1056)Gat>Tat p.D352Y COADREAD 5 176396009 176396009 + Silent SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr5:176396009A>G c.747T>C c.(745-747)ggT>ggC p.G249G COADREAD 5 176396700 176396700 + Missense_Mutation SNP C C A TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr5:176396700C>A c.365G>T c.(364-366)cGg>cTg p.R122L COADREAD 5 176396700 176396700 + Missense_Mutation SNP C C T TCGA-AG-A032-01A-01W-A00E-09 TCGA-AG-A032-10A-01W-A00E-09 g.chr5:176396700C>T c.365G>A c.(364-366)cGg>cAg p.R122Q COADREAD 5 176396701 176396701 + Missense_Mutation SNP G G A TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr5:176396701G>A c.364C>T c.(364-366)Cgg>Tgg p.R122W COADREAD 5 176396701 176396701 + Missense_Mutation SNP G G A TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr5:176396701G>A c.364C>T c.(364-366)Cgg>Tgg p.R122W COADREAD 5 176397750 176397750 + Missense_Mutation SNP C C A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr5:176397750C>A c.350G>T c.(349-351)aGc>aTc p.S117I COADREAD 5 176402431 176402431 + Silent SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr5:176402431A>G c.198T>C c.(196-198)aaT>aaC p.N66N COADREAD 5 176402449 176402449 + Silent SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:176402449C>A c.180G>T c.(178-180)acG>acT p.T60T COADREAD 5 176409473 176409473 + Silent SNP T T C TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr5:176409473T>C c.144A>G c.(142-144)ggA>ggG p.G48G COADREAD 5 176409473 176409473 + Silent SNP T T C TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr5:176409473T>C c.144A>G c.(142-144)ggA>ggG p.G48G COADREAD 5 176409473 176409473 + Silent SNP T T C TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr5:176409473T>C c.144A>G c.(142-144)ggA>ggG p.G48G COADREAD 5 176409475 176409475 + Missense_Mutation SNP C C T TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr5:176409475C>T c.142G>A c.(142-144)Gga>Aga p.G48R COADREAD 5 176409475 176409475 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr5:176409475C>T c.142G>A c.(142-144)Gga>Aga p.G48R COADREAD 5 176409536 176409536 + Silent SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr5:176409536A>G c.81T>C c.(79-81)tcT>tcC p.S27S HNSC 5 176334156 176334156 + Missense_Mutation SNP C C T TCGA-CQ-A4CB-01A-11D-A25D-08 TCGA-CQ-A4CB-10A-01D-A25E-08 g.chr5:176334156C>T c.1871G>A c.(1870-1872)cGa>cAa p.R624Q HNSC 5 176370346 176370346 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 g.chr5:176370346C>T c.1587G>A c.(1585-1587)gaG>gaA p.E529E HNSC 5 176395738 176395738 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr5:176395738C>G c.1018G>C c.(1018-1020)Gag>Cag p.E340Q HNSC 5 176396024 176396024 + Silent SNP G G A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr5:176396024G>A c.732C>T c.(730-732)ctC>ctT p.L244L HNSC 5 176396609 176396609 + Silent SNP G G T TCGA-CN-5361-01A-01D-1434-08 TCGA-CN-5361-10A-01D-1434-08 g.chr5:176396609G>T c.456C>A c.(454-456)ctC>ctA p.L152L HNSC 5 176397841 176397841 + Missense_Mutation SNP G G C TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr5:176397841G>C c.259C>G c.(259-261)Ctg>Gtg p.L87V KIPAN 5 176332369 176332369 + Silent SNP A A G TCGA-BP-5170-01A-01D-1429-08 TCGA-BP-5170-11A-01D-1429-08 g.chr5:176332369A>G c.2074T>C c.(2074-2076)Tta>Cta p.L692L KIPAN 5 176338345 176338345 + Missense_Mutation SNP C C A TCGA-B0-4814-01A-01D-1361-10 TCGA-B0-4814-11A-01D-1361-10 g.chr5:176338345C>A c.1643G>T c.(1642-1644)gGg>gTg p.G548V KIPAN 5 176382976 176382976 + Silent SNP T T C TCGA-CJ-4893-01A-01D-1373-10 TCGA-CJ-4893-11A-01D-1373-10 g.chr5:176382976T>C c.1323A>G c.(1321-1323)gaA>gaG p.E441E KIPAN 5 176395660 176395663 + Frame_Shift_Del DEL CCCT CCCT - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr5:176395660_176395663delCCCT c.1093_1096delAGGG c.(1093-1098)agggcafs p.RA365fs KIPAN 5 176395811 176395811 + Silent SNP A A T TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr5:176395811A>T c.945T>A c.(943-945)ctT>ctA p.L315L KIPAN 5 176402397 176402397 + Splice_Site SNP G G A TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr5:176402397G>A c.232C>T c.(232-234)Cag>Tag p.Q78* KIRC 5 176332369 176332369 + Silent SNP A A G TCGA-BP-5170-01A-01D-1429-08 TCGA-BP-5170-11A-01D-1429-08 g.chr5:176332369A>G c.2074T>C c.(2074-2076)Tta>Cta p.L692L KIRC 5 176338345 176338345 + Missense_Mutation SNP C C A TCGA-B0-4814-01A-01D-1361-10 TCGA-B0-4814-11A-01D-1361-10 g.chr5:176338345C>A c.1643G>T c.(1642-1644)gGg>gTg p.G548V KIRC 5 176382976 176382976 + Silent SNP T T C TCGA-CJ-4893-01A-01D-1373-10 TCGA-CJ-4893-11A-01D-1373-10 g.chr5:176382976T>C c.1323A>G c.(1321-1323)gaA>gaG p.E441E KIRC 5 176395660 176395663 + Frame_Shift_Del DEL CCCT CCCT - TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr5:176395660_176395663delCCCT c.1093_1096delAGGG c.(1093-1098)agggcafs p.RA365fs KIRC 5 176402397 176402397 + Splice_Site SNP G G A TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr5:176402397G>A c.232C>T c.(232-234)Cag>Tag p.Q78* KIRP 5 176395811 176395811 + Silent SNP A A T TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr5:176395811A>T c.945T>A c.(943-945)ctT>ctA p.L315L LIHC 5 176396191 176396191 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr5:176396191delT c.565delA c.(565-567)actfs p.T189fs LIHC 5 176396709 176396709 + Splice_Site SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr5:176396709T>C c.e5-2 LIHC 5 176409596 176409596 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr5:176409596delT c.21delA c.(19-21)aaafs p.K7fs LUAD 5 176332314 176332314 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr5:176332314T>A c.2129A>T c.(2128-2130)aAa>aTa p.K710I LUAD 5 176338362 176338362 + Silent SNP C C T TCGA-MP-A4TD-01A-32D-A25L-08 TCGA-MP-A4TD-10A-01D-A25L-08 g.chr5:176338362C>T c.1626G>A c.(1624-1626)aaG>aaA p.K542K LUAD 5 176338368 176338368 + Silent SNP C C T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr5:176338368C>T c.1620G>A c.(1618-1620)gaG>gaA p.E540E LUAD 5 176370372 176370372 + Missense_Mutation SNP C C T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr5:176370372C>T c.1561G>A c.(1561-1563)Gcc>Acc p.A521T LUSC 5 176334156 176334156 + Missense_Mutation SNP C C A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr5:176334156C>A c.1871G>T c.(1870-1872)cGa>cTa p.R624L OV 5 176338311 176338311 + Splice_Site SNP C C T TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 g.chr5:176338311C>T c.e11+1 OV 5 176395727 176395727 + Missense_Mutation SNP A A C TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr5:176395727A>C c.1029T>G c.(1027-1029)agT>agG p.S343R OV 5 176396700 176396700 + Missense_Mutation SNP C C T TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 g.chr5:176396700C>T c.365G>A c.(364-366)cGg>cAg p.R122Q OV 5 176409537 176409537 + Missense_Mutation SNP G G T TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 g.chr5:176409537G>T c.80C>A c.(79-81)tCt>tAt p.S27Y PAAD 5 176370364 176370364 + Silent SNP G G A TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 g.chr5:176370364G>A c.1569C>T c.(1567-1569)taC>taT p.Y523Y PRAD 5 176395642 176395642 + Missense_Mutation SNP T T C TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 g.chr5:176395642T>C c.1114A>G c.(1114-1116)Aaa>Gaa p.K372E PRAD 5 176396017 176396017 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 g.chr5:176396017C>A c.739G>T c.(739-741)Gtc>Ttc p.V247F READ 5 176395702 176395702 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:176395702C>A c.1054G>T c.(1054-1056)Gat>Tat p.D352Y READ 5 176396700 176396700 + Missense_Mutation SNP C C T TCGA-AG-A032-01A-01W-A00E-09 TCGA-AG-A032-10A-01W-A00E-09 g.chr5:176396700C>T c.365G>A c.(364-366)cGg>cAg p.R122Q READ 5 176396701 176396701 + Missense_Mutation SNP G G A TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr5:176396701G>A c.364C>T c.(364-366)Cgg>Tgg p.R122W SKCM 5 176332391 176332391 + Silent SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr5:176332391G>A c.2052C>T c.(2050-2052)tcC>tcT p.S684S SKCM 5 176332394 176332394 + Silent SNP A A C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr5:176332394A>C c.2049T>G c.(2047-2049)gtT>gtG p.V683V SKCM 5 176334117 176334117 + Missense_Mutation SNP G G A TCGA-FS-A4FB-06A-11D-A25O-08 TCGA-FS-A4FB-10B-01D-A25O-08 g.chr5:176334117G>A c.1910C>T c.(1909-1911)tCa>tTa p.S637L SKCM 5 176378527 176378527 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:176378527G>A c.1391C>T c.(1390-1392)cCa>cTa p.P464L SKCM 5 176378527 176378527 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr5:176378527G>T c.1391C>A c.(1390-1392)cCa>cAa p.P464Q SKCM 5 176396036 176396036 + Silent SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr5:176396036A>G c.720T>C c.(718-720)ggT>ggC p.G240G SKCM 5 176396235 176396235 + Missense_Mutation SNP T T A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 g.chr5:176396235T>A c.521A>T c.(520-522)aAc>aTc p.N174I SKCM 5 176396646 176396646 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr5:176396646G>A c.419C>T c.(418-420)tCc>tTc p.S140F

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 5 176370462 176370462 single base substitution C T 3_prime_UTR_variant BLCA-US 5 176370462 176370462 single base substitution C T exon_variant BLCA-US 5 176370462 176370462 single base substitution C T missense_variant E325K 973G>A BLCA-US 5 176370462 176370462 single base substitution C T missense_variant E491K 1471G>A BLCA-US 5 176396246 176396246 single base substitution G C 3_prime_UTR_variant BLCA-US 5 176396246 176396246 single base substitution G C downstream_gene_variant BLCA-US 5 176396246 176396246 single base substitution G C intron_variant BLCA-US 5 176396246 176396246 single base substitution G C missense_variant I170M 510C>G BLCA-US 5 176396246 176396246 single base substitution G C upstream_gene_variant BLCA-US 5 176409576 176409576 single base substitution G A exon_variant BLCA-US 5 176409576 176409576 single base substitution G A missense_variant S14F 41C>T BLCA-US 5 176409576 176409576 single base substitution G A upstream_gene_variant BRCA-EU 5 176328798 176328798 single base substitution A C downstream_gene_variant BRCA-EU 5 176330713 176330713 single base substitution G A downstream_gene_variant BRCA-EU 5 176330859 176330859 single base substitution G A downstream_gene_variant BRCA-EU 5 176332909 176332909 single base substitution C G downstream_gene_variant BRCA-EU 5 176332909 176332909 single base substitution C G exon_variant BRCA-EU 5 176332909 176332909 single base substitution C G intron_variant BRCA-EU 5 176333371 176333371 single base substitution T A downstream_gene_variant BRCA-EU 5 176333371 176333371 single base substitution T A intron_variant BRCA-EU 5 176333371 176333371 single base substitution T A upstream_gene_variant BRCA-EU 5 176333438 176333438 single base substitution G A downstream_gene_variant BRCA-EU 5 176333438 176333438 single base substitution G A intron_variant BRCA-EU 5 176333438 176333438 single base substitution G A upstream_gene_variant BRCA-EU 5 176333506 176333506 single base substitution C A downstream_gene_variant BRCA-EU 5 176333506 176333506 single base substitution C A intron_variant BRCA-EU 5 176333506 176333506 single base substitution C A upstream_gene_variant BRCA-EU 5 176334248 176334248 single base substitution G A downstream_gene_variant BRCA-EU 5 176334248 176334248 single base substitution G A exon_variant BRCA-EU 5 176334248 176334248 single base substitution G A intron_variant BRCA-EU 5 176334248 176334248 single base substitution G A upstream_gene_variant BRCA-EU 5 176334353 176334370 deletion of <=200bp ATGAAGAGAATACATCGC - downstream_gene_variant BRCA-EU 5 176334353 176334370 deletion of <=200bp ATGAAGAGAATACATCGC - intron_variant BRCA-EU 5 176334353 176334370 deletion of <=200bp ATGAAGAGAATACATCGC - upstream_gene_variant BRCA-EU 5 176335416 176335416 single base substitution G C downstream_gene_variant BRCA-EU 5 176335416 176335416 single base substitution G C intron_variant BRCA-EU 5 176335416 176335416 single base substitution G C upstream_gene_variant BRCA-EU 5 176335784 176335784 single base substitution C T intron_variant BRCA-EU 5 176335784 176335784 single base substitution C T upstream_gene_variant BRCA-EU 5 176337605 176337605 deletion of <=200bp T - intron_variant BRCA-EU 5 176337605 176337605 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 176337991 176337991 single base substitution G T intron_variant BRCA-EU 5 176337991 176337991 single base substitution G T upstream_gene_variant BRCA-EU 5 176339307 176339310 deletion of <=200bp AAAT - intron_variant BRCA-EU 5 176339307 176339310 deletion of <=200bp AAAT - upstream_gene_variant BRCA-EU 5 176339928 176339928 single base substitution C G intron_variant BRCA-EU 5 176340302 176340302 single base substitution C A intron_variant BRCA-EU 5 176341882 176341882 single base substitution C A intron_variant BRCA-EU 5 176342078 176342078 single base substitution A C intron_variant BRCA-EU 5 176343317 176343317 single base substitution G A intron_variant BRCA-EU 5 176343387 176343387 single base substitution G C intron_variant BRCA-EU 5 176343995 176344036 deletion of <=200bp TTATATATACAAAGAAGGGAGTTTTTACAGAATGACAAGTGG - intron_variant BRCA-EU 5 176344442 176344442 single base substitution G A intron_variant BRCA-EU 5 176346561 176346561 single base substitution C A intron_variant BRCA-EU 5 176346907 176346907 single base substitution C G intron_variant BRCA-EU 5 176348204 176348204 single base substitution T A intron_variant BRCA-EU 5 176349583 176349583 single base substitution G C intron_variant BRCA-EU 5 176351710 176351710 single base substitution C G intron_variant BRCA-EU 5 176351866 176351866 single base substitution C A intron_variant BRCA-EU 5 176352081 176352081 single base substitution G A intron_variant BRCA-EU 5 176354566 176354566 deletion of <=200bp A - intron_variant BRCA-EU 5 176354731 176354731 single base substitution G A intron_variant BRCA-EU 5 176354756 176354756 single base substitution G C intron_variant BRCA-EU 5 176355190 176355190 single base substitution T A intron_variant BRCA-EU 5 176356780 176356780 single base substitution C T intron_variant BRCA-EU 5 176358997 176358997 single base substitution A C intron_variant BRCA-EU 5 176359158 176359158 single base substitution T G intron_variant BRCA-EU 5 176359788 176359788 deletion of <=200bp C - intron_variant BRCA-EU 5 176361591 176361591 single base substitution G A intron_variant BRCA-EU 5 176363510 176363510 single base substitution C G intron_variant BRCA-EU 5 176363719 176363719 single base substitution G C intron_variant BRCA-EU 5 176363721 176363721 single base substitution A G intron_variant BRCA-EU 5 176365989 176365989 single base substitution C G intron_variant BRCA-EU 5 176367222 176367222 single base substitution G A intron_variant BRCA-EU 5 176367736 176367736 deletion of <=200bp A - intron_variant BRCA-EU 5 176371792 176371792 single base substitution G A intron_variant BRCA-EU 5 176372562 176372562 single base substitution G A intron_variant BRCA-EU 5 176376119 176376119 single base substitution T A intron_variant BRCA-EU 5 176376281 176376281 deletion of <=200bp A - intron_variant BRCA-EU 5 176379806 176379806 deletion of <=200bp A - intron_variant BRCA-EU 5 176379851 176379851 single base substitution A T intron_variant BRCA-EU 5 176381164 176381164 single base substitution C G intron_variant BRCA-EU 5 176381343 176381343 single base substitution C A intron_variant BRCA-EU 5 176381428 176381428 single base substitution G T intron_variant BRCA-EU 5 176383215 176383215 single base substitution G A intron_variant BRCA-EU 5 176383329 176383329 single base substitution G C intron_variant BRCA-EU 5 176383754 176383754 single base substitution G A intron_variant BRCA-EU 5 176383966 176383966 single base substitution C T intron_variant BRCA-EU 5 176384231 176384231 single base substitution C T intron_variant BRCA-EU 5 176384534 176384534 single base substitution G C intron_variant BRCA-EU 5 176386056 176386056 single base substitution G T intron_variant BRCA-EU 5 176386499 176386499 single base substitution C G intron_variant BRCA-EU 5 176391516 176391516 single base substitution C A downstream_gene_variant BRCA-EU 5 176391516 176391516 single base substitution C A intron_variant BRCA-EU 5 176391609 176391609 single base substitution A G downstream_gene_variant BRCA-EU 5 176391609 176391609 single base substitution A G intron_variant BRCA-EU 5 176392571 176392571 single base substitution G A downstream_gene_variant BRCA-EU 5 176392571 176392571 single base substitution G A intron_variant BRCA-EU 5 176394310 176394310 single base substitution G C downstream_gene_variant BRCA-EU 5 176394310 176394310 single base substitution G C intron_variant BRCA-EU 5 176395165 176395165 single base substitution G C downstream_gene_variant BRCA-EU 5 176395165 176395165 single base substitution G C intron_variant BRCA-EU 5 176395292 176395292 single base substitution G A downstream_gene_variant BRCA-EU 5 176395292 176395292 single base substitution G A intron_variant BRCA-EU 5 176397192 176397192 single base substitution G C downstream_gene_variant BRCA-EU 5 176397192 176397192 single base substitution G C exon_variant BRCA-EU 5 176397192 176397192 single base substitution G C intron_variant BRCA-EU 5 176397192 176397192 single base substitution G C upstream_gene_variant BRCA-EU 5 176397259 176397259 single base substitution T C downstream_gene_variant BRCA-EU 5 176397259 176397259 single base substitution T C exon_variant BRCA-EU 5 176397259 176397259 single base substitution T C intron_variant BRCA-EU 5 176397259 176397259 single base substitution T C upstream_gene_variant BRCA-EU 5 176397573 176397573 single base substitution T C downstream_gene_variant BRCA-EU 5 176397573 176397573 single base substitution T C exon_variant BRCA-EU 5 176397573 176397573 single base substitution T C intron_variant BRCA-EU 5 176397573 176397573 single base substitution T C upstream_gene_variant BRCA-EU 5 176397900 176397900 single base substitution C A downstream_gene_variant BRCA-EU 5 176397900 176397900 single base substitution C A intron_variant BRCA-EU 5 176397900 176397900 single base substitution C A upstream_gene_variant BRCA-EU 5 176398735 176398735 single base substitution C T downstream_gene_variant BRCA-EU 5 176398735 176398735 single base substitution C T intron_variant BRCA-EU 5 176398735 176398735 single base substitution C T upstream_gene_variant BRCA-EU 5 176399669 176399669 single base substitution G A downstream_gene_variant BRCA-EU 5 176399669 176399669 single base substitution G A intron_variant BRCA-EU 5 176399669 176399669 single base substitution G A upstream_gene_variant BRCA-EU 5 176400076 176400076 single base substitution C T downstream_gene_variant BRCA-EU 5 176400076 176400076 single base substitution C T intron_variant BRCA-EU 5 176400076 176400076 single base substitution C T upstream_gene_variant BRCA-EU 5 176401448 176401448 single base substitution A G downstream_gene_variant BRCA-EU 5 176401448 176401448 single base substitution A G intron_variant BRCA-EU 5 176402208 176402208 single base substitution G A downstream_gene_variant BRCA-EU 5 176402208 176402208 single base substitution G A intron_variant BRCA-EU 5 176403999 176403999 deletion of <=200bp G - intron_variant BRCA-EU 5 176404000 176404000 single base substitution G A intron_variant BRCA-EU 5 176404224 176404224 single base substitution C T intron_variant BRCA-EU 5 176404242 176404242 single base substitution A G intron_variant BRCA-EU 5 176406506 176406506 single base substitution A G downstream_gene_variant BRCA-EU 5 176406506 176406506 single base substitution A G intron_variant BRCA-EU 5 176407732 176407732 single base substitution G C downstream_gene_variant BRCA-EU 5 176407732 176407732 single base substitution G C intron_variant BRCA-EU 5 176407732 176407732 single base substitution G C upstream_gene_variant BRCA-EU 5 176407750 176407750 single base substitution T C downstream_gene_variant BRCA-EU 5 176407750 176407750 single base substitution T C intron_variant BRCA-EU 5 176407750 176407750 single base substitution T C upstream_gene_variant BRCA-EU 5 176408451 176408451 single base substitution C T downstream_gene_variant BRCA-EU 5 176408451 176408451 single base substitution C T intron_variant BRCA-EU 5 176408451 176408451 single base substitution C T upstream_gene_variant BRCA-EU 5 176409003 176409003 single base substitution A T downstream_gene_variant BRCA-EU 5 176409003 176409003 single base substitution A T intron_variant BRCA-EU 5 176409003 176409003 single base substitution A T upstream_gene_variant BRCA-EU 5 176409769 176409769 single base substitution T C intron_variant BRCA-EU 5 176409769 176409769 single base substitution T C upstream_gene_variant BRCA-EU 5 176411378 176411378 single base substitution G A intron_variant BRCA-EU 5 176411378 176411378 single base substitution G A upstream_gene_variant BRCA-EU 5 176412120 176412120 single base substitution T A intron_variant BRCA-EU 5 176412120 176412120 single base substitution T A upstream_gene_variant BRCA-EU 5 176414864 176414864 single base substitution G A intron_variant BRCA-EU 5 176416213 176416213 single base substitution G T intron_variant BRCA-EU 5 176416453 176416453 single base substitution G A intron_variant BRCA-EU 5 176416482 176416482 single base substitution G A intron_variant BRCA-EU 5 176417853 176417853 single base substitution A T intron_variant BRCA-EU 5 176418370 176418370 single base substitution G T intron_variant BRCA-EU 5 176418418 176418418 single base substitution G A intron_variant BRCA-EU 5 176418916 176418916 single base substitution G C intron_variant BRCA-EU 5 176419656 176419656 single base substitution A T intron_variant BRCA-EU 5 176419890 176419890 single base substitution T C intron_variant BRCA-EU 5 176423130 176423130 single base substitution T C intron_variant BRCA-EU 5 176424447 176424447 single base substitution A C intron_variant BRCA-EU 5 176425183 176425183 single base substitution G C intron_variant BRCA-EU 5 176425539 176425539 single base substitution C A intron_variant BRCA-EU 5 176427181 176427181 single base substitution A G intron_variant BRCA-EU 5 176427226 176427226 single base substitution A G intron_variant BRCA-EU 5 176427558 176427558 single base substitution A T intron_variant BRCA-EU 5 176429663 176429663 single base substitution G A intron_variant BRCA-EU 5 176430113 176430113 deletion of <=200bp A - intron_variant BRCA-EU 5 176431444 176431444 deletion of <=200bp T - intron_variant BRCA-EU 5 176432553 176432553 single base substitution G C intron_variant BRCA-EU 5 176434251 176434251 single base substitution G C intron_variant BRCA-EU 5 176434251 176434251 single base substitution G C upstream_gene_variant BRCA-EU 5 176434656 176434656 single base substitution A G intron_variant BRCA-EU 5 176434656 176434656 single base substitution A G upstream_gene_variant BRCA-EU 5 176435705 176435705 single base substitution C G intron_variant BRCA-EU 5 176435705 176435705 single base substitution C G upstream_gene_variant BRCA-EU 5 176435980 176435980 single base substitution C T intron_variant BRCA-EU 5 176435980 176435980 single base substitution C T upstream_gene_variant BRCA-EU 5 176436030 176436030 single base substitution A T intron_variant BRCA-EU 5 176436030 176436030 single base substitution A T upstream_gene_variant BRCA-EU 5 176436803 176436803 single base substitution A C intron_variant BRCA-EU 5 176436803 176436803 single base substitution A C upstream_gene_variant BRCA-EU 5 176437756 176437756 single base substitution T A intron_variant BRCA-EU 5 176437756 176437756 single base substitution T A upstream_gene_variant BRCA-EU 5 176440911 176440911 single base substitution C T intron_variant BRCA-EU 5 176442117 176442117 single base substitution G A intron_variant BRCA-EU 5 176442471 176442471 single base substitution C T intron_variant BRCA-EU 5 176442982 176442982 single base substitution C T intron_variant BRCA-EU 5 176444080 176444080 single base substitution G A intron_variant BRCA-EU 5 176444088 176444088 single base substitution G A intron_variant BRCA-EU 5 176445253 176445253 single base substitution G A intron_variant BRCA-EU 5 176445577 176445577 single base substitution G A intron_variant BRCA-EU 5 176445814 176445814 single base substitution G A intron_variant BRCA-EU 5 176446609 176446609 single base substitution C G intron_variant BRCA-EU 5 176448159 176448159 single base substitution A T intron_variant BRCA-EU 5 176448642 176448642 single base substitution G A intron_variant BRCA-EU 5 176449515 176449515 insertion of <=200bp - G 5_prime_UTR_variant BRCA-EU 5 176449515 176449515 insertion of <=200bp - G exon_variant BRCA-EU 5 176449687 176449687 single base substitution C T upstream_gene_variant BRCA-EU 5 176450003 176450003 single base substitution G A upstream_gene_variant BRCA-EU 5 176450642 176450642 single base substitution G C upstream_gene_variant BRCA-EU 5 176452138 176452138 single base substitution C T upstream_gene_variant BRCA-EU 5 176452688 176452688 single base substitution C G upstream_gene_variant BRCA-EU 5 176452869 176452869 single base substitution G C upstream_gene_variant BRCA-EU 5 176453578 176453578 single base substitution G T upstream_gene_variant BRCA-EU 5 176453830 176453830 single base substitution G A upstream_gene_variant BRCA-FR 5 176328126 176328126 single base substitution C T downstream_gene_variant BRCA-FR 5 176334248 176334248 single base substitution G A downstream_gene_variant BRCA-FR 5 176334248 176334248 single base substitution G A exon_variant BRCA-FR 5 176334248 176334248 single base substitution G A intron_variant BRCA-FR 5 176334248 176334248 single base substitution G A upstream_gene_variant BRCA-FR 5 176337991 176337991 single base substitution G T intron_variant BRCA-FR 5 176337991 176337991 single base substitution G T upstream_gene_variant BRCA-FR 5 176344442 176344442 single base substitution G A intron_variant BRCA-FR 5 176346561 176346561 single base substitution C A intron_variant BRCA-FR 5 176346907 176346907 single base substitution C G intron_variant BRCA-FR 5 176354731 176354731 single base substitution G A intron_variant BRCA-FR 5 176397573 176397573 single base substitution T C downstream_gene_variant BRCA-FR 5 176397573 176397573 single base substitution T C exon_variant BRCA-FR 5 176397573 176397573 single base substitution T C intron_variant BRCA-FR 5 176397573 176397573 single base substitution T C upstream_gene_variant BRCA-FR 5 176416453 176416453 single base substitution G A intron_variant BRCA-FR 5 176416482 176416482 single base substitution G A intron_variant BRCA-FR 5 176417853 176417853 single base substitution A T intron_variant BRCA-FR 5 176425539 176425539 single base substitution C A intron_variant BRCA-FR 5 176434251 176434251 single base substitution G C intron_variant BRCA-FR 5 176434251 176434251 single base substitution G C upstream_gene_variant BRCA-FR 5 176434656 176434656 single base substitution A G intron_variant BRCA-FR 5 176434656 176434656 single base substitution A G upstream_gene_variant BRCA-FR 5 176442471 176442471 single base substitution C T intron_variant BRCA-FR 5 176452869 176452869 single base substitution G C upstream_gene_variant BRCA-FR 5 176453830 176453830 single base substitution G A upstream_gene_variant BRCA-UK 5 176339199 176339199 single base substitution G C intron_variant BRCA-UK 5 176339199 176339199 single base substitution G C upstream_gene_variant BRCA-UK 5 176350649 176350649 single base substitution G C intron_variant BRCA-UK 5 176363510 176363510 single base substitution C G intron_variant BRCA-UK 5 176376119 176376119 single base substitution T A intron_variant BRCA-UK 5 176386939 176386939 single base substitution G T intron_variant BRCA-UK 5 176444088 176444088 single base substitution G A intron_variant BRCA-US 5 176396604 176396604 single base substitution T C downstream_gene_variant BRCA-US 5 176396604 176396604 single base substitution T C exon_variant BRCA-US 5 176396604 176396604 single base substitution T C intron_variant BRCA-US 5 176396604 176396604 single base substitution T C missense_variant E154G 461A>G BRCA-US 5 176396604 176396604 single base substitution T C upstream_gene_variant BTCA-JP 5 176333126 176333126 single base substitution C T downstream_gene_variant BTCA-JP 5 176333126 176333126 single base substitution C T exon_variant BTCA-JP 5 176333126 176333126 single base substitution C T intron_variant BTCA-JP 5 176338121 176338121 single base substitution G A intron_variant BTCA-JP 5 176338121 176338121 single base substitution G A upstream_gene_variant BTCA-JP 5 176370377 176370377 single base substitution C T 3_prime_UTR_variant BTCA-JP 5 176370377 176370377 single base substitution C T exon_variant BTCA-JP 5 176370377 176370377 single base substitution C T missense_variant R353Q 1058G>A BTCA-JP 5 176370377 176370377 single base substitution C T missense_variant R519Q 1556G>A BTCA-JP 5 176378662 176378662 single base substitution A T intron_variant BTCA-JP 5 176396292 176396292 single base substitution C T downstream_gene_variant BTCA-JP 5 176396292 176396292 single base substitution C T intron_variant BTCA-JP 5 176396292 176396292 single base substitution C T missense_variant G155D 464G>A BTCA-JP 5 176396292 176396292 single base substitution C T splice_region_variant BTCA-JP 5 176396292 176396292 single base substitution C T upstream_gene_variant CESC-US 5 176395779 176395779 single base substitution G C 3_prime_UTR_variant CESC-US 5 176395779 176395779 single base substitution G C downstream_gene_variant CESC-US 5 176395779 176395779 single base substitution G C exon_variant CESC-US 5 176395779 176395779 single base substitution G C intron_variant CESC-US 5 176395779 176395779 single base substitution G C missense_variant P326R 977C>G CLLE-ES 5 176351273 176351273 single base substitution C T intron_variant CLLE-ES 5 176357073 176357073 single base substitution T C intron_variant CLLE-ES 5 176360868 176360868 single base substitution A G intron_variant CLLE-ES 5 176378990 176378990 single base substitution A G intron_variant CLLE-ES 5 176404224 176404224 single base substitution C T intron_variant CLLE-ES 5 176405993 176405993 single base substitution G C downstream_gene_variant CLLE-ES 5 176405993 176405993 single base substitution G C intron_variant CLLE-ES 5 176421805 176421805 single base substitution T A intron_variant COAD-US 5 176332331 176332331 single base substitution A G 3_prime_UTR_variant COAD-US 5 176332331 176332331 single base substitution A G downstream_gene_variant COAD-US 5 176332331 176332331 single base substitution A G exon_variant COAD-US 5 176332331 176332331 single base substitution A G synonymous_variant G538G 1614T>C COAD-US 5 176332331 176332331 single base substitution A G synonymous_variant G704G 2112T>C COAD-US 5 176332331 176332331 single base substitution A G synonymous_variant G705G 2115T>C COAD-US 5 176334115 176334115 single base substitution C T downstream_gene_variant COAD-US 5 176334115 176334115 single base substitution C T missense_variant D472N 1414G>A COAD-US 5 176334115 176334115 single base substitution C T missense_variant D638N 1912G>A COAD-US 5 176334115 176334115 single base substitution C T missense_variant D639N 1915G>A COAD-US 5 176334115 176334115 single base substitution C T splice_region_variant COAD-US 5 176334115 176334115 single base substitution C T upstream_gene_variant COAD-US 5 176335525 176335525 deletion of <=200bp T - downstream_gene_variant COAD-US 5 176335525 176335525 deletion of <=200bp T - frameshift_variant K450 COAD-US 5 176335525 176335525 deletion of <=200bp T - frameshift_variant K616 COAD-US 5 176335525 176335525 deletion of <=200bp T - frameshift_variant K617 COAD-US 5 176335525 176335525 deletion of <=200bp T - splice_region_variant COAD-US 5 176335525 176335525 deletion of <=200bp T - upstream_gene_variant COAD-US 5 176370402 176370402 single base substitution A G 3_prime_UTR_variant COAD-US 5 176370402 176370402 single base substitution A G exon_variant COAD-US 5 176370402 176370402 single base substitution A G missense_variant C345R 1033T>C COAD-US 5 176370402 176370402 single base substitution A G missense_variant C511R 1531T>C COAD-US 5 176382995 176382995 single base substitution G A 3_prime_UTR_variant COAD-US 5 176382995 176382995 single base substitution G A exon_variant COAD-US 5 176382995 176382995 single base substitution G A missense_variant P269L 806C>T COAD-US 5 176382995 176382995 single base substitution G A missense_variant P435L 1304C>T COAD-US 5 176395631 176395631 single base substitution A G 3_prime_UTR_variant COAD-US 5 176395631 176395631 single base substitution A G downstream_gene_variant COAD-US 5 176395631 176395631 single base substitution A G exon_variant COAD-US 5 176395631 176395631 single base substitution A G intron_variant COAD-US 5 176395631 176395631 single base substitution A G synonymous_variant D375D 1125T>C COAD-US 5 176396009 176396009 single base substitution A G 3_prime_UTR_variant COAD-US 5 176396009 176396009 single base substitution A G downstream_gene_variant COAD-US 5 176396009 176396009 single base substitution A G intron_variant COAD-US 5 176396009 176396009 single base substitution A G synonymous_variant G249G 747T>C COAD-US 5 176396009 176396009 single base substitution A G upstream_gene_variant COAD-US 5 176402401 176402401 single base substitution G A downstream_gene_variant COAD-US 5 176402401 176402401 single base substitution G A exon_variant COAD-US 5 176402401 176402401 single base substitution G A synonymous_variant I76I 228C>T COAD-US 5 176402449 176402449 single base substitution C A exon_variant COAD-US 5 176402449 176402449 single base substitution C A synonymous_variant T60T 180G>T COCA-CN 5 176328678 176328678 single base substitution T C downstream_gene_variant COCA-CN 5 176332239 176332239 single base substitution A C 3_prime_UTR_variant COCA-CN 5 176332239 176332239 single base substitution A C downstream_gene_variant COCA-CN 5 176332239 176332239 single base substitution A C exon_variant COCA-CN 5 176332996 176332996 single base substitution G A downstream_gene_variant COCA-CN 5 176332996 176332996 single base substitution G A exon_variant COCA-CN 5 176332996 176332996 single base substitution G A intron_variant COCA-CN 5 176333071 176333071 single base substitution A G downstream_gene_variant COCA-CN 5 176333071 176333071 single base substitution A G exon_variant COCA-CN 5 176333071 176333071 single base substitution A G intron_variant COCA-CN 5 176333116 176333116 single base substitution C A downstream_gene_variant COCA-CN 5 176333116 176333116 single base substitution C A exon_variant COCA-CN 5 176333116 176333116 single base substitution C A intron_variant COCA-CN 5 176338118 176338118 single base substitution A G intron_variant COCA-CN 5 176338118 176338118 single base substitution A G upstream_gene_variant COCA-CN 5 176338153 176338153 single base substitution A G intron_variant COCA-CN 5 176338153 176338153 single base substitution A G upstream_gene_variant COCA-CN 5 176338405 176338405 single base substitution A T intron_variant COCA-CN 5 176338405 176338405 single base substitution A T upstream_gene_variant COCA-CN 5 176342761 176342761 single base substitution G T intron_variant COCA-CN 5 176355867 176355867 single base substitution G A intron_variant COCA-CN 5 176355888 176355888 single base substitution C G intron_variant COCA-CN 5 176378535 176378535 single base substitution T G 3_prime_UTR_variant COCA-CN 5 176378535 176378535 single base substitution T G exon_variant COCA-CN 5 176378535 176378535 single base substitution T G missense_variant E295D 885A>C COCA-CN 5 176378535 176378535 single base substitution T G missense_variant E461D 1383A>C COCA-CN 5 176380496 176380496 single base substitution T C intron_variant COCA-CN 5 176396292 176396292 single base substitution C T downstream_gene_variant COCA-CN 5 176396292 176396292 single base substitution C T intron_variant COCA-CN 5 176396292 176396292 single base substitution C T missense_variant G155D 464G>A COCA-CN 5 176396292 176396292 single base substitution C T splice_region_variant COCA-CN 5 176396292 176396292 single base substitution C T upstream_gene_variant COCA-CN 5 176396357 176396357 single base substitution T G downstream_gene_variant COCA-CN 5 176396357 176396357 single base substitution T G intron_variant COCA-CN 5 176396357 176396357 single base substitution T G upstream_gene_variant COCA-CN 5 176396678 176396678 single base substitution G C downstream_gene_variant COCA-CN 5 176396678 176396678 single base substitution G C exon_variant COCA-CN 5 176396678 176396678 single base substitution G C intron_variant COCA-CN 5 176396678 176396678 single base substitution G C synonymous_variant T129T 387C>G COCA-CN 5 176396678 176396678 single base substitution G C upstream_gene_variant COCA-CN 5 176444531 176444531 single base substitution G T intron_variant COCA-CN 5 176447431 176447431 single base substitution G A intron_variant EOPC-DE 5 176334931 176334931 single base substitution T A downstream_gene_variant EOPC-DE 5 176334931 176334931 single base substitution T A intron_variant EOPC-DE 5 176334931 176334931 single base substitution T A upstream_gene_variant EOPC-DE 5 176372793 176372793 single base substitution A T intron_variant EOPC-DE 5 176418251 176418251 single base substitution C T intron_variant EOPC-DE 5 176440081 176440081 single base substitution C A intron_variant ESAD-UK 5 176330703 176330703 single base substitution G A downstream_gene_variant ESAD-UK 5 176334631 176334631 single base substitution T C downstream_gene_variant ESAD-UK 5 176334631 176334631 single base substitution T C intron_variant ESAD-UK 5 176334631 176334631 single base substitution T C upstream_gene_variant ESAD-UK 5 176337016 176337016 single base substitution A G intron_variant ESAD-UK 5 176337016 176337016 single base substitution A G upstream_gene_variant ESAD-UK 5 176338479 176338479 single base substitution A G intron_variant ESAD-UK 5 176338479 176338479 single base substitution A G upstream_gene_variant ESAD-UK 5 176339792 176339792 single base substitution G C intron_variant ESAD-UK 5 176340953 176340953 single base substitution A C intron_variant ESAD-UK 5 176342199 176342199 single base substitution A G intron_variant ESAD-UK 5 176345990 176345990 single base substitution G T intron_variant ESAD-UK 5 176349102 176349102 single base substitution G A intron_variant ESAD-UK 5 176350324 176350324 single base substitution C A intron_variant ESAD-UK 5 176354770 176354770 single base substitution A C intron_variant ESAD-UK 5 176355002 176355002 single base substitution G A intron_variant ESAD-UK 5 176355380 176355380 single base substitution C G intron_variant ESAD-UK 5 176357342 176357342 insertion of <=200bp - A intron_variant ESAD-UK 5 176358953 176358953 single base substitution G A intron_variant ESAD-UK 5 176361448 176361448 single base substitution G A intron_variant ESAD-UK 5 176361488 176361488 single base substitution A C intron_variant ESAD-UK 5 176364571 176364571 deletion of <=200bp A - intron_variant ESAD-UK 5 176364859 176364859 single base substitution T C intron_variant ESAD-UK 5 176370908 176370908 single base substitution G C intron_variant ESAD-UK 5 176371596 176371596 single base substitution C A intron_variant ESAD-UK 5 176372405 176372405 single base substitution T C intron_variant ESAD-UK 5 176377247 176377247 single base substitution C T intron_variant ESAD-UK 5 176377872 176377872 deletion of <=200bp A - intron_variant ESAD-UK 5 176386244 176386244 single base substitution C T intron_variant ESAD-UK 5 176387234 176387234 single base substitution G C intron_variant ESAD-UK 5 176398579 176398579 single base substitution G A downstream_gene_variant ESAD-UK 5 176398579 176398579 single base substitution G A intron_variant ESAD-UK 5 176398579 176398579 single base substitution G A upstream_gene_variant ESAD-UK 5 176403289 176403289 single base substitution C G intron_variant ESAD-UK 5 176403438 176403438 single base substitution G C intron_variant ESAD-UK 5 176403851 176403851 single base substitution C T intron_variant ESAD-UK 5 176409884 176409884 single base substitution C G intron_variant ESAD-UK 5 176409884 176409884 single base substitution C G upstream_gene_variant ESAD-UK 5 176410699 176410699 single base substitution T C intron_variant ESAD-UK 5 176410699 176410699 single base substitution T C upstream_gene_variant ESAD-UK 5 176416871 176416871 single base substitution C T intron_variant ESAD-UK 5 176417920 176417920 single base substitution G A intron_variant ESAD-UK 5 176421595 176421595 single base substitution C A intron_variant ESAD-UK 5 176422031 176422031 single base substitution A G intron_variant ESAD-UK 5 176430243 176430243 single base substitution T A intron_variant ESAD-UK 5 176430394 176430394 single base substitution G A intron_variant ESAD-UK 5 176432242 176432242 insertion of <=200bp - T intron_variant ESAD-UK 5 176432984 176432984 single base substitution T C intron_variant ESAD-UK 5 176437486 176437486 single base substitution A T intron_variant ESAD-UK 5 176437486 176437486 single base substitution A T upstream_gene_variant ESAD-UK 5 176438197 176438197 single base substitution A G intron_variant ESAD-UK 5 176438197 176438197 single base substitution A G upstream_gene_variant ESAD-UK 5 176442916 176442916 single base substitution A T intron_variant ESAD-UK 5 176444475 176444475 single base substitution G A intron_variant ESAD-UK 5 176445317 176445317 single base substitution C T intron_variant ESAD-UK 5 176446484 176446484 single base substitution T A intron_variant ESAD-UK 5 176448296 176448296 single base substitution G T intron_variant ESAD-UK 5 176448297 176448297 single base substitution A G intron_variant ESAD-UK 5 176448857 176448857 single base substitution G A intron_variant ESCA-CN 5 176332408 176332408 single base substitution C T 3_prime_UTR_variant ESCA-CN 5 176332408 176332408 single base substitution C T downstream_gene_variant ESCA-CN 5 176332408 176332408 single base substitution C T exon_variant ESCA-CN 5 176332408 176332408 single base substitution C T missense_variant V513I 1537G>A ESCA-CN 5 176332408 176332408 single base substitution C T missense_variant V679I 2035G>A ESCA-CN 5 176332408 176332408 single base substitution C T missense_variant V680I 2038G>A ESCA-CN 5 176409494 176409494 deletion of <=200bp A - downstream_gene_variant ESCA-CN 5 176409494 176409494 deletion of <=200bp A - exon_variant ESCA-CN 5 176409494 176409494 deletion of <=200bp A - frameshift_variant I41 ESCA-CN 5 176409494 176409494 deletion of <=200bp A - upstream_gene_variant KIRC-US 5 176332369 176332369 single base substitution A G 3_prime_UTR_variant KIRC-US 5 176332369 176332369 single base substitution A G downstream_gene_variant KIRC-US 5 176332369 176332369 single base substitution A G exon_variant KIRC-US 5 176332369 176332369 single base substitution A G synonymous_variant L526L 1576T>C KIRC-US 5 176332369 176332369 single base substitution A G synonymous_variant L692L 2074T>C KIRC-US 5 176332369 176332369 single base substitution A G synonymous_variant L693L 2077T>C KIRC-US 5 176334129 176334129 single base substitution T C 3_prime_UTR_variant KIRC-US 5 176334129 176334129 single base substitution T C downstream_gene_variant KIRC-US 5 176334129 176334129 single base substitution T C exon_variant KIRC-US 5 176334129 176334129 single base substitution T C missense_variant E467G 1400A>G KIRC-US 5 176334129 176334129 single base substitution T C missense_variant E633G 1898A>G KIRC-US 5 176334129 176334129 single base substitution T C missense_variant E634G 1901A>G KIRC-US 5 176334129 176334129 single base substitution T C upstream_gene_variant KIRC-US 5 176338345 176338345 single base substitution C A 3_prime_UTR_variant KIRC-US 5 176338345 176338345 single base substitution C A exon_variant KIRC-US 5 176338345 176338345 single base substitution C A missense_variant G382V 1145G>T KIRC-US 5 176338345 176338345 single base substitution C A missense_variant G548V 1643G>T KIRC-US 5 176338345 176338345 single base substitution C A missense_variant G549V 1646G>T KIRC-US 5 176338345 176338345 single base substitution C A upstream_gene_variant KIRC-US 5 176382976 176382976 single base substitution T C 3_prime_UTR_variant KIRC-US 5 176382976 176382976 single base substitution T C exon_variant KIRC-US 5 176382976 176382976 single base substitution T C synonymous_variant E275E 825A>G KIRC-US 5 176382976 176382976 single base substitution T C synonymous_variant E441E 1323A>G KIRC-US 5 176402397 176402397 single base substitution G A downstream_gene_variant KIRC-US 5 176402397 176402397 single base substitution G A splice_region_variant KIRC-US 5 176402397 176402397 single base substitution G A stop_gained Q78* 232C>T KIRP-US 5 176395662 176395662 single base substitution C T 3_prime_UTR_variant KIRP-US 5 176395662 176395662 single base substitution C T downstream_gene_variant KIRP-US 5 176395662 176395662 single base substitution C T exon_variant KIRP-US 5 176395662 176395662 single base substitution C T intron_variant KIRP-US 5 176395662 176395662 single base substitution C T missense_variant R365K 1094G>A LAML-KR 5 176334195 176334195 single base substitution C T downstream_gene_variant LAML-KR 5 176334195 176334195 single base substitution C T exon_variant LAML-KR 5 176334195 176334195 single base substitution C T intron_variant LAML-KR 5 176334195 176334195 single base substitution C T upstream_gene_variant LAML-KR 5 176341075 176341075 single base substitution C T intron_variant LAML-KR 5 176356148 176356148 single base substitution C T intron_variant LAML-KR 5 176373773 176373773 single base substitution T C intron_variant LAML-KR 5 176389141 176389141 single base substitution G A intron_variant LAML-KR 5 176399474 176399474 single base substitution T C downstream_gene_variant LAML-KR 5 176399474 176399474 single base substitution T C intron_variant LAML-KR 5 176399474 176399474 single base substitution T C upstream_gene_variant LAML-KR 5 176410759 176410759 single base substitution A G intron_variant LAML-KR 5 176410759 176410759 single base substitution A G upstream_gene_variant LAML-KR 5 176443591 176443591 single base substitution C T intron_variant LICA-CN 5 176397779 176397779 single base substitution C T downstream_gene_variant LICA-CN 5 176397779 176397779 single base substitution C T exon_variant LICA-CN 5 176397779 176397779 single base substitution C T synonymous_variant E107E 321G>A LICA-CN 5 176397779 176397779 single base substitution C T upstream_gene_variant LICA-FR 5 176327949 176327950 deletion of <=200bp CA - downstream_gene_variant LICA-FR 5 176335625 176335625 single base substitution G T 3_prime_UTR_variant LICA-FR 5 176335625 176335625 single base substitution G T downstream_gene_variant LICA-FR 5 176335625 176335625 single base substitution G T missense_variant L417I 1249C>A LICA-FR 5 176335625 176335625 single base substitution G T missense_variant L583I 1747C>A LICA-FR 5 176335625 176335625 single base substitution G T missense_variant L584I 1750C>A LICA-FR 5 176335625 176335625 single base substitution G T upstream_gene_variant LICA-FR 5 176346142 176346142 single base substitution T C intron_variant LICA-FR 5 176354225 176354227 deletion of <=200bp AAG - intron_variant LICA-FR 5 176354226 176354227 deletion of <=200bp AG - intron_variant LICA-FR 5 176354853 176354853 deletion of <=200bp T - intron_variant LICA-FR 5 176404622 176404622 single base substitution C A downstream_gene_variant LICA-FR 5 176404622 176404622 single base substitution C A intron_variant LICA-FR 5 176421512 176421514 deletion of <=200bp AAA - intron_variant LICA-FR 5 176429182 176429182 insertion of <=200bp - GCT intron_variant LICA-FR 5 176430024 176430024 single base substitution T C intron_variant LICA-FR 5 176448312 176448312 single base substitution G T intron_variant LICA-FR 5 176450811 176450811 single base substitution G A upstream_gene_variant LINC-JP 5 176333176 176333176 single base substitution C A downstream_gene_variant LINC-JP 5 176333176 176333176 single base substitution C A exon_variant LINC-JP 5 176333176 176333176 single base substitution C A intron_variant LINC-JP 5 176347217 176347217 single base substitution C T intron_variant LINC-JP 5 176352642 176352642 single base substitution C T intron_variant LINC-JP 5 176361395 176361395 single base substitution T C intron_variant LINC-JP 5 176362314 176362314 single base substitution G A intron_variant LINC-JP 5 176367781 176367781 single base substitution C G intron_variant LINC-JP 5 176378376 176378376 single base substitution T C intron_variant LINC-JP 5 176383469 176383469 single base substitution T C intron_variant LINC-JP 5 176396948 176396948 single base substitution A C downstream_gene_variant LINC-JP 5 176396948 176396948 single base substitution A C exon_variant LINC-JP 5 176396948 176396948 single base substitution A C intron_variant LINC-JP 5 176396948 176396948 single base substitution A C upstream_gene_variant LINC-JP 5 176397788 176397788 single base substitution C T downstream_gene_variant LINC-JP 5 176397788 176397788 single base substitution C T exon_variant LINC-JP 5 176397788 176397788 single base substitution C T synonymous_variant E104E 312G>A LINC-JP 5 176397788 176397788 single base substitution C T upstream_gene_variant LINC-JP 5 176398420 176398420 single base substitution A C downstream_gene_variant LINC-JP 5 176398420 176398420 single base substitution A C intron_variant LINC-JP 5 176398420 176398420 single base substitution A C upstream_gene_variant LINC-JP 5 176398834 176398834 single base substitution C A downstream_gene_variant LINC-JP 5 176398834 176398834 single base substitution C A intron_variant LINC-JP 5 176398834 176398834 single base substitution C A upstream_gene_variant LINC-JP 5 176404604 176404604 single base substitution G A downstream_gene_variant LINC-JP 5 176404604 176404604 single base substitution G A intron_variant LINC-JP 5 176450275 176450275 single base substitution C T upstream_gene_variant LIRI-JP 5 176327981 176327981 single base substitution A G downstream_gene_variant LIRI-JP 5 176330901 176330901 single base substitution T C downstream_gene_variant LIRI-JP 5 176333102 176333102 single base substitution C A downstream_gene_variant LIRI-JP 5 176333102 176333102 single base substitution C A exon_variant LIRI-JP 5 176333102 176333102 single base substitution C A intron_variant LIRI-JP 5 176333618 176333618 single base substitution T A downstream_gene_variant LIRI-JP 5 176333618 176333618 single base substitution T A intron_variant LIRI-JP 5 176333618 176333618 single base substitution T A upstream_gene_variant LIRI-JP 5 176334691 176334691 single base substitution T C downstream_gene_variant LIRI-JP 5 176334691 176334691 single base substitution T C intron_variant LIRI-JP 5 176334691 176334691 single base substitution T C upstream_gene_variant LIRI-JP 5 176336144 176336144 single base substitution A T intron_variant LIRI-JP 5 176336144 176336144 single base substitution A T upstream_gene_variant LIRI-JP 5 176337682 176337682 single base substitution T C intron_variant LIRI-JP 5 176337682 176337682 single base substitution T C upstream_gene_variant LIRI-JP 5 176337921 176337921 single base substitution C G intron_variant LIRI-JP 5 176337921 176337921 single base substitution C G upstream_gene_variant LIRI-JP 5 176337922 176337922 single base substitution C A intron_variant LIRI-JP 5 176337922 176337922 single base substitution C A upstream_gene_variant LIRI-JP 5 176338580 176338580 single base substitution T C intron_variant LIRI-JP 5 176338580 176338580 single base substitution T C upstream_gene_variant LIRI-JP 5 176340240 176340240 single base substitution C T intron_variant LIRI-JP 5 176341491 176341491 single base substitution A T intron_variant LIRI-JP 5 176344828 176344828 single base substitution C T intron_variant LIRI-JP 5 176347863 176347863 single base substitution T C intron_variant LIRI-JP 5 176348575 176348575 single base substitution G T intron_variant LIRI-JP 5 176353029 176353029 single base substitution A T intron_variant LIRI-JP 5 176355244 176355244 single base substitution G C intron_variant LIRI-JP 5 176357008 176357008 single base substitution T A intron_variant LIRI-JP 5 176357055 176357055 single base substitution C T intron_variant LIRI-JP 5 176357373 176357373 single base substitution T C intron_variant LIRI-JP 5 176359549 176359549 single base substitution A G intron_variant LIRI-JP 5 176360017 176360017 single base substitution C A intron_variant LIRI-JP 5 176361320 176361320 single base substitution T C intron_variant LIRI-JP 5 176363290 176363290 single base substitution C T intron_variant LIRI-JP 5 176364661 176364661 insertion of <=200bp - A intron_variant LIRI-JP 5 176365639 176365639 single base substitution T C intron_variant LIRI-JP 5 176368293 176368293 single base substitution C T intron_variant LIRI-JP 5 176368330 176368330 single base substitution C A intron_variant LIRI-JP 5 176369073 176369073 single base substitution T C intron_variant LIRI-JP 5 176372171 176372171 single base substitution T C intron_variant LIRI-JP 5 176373164 176373164 single base substitution C T intron_variant LIRI-JP 5 176375854 176375854 single base substitution C G intron_variant LIRI-JP 5 176376720 176376720 single base substitution A T intron_variant LIRI-JP 5 176376912 176376912 single base substitution G A intron_variant LIRI-JP 5 176377161 176377161 single base substitution C T intron_variant LIRI-JP 5 176377544 176377544 single base substitution A G intron_variant LIRI-JP 5 176378815 176378815 single base substitution T C intron_variant LIRI-JP 5 176379361 176379361 single base substitution A G intron_variant LIRI-JP 5 176379413 176379413 single base substitution G A intron_variant LIRI-JP 5 176381996 176381996 single base substitution T C intron_variant LIRI-JP 5 176385534 176385534 single base substitution T C intron_variant LIRI-JP 5 176385610 176385610 single base substitution T G intron_variant LIRI-JP 5 176386333 176386333 single base substitution T C intron_variant LIRI-JP 5 176391267 176391267 single base substitution T C intron_variant LIRI-JP 5 176393027 176393027 single base substitution T C downstream_gene_variant LIRI-JP 5 176393027 176393027 single base substitution T C intron_variant LIRI-JP 5 176396381 176396381 single base substitution T C downstream_gene_variant LIRI-JP 5 176396381 176396381 single base substitution T C intron_variant LIRI-JP 5 176396381 176396381 single base substitution T C upstream_gene_variant LIRI-JP 5 176396440 176396440 single base substitution A T downstream_gene_variant LIRI-JP 5 176396440 176396440 single base substitution A T intron_variant LIRI-JP 5 176396440 176396440 single base substitution A T upstream_gene_variant LIRI-JP 5 176397470 176397470 single base substitution T C downstream_gene_variant LIRI-JP 5 176397470 176397470 single base substitution T C exon_variant LIRI-JP 5 176397470 176397470 single base substitution T C intron_variant LIRI-JP 5 176397470 176397470 single base substitution T C upstream_gene_variant LIRI-JP 5 176400257 176400257 single base substitution T C downstream_gene_variant LIRI-JP 5 176400257 176400257 single base substitution T C intron_variant LIRI-JP 5 176400257 176400257 single base substitution T C upstream_gene_variant LIRI-JP 5 176400675 176400675 single base substitution T C downstream_gene_variant LIRI-JP 5 176400675 176400675 single base substitution T C intron_variant LIRI-JP 5 176400675 176400675 single base substitution T C upstream_gene_variant LIRI-JP 5 176400885 176400885 single base substitution C A downstream_gene_variant LIRI-JP 5 176400885 176400885 single base substitution C A intron_variant LIRI-JP 5 176400885 176400885 single base substitution C A upstream_gene_variant LIRI-JP 5 176404496 176404496 single base substitution C G intron_variant LIRI-JP 5 176404507 176404507 single base substitution T C intron_variant LIRI-JP 5 176406249 176406249 single base substitution T C downstream_gene_variant LIRI-JP 5 176406249 176406249 single base substitution T C intron_variant LIRI-JP 5 176406279 176406279 single base substitution G A downstream_gene_variant LIRI-JP 5 176406279 176406279 single base substitution G A intron_variant LIRI-JP 5 176408524 176408524 single base substitution A G downstream_gene_variant LIRI-JP 5 176408524 176408524 single base substitution A G intron_variant LIRI-JP 5 176408524 176408524 single base substitution A G upstream_gene_variant LIRI-JP 5 176408541 176408541 single base substitution T C downstream_gene_variant LIRI-JP 5 176408541 176408541 single base substitution T C intron_variant LIRI-JP 5 176408541 176408541 single base substitution T C upstream_gene_variant LIRI-JP 5 176408857 176408857 single base substitution C T downstream_gene_variant LIRI-JP 5 176408857 176408857 single base substitution C T intron_variant LIRI-JP 5 176408857 176408857 single base substitution C T upstream_gene_variant LIRI-JP 5 176409704 176409704 single base substitution C A intron_variant LIRI-JP 5 176409704 176409704 single base substitution C A upstream_gene_variant LIRI-JP 5 176412923 176412923 single base substitution G A intron_variant LIRI-JP 5 176412971 176412971 single base substitution A G intron_variant LIRI-JP 5 176415079 176415079 single base substitution C A intron_variant LIRI-JP 5 176415456 176415456 single base substitution A T intron_variant LIRI-JP 5 176418432 176418432 single base substitution T C intron_variant LIRI-JP 5 176418704 176418704 single base substitution C A intron_variant LIRI-JP 5 176421323 176421323 single base substitution T C intron_variant LIRI-JP 5 176423121 176423121 single base substitution A G intron_variant LIRI-JP 5 176423193 176423193 single base substitution A C intron_variant LIRI-JP 5 176425325 176425325 single base substitution C A intron_variant LIRI-JP 5 176426715 176426715 single base substitution T G intron_variant LIRI-JP 5 176427786 176427786 single base substitution C T intron_variant LIRI-JP 5 176430266 176430266 single base substitution T C intron_variant LIRI-JP 5 176431531 176431531 single base substitution T A intron_variant LIRI-JP 5 176432982 176432982 single base substitution G A intron_variant LIRI-JP 5 176436961 176436961 single base substitution C A intron_variant LIRI-JP 5 176436961 176436961 single base substitution C A upstream_gene_variant LIRI-JP 5 176436962 176436962 single base substitution C A intron_variant LIRI-JP 5 176436962 176436962 single base substitution C A upstream_gene_variant LIRI-JP 5 176438552 176438552 single base substitution C A intron_variant LIRI-JP 5 176438552 176438552 single base substitution C A upstream_gene_variant LIRI-JP 5 176439799 176439799 single base substitution A G intron_variant LUSC-KR 5 176331480 176331480 single base substitution G A downstream_gene_variant LUSC-KR 5 176334399 176334399 single base substitution A G downstream_gene_variant LUSC-KR 5 176334399 176334399 single base substitution A G intron_variant LUSC-KR 5 176334399 176334399 single base substitution A G upstream_gene_variant LUSC-KR 5 176341075 176341075 single base substitution C T intron_variant LUSC-KR 5 176347930 176347930 single base substitution C G intron_variant LUSC-KR 5 176350889 176350889 single base substitution T C intron_variant LUSC-KR 5 176354944 176354944 single base substitution C G intron_variant LUSC-KR 5 176356400 176356400 single base substitution T C intron_variant LUSC-KR 5 176359706 176359706 single base substitution T C intron_variant LUSC-KR 5 176359834 176359834 single base substitution C T intron_variant LUSC-KR 5 176362099 176362099 single base substitution C T intron_variant LUSC-KR 5 176378010 176378010 single base substitution A C intron_variant LUSC-KR 5 176389045 176389045 single base substitution G A intron_variant LUSC-KR 5 176389137 176389137 single base substitution G A intron_variant LUSC-KR 5 176399610 176399610 single base substitution G A downstream_gene_variant LUSC-KR 5 176399610 176399610 single base substitution G A intron_variant LUSC-KR 5 176399610 176399610 single base substitution G A upstream_gene_variant LUSC-KR 5 176408164 176408164 single base substitution G T downstream_gene_variant LUSC-KR 5 176408164 176408164 single base substitution G T intron_variant LUSC-KR 5 176408164 176408164 single base substitution G T upstream_gene_variant LUSC-KR 5 176412133 176412133 single base substitution T C intron_variant LUSC-KR 5 176412133 176412133 single base substitution T C upstream_gene_variant LUSC-KR 5 176415978 176415978 single base substitution A C intron_variant LUSC-KR 5 176419480 176419480 single base substitution T A intron_variant LUSC-KR 5 176420423 176420423 single base substitution C G intron_variant LUSC-KR 5 176422563 176422563 single base substitution G A intron_variant LUSC-KR 5 176424210 176424210 single base substitution C G intron_variant LUSC-KR 5 176434360 176434360 single base substitution A G intron_variant LUSC-KR 5 176434360 176434360 single base substitution A G upstream_gene_variant LUSC-KR 5 176435898 176435898 single base substitution T A intron_variant LUSC-KR 5 176435898 176435898 single base substitution T A upstream_gene_variant LUSC-KR 5 176443587 176443587 single base substitution A G intron_variant LUSC-KR 5 176443749 176443749 single base substitution C A intron_variant LUSC-KR 5 176449061 176449061 single base substitution G A intron_variant LUSC-KR 5 176450739 176450739 single base substitution A C upstream_gene_variant LUSC-KR 5 176451383 176451383 single base substitution G T upstream_gene_variant LUSC-KR 5 176454332 176454332 single base substitution G A upstream_gene_variant LUSC-KR 5 176454488 176454488 single base substitution G C upstream_gene_variant LUSC-US 5 176334156 176334156 single base substitution C A 3_prime_UTR_variant LUSC-US 5 176334156 176334156 single base substitution C A downstream_gene_variant LUSC-US 5 176334156 176334156 single base substitution C A exon_variant LUSC-US 5 176334156 176334156 single base substitution C A missense_variant R458L 1373G>T LUSC-US 5 176334156 176334156 single base substitution C A missense_variant R624L 1871G>T LUSC-US 5 176334156 176334156 single base substitution C A missense_variant R625L 1874G>T LUSC-US 5 176334156 176334156 single base substitution C A upstream_gene_variant MALY-DE 5 176327594 176327594 single base substitution G C downstream_gene_variant MALY-DE 5 176328582 176328582 single base substitution A T downstream_gene_variant MALY-DE 5 176339813 176339813 single base substitution G A intron_variant MALY-DE 5 176342957 176342966 deletion of <=200bp TAGAAGAAAA - intron_variant MALY-DE 5 176348208 176348208 single base substitution T C intron_variant MALY-DE 5 176349969 176349969 single base substitution T A intron_variant MALY-DE 5 176354020 176354020 single base substitution G A intron_variant MALY-DE 5 176355568 176355568 single base substitution T A intron_variant MALY-DE 5 176356566 176356566 insertion of <=200bp - A intron_variant MALY-DE 5 176361836 176361859 deletion of <=200bp GCTATGGCTGCTGGCAGCCATTTT - intron_variant MALY-DE 5 176363033 176363033 single base substitution T C intron_variant MALY-DE 5 176371291 176371291 single base substitution C A intron_variant MALY-DE 5 176373529 176373529 single base substitution A G intron_variant MALY-DE 5 176390850 176390850 deletion of <=200bp A - intron_variant MALY-DE 5 176400516 176400516 single base substitution A T downstream_gene_variant MALY-DE 5 176400516 176400516 single base substitution A T intron_variant MALY-DE 5 176400516 176400516 single base substitution A T upstream_gene_variant MALY-DE 5 176400590 176400590 single base substitution A G downstream_gene_variant MALY-DE 5 176400590 176400590 single base substitution A G intron_variant MALY-DE 5 176400590 176400590 single base substitution A G upstream_gene_variant MALY-DE 5 176404488 176404488 single base substitution A G intron_variant MALY-DE 5 176408139 176408139 single base substitution T C downstream_gene_variant MALY-DE 5 176408139 176408139 single base substitution T C intron_variant MALY-DE 5 176408139 176408139 single base substitution T C upstream_gene_variant MALY-DE 5 176408736 176408736 single base substitution C T downstream_gene_variant MALY-DE 5 176408736 176408736 single base substitution C T intron_variant MALY-DE 5 176408736 176408736 single base substitution C T upstream_gene_variant MALY-DE 5 176425929 176425929 single base substitution G A intron_variant MALY-DE 5 176435835 176435835 single base substitution T C intron_variant MALY-DE 5 176435835 176435835 single base substitution T C upstream_gene_variant MALY-DE 5 176445817 176445817 single base substitution T C intron_variant MALY-DE 5 176449745 176449745 single base substitution G A upstream_gene_variant MELA-AU 5 176327433 176327433 single base substitution T C downstream_gene_variant MELA-AU 5 176327864 176327864 single base substitution G A downstream_gene_variant MELA-AU 5 176328059 176328059 single base substitution C T downstream_gene_variant MELA-AU 5 176328561 176328561 single base substitution A G downstream_gene_variant MELA-AU 5 176328770 176328770 single base substitution G A downstream_gene_variant MELA-AU 5 176329462 176329462 single base substitution A G downstream_gene_variant MELA-AU 5 176329737 176329737 single base substitution G A downstream_gene_variant MELA-AU 5 176329922 176329922 single base substitution C T downstream_gene_variant MELA-AU 5 176330009 176330009 single base substitution G A downstream_gene_variant MELA-AU 5 176330233 176330233 single base substitution G A downstream_gene_variant MELA-AU 5 176330660 176330660 single base substitution T C downstream_gene_variant MELA-AU 5 176330903 176330903 single base substitution G A downstream_gene_variant MELA-AU 5 176331090 176331090 single base substitution G A downstream_gene_variant MELA-AU 5 176331771 176331771 single base substitution G A downstream_gene_variant MELA-AU 5 176331997 176331997 single base substitution G A downstream_gene_variant MELA-AU 5 176332904 176332904 single base substitution G A downstream_gene_variant MELA-AU 5 176332904 176332904 single base substitution G A exon_variant MELA-AU 5 176332904 176332904 single base substitution G A intron_variant MELA-AU 5 176333306 176333306 single base substitution G A downstream_gene_variant MELA-AU 5 176333306 176333306 single base substitution G A intron_variant MELA-AU 5 176333306 176333306 single base substitution G A upstream_gene_variant MELA-AU 5 176333634 176333634 single base substitution T C downstream_gene_variant MELA-AU 5 176333634 176333634 single base substitution T C intron_variant MELA-AU 5 176333634 176333634 single base substitution T C upstream_gene_variant MELA-AU 5 176334076 176334076 single base substitution T A downstream_gene_variant MELA-AU 5 176334076 176334076 single base substitution T A intron_variant MELA-AU 5 176334076 176334076 single base substitution T A upstream_gene_variant MELA-AU 5 176334298 176334298 single base substitution G A downstream_gene_variant MELA-AU 5 176334298 176334298 single base substitution G A exon_variant MELA-AU 5 176334298 176334298 single base substitution G A intron_variant MELA-AU 5 176334298 176334298 single base substitution G A upstream_gene_variant MELA-AU 5 176335426 176335426 single base substitution G A downstream_gene_variant MELA-AU 5 176335426 176335426 single base substitution G A intron_variant MELA-AU 5 176335426 176335426 single base substitution G A upstream_gene_variant MELA-AU 5 176335714 176335714 single base substitution G A intron_variant MELA-AU 5 176335714 176335714 single base substitution G A upstream_gene_variant MELA-AU 5 176336074 176336074 single base substitution G A intron_variant MELA-AU 5 176336074 176336074 single base substitution G A upstream_gene_variant MELA-AU 5 176336626 176336626 single base substitution G A intron_variant MELA-AU 5 176336626 176336626 single base substitution G A upstream_gene_variant MELA-AU 5 176336849 176336849 single base substitution G A intron_variant MELA-AU 5 176336849 176336849 single base substitution G A upstream_gene_variant MELA-AU 5 176337536 176337536 single base substitution C T intron_variant MELA-AU 5 176337536 176337536 single base substitution C T upstream_gene_variant MELA-AU 5 176337909 176337909 single base substitution G A intron_variant MELA-AU 5 176337909 176337909 single base substitution G A upstream_gene_variant MELA-AU 5 176338803 176338803 single base substitution G A intron_variant MELA-AU 5 176338803 176338803 single base substitution G A upstream_gene_variant MELA-AU 5 176338942 176338942 single base substitution G A intron_variant MELA-AU 5 176338942 176338942 single base substitution G A upstream_gene_variant MELA-AU 5 176339497 176339497 single base substitution T C intron_variant MELA-AU 5 176339561 176339561 single base substitution C T intron_variant MELA-AU 5 176340380 176340380 single base substitution G A intron_variant MELA-AU 5 176341090 176341090 single base substitution T C intron_variant MELA-AU 5 176341680 176341680 single base substitution G A intron_variant MELA-AU 5 176342669 176342669 single base substitution C T intron_variant MELA-AU 5 176343251 176343251 single base substitution G A intron_variant MELA-AU 5 176344471 176344471 single base substitution G A intron_variant MELA-AU 5 176345090 176345090 single base substitution G A intron_variant MELA-AU 5 176346362 176346362 single base substitution G A intron_variant MELA-AU 5 176347219 176347219 single base substitution G A intron_variant MELA-AU 5 176347484 176347485 multiple base substitution (>=2bp and <=200bp) GA TC intron_variant MELA-AU 5 176347587 176347587 single base substitution C A intron_variant MELA-AU 5 176348320 176348320 single base substitution C T intron_variant MELA-AU 5 176348912 176348912 single base substitution G A intron_variant MELA-AU 5 176349082 176349082 single base substitution C T intron_variant MELA-AU 5 176349481 176349481 single base substitution A T intron_variant MELA-AU 5 176349551 176349551 single base substitution A C intron_variant MELA-AU 5 176350891 176350891 single base substitution C T intron_variant MELA-AU 5 176351077 176351077 single base substitution G A intron_variant MELA-AU 5 176351324 176351324 single base substitution A C intron_variant MELA-AU 5 176351375 176351375 single base substitution G A intron_variant MELA-AU 5 176351691 176351691 single base substitution G A intron_variant MELA-AU 5 176351886 176351886 single base substitution G A intron_variant MELA-AU 5 176352763 176352764 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176352894 176352894 single base substitution A G intron_variant MELA-AU 5 176353112 176353112 single base substitution G A intron_variant MELA-AU 5 176353713 176353713 single base substitution A G intron_variant MELA-AU 5 176353728 176353728 single base substitution G A intron_variant MELA-AU 5 176353729 176353729 single base substitution C T intron_variant MELA-AU 5 176353854 176353854 single base substitution G A intron_variant MELA-AU 5 176353927 176353927 single base substitution G A intron_variant MELA-AU 5 176355055 176355055 single base substitution G A intron_variant MELA-AU 5 176355097 176355098 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176355778 176355778 single base substitution C T intron_variant MELA-AU 5 176355847 176355847 single base substitution G A intron_variant MELA-AU 5 176355978 176355978 single base substitution G A intron_variant MELA-AU 5 176356495 176356495 single base substitution G A intron_variant MELA-AU 5 176356809 176356809 single base substitution G A intron_variant MELA-AU 5 176358412 176358412 single base substitution G A intron_variant MELA-AU 5 176358413 176358413 single base substitution G A intron_variant MELA-AU 5 176358609 176358609 single base substitution A C intron_variant MELA-AU 5 176359576 176359576 single base substitution C T intron_variant MELA-AU 5 176361337 176361337 single base substitution A C intron_variant MELA-AU 5 176363537 176363538 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 5 176364313 176364313 single base substitution G A intron_variant MELA-AU 5 176365343 176365343 single base substitution A C intron_variant MELA-AU 5 176365678 176365678 single base substitution G A intron_variant MELA-AU 5 176366271 176366271 single base substitution A T intron_variant MELA-AU 5 176367242 176367242 single base substitution T C intron_variant MELA-AU 5 176367256 176367256 single base substitution G A intron_variant MELA-AU 5 176367414 176367414 single base substitution G C intron_variant MELA-AU 5 176368021 176368021 single base substitution G A intron_variant MELA-AU 5 176368035 176368035 single base substitution G A intron_variant MELA-AU 5 176368834 176368834 single base substitution G A intron_variant MELA-AU 5 176368835 176368835 single base substitution G A intron_variant MELA-AU 5 176369110 176369110 single base substitution G A intron_variant MELA-AU 5 176369723 176369723 single base substitution G A intron_variant MELA-AU 5 176370004 176370004 single base substitution A T intron_variant MELA-AU 5 176370113 176370113 single base substitution T G intron_variant MELA-AU 5 176372701 176372701 single base substitution C T intron_variant MELA-AU 5 176373297 176373297 single base substitution G A intron_variant MELA-AU 5 176373308 176373308 single base substitution T A intron_variant MELA-AU 5 176373439 176373439 single base substitution G A intron_variant MELA-AU 5 176373547 176373547 single base substitution G A intron_variant MELA-AU 5 176374275 176374275 single base substitution G A intron_variant MELA-AU 5 176376097 176376097 single base substitution A G intron_variant MELA-AU 5 176376739 176376739 single base substitution G A intron_variant MELA-AU 5 176376925 176376926 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176377149 176377149 single base substitution G A intron_variant MELA-AU 5 176377891 176377891 single base substitution G A intron_variant MELA-AU 5 176377977 176377977 single base substitution G A intron_variant MELA-AU 5 176377981 176377981 single base substitution G A intron_variant MELA-AU 5 176378346 176378346 deletion of <=200bp A - intron_variant MELA-AU 5 176378563 176378563 single base substitution G A 3_prime_UTR_variant MELA-AU 5 176378563 176378563 single base substitution G A exon_variant MELA-AU 5 176378563 176378563 single base substitution G A missense_variant S286F 857C>T MELA-AU 5 176378563 176378563 single base substitution G A missense_variant S452F 1355C>T MELA-AU 5 176380414 176380414 single base substitution G A intron_variant MELA-AU 5 176381825 176381825 single base substitution G T intron_variant MELA-AU 5 176381898 176381898 single base substitution G A intron_variant MELA-AU 5 176383104 176383104 single base substitution G A intron_variant MELA-AU 5 176383330 176383330 single base substitution A T intron_variant MELA-AU 5 176384219 176384219 single base substitution G A intron_variant MELA-AU 5 176384220 176384220 single base substitution A T intron_variant MELA-AU 5 176384341 176384341 single base substitution G A intron_variant MELA-AU 5 176385781 176385781 single base substitution A G intron_variant MELA-AU 5 176386186 176386186 single base substitution A C intron_variant MELA-AU 5 176386815 176386815 single base substitution C T intron_variant MELA-AU 5 176387559 176387559 single base substitution G A intron_variant MELA-AU 5 176389514 176389514 single base substitution G A intron_variant MELA-AU 5 176390851 176390851 single base substitution A T intron_variant MELA-AU 5 176391195 176391195 single base substitution G A intron_variant MELA-AU 5 176393069 176393069 single base substitution G A downstream_gene_variant MELA-AU 5 176393069 176393069 single base substitution G A intron_variant MELA-AU 5 176394358 176394358 single base substitution G A downstream_gene_variant MELA-AU 5 176394358 176394358 single base substitution G A intron_variant MELA-AU 5 176394864 176394865 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 176394864 176394865 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176394982 176394982 single base substitution G A downstream_gene_variant MELA-AU 5 176394982 176394982 single base substitution G A intron_variant MELA-AU 5 176395165 176395165 single base substitution G A downstream_gene_variant MELA-AU 5 176395165 176395165 single base substitution G A intron_variant MELA-AU 5 176395662 176395662 single base substitution C T 3_prime_UTR_variant MELA-AU 5 176395662 176395662 single base substitution C T downstream_gene_variant MELA-AU 5 176395662 176395662 single base substitution C T exon_variant MELA-AU 5 176395662 176395662 single base substitution C T intron_variant MELA-AU 5 176395662 176395662 single base substitution C T missense_variant R365K 1094G>A MELA-AU 5 176396272 176396272 single base substitution G A downstream_gene_variant MELA-AU 5 176396272 176396272 single base substitution G A exon_variant MELA-AU 5 176396272 176396272 single base substitution G A intron_variant MELA-AU 5 176396272 176396272 single base substitution G A missense_variant P162S 484C>T MELA-AU 5 176396272 176396272 single base substitution G A upstream_gene_variant MELA-AU 5 176396422 176396423 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 176396422 176396423 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176396422 176396423 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 176396436 176396436 single base substitution G A downstream_gene_variant MELA-AU 5 176396436 176396436 single base substitution G A intron_variant MELA-AU 5 176396436 176396436 single base substitution G A upstream_gene_variant MELA-AU 5 176396617 176396617 single base substitution A G downstream_gene_variant MELA-AU 5 176396617 176396617 single base substitution A G exon_variant MELA-AU 5 176396617 176396617 single base substitution A G intron_variant MELA-AU 5 176396617 176396617 single base substitution A G missense_variant S150P 448T>C MELA-AU 5 176396617 176396617 single base substitution A G upstream_gene_variant MELA-AU 5 176396700 176396700 single base substitution C T downstream_gene_variant MELA-AU 5 176396700 176396700 single base substitution C T exon_variant MELA-AU 5 176396700 176396700 single base substitution C T intron_variant MELA-AU 5 176396700 176396700 single base substitution C T missense_variant R122Q 365G>A MELA-AU 5 176396700 176396700 single base substitution C T upstream_gene_variant MELA-AU 5 176397377 176397377 single base substitution C T downstream_gene_variant MELA-AU 5 176397377 176397377 single base substitution C T exon_variant MELA-AU 5 176397377 176397377 single base substitution C T intron_variant MELA-AU 5 176397377 176397377 single base substitution C T upstream_gene_variant MELA-AU 5 176397527 176397527 single base substitution G A downstream_gene_variant MELA-AU 5 176397527 176397527 single base substitution G A exon_variant MELA-AU 5 176397527 176397527 single base substitution G A intron_variant MELA-AU 5 176397527 176397527 single base substitution G A upstream_gene_variant MELA-AU 5 176397894 176397894 single base substitution G A downstream_gene_variant MELA-AU 5 176397894 176397894 single base substitution G A intron_variant MELA-AU 5 176397894 176397894 single base substitution G A upstream_gene_variant MELA-AU 5 176398503 176398503 single base substitution A T downstream_gene_variant MELA-AU 5 176398503 176398503 single base substitution A T intron_variant MELA-AU 5 176398503 176398503 single base substitution A T upstream_gene_variant MELA-AU 5 176398603 176398603 deletion of <=200bp A - downstream_gene_variant MELA-AU 5 176398603 176398603 deletion of <=200bp A - intron_variant MELA-AU 5 176398603 176398603 deletion of <=200bp A - upstream_gene_variant MELA-AU 5 176399054 176399054 single base substitution T C downstream_gene_variant MELA-AU 5 176399054 176399054 single base substitution T C intron_variant MELA-AU 5 176399054 176399054 single base substitution T C upstream_gene_variant MELA-AU 5 176399162 176399162 single base substitution G A downstream_gene_variant MELA-AU 5 176399162 176399162 single base substitution G A intron_variant MELA-AU 5 176399162 176399162 single base substitution G A upstream_gene_variant MELA-AU 5 176399236 176399236 single base substitution C A downstream_gene_variant MELA-AU 5 176399236 176399236 single base substitution C A intron_variant MELA-AU 5 176399236 176399236 single base substitution C A upstream_gene_variant MELA-AU 5 176399456 176399456 single base substitution G A downstream_gene_variant MELA-AU 5 176399456 176399456 single base substitution G A intron_variant MELA-AU 5 176399456 176399456 single base substitution G A upstream_gene_variant MELA-AU 5 176400418 176400418 single base substitution G A downstream_gene_variant MELA-AU 5 176400418 176400418 single base substitution G A intron_variant MELA-AU 5 176400418 176400418 single base substitution G A upstream_gene_variant MELA-AU 5 176400876 176400876 single base substitution G A downstream_gene_variant MELA-AU 5 176400876 176400876 single base substitution G A intron_variant MELA-AU 5 176400876 176400876 single base substitution G A upstream_gene_variant MELA-AU 5 176401200 176401200 single base substitution C T downstream_gene_variant MELA-AU 5 176401200 176401200 single base substitution C T intron_variant MELA-AU 5 176401279 176401279 single base substitution G A downstream_gene_variant MELA-AU 5 176401279 176401279 single base substitution G A intron_variant MELA-AU 5 176401456 176401456 single base substitution G A downstream_gene_variant MELA-AU 5 176401456 176401456 single base substitution G A intron_variant MELA-AU 5 176401927 176401927 single base substitution G A downstream_gene_variant MELA-AU 5 176401927 176401927 single base substitution G A intron_variant MELA-AU 5 176402031 176402031 single base substitution G A downstream_gene_variant MELA-AU 5 176402031 176402031 single base substitution G A intron_variant MELA-AU 5 176403142 176403142 single base substitution A T intron_variant MELA-AU 5 176403485 176403486 multiple base substitution (>=2bp and <=200bp) GA CT intron_variant MELA-AU 5 176406737 176406737 single base substitution C T downstream_gene_variant MELA-AU 5 176406737 176406737 single base substitution C T intron_variant MELA-AU 5 176406990 176406990 single base substitution G A downstream_gene_variant MELA-AU 5 176406990 176406990 single base substitution G A intron_variant MELA-AU 5 176409695 176409695 single base substitution G A intron_variant MELA-AU 5 176409695 176409695 single base substitution G A upstream_gene_variant MELA-AU 5 176409764 176409764 single base substitution G A intron_variant MELA-AU 5 176409764 176409764 single base substitution G A upstream_gene_variant MELA-AU 5 176409796 176409796 single base substitution G A intron_variant MELA-AU 5 176409796 176409796 single base substitution G A upstream_gene_variant MELA-AU 5 176410734 176410734 single base substitution C T intron_variant MELA-AU 5 176410734 176410734 single base substitution C T upstream_gene_variant MELA-AU 5 176410893 176410893 single base substitution T A intron_variant MELA-AU 5 176410893 176410893 single base substitution T A upstream_gene_variant MELA-AU 5 176410935 176410935 single base substitution G A intron_variant MELA-AU 5 176410935 176410935 single base substitution G A upstream_gene_variant MELA-AU 5 176410974 176410974 single base substitution G A intron_variant MELA-AU 5 176410974 176410974 single base substitution G A upstream_gene_variant MELA-AU 5 176411492 176411492 single base substitution C A intron_variant MELA-AU 5 176411492 176411492 single base substitution C A upstream_gene_variant MELA-AU 5 176411572 176411572 single base substitution G A intron_variant MELA-AU 5 176411572 176411572 single base substitution G A upstream_gene_variant MELA-AU 5 176411617 176411617 single base substitution G A intron_variant MELA-AU 5 176411617 176411617 single base substitution G A upstream_gene_variant MELA-AU 5 176412649 176412649 single base substitution A G intron_variant MELA-AU 5 176412852 176412852 single base substitution C T intron_variant MELA-AU 5 176413069 176413069 single base substitution G A intron_variant MELA-AU 5 176414204 176414204 single base substitution A C intron_variant MELA-AU 5 176414461 176414461 single base substitution A G intron_variant MELA-AU 5 176414627 176414627 single base substitution G A intron_variant MELA-AU 5 176415960 176415960 single base substitution G A intron_variant MELA-AU 5 176416641 176416641 single base substitution G A intron_variant MELA-AU 5 176416877 176416877 single base substitution T C intron_variant MELA-AU 5 176417041 176417041 single base substitution G A intron_variant MELA-AU 5 176417075 176417075 single base substitution G A intron_variant MELA-AU 5 176418520 176418521 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 5 176419796 176419796 single base substitution G A intron_variant MELA-AU 5 176421016 176421016 single base substitution A C intron_variant MELA-AU 5 176421138 176421138 single base substitution C A intron_variant MELA-AU 5 176421608 176421608 single base substitution G A intron_variant MELA-AU 5 176423441 176423441 single base substitution G A intron_variant MELA-AU 5 176424893 176424893 single base substitution G A intron_variant MELA-AU 5 176425020 176425020 single base substitution A G intron_variant MELA-AU 5 176425598 176425598 single base substitution G A intron_variant MELA-AU 5 176426201 176426201 single base substitution A T intron_variant MELA-AU 5 176427223 176427223 single base substitution G A intron_variant MELA-AU 5 176428386 176428386 deletion of <=200bp G - intron_variant MELA-AU 5 176430475 176430475 single base substitution G A intron_variant MELA-AU 5 176430576 176430577 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 176431683 176431683 single base substitution G A intron_variant MELA-AU 5 176431752 176431752 single base substitution G A intron_variant MELA-AU 5 176431849 176431849 single base substitution G A intron_variant MELA-AU 5 176432178 176432178 single base substitution G A intron_variant MELA-AU 5 176432341 176432341 single base substitution G A intron_variant MELA-AU 5 176432828 176432828 single base substitution G A intron_variant MELA-AU 5 176433796 176433796 single base substitution G A intron_variant MELA-AU 5 176433796 176433796 single base substitution G A upstream_gene_variant MELA-AU 5 176434739 176434739 single base substitution G A intron_variant MELA-AU 5 176434739 176434739 single base substitution G A upstream_gene_variant MELA-AU 5 176435003 176435003 single base substitution G A intron_variant MELA-AU 5 176435003 176435003 single base substitution G A upstream_gene_variant MELA-AU 5 176435965 176435965 single base substitution A T intron_variant MELA-AU 5 176435965 176435965 single base substitution A T upstream_gene_variant MELA-AU 5 176436385 176436385 single base substitution G A intron_variant MELA-AU 5 176436385 176436385 single base substitution G A upstream_gene_variant MELA-AU 5 176436754 176436754 single base substitution G A intron_variant MELA-AU 5 176436754 176436754 single base substitution G A upstream_gene_variant MELA-AU 5 176437848 176437848 single base substitution G A intron_variant MELA-AU 5 176437848 176437848 single base substitution G A upstream_gene_variant MELA-AU 5 176437981 176437981 single base substitution C G intron_variant MELA-AU 5 176437981 176437981 single base substitution C G upstream_gene_variant MELA-AU 5 176438117 176438118 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176438117 176438118 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 176438118 176438119 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176438118 176438119 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 176438170 176438170 single base substitution G A intron_variant MELA-AU 5 176438170 176438170 single base substitution G A upstream_gene_variant MELA-AU 5 176438333 176438333 single base substitution G A intron_variant MELA-AU 5 176438333 176438333 single base substitution G A upstream_gene_variant MELA-AU 5 176438342 176438342 single base substitution G A intron_variant MELA-AU 5 176438342 176438342 single base substitution G A upstream_gene_variant MELA-AU 5 176438768 176438768 single base substitution G A intron_variant MELA-AU 5 176439013 176439014 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176439117 176439117 single base substitution T A intron_variant MELA-AU 5 176439176 176439176 single base substitution A T intron_variant MELA-AU 5 176439366 176439366 single base substitution C T intron_variant MELA-AU 5 176439540 176439540 single base substitution G A intron_variant MELA-AU 5 176440876 176440876 single base substitution G A intron_variant MELA-AU 5 176441157 176441157 single base substitution G A intron_variant MELA-AU 5 176441187 176441188 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176441852 176441852 single base substitution G A intron_variant MELA-AU 5 176442266 176442266 single base substitution G A intron_variant MELA-AU 5 176443185 176443185 single base substitution G A intron_variant MELA-AU 5 176443870 176443870 insertion of <=200bp - A intron_variant MELA-AU 5 176444581 176444581 single base substitution G A intron_variant MELA-AU 5 176445278 176445278 single base substitution G A intron_variant MELA-AU 5 176445528 176445528 single base substitution C T intron_variant MELA-AU 5 176445934 176445934 single base substitution G A intron_variant MELA-AU 5 176446104 176446104 single base substitution G A intron_variant MELA-AU 5 176446458 176446458 single base substitution G A intron_variant MELA-AU 5 176446614 176446614 single base substitution G A intron_variant MELA-AU 5 176446724 176446724 single base substitution G A intron_variant MELA-AU 5 176447567 176447567 single base substitution G A intron_variant MELA-AU 5 176447623 176447623 single base substitution G A intron_variant MELA-AU 5 176447644 176447645 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 176448604 176448604 single base substitution G A intron_variant MELA-AU 5 176449515 176449516 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 5 176449515 176449516 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 5 176449633 176449633 single base substitution G A exon_variant MELA-AU 5 176449633 176449633 single base substitution G A upstream_gene_variant MELA-AU 5 176449720 176449720 single base substitution G A upstream_gene_variant MELA-AU 5 176450305 176450305 single base substitution G A upstream_gene_variant MELA-AU 5 176450455 176450455 single base substitution C T upstream_gene_variant MELA-AU 5 176451201 176451201 single base substitution C T upstream_gene_variant MELA-AU 5 176451693 176451693 single base substitution C T upstream_gene_variant MELA-AU 5 176452891 176452891 single base substitution C T upstream_gene_variant MELA-AU 5 176453390 176453390 single base substitution C T upstream_gene_variant MELA-AU 5 176453495 176453495 single base substitution G A upstream_gene_variant MELA-AU 5 176453774 176453774 single base substitution G T upstream_gene_variant MELA-AU 5 176453979 176453979 single base substitution G A upstream_gene_variant MELA-AU 5 176454238 176454238 single base substitution G A upstream_gene_variant MELA-AU 5 176454470 176454470 single base substitution C T upstream_gene_variant ORCA-IN 5 176331311 176331311 single base substitution C G downstream_gene_variant ORCA-IN 5 176335283 176335283 single base substitution T A downstream_gene_variant ORCA-IN 5 176335283 176335283 single base substitution T A intron_variant ORCA-IN 5 176335283 176335283 single base substitution T A upstream_gene_variant ORCA-IN 5 176335654 176335654 single base substitution C G 3_prime_UTR_variant ORCA-IN 5 176335654 176335654 single base substitution C G exon_variant ORCA-IN 5 176335654 176335654 single base substitution C G missense_variant R407T 1220G>C ORCA-IN 5 176335654 176335654 single base substitution C G missense_variant R573T 1718G>C ORCA-IN 5 176335654 176335654 single base substitution C G missense_variant R574T 1721G>C ORCA-IN 5 176335654 176335654 single base substitution C G upstream_gene_variant ORCA-IN 5 176354953 176354953 single base substitution C T intron_variant ORCA-IN 5 176377210 176377210 single base substitution C G intron_variant ORCA-IN 5 176378719 176378719 single base substitution C G intron_variant ORCA-IN 5 176402749 176402749 single base substitution T C intron_variant ORCA-IN 5 176409396 176409396 single base substitution G A downstream_gene_variant ORCA-IN 5 176409396 176409396 single base substitution G A intron_variant ORCA-IN 5 176409396 176409396 single base substitution G A upstream_gene_variant ORCA-IN 5 176418541 176418541 single base substitution G C intron_variant ORCA-IN 5 176426003 176426003 single base substitution C T intron_variant ORCA-IN 5 176434070 176434070 single base substitution G A intron_variant ORCA-IN 5 176434070 176434070 single base substitution G A upstream_gene_variant ORCA-IN 5 176434904 176434904 single base substitution G C intron_variant ORCA-IN 5 176434904 176434904 single base substitution G C upstream_gene_variant ORCA-IN 5 176438704 176438704 single base substitution C T intron_variant ORCA-IN 5 176438704 176438704 single base substitution C T upstream_gene_variant ORCA-IN 5 176445523 176445523 single base substitution C G intron_variant ORCA-IN 5 176449476 176449476 single base substitution T G 5_prime_UTR_variant ORCA-IN 5 176449476 176449476 single base substitution T G exon_variant OV-AU 5 176341095 176341095 single base substitution T C intron_variant OV-AU 5 176344154 176344154 single base substitution C T intron_variant OV-AU 5 176363042 176363042 single base substitution C G intron_variant OV-AU 5 176370074 176370074 single base substitution C A intron_variant OV-AU 5 176374538 176374538 single base substitution G A intron_variant OV-AU 5 176379332 176379332 single base substitution C T intron_variant OV-AU 5 176396598 176396598 single base substitution A T downstream_gene_variant OV-AU 5 176396598 176396598 single base substitution A T intron_variant OV-AU 5 176396598 176396598 single base substitution A T splice_region_variant OV-AU 5 176396598 176396598 single base substitution A T upstream_gene_variant OV-AU 5 176397697 176397697 single base substitution T C downstream_gene_variant OV-AU 5 176397697 176397697 single base substitution T C exon_variant OV-AU 5 176397697 176397697 single base substitution T C intron_variant OV-AU 5 176397697 176397697 single base substitution T C upstream_gene_variant OV-AU 5 176401348 176401348 single base substitution A G downstream_gene_variant OV-AU 5 176401348 176401348 single base substitution A G intron_variant OV-AU 5 176403139 176403139 single base substitution A C intron_variant OV-AU 5 176403636 176403636 single base substitution G C intron_variant OV-AU 5 176409576 176409576 single base substitution G T exon_variant OV-AU 5 176409576 176409576 single base substitution G T missense_variant S14Y 41C>A OV-AU 5 176409576 176409576 single base substitution G T upstream_gene_variant OV-AU 5 176411153 176411153 single base substitution T C intron_variant OV-AU 5 176411153 176411153 single base substitution T C upstream_gene_variant OV-AU 5 176413338 176413338 single base substitution G A intron_variant OV-AU 5 176427340 176427340 single base substitution C G intron_variant OV-AU 5 176428089 176428089 single base substitution A C intron_variant OV-AU 5 176429132 176429132 single base substitution A C intron_variant OV-AU 5 176433617 176433617 single base substitution T G 5_prime_UTR_variant OV-AU 5 176433617 176433617 single base substitution T G intron_variant OV-AU 5 176433617 176433617 single base substitution T G upstream_gene_variant OV-AU 5 176438989 176438989 single base substitution G C intron_variant OV-AU 5 176439427 176439427 single base substitution A T intron_variant OV-AU 5 176449080 176449080 single base substitution A G intron_variant OV-AU 5 176454527 176454527 single base substitution C T upstream_gene_variant OV-US 5 176338311 176338311 single base substitution C T splice_donor_variant OV-US 5 176338311 176338311 single base substitution C T upstream_gene_variant OV-US 5 176396700 176396700 single base substitution C T downstream_gene_variant OV-US 5 176396700 176396700 single base substitution C T exon_variant OV-US 5 176396700 176396700 single base substitution C T intron_variant OV-US 5 176396700 176396700 single base substitution C T missense_variant R122Q 365G>A OV-US 5 176396700 176396700 single base substitution C T upstream_gene_variant OV-US 5 176409537 176409537 single base substitution G T exon_variant OV-US 5 176409537 176409537 single base substitution G T missense_variant S27Y 80C>A OV-US 5 176409537 176409537 single base substitution G T upstream_gene_variant PACA-AU 5 176330381 176330381 single base substitution T C downstream_gene_variant PACA-AU 5 176331400 176331400 single base substitution C T downstream_gene_variant PACA-AU 5 176334438 176334438 single base substitution C A downstream_gene_variant PACA-AU 5 176334438 176334438 single base substitution C A intron_variant PACA-AU 5 176334438 176334438 single base substitution C A upstream_gene_variant PACA-AU 5 176334755 176334755 single base substitution C A downstream_gene_variant PACA-AU 5 176334755 176334755 single base substitution C A intron_variant PACA-AU 5 176334755 176334755 single base substitution C A upstream_gene_variant PACA-AU 5 176335789 176335789 single base substitution C T intron_variant PACA-AU 5 176335789 176335789 single base substitution C T upstream_gene_variant PACA-AU 5 176338334 176338334 single base substitution G A 3_prime_UTR_variant PACA-AU 5 176338334 176338334 single base substitution G A exon_variant PACA-AU 5 176338334 176338334 single base substitution G A stop_gained Q386* 1156C>T PACA-AU 5 176338334 176338334 single base substitution G A stop_gained Q552* 1654C>T PACA-AU 5 176338334 176338334 single base substitution G A stop_gained Q553* 1657C>T PACA-AU 5 176338334 176338334 single base substitution G A upstream_gene_variant PACA-AU 5 176346134 176346134 single base substitution T G intron_variant PACA-AU 5 176348939 176348939 deletion of <=200bp C - intron_variant PACA-AU 5 176349100 176349100 single base substitution T G intron_variant PACA-AU 5 176350433 176350433 single base substitution C T intron_variant PACA-AU 5 176351339 176351339 single base substitution A T intron_variant PACA-AU 5 176353165 176353165 single base substitution G C intron_variant PACA-AU 5 176354493 176354493 single base substitution G T intron_variant PACA-AU 5 176356753 176356753 single base substitution C A intron_variant PACA-AU 5 176364763 176364763 single base substitution C T intron_variant PACA-AU 5 176373166 176373166 single base substitution G A intron_variant PACA-AU 5 176377475 176377475 single base substitution G A intron_variant PACA-AU 5 176378432 176378432 single base substitution C T intron_variant PACA-AU 5 176384584 176384584 single base substitution G T intron_variant PACA-AU 5 176399978 176399978 single base substitution G A downstream_gene_variant PACA-AU 5 176399978 176399978 single base substitution G A intron_variant PACA-AU 5 176399978 176399978 single base substitution G A upstream_gene_variant PACA-AU 5 176404181 176404181 single base substitution G A intron_variant PACA-AU 5 176404412 176404412 single base substitution C T intron_variant PACA-AU 5 176406793 176406793 single base substitution G A downstream_gene_variant PACA-AU 5 176406793 176406793 single base substitution G A intron_variant PACA-AU 5 176411184 176411184 single base substitution C T intron_variant PACA-AU 5 176411184 176411184 single base substitution C T upstream_gene_variant PACA-AU 5 176423381 176423381 single base substitution C T intron_variant PACA-AU 5 176438879 176438879 single base substitution G A intron_variant PACA-AU 5 176439031 176439031 single base substitution G A intron_variant PACA-AU 5 176441764 176441764 single base substitution G C intron_variant PACA-AU 5 176449837 176449837 single base substitution G C upstream_gene_variant PACA-CA 5 176334541 176334541 single base substitution G C downstream_gene_variant PACA-CA 5 176334541 176334541 single base substitution G C intron_variant PACA-CA 5 176334541 176334541 single base substitution G C upstream_gene_variant PACA-CA 5 176336261 176336262 deletion of <=200bp TT - intron_variant PACA-CA 5 176336261 176336262 deletion of <=200bp TT - upstream_gene_variant PACA-CA 5 176336851 176336851 single base substitution A C intron_variant PACA-CA 5 176336851 176336851 single base substitution A C upstream_gene_variant PACA-CA 5 176340786 176340786 single base substitution T C intron_variant PACA-CA 5 176340815 176340815 insertion of <=200bp - A intron_variant PACA-CA 5 176342354 176342354 single base substitution T C intron_variant PACA-CA 5 176342921 176342921 single base substitution A G intron_variant PACA-CA 5 176345351 176345370 deletion of <=200bp TTAATTCCTATGGCTCCTAC - intron_variant PACA-CA 5 176346450 176346450 single base substitution T A intron_variant PACA-CA 5 176355274 176355274 single base substitution G A intron_variant PACA-CA 5 176355284 176355284 single base substitution G C intron_variant PACA-CA 5 176356401 176356401 deletion of <=200bp A - intron_variant PACA-CA 5 176357091 176357091 single base substitution A G intron_variant PACA-CA 5 176360343 176360343 single base substitution A T intron_variant PACA-CA 5 176361498 176361498 single base substitution T C intron_variant PACA-CA 5 176367513 176367513 single base substitution C A intron_variant PACA-CA 5 176368398 176368398 single base substitution T C intron_variant PACA-CA 5 176376002 176376002 insertion of <=200bp - A intron_variant PACA-CA 5 176376116 176376116 single base substitution T A intron_variant PACA-CA 5 176376733 176376733 single base substitution G C intron_variant PACA-CA 5 176377247 176377247 single base substitution C T intron_variant PACA-CA 5 176379701 176379701 single base substitution G A intron_variant PACA-CA 5 176379730 176379730 single base substitution C G intron_variant PACA-CA 5 176379805 176379805 single base substitution C A intron_variant PACA-CA 5 176380188 176380188 single base substitution A C intron_variant PACA-CA 5 176381506 176381506 single base substitution C T intron_variant PACA-CA 5 176382945 176382945 single base substitution C T intron_variant PACA-CA 5 176395759 176395759 deletion of <=200bp G - 3_prime_UTR_variant PACA-CA 5 176395759 176395759 deletion of <=200bp G - downstream_gene_variant PACA-CA 5 176395759 176395759 deletion of <=200bp G - exon_variant PACA-CA 5 176395759 176395759 deletion of <=200bp G - frameshift_variant Q333 PACA-CA 5 176395759 176395759 deletion of <=200bp G - intron_variant PACA-CA 5 176395883 176395883 single base substitution C A 3_prime_UTR_variant PACA-CA 5 176395883 176395883 single base substitution C A downstream_gene_variant PACA-CA 5 176395883 176395883 single base substitution C A exon_variant PACA-CA 5 176395883 176395883 single base substitution C A intron_variant PACA-CA 5 176395883 176395883 single base substitution C A missense_variant Q291H 873G>T PACA-CA 5 176401820 176401820 single base substitution A T downstream_gene_variant PACA-CA 5 176401820 176401820 single base substitution A T intron_variant PACA-CA 5 176406096 176406096 single base substitution G A downstream_gene_variant PACA-CA 5 176406096 176406096 single base substitution G A intron_variant PACA-CA 5 176406429 176406429 single base substitution G A downstream_gene_variant PACA-CA 5 176406429 176406429 single base substitution G A intron_variant PACA-CA 5 176408828 176408828 single base substitution G A downstream_gene_variant PACA-CA 5 176408828 176408828 single base substitution G A intron_variant PACA-CA 5 176408828 176408828 single base substitution G A upstream_gene_variant PACA-CA 5 176410704 176410704 single base substitution G A intron_variant PACA-CA 5 176410704 176410704 single base substitution G A upstream_gene_variant PACA-CA 5 176415506 176415506 single base substitution G T intron_variant PACA-CA 5 176416196 176416196 deletion of <=200bp A - intron_variant PACA-CA 5 176416759 176416759 single base substitution T A intron_variant PACA-CA 5 176423778 176423778 single base substitution G A intron_variant PACA-CA 5 176429805 176429805 insertion of <=200bp - AAG intron_variant PACA-CA 5 176436030 176436030 single base substitution A T intron_variant PACA-CA 5 176436030 176436030 single base substitution A T upstream_gene_variant PACA-CA 5 176436713 176436713 single base substitution G A intron_variant PACA-CA 5 176436713 176436713 single base substitution G A upstream_gene_variant PACA-CA 5 176437407 176437407 single base substitution A G intron_variant PACA-CA 5 176437407 176437407 single base substitution A G upstream_gene_variant PACA-CA 5 176439298 176439298 single base substitution A G intron_variant PACA-CA 5 176444617 176444617 single base substitution G A intron_variant PACA-CA 5 176445045 176445045 single base substitution T A intron_variant PACA-CA 5 176445709 176445709 single base substitution A G intron_variant PACA-CA 5 176446703 176446703 single base substitution C T intron_variant PACA-CA 5 176446892 176446892 single base substitution C T intron_variant PACA-CA 5 176452010 176452010 single base substitution G A upstream_gene_variant PACA-CA 5 176454429 176454429 single base substitution A G upstream_gene_variant PAEN-AU 5 176341080 176341080 single base substitution C T intron_variant PAEN-AU 5 176351056 176351056 single base substitution C T intron_variant PAEN-AU 5 176356756 176356756 single base substitution A C intron_variant PAEN-AU 5 176360689 176360689 single base substitution C T intron_variant PAEN-AU 5 176384519 176384519 single base substitution C T intron_variant PAEN-AU 5 176389523 176389523 single base substitution T G intron_variant PAEN-AU 5 176421742 176421742 single base substitution A G intron_variant PAEN-AU 5 176442582 176442582 single base substitution C G intron_variant PAEN-IT 5 176336511 176336511 single base substitution G T intron_variant PAEN-IT 5 176336511 176336511 single base substitution G T upstream_gene_variant PAEN-IT 5 176366450 176366450 single base substitution T C intron_variant PAEN-IT 5 176367925 176367925 single base substitution G T intron_variant PAEN-IT 5 176417831 176417831 single base substitution C A intron_variant PBCA-DE 5 176330971 176330971 single base substitution C T downstream_gene_variant PBCA-DE 5 176342879 176342879 single base substitution G T intron_variant PBCA-DE 5 176350889 176350889 single base substitution T C intron_variant PBCA-DE 5 176356346 176356346 insertion of <=200bp - CT intron_variant PBCA-DE 5 176363940 176363940 single base substitution C T intron_variant PBCA-DE 5 176365025 176365025 single base substitution C A intron_variant PBCA-DE 5 176365242 176365242 deletion of <=200bp A - intron_variant PBCA-DE 5 176367579 176367579 insertion of <=200bp - A intron_variant PBCA-DE 5 176394366 176394366 single base substitution T C downstream_gene_variant PBCA-DE 5 176394366 176394366 single base substitution T C intron_variant PBCA-DE 5 176413900 176413900 single base substitution A T intron_variant PBCA-DE 5 176419648 176419648 single base substitution T A intron_variant PBCA-DE 5 176436256 176436256 single base substitution C T intron_variant PBCA-DE 5 176436256 176436256 single base substitution C T upstream_gene_variant PBCA-DE 5 176438616 176438616 single base substitution A T intron_variant PBCA-DE 5 176438616 176438616 single base substitution A T upstream_gene_variant PBCA-DE 5 176438951 176438951 single base substitution G A intron_variant PRAD-CA 5 176338113 176338113 single base substitution G A intron_variant PRAD-CA 5 176338113 176338113 single base substitution G A upstream_gene_variant PRAD-CA 5 176338118 176338118 single base substitution A G intron_variant PRAD-CA 5 176338118 176338118 single base substitution A G upstream_gene_variant PRAD-CA 5 176341070 176341070 single base substitution T C intron_variant PRAD-CA 5 176350875 176350875 single base substitution A T intron_variant PRAD-CA 5 176350889 176350889 single base substitution T C intron_variant PRAD-CA 5 176350901 176350901 single base substitution G C intron_variant PRAD-CA 5 176350905 176350905 single base substitution C G intron_variant PRAD-CA 5 176357164 176357164 single base substitution G T intron_variant PRAD-CA 5 176360542 176360542 single base substitution C T intron_variant PRAD-CA 5 176379207 176379207 single base substitution A C intron_variant PRAD-CA 5 176424048 176424048 single base substitution C T intron_variant PRAD-CA 5 176428088 176428088 single base substitution C T intron_variant PRAD-CA 5 176428157 176428157 single base substitution C T intron_variant PRAD-CA 5 176429133 176429133 single base substitution C A intron_variant PRAD-UK 5 176333062 176333062 single base substitution G T downstream_gene_variant PRAD-UK 5 176333062 176333062 single base substitution G T exon_variant PRAD-UK 5 176333062 176333062 single base substitution G T intron_variant PRAD-UK 5 176356900 176356900 single base substitution T G intron_variant PRAD-UK 5 176360990 176360990 single base substitution C G intron_variant PRAD-UK 5 176374919 176374919 single base substitution A G intron_variant PRAD-UK 5 176378531 176378531 single base substitution A C 3_prime_UTR_variant PRAD-UK 5 176378531 176378531 single base substitution A C exon_variant PRAD-UK 5 176378531 176378531 single base substitution A C missense_variant S297A 889T>G PRAD-UK 5 176378531 176378531 single base substitution A C missense_variant S463A 1387T>G PRAD-UK 5 176394300 176394300 single base substitution A C downstream_gene_variant PRAD-UK 5 176394300 176394300 single base substitution A C intron_variant PRAD-UK 5 176395986 176395986 single base substitution C A 3_prime_UTR_variant PRAD-UK 5 176395986 176395986 single base substitution C A downstream_gene_variant PRAD-UK 5 176395986 176395986 single base substitution C A intron_variant PRAD-UK 5 176395986 176395986 single base substitution C A missense_variant C257F 770G>T PRAD-UK 5 176395986 176395986 single base substitution C A upstream_gene_variant PRAD-UK 5 176418867 176418867 single base substitution A C intron_variant PRAD-UK 5 176423292 176423292 single base substitution G A intron_variant PRAD-UK 5 176432779 176432779 single base substitution T G intron_variant PRAD-UK 5 176433711 176433711 single base substitution A T 5_prime_UTR_variant PRAD-UK 5 176433711 176433711 single base substitution A T intron_variant PRAD-UK 5 176433711 176433711 single base substitution A T upstream_gene_variant PRAD-UK 5 176452835 176452835 single base substitution C G upstream_gene_variant PRAD-US 5 176396017 176396017 single base substitution C A 3_prime_UTR_variant PRAD-US 5 176396017 176396017 single base substitution C A downstream_gene_variant PRAD-US 5 176396017 176396017 single base substitution C A intron_variant PRAD-US 5 176396017 176396017 single base substitution C A missense_variant V247F 739G>T PRAD-US 5 176396017 176396017 single base substitution C A upstream_gene_variant RECA-EU 5 176332276 176332276 single base substitution T A 3_prime_UTR_variant RECA-EU 5 176332276 176332276 single base substitution T A downstream_gene_variant RECA-EU 5 176332276 176332276 single base substitution T A exon_variant RECA-EU 5 176339059 176339059 single base substitution A C intron_variant RECA-EU 5 176339059 176339059 single base substitution A C upstream_gene_variant RECA-EU 5 176342043 176342043 single base substitution G A intron_variant RECA-EU 5 176347648 176347648 single base substitution C A intron_variant RECA-EU 5 176354444 176354444 single base substitution G T intron_variant RECA-EU 5 176363228 176363228 single base substitution G T intron_variant RECA-EU 5 176363229 176363229 single base substitution T A intron_variant RECA-EU 5 176363231 176363231 single base substitution C A intron_variant RECA-EU 5 176373301 176373301 single base substitution C G intron_variant RECA-EU 5 176400591 176400591 single base substitution A G downstream_gene_variant RECA-EU 5 176400591 176400591 single base substitution A G intron_variant RECA-EU 5 176400591 176400591 single base substitution A G upstream_gene_variant RECA-EU 5 176407891 176407891 single base substitution G A downstream_gene_variant RECA-EU 5 176407891 176407891 single base substitution G A intron_variant RECA-EU 5 176407891 176407891 single base substitution G A upstream_gene_variant RECA-EU 5 176414637 176414637 single base substitution G T intron_variant RECA-EU 5 176417440 176417440 single base substitution C A intron_variant RECA-EU 5 176441063 176441063 single base substitution T C intron_variant SKCA-BR 5 176332171 176332171 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 176332171 176332171 single base substitution G A downstream_gene_variant SKCA-BR 5 176337915 176337915 single base substitution A C intron_variant SKCA-BR 5 176337915 176337915 single base substitution A C upstream_gene_variant SKCA-BR 5 176338133 176338176 deletion of <=200bp AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG - intron_variant SKCA-BR 5 176338133 176338176 deletion of <=200bp AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG - upstream_gene_variant SKCA-BR 5 176338153 176338176 deletion of <=200bp AAAGAAAAGAAAAGAAAAGAAAAG - intron_variant SKCA-BR 5 176338153 176338176 deletion of <=200bp AAAGAAAAGAAAAGAAAAGAAAAG - upstream_gene_variant SKCA-BR 5 176338163 176338176 deletion of <=200bp AAAGAAAAGAAAAG - intron_variant SKCA-BR 5 176338163 176338176 deletion of <=200bp AAAGAAAAGAAAAG - upstream_gene_variant SKCA-BR 5 176338173 176338176 deletion of <=200bp AAAG - intron_variant SKCA-BR 5 176338173 176338176 deletion of <=200bp AAAG - upstream_gene_variant SKCA-BR 5 176340798 176340798 single base substitution T G intron_variant SKCA-BR 5 176341075 176341075 single base substitution C T intron_variant SKCA-BR 5 176342066 176342066 single base substitution G A intron_variant SKCA-BR 5 176342405 176342405 single base substitution T C intron_variant SKCA-BR 5 176344180 176344180 single base substitution G A intron_variant SKCA-BR 5 176344331 176344331 single base substitution G A intron_variant SKCA-BR 5 176348734 176348734 single base substitution A C intron_variant SKCA-BR 5 176350864 176350866 deletion of <=200bp CAA - intron_variant SKCA-BR 5 176350875 176350875 single base substitution A T intron_variant SKCA-BR 5 176350889 176350889 single base substitution T C intron_variant SKCA-BR 5 176354225 176354227 deletion of <=200bp AAG - intron_variant SKCA-BR 5 176355884 176355884 single base substitution G A intron_variant SKCA-BR 5 176356495 176356495 single base substitution G A intron_variant SKCA-BR 5 176359720 176359720 single base substitution C T intron_variant SKCA-BR 5 176366257 176366257 insertion of <=200bp - CA intron_variant SKCA-BR 5 176366274 176366274 single base substitution G A intron_variant SKCA-BR 5 176366284 176366284 single base substitution G A intron_variant SKCA-BR 5 176368835 176368835 single base substitution G A intron_variant SKCA-BR 5 176373208 176373208 single base substitution A C intron_variant SKCA-BR 5 176380539 176380539 single base substitution G A intron_variant SKCA-BR 5 176387127 176387127 single base substitution G A intron_variant SKCA-BR 5 176388900 176388900 single base substitution A G intron_variant SKCA-BR 5 176389001 176389001 single base substitution A G intron_variant SKCA-BR 5 176390522 176390523 deletion of <=200bp TA - intron_variant SKCA-BR 5 176392888 176392888 single base substitution A T downstream_gene_variant SKCA-BR 5 176392888 176392888 single base substitution A T intron_variant SKCA-BR 5 176396915 176396915 single base substitution A G downstream_gene_variant SKCA-BR 5 176396915 176396915 single base substitution A G intron_variant SKCA-BR 5 176396915 176396915 single base substitution A G upstream_gene_variant SKCA-BR 5 176396922 176396922 single base substitution C A downstream_gene_variant SKCA-BR 5 176396922 176396922 single base substitution C A intron_variant SKCA-BR 5 176396922 176396922 single base substitution C A upstream_gene_variant SKCA-BR 5 176401721 176401721 single base substitution G A downstream_gene_variant SKCA-BR 5 176401721 176401721 single base substitution G A intron_variant SKCA-BR 5 176405149 176405149 single base substitution G A downstream_gene_variant SKCA-BR 5 176405149 176405149 single base substitution G A intron_variant SKCA-BR 5 176405365 176405365 single base substitution C T downstream_gene_variant SKCA-BR 5 176405365 176405365 single base substitution C T intron_variant SKCA-BR 5 176405417 176405417 single base substitution G A downstream_gene_variant SKCA-BR 5 176405417 176405417 single base substitution G A intron_variant SKCA-BR 5 176407680 176407680 single base substitution A T downstream_gene_variant SKCA-BR 5 176407680 176407680 single base substitution A T intron_variant SKCA-BR 5 176407680 176407680 single base substitution A T upstream_gene_variant SKCA-BR 5 176410225 176410225 insertion of <=200bp - GCCCTCT intron_variant SKCA-BR 5 176410225 176410225 insertion of <=200bp - GCCCTCT upstream_gene_variant SKCA-BR 5 176410426 176410426 single base substitution G A intron_variant SKCA-BR 5 176410426 176410426 single base substitution G A upstream_gene_variant SKCA-BR 5 176411075 176411075 single base substitution G T intron_variant SKCA-BR 5 176411075 176411075 single base substitution G T upstream_gene_variant SKCA-BR 5 176411116 176411116 single base substitution T C intron_variant SKCA-BR 5 176411116 176411116 single base substitution T C upstream_gene_variant SKCA-BR 5 176415131 176415133 deletion of <=200bp CAA - intron_variant SKCA-BR 5 176415837 176415837 single base substitution A C intron_variant SKCA-BR 5 176418724 176418724 single base substitution G A intron_variant SKCA-BR 5 176419380 176419380 single base substitution C T intron_variant SKCA-BR 5 176420181 176420181 insertion of <=200bp - CA intron_variant SKCA-BR 5 176421511 176421512 deletion of <=200bp TA - intron_variant SKCA-BR 5 176425447 176425447 single base substitution G A intron_variant SKCA-BR 5 176426759 176426759 single base substitution A G intron_variant SKCA-BR 5 176431601 176431601 single base substitution G A intron_variant SKCA-BR 5 176433809 176433809 single base substitution A C intron_variant SKCA-BR 5 176433809 176433809 single base substitution A C upstream_gene_variant SKCA-BR 5 176434341 176434341 insertion of <=200bp - CAAA intron_variant SKCA-BR 5 176434341 176434341 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 5 176438492 176438492 single base substitution G A intron_variant SKCA-BR 5 176438492 176438492 single base substitution G A upstream_gene_variant SKCA-BR 5 176439980 176439980 single base substitution G C intron_variant SKCA-BR 5 176442958 176442958 single base substitution C G intron_variant SKCA-BR 5 176444842 176444842 single base substitution A G intron_variant SKCA-BR 5 176444861 176444861 single base substitution C T intron_variant SKCA-BR 5 176446616 176446616 single base substitution G A intron_variant SKCA-BR 5 176446628 176446628 insertion of <=200bp - GA intron_variant SKCA-BR 5 176447346 176447346 single base substitution C T intron_variant SKCA-BR 5 176449971 176449971 single base substitution A G upstream_gene_variant SKCA-BR 5 176454234 176454234 single base substitution C T upstream_gene_variant SKCA-BR 5 176454326 176454326 single base substitution A G upstream_gene_variant SKCM-US 5 176332391 176332391 single base substitution G A 3_prime_UTR_variant SKCM-US 5 176332391 176332391 single base substitution G A downstream_gene_variant SKCM-US 5 176332391 176332391 single base substitution G A exon_variant SKCM-US 5 176332391 176332391 single base substitution G A synonymous_variant S518S 1554C>T SKCM-US 5 176332391 176332391 single base substitution G A synonymous_variant S684S 2052C>T SKCM-US 5 176332391 176332391 single base substitution G A synonymous_variant S685S 2055C>T SKCM-US 5 176332394 176332394 single base substitution A C 3_prime_UTR_variant SKCM-US 5 176332394 176332394 single base substitution A C downstream_gene_variant SKCM-US 5 176332394 176332394 single base substitution A C exon_variant SKCM-US 5 176332394 176332394 single base substitution A C synonymous_variant V517V 1551T>G SKCM-US 5 176332394 176332394 single base substitution A C synonymous_variant V683V 2049T>G SKCM-US 5 176332394 176332394 single base substitution A C synonymous_variant V684V 2052T>G SKCM-US 5 176334117 176334117 single base substitution G A downstream_gene_variant SKCM-US 5 176334117 176334117 single base substitution G A missense_variant S471L 1412C>T SKCM-US 5 176334117 176334117 single base substitution G A missense_variant S637L 1910C>T SKCM-US 5 176334117 176334117 single base substitution G A missense_variant S638L 1913C>T SKCM-US 5 176334117 176334117 single base substitution G A splice_region_variant SKCM-US 5 176334117 176334117 single base substitution G A upstream_gene_variant SKCM-US 5 176378527 176378527 single base substitution G A 3_prime_UTR_variant SKCM-US 5 176378527 176378527 single base substitution G A exon_variant SKCM-US 5 176378527 176378527 single base substitution G A missense_variant P298L 893C>T SKCM-US 5 176378527 176378527 single base substitution G A missense_variant P464L 1391C>T SKCM-US 5 176395770 176395770 single base substitution G A 3_prime_UTR_variant SKCM-US 5 176395770 176395770 single base substitution G A downstream_gene_variant SKCM-US 5 176395770 176395770 single base substitution G A exon_variant SKCM-US 5 176395770 176395770 single base substitution G A intron_variant SKCM-US 5 176395770 176395770 single base substitution G A missense_variant P329L 986C>T SKCM-US 5 176395857 176395857 single base substitution A G 3_prime_UTR_variant SKCM-US 5 176395857 176395857 single base substitution A G downstream_gene_variant SKCM-US 5 176395857 176395857 single base substitution A G exon_variant SKCM-US 5 176395857 176395857 single base substitution A G intron_variant SKCM-US 5 176395857 176395857 single base substitution A G missense_variant L300S 899T>C SKCM-US 5 176396036 176396036 single base substitution A G 3_prime_UTR_variant SKCM-US 5 176396036 176396036 single base substitution A G downstream_gene_variant SKCM-US 5 176396036 176396036 single base substitution A G intron_variant SKCM-US 5 176396036 176396036 single base substitution A G synonymous_variant G240G 720T>C SKCM-US 5 176396036 176396036 single base substitution A G upstream_gene_variant SKCM-US 5 176396235 176396235 single base substitution T A 3_prime_UTR_variant SKCM-US 5 176396235 176396235 single base substitution T A downstream_gene_variant SKCM-US 5 176396235 176396235 single base substitution T A intron_variant SKCM-US 5 176396235 176396235 single base substitution T A missense_variant N174I 521A>T SKCM-US 5 176396235 176396235 single base substitution T A upstream_gene_variant SKCM-US 5 176396646 176396646 single base substitution G A downstream_gene_variant SKCM-US 5 176396646 176396646 single base substitution G A exon_variant SKCM-US 5 176396646 176396646 single base substitution G A intron_variant SKCM-US 5 176396646 176396646 single base substitution G A missense_variant S140F 419C>T SKCM-US 5 176396646 176396646 single base substitution G A upstream_gene_variant SKCM-US 5 176409486 176409486 single base substitution G A downstream_gene_variant SKCM-US 5 176409486 176409486 single base substitution G A exon_variant SKCM-US 5 176409486 176409486 single base substitution G A missense_variant S44F 131C>T SKCM-US 5 176409486 176409486 single base substitution G A upstream_gene_variant STAD-US 5 176332464 176332464 single base substitution C T 3_prime_UTR_variant STAD-US 5 176332464 176332464 single base substitution C T downstream_gene_variant STAD-US 5 176332464 176332464 single base substitution C T exon_variant STAD-US 5 176332464 176332464 single base substitution C T missense_variant G494D 1481G>A STAD-US 5 176332464 176332464 single base substitution C T missense_variant G660D 1979G>A STAD-US 5 176332464 176332464 single base substitution C T missense_variant G661D 1982G>A STAD-US 5 176333041 176333041 single base substitution G A 3_prime_UTR_variant STAD-US 5 176333041 176333041 single base substitution G A downstream_gene_variant STAD-US 5 176333041 176333041 single base substitution G A exon_variant STAD-US 5 176333041 176333041 single base substitution G A synonymous_variant D474D 1422C>T STAD-US 5 176333041 176333041 single base substitution G A synonymous_variant D640D 1920C>T STAD-US 5 176333041 176333041 single base substitution G A synonymous_variant D641D 1923C>T STAD-US 5 176370441 176370441 single base substitution A T 3_prime_UTR_variant STAD-US 5 176370441 176370441 single base substitution A T exon_variant STAD-US 5 176370441 176370441 single base substitution A T missense_variant S332T 994T>A STAD-US 5 176370441 176370441 single base substitution A T missense_variant S498T 1492T>A STAD-US 5 176396164 176396164 single base substitution A T 3_prime_UTR_variant STAD-US 5 176396164 176396164 single base substitution A T downstream_gene_variant STAD-US 5 176396164 176396164 single base substitution A T intron_variant STAD-US 5 176396164 176396164 single base substitution A T missense_variant S198T 592T>A STAD-US 5 176396164 176396164 single base substitution A T upstream_gene_variant STAD-US 5 176397788 176397788 single base substitution C T downstream_gene_variant STAD-US 5 176397788 176397788 single base substitution C T exon_variant STAD-US 5 176397788 176397788 single base substitution C T synonymous_variant E104E 312G>A STAD-US 5 176397788 176397788 single base substitution C T upstream_gene_variant THCA-SA 5 176378574 176378574 single base substitution G T 3_prime_UTR_variant THCA-SA 5 176378574 176378574 single base substitution G T exon_variant THCA-SA 5 176378574 176378574 single base substitution G T synonymous_variant T282T 846C>A THCA-SA 5 176378574 176378574 single base substitution G T synonymous_variant T448T 1344C>A THCA-SA 5 176402401 176402401 single base substitution G A downstream_gene_variant THCA-SA 5 176402401 176402401 single base substitution G A exon_variant THCA-SA 5 176402401 176402401 single base substitution G A synonymous_variant I76I 228C>T UCEC-US 5 176333019 176333019 single base substitution C A 3_prime_UTR_variant UCEC-US 5 176333019 176333019 single base substitution C A downstream_gene_variant UCEC-US 5 176333019 176333019 single base substitution C A exon_variant UCEC-US 5 176333019 176333019 single base substitution C A missense_variant A482S 1444G>T UCEC-US 5 176333019 176333019 single base substitution C A missense_variant A648S 1942G>T UCEC-US 5 176333019 176333019 single base substitution C A missense_variant A649S 1945G>T UCEC-US 5 176335628 176335628 single base substitution A G 3_prime_UTR_variant UCEC-US 5 176335628 176335628 single base substitution A G downstream_gene_variant UCEC-US 5 176335628 176335628 single base substitution A G missense_variant C416R 1246T>C UCEC-US 5 176335628 176335628 single base substitution A G missense_variant C582R 1744T>C UCEC-US 5 176335628 176335628 single base substitution A G missense_variant C583R 1747T>C UCEC-US 5 176335628 176335628 single base substitution A G upstream_gene_variant UCEC-US 5 176335689 176335689 single base substitution C A 3_prime_UTR_variant UCEC-US 5 176335689 176335689 single base substitution C A exon_variant UCEC-US 5 176335689 176335689 single base substitution C A missense_variant E395D 1185G>T UCEC-US 5 176335689 176335689 single base substitution C A missense_variant E561D 1683G>T UCEC-US 5 176335689 176335689 single base substitution C A missense_variant E562D 1686G>T UCEC-US 5 176335689 176335689 single base substitution C A upstream_gene_variant UCEC-US 5 176370377 176370377 single base substitution C T 3_prime_UTR_variant UCEC-US 5 176370377 176370377 single base substitution C T exon_variant UCEC-US 5 176370377 176370377 single base substitution C T missense_variant R353Q 1058G>A UCEC-US 5 176370377 176370377 single base substitution C T missense_variant R519Q 1556G>A UCEC-US 5 176370378 176370378 single base substitution G A 3_prime_UTR_variant UCEC-US 5 176370378 176370378 single base substitution G A exon_variant UCEC-US 5 176370378 176370378 single base substitution G A stop_gained R353* 1057C>T UCEC-US 5 176370378 176370378 single base substitution G A stop_gained R519* 1555C>T UCEC-US 5 176370441 176370441 single base substitution A C 3_prime_UTR_variant UCEC-US 5 176370441 176370441 single base substitution A C exon_variant UCEC-US 5 176370441 176370441 single base substitution A C missense_variant S332A 994T>G UCEC-US 5 176370441 176370441 single base substitution A C missense_variant S498A 1492T>G UCEC-US 5 176395581 176395581 single base substitution T C 3_prime_UTR_variant UCEC-US 5 176395581 176395581 single base substitution T C downstream_gene_variant UCEC-US 5 176395581 176395581 single base substitution T C exon_variant UCEC-US 5 176395581 176395581 single base substitution T C intron_variant UCEC-US 5 176395581 176395581 single base substitution T C missense_variant E392G 1175A>G UCEC-US 5 176395609 176395609 single base substitution T G 3_prime_UTR_variant UCEC-US 5 176395609 176395609 single base substitution T G downstream_gene_variant UCEC-US 5 176395609 176395609 single base substitution T G exon_variant UCEC-US 5 176395609 176395609 single base substitution T G intron_variant UCEC-US 5 176395609 176395609 single base substitution T G missense_variant S383R 1147A>C UCEC-US 5 176395953 176395953 single base substitution T C 3_prime_UTR_variant UCEC-US 5 176395953 176395953 single base substitution T C downstream_gene_variant UCEC-US 5 176395953 176395953 single base substitution T C intron_variant UCEC-US 5 176395953 176395953 single base substitution T C missense_variant Q268R 803A>G UCEC-US 5 176395953 176395953 single base substitution T C upstream_gene_variant UCEC-US 5 176396116 176396116 single base substitution C T 3_prime_UTR_variant UCEC-US 5 176396116 176396116 single base substitution C T downstream_gene_variant UCEC-US 5 176396116 176396116 single base substitution C T intron_variant UCEC-US 5 176396116 176396116 single base substitution C T missense_variant V214I 640G>A UCEC-US 5 176396116 176396116 single base substitution C T upstream_gene_variant UCEC-US 5 176396234 176396234 single base substitution G A 3_prime_UTR_variant UCEC-US 5 176396234 176396234 single base substitution G A downstream_gene_variant UCEC-US 5 176396234 176396234 single base substitution G A intron_variant UCEC-US 5 176396234 176396234 single base substitution G A synonymous_variant N174N 522C>T UCEC-US 5 176396234 176396234 single base substitution G A upstream_gene_variant UCEC-US 5 176396247 176396248 deletion of <=200bp AT - 3_prime_UTR_variant UCEC-US 5 176396247 176396248 deletion of <=200bp AT - downstream_gene_variant UCEC-US 5 176396247 176396248 deletion of <=200bp AT - frameshift_variant I170 UCEC-US 5 176396247 176396248 deletion of <=200bp AT - intron_variant UCEC-US 5 176396247 176396248 deletion of <=200bp AT - upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Z138 COSM1739165 c.1813G>C p.E605Q Substitution - Missense 5:176908558-176908558 - ESCC_BICR_060T COSM5435117 c.2035G>A p.V679I Substitution - Missense 5:176905407-176905407 - CHC909T COSM4806367 c.1747C>A p.L583I Substitution - Missense 5:176908624-176908624 - TCGA-B5-A0JY-01 COSM1066129 c.1683G>T p.E561D Substitution - Missense 5:176908688-176908688 - Pat_26_A COSM5868221 c.1147delA p.S383fs*2 Deletion - Frameshift 5:176968608-176968608 - TCGA-23-1117-01 COSM76951 c.365G>A p.R122Q Substitution - Missense 5:176969699-176969699 - TCGA-FU-A3TQ-01 COSM4854817 c.977C>G p.P326R Substitution - Missense 5:176968778-176968778 - TCGA-BS-A0UV-01 COSM1066131 c.1555C>T p.R519* Substitution - Nonsense 5:176943377-176943377 - CoCM-1 COSM4621184 c.1505A>C p.Q502P Substitution - Missense 5:176943427-176943427 - C008 COSM5524140 c.742C>T p.Q248* Substitution - Nonsense 5:176969013-176969013 - TCGA-HU-A4GT-01 COSM3853928 c.592T>A p.S198T Substitution - Missense 5:176969163-176969163 - YUDEXA COSM1696790 c.1297C>T p.L433F Substitution - Missense 5:176956001-176956001 - TCGA-21-5787-01 COSM737621 c.1871G>T p.R624L Substitution - Missense 5:176907155-176907155 - sysucc-311T COSM5466395 c.1383A>C p.E461D Substitution - Missense 5:176951534-176951534 - TCGA-23-1123-01 COSM69409 c.1676+1G>A p.? Unknown 5:176911310-176911310 - TCGA-FS-A1ZT-06 COSM3614454 c.521A>T p.N174I Substitution - Missense 5:176969234-176969234 - TCGA-B1-A656-01 COSM4413925 c.1094G>A p.R365K Substitution - Missense 5:176968661-176968661 - ICGC_0026 COSM218841 c.1654C>T p.Q552* Substitution - Nonsense 5:176911333-176911333 - ESCC_68 COSM5634011 c.1045A>G p.I349V Substitution - Missense 5:176968710-176968710 - CSCC-29-T COSM4562055 c.90G>A p.V30V Substitution - coding silent 5:176982526-176982526 - TCGA-G4-6588-01 COSM1436218 c.2112T>C p.G704G Substitution - coding silent 5:176905330-176905330 - Pat_26_B COSM5868221 c.1147delA p.S383fs*2 Deletion - Frameshift 5:176968608-176968608 - T2940 COSM737621 c.1871G>T p.R624L Substitution - Missense 5:176907155-176907155 - TCGA-FD-A3SO-01 COSM3776544 c.510C>G p.I170M Substitution - Missense 5:176969245-176969245 - YUWAND COSM1696791 c.1129C>T p.Q377* Substitution - Nonsense 5:176968626-176968626 - ME049T COSM230084 c.286G>A p.A96T Substitution - Missense 5:176970813-176970813 - TCGA-CJ-4893-01 COSM3365998 c.1323A>G p.E441E Substitution - coding silent 5:176955975-176955975 - 345973 COSM3726476 c.2011C>T p.R671C Substitution - Missense 5:176905431-176905431 - TCGA-B0-5097-01 COSM482555 c.232C>T p.Q78* Substitution - Nonsense 5:176975396-176975396 - TARGET-30-PATFXV COSM1288823 c.2106G>T p.Q702H Substitution - Missense 5:176905336-176905336 - HCC2998 COSM3340843 c.175A>C p.K59Q Substitution - Missense 5:176975453-176975453 - AOCS-137-1-X COSM4141696 c.463+4T>A p.? Unknown 5:176969597-176969597 - TCGA-AP-A059-01 COSM1066127 c.1942G>T p.A648S Substitution - Missense 5:176906018-176906018 - TCGA-AM-5820-01 COSM3761130 c.228C>T p.I76I Substitution - coding silent 5:176975400-176975400 - D16 COSM5007124 c.387C>G p.T129T Substitution - coding silent 5:176969677-176969677 - TCGA-EB-A431-01 COSM3340844 c.131C>T p.S44F Substitution - Missense 5:176982485-176982485 - 66 COSM5743100 c.1165_1166delTT p.L389fs*18 Deletion - Frameshift 5:176968589-176968590 - AOCS-088-3-8 COSM4141697 c.41C>A p.S14Y Substitution - Missense 5:176982575-176982575 - STC291 COSM5060962 c.330G>A p.L110L Substitution - coding silent 5:176970769-176970769 - CHC909T COSM4806367 c.1747C>A p.L583I Substitution - Missense 5:176908624-176908624 - CP66-MEL COSM26517 c.143G>A p.G48E Substitution - Missense 5:176982473-176982473 - HCC50 COSM1620086 c.312G>A p.E104E Substitution - coding silent 5:176970787-176970787 - S02219 COSM5675792 c.1095G>A p.R365R Substitution - coding silent 5:176968660-176968660 - 0109_CRUK_PC_0109_T1_DNA COSM5422341 c.770G>T p.C257F Substitution - Missense 5:176968985-176968985 - PDA_074 COSM3761129 c.1304C>T p.P435L Substitution - Missense 5:176955994-176955994 - CSCC-10-T COSM4514936 c.991C>T p.L331L Substitution - coding silent 5:176968764-176968764 - CSCC-31-T COSM4476005 c.2033C>T p.P678L Substitution - Missense 5:176905409-176905409 - BD124T COSM5491975 c.464G>A p.G155D Substitution - Missense 5:176969291-176969291 - T2269 COSM4739147 c.1225A>C p.T409P Substitution - Missense 5:176958130-176958130 - TCGA-B5-A0JY-01 COSM1066134 c.1147A>C p.S383R Substitution - Missense 5:176968608-176968608 - S01512 COSM316362 c.77G>C p.S26T Substitution - Missense 5:176982539-176982539 - TCGA-A6-6140-01 COSM3761130 c.228C>T p.I76I Substitution - coding silent 5:176975400-176975400 - TCGA-AG-A032-01 COSM76951 c.365G>A p.R122Q Substitution - Missense 5:176969699-176969699 - LS411 COSM3340812 c.1670T>C p.I557T Substitution - Missense 5:176911317-176911317 - 19M COSM5579946 c.1229C>T p.S410F Substitution - Missense 5:176958126-176958126 - S01512 COSM316362 c.77G>C p.S26T Substitution - Missense 5:176982539-176982539 - TCGA-AP-A0LM-01 COSM1066130 c.1556G>A p.R519Q Substitution - Missense 5:176943376-176943376 - TCGA-C8-A27A-01 COSM1486621 c.461A>G p.E154G Substitution - Missense 5:176969603-176969603 - TCGA-HU-A4H3-01 COSM1620086 c.312G>A p.E104E Substitution - coding silent 5:176970787-176970787 - YUZINO COSM1696789 c.1786G>A p.G596R Substitution - Missense 5:176908585-176908585 - TCGA-EE-A2GU-06 COSM3614453 c.720T>C p.G240G Substitution - coding silent 5:176969035-176969035 - 8014825 COSM218841 c.1654C>T p.Q552* Substitution - Nonsense 5:176911333-176911333 - HCC131T COSM5824546 c.321G>A p.E107E Substitution - coding silent 5:176970778-176970778 - Pat_14_A COSM5868222 c.357+2delT p.? Unknown 5:176970740-176970740 - TCGA-A6-6140-01 COSM3761129 c.1304C>T p.P435L Substitution - Missense 5:176955994-176955994 - PCSI_0170_Pa_P_526 COSM4964943 c.873G>T p.Q291H Substitution - Missense 5:176968882-176968882 - TCGA-BF-A1PX-01 COSM4905205 c.986C>T p.P329L Substitution - Missense 5:176968769-176968769 - TCGA-A6-6650-01 COSM5091514 c.1847delA p.K616fs*59 Deletion - Frameshift 5:176908524-176908524 - CSCC-6-T COSM4476885 c.2103C>T p.V701V Substitution - coding silent 5:176905339-176905339 - TCGA-AA-3510-01 COSM1436225 c.180G>T p.T60T Substitution - coding silent 5:176975448-176975448 - HCC50T COSM1620086 c.312G>A p.E104E Substitution - coding silent 5:176970787-176970787 - TCGA-BR-7851-01 COSM3853925 c.1979G>A p.G660D Substitution - Missense 5:176905463-176905463 - TCGA-AA-3492-01 COSM1436221 c.747T>C p.G249G Substitution - coding silent 5:176969008-176969008 - TCGA-BP-5170-01 COSM482553 c.2074T>C p.L692L Substitution - coding silent 5:176905368-176905368 - T2940 COSM4739148 c.754_755insG p.D252fs*4 Insertion - Frameshift 5:176969000-176969001 - PT09_2 COSM5894829 c.1364C>T p.T455I Substitution - Missense 5:176951553-176951553 - TCGA-B5-A0JY-01 COSM1066133 c.1175A>G p.E392G Substitution - Missense 5:176968580-176968580 - TCGA-FD-A3SS-01 COSM3776545 c.41C>T p.S14F Substitution - Missense 5:176982575-176982575 - ccRCC-84 COSM1664887 c.1926G>T p.K642N Substitution - Missense 5:176906034-176906034 - TCGA-G9-6371-01 COSM1132201 c.739G>T p.V247F Substitution - Missense 5:176969016-176969016 - Pat_41_B COSM5868220 c.2003C>T p.S668F Substitution - Missense 5:176905439-176905439 - 545 COSM3340809 c.2015G>A p.R672H Substitution - Missense 5:176905427-176905427 - 61 COSM5737434 c.1975G>A p.A659T Substitution - Missense 5:176905467-176905467 - TCGA-D1-A0ZO-01 COSM1066128 c.1744T>C p.C582R Substitution - Missense 5:176908627-176908627 - 18 COSM5744870 c.2123G>A p.R708Q Substitution - Missense 5:176905319-176905319 - TCGA-AM-5820-01 COSM3761128 c.1531T>C p.C511R Substitution - Missense 5:176943401-176943401 - 7313 COSM5617277 c.579G>T p.P193P Substitution - coding silent 5:176969176-176969176 - TCGA-G9-6338-01 COSM3674401 c.2034C>A p.P678P Substitution - coding silent 5:176905408-176905408 - TCGA-EE-A2GM-06 COSM3614455 c.419C>T p.S140F Substitution - Missense 5:176969645-176969645 - ESCC_BICR_063T COSM5437035 c.123delT p.I41fs*2 Deletion - Frameshift 5:176982493-176982493 - TCGA-EE-A2GP-06 COSM3614450 c.2052C>T p.S684S Substitution - coding silent 5:176905390-176905390 - TCGA-BR-6802-01 COSM3853926 c.1920C>T p.D640D Substitution - coding silent 5:176906040-176906040 - OSCC-GB_00940111 COSM4891608 c.1718G>C p.R573T Substitution - Missense 5:176908653-176908653 - YUDON COSM5403141 c.1260A>G p.Q420Q Substitution - coding silent 5:176958095-176958095 - TCGA-BS-A0UJ-01 COSM1066135 c.803A>G p.Q268R Substitution - Missense 5:176968952-176968952 - TCGA-D1-A0ZZ-01 COSM1066137 c.522C>T p.N174N Substitution - coding silent 5:176969233-176969233 - Pat_54_A COSM3614451 c.1910C>T p.S637L Substitution - Missense 5:176907116-176907116 - TCGA-D1-A174-01 COSM1066138 c.508_509delAT p.I170fs*7 Deletion - Frameshift 5:176969246-176969247 - 2521260 COSM5891390 c.997C>T p.Q333* Substitution - Nonsense 5:176968758-176968758 - TCGA-04-1338-01 COSM115702 c.1029T>G p.S343R Substitution - Missense 5:176968726-176968726 - PT09_1 COSM5894829 c.1364C>T p.T455I Substitution - Missense 5:176951553-176951553 - TCGA-EB-A431-01 COSM3614452 c.899T>C p.L300S Substitution - Missense 5:176968856-176968856 - SNU-175 COSM3340838 c.413C>T p.P138L Substitution - Missense 5:176969651-176969651 - TCGA-BP-4166-01 COSM3365996 c.1898A>G p.E633G Substitution - Missense 5:176907128-176907128 - TCGA-FS-A4FB-06 COSM3614451 c.1910C>T p.S637L Substitution - Missense 5:176907116-176907116 - TCGA-FW-A3R5-06 COSM3919738 c.1391C>T p.P464L Substitution - Missense 5:176951526-176951526 - TCGA-D9-A6EA-06 COSM4397941 c.2049T>G p.V683V Substitution - coding silent 5:176905393-176905393 - CSCC-29-T COSM4523752 c.1231G>A p.E411K Substitution - Missense 5:176958124-176958124 - TCGA-B5-A11E-01 COSM1066132 c.1492T>G p.S498A Substitution - Missense 5:176943440-176943440 - TCGA-CG-5717-01 COSM3853927 c.1492T>A p.S498T Substitution - Missense 5:176943440-176943440 - TCGA-13-0893-01 COSM76952 c.80C>A p.S27Y Substitution - Missense 5:176982536-176982536 - TCGA-CM-4752-01 COSM1436220 c.1125T>C p.D375D Substitution - coding silent 5:176968630-176968630 - 19 COSM5746510 c.635T>C p.V212A Substitution - Missense 5:176969120-176969120 - TCGA-CA-6717-01 COSM1436219 c.1912G>A p.D638N Substitution - Missense 5:176907114-176907114 - TCGA-B0-4814-01 COSM3365997 c.1643G>T p.G548V Substitution - Missense 5:176911344-176911344 - SNUH_G16_S1 COSM4003460 c.1344C>A p.T448T Substitution - coding silent 5:176951573-176951573 - TCGA-GD-A3OP-01 COSM1310999 c.1471G>A p.E491K Substitution - Missense 5:176943461-176943461 - 436 COSM4434076 c.257C>G p.A86G Substitution - Missense 5:176970842-176970842 - BD121T COSM1066130 c.1556G>A p.R519Q Substitution - Missense 5:176943376-176943376 - TCGA-BS-A0UV-01 COSM1066136 c.640G>A p.V214I Substitution - Missense 5:176969115-176969115 - S00946 COSM316361 c.885C>T p.V295V Substitution - coding silent 5:176968870-176968870 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.232649;Hs.232673;Hs.232684;Hs.232721 5q35.2 609433 2390947|CGAP|BC006078|G/T|coding|Ala242Ser|797|Validated; 1512549|dbSNP|BC006078|G/T|non-coding||1795|Candidate; 1512549|dbSNP|BC032561|G/T|coding|Glu408Asp|1278|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S343R c.1029T>G 5 176395727 OV AGGG - IntronicDeletion . c.1443+2028_1443+2031delCCCT 5 176376444 CLL A G Missense p.C582R c.1744T>C 5 176335628 UCEC A G Synonymous p.G240G c.720T>C 5 176396036 CM A G Synonymous p.L692L c.2074T>C 5 176332369 RCCC AT - Frameshift p.I170Qfs*7 c.508_509delAT 5 176396247 UCEC C A Missense p.G548V c.1643G>T 5 176338345 RCCC C A Missense p.Q702H c.2106G>T 5 176332337 NB C A Missense p.R624L c.1871G>T 5 176334156 LUSC C A Missense p.V247F c.739G>T 5 176396017 PRAD C A Synonymous p.P193P c.579G>T 5 176396177 NSCLC C G Missense p.E340Q c.1018G>C 5 176395738 HNSC C G Missense p.E595Q c.1783G>C 5 176335589 LUAD C G Missense p.L389F c.1167G>C 5 176395589 COREAD C G Missense p.S26T c.77G>C 5 176409540 SCLC C T Missense p.A96T c.286G>A 5 176397814 CM C T Missense p.E491K c.1471G>A 5 176370462 BLCA C T Missense p.R122Q c.365G>A 5 176396700 COREAD C T Missense p.R122Q c.365G>A 5 176396700 OV C T SpliceDonorSNV . c.1676+1G>A 5 176338311 OV G A 3-UTRSNV . c.2157+15C>T 5 176332271 CM G A IntronicSNV . c.357+124C>T 5 176397619 CM G A Missense p.P329L c.986C>T 5 176395770 CM G A Missense p.P678L c.2033C>T 5 176332410 CM G A Missense p.S140F c.419C>T 5 176396646 CM G A Nonsense p.Q552* c.1654C>T 5 176338334 PAAD G A Nonsense p.Q78* c.232C>T 5 176402397 RCCC G A Synonymous p.D640D c.1920C>T 5 176333041 STAD G A Synonymous p.L244L c.732C>T 5 176396024 HNSC G A Synonymous p.N174N c.522C>T 5 176396234 UCEC G A Synonymous p.S684S c.2052C>T 5 176332391 CM G A Synonymous p.V295V c.885C>T 5 176395871 SCLC G T Missense p.P464Q c.1391C>A 5 176378527 CM G T Missense p.S27Y c.80C>A 5 176409537 OV G T Synonymous p.L152L c.456C>A 5 176396609 HNSC G T Synonymous p.P678P c.2034C>A 5 176332409 PRAD T A Missense p.K710I c.2129A>T 5 176332314 LUAD T A Missense p.N174I c.521A>T 5 176396235 CM T C IntronicSNV . c.357+273A>G 5 176397470 HC T C Missense p.E154G c.461A>G 5 176396604 BRCA T C Missense p.E633G c.1898A>G 5 176334129 RCCC T C Missense p.Y575C c.1724A>G 5 176335648 BRCA T C Synonymous p.E441E c.1323A>G 5 176382976 RCCC