Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 13 113909353 113909353 + Nonsense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr13:113909353G>T c.1945G>T c.(1945-1947)Gaa>Taa p.E649* BLCA 13 113887597 113887597 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr13:113887597G>A c.619G>A c.(619-621)Gag>Aag p.E207K BLCA 13 113889383 113889383 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr13:113889383G>C c.772G>C c.(772-774)Gaa>Caa p.E258Q BLCA 13 113893793 113893793 + Silent SNP G G A TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr13:113893793G>A c.963G>A c.(961-963)caG>caA p.Q321Q BLCA 13 113893835 113893835 + Silent SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr13:113893835G>T c.1005G>T c.(1003-1005)gcG>gcT p.A335A BLCA 13 113897470 113897470 + Silent SNP G G A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr13:113897470G>A c.1224G>A c.(1222-1224)ctG>ctA p.L408L BLCA 13 113899466 113899467 + Splice_Site INS - - GT TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr13:113899466_113899467insGT c.1445_1446insGT c.(1444-1449)gagtgc>gaGTgtgc p.EC482fs BLCA 13 113900284 113900284 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr13:113900284G>T c.1545G>T c.(1543-1545)caG>caT p.Q515H BLCA 13 113915001 113915001 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr13:113915001G>A c.2112G>A c.(2110-2112)atG>atA p.M704I BRCA 13 113897392 113897392 + Silent SNP G G A TCGA-D8-A1XR-01A-11D-A14K-09 TCGA-D8-A1XR-10A-01D-A14K-09 g.chr13:113897392G>A c.1146G>A c.(1144-1146)aaG>aaA p.K382K BRCA 13 113898800 113898800 + Missense_Mutation SNP G G C TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 g.chr13:113898800G>C c.1305G>C c.(1303-1305)aaG>aaC p.K435N BRCA 13 113899465 113899465 + Splice_Site SNP G G A TCGA-E2-A2P6-01A-11D-A19Y-09 TCGA-E2-A2P6-10B-01D-A19Y-09 g.chr13:113899465G>A c.e14-1 BRCA 13 113914970 113914970 + Missense_Mutation SNP A A G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 g.chr13:113914970A>G c.2081A>G c.(2080-2082)tAt>tGt p.Y694C CESC 13 113893808 113893808 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr13:113893808C>T c.978C>T c.(976-978)ttC>ttT p.F326F CESC 13 113899366 113899366 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr13:113899366C>T c.1437C>T c.(1435-1437)ctC>ctT p.L479L CESC 13 113909425 113909425 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr13:113909425C>G c.2017C>G c.(2017-2019)Cag>Gag p.Q673E CESC 13 113915001 113915001 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr13:113915001G>A c.2112G>A c.(2110-2112)atG>atA p.M704I COAD 13 113889431 113889431 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr13:113889431G>A c.820G>A c.(820-822)Gta>Ata p.V274I COAD 13 113893823 113893823 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr13:113893823C>T c.993C>T c.(991-993)ggC>ggT p.G331G COAD 13 113897294 113897294 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:113897294G>A c.1048G>A c.(1048-1050)Gcg>Acg p.A350T COAD 13 113899322 113899323 + Frame_Shift_Del DEL AA AA - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr13:113899322_113899323delAA c.1393_1394delAA c.(1393-1395)aaafs p.K465fs COAD 13 113907430 113907430 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:113907430A>G c.1673A>G c.(1672-1674)tAt>tGt p.Y558C COAD 13 113909022 113909022 + Nonsense_Mutation SNP C C T TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr13:113909022C>T c.1768C>T c.(1768-1770)Cag>Tag p.Q590* COAD 13 113909023 113909023 + Missense_Mutation SNP A A G TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr13:113909023A>G c.1769A>G c.(1768-1770)cAg>cGg p.Q590R COAD 13 113909024 113909024 + Missense_Mutation SNP G G T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr13:113909024G>T c.1770G>T c.(1768-1770)caG>caT p.Q590H COAD 13 113909434 113909434 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:113909434G>A c.2026G>A c.(2026-2028)Gaa>Aaa p.E676K COAD 13 113917887 113917887 + Silent SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr13:113917887C>T c.2271C>T c.(2269-2271)taC>taT p.Y757Y COADREAD 13 113889431 113889431 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr13:113889431G>A c.820G>A c.(820-822)Gta>Ata p.V274I COADREAD 13 113893823 113893823 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr13:113893823C>T c.993C>T c.(991-993)ggC>ggT p.G331G COADREAD 13 113897294 113897294 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:113897294G>A c.1048G>A c.(1048-1050)Gcg>Acg p.A350T COADREAD 13 113897299 113897299 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:113897299C>T c.1053C>T c.(1051-1053)atC>atT p.I351I COADREAD 13 113899322 113899323 + Frame_Shift_Del DEL AA AA - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr13:113899322_113899323delAA c.1393_1394delAA c.(1393-1395)aaafs p.K465fs COADREAD 13 113907430 113907430 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:113907430A>G c.1673A>G c.(1672-1674)tAt>tGt p.Y558C COADREAD 13 113909022 113909022 + Nonsense_Mutation SNP C C T TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr13:113909022C>T c.1768C>T c.(1768-1770)Cag>Tag p.Q590* COADREAD 13 113909023 113909023 + Missense_Mutation SNP A A G TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr13:113909023A>G c.1769A>G c.(1768-1770)cAg>cGg p.Q590R COADREAD 13 113909024 113909024 + Missense_Mutation SNP G G T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr13:113909024G>T c.1770G>T c.(1768-1770)caG>caT p.Q590H COADREAD 13 113909434 113909434 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:113909434G>A c.2026G>A c.(2026-2028)Gaa>Aaa p.E676K COADREAD 13 113917887 113917887 + Silent SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr13:113917887C>T c.2271C>T c.(2269-2271)taC>taT p.Y757Y DLBC 13 113882307 113882307 + Missense_Mutation SNP T T C TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr13:113882307T>C c.386T>C c.(385-387)gTt>gCt p.V129A DLBC 13 113909008 113909008 + Splice_Site SNP G G A TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr13:113909008G>A c.1754G>A c.(1753-1755)gGg>gAg p.G585E DLBC 13 113909104 113909104 + Missense_Mutation SNP C C T TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chr13:113909104C>T c.1850C>T c.(1849-1851)aCg>aTg p.T617M ESCA 13 113898809 113898809 + Silent SNP C C A TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 g.chr13:113898809C>A c.1314C>A c.(1312-1314)atC>atA p.I438I GBMLGG 13 113891149 113891149 + Silent SNP T T C TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr13:113891149T>C c.861T>C c.(859-861)atT>atC p.I287I HNSC 13 113887572 113887572 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr13:113887572G>A c.594G>A c.(592-594)ctG>ctA p.L198L HNSC 13 113888215 113888215 + Missense_Mutation SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr13:113888215A>G c.680A>G c.(679-681)tAt>tGt p.Y227C HNSC 13 113893751 113893751 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr13:113893751C>T c.921C>T c.(919-921)ctC>ctT p.L307L HNSC 13 113914958 113914958 + Missense_Mutation SNP A A C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr13:113914958A>C c.2069A>C c.(2068-2070)cAg>cCg p.Q690P KIPAN 13 113893814 113893814 + Silent SNP G G C TCGA-SX-A7SO-01A-11D-A34Z-10 TCGA-SX-A7SO-10A-01D-A34Z-10 g.chr13:113893814G>C c.984G>C c.(982-984)cgG>cgC p.R328R KIPAN 13 113915023 113915023 + Missense_Mutation SNP C C G TCGA-GL-8500-01A-11D-2396-08 TCGA-GL-8500-10A-01D-2396-08 g.chr13:113915023C>G c.2134C>G c.(2134-2136)Cat>Gat p.H712D KIRP 13 113893814 113893814 + Silent SNP G G C TCGA-SX-A7SO-01A-11D-A34Z-10 TCGA-SX-A7SO-10A-01D-A34Z-10 g.chr13:113893814G>C c.984G>C c.(982-984)cgG>cgC p.R328R KIRP 13 113915023 113915023 + Missense_Mutation SNP C C G TCGA-GL-8500-01A-11D-2396-08 TCGA-GL-8500-10A-01D-2396-08 g.chr13:113915023C>G c.2134C>G c.(2134-2136)Cat>Gat p.H712D LGG 13 113891149 113891149 + Silent SNP T T C TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr13:113891149T>C c.861T>C c.(859-861)atT>atC p.I287I LIHC 13 113882334 113882334 + Missense_Mutation SNP G G T TCGA-DD-AACB-01A-11D-A40R-10 TCGA-DD-AACB-10A-01D-A40U-10 g.chr13:113882334G>T c.413G>T c.(412-414)tGc>tTc p.C138F LIHC 13 113898777 113898777 + Nonsense_Mutation SNP G G T TCGA-DD-A3A2-01A-11D-A20W-10 TCGA-DD-A3A2-11A-11D-A20W-10 g.chr13:113898777G>T c.1282G>T c.(1282-1284)Gag>Tag p.E428* LIHC 13 113900301 113900301 + Missense_Mutation SNP T T C TCGA-DD-AADE-01A-11D-A40R-10 TCGA-DD-AADE-10A-01D-A40U-10 g.chr13:113900301T>C c.1562T>C c.(1561-1563)aTa>aCa p.I521T LUAD 13 113883759 113883759 + Splice_Site SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr13:113883759G>C c.e5-1 LUAD 13 113887578 113887578 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 g.chr13:113887578C>T c.600C>T c.(598-600)atC>atT p.I200I LUAD 13 113893788 113893788 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr13:113893788G>T c.958G>T c.(958-960)Gca>Tca p.A320S LUAD 13 113897369 113897369 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr13:113897369G>A c.1123G>A c.(1123-1125)Gtg>Atg p.V375M LUAD 13 113897418 113897418 + Missense_Mutation SNP A A G TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr13:113897418A>G c.1172A>G c.(1171-1173)aAg>aGg p.K391R LUAD 13 113897452 113897452 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr13:113897452C>T c.1206C>T c.(1204-1206)ccC>ccT p.P402P LUAD 13 113907459 113907459 + Nonsense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr13:113907459C>T c.1702C>T c.(1702-1704)Cag>Tag p.Q568* LUAD 13 113907476 113907476 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr13:113907476G>T c.1719G>T c.(1717-1719)ttG>ttT p.L573F PAAD 13 113907464 113907464 + Nonsense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 g.chr13:113907464G>A c.1707G>A c.(1705-1707)tgG>tgA p.W569* PCPG 13 113888241 113888241 + Silent SNP T T C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 g.chr13:113888241T>C c.706T>C c.(706-708)Ttg>Ctg p.L236L PRAD 13 113887612 113887612 + Missense_Mutation SNP A A C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 g.chr13:113887612A>C c.634A>C c.(634-636)Agc>Cgc p.S212R PRAD 13 113897425 113897425 + Silent SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr13:113897425C>A c.1179C>A c.(1177-1179)tcC>tcA p.S393S PRAD 13 113899533 113899533 + Silent SNP C C T TCGA-ZG-A8QW-01A-11D-A377-08 TCGA-ZG-A8QW-10A-01D-A37A-08 g.chr13:113899533C>T c.1512C>T c.(1510-1512)atC>atT p.I504I PRAD 13 113909105 113909105 + Silent SNP G G A TCGA-V1-A8X3-01A-11D-A377-08 TCGA-V1-A8X3-10A-01D-A37A-08 g.chr13:113909105G>A c.1851G>A c.(1849-1851)acG>acA p.T617T READ 13 113897299 113897299 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:113897299C>T c.1053C>T c.(1051-1053)atC>atT p.I351I SKCM 13 113897351 113897351 + Missense_Mutation SNP A A C TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr13:113897351A>C c.1105A>C c.(1105-1107)Aag>Cag p.K369Q SKCM 13 113898732 113898732 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr13:113898732G>A c.1237G>A c.(1237-1239)Gtg>Atg p.V413M SKCM 13 113899312 113899312 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr13:113899312C>T c.1383C>T c.(1381-1383)ctC>ctT p.L461L SKCM 13 113899313 113899313 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr13:113899313C>T c.1384C>T c.(1384-1386)Ctt>Ttt p.L462F SKCM 13 113899540 113899540 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr13:113899540C>T c.1519C>T c.(1519-1521)Cat>Tat p.H507Y SKCM 13 113909009 113909009 + Silent SNP G G T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr13:113909009G>T c.1755G>T c.(1753-1755)ggG>ggT p.G585G SKCM 13 113909011 113909011 + Missense_Mutation SNP A A G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr13:113909011A>G c.1757A>G c.(1756-1758)aAg>aGg p.K586R SKCM 13 113909298 113909298 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr13:113909298C>T c.1890C>T c.(1888-1890)tcC>tcT p.S630S SKCM 13 113909298 113909298 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:113909298C>T c.1890C>T c.(1888-1890)tcC>tcT p.S630S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 13 113917835 113917835 single base substitution T A exon_variant BLCA-CN 13 113917835 113917835 single base substitution T A missense_variant I640K 1919T>A BLCA-CN 13 113917835 113917835 single base substitution T A missense_variant I740K 2219T>A BLCA-US 13 113887597 113887597 single base substitution G A downstream_gene_variant BLCA-US 13 113887597 113887597 single base substitution G A exon_variant BLCA-US 13 113887597 113887597 single base substitution G A missense_variant E107K 319G>A BLCA-US 13 113887597 113887597 single base substitution G A missense_variant E207K 619G>A BLCA-US 13 113893835 113893835 single base substitution G T downstream_gene_variant BLCA-US 13 113893835 113893835 single base substitution G T synonymous_variant A235A 705G>T BLCA-US 13 113893835 113893835 single base substitution G T synonymous_variant A335A 1005G>T BLCA-US 13 113893835 113893835 single base substitution G T upstream_gene_variant BLCA-US 13 113900284 113900284 single base substitution G T exon_variant BLCA-US 13 113900284 113900284 single base substitution G T missense_variant Q415H 1245G>T BLCA-US 13 113900284 113900284 single base substitution G T missense_variant Q515H 1545G>T BOCA-FR 13 113869866 113869866 single base substitution G A intron_variant BRCA-EU 13 113857929 113857929 single base substitution G A upstream_gene_variant BRCA-EU 13 113858020 113858020 single base substitution C G upstream_gene_variant BRCA-EU 13 113858103 113858103 single base substitution G A upstream_gene_variant BRCA-EU 13 113859659 113859659 single base substitution G A upstream_gene_variant BRCA-EU 13 113859679 113859679 insertion of <=200bp - A upstream_gene_variant BRCA-EU 13 113860981 113860981 single base substitution T C upstream_gene_variant BRCA-EU 13 113862571 113862571 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 13 113862571 113862571 single base substitution C T upstream_gene_variant BRCA-EU 13 113862948 113862948 single base substitution T A intron_variant BRCA-EU 13 113862948 113862948 single base substitution T A upstream_gene_variant BRCA-EU 13 113863016 113863016 single base substitution C T intron_variant BRCA-EU 13 113863016 113863016 single base substitution C T upstream_gene_variant BRCA-EU 13 113863282 113863325 deletion of <=200bp CTTGTGAAAACCAGGCCGCGGAGGACCCTCCGCGCCTGGCTGGG - intron_variant BRCA-EU 13 113863282 113863325 deletion of <=200bp CTTGTGAAAACCAGGCCGCGGAGGACCCTCCGCGCCTGGCTGGG - upstream_gene_variant BRCA-EU 13 113863645 113863645 single base substitution G A intron_variant BRCA-EU 13 113863645 113863645 single base substitution G A upstream_gene_variant BRCA-EU 13 113864846 113864846 single base substitution G C intron_variant BRCA-EU 13 113868797 113868797 single base substitution T G intron_variant BRCA-EU 13 113869748 113869748 single base substitution C A intron_variant BRCA-EU 13 113869862 113869862 single base substitution T C intron_variant BRCA-EU 13 113871500 113871500 single base substitution T G intron_variant BRCA-EU 13 113873650 113873650 single base substitution A G exon_variant BRCA-EU 13 113873650 113873650 single base substitution A G intron_variant BRCA-EU 13 113877562 113877562 single base substitution C G downstream_gene_variant BRCA-EU 13 113877562 113877562 single base substitution C G intron_variant BRCA-EU 13 113877742 113877742 single base substitution C G downstream_gene_variant BRCA-EU 13 113877742 113877742 single base substitution C G intron_variant BRCA-EU 13 113877769 113877769 single base substitution G A downstream_gene_variant BRCA-EU 13 113877769 113877769 single base substitution G A intron_variant BRCA-EU 13 113877828 113877828 single base substitution C T downstream_gene_variant BRCA-EU 13 113877828 113877828 single base substitution C T intron_variant BRCA-EU 13 113878746 113878746 single base substitution C T downstream_gene_variant BRCA-EU 13 113878746 113878746 single base substitution C T intron_variant BRCA-EU 13 113879020 113879020 single base substitution C G downstream_gene_variant BRCA-EU 13 113879020 113879020 single base substitution C G intron_variant BRCA-EU 13 113879959 113879959 single base substitution C G intron_variant BRCA-EU 13 113880533 113880533 single base substitution T C intron_variant BRCA-EU 13 113880561 113880561 single base substitution C G intron_variant BRCA-EU 13 113882422 113882422 single base substitution G C downstream_gene_variant BRCA-EU 13 113882422 113882422 single base substitution G C intron_variant BRCA-EU 13 113883511 113883511 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 113883511 113883511 deletion of <=200bp A - intron_variant BRCA-EU 13 113884446 113884446 single base substitution C T downstream_gene_variant BRCA-EU 13 113884446 113884446 single base substitution C T exon_variant BRCA-EU 13 113884446 113884446 single base substitution C T intron_variant BRCA-EU 13 113888667 113888667 single base substitution A T downstream_gene_variant BRCA-EU 13 113888667 113888667 single base substitution A T intron_variant BRCA-EU 13 113888678 113888678 single base substitution G A downstream_gene_variant BRCA-EU 13 113888678 113888678 single base substitution G A intron_variant BRCA-EU 13 113889910 113889910 single base substitution G A intron_variant BRCA-EU 13 113890496 113890496 single base substitution C T intron_variant BRCA-EU 13 113891021 113891021 single base substitution C A intron_variant BRCA-EU 13 113892610 113892610 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 113892610 113892610 deletion of <=200bp T - intron_variant BRCA-EU 13 113893672 113893672 single base substitution G A downstream_gene_variant BRCA-EU 13 113893672 113893672 single base substitution G A intron_variant BRCA-EU 13 113893672 113893672 single base substitution G A upstream_gene_variant BRCA-EU 13 113894362 113894362 single base substitution A T downstream_gene_variant BRCA-EU 13 113894362 113894362 single base substitution A T intron_variant BRCA-EU 13 113894362 113894362 single base substitution A T upstream_gene_variant BRCA-EU 13 113896239 113896239 single base substitution C T intron_variant BRCA-EU 13 113896239 113896239 single base substitution C T upstream_gene_variant BRCA-EU 13 113897049 113897049 single base substitution G A intron_variant BRCA-EU 13 113897049 113897049 single base substitution G A upstream_gene_variant BRCA-EU 13 113897209 113897209 single base substitution A G intron_variant BRCA-EU 13 113897209 113897209 single base substitution A G upstream_gene_variant BRCA-EU 13 113897490 113897490 insertion of <=200bp - T intron_variant BRCA-EU 13 113897490 113897490 insertion of <=200bp - T upstream_gene_variant BRCA-EU 13 113898404 113898404 single base substitution G C intron_variant BRCA-EU 13 113898404 113898404 single base substitution G C upstream_gene_variant BRCA-EU 13 113899723 113899723 deletion of <=200bp T - intron_variant BRCA-EU 13 113899723 113899723 deletion of <=200bp T - upstream_gene_variant BRCA-EU 13 113900008 113900008 single base substitution C T intron_variant BRCA-EU 13 113900008 113900008 single base substitution C T upstream_gene_variant BRCA-EU 13 113900510 113900522 deletion of <=200bp ATGGTCTTTGGAA - intron_variant BRCA-EU 13 113900515 113900515 single base substitution C G intron_variant BRCA-EU 13 113902553 113902553 single base substitution G T intron_variant BRCA-EU 13 113903499 113903520 deletion of <=200bp CGTGCTGTTTTCAAAGTCCATC - intron_variant BRCA-EU 13 113903572 113903572 single base substitution G C intron_variant BRCA-EU 13 113904166 113904166 single base substitution G A intron_variant BRCA-EU 13 113909185 113909185 single base substitution G A downstream_gene_variant BRCA-EU 13 113909185 113909185 single base substitution G A intron_variant BRCA-EU 13 113909433 113909433 single base substitution G T downstream_gene_variant BRCA-EU 13 113909433 113909433 single base substitution G T exon_variant BRCA-EU 13 113909433 113909433 single base substitution G T missense_variant K575N 1725G>T BRCA-EU 13 113909433 113909433 single base substitution G T missense_variant K675N 2025G>T BRCA-EU 13 113910035 113910035 single base substitution C G downstream_gene_variant BRCA-EU 13 113910035 113910035 single base substitution C G intron_variant BRCA-EU 13 113910389 113910389 single base substitution C G downstream_gene_variant BRCA-EU 13 113910389 113910389 single base substitution C G intron_variant BRCA-EU 13 113910628 113910628 single base substitution C T downstream_gene_variant BRCA-EU 13 113910628 113910628 single base substitution C T intron_variant BRCA-EU 13 113911435 113911435 single base substitution C T downstream_gene_variant BRCA-EU 13 113911435 113911435 single base substitution C T intron_variant BRCA-EU 13 113911581 113911581 deletion of <=200bp T - downstream_gene_variant BRCA-EU 13 113911581 113911581 deletion of <=200bp T - intron_variant BRCA-EU 13 113911582 113911582 single base substitution T G downstream_gene_variant BRCA-EU 13 113911582 113911582 single base substitution T G intron_variant BRCA-EU 13 113912400 113912400 single base substitution C T downstream_gene_variant BRCA-EU 13 113912400 113912400 single base substitution C T intron_variant BRCA-EU 13 113912999 113912999 single base substitution G C downstream_gene_variant BRCA-EU 13 113912999 113912999 single base substitution G C intron_variant BRCA-EU 13 113913317 113913317 single base substitution G A downstream_gene_variant BRCA-EU 13 113913317 113913317 single base substitution G A intron_variant BRCA-EU 13 113913897 113913897 single base substitution C T downstream_gene_variant BRCA-EU 13 113913897 113913897 single base substitution C T intron_variant BRCA-EU 13 113914215 113914215 single base substitution C A intron_variant BRCA-EU 13 113914535 113914535 single base substitution C A intron_variant BRCA-EU 13 113915735 113915735 single base substitution C G intron_variant BRCA-EU 13 113915760 113915760 single base substitution A G intron_variant BRCA-EU 13 113917086 113917086 single base substitution C T intron_variant BRCA-EU 13 113917582 113917582 insertion of <=200bp - T intron_variant BRCA-EU 13 113918517 113918517 single base substitution G C 3_prime_UTR_variant BRCA-EU 13 113918517 113918517 single base substitution G C downstream_gene_variant BRCA-EU 13 113920214 113920214 single base substitution C T downstream_gene_variant BRCA-EU 13 113920326 113920326 single base substitution G C downstream_gene_variant BRCA-EU 13 113920841 113920841 single base substitution G C downstream_gene_variant BRCA-EU 13 113922488 113922488 deletion of <=200bp G - downstream_gene_variant BRCA-EU 13 113923224 113923224 single base substitution G T downstream_gene_variant BRCA-EU 13 113923718 113923718 single base substitution G T downstream_gene_variant BRCA-EU 13 113923760 113923760 single base substitution G A downstream_gene_variant BRCA-FR 13 113858103 113858103 single base substitution G A upstream_gene_variant BRCA-FR 13 113862571 113862571 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 13 113862571 113862571 single base substitution C T upstream_gene_variant BRCA-FR 13 113902553 113902553 single base substitution G T intron_variant BRCA-FR 13 113913897 113913897 single base substitution C T downstream_gene_variant BRCA-FR 13 113913897 113913897 single base substitution C T intron_variant BRCA-FR 13 113915735 113915735 single base substitution C G intron_variant BRCA-FR 13 113920841 113920841 single base substitution G C downstream_gene_variant BRCA-FR 13 113923224 113923224 single base substitution G T downstream_gene_variant BRCA-KR 13 113917833 113917833 single base substitution G A exon_variant BRCA-KR 13 113917833 113917833 single base substitution G A synonymous_variant L639L 1917G>A BRCA-KR 13 113917833 113917833 single base substitution G A synonymous_variant L739L 2217G>A BRCA-UK 13 113909299 113909299 single base substitution C T downstream_gene_variant BRCA-UK 13 113909299 113909299 single base substitution C T exon_variant BRCA-UK 13 113909299 113909299 single base substitution C T synonymous_variant L531L 1591C>T BRCA-UK 13 113909299 113909299 single base substitution C T synonymous_variant L631L 1891C>T BRCA-UK 13 113914553 113914553 single base substitution G T intron_variant BRCA-UK 13 113915760 113915760 single base substitution A G intron_variant BRCA-US 13 113897392 113897392 single base substitution G A synonymous_variant K282K 846G>A BRCA-US 13 113897392 113897392 single base substitution G A synonymous_variant K382K 1146G>A BRCA-US 13 113897392 113897392 single base substitution G A upstream_gene_variant BRCA-US 13 113898800 113898800 single base substitution G C exon_variant BRCA-US 13 113898800 113898800 single base substitution G C missense_variant K335N 1005G>C BRCA-US 13 113898800 113898800 single base substitution G C missense_variant K435N 1305G>C BRCA-US 13 113898800 113898800 single base substitution G C upstream_gene_variant BRCA-US 13 113899465 113899465 single base substitution G A splice_acceptor_variant BRCA-US 13 113899465 113899465 single base substitution G A upstream_gene_variant BRCA-US 13 113914970 113914970 single base substitution A G intron_variant BRCA-US 13 113914970 113914970 single base substitution A G missense_variant Y594C 1781A>G BRCA-US 13 113914970 113914970 single base substitution A G missense_variant Y694C 2081A>G BTCA-JP 13 113873369 113873369 deletion of <=200bp T - splice_region_variant BTCA-JP 13 113883617 113883617 deletion of <=200bp A - downstream_gene_variant BTCA-JP 13 113883617 113883617 deletion of <=200bp A - intron_variant BTCA-JP 13 113909288 113909288 single base substitution C T downstream_gene_variant BTCA-JP 13 113909288 113909288 single base substitution C T exon_variant BTCA-JP 13 113909288 113909288 single base substitution C T missense_variant T527M 1580C>T BTCA-JP 13 113909288 113909288 single base substitution C T missense_variant T627M 1880C>T CESC-US 13 113893808 113893808 single base substitution C T downstream_gene_variant CESC-US 13 113893808 113893808 single base substitution C T synonymous_variant F226F 678C>T CESC-US 13 113893808 113893808 single base substitution C T synonymous_variant F326F 978C>T CESC-US 13 113893808 113893808 single base substitution C T upstream_gene_variant CESC-US 13 113899366 113899366 single base substitution C T exon_variant CESC-US 13 113899366 113899366 single base substitution C T synonymous_variant L379L 1137C>T CESC-US 13 113899366 113899366 single base substitution C T synonymous_variant L479L 1437C>T CESC-US 13 113899366 113899366 single base substitution C T upstream_gene_variant CESC-US 13 113909425 113909425 single base substitution C G downstream_gene_variant CESC-US 13 113909425 113909425 single base substitution C G exon_variant CESC-US 13 113909425 113909425 single base substitution C G missense_variant Q573E 1717C>G CESC-US 13 113909425 113909425 single base substitution C G missense_variant Q673E 2017C>G CESC-US 13 113915001 113915001 single base substitution G A intron_variant CESC-US 13 113915001 113915001 single base substitution G A missense_variant M604I 1812G>A CESC-US 13 113915001 113915001 single base substitution G A missense_variant M704I 2112G>A CLLE-ES 13 113885430 113885430 single base substitution T C downstream_gene_variant CLLE-ES 13 113885430 113885430 single base substitution T C intron_variant CLLE-ES 13 113917623 113917623 single base substitution G C intron_variant CLLE-ES 13 113921632 113921632 single base substitution C A downstream_gene_variant COAD-US 13 113882344 113882344 single base substitution C T downstream_gene_variant COAD-US 13 113882344 113882344 single base substitution C T exon_variant COAD-US 13 113882344 113882344 single base substitution C T synonymous_variant D141D 423C>T COAD-US 13 113882344 113882344 single base substitution C T synonymous_variant D41D 123C>T COAD-US 13 113889431 113889431 single base substitution G A downstream_gene_variant COAD-US 13 113889431 113889431 single base substitution G A exon_variant COAD-US 13 113889431 113889431 single base substitution G A missense_variant V174I 520G>A COAD-US 13 113889431 113889431 single base substitution G A missense_variant V274I 820G>A COAD-US 13 113897320 113897320 single base substitution C T synonymous_variant D258D 774C>T COAD-US 13 113897320 113897320 single base substitution C T synonymous_variant D358D 1074C>T COAD-US 13 113897320 113897320 single base substitution C T upstream_gene_variant COAD-US 13 113907430 113907430 single base substitution A G exon_variant COAD-US 13 113907430 113907430 single base substitution A G missense_variant Y458C 1373A>G COAD-US 13 113907430 113907430 single base substitution A G missense_variant Y558C 1673A>G COAD-US 13 113909339 113909339 single base substitution A G downstream_gene_variant COAD-US 13 113909339 113909339 single base substitution A G exon_variant COAD-US 13 113909339 113909339 single base substitution A G missense_variant K544R 1631A>G COAD-US 13 113909339 113909339 single base substitution A G missense_variant K644R 1931A>G COAD-US 13 113909434 113909434 single base substitution G A downstream_gene_variant COAD-US 13 113909434 113909434 single base substitution G A exon_variant COAD-US 13 113909434 113909434 single base substitution G A missense_variant E576K 1726G>A COAD-US 13 113909434 113909434 single base substitution G A missense_variant E676K 2026G>A COCA-CN 13 113869862 113869862 single base substitution T C intron_variant COCA-CN 13 113873203 113873203 single base substitution T A intron_variant COCA-CN 13 113883563 113883563 single base substitution T G downstream_gene_variant COCA-CN 13 113883563 113883563 single base substitution T G intron_variant COCA-CN 13 113886364 113886364 single base substitution C T downstream_gene_variant COCA-CN 13 113886364 113886364 single base substitution C T intron_variant COCA-CN 13 113886389 113886389 single base substitution T C downstream_gene_variant COCA-CN 13 113886389 113886389 single base substitution T C intron_variant COCA-CN 13 113891112 113891112 single base substitution C T intron_variant COCA-CN 13 113893632 113893632 single base substitution C T downstream_gene_variant COCA-CN 13 113893632 113893632 single base substitution C T intron_variant COCA-CN 13 113893632 113893632 single base substitution C T upstream_gene_variant COCA-CN 13 113899469 113899469 single base substitution G A exon_variant COCA-CN 13 113899469 113899469 single base substitution G A missense_variant C383Y 1148G>A COCA-CN 13 113899469 113899469 single base substitution G A missense_variant C483Y 1448G>A COCA-CN 13 113899469 113899469 single base substitution G A upstream_gene_variant COCA-CN 13 113899576 113899576 single base substitution C T intron_variant COCA-CN 13 113899576 113899576 single base substitution C T upstream_gene_variant COCA-CN 13 113907311 113907311 single base substitution A T intron_variant COCA-CN 13 113914525 113914525 single base substitution A C intron_variant EOPC-DE 13 113870035 113870035 single base substitution G A intron_variant ESAD-UK 13 113857839 113857839 single base substitution A G upstream_gene_variant ESAD-UK 13 113864595 113864595 single base substitution C T intron_variant ESAD-UK 13 113866418 113866418 single base substitution C T intron_variant ESAD-UK 13 113867024 113867024 single base substitution G A intron_variant ESAD-UK 13 113868718 113868718 single base substitution G T intron_variant ESAD-UK 13 113868788 113868788 single base substitution G T intron_variant ESAD-UK 13 113870122 113870122 single base substitution A G intron_variant ESAD-UK 13 113870938 113870938 single base substitution A G intron_variant ESAD-UK 13 113874633 113874633 single base substitution C A downstream_gene_variant ESAD-UK 13 113874633 113874633 single base substitution C A intron_variant ESAD-UK 13 113876980 113876980 single base substitution C T downstream_gene_variant ESAD-UK 13 113876980 113876980 single base substitution C T intron_variant ESAD-UK 13 113878606 113878606 single base substitution G T downstream_gene_variant ESAD-UK 13 113878606 113878606 single base substitution G T intron_variant ESAD-UK 13 113878918 113878918 single base substitution C T downstream_gene_variant ESAD-UK 13 113878918 113878918 single base substitution C T intron_variant ESAD-UK 13 113882086 113882086 single base substitution G A intron_variant ESAD-UK 13 113883134 113883134 insertion of <=200bp - A downstream_gene_variant ESAD-UK 13 113883134 113883134 insertion of <=200bp - A intron_variant ESAD-UK 13 113883511 113883511 deletion of <=200bp A - downstream_gene_variant ESAD-UK 13 113883511 113883511 deletion of <=200bp A - intron_variant ESAD-UK 13 113884591 113884591 single base substitution C T downstream_gene_variant ESAD-UK 13 113884591 113884591 single base substitution C T exon_variant ESAD-UK 13 113884591 113884591 single base substitution C T intron_variant ESAD-UK 13 113887318 113887318 single base substitution G A downstream_gene_variant ESAD-UK 13 113887318 113887318 single base substitution G A intron_variant ESAD-UK 13 113889714 113889714 single base substitution C T intron_variant ESAD-UK 13 113890188 113890188 single base substitution G C intron_variant ESAD-UK 13 113891112 113891112 single base substitution C T intron_variant ESAD-UK 13 113892786 113892786 single base substitution A G downstream_gene_variant ESAD-UK 13 113892786 113892786 single base substitution A G intron_variant ESAD-UK 13 113895567 113895567 single base substitution T C downstream_gene_variant ESAD-UK 13 113895567 113895567 single base substitution T C intron_variant ESAD-UK 13 113895567 113895567 single base substitution T C upstream_gene_variant ESAD-UK 13 113896585 113896585 single base substitution A C intron_variant ESAD-UK 13 113896585 113896585 single base substitution A C upstream_gene_variant ESAD-UK 13 113898383 113898383 single base substitution C G intron_variant ESAD-UK 13 113898383 113898383 single base substitution C G upstream_gene_variant ESAD-UK 13 113899016 113899016 single base substitution G A intron_variant ESAD-UK 13 113899016 113899016 single base substitution G A upstream_gene_variant ESAD-UK 13 113905197 113905197 single base substitution C T intron_variant ESAD-UK 13 113905938 113905938 single base substitution G A intron_variant ESAD-UK 13 113910260 113910260 single base substitution A G downstream_gene_variant ESAD-UK 13 113910260 113910260 single base substitution A G intron_variant ESAD-UK 13 113910459 113910459 single base substitution G A downstream_gene_variant ESAD-UK 13 113910459 113910459 single base substitution G A intron_variant ESAD-UK 13 113914914 113914914 single base substitution T C intron_variant ESAD-UK 13 113914914 113914914 single base substitution T C splice_region_variant ESAD-UK 13 113915597 113915597 deletion of <=200bp T - intron_variant ESAD-UK 13 113916993 113916994 deletion of <=200bp TT - intron_variant ESAD-UK 13 113920195 113920195 single base substitution G T downstream_gene_variant ESAD-UK 13 113921043 113921043 single base substitution G A downstream_gene_variant ESAD-UK 13 113921251 113921251 single base substitution A T downstream_gene_variant ESAD-UK 13 113923810 113923810 single base substitution G C downstream_gene_variant ESCA-CN 13 113900323 113900324 deletion of <=200bp CA - exon_variant ESCA-CN 13 113900323 113900324 deletion of <=200bp CA - frameshift_variant LT428 ESCA-CN 13 113900323 113900324 deletion of <=200bp CA - frameshift_variant LT528 ESCA-CN 13 113917833 113917833 single base substitution G C exon_variant ESCA-CN 13 113917833 113917833 single base substitution G C synonymous_variant L639L 1917G>C ESCA-CN 13 113917833 113917833 single base substitution G C synonymous_variant L739L 2217G>C KIRP-US 13 113915023 113915023 single base substitution C G intron_variant KIRP-US 13 113915023 113915023 single base substitution C G missense_variant H612D 1834C>G KIRP-US 13 113915023 113915023 single base substitution C G missense_variant H712D 2134C>G LAML-KR 13 113869713 113869713 single base substitution A G intron_variant LAML-KR 13 113889355 113889355 single base substitution A G downstream_gene_variant LAML-KR 13 113889355 113889355 single base substitution A G intron_variant LAML-KR 13 113909339 113909339 single base substitution A G downstream_gene_variant LAML-KR 13 113909339 113909339 single base substitution A G exon_variant LAML-KR 13 113909339 113909339 single base substitution A G missense_variant K544R 1631A>G LAML-KR 13 113909339 113909339 single base substitution A G missense_variant K644R 1931A>G LGG-US 13 113891149 113891149 single base substitution T C downstream_gene_variant LGG-US 13 113891149 113891149 single base substitution T C synonymous_variant I187I 561T>C LGG-US 13 113891149 113891149 single base substitution T C synonymous_variant I287I 861T>C LICA-FR 13 113864303 113864303 single base substitution C G 5_prime_UTR_variant LICA-FR 13 113864303 113864303 single base substitution C G exon_variant LICA-FR 13 113864303 113864303 single base substitution C G intron_variant LICA-FR 13 113864303 113864303 single base substitution C G synonymous_variant P55P 165C>G LICA-FR 13 113886483 113886483 single base substitution C T downstream_gene_variant LICA-FR 13 113886483 113886483 single base substitution C T intron_variant LICA-FR 13 113911733 113911733 single base substitution A G downstream_gene_variant LICA-FR 13 113911733 113911733 single base substitution A G intron_variant LICA-FR 13 113917496 113917496 single base substitution A G intron_variant LIHC-US 13 113898777 113898777 single base substitution G T exon_variant LIHC-US 13 113898777 113898777 single base substitution G T stop_gained E328* 982G>T LIHC-US 13 113898777 113898777 single base substitution G T stop_gained E428* 1282G>T LIHC-US 13 113898777 113898777 single base substitution G T upstream_gene_variant LINC-JP 13 113869506 113869525 deletion of <=200bp TATGGAGGTCTGTGTGGGAG - intron_variant LINC-JP 13 113869516 113869516 single base substitution T C intron_variant LINC-JP 13 113870096 113870096 single base substitution T C intron_variant LINC-JP 13 113870241 113870241 single base substitution G A intron_variant LINC-JP 13 113871278 113871278 single base substitution G T intron_variant LINC-JP 13 113886411 113886411 single base substitution T C downstream_gene_variant LINC-JP 13 113886411 113886411 single base substitution T C intron_variant LINC-JP 13 113887840 113887840 single base substitution A G downstream_gene_variant LINC-JP 13 113887840 113887840 single base substitution A G intron_variant LINC-JP 13 113898627 113898627 single base substitution G A exon_variant LINC-JP 13 113898627 113898627 single base substitution G A intron_variant LINC-JP 13 113898627 113898627 single base substitution G A upstream_gene_variant LINC-JP 13 113914400 113914400 single base substitution C A intron_variant LINC-JP 13 113919305 113919305 single base substitution A G 3_prime_UTR_variant LINC-JP 13 113919305 113919305 single base substitution A G downstream_gene_variant LINC-JP 13 113922107 113922107 single base substitution T G downstream_gene_variant LIRI-JP 13 113859701 113859701 single base substitution A G upstream_gene_variant LIRI-JP 13 113864846 113864846 single base substitution G A intron_variant LIRI-JP 13 113866439 113866439 single base substitution A G intron_variant LIRI-JP 13 113868076 113868076 single base substitution C T intron_variant LIRI-JP 13 113868844 113868844 single base substitution A G intron_variant LIRI-JP 13 113871486 113871486 single base substitution A G intron_variant LIRI-JP 13 113877560 113877560 single base substitution C G downstream_gene_variant LIRI-JP 13 113877560 113877560 single base substitution C G intron_variant LIRI-JP 13 113879085 113879085 single base substitution A G downstream_gene_variant LIRI-JP 13 113879085 113879085 single base substitution A G intron_variant LIRI-JP 13 113879093 113879093 single base substitution G T downstream_gene_variant LIRI-JP 13 113879093 113879093 single base substitution G T intron_variant LIRI-JP 13 113879295 113879295 single base substitution A G intron_variant LIRI-JP 13 113880279 113880279 single base substitution C T intron_variant LIRI-JP 13 113885438 113885438 single base substitution A G downstream_gene_variant LIRI-JP 13 113885438 113885438 single base substitution A G intron_variant LIRI-JP 13 113887954 113887954 single base substitution A G downstream_gene_variant LIRI-JP 13 113887954 113887954 single base substitution A G intron_variant LIRI-JP 13 113889018 113889018 single base substitution G T downstream_gene_variant LIRI-JP 13 113889018 113889018 single base substitution G T intron_variant LIRI-JP 13 113890683 113890683 single base substitution C T intron_variant LIRI-JP 13 113890908 113890908 single base substitution G A intron_variant LIRI-JP 13 113891900 113891900 single base substitution T C downstream_gene_variant LIRI-JP 13 113891900 113891900 single base substitution T C intron_variant LIRI-JP 13 113895369 113895369 single base substitution A G downstream_gene_variant LIRI-JP 13 113895369 113895369 single base substitution A G intron_variant LIRI-JP 13 113895369 113895369 single base substitution A G upstream_gene_variant LIRI-JP 13 113895620 113895620 single base substitution A G downstream_gene_variant LIRI-JP 13 113895620 113895620 single base substitution A G intron_variant LIRI-JP 13 113895620 113895620 single base substitution A G upstream_gene_variant LIRI-JP 13 113896410 113896410 single base substitution C T intron_variant LIRI-JP 13 113896410 113896410 single base substitution C T upstream_gene_variant LIRI-JP 13 113898226 113898226 single base substitution A G intron_variant LIRI-JP 13 113898226 113898226 single base substitution A G upstream_gene_variant LIRI-JP 13 113899303 113899303 deletion of <=200bp A - exon_variant LIRI-JP 13 113899303 113899303 deletion of <=200bp A - frameshift_variant A358 LIRI-JP 13 113899303 113899303 deletion of <=200bp A - frameshift_variant A458 LIRI-JP 13 113899303 113899303 deletion of <=200bp A - upstream_gene_variant LIRI-JP 13 113899369 113899369 single base substitution G A exon_variant LIRI-JP 13 113899369 113899369 single base substitution G A synonymous_variant K380K 1140G>A LIRI-JP 13 113899369 113899369 single base substitution G A synonymous_variant K480K 1440G>A LIRI-JP 13 113899369 113899369 single base substitution G A upstream_gene_variant LIRI-JP 13 113900529 113900529 single base substitution T C intron_variant LIRI-JP 13 113901513 113901513 single base substitution G C intron_variant LIRI-JP 13 113905372 113905372 single base substitution C T intron_variant LIRI-JP 13 113905532 113905532 single base substitution C T intron_variant LIRI-JP 13 113906294 113906294 single base substitution G A intron_variant LIRI-JP 13 113910005 113910005 single base substitution T C downstream_gene_variant LIRI-JP 13 113910005 113910005 single base substitution T C intron_variant LIRI-JP 13 113912725 113912725 single base substitution C T downstream_gene_variant LIRI-JP 13 113912725 113912725 single base substitution C T intron_variant LIRI-JP 13 113914450 113914450 single base substitution G A intron_variant LIRI-JP 13 113914859 113914859 single base substitution A G intron_variant LIRI-JP 13 113915389 113915389 single base substitution A G intron_variant LIRI-JP 13 113915920 113915920 single base substitution T G intron_variant LIRI-JP 13 113919403 113919403 single base substitution A G downstream_gene_variant LIRI-JP 13 113919781 113919781 single base substitution A T downstream_gene_variant LIRI-JP 13 113920893 113920893 single base substitution G A downstream_gene_variant LIRI-JP 13 113921647 113921647 single base substitution G A downstream_gene_variant LIRI-JP 13 113922799 113922799 single base substitution G A downstream_gene_variant LIRI-JP 13 113923150 113923150 single base substitution A G downstream_gene_variant LUSC-KR 13 113857726 113857726 single base substitution C T upstream_gene_variant LUSC-KR 13 113857966 113857966 single base substitution C A upstream_gene_variant LUSC-KR 13 113859999 113859999 single base substitution C A upstream_gene_variant LUSC-KR 13 113860000 113860000 single base substitution C A upstream_gene_variant LUSC-KR 13 113860402 113860402 single base substitution G C upstream_gene_variant LUSC-KR 13 113869732 113869732 single base substitution A G intron_variant LUSC-KR 13 113870366 113870366 single base substitution C T intron_variant LUSC-KR 13 113872323 113872323 single base substitution G A intron_variant LUSC-KR 13 113872441 113872441 single base substitution A T intron_variant LUSC-KR 13 113873899 113873899 single base substitution G T exon_variant LUSC-KR 13 113873899 113873899 single base substitution G T intron_variant LUSC-KR 13 113876785 113876785 single base substitution G T downstream_gene_variant LUSC-KR 13 113876785 113876785 single base substitution G T intron_variant LUSC-KR 13 113878900 113878900 single base substitution A T downstream_gene_variant LUSC-KR 13 113878900 113878900 single base substitution A T intron_variant LUSC-KR 13 113884712 113884712 single base substitution C G downstream_gene_variant LUSC-KR 13 113884712 113884712 single base substitution C G intron_variant LUSC-KR 13 113886433 113886433 single base substitution A G downstream_gene_variant LUSC-KR 13 113886433 113886433 single base substitution A G intron_variant LUSC-KR 13 113888425 113888425 single base substitution T C downstream_gene_variant LUSC-KR 13 113888425 113888425 single base substitution T C intron_variant LUSC-KR 13 113889212 113889212 single base substitution A G downstream_gene_variant LUSC-KR 13 113889212 113889212 single base substitution A G intron_variant LUSC-KR 13 113889226 113889226 single base substitution T C downstream_gene_variant LUSC-KR 13 113889226 113889226 single base substitution T C intron_variant LUSC-KR 13 113889262 113889262 single base substitution G C downstream_gene_variant LUSC-KR 13 113889262 113889262 single base substitution G C intron_variant LUSC-KR 13 113889355 113889355 single base substitution A G downstream_gene_variant LUSC-KR 13 113889355 113889355 single base substitution A G intron_variant LUSC-KR 13 113889499 113889499 single base substitution A G downstream_gene_variant LUSC-KR 13 113889499 113889499 single base substitution A G intron_variant LUSC-KR 13 113891359 113891359 single base substitution A G downstream_gene_variant LUSC-KR 13 113891359 113891359 single base substitution A G intron_variant LUSC-KR 13 113893625 113893625 single base substitution G A downstream_gene_variant LUSC-KR 13 113893625 113893625 single base substitution G A intron_variant LUSC-KR 13 113893625 113893625 single base substitution G A upstream_gene_variant LUSC-KR 13 113893729 113893729 single base substitution G A downstream_gene_variant LUSC-KR 13 113893729 113893729 single base substitution G A intron_variant LUSC-KR 13 113893729 113893729 single base substitution G A upstream_gene_variant LUSC-KR 13 113897320 113897320 single base substitution C T synonymous_variant D258D 774C>T LUSC-KR 13 113897320 113897320 single base substitution C T synonymous_variant D358D 1074C>T LUSC-KR 13 113897320 113897320 single base substitution C T upstream_gene_variant LUSC-KR 13 113900994 113900994 single base substitution G T intron_variant LUSC-KR 13 113902032 113902032 single base substitution C T intron_variant LUSC-KR 13 113907391 113907391 single base substitution A G splice_region_variant LUSC-KR 13 113907747 113907747 single base substitution G A intron_variant LUSC-KR 13 113909339 113909339 single base substitution A G downstream_gene_variant LUSC-KR 13 113909339 113909339 single base substitution A G exon_variant LUSC-KR 13 113909339 113909339 single base substitution A G missense_variant K544R 1631A>G LUSC-KR 13 113909339 113909339 single base substitution A G missense_variant K644R 1931A>G LUSC-KR 13 113917213 113917213 single base substitution A G intron_variant LUSC-KR 13 113919198 113919198 single base substitution C G 3_prime_UTR_variant LUSC-KR 13 113919198 113919198 single base substitution C G downstream_gene_variant MALY-DE 13 113858746 113858746 single base substitution C T upstream_gene_variant MALY-DE 13 113865613 113865613 single base substitution T C intron_variant MALY-DE 13 113886379 113886379 insertion of <=200bp - CTG downstream_gene_variant MALY-DE 13 113886379 113886379 insertion of <=200bp - CTG intron_variant MALY-DE 13 113890521 113890521 single base substitution A C intron_variant MALY-DE 13 113892763 113892763 single base substitution A T downstream_gene_variant MALY-DE 13 113892763 113892763 single base substitution A T intron_variant MALY-DE 13 113903888 113903888 single base substitution A G intron_variant MALY-DE 13 113905666 113905666 single base substitution G A intron_variant MALY-DE 13 113905720 113905720 single base substitution T A intron_variant MALY-DE 13 113906161 113906161 insertion of <=200bp - GAC intron_variant MALY-DE 13 113907889 113907889 single base substitution A C intron_variant MALY-DE 13 113908331 113908331 single base substitution A G intron_variant MALY-DE 13 113918970 113918970 single base substitution T A 3_prime_UTR_variant MALY-DE 13 113918970 113918970 single base substitution T A downstream_gene_variant MALY-DE 13 113921961 113921961 single base substitution G A downstream_gene_variant MELA-AU 13 113857954 113857955 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 13 113858128 113858128 single base substitution C T upstream_gene_variant MELA-AU 13 113858304 113858304 single base substitution A G upstream_gene_variant MELA-AU 13 113859418 113859418 single base substitution G A upstream_gene_variant MELA-AU 13 113859567 113859567 single base substitution T C upstream_gene_variant MELA-AU 13 113859817 113859817 single base substitution C T upstream_gene_variant MELA-AU 13 113859929 113859929 single base substitution G C upstream_gene_variant MELA-AU 13 113861400 113861400 single base substitution G A upstream_gene_variant MELA-AU 13 113861622 113861622 single base substitution G A upstream_gene_variant MELA-AU 13 113864464 113864464 single base substitution G A intron_variant MELA-AU 13 113865895 113865895 single base substitution C T intron_variant MELA-AU 13 113866158 113866158 single base substitution C T intron_variant MELA-AU 13 113866403 113866403 single base substitution C T intron_variant MELA-AU 13 113866876 113866876 single base substitution C T intron_variant MELA-AU 13 113866965 113866965 single base substitution G A intron_variant MELA-AU 13 113867167 113867167 single base substitution C T intron_variant MELA-AU 13 113867168 113867168 single base substitution C T intron_variant MELA-AU 13 113868138 113868138 single base substitution C T intron_variant MELA-AU 13 113868154 113868154 single base substitution G A intron_variant MELA-AU 13 113868719 113868719 single base substitution A G intron_variant MELA-AU 13 113871123 113871123 single base substitution G A intron_variant MELA-AU 13 113872039 113872039 single base substitution T A intron_variant MELA-AU 13 113872476 113872476 single base substitution C T intron_variant MELA-AU 13 113874107 113874107 single base substitution C T exon_variant MELA-AU 13 113874107 113874107 single base substitution C T intron_variant MELA-AU 13 113874142 113874142 single base substitution T G downstream_gene_variant MELA-AU 13 113874142 113874142 single base substitution T G intron_variant MELA-AU 13 113875054 113875054 single base substitution T G downstream_gene_variant MELA-AU 13 113875054 113875054 single base substitution T G intron_variant MELA-AU 13 113875109 113875109 single base substitution C G downstream_gene_variant MELA-AU 13 113875109 113875109 single base substitution C G intron_variant MELA-AU 13 113876251 113876251 single base substitution C T downstream_gene_variant MELA-AU 13 113876251 113876251 single base substitution C T intron_variant MELA-AU 13 113876302 113876302 single base substitution C T downstream_gene_variant MELA-AU 13 113876302 113876302 single base substitution C T intron_variant MELA-AU 13 113876454 113876454 single base substitution C T downstream_gene_variant MELA-AU 13 113876454 113876454 single base substitution C T intron_variant MELA-AU 13 113876944 113876944 single base substitution G A downstream_gene_variant MELA-AU 13 113876944 113876944 single base substitution G A intron_variant MELA-AU 13 113878199 113878199 single base substitution C T downstream_gene_variant MELA-AU 13 113878199 113878199 single base substitution C T intron_variant MELA-AU 13 113879082 113879082 single base substitution C T downstream_gene_variant MELA-AU 13 113879082 113879082 single base substitution C T intron_variant MELA-AU 13 113879473 113879473 single base substitution C T intron_variant MELA-AU 13 113880486 113880486 single base substitution C T intron_variant MELA-AU 13 113880557 113880557 single base substitution A G intron_variant MELA-AU 13 113880962 113880962 single base substitution C T intron_variant MELA-AU 13 113882148 113882148 single base substitution G A intron_variant MELA-AU 13 113882190 113882190 single base substitution C T intron_variant MELA-AU 13 113882274 113882274 single base substitution C T intron_variant MELA-AU 13 113882521 113882521 single base substitution T C downstream_gene_variant MELA-AU 13 113882521 113882521 single base substitution T C intron_variant MELA-AU 13 113882586 113882586 single base substitution C A downstream_gene_variant MELA-AU 13 113882586 113882586 single base substitution C A intron_variant MELA-AU 13 113882601 113882601 single base substitution C T downstream_gene_variant MELA-AU 13 113882601 113882601 single base substitution C T intron_variant MELA-AU 13 113882669 113882669 single base substitution C T downstream_gene_variant MELA-AU 13 113882669 113882669 single base substitution C T intron_variant MELA-AU 13 113882674 113882674 single base substitution C T downstream_gene_variant MELA-AU 13 113882674 113882674 single base substitution C T intron_variant MELA-AU 13 113882803 113882803 single base substitution C T downstream_gene_variant MELA-AU 13 113882803 113882803 single base substitution C T intron_variant MELA-AU 13 113882820 113882820 single base substitution C T downstream_gene_variant MELA-AU 13 113882820 113882820 single base substitution C T intron_variant MELA-AU 13 113883402 113883402 single base substitution C T downstream_gene_variant MELA-AU 13 113883402 113883402 single base substitution C T intron_variant MELA-AU 13 113883534 113883534 single base substitution T C downstream_gene_variant MELA-AU 13 113883534 113883534 single base substitution T C intron_variant MELA-AU 13 113883885 113883885 single base substitution C T downstream_gene_variant MELA-AU 13 113883885 113883885 single base substitution C T intron_variant MELA-AU 13 113884049 113884049 single base substitution C T downstream_gene_variant MELA-AU 13 113884049 113884049 single base substitution C T exon_variant MELA-AU 13 113884049 113884049 single base substitution C T intron_variant MELA-AU 13 113884090 113884090 single base substitution G A downstream_gene_variant MELA-AU 13 113884090 113884090 single base substitution G A exon_variant MELA-AU 13 113884090 113884090 single base substitution G A intron_variant MELA-AU 13 113884310 113884310 single base substitution C T downstream_gene_variant MELA-AU 13 113884310 113884310 single base substitution C T exon_variant MELA-AU 13 113884310 113884310 single base substitution C T intron_variant MELA-AU 13 113884425 113884425 single base substitution G A downstream_gene_variant MELA-AU 13 113884425 113884425 single base substitution G A exon_variant MELA-AU 13 113884425 113884425 single base substitution G A intron_variant MELA-AU 13 113884789 113884790 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 13 113884789 113884790 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 113884863 113884863 single base substitution C T downstream_gene_variant MELA-AU 13 113884863 113884863 single base substitution C T intron_variant MELA-AU 13 113885094 113885094 single base substitution T G downstream_gene_variant MELA-AU 13 113885094 113885094 single base substitution T G intron_variant MELA-AU 13 113885662 113885662 single base substitution A G downstream_gene_variant MELA-AU 13 113885662 113885662 single base substitution A G intron_variant MELA-AU 13 113886059 113886059 single base substitution C T downstream_gene_variant MELA-AU 13 113886059 113886059 single base substitution C T intron_variant MELA-AU 13 113886703 113886703 single base substitution T C downstream_gene_variant MELA-AU 13 113886703 113886703 single base substitution T C intron_variant MELA-AU 13 113888199 113888199 single base substitution C A downstream_gene_variant MELA-AU 13 113888199 113888199 single base substitution C A intron_variant MELA-AU 13 113888322 113888322 single base substitution G A downstream_gene_variant MELA-AU 13 113888322 113888322 single base substitution G A intron_variant MELA-AU 13 113888368 113888368 single base substitution C T downstream_gene_variant MELA-AU 13 113888368 113888368 single base substitution C T intron_variant MELA-AU 13 113888661 113888661 single base substitution C T downstream_gene_variant MELA-AU 13 113888661 113888661 single base substitution C T intron_variant MELA-AU 13 113888733 113888733 single base substitution C T downstream_gene_variant MELA-AU 13 113888733 113888733 single base substitution C T intron_variant MELA-AU 13 113889049 113889049 single base substitution C T downstream_gene_variant MELA-AU 13 113889049 113889049 single base substitution C T intron_variant MELA-AU 13 113889089 113889089 single base substitution G A downstream_gene_variant MELA-AU 13 113889089 113889089 single base substitution G A intron_variant MELA-AU 13 113889791 113889791 single base substitution C T intron_variant MELA-AU 13 113890253 113890253 single base substitution C T intron_variant MELA-AU 13 113890836 113890836 single base substitution G A intron_variant MELA-AU 13 113891332 113891332 single base substitution C T downstream_gene_variant MELA-AU 13 113891332 113891332 single base substitution C T intron_variant MELA-AU 13 113894922 113894924 deletion of <=200bp AAG - downstream_gene_variant MELA-AU 13 113894922 113894924 deletion of <=200bp AAG - intron_variant MELA-AU 13 113894922 113894924 deletion of <=200bp AAG - upstream_gene_variant MELA-AU 13 113895942 113895942 single base substitution C T downstream_gene_variant MELA-AU 13 113895942 113895942 single base substitution C T intron_variant MELA-AU 13 113895942 113895942 single base substitution C T upstream_gene_variant MELA-AU 13 113896162 113896162 single base substitution C G intron_variant MELA-AU 13 113896162 113896162 single base substitution C G upstream_gene_variant MELA-AU 13 113896410 113896410 single base substitution C T intron_variant MELA-AU 13 113896410 113896410 single base substitution C T upstream_gene_variant MELA-AU 13 113896924 113896924 single base substitution C T intron_variant MELA-AU 13 113896924 113896924 single base substitution C T upstream_gene_variant MELA-AU 13 113897688 113897688 single base substitution A G intron_variant MELA-AU 13 113897688 113897688 single base substitution A G upstream_gene_variant MELA-AU 13 113897930 113897930 single base substitution G A intron_variant MELA-AU 13 113897930 113897930 single base substitution G A upstream_gene_variant MELA-AU 13 113898288 113898288 single base substitution C T intron_variant MELA-AU 13 113898288 113898288 single base substitution C T upstream_gene_variant MELA-AU 13 113898809 113898809 single base substitution C T exon_variant MELA-AU 13 113898809 113898809 single base substitution C T synonymous_variant I338I 1014C>T MELA-AU 13 113898809 113898809 single base substitution C T synonymous_variant I438I 1314C>T MELA-AU 13 113898809 113898809 single base substitution C T upstream_gene_variant MELA-AU 13 113899010 113899010 single base substitution C T intron_variant MELA-AU 13 113899010 113899010 single base substitution C T upstream_gene_variant MELA-AU 13 113899277 113899277 single base substitution G A exon_variant MELA-AU 13 113899277 113899277 single base substitution G A missense_variant E350K 1048G>A MELA-AU 13 113899277 113899277 single base substitution G A missense_variant E450K 1348G>A MELA-AU 13 113899277 113899277 single base substitution G A upstream_gene_variant MELA-AU 13 113899312 113899312 single base substitution C T exon_variant MELA-AU 13 113899312 113899312 single base substitution C T synonymous_variant L361L 1083C>T MELA-AU 13 113899312 113899312 single base substitution C T synonymous_variant L461L 1383C>T MELA-AU 13 113899312 113899312 single base substitution C T upstream_gene_variant MELA-AU 13 113899523 113899523 single base substitution C T exon_variant MELA-AU 13 113899523 113899523 single base substitution C T missense_variant S401L 1202C>T MELA-AU 13 113899523 113899523 single base substitution C T missense_variant S501L 1502C>T MELA-AU 13 113899523 113899523 single base substitution C T upstream_gene_variant MELA-AU 13 113899594 113899594 single base substitution C T intron_variant MELA-AU 13 113899594 113899594 single base substitution C T upstream_gene_variant MELA-AU 13 113900858 113900858 single base substitution C A intron_variant MELA-AU 13 113900981 113900982 deletion of <=200bp AC - intron_variant MELA-AU 13 113901253 113901254 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 113901841 113901841 single base substitution C T intron_variant MELA-AU 13 113902503 113902503 single base substitution C T intron_variant MELA-AU 13 113902806 113902806 single base substitution T A intron_variant MELA-AU 13 113903418 113903418 single base substitution C T intron_variant MELA-AU 13 113903517 113903517 single base substitution C T intron_variant MELA-AU 13 113903589 113903589 single base substitution C T intron_variant MELA-AU 13 113904088 113904088 single base substitution C T intron_variant MELA-AU 13 113904369 113904369 single base substitution C T intron_variant MELA-AU 13 113905442 113905442 single base substitution C T intron_variant MELA-AU 13 113905891 113905891 single base substitution T C intron_variant MELA-AU 13 113906015 113906015 single base substitution C T intron_variant MELA-AU 13 113906107 113906107 single base substitution C T intron_variant MELA-AU 13 113906267 113906267 single base substitution C T intron_variant MELA-AU 13 113906526 113906526 single base substitution C T intron_variant MELA-AU 13 113906682 113906682 single base substitution C T intron_variant MELA-AU 13 113908493 113908493 single base substitution C T intron_variant MELA-AU 13 113908633 113908633 single base substitution C T intron_variant MELA-AU 13 113909858 113909858 single base substitution C T downstream_gene_variant MELA-AU 13 113909858 113909858 single base substitution C T intron_variant MELA-AU 13 113909868 113909868 single base substitution C T downstream_gene_variant MELA-AU 13 113909868 113909868 single base substitution C T intron_variant MELA-AU 13 113910055 113910055 single base substitution C T downstream_gene_variant MELA-AU 13 113910055 113910055 single base substitution C T intron_variant MELA-AU 13 113910362 113910362 single base substitution C T downstream_gene_variant MELA-AU 13 113910362 113910362 single base substitution C T intron_variant MELA-AU 13 113910417 113910417 single base substitution C T downstream_gene_variant MELA-AU 13 113910417 113910417 single base substitution C T intron_variant MELA-AU 13 113910424 113910424 single base substitution C T downstream_gene_variant MELA-AU 13 113910424 113910424 single base substitution C T intron_variant MELA-AU 13 113910487 113910487 single base substitution C T downstream_gene_variant MELA-AU 13 113910487 113910487 single base substitution C T intron_variant MELA-AU 13 113910654 113910654 single base substitution C T downstream_gene_variant MELA-AU 13 113910654 113910654 single base substitution C T intron_variant MELA-AU 13 113911281 113911281 single base substitution C T downstream_gene_variant MELA-AU 13 113911281 113911281 single base substitution C T intron_variant MELA-AU 13 113911625 113911625 single base substitution C T downstream_gene_variant MELA-AU 13 113911625 113911625 single base substitution C T intron_variant MELA-AU 13 113911810 113911810 single base substitution T C downstream_gene_variant MELA-AU 13 113911810 113911810 single base substitution T C intron_variant MELA-AU 13 113911963 113911963 single base substitution C G downstream_gene_variant MELA-AU 13 113911963 113911963 single base substitution C G intron_variant MELA-AU 13 113912945 113912945 single base substitution A T downstream_gene_variant MELA-AU 13 113912945 113912945 single base substitution A T intron_variant MELA-AU 13 113913053 113913053 single base substitution G C downstream_gene_variant MELA-AU 13 113913053 113913053 single base substitution G C intron_variant MELA-AU 13 113913459 113913459 single base substitution C T downstream_gene_variant MELA-AU 13 113913459 113913459 single base substitution C T intron_variant MELA-AU 13 113914315 113914315 single base substitution C T intron_variant MELA-AU 13 113914472 113914472 single base substitution C T intron_variant MELA-AU 13 113914786 113914786 single base substitution C T intron_variant MELA-AU 13 113914932 113914932 single base substitution G T intron_variant MELA-AU 13 113914932 113914932 single base substitution G T missense_variant Q581H 1743G>T MELA-AU 13 113914932 113914932 single base substitution G T missense_variant Q681H 2043G>T MELA-AU 13 113915310 113915310 single base substitution C T intron_variant MELA-AU 13 113915839 113915839 single base substitution G A intron_variant MELA-AU 13 113916327 113916327 single base substitution C T intron_variant MELA-AU 13 113916380 113916380 single base substitution C T intron_variant MELA-AU 13 113918459 113918459 single base substitution A T 3_prime_UTR_variant MELA-AU 13 113918459 113918459 single base substitution A T downstream_gene_variant MELA-AU 13 113918488 113918488 single base substitution C T 3_prime_UTR_variant MELA-AU 13 113918488 113918488 single base substitution C T downstream_gene_variant MELA-AU 13 113918498 113918498 single base substitution G A 3_prime_UTR_variant MELA-AU 13 113918498 113918498 single base substitution G A downstream_gene_variant MELA-AU 13 113918617 113918617 single base substitution C T 3_prime_UTR_variant MELA-AU 13 113918617 113918617 single base substitution C T downstream_gene_variant MELA-AU 13 113919507 113919507 single base substitution A G downstream_gene_variant MELA-AU 13 113921714 113921714 single base substitution G T downstream_gene_variant MELA-AU 13 113921734 113921734 single base substitution C T downstream_gene_variant MELA-AU 13 113923284 113923284 single base substitution C T downstream_gene_variant MELA-AU 13 113923572 113923572 single base substitution C T downstream_gene_variant MELA-AU 13 113924184 113924184 single base substitution C T downstream_gene_variant MELA-AU 13 113924301 113924301 single base substitution C T downstream_gene_variant ORCA-IN 13 113870476 113870476 single base substitution G A intron_variant ORCA-IN 13 113891112 113891112 single base substitution C T intron_variant OV-AU 13 113863736 113863736 single base substitution T C intron_variant OV-AU 13 113863736 113863736 single base substitution T C upstream_gene_variant OV-AU 13 113878988 113878988 single base substitution G C downstream_gene_variant OV-AU 13 113878988 113878988 single base substitution G C intron_variant OV-AU 13 113881761 113881761 single base substitution A C intron_variant OV-AU 13 113885379 113885379 single base substitution G A downstream_gene_variant OV-AU 13 113885379 113885379 single base substitution G A intron_variant OV-AU 13 113892728 113892728 single base substitution C A downstream_gene_variant OV-AU 13 113892728 113892728 single base substitution C A intron_variant OV-AU 13 113894592 113894592 single base substitution T G downstream_gene_variant OV-AU 13 113894592 113894592 single base substitution T G intron_variant OV-AU 13 113894592 113894592 single base substitution T G upstream_gene_variant OV-AU 13 113900581 113900581 single base substitution G C intron_variant OV-AU 13 113909271 113909271 single base substitution T C downstream_gene_variant OV-AU 13 113909271 113909271 single base substitution T C exon_variant OV-AU 13 113909271 113909271 single base substitution T C synonymous_variant D521D 1563T>C OV-AU 13 113909271 113909271 single base substitution T C synonymous_variant D621D 1863T>C OV-AU 13 113914052 113914052 single base substitution C G downstream_gene_variant OV-AU 13 113914052 113914052 single base substitution C G intron_variant PACA-AU 13 113860269 113860269 single base substitution A G upstream_gene_variant PACA-AU 13 113870366 113870366 single base substitution C T intron_variant PACA-AU 13 113874357 113874357 single base substitution T A downstream_gene_variant PACA-AU 13 113874357 113874357 single base substitution T A intron_variant PACA-AU 13 113877614 113877614 single base substitution G C downstream_gene_variant PACA-AU 13 113877614 113877614 single base substitution G C intron_variant PACA-AU 13 113878095 113878095 single base substitution A G downstream_gene_variant PACA-AU 13 113878095 113878095 single base substitution A G intron_variant PACA-AU 13 113886240 113886240 single base substitution C T downstream_gene_variant PACA-AU 13 113886240 113886240 single base substitution C T intron_variant PACA-AU 13 113895883 113895883 single base substitution T C downstream_gene_variant PACA-AU 13 113895883 113895883 single base substitution T C intron_variant PACA-AU 13 113895883 113895883 single base substitution T C upstream_gene_variant PACA-AU 13 113895898 113895898 single base substitution A G downstream_gene_variant PACA-AU 13 113895898 113895898 single base substitution A G intron_variant PACA-AU 13 113895898 113895898 single base substitution A G upstream_gene_variant PACA-AU 13 113895936 113895936 single base substitution C A downstream_gene_variant PACA-AU 13 113895936 113895936 single base substitution C A intron_variant PACA-AU 13 113895936 113895936 single base substitution C A upstream_gene_variant PACA-AU 13 113896901 113896901 single base substitution C T intron_variant PACA-AU 13 113896901 113896901 single base substitution C T upstream_gene_variant PACA-AU 13 113899851 113899851 single base substitution G A intron_variant PACA-AU 13 113899851 113899851 single base substitution G A upstream_gene_variant PACA-AU 13 113901318 113901318 single base substitution G A intron_variant PACA-AU 13 113904766 113904766 single base substitution G A intron_variant PACA-AU 13 113905278 113905278 single base substitution C T intron_variant PACA-AU 13 113907082 113907082 single base substitution C T intron_variant PACA-AU 13 113916432 113916432 single base substitution G A intron_variant PACA-AU 13 113918238 113918238 single base substitution G A 3_prime_UTR_variant PACA-AU 13 113918238 113918238 single base substitution G A downstream_gene_variant PACA-AU 13 113921675 113921675 single base substitution C T downstream_gene_variant PACA-AU 13 113922776 113922776 single base substitution G A downstream_gene_variant PACA-CA 13 113857697 113857697 single base substitution C A upstream_gene_variant PACA-CA 13 113864413 113864413 single base substitution G T intron_variant PACA-CA 13 113864678 113864678 single base substitution A G intron_variant PACA-CA 13 113869407 113869407 single base substitution C T intron_variant PACA-CA 13 113870122 113870122 single base substitution A G intron_variant PACA-CA 13 113871539 113871539 single base substitution T C intron_variant PACA-CA 13 113874489 113874489 single base substitution G T downstream_gene_variant PACA-CA 13 113874489 113874489 single base substitution G T intron_variant PACA-CA 13 113880654 113880654 single base substitution C T intron_variant PACA-CA 13 113886447 113886447 single base substitution T C downstream_gene_variant PACA-CA 13 113886447 113886447 single base substitution T C intron_variant PACA-CA 13 113889218 113889218 single base substitution G A downstream_gene_variant PACA-CA 13 113889218 113889218 single base substitution G A intron_variant PACA-CA 13 113889326 113889326 single base substitution A G downstream_gene_variant PACA-CA 13 113889326 113889326 single base substitution A G intron_variant PACA-CA 13 113889662 113889662 single base substitution G T intron_variant PACA-CA 13 113892591 113892591 insertion of <=200bp - A downstream_gene_variant PACA-CA 13 113892591 113892591 insertion of <=200bp - A intron_variant PACA-CA 13 113893111 113893111 single base substitution T C downstream_gene_variant PACA-CA 13 113893111 113893111 single base substitution T C intron_variant PACA-CA 13 113906175 113906175 single base substitution G A intron_variant PACA-CA 13 113907561 113907565 deletion of <=200bp ATTTT - intron_variant PACA-CA 13 113907570 113907589 deletion of <=200bp TTGTTACTGGACTTTAGTAG - intron_variant PACA-CA 13 113907594 113907608 deletion of <=200bp AAAGGAGTGTTTCAC - intron_variant PACA-CA 13 113909233 113909233 single base substitution C T downstream_gene_variant PACA-CA 13 113909233 113909233 single base substitution C T intron_variant PACA-CA 13 113910899 113910899 single base substitution T C downstream_gene_variant PACA-CA 13 113910899 113910899 single base substitution T C intron_variant PACA-CA 13 113911428 113911428 single base substitution G A downstream_gene_variant PACA-CA 13 113911428 113911428 single base substitution G A intron_variant PACA-CA 13 113915141 113915141 single base substitution C T intron_variant PACA-CA 13 113922659 113922659 single base substitution G C downstream_gene_variant PACA-CA 13 113922950 113922950 single base substitution C T downstream_gene_variant PACA-CA 13 113923668 113923668 single base substitution T A downstream_gene_variant PAEN-AU 13 113862743 113862743 single base substitution C G 5_prime_UTR_variant PAEN-AU 13 113862743 113862743 single base substitution C G upstream_gene_variant PAEN-AU 13 113872483 113872483 single base substitution T G intron_variant PAEN-IT 13 113878609 113878609 single base substitution G A downstream_gene_variant PAEN-IT 13 113878609 113878609 single base substitution G A intron_variant PAEN-IT 13 113900542 113900542 single base substitution C T intron_variant PBCA-DE 13 113881165 113881165 single base substitution C T intron_variant PBCA-DE 13 113886335 113886335 insertion of <=200bp - CCTGT downstream_gene_variant PBCA-DE 13 113886335 113886335 insertion of <=200bp - CCTGT intron_variant PBCA-DE 13 113886701 113886702 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 13 113886701 113886702 deletion of <=200bp TA - intron_variant PBCA-DE 13 113896107 113896107 single base substitution G A downstream_gene_variant PBCA-DE 13 113896107 113896107 single base substitution G A intron_variant PBCA-DE 13 113896107 113896107 single base substitution G A upstream_gene_variant PBCA-DE 13 113897490 113897490 insertion of <=200bp - T intron_variant PBCA-DE 13 113897490 113897490 insertion of <=200bp - T upstream_gene_variant PBCA-DE 13 113903286 113903286 single base substitution G A intron_variant PBCA-DE 13 113911742 113911742 single base substitution C T downstream_gene_variant PBCA-DE 13 113911742 113911742 single base substitution C T intron_variant PBCA-DE 13 113916941 113916941 single base substitution C T intron_variant PBCA-DE 13 113921175 113921175 insertion of <=200bp - T downstream_gene_variant PRAD-CA 13 113866376 113866376 single base substitution A T intron_variant PRAD-CA 13 113876249 113876249 single base substitution G T downstream_gene_variant PRAD-CA 13 113876249 113876249 single base substitution G T intron_variant PRAD-CA 13 113898269 113898269 single base substitution G A intron_variant PRAD-CA 13 113898269 113898269 single base substitution G A upstream_gene_variant PRAD-UK 13 113861903 113861903 deletion of <=200bp T - upstream_gene_variant PRAD-UK 13 113862574 113862574 single base substitution C G 5_prime_UTR_variant PRAD-UK 13 113862574 113862574 single base substitution C G upstream_gene_variant PRAD-UK 13 113863968 113863968 single base substitution C T exon_variant PRAD-UK 13 113863968 113863968 single base substitution C T intron_variant PRAD-UK 13 113863968 113863968 single base substitution C T synonymous_variant G9G 27C>T PRAD-UK 13 113863968 113863968 single base substitution C T upstream_gene_variant PRAD-UK 13 113868507 113868507 insertion of <=200bp - A intron_variant PRAD-UK 13 113904497 113904497 single base substitution G A intron_variant RECA-EU 13 113864676 113864676 single base substitution T C intron_variant RECA-EU 13 113868005 113868005 single base substitution A T intron_variant RECA-EU 13 113869012 113869012 single base substitution G A intron_variant RECA-EU 13 113874245 113874245 single base substitution C A downstream_gene_variant RECA-EU 13 113874245 113874245 single base substitution C A intron_variant RECA-EU 13 113879626 113879626 single base substitution G A intron_variant RECA-EU 13 113879628 113879628 single base substitution A C intron_variant RECA-EU 13 113885995 113885995 single base substitution T C downstream_gene_variant RECA-EU 13 113885995 113885995 single base substitution T C intron_variant RECA-EU 13 113906818 113906818 single base substitution C A intron_variant RECA-EU 13 113921291 113921291 single base substitution C A downstream_gene_variant RECA-EU 13 113921352 113921352 single base substitution A G downstream_gene_variant SKCA-BR 13 113860817 113860817 single base substitution G A upstream_gene_variant SKCA-BR 13 113862815 113862815 insertion of <=200bp - CG 5_prime_UTR_variant SKCA-BR 13 113862815 113862815 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 13 113862838 113862838 single base substitution T G 5_prime_UTR_variant SKCA-BR 13 113862838 113862838 single base substitution T G upstream_gene_variant SKCA-BR 13 113866072 113866072 single base substitution C T intron_variant SKCA-BR 13 113867257 113867257 single base substitution T C intron_variant SKCA-BR 13 113867259 113867259 single base substitution C T intron_variant SKCA-BR 13 113867689 113867689 single base substitution C T intron_variant SKCA-BR 13 113869603 113869603 single base substitution A G intron_variant SKCA-BR 13 113870151 113870151 single base substitution G A intron_variant SKCA-BR 13 113870312 113870312 single base substitution C T intron_variant SKCA-BR 13 113870313 113870313 single base substitution C T intron_variant SKCA-BR 13 113873348 113873348 single base substitution C T exon_variant SKCA-BR 13 113873348 113873348 single base substitution C T synonymous_variant I118I 354C>T SKCA-BR 13 113873348 113873348 single base substitution C T synonymous_variant I18I 54C>T SKCA-BR 13 113875183 113875183 single base substitution A G downstream_gene_variant SKCA-BR 13 113875183 113875183 single base substitution A G intron_variant SKCA-BR 13 113877900 113877900 single base substitution G A downstream_gene_variant SKCA-BR 13 113877900 113877900 single base substitution G A intron_variant SKCA-BR 13 113884270 113884270 single base substitution G T downstream_gene_variant SKCA-BR 13 113884270 113884270 single base substitution G T exon_variant SKCA-BR 13 113884270 113884270 single base substitution G T intron_variant SKCA-BR 13 113885532 113885532 single base substitution C T downstream_gene_variant SKCA-BR 13 113885532 113885532 single base substitution C T intron_variant SKCA-BR 13 113886353 113886353 single base substitution C T downstream_gene_variant SKCA-BR 13 113886353 113886353 single base substitution C T intron_variant SKCA-BR 13 113886378 113886378 insertion of <=200bp - ACTG downstream_gene_variant SKCA-BR 13 113886378 113886378 insertion of <=200bp - ACTG intron_variant SKCA-BR 13 113886382 113886382 single base substitution T C downstream_gene_variant SKCA-BR 13 113886382 113886382 single base substitution T C intron_variant SKCA-BR 13 113886411 113886411 single base substitution T C downstream_gene_variant SKCA-BR 13 113886411 113886411 single base substitution T C intron_variant SKCA-BR 13 113886447 113886447 single base substitution T C downstream_gene_variant SKCA-BR 13 113886447 113886447 single base substitution T C intron_variant SKCA-BR 13 113886483 113886483 single base substitution C T downstream_gene_variant SKCA-BR 13 113886483 113886483 single base substitution C T intron_variant SKCA-BR 13 113887132 113887132 single base substitution T G downstream_gene_variant SKCA-BR 13 113887132 113887132 single base substitution T G intron_variant SKCA-BR 13 113895768 113895768 single base substitution A C downstream_gene_variant SKCA-BR 13 113895768 113895768 single base substitution A C intron_variant SKCA-BR 13 113895768 113895768 single base substitution A C upstream_gene_variant SKCA-BR 13 113903754 113903754 single base substitution C T intron_variant SKCA-BR 13 113916019 113916019 single base substitution G A intron_variant SKCA-BR 13 113917385 113917385 single base substitution G A intron_variant SKCA-BR 13 113918570 113918570 single base substitution C T 3_prime_UTR_variant SKCA-BR 13 113918570 113918570 single base substitution C T downstream_gene_variant SKCA-BR 13 113918571 113918571 single base substitution C T 3_prime_UTR_variant SKCA-BR 13 113918571 113918571 single base substitution C T downstream_gene_variant SKCA-BR 13 113921598 113921598 single base substitution C T downstream_gene_variant SKCA-BR 13 113922482 113922482 single base substitution A C downstream_gene_variant SKCM-US 13 113897351 113897351 single base substitution A C missense_variant K269Q 805A>C SKCM-US 13 113897351 113897351 single base substitution A C missense_variant K369Q 1105A>C SKCM-US 13 113897351 113897351 single base substitution A C upstream_gene_variant SKCM-US 13 113898732 113898732 single base substitution G A exon_variant SKCM-US 13 113898732 113898732 single base substitution G A missense_variant V313M 937G>A SKCM-US 13 113898732 113898732 single base substitution G A missense_variant V413M 1237G>A SKCM-US 13 113898732 113898732 single base substitution G A upstream_gene_variant SKCM-US 13 113899312 113899312 single base substitution C T exon_variant SKCM-US 13 113899312 113899312 single base substitution C T synonymous_variant L361L 1083C>T SKCM-US 13 113899312 113899312 single base substitution C T synonymous_variant L461L 1383C>T SKCM-US 13 113899312 113899312 single base substitution C T upstream_gene_variant SKCM-US 13 113899313 113899313 single base substitution C T exon_variant SKCM-US 13 113899313 113899313 single base substitution C T missense_variant L362F 1084C>T SKCM-US 13 113899313 113899313 single base substitution C T missense_variant L462F 1384C>T SKCM-US 13 113899313 113899313 single base substitution C T upstream_gene_variant SKCM-US 13 113899533 113899533 single base substitution C T exon_variant SKCM-US 13 113899533 113899533 single base substitution C T synonymous_variant I404I 1212C>T SKCM-US 13 113899533 113899533 single base substitution C T synonymous_variant I504I 1512C>T SKCM-US 13 113899533 113899533 single base substitution C T upstream_gene_variant SKCM-US 13 113899540 113899540 single base substitution C T exon_variant SKCM-US 13 113899540 113899540 single base substitution C T missense_variant H407Y 1219C>T SKCM-US 13 113899540 113899540 single base substitution C T missense_variant H507Y 1519C>T SKCM-US 13 113899540 113899540 single base substitution C T upstream_gene_variant SKCM-US 13 113909011 113909011 single base substitution A G exon_variant SKCM-US 13 113909011 113909011 single base substitution A G missense_variant K486R 1457A>G SKCM-US 13 113909011 113909011 single base substitution A G missense_variant K586R 1757A>G SKCM-US 13 113909298 113909298 single base substitution C T downstream_gene_variant SKCM-US 13 113909298 113909298 single base substitution C T exon_variant SKCM-US 13 113909298 113909298 single base substitution C T synonymous_variant S530S 1590C>T SKCM-US 13 113909298 113909298 single base substitution C T synonymous_variant S630S 1890C>T STAD-US 13 113887618 113887618 single base substitution T C downstream_gene_variant STAD-US 13 113887618 113887618 single base substitution T C exon_variant STAD-US 13 113887618 113887618 single base substitution T C synonymous_variant L114L 340T>C STAD-US 13 113887618 113887618 single base substitution T C synonymous_variant L214L 640T>C STAD-US 13 113893752 113893752 single base substitution G A downstream_gene_variant STAD-US 13 113893752 113893752 single base substitution G A missense_variant D208N 622G>A STAD-US 13 113893752 113893752 single base substitution G A missense_variant D308N 922G>A STAD-US 13 113893752 113893752 single base substitution G A upstream_gene_variant STAD-US 13 113899329 113899329 single base substitution C T exon_variant STAD-US 13 113899329 113899329 single base substitution C T missense_variant A367V 1100C>T STAD-US 13 113899329 113899329 single base substitution C T missense_variant A467V 1400C>T STAD-US 13 113899329 113899329 single base substitution C T upstream_gene_variant STAD-US 13 113900295 113900295 single base substitution G A exon_variant STAD-US 13 113900295 113900295 single base substitution G A missense_variant G419D 1256G>A STAD-US 13 113900295 113900295 single base substitution G A missense_variant G519D 1556G>A STAD-US 13 113900350 113900350 single base substitution G A exon_variant STAD-US 13 113900350 113900350 single base substitution G A synonymous_variant T437T 1311G>A STAD-US 13 113900350 113900350 single base substitution G A synonymous_variant T537T 1611G>A STAD-US 13 113909114 113909114 single base substitution T C downstream_gene_variant STAD-US 13 113909114 113909114 single base substitution T C splice_donor_variant UCEC-US 13 113887602 113887602 single base substitution C T downstream_gene_variant UCEC-US 13 113887602 113887602 single base substitution C T exon_variant UCEC-US 13 113887602 113887602 single base substitution C T synonymous_variant A108A 324C>T UCEC-US 13 113887602 113887602 single base substitution C T synonymous_variant A208A 624C>T UCEC-US 13 113888220 113888220 single base substitution G T downstream_gene_variant UCEC-US 13 113888220 113888220 single base substitution G T exon_variant UCEC-US 13 113888220 113888220 single base substitution G T missense_variant D129Y 385G>T UCEC-US 13 113888220 113888220 single base substitution G T missense_variant D229Y 685G>T UCEC-US 13 113891167 113891167 single base substitution G T downstream_gene_variant UCEC-US 13 113891167 113891167 single base substitution G T missense_variant Q193H 579G>T UCEC-US 13 113891167 113891167 single base substitution G T missense_variant Q293H 879G>T UCEC-US 13 113891192 113891192 single base substitution A G downstream_gene_variant UCEC-US 13 113891192 113891192 single base substitution A G missense_variant I202V 604A>G UCEC-US 13 113891192 113891192 single base substitution A G missense_variant I302V 904A>G UCEC-US 13 113893854 113893854 single base substitution G A downstream_gene_variant UCEC-US 13 113893854 113893854 single base substitution G A missense_variant E242K 724G>A UCEC-US 13 113893854 113893854 single base substitution G A missense_variant E342K 1024G>A UCEC-US 13 113893854 113893854 single base substitution G A upstream_gene_variant UCEC-US 13 113897449 113897449 single base substitution A G synonymous_variant R301R 903A>G UCEC-US 13 113897449 113897449 single base substitution A G synonymous_variant R401R 1203A>G UCEC-US 13 113897449 113897449 single base substitution A G upstream_gene_variant UCEC-US 13 113898762 113898762 single base substitution G T exon_variant UCEC-US 13 113898762 113898762 single base substitution G T stop_gained E323* 967G>T UCEC-US 13 113898762 113898762 single base substitution G T stop_gained E423* 1267G>T UCEC-US 13 113898762 113898762 single base substitution G T upstream_gene_variant UCEC-US 13 113898790 113898790 single base substitution C T exon_variant UCEC-US 13 113898790 113898790 single base substitution C T missense_variant T332M 995C>T UCEC-US 13 113898790 113898790 single base substitution C T missense_variant T432M 1295C>T UCEC-US 13 113898790 113898790 single base substitution C T upstream_gene_variant UCEC-US 13 113909065 113909065 single base substitution A C exon_variant UCEC-US 13 113909065 113909065 single base substitution A C missense_variant E504A 1511A>C UCEC-US 13 113909065 113909065 single base substitution A C missense_variant E604A 1811A>C UCEC-US 13 113909104 113909104 single base substitution C T downstream_gene_variant UCEC-US 13 113909104 113909104 single base substitution C T exon_variant UCEC-US 13 113909104 113909104 single base substitution C T missense_variant T517M 1550C>T UCEC-US 13 113909104 113909104 single base substitution C T missense_variant T617M 1850C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand pfg016T COSM1639296 c.755T>C p.V252A Substitution - Missense 13:113242987-113242987 + TCGA-FP-8211-01 COSM4046182 c.340T>C p.L114L Substitution - coding silent 13:113233304-113233304 + CP66-MEL COSM21713 c.194C>T p.S65F Substitution - Missense 13:113229501-113229501 + LUAD-F00121 COSM365672 c.1452+1G>C p.? Unknown 13:113253196-113253196 + TCGA-AP-A051-01 COSM945575 c.579G>T p.Q193H Substitution - Missense 13:113236853-113236853 + ESCC_11 COSM5624263 c.339C>A p.H113Q Substitution - Missense 13:113219019-113219019 + TCGA-FW-A3R5-06 COSM3872872 c.1590C>T p.S530S Substitution - coding silent 13:113254984-113254984 + TCGA-GM-A2DB-01 COSM3813468 c.2081A>G p.Y694C Substitution - Missense 13:113260656-113260656 + TCGA-DK-A3IN-01 COSM3793146 c.1545G>T p.Q515H Substitution - Missense 13:113245970-113245970 + BRC16 COSM5027813 c.1534G>A p.E512K Substitution - Missense 13:113254774-113254774 + TCGA-B5-A11G-01 COSM945581 c.1511A>C p.E504A Substitution - Missense 13:113254751-113254751 + BRC16 COSM5027812 c.1834G>A p.E612K Substitution - Missense 13:113254774-113254774 + Pat_06_A COSM1365587 c.520G>A p.V174I Substitution - Missense 13:113235117-113235117 + TCGA-HT-7688-01 COSM3968541 c.861T>C p.I287I Substitution - coding silent 13:113236835-113236835 + AOCS-120-3-6 COSM3981942 c.1863T>C p.D621D Substitution - coding silent 13:113254957-113254957 + HT115 COSM2264238 c.1407C>T p.V469V Substitution - coding silent 13:113245022-113245022 + TCGA-EE-A29R-06 COSM3467387 c.1237G>A p.V413M Substitution - Missense 13:113244418-113244418 + PD4958a COSM5788184 c.2025G>T p.K675N Substitution - Missense 13:113255119-113255119 + RK124_C01 COSM3700385 c.1440G>A p.K480K Substitution - coding silent 13:113245055-113245055 + TCGA-AD-6964-01 COSM3688627 c.123C>T p.D41D Substitution - coding silent 13:113228030-113228030 + HT115 COSM2264239 c.1107C>T p.V369V Substitution - coding silent 13:113245022-113245022 + TCGA-FP-8211-01 COSM4046181 c.640T>C p.L214L Substitution - coding silent 13:113233304-113233304 + PTC-7C COSM3753593 c.1074C>T p.D358D Substitution - coding silent 13:113243006-113243006 + TCGA-BT-A2LB-01 COSM3793144 c.1005G>T p.A335A Substitution - coding silent 13:113239521-113239521 + BD57T COSM5510678 c.368+7delT p.? Unknown 13:113219055-113219055 + PT36 COSM5916312 c.1909G>A p.E637K Substitution - Missense 13:113263511-113263511 + PD4098a COSM160279 c.1591C>T p.L531L Substitution - coding silent 13:113254985-113254985 + SNUH_G16_S1 COSM2264210 c.951G>A p.P317P Substitution - coding silent 13:113239467-113239467 + TCGA-D1-A16Y-01 COSM945580 c.995C>T p.T332M Substitution - Missense 13:113244476-113244476 + TCGA-EE-A29E-06 COSM3467391 c.1384C>T p.L462F Substitution - Missense 13:113244999-113244999 + S00827 COSM310415 c.297G>T p.L99L Substitution - coding silent 13:113233261-113233261 + YUSCA COSM5376444 c.1800C>T p.I600I Substitution - coding silent 13:113260675-113260675 + TCGA-EE-A2MD-06 COSM3467389 c.1383C>T p.L461L Substitution - coding silent 13:113244998-113244998 + TCGA-EE-A2MC-06 COSM3467398 c.1457A>G p.K486R Substitution - Missense 13:113254697-113254697 + TCGA-DK-A3IN-01 COSM3793147 c.1245G>T p.Q415H Substitution - Missense 13:113245970-113245970 + 90 COSM5015827 c.958G>A p.A320T Substitution - Missense 13:113239474-113239474 + PT36 COSM5916310 c.1927G>A p.D643N Substitution - Missense 13:113263529-113263529 + TCGA-CD-A4MG-01 COSM4046186 c.1100C>T p.A367V Substitution - Missense 13:113245015-113245015 + TCGA-D1-A167-01 COSM945573 c.324C>T p.A108A Substitution - coding silent 13:113233288-113233288 + TCGA-GL-8500-01 COSM3987316 c.1834C>G p.H612D Substitution - Missense 13:113260709-113260709 + BD57T COSM5510679 c.69+6delT p.? Unknown 13:113219055-113219055 + TCGA-AA-3715-01 COSM293625 c.1093_1094delAA p.S366fs*6 Deletion - Frameshift 13:113245008-113245009 + YUNEKI COSM5376438 c.1767C>T p.F589F Substitution - coding silent 13:113254707-113254707 + TCGA-EK-A3GK-01 COSM4853850 c.1437C>T p.L479L Substitution - coding silent 13:113245052-113245052 + TCGA-AA-A010-01 COSM280229 c.748G>A p.A250T Substitution - Missense 13:113242980-113242980 + TCGA-DS-A1OC-01 COSM1293503 c.790G>C p.D264H Substitution - Missense 13:113243022-113243022 + 2492730 COSM5729038 c.852G>A p.E284E Substitution - coding silent 13:113243084-113243084 + CSCC-20-T COSM3688626 c.423C>T p.D141D Substitution - coding silent 13:113228030-113228030 + YUSCA COSM5376443 c.2100C>T p.I700I Substitution - coding silent 13:113260675-113260675 + TCGA-DK-A3X1-01 COSM3793142 c.619G>A p.E207K Substitution - Missense 13:113233283-113233283 + TCGA-DD-A3A2-01 COSM4928983 c.1282G>T p.E428* Substitution - Nonsense 13:113244463-113244463 + YUNEKI COSM1365589 c.1468C>T p.Q490* Substitution - Nonsense 13:113254708-113254708 + PD4958a COSM5788185 c.1725G>T p.K575N Substitution - Missense 13:113255119-113255119 + RK124_C01 COSM3700386 c.1140G>A p.K380K Substitution - coding silent 13:113245055-113245055 + LIM2551 COSM4643768 c.1740G>A p.A580A Substitution - coding silent 13:113253183-113253183 + SNUH_G16_S1 COSM2264211 c.651G>A p.P217P Substitution - coding silent 13:113239467-113239467 + ESCC_BICR_020T COSM5429159 c.2217G>C p.L739L Substitution - coding silent 13:113263519-113263519 + T2926 COSM4675566 c.625G>A p.V209M Substitution - Missense 13:113233289-113233289 + T8 COSM3753593 c.1074C>T p.D358D Substitution - coding silent 13:113243006-113243006 + Pat_06_A COSM5092074 c.820G>A p.V274I Substitution - Missense 13:113235117-113235117 + TCGA-CD-A4MG-01 COSM4046190 c.1311G>A p.T437T Substitution - coding silent 13:113246036-113246036 + CSCC-31-T COSM4452228 c.1398A>G p.K466K Substitution - coding silent 13:113253141-113253141 + PT36 COSM5916311 c.2209G>A p.E737K Substitution - Missense 13:113263511-113263511 + YUHEF COSM1707047 c.1030C>T p.H344Y Substitution - Missense 13:113244511-113244511 + TCGA-AP-A0LM-01 COSM945577 c.724G>A p.E242K Substitution - Missense 13:113239540-113239540 + TCGA-E2-A2P6-01 COSM3813466 c.1445-1G>A p.? Unknown 13:113245151-113245151 + TCGA-GM-A2DB-01 COSM3813469 c.1781A>G p.Y594C Substitution - Missense 13:113260656-113260656 + T8 COSM3753594 c.774C>T p.D258D Substitution - coding silent 13:113243006-113243006 + B89-12-Tumor COSM3931791 c.2219T>A p.I740K Substitution - Missense 13:113263521-113263521 + Pat_41_B COSM5842211 c.1452+1G>A p.? Unknown 13:113253196-113253196 + LC_C21 COSM1188751 c.169G>A p.D57N Substitution - Missense 13:113229476-113229476 + LS411 COSM2264246 c.1667C>T p.A556V Substitution - Missense 13:113253110-113253110 + TCGA-EE-A2MD-06 COSM3467390 c.1083C>T p.L361L Substitution - coding silent 13:113244998-113244998 + CSCC-5-T COSM4529559 c.1321G>A p.V441M Substitution - Missense 13:113246046-113246046 + TCGA-GN-A266-06 COSM3467396 c.1219C>T p.H407Y Substitution - Missense 13:113245226-113245226 + TCGA-D8-A1XR-01 COSM5225944 c.1146G>A p.K382K Substitution - coding silent 13:113243078-113243078 + TCGA-C5-A1BQ-01 COSM2264214 c.978C>T p.F326F Substitution - coding silent 13:113239494-113239494 + TCGA-AM-5821-01 COSM3753594 c.774C>T p.D258D Substitution - coding silent 13:113243006-113243006 + Au4 COSM5603316 c.1743G>T p.Q581H Substitution - Missense 13:113260618-113260618 + S00827 COSM5659481 c.597G>T p.L199L Substitution - coding silent 13:113233261-113233261 + B89-12 COSM1747350 c.1919T>A p.I640K Substitution - Missense 13:113263521-113263521 + Pat_41_B COSM5842210 c.1752+1G>A p.? Unknown 13:113253196-113253196 + TCGA-AD-6964-01 COSM3688626 c.423C>T p.D141D Substitution - coding silent 13:113228030-113228030 + TCGA-GN-A266-06 COSM3467395 c.1519C>T p.H507Y Substitution - Missense 13:113245226-113245226 + CRC-19T COSM5481110 c.1448G>A p.C483Y Substitution - Missense 13:113245155-113245155 + TCGA-B7-5816-01 COSM4046192 c.1558+2T>C p.? Unknown 13:113254800-113254800 + AOCS-120-3-6 COSM3981943 c.1563T>C p.D521D Substitution - coding silent 13:113254957-113254957 + TCGA-D3-A5GS-06 COSM3467385 c.1105A>C p.K369Q Substitution - Missense 13:113243037-113243037 + TCGA-CA-6717-01 COSM5827353 c.1673A>G p.Y558C Substitution - Missense 13:113253116-113253116 + TCGA-D1-A17Q-01 COSM945574 c.385G>T p.D129Y Substitution - Missense 13:113233906-113233906 + KPOPBR-27-T COSM5966067 c.2217G>A p.L739L Substitution - coding silent 13:113263519-113263519 + PCSI_0017_Pa_P COSM4965271 c.1230+10G>C p.? Unknown 13:113245247-113245247 + Case2 COSM1579217 c.112T>G p.C38G Substitution - Missense 13:113228019-113228019 + LIM2551 COSM4643769 c.1440G>A p.A480A Substitution - coding silent 13:113253183-113253183 + TCGA-AM-5821-01 COSM3753596 c.1631A>G p.K544R Substitution - Missense 13:113255025-113255025 + YUSCA COSM5376442 c.1738G>C p.E580Q Substitution - Missense 13:113260613-113260613 + PTC-7C COSM4147611 c.1258C>T p.P420S Substitution - Missense 13:113245983-113245983 + RK032_C01 COSM1628997 c.1074delA p.R360fs*62 Deletion - Frameshift 13:113244989-113244989 + CP66-MEL COSM21713 c.194C>T p.S65F Substitution - Missense 13:113229501-113229501 + TCGA-EE-A29E-06 COSM3467392 c.1084C>T p.L362F Substitution - Missense 13:113244999-113244999 + TCGA-AM-5821-01 COSM3753595 c.1931A>G p.K644R Substitution - Missense 13:113255025-113255025 + PCSI_0017_Pa_P COSM4965270 c.1530+10G>C p.? Unknown 13:113245247-113245247 + T2926 COSM4675567 c.325G>A p.V109M Substitution - Missense 13:113233289-113233289 + TCGA-AA-3510-01 COSM1365592 c.1726G>A p.E576K Substitution - Missense 13:113255120-113255120 + CSCC-42-T COSM4474090 c.1895C>T p.A632V Substitution - Missense 13:113254989-113254989 + TCGA-D3-A5GS-06 COSM3467386 c.805A>C p.K269Q Substitution - Missense 13:113243037-113243037 + TCGA-DS-A0VN-01 COSM459319 c.1717C>G p.Q573E Substitution - Missense 13:113255111-113255111 + TCGA-Q1-A73O-01 COSM4835420 c.2112G>A p.M704I Substitution - Missense 13:113260687-113260687 + D-13 COSM4766892 c.184A>T p.T62S Substitution - Missense 13:113210008-113210008 + CSCC-20-T COSM3688627 c.123C>T p.D41D Substitution - coding silent 13:113228030-113228030 + ESO-859 COSM1238619 c.1422A>G p.G474G Substitution - coding silent 13:113253165-113253165 + CP66-MEL COSM21713 c.194C>T p.S65F Substitution - Missense 13:113229501-113229501 + Au4 COSM5603315 c.2043G>T p.Q681H Substitution - Missense 13:113260618-113260618 + ESCC_11 COSM5624264 c.39C>A p.H13Q Substitution - Missense 13:113219019-113219019 + STC263 COSM5052073 c.957A>G p.A319A Substitution - coding silent 13:113244438-113244438 + 273T COSM1727312 c.1108G>A p.D370N Substitution - Missense 13:113245023-113245023 + TCGA-AA-3510-01 COSM5099111 c.2026G>A p.E676K Substitution - Missense 13:113255120-113255120 + 3N07-VS-3T07 COSM4978895 c.1309A>G p.M437V Substitution - Missense 13:113244490-113244490 + TCGA-BR-4187-01 COSM4046184 c.622G>A p.D208N Substitution - Missense 13:113239438-113239438 + YUNEKI COSM5376440 c.1768C>T p.Q590* Substitution - Nonsense 13:113254708-113254708 + TCGA-B7-5816-01 COSM4046191 c.1858+2T>C p.? Unknown 13:113254800-113254800 + KPOPBR-27-T COSM5966068 c.1917G>A p.L639L Substitution - coding silent 13:113263519-113263519 + B89-12-Tumor COSM1747350 c.1919T>A p.I640K Substitution - Missense 13:113263521-113263521 + CSCC-42-T COSM4474091 c.1595C>T p.A532V Substitution - Missense 13:113254989-113254989 + 90 COSM5015828 c.658G>A p.A220T Substitution - Missense 13:113239474-113239474 + TCGA-EE-A29R-06 COSM3467388 c.937G>A p.V313M Substitution - Missense 13:113244418-113244418 + TCGA-E2-A2P6-01 COSM3813467 c.1145-1G>A p.? Unknown 13:113245151-113245151 + YUNEKI COSM5376439 c.1467C>T p.F489F Substitution - coding silent 13:113254707-113254707 + TCGA-D8-A1XR-01 COSM1477093 c.846G>A p.K282K Substitution - coding silent 13:113243078-113243078 + PTC-7C COSM4147610 c.1558C>T p.P520S Substitution - Missense 13:113245983-113245983 + TCGA-AP-A0LP-01 COSM945576 c.604A>G p.I202V Substitution - Missense 13:113236878-113236878 + TCGA-GN-A26C-01 COSM3467394 c.1212C>T p.I404I Substitution - coding silent 13:113245219-113245219 + TCGA-D8-A1XF-01 COSM1477094 c.1005G>C p.K335N Substitution - Missense 13:113244486-113244486 + TCGA-A6-6653-01 COSM5092074 c.820G>A p.V274I Substitution - Missense 13:113235117-113235117 + TCGA-A6-6653-01 COSM1365587 c.520G>A p.V174I Substitution - Missense 13:113235117-113235117 + 587278 COSM1202685 c.704C>T p.A235V Substitution - Missense 13:113239520-113239520 + CSCC-5-T COSM4529558 c.1621G>A p.V541M Substitution - Missense 13:113246046-113246046 + TCGA-EE-A2MC-06 COSM3467397 c.1757A>G p.K586R Substitution - Missense 13:113254697-113254697 + TCGA-AM-5821-01 COSM3753593 c.1074C>T p.D358D Substitution - coding silent 13:113243006-113243006 + TCGA-EK-A3GK-01 COSM4853851 c.1137C>T p.L379L Substitution - coding silent 13:113245052-113245052 + MB125PT COSM88046 c.376-2A>C p.? Unknown 13:113233895-113233895 + CSCC-31-T COSM4452227 c.1698A>G p.K566K Substitution - coding silent 13:113253141-113253141 + TCGA-EE-A3JD-06 COSM3872871 c.1890C>T p.S630S Substitution - coding silent 13:113254984-113254984 + STC263 COSM5052072 c.1257A>G p.A419A Substitution - coding silent 13:113244438-113244438 + TCGA-EE-A3JD-06 COSM3872872 c.1590C>T p.S530S Substitution - coding silent 13:113254984-113254984 + CSCC-20-T COSM4532168 c.1561G>A p.D521N Substitution - Missense 13:113254955-113254955 + TCGA-Q1-A73O-01 COSM4835421 c.1812G>A p.M604I Substitution - Missense 13:113260687-113260687 + PT36 COSM5916309 c.2227G>A p.D743N Substitution - Missense 13:113263529-113263529 + TCGA-C5-A1BQ-01 COSM2264215 c.678C>T p.F226F Substitution - coding silent 13:113239494-113239494 + TCGA-B5-A11N-01 COSM945578 c.903A>G p.R301R Substitution - coding silent 13:113243135-113243135 + TCGA-BR-4187-01 COSM4046183 c.922G>A p.D308N Substitution - Missense 13:113239438-113239438 + YUSCA COSM5376441 c.2038G>C p.E680Q Substitution - Missense 13:113260613-113260613 + CN-AML-CR-21-Dx COSM3753596 c.1631A>G p.K544R Substitution - Missense 13:113255025-113255025 + TCGA-AX-A05Z-01 COSM945579 c.967G>T p.E323* Substitution - Nonsense 13:113244448-113244448 + TCGA-CD-A4MG-01 COSM4046189 c.1611G>A p.T537T Substitution - coding silent 13:113246036-113246036 + TCGA-GN-A26C-01 COSM3467393 c.1512C>T p.I504I Substitution - coding silent 13:113245219-113245219 + TCGA-CA-6717-01 COSM1365588 c.1373A>G p.Y458C Substitution - Missense 13:113253116-113253116 + TCGA-DD-A3A2-01 COSM4928984 c.982G>T p.E328* Substitution - Nonsense 13:113244463-113244463 + 3N07-VS-3T07 COSM4978896 c.1009A>G p.M337V Substitution - Missense 13:113244490-113244490 + LC_S17 COSM1191069 c.1446_1447insT p.K483fs*1 Insertion - Frameshift 13:113253189-113253190 + BD6T COSM5499177 c.1580C>T p.T527M Substitution - Missense 13:113254974-113254974 + TCGA-DK-A3X1-01 COSM3793143 c.319G>A p.E107K Substitution - Missense 13:113233283-113233283 + TCGA-HU-8602-01 COSM4046188 c.1256G>A p.G419D Substitution - Missense 13:113245981-113245981 + TCGA-AX-A0J1-01 COSM945582 c.1550C>T p.T517M Substitution - Missense 13:113254790-113254790 + PTC-7C COSM3753594 c.774C>T p.D258D Substitution - coding silent 13:113243006-113243006 + S00827 COSM310415 c.297G>T p.L99L Substitution - coding silent 13:113233261-113233261 + 313 COSM1741972 c.146G>T p.R49L Substitution - Missense 13:113209773-113209773 + LC_S27 COSM1188752 c.1029C>G p.I343M Substitution - Missense 13:113244510-113244510 + ME037T COSM227860 c.955G>A p.A319T Substitution - Missense 13:113244436-113244436 + TCGA-BT-A2LB-01 COSM3793145 c.705G>T p.A235A Substitution - coding silent 13:113239521-113239521 + MO_1008 COSM5572485 c.1029C>A p.Y343* Substitution - Nonsense 13:113239545-113239545 + TCGA-GL-8500-01 COSM3987315 c.2134C>G p.H712D Substitution - Missense 13:113260709-113260709 + BCM257T COSM4951535 c.165C>G p.P55P Substitution - coding silent 13:113209989-113209989 + TCGA-HT-7688-01 COSM3968542 c.561T>C p.I187I Substitution - coding silent 13:113236835-113236835 + CRC-19T COSM5481111 c.1148G>A p.C383Y Substitution - Missense 13:113245155-113245155 + TCGA-D8-A1XF-01 COSM5224563 c.1305G>C p.K435N Substitution - Missense 13:113244486-113244486 + 313 COSM1741973 c.1815G>C p.K605N Substitution - Missense 13:113260690-113260690 + TCGA-CD-A4MG-01 COSM4046185 c.1400C>T p.A467V Substitution - Missense 13:113245015-113245015 + TCGA-HU-8602-01 COSM4046187 c.1556G>A p.G519D Substitution - Missense 13:113245981-113245981 + MO_1008 COSM5572486 c.729C>A p.Y243* Substitution - Nonsense 13:113239545-113239545 + BD6T COSM5499176 c.1880C>T p.T627M Substitution - Missense 13:113254974-113254974 + CN-AML-CR-21-Dx COSM3753595 c.1931A>G p.K644R Substitution - Missense 13:113255025-113255025 + BCM257T COSM4951535 c.165C>G p.P55P Substitution - coding silent 13:113209989-113209989 + ESCC_BICR_020T COSM5429160 c.1917G>C p.L639L Substitution - coding silent 13:113263519-113263519 + 587376 COSM1202686 c.1694T>G p.F565C Substitution - Missense 13:113255088-113255088 + 2492730 COSM5729037 c.1152G>A p.E384E Substitution - coding silent 13:113243084-113243084 + TCGA-FW-A3R5-06 COSM3872871 c.1890C>T p.S630S Substitution - coding silent 13:113254984-113254984 + CSCC-20-T COSM4532167 c.1861G>A p.D621N Substitution - Missense 13:113254955-113254955 + LS411 COSM2264247 c.1367C>T p.A456V Substitution - Missense 13:113253110-113253110 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.339735 13q34 603137 1507507|dbSNP|BC008308|C/T|coding|Asp258Asp|1084|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E604A c.1811A>C 13 113909065 UCEC A C Missense p.Q690P c.2069A>C 13 113914958 HNSC A - Frameshift p.A458Efs*64 c.1373delC 13 113899302 HC A G Missense p.I302V c.904A>G 13 113891192 UCEC A G Missense p.K586R c.1757A>G 13 113909011 CM A G Synonymous p.G574G c.1722A>G 13 113907479 ESCA C T Missense p.T432M c.1295C>T 13 113898790 UCEC C T Synonymous p.I504I c.1512C>T 13 113899533 CM C T Synonymous p.L461L c.1383C>T 13 113899312 CM C T Synonymous p.L631L c.1891C>T 13 113909299 BRCA C T Synonymous p.P402P c.1206C>T 13 113897452 LUAD C T Synonymous p.S630S c.1890C>T 13 113909298 CM G A Missense p.A419T c.1255G>A 13 113898750 CM G A Missense p.D308N c.922G>A 13 113893752 STAD G A Missense p.D456N c.1366G>A 13 113899295 COREAD G A Missense p.E612K c.1834G>A 13 113909088 BRCA G A Missense p.V375M c.1123G>A 13 113897369 LUAD G A Missense p.V413M c.1237G>A 13 113898732 CM G A Synonymous p.K382K c.1146G>A 13 113897392 BRCA G A Synonymous p.L198L c.594G>A 13 113887572 HNSC G C Missense p.G645A c.1934G>C 13 113909342 MM G C Missense p.K435N c.1305G>C 13 113898800 BRCA G C SpliceAcceptorSNV . c.439-1G>C 13 113883759 LUAD G T IntronicSNV . c.512+21G>T 13 113883854 NSCLC G T Missense p.G585W c.1753G>T 13 113909007 STAD G T Missense p.L573F c.1719G>T 13 113907476 LUAD G T Missense p.Q515H c.1545G>T 13 113900284 BLCA G T Synonymous p.A335A c.1005G>T 13 113893835 BLCA G T Synonymous p.L199L c.597G>T 13 113887575 SCLC T C Missense p.V352A c.1055T>C 13 113897301 STAD T C SpliceDonorSNV . c.1858+2T>C 13 113909114 STAD T C Synonymous p.I287I c.861T>C 13 113891149 LGG