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 1 32741016 32741016 + Nonsense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:32741016G>T c.373G>T c.(373-375)Gaa>Taa p.E125* BLCA 1 32741583 32741583 + Missense_Mutation SNP C C T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr1:32741583C>T c.550C>T c.(550-552)Cgt>Tgt p.R184C BLCA 1 32742252 32742252 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr1:32742252C>A c.829C>A c.(829-831)Cag>Aag p.Q277K BLCA 1 32745472 32745472 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr1:32745472C>A c.1072C>A c.(1072-1074)Cgg>Agg p.R358R BLCA 1 32745564 32745564 + Silent SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr1:32745564C>T c.1164C>T c.(1162-1164)ctC>ctT p.L388L BRCA 1 32741215 32741215 + Silent SNP C C T TCGA-A2-A0EQ-01A-11W-A050-09 TCGA-A2-A0EQ-10A-01W-A055-09 g.chr1:32741215C>T c.423C>T c.(421-423)ctC>ctT p.L141L BRCA 1 32742227 32742227 + Silent SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 g.chr1:32742227G>A c.804G>A c.(802-804)acG>acA p.T268T BRCA 1 32745462 32745462 + Missense_Mutation SNP C C A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 g.chr1:32745462C>A c.1062C>A c.(1060-1062)ttC>ttA p.F354L BRCA 1 32751206 32751206 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:32751206G>A c.1419G>A c.(1417-1419)atG>atA p.M473I COAD 1 32740971 32740971 + Missense_Mutation SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:32740971T>C c.328T>C c.(328-330)Ttc>Ctc p.F110L COAD 1 32741521 32741521 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:32741521T>C c.488T>C c.(487-489)tTt>tCt p.F163S COAD 1 32741521 32741521 + Missense_Mutation SNP T T C TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr1:32741521T>C c.488T>C c.(487-489)tTt>tCt p.F163S COAD 1 32741971 32741971 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:32741971G>A c.665G>A c.(664-666)cGc>cAc p.R222H COAD 1 32742001 32742001 + Missense_Mutation SNP C C T TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr1:32742001C>T c.695C>T c.(694-696)cCg>cTg p.P232L COAD 1 32742228 32742228 + Missense_Mutation SNP A A G TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr1:32742228A>G c.805A>G c.(805-807)Aag>Gag p.K269E COAD 1 32742229 32742229 + Missense_Mutation SNP A A G TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr1:32742229A>G c.806A>G c.(805-807)aAg>aGg p.K269R COAD 1 32742230 32742230 + Missense_Mutation SNP G G T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:32742230G>T c.807G>T c.(805-807)aaG>aaT p.K269N COAD 1 32742272 32742272 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:32742272C>T c.849C>T c.(847-849)gaC>gaT p.D283D COAD 1 32745786 32745786 + Silent SNP C C A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:32745786C>A c.1302C>A c.(1300-1302)gtC>gtA p.V434V COADREAD 1 32740971 32740971 + Missense_Mutation SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:32740971T>C c.328T>C c.(328-330)Ttc>Ctc p.F110L COADREAD 1 32741521 32741521 + Missense_Mutation SNP T T C TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr1:32741521T>C c.488T>C c.(487-489)tTt>tCt p.F163S COADREAD 1 32741521 32741521 + Missense_Mutation SNP T T C TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr1:32741521T>C c.488T>C c.(487-489)tTt>tCt p.F163S COADREAD 1 32741530 32741530 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:32741530C>T c.497C>T c.(496-498)tCg>tTg p.S166L COADREAD 1 32741971 32741971 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:32741971G>A c.665G>A c.(664-666)cGc>cAc p.R222H COADREAD 1 32742001 32742001 + Missense_Mutation SNP C C T TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr1:32742001C>T c.695C>T c.(694-696)cCg>cTg p.P232L COADREAD 1 32742228 32742228 + Missense_Mutation SNP A A G TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr1:32742228A>G c.805A>G c.(805-807)Aag>Gag p.K269E COADREAD 1 32742229 32742229 + Missense_Mutation SNP A A G TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr1:32742229A>G c.806A>G c.(805-807)aAg>aGg p.K269R COADREAD 1 32742230 32742230 + Missense_Mutation SNP G G T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:32742230G>T c.807G>T c.(805-807)aaG>aaT p.K269N COADREAD 1 32742272 32742272 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:32742272C>T c.849C>T c.(847-849)gaC>gaT p.D283D COADREAD 1 32745786 32745786 + Silent SNP C C A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:32745786C>A c.1302C>A c.(1300-1302)gtC>gtA p.V434V ESCA 1 32740999 32740999 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:32740999C>T c.356C>T c.(355-357)gCg>gTg p.A119V GBM 1 32740011 32740011 + Silent SNP A A T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr1:32740011A>T c.81A>T c.(79-81)atA>atT p.I27I GBMLGG 1 32740011 32740011 + Silent SNP A A T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr1:32740011A>T c.81A>T c.(79-81)atA>atT p.I27I GBMLGG 1 32740031 32740031 + Missense_Mutation SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 g.chr1:32740031G>A c.101G>A c.(100-102)gGc>gAc p.G34D HNSC 1 32739961 32739961 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr1:32739961G>A c.31G>A c.(31-33)Gat>Aat p.D11N HNSC 1 32740021 32740021 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr1:32740021G>T c.91G>T c.(91-93)Gat>Tat p.D31Y HNSC 1 32740034 32740034 + Splice_Site SNP C C T TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 g.chr1:32740034C>T c.104C>T c.(103-105)aCg>aTg p.T35M HNSC 1 32740385 32740385 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr1:32740385C>T c.153C>T c.(151-153)taC>taT p.Y51Y HNSC 1 32742008 32742008 + Nonsense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:32742008G>A c.702G>A c.(700-702)tgG>tgA p.W234* HNSC 1 32745441 32745441 + Splice_Site SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr1:32745441G>A c.e11-1 KICH 1 32741193 32741193 + Missense_Mutation SNP G G A TCGA-KN-8437-01A-11D-2310-10 TCGA-KN-8437-11A-01D-2311-10 g.chr1:32741193G>A c.401G>A c.(400-402)cGc>cAc p.R134H KIPAN 1 32741193 32741193 + Missense_Mutation SNP G G A TCGA-KN-8437-01A-11D-2310-10 TCGA-KN-8437-11A-01D-2311-10 g.chr1:32741193G>A c.401G>A c.(400-402)cGc>cAc p.R134H LGG 1 32740031 32740031 + Missense_Mutation SNP G G A TCGA-TQ-A7RV-01A-21D-A34A-08 TCGA-TQ-A7RV-10A-01D-A34A-08 g.chr1:32740031G>A c.101G>A c.(100-102)gGc>gAc p.G34D LIHC 1 32740006 32740006 + Missense_Mutation SNP C C G TCGA-G3-A6UC-01A-21D-A33K-10 TCGA-G3-A6UC-10A-01D-A33K-10 g.chr1:32740006C>G c.76C>G c.(76-78)Ccc>Gcc p.P26A LIHC 1 32741654 32741655 + Missense_Mutation DNP CC CC AA TCGA-CC-A5UE-01A-11D-A28X-10 TCGA-CC-A5UE-10A-01D-A28X-10 g.chr1:32741654_32741655CC>AA c.621_622CC>AA c.(619-624)cgCCat>cgAAat p.H208N LIHC 1 32742265 32742265 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:32742265delC c.842delC c.(841-843)tccfs p.S281fs LIHC 1 32742349 32742349 + Missense_Mutation SNP A A T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr1:32742349A>T c.926A>T c.(925-927)cAg>cTg p.Q309L LUAD 1 32739958 32739958 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:32739958G>A c.28G>A c.(28-30)Gaa>Aaa p.E10K LUAD 1 32740035 32740035 + Splice_Site SNP G G T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:32740035G>T c.105G>T c.(103-105)acG>acT p.T35T LUAD 1 32740623 32740623 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr1:32740623G>T c.217G>T c.(217-219)Gag>Tag p.E73* LUAD 1 32741606 32741606 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr1:32741606C>G c.573C>G c.(571-573)ttC>ttG p.F191L LUAD 1 32741968 32741969 + Frame_Shift_Ins INS - - A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr1:32741968_32741969insA c.662_663insA c.(661-666)agccgcfs p.SR221fs LUAD 1 32745271 32745271 + Splice_Site SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr1:32745271G>C c.e10-1 LUAD 1 32745303 32745303 + Silent SNP A A C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr1:32745303A>C c.996A>C c.(994-996)tcA>tcC p.S332S LUAD 1 32745315 32745315 + Silent SNP G G A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr1:32745315G>A c.1008G>A c.(1006-1008)ttG>ttA p.L336L LUAD 1 32745748 32745748 + Missense_Mutation SNP G G C TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr1:32745748G>C c.1264G>C c.(1264-1266)Gat>Cat p.D422H LUAD 1 32751131 32751131 + Missense_Mutation SNP G G T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chr1:32751131G>T c.1344G>T c.(1342-1344)gaG>gaT p.E448D LUAD 1 32751144 32751144 + Missense_Mutation SNP C C G TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 g.chr1:32751144C>G c.1357C>G c.(1357-1359)Ctg>Gtg p.L453V LUSC 1 32740636 32740636 + Missense_Mutation SNP A A T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr1:32740636A>T c.230A>T c.(229-231)gAc>gTc p.D77V LUSC 1 32742069 32742069 + Missense_Mutation SNP C C G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 g.chr1:32742069C>G c.763C>G c.(763-765)Cag>Gag p.Q255E LUSC 1 32742336 32742336 + Missense_Mutation SNP G G A TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr1:32742336G>A c.913G>A c.(913-915)Gct>Act p.A305T OV 1 32739985 32739985 + Missense_Mutation SNP G G T TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 g.chr1:32739985G>T c.55G>T c.(55-57)Gtg>Ttg p.V19L OV 1 32745786 32745786 + Silent SNP C C T TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 g.chr1:32745786C>T c.1302C>T c.(1300-1302)gtC>gtT p.V434V PAAD 1 32740348 32740348 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:32740348G>A c.116G>A c.(115-117)cGa>cAa p.R39Q PRAD 1 32745333 32745333 + Silent SNP G G A TCGA-XJ-A9DX-01A-11D-A377-08 TCGA-XJ-A9DX-10A-01D-A37A-08 g.chr1:32745333G>A c.1026G>A c.(1024-1026)ctG>ctA p.L342L READ 1 32741530 32741530 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:32741530C>T c.497C>T c.(496-498)tCg>tTg p.S166L SARC 1 32742050 32742050 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:32742050G>A c.744G>A c.(742-744)gtG>gtA p.V248V SARC 1 32742051 32742051 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:32742051G>A c.745G>A c.(745-747)Gag>Aag p.E249K SKCM 1 32739964 32739964 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:32739964G>A c.34G>A c.(34-36)Gac>Aac p.D12N SKCM 1 32740386 32740386 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr1:32740386G>A c.154G>A c.(154-156)Gaa>Aaa p.E52K SKCM 1 32740400 32740400 + Silent SNP G G T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 g.chr1:32740400G>T c.168G>T c.(166-168)ccG>ccT p.P56P SKCM 1 32742026 32742026 + Silent SNP T T G TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:32742026T>G c.720T>G c.(718-720)gtT>gtG p.V240V SKCM 1 32742265 32742265 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:32742265C>T c.842C>T c.(841-843)tCc>tTc p.S281F SKCM 1 32742299 32742299 + Missense_Mutation SNP G G C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr1:32742299G>C c.876G>C c.(874-876)atG>atC p.M292I SKCM 1 32742380 32742380 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr1:32742380G>A c.957G>A c.(955-957)atG>atA p.M319I SKCM 1 32745282 32745282 + Silent SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr1:32745282G>A c.975G>A c.(973-975)gtG>gtA p.V325V SKCM 1 32745514 32745514 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:32745514G>A c.1114G>A c.(1114-1116)Gtg>Atg p.V372M SKCM 1 32745524 32745524 + Missense_Mutation SNP C C T TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr1:32745524C>T c.1124C>T c.(1123-1125)aCc>aTc p.T375I SKCM 1 32745525 32745525 + Silent SNP C C T TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr1:32745525C>T c.1125C>T c.(1123-1125)acC>acT p.T375T SKCM 1 32745577 32745577 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:32745577G>A c.1177G>A c.(1177-1179)Gag>Aag p.E393K SKCM 1 32745578 32745578 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:32745578A>G c.1178A>G c.(1177-1179)gAg>gGg p.E393G SKCM 1 32745691 32745691 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:32745691C>T c.1207C>T c.(1207-1209)Ccc>Tcc p.P403S SKCM 1 32745777 32745777 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr1:32745777G>A c.1293G>A c.(1291-1293)acG>acA p.T431T SKCM 1 32745802 32745802 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:32745802C>T c.1318C>T c.(1318-1320)Cct>Tct p.P440S SKCM 1 32745809 32745809 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:32745809C>T c.1325C>T c.(1324-1326)cCa>cTa p.P442L SKCM 1 32751115 32751115 + Splice_Site SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:32751115G>A c.1328G>A c.(1327-1329)gGg>gAg p.G443E SKCM 1 32751132 32751132 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr1:32751132G>A c.1345G>A c.(1345-1347)Gtg>Atg p.V449M SKCM 1 32751184 32751184 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:32751184C>T c.1397C>T c.(1396-1398)cCa>cTa p.P466L SKCM 1 32751281 32751281 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:32751281C>T c.1494C>T c.(1492-1494)ttC>ttT p.F498F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 32713099 32713099 single base substitution C T upstream_gene_variant BLCA-US 1 32742252 32742252 single base substitution C A downstream_gene_variant BLCA-US 1 32742252 32742252 single base substitution C A exon_variant BLCA-US 1 32742252 32742252 single base substitution C A missense_variant Q226K 676C>A BLCA-US 1 32742252 32742252 single base substitution C A missense_variant Q277K 829C>A BLCA-US 1 32742252 32742252 single base substitution C A missense_variant Q284K 850C>A BOCA-FR 1 32717724 32717724 single base substitution G A intron_variant BOCA-FR 1 32739457 32739457 single base substitution C T intron_variant BOCA-FR 1 32739457 32739457 single base substitution C T upstream_gene_variant BRCA-EU 1 32712615 32712615 single base substitution G A upstream_gene_variant BRCA-EU 1 32713068 32713068 single base substitution G T upstream_gene_variant BRCA-EU 1 32713377 32713377 single base substitution G T upstream_gene_variant BRCA-EU 1 32714414 32714414 single base substitution C T upstream_gene_variant BRCA-EU 1 32716112 32716112 single base substitution C T upstream_gene_variant BRCA-EU 1 32716166 32716166 single base substitution A G upstream_gene_variant BRCA-EU 1 32720597 32720597 single base substitution A T intron_variant BRCA-EU 1 32722256 32722256 single base substitution A G intron_variant BRCA-EU 1 32722431 32722431 single base substitution G C intron_variant BRCA-EU 1 32722710 32722710 single base substitution G A intron_variant BRCA-EU 1 32726773 32726773 single base substitution C G intron_variant BRCA-EU 1 32727023 32727023 single base substitution C T intron_variant BRCA-EU 1 32727085 32727085 single base substitution A G intron_variant BRCA-EU 1 32727473 32727473 single base substitution G A intron_variant BRCA-EU 1 32727935 32727935 single base substitution C G intron_variant BRCA-EU 1 32729208 32729208 single base substitution C G intron_variant BRCA-EU 1 32729620 32729620 single base substitution C T intron_variant BRCA-EU 1 32730374 32730374 single base substitution C A intron_variant BRCA-EU 1 32730545 32730545 single base substitution C T intron_variant BRCA-EU 1 32731044 32731044 single base substitution C T intron_variant BRCA-EU 1 32731747 32731747 single base substitution G C intron_variant BRCA-EU 1 32731895 32731895 single base substitution C A intron_variant BRCA-EU 1 32733061 32733061 single base substitution G C intron_variant BRCA-EU 1 32734126 32734126 single base substitution A G intron_variant BRCA-EU 1 32735410 32735410 single base substitution C T intron_variant BRCA-EU 1 32735410 32735410 single base substitution C T upstream_gene_variant BRCA-EU 1 32737396 32737396 single base substitution G C intron_variant BRCA-EU 1 32737396 32737396 single base substitution G C upstream_gene_variant BRCA-EU 1 32737692 32737692 single base substitution C G intron_variant BRCA-EU 1 32737692 32737692 single base substitution C G upstream_gene_variant BRCA-EU 1 32738067 32738067 single base substitution T G intron_variant BRCA-EU 1 32738067 32738067 single base substitution T G upstream_gene_variant BRCA-EU 1 32739959 32739959 single base substitution A T exon_variant BRCA-EU 1 32739959 32739959 single base substitution A T missense_variant E10V 29A>T BRCA-EU 1 32739959 32739959 single base substitution A T missense_variant E54V 161A>T BRCA-EU 1 32739959 32739959 single base substitution A T upstream_gene_variant BRCA-EU 1 32740553 32740553 single base substitution G A exon_variant BRCA-EU 1 32740553 32740553 single base substitution G A intron_variant BRCA-EU 1 32740553 32740553 single base substitution G A synonymous_variant P107P 321G>A BRCA-EU 1 32740553 32740553 single base substitution G A synonymous_variant P151P 453G>A BRCA-EU 1 32740553 32740553 single base substitution G A upstream_gene_variant BRCA-EU 1 32741261 32741261 single base substitution G A downstream_gene_variant BRCA-EU 1 32741261 32741261 single base substitution G A exon_variant BRCA-EU 1 32741261 32741261 single base substitution G A missense_variant E157K 469G>A BRCA-EU 1 32741261 32741261 single base substitution G A missense_variant E201K 601G>A BRCA-EU 1 32741261 32741261 single base substitution G A missense_variant E215K 643G>A BRCA-EU 1 32741676 32741676 single base substitution G T downstream_gene_variant BRCA-EU 1 32741676 32741676 single base substitution G T intron_variant BRCA-EU 1 32742143 32742143 single base substitution G A downstream_gene_variant BRCA-EU 1 32742143 32742143 single base substitution G A intron_variant BRCA-EU 1 32742943 32742943 single base substitution C A downstream_gene_variant BRCA-EU 1 32742943 32742943 single base substitution C A intron_variant BRCA-EU 1 32744610 32744610 single base substitution C T downstream_gene_variant BRCA-EU 1 32744610 32744610 single base substitution C T intron_variant BRCA-EU 1 32745302 32745302 single base substitution C G downstream_gene_variant BRCA-EU 1 32745302 32745302 single base substitution C G exon_variant BRCA-EU 1 32745302 32745302 single base substitution C G stop_gained S281* 842C>G BRCA-EU 1 32745302 32745302 single base substitution C G stop_gained S332* 995C>G BRCA-EU 1 32745302 32745302 single base substitution C G stop_gained S339* 1016C>G BRCA-EU 1 32745302 32745302 single base substitution C G stop_gained S362* 1085C>G BRCA-EU 1 32745422 32745422 single base substitution G T downstream_gene_variant BRCA-EU 1 32745422 32745422 single base substitution G T exon_variant BRCA-EU 1 32745422 32745422 single base substitution G T intron_variant BRCA-EU 1 32745484 32745484 single base substitution C T downstream_gene_variant BRCA-EU 1 32745484 32745484 single base substitution C T exon_variant BRCA-EU 1 32745484 32745484 single base substitution C T missense_variant H311Y 931C>T BRCA-EU 1 32745484 32745484 single base substitution C T missense_variant H362Y 1084C>T BRCA-EU 1 32745484 32745484 single base substitution C T missense_variant H369Y 1105C>T BRCA-EU 1 32745484 32745484 single base substitution C T missense_variant H392Y 1174C>T BRCA-EU 1 32745493 32745493 single base substitution C G downstream_gene_variant BRCA-EU 1 32745493 32745493 single base substitution C G exon_variant BRCA-EU 1 32745493 32745493 single base substitution C G missense_variant L314V 940C>G BRCA-EU 1 32745493 32745493 single base substitution C G missense_variant L365V 1093C>G BRCA-EU 1 32745493 32745493 single base substitution C G missense_variant L372V 1114C>G BRCA-EU 1 32745493 32745493 single base substitution C G missense_variant L395V 1183C>G BRCA-EU 1 32745834 32745834 single base substitution G T downstream_gene_variant BRCA-EU 1 32745834 32745834 single base substitution G T intron_variant BRCA-EU 1 32746549 32746549 insertion of <=200bp - AATAAGAGAC downstream_gene_variant BRCA-EU 1 32746549 32746549 insertion of <=200bp - AATAAGAGAC intron_variant BRCA-EU 1 32746759 32746759 single base substitution G T downstream_gene_variant BRCA-EU 1 32746759 32746759 single base substitution G T intron_variant BRCA-EU 1 32747044 32747044 single base substitution G C downstream_gene_variant BRCA-EU 1 32747044 32747044 single base substitution G C intron_variant BRCA-EU 1 32747473 32747473 single base substitution G A downstream_gene_variant BRCA-EU 1 32747473 32747473 single base substitution G A intron_variant BRCA-EU 1 32747658 32747658 single base substitution G T downstream_gene_variant BRCA-EU 1 32747658 32747658 single base substitution G T intron_variant BRCA-EU 1 32748572 32748572 single base substitution A C downstream_gene_variant BRCA-EU 1 32748572 32748572 single base substitution A C intron_variant BRCA-EU 1 32748723 32748723 single base substitution C G downstream_gene_variant BRCA-EU 1 32748723 32748723 single base substitution C G intron_variant BRCA-EU 1 32749118 32749118 single base substitution G C downstream_gene_variant BRCA-EU 1 32749118 32749118 single base substitution G C intron_variant BRCA-EU 1 32749822 32749822 single base substitution C G downstream_gene_variant BRCA-EU 1 32749822 32749822 single base substitution C G intron_variant BRCA-EU 1 32750603 32750603 deletion of <=200bp T - intron_variant BRCA-EU 1 32750998 32750998 single base substitution G C intron_variant BRCA-EU 1 32753250 32753250 single base substitution C T downstream_gene_variant BRCA-EU 1 32753313 32753313 single base substitution C G downstream_gene_variant BRCA-EU 1 32753391 32753391 single base substitution C T downstream_gene_variant BRCA-EU 1 32753495 32753495 single base substitution C T downstream_gene_variant BRCA-EU 1 32753781 32753781 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 32753781 32753781 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 32754222 32754222 single base substitution C A downstream_gene_variant BRCA-EU 1 32754775 32754775 single base substitution C G downstream_gene_variant BRCA-EU 1 32754914 32754914 single base substitution C T downstream_gene_variant BRCA-EU 1 32755060 32755060 single base substitution C G downstream_gene_variant BRCA-EU 1 32755095 32755095 single base substitution C G downstream_gene_variant BRCA-EU 1 32755192 32755192 single base substitution C T downstream_gene_variant BRCA-EU 1 32755265 32755265 single base substitution C T downstream_gene_variant BRCA-EU 1 32755274 32755274 single base substitution C T downstream_gene_variant BRCA-EU 1 32756559 32756559 single base substitution G A downstream_gene_variant BRCA-EU 1 32756762 32756762 single base substitution C T downstream_gene_variant BRCA-FR 1 32727935 32727935 single base substitution C G intron_variant BRCA-FR 1 32740438 32740438 single base substitution G T exon_variant BRCA-FR 1 32740438 32740438 single base substitution G T intron_variant BRCA-FR 1 32740438 32740438 single base substitution G T missense_variant G113V 338G>T BRCA-FR 1 32740438 32740438 single base substitution G T missense_variant G69V 206G>T BRCA-FR 1 32740438 32740438 single base substitution G T upstream_gene_variant BRCA-FR 1 32741519 32741519 single base substitution G A downstream_gene_variant BRCA-FR 1 32741519 32741519 single base substitution G A exon_variant BRCA-FR 1 32741519 32741519 single base substitution G A synonymous_variant S162S 486G>A BRCA-FR 1 32741519 32741519 single base substitution G A synonymous_variant S206S 618G>A BRCA-FR 1 32741519 32741519 single base substitution G A synonymous_variant S220S 660G>A BRCA-FR 1 32749118 32749118 single base substitution G C downstream_gene_variant BRCA-FR 1 32749118 32749118 single base substitution G C intron_variant BRCA-FR 1 32755274 32755274 single base substitution C T downstream_gene_variant BRCA-UK 1 32737396 32737396 single base substitution G C intron_variant BRCA-UK 1 32737396 32737396 single base substitution G C upstream_gene_variant BRCA-UK 1 32756724 32756724 single base substitution G C downstream_gene_variant BRCA-US 1 32713099 32713099 single base substitution C T upstream_gene_variant BRCA-US 1 32713189 32713189 single base substitution G A upstream_gene_variant BRCA-US 1 32741215 32741215 single base substitution C T downstream_gene_variant BRCA-US 1 32741215 32741215 single base substitution C T exon_variant BRCA-US 1 32741215 32741215 single base substitution C T synonymous_variant L141L 423C>T BRCA-US 1 32741215 32741215 single base substitution C T synonymous_variant L185L 555C>T BRCA-US 1 32741215 32741215 single base substitution C T synonymous_variant L199L 597C>T BRCA-US 1 32741215 32741215 single base substitution C T upstream_gene_variant BRCA-US 1 32742227 32742227 single base substitution G A downstream_gene_variant BRCA-US 1 32742227 32742227 single base substitution G A exon_variant BRCA-US 1 32742227 32742227 single base substitution G A synonymous_variant T217T 651G>A BRCA-US 1 32742227 32742227 single base substitution G A synonymous_variant T268T 804G>A BRCA-US 1 32742227 32742227 single base substitution G A synonymous_variant T275T 825G>A BRCA-US 1 32745462 32745462 single base substitution C A downstream_gene_variant BRCA-US 1 32745462 32745462 single base substitution C A exon_variant BRCA-US 1 32745462 32745462 single base substitution C A missense_variant F303L 909C>A BRCA-US 1 32745462 32745462 single base substitution C A missense_variant F354L 1062C>A BRCA-US 1 32745462 32745462 single base substitution C A missense_variant F361L 1083C>A BRCA-US 1 32745462 32745462 single base substitution C A missense_variant F384L 1152C>A BRCA-US 1 32751206 32751206 single base substitution G A exon_variant BRCA-US 1 32751206 32751206 single base substitution G A missense_variant M473I 1419G>A BRCA-US 1 32751206 32751206 single base substitution G A missense_variant M480I 1440G>A BRCA-US 1 32751206 32751206 single base substitution G A missense_variant M503I 1509G>A BTCA-JP 1 32741563 32741563 single base substitution T G downstream_gene_variant BTCA-JP 1 32741563 32741563 single base substitution T G exon_variant BTCA-JP 1 32741563 32741563 single base substitution T G missense_variant V177G 530T>G BTCA-JP 1 32741563 32741563 single base substitution T G missense_variant V221G 662T>G BTCA-JP 1 32741563 32741563 single base substitution T G missense_variant V235G 704T>G BTCA-JP 1 32742054 32742054 single base substitution C G downstream_gene_variant BTCA-JP 1 32742054 32742054 single base substitution C G exon_variant BTCA-JP 1 32742054 32742054 single base substitution C G intron_variant BTCA-JP 1 32742054 32742054 single base substitution C G missense_variant R250G 748C>G BTCA-JP 1 32745456 32745456 single base substitution G A downstream_gene_variant BTCA-JP 1 32745456 32745456 single base substitution G A exon_variant BTCA-JP 1 32745456 32745456 single base substitution G A missense_variant M301I 903G>A BTCA-JP 1 32745456 32745456 single base substitution G A missense_variant M352I 1056G>A BTCA-JP 1 32745456 32745456 single base substitution G A missense_variant M359I 1077G>A BTCA-JP 1 32745456 32745456 single base substitution G A missense_variant M382I 1146G>A COAD-US 1 32713189 32713189 single base substitution G A upstream_gene_variant COAD-US 1 32714010 32714010 single base substitution G A upstream_gene_variant COAD-US 1 32742001 32742001 single base substitution C T downstream_gene_variant COAD-US 1 32742001 32742001 single base substitution C T exon_variant COAD-US 1 32742001 32742001 single base substitution C T intron_variant COAD-US 1 32742001 32742001 single base substitution C T missense_variant P232L 695C>T COAD-US 1 32742001 32742001 single base substitution C T missense_variant P276L 827C>T COCA-CN 1 32713140 32713140 single base substitution C T upstream_gene_variant COCA-CN 1 32741000 32741000 single base substitution G A downstream_gene_variant COCA-CN 1 32741000 32741000 single base substitution G A exon_variant COCA-CN 1 32741000 32741000 single base substitution G A synonymous_variant A119A 357G>A COCA-CN 1 32741000 32741000 single base substitution G A synonymous_variant A163A 489G>A COCA-CN 1 32741000 32741000 single base substitution G A synonymous_variant A177A 531G>A COCA-CN 1 32741000 32741000 single base substitution G A upstream_gene_variant COCA-CN 1 32745529 32745529 single base substitution A G downstream_gene_variant COCA-CN 1 32745529 32745529 single base substitution A G exon_variant COCA-CN 1 32745529 32745529 single base substitution A G missense_variant S377G 1129A>G COCA-CN 1 32745529 32745529 single base substitution A G missense_variant S384G 1150A>G COCA-CN 1 32745529 32745529 single base substitution A G missense_variant S407G 1219A>G COCA-CN 1 32751110 32751110 single base substitution C A intron_variant ESAD-UK 1 32713225 32713225 single base substitution G A upstream_gene_variant ESAD-UK 1 32714823 32714823 single base substitution G A upstream_gene_variant ESAD-UK 1 32718719 32718719 single base substitution C A intron_variant ESAD-UK 1 32720597 32720597 single base substitution A T intron_variant ESAD-UK 1 32721085 32721085 single base substitution C T intron_variant ESAD-UK 1 32722848 32722848 single base substitution T G intron_variant ESAD-UK 1 32723157 32723157 single base substitution C T intron_variant ESAD-UK 1 32725307 32725307 single base substitution A G intron_variant ESAD-UK 1 32726651 32726651 single base substitution T A intron_variant ESAD-UK 1 32727435 32727435 single base substitution T C intron_variant ESAD-UK 1 32727656 32727656 single base substitution T C intron_variant ESAD-UK 1 32728520 32728520 single base substitution C G intron_variant ESAD-UK 1 32730087 32730087 single base substitution G C intron_variant ESAD-UK 1 32731501 32731501 single base substitution C G intron_variant ESAD-UK 1 32731600 32731600 single base substitution A C intron_variant ESAD-UK 1 32731707 32731707 single base substitution C T intron_variant ESAD-UK 1 32735256 32735256 single base substitution A T intron_variant ESAD-UK 1 32735256 32735256 single base substitution A T upstream_gene_variant ESAD-UK 1 32735379 32735379 single base substitution C A intron_variant ESAD-UK 1 32735379 32735379 single base substitution C A upstream_gene_variant ESAD-UK 1 32736775 32736775 single base substitution G T intron_variant ESAD-UK 1 32736775 32736775 single base substitution G T upstream_gene_variant ESAD-UK 1 32742400 32742400 single base substitution C T downstream_gene_variant ESAD-UK 1 32742400 32742400 single base substitution C T exon_variant ESAD-UK 1 32742400 32742400 single base substitution C T intron_variant ESAD-UK 1 32745688 32745688 single base substitution T G downstream_gene_variant ESAD-UK 1 32745688 32745688 single base substitution T G exon_variant ESAD-UK 1 32745688 32745688 single base substitution T G missense_variant F402V 1204T>G ESAD-UK 1 32745688 32745688 single base substitution T G missense_variant F409V 1225T>G ESAD-UK 1 32745688 32745688 single base substitution T G missense_variant F432V 1294T>G ESAD-UK 1 32746714 32746714 single base substitution C T downstream_gene_variant ESAD-UK 1 32746714 32746714 single base substitution C T intron_variant ESAD-UK 1 32747195 32747195 single base substitution G T downstream_gene_variant ESAD-UK 1 32747195 32747195 single base substitution G T intron_variant ESAD-UK 1 32748013 32748013 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 32748013 32748013 deletion of <=200bp A - intron_variant ESAD-UK 1 32748785 32748785 single base substitution G A downstream_gene_variant ESAD-UK 1 32748785 32748785 single base substitution G A intron_variant ESAD-UK 1 32750886 32750886 single base substitution G C intron_variant ESAD-UK 1 32753053 32753053 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 32753488 32753488 single base substitution G A downstream_gene_variant ESAD-UK 1 32753498 32753498 single base substitution T A downstream_gene_variant ESAD-UK 1 32753645 32753645 single base substitution C T downstream_gene_variant ESAD-UK 1 32753684 32753684 single base substitution A C downstream_gene_variant ESAD-UK 1 32754591 32754591 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 32754797 32754797 single base substitution T A downstream_gene_variant ESAD-UK 1 32756601 32756601 single base substitution A C downstream_gene_variant GBM-US 1 32740011 32740011 single base substitution A T exon_variant GBM-US 1 32740011 32740011 single base substitution A T synonymous_variant I27I 81A>T GBM-US 1 32740011 32740011 single base substitution A T synonymous_variant I71I 213A>T GBM-US 1 32740011 32740011 single base substitution A T upstream_gene_variant GBM-US 1 32741519 32741519 single base substitution G A downstream_gene_variant GBM-US 1 32741519 32741519 single base substitution G A exon_variant GBM-US 1 32741519 32741519 single base substitution G A synonymous_variant S162S 486G>A GBM-US 1 32741519 32741519 single base substitution G A synonymous_variant S206S 618G>A GBM-US 1 32741519 32741519 single base substitution G A synonymous_variant S220S 660G>A KIRC-US 1 32713083 32713083 single base substitution G A upstream_gene_variant LAML-KR 1 32714814 32714814 single base substitution A T upstream_gene_variant LAML-KR 1 32733524 32733524 single base substitution A G intron_variant LAML-KR 1 32733533 32733533 single base substitution C T intron_variant LICA-CN 1 32713202 32713202 single base substitution C T upstream_gene_variant LICA-FR 1 32712879 32712879 single base substitution A T upstream_gene_variant LICA-FR 1 32713226 32713226 single base substitution G A upstream_gene_variant LICA-FR 1 32728470 32728470 deletion of <=200bp A - intron_variant LICA-FR 1 32740637 32740637 single base substitution C T downstream_gene_variant LICA-FR 1 32740637 32740637 single base substitution C T exon_variant LICA-FR 1 32740637 32740637 single base substitution C T synonymous_variant D121D 363C>T LICA-FR 1 32740637 32740637 single base substitution C T synonymous_variant D135D 405C>T LICA-FR 1 32740637 32740637 single base substitution C T synonymous_variant D77D 231C>T LICA-FR 1 32740637 32740637 single base substitution C T upstream_gene_variant LICA-FR 1 32751125 32751125 single base substitution C T exon_variant LICA-FR 1 32751125 32751125 single base substitution C T synonymous_variant N446N 1338C>T LICA-FR 1 32751125 32751125 single base substitution C T synonymous_variant N453N 1359C>T LICA-FR 1 32751125 32751125 single base substitution C T synonymous_variant N476N 1428C>T LIHC-US 1 32740006 32740006 single base substitution C G exon_variant LIHC-US 1 32740006 32740006 single base substitution C G missense_variant P26A 76C>G LIHC-US 1 32740006 32740006 single base substitution C G missense_variant P70A 208C>G LIHC-US 1 32740006 32740006 single base substitution C G upstream_gene_variant LIHC-US 1 32742349 32742349 single base substitution A T downstream_gene_variant LIHC-US 1 32742349 32742349 single base substitution A T exon_variant LIHC-US 1 32742349 32742349 single base substitution A T missense_variant Q258L 773A>T LIHC-US 1 32742349 32742349 single base substitution A T missense_variant Q309L 926A>T LIHC-US 1 32742349 32742349 single base substitution A T missense_variant Q316L 947A>T LINC-JP 1 32715940 32715940 deletion of <=200bp C - upstream_gene_variant LINC-JP 1 32730846 32730846 single base substitution A G intron_variant LINC-JP 1 32740268 32740268 deletion of <=200bp G - intron_variant LINC-JP 1 32740268 32740268 deletion of <=200bp G - upstream_gene_variant LINC-JP 1 32742046 32742046 single base substitution T A downstream_gene_variant LINC-JP 1 32742046 32742046 single base substitution T A exon_variant LINC-JP 1 32742046 32742046 single base substitution T A intron_variant LINC-JP 1 32742046 32742046 single base substitution T A missense_variant L247Q 740T>A LINC-JP 1 32756663 32756663 single base substitution G T downstream_gene_variant LIRI-JP 1 32713892 32713892 insertion of <=200bp - G upstream_gene_variant LIRI-JP 1 32714633 32714633 single base substitution T A upstream_gene_variant LIRI-JP 1 32715468 32715468 single base substitution A G upstream_gene_variant LIRI-JP 1 32719320 32719320 single base substitution T C intron_variant LIRI-JP 1 32719729 32719729 single base substitution A G intron_variant LIRI-JP 1 32720483 32720483 single base substitution C T intron_variant LIRI-JP 1 32720964 32720964 single base substitution A C intron_variant LIRI-JP 1 32722443 32722443 single base substitution C T intron_variant LIRI-JP 1 32728148 32728148 single base substitution T C intron_variant LIRI-JP 1 32728213 32728213 single base substitution C T intron_variant LIRI-JP 1 32729493 32729493 single base substitution G A intron_variant LIRI-JP 1 32731188 32731188 single base substitution C A intron_variant LIRI-JP 1 32731434 32731434 single base substitution T C intron_variant LIRI-JP 1 32731460 32731460 single base substitution G A intron_variant LIRI-JP 1 32732473 32732473 single base substitution C A intron_variant LIRI-JP 1 32733025 32733025 single base substitution A G intron_variant LIRI-JP 1 32735709 32735709 single base substitution C T intron_variant LIRI-JP 1 32735709 32735709 single base substitution C T upstream_gene_variant LIRI-JP 1 32736817 32736817 single base substitution T A intron_variant LIRI-JP 1 32736817 32736817 single base substitution T A upstream_gene_variant LIRI-JP 1 32736887 32736887 single base substitution A G intron_variant LIRI-JP 1 32736887 32736887 single base substitution A G upstream_gene_variant LIRI-JP 1 32737602 32737602 single base substitution T C intron_variant LIRI-JP 1 32737602 32737602 single base substitution T C upstream_gene_variant LIRI-JP 1 32737664 32737664 single base substitution T C intron_variant LIRI-JP 1 32737664 32737664 single base substitution T C upstream_gene_variant LIRI-JP 1 32737752 32737752 single base substitution G A intron_variant LIRI-JP 1 32737752 32737752 single base substitution G A upstream_gene_variant LIRI-JP 1 32743397 32743397 single base substitution C A downstream_gene_variant LIRI-JP 1 32743397 32743397 single base substitution C A intron_variant LIRI-JP 1 32745952 32745952 single base substitution C G downstream_gene_variant LIRI-JP 1 32745952 32745952 single base substitution C G intron_variant LIRI-JP 1 32746370 32746370 single base substitution G A downstream_gene_variant LIRI-JP 1 32746370 32746370 single base substitution G A intron_variant LIRI-JP 1 32746822 32746822 single base substitution T C downstream_gene_variant LIRI-JP 1 32746822 32746822 single base substitution T C intron_variant LIRI-JP 1 32747218 32747218 single base substitution A G downstream_gene_variant LIRI-JP 1 32747218 32747218 single base substitution A G intron_variant LIRI-JP 1 32749504 32749504 single base substitution C A downstream_gene_variant LIRI-JP 1 32749504 32749504 single base substitution C A intron_variant LIRI-JP 1 32753820 32753820 single base substitution C A downstream_gene_variant LIRI-JP 1 32755535 32755535 single base substitution G A downstream_gene_variant LUSC-KR 1 32712734 32712734 single base substitution G T upstream_gene_variant LUSC-KR 1 32714823 32714823 single base substitution G A upstream_gene_variant LUSC-KR 1 32722288 32722288 single base substitution C T intron_variant LUSC-KR 1 32722842 32722842 single base substitution T C intron_variant LUSC-KR 1 32727298 32727298 single base substitution G C intron_variant LUSC-KR 1 32728305 32728305 single base substitution G T intron_variant LUSC-KR 1 32730518 32730518 single base substitution A G intron_variant LUSC-KR 1 32731021 32731021 single base substitution C A intron_variant LUSC-KR 1 32731707 32731707 single base substitution C T intron_variant LUSC-KR 1 32737475 32737475 single base substitution C T intron_variant LUSC-KR 1 32737475 32737475 single base substitution C T upstream_gene_variant LUSC-KR 1 32739804 32739804 single base substitution G A 5_prime_UTR_variant LUSC-KR 1 32739804 32739804 single base substitution G A intron_variant LUSC-KR 1 32739804 32739804 single base substitution G A synonymous_variant G2G 6G>A LUSC-KR 1 32739804 32739804 single base substitution G A upstream_gene_variant LUSC-KR 1 32741426 32741426 single base substitution G A downstream_gene_variant LUSC-KR 1 32741426 32741426 single base substitution G A intron_variant LUSC-KR 1 32742784 32742784 single base substitution T C downstream_gene_variant LUSC-KR 1 32742784 32742784 single base substitution T C intron_variant LUSC-KR 1 32744726 32744726 single base substitution G C downstream_gene_variant LUSC-KR 1 32744726 32744726 single base substitution G C intron_variant LUSC-KR 1 32747060 32747060 single base substitution C A downstream_gene_variant LUSC-KR 1 32747060 32747060 single base substitution C A intron_variant LUSC-KR 1 32755660 32755660 single base substitution A T downstream_gene_variant LUSC-US 1 32713219 32713219 single base substitution G T upstream_gene_variant LUSC-US 1 32740636 32740636 single base substitution A T downstream_gene_variant LUSC-US 1 32740636 32740636 single base substitution A T exon_variant LUSC-US 1 32740636 32740636 single base substitution A T missense_variant D121V 362A>T LUSC-US 1 32740636 32740636 single base substitution A T missense_variant D135V 404A>T LUSC-US 1 32740636 32740636 single base substitution A T missense_variant D77V 230A>T LUSC-US 1 32740636 32740636 single base substitution A T upstream_gene_variant LUSC-US 1 32742069 32742069 single base substitution C G downstream_gene_variant LUSC-US 1 32742069 32742069 single base substitution C G exon_variant LUSC-US 1 32742069 32742069 single base substitution C G intron_variant LUSC-US 1 32742069 32742069 single base substitution C G missense_variant Q255E 763C>G LUSC-US 1 32742336 32742336 single base substitution G A downstream_gene_variant LUSC-US 1 32742336 32742336 single base substitution G A exon_variant LUSC-US 1 32742336 32742336 single base substitution G A missense_variant A254T 760G>A LUSC-US 1 32742336 32742336 single base substitution G A missense_variant A305T 913G>A LUSC-US 1 32742336 32742336 single base substitution G A missense_variant A312T 934G>A MALY-DE 1 32717472 32717472 single base substitution C A intron_variant MALY-DE 1 32718817 32718817 single base substitution T G intron_variant MALY-DE 1 32719060 32719060 insertion of <=200bp - T intron_variant MALY-DE 1 32722194 32722194 insertion of <=200bp - T intron_variant MALY-DE 1 32730114 32730114 single base substitution T A intron_variant MALY-DE 1 32730317 32730317 single base substitution T G intron_variant MALY-DE 1 32730381 32730381 single base substitution T A intron_variant MALY-DE 1 32732700 32732700 single base substitution A C intron_variant MALY-DE 1 32734277 32734278 deletion of <=200bp GG - intron_variant MALY-DE 1 32735444 32735444 single base substitution T A intron_variant MALY-DE 1 32735444 32735444 single base substitution T A upstream_gene_variant MALY-DE 1 32749858 32749858 single base substitution T G downstream_gene_variant MALY-DE 1 32749858 32749858 single base substitution T G intron_variant MELA-AU 1 32712741 32712741 single base substitution G A upstream_gene_variant MELA-AU 1 32713272 32713272 single base substitution C T upstream_gene_variant MELA-AU 1 32713807 32713807 single base substitution G A upstream_gene_variant MELA-AU 1 32713958 32713958 single base substitution C T upstream_gene_variant MELA-AU 1 32714313 32714313 single base substitution G A upstream_gene_variant MELA-AU 1 32714917 32714917 single base substitution C T upstream_gene_variant MELA-AU 1 32714990 32714990 single base substitution T C upstream_gene_variant MELA-AU 1 32715007 32715007 single base substitution A G upstream_gene_variant MELA-AU 1 32715129 32715129 single base substitution C T upstream_gene_variant MELA-AU 1 32715663 32715663 single base substitution C T upstream_gene_variant MELA-AU 1 32715704 32715704 single base substitution C T upstream_gene_variant MELA-AU 1 32715892 32715892 single base substitution C T upstream_gene_variant MELA-AU 1 32716109 32716109 single base substitution C T upstream_gene_variant MELA-AU 1 32716200 32716200 single base substitution T C upstream_gene_variant MELA-AU 1 32716384 32716384 single base substitution G A upstream_gene_variant MELA-AU 1 32716652 32716652 single base substitution C T upstream_gene_variant MELA-AU 1 32717489 32717489 single base substitution C T intron_variant MELA-AU 1 32717673 32717673 single base substitution G A intron_variant MELA-AU 1 32717808 32717808 single base substitution G A intron_variant MELA-AU 1 32717856 32717856 single base substitution C T intron_variant MELA-AU 1 32717860 32717860 single base substitution C T intron_variant MELA-AU 1 32717873 32717873 single base substitution C T intron_variant MELA-AU 1 32717938 32717938 single base substitution G A intron_variant MELA-AU 1 32718240 32718240 single base substitution G A intron_variant MELA-AU 1 32718479 32718479 single base substitution G A intron_variant MELA-AU 1 32718587 32718587 single base substitution C G intron_variant MELA-AU 1 32718605 32718605 single base substitution G C intron_variant MELA-AU 1 32719039 32719039 single base substitution C T intron_variant MELA-AU 1 32719134 32719134 single base substitution C T intron_variant MELA-AU 1 32719212 32719212 single base substitution G A intron_variant MELA-AU 1 32719245 32719245 single base substitution G A intron_variant MELA-AU 1 32719247 32719247 single base substitution G A intron_variant MELA-AU 1 32719250 32719250 single base substitution G A intron_variant MELA-AU 1 32719261 32719261 single base substitution C T intron_variant MELA-AU 1 32719262 32719262 single base substitution C T intron_variant MELA-AU 1 32719278 32719278 single base substitution C A intron_variant MELA-AU 1 32719778 32719778 single base substitution C T intron_variant MELA-AU 1 32719984 32719984 single base substitution G A intron_variant MELA-AU 1 32719985 32719985 single base substitution G A intron_variant MELA-AU 1 32720013 32720013 single base substitution C T intron_variant MELA-AU 1 32720198 32720198 single base substitution C T intron_variant MELA-AU 1 32720341 32720341 single base substitution G A intron_variant MELA-AU 1 32720485 32720485 single base substitution C T intron_variant MELA-AU 1 32720935 32720935 single base substitution A G intron_variant MELA-AU 1 32721065 32721065 single base substitution C T intron_variant MELA-AU 1 32721462 32721462 single base substitution G A intron_variant MELA-AU 1 32721469 32721469 single base substitution C T intron_variant MELA-AU 1 32722153 32722153 single base substitution C T intron_variant MELA-AU 1 32722376 32722376 single base substitution C T intron_variant MELA-AU 1 32722518 32722518 single base substitution C T intron_variant MELA-AU 1 32722558 32722558 single base substitution C T intron_variant MELA-AU 1 32722608 32722608 single base substitution G A intron_variant MELA-AU 1 32722905 32722905 single base substitution A G intron_variant MELA-AU 1 32722911 32722911 single base substitution C T intron_variant MELA-AU 1 32723214 32723214 single base substitution G A intron_variant MELA-AU 1 32723985 32723985 single base substitution C T intron_variant MELA-AU 1 32724219 32724219 single base substitution C T intron_variant MELA-AU 1 32724479 32724479 single base substitution C T intron_variant MELA-AU 1 32725000 32725000 single base substitution C T intron_variant MELA-AU 1 32725113 32725113 single base substitution C T intron_variant MELA-AU 1 32725197 32725197 single base substitution G A intron_variant MELA-AU 1 32725711 32725711 single base substitution T A intron_variant MELA-AU 1 32726457 32726457 single base substitution G A intron_variant MELA-AU 1 32726464 32726464 single base substitution C T intron_variant MELA-AU 1 32726773 32726773 single base substitution C T intron_variant MELA-AU 1 32727334 32727334 single base substitution C T intron_variant MELA-AU 1 32727523 32727523 single base substitution C T intron_variant MELA-AU 1 32727585 32727585 single base substitution C T intron_variant MELA-AU 1 32727786 32727786 single base substitution C T intron_variant MELA-AU 1 32727824 32727824 single base substitution G A intron_variant MELA-AU 1 32728087 32728087 single base substitution G A intron_variant MELA-AU 1 32728785 32728785 single base substitution G A intron_variant MELA-AU 1 32728814 32728814 single base substitution G A intron_variant MELA-AU 1 32728973 32728973 single base substitution G A intron_variant MELA-AU 1 32729730 32729730 single base substitution A T intron_variant MELA-AU 1 32729937 32729937 single base substitution G A intron_variant MELA-AU 1 32730183 32730183 single base substitution C T intron_variant MELA-AU 1 32730884 32730884 single base substitution C T intron_variant MELA-AU 1 32731104 32731104 single base substitution G A intron_variant MELA-AU 1 32731367 32731367 single base substitution T A intron_variant MELA-AU 1 32731450 32731450 single base substitution C T intron_variant MELA-AU 1 32731873 32731873 single base substitution C T intron_variant MELA-AU 1 32731889 32731889 single base substitution C T intron_variant MELA-AU 1 32732738 32732738 single base substitution G A intron_variant MELA-AU 1 32732923 32732924 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 32733444 32733444 single base substitution G A intron_variant MELA-AU 1 32733623 32733623 single base substitution A T intron_variant MELA-AU 1 32733678 32733678 single base substitution C T intron_variant MELA-AU 1 32733702 32733702 single base substitution G A intron_variant MELA-AU 1 32733749 32733749 single base substitution C T intron_variant MELA-AU 1 32734641 32734641 single base substitution G A intron_variant MELA-AU 1 32734823 32734823 single base substitution A G intron_variant MELA-AU 1 32734823 32734823 single base substitution A G upstream_gene_variant MELA-AU 1 32734993 32734993 single base substitution C T intron_variant MELA-AU 1 32734993 32734993 single base substitution C T upstream_gene_variant MELA-AU 1 32735158 32735158 single base substitution C T intron_variant MELA-AU 1 32735158 32735158 single base substitution C T upstream_gene_variant MELA-AU 1 32735290 32735291 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 32735290 32735291 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 32735318 32735318 single base substitution C T intron_variant MELA-AU 1 32735318 32735318 single base substitution C T upstream_gene_variant MELA-AU 1 32735328 32735328 single base substitution C T intron_variant MELA-AU 1 32735328 32735328 single base substitution C T upstream_gene_variant MELA-AU 1 32735348 32735348 single base substitution A T intron_variant MELA-AU 1 32735348 32735348 single base substitution A T upstream_gene_variant MELA-AU 1 32735402 32735402 single base substitution C T intron_variant MELA-AU 1 32735402 32735402 single base substitution C T upstream_gene_variant MELA-AU 1 32735410 32735410 single base substitution C T intron_variant MELA-AU 1 32735410 32735410 single base substitution C T upstream_gene_variant MELA-AU 1 32735938 32735938 single base substitution C T intron_variant MELA-AU 1 32735938 32735938 single base substitution C T upstream_gene_variant MELA-AU 1 32736071 32736071 single base substitution C T intron_variant MELA-AU 1 32736071 32736071 single base substitution C T upstream_gene_variant MELA-AU 1 32736186 32736186 single base substitution G A intron_variant MELA-AU 1 32736186 32736186 single base substitution G A upstream_gene_variant MELA-AU 1 32736216 32736216 single base substitution G A intron_variant MELA-AU 1 32736216 32736216 single base substitution G A upstream_gene_variant MELA-AU 1 32736251 32736251 single base substitution C T intron_variant MELA-AU 1 32736251 32736251 single base substitution C T upstream_gene_variant MELA-AU 1 32736276 32736276 single base substitution G A intron_variant MELA-AU 1 32736276 32736276 single base substitution G A upstream_gene_variant MELA-AU 1 32736280 32736280 single base substitution C T intron_variant MELA-AU 1 32736280 32736280 single base substitution C T upstream_gene_variant MELA-AU 1 32736442 32736442 single base substitution T A intron_variant MELA-AU 1 32736442 32736442 single base substitution T A upstream_gene_variant MELA-AU 1 32736636 32736636 single base substitution C T intron_variant MELA-AU 1 32736636 32736636 single base substitution C T upstream_gene_variant MELA-AU 1 32737264 32737264 single base substitution C T intron_variant MELA-AU 1 32737264 32737264 single base substitution C T upstream_gene_variant MELA-AU 1 32737319 32737319 single base substitution C T intron_variant MELA-AU 1 32737319 32737319 single base substitution C T upstream_gene_variant MELA-AU 1 32737476 32737476 single base substitution C T intron_variant MELA-AU 1 32737476 32737476 single base substitution C T upstream_gene_variant MELA-AU 1 32737704 32737704 single base substitution G A intron_variant MELA-AU 1 32737704 32737704 single base substitution G A upstream_gene_variant MELA-AU 1 32737767 32737767 single base substitution C T intron_variant MELA-AU 1 32737767 32737767 single base substitution C T upstream_gene_variant MELA-AU 1 32737828 32737828 single base substitution G A intron_variant MELA-AU 1 32737828 32737828 single base substitution G A upstream_gene_variant MELA-AU 1 32737912 32737912 single base substitution G A intron_variant MELA-AU 1 32737912 32737912 single base substitution G A upstream_gene_variant MELA-AU 1 32737966 32737966 single base substitution G A intron_variant MELA-AU 1 32737966 32737966 single base substitution G A upstream_gene_variant MELA-AU 1 32737982 32737982 single base substitution G A intron_variant MELA-AU 1 32737982 32737982 single base substitution G A upstream_gene_variant MELA-AU 1 32738094 32738094 single base substitution G A intron_variant MELA-AU 1 32738094 32738094 single base substitution G A upstream_gene_variant MELA-AU 1 32738190 32738190 single base substitution G A intron_variant MELA-AU 1 32738190 32738190 single base substitution G A upstream_gene_variant MELA-AU 1 32738546 32738546 single base substitution G A intron_variant MELA-AU 1 32738546 32738546 single base substitution G A upstream_gene_variant MELA-AU 1 32739402 32739402 single base substitution G A intron_variant MELA-AU 1 32739402 32739402 single base substitution G A upstream_gene_variant MELA-AU 1 32739550 32739550 single base substitution G A intron_variant MELA-AU 1 32739550 32739550 single base substitution G A upstream_gene_variant MELA-AU 1 32739676 32739676 single base substitution C T intron_variant MELA-AU 1 32739676 32739676 single base substitution C T upstream_gene_variant MELA-AU 1 32739893 32739893 single base substitution G A intron_variant MELA-AU 1 32739893 32739893 single base substitution G A missense_variant G32E 95G>A MELA-AU 1 32739893 32739893 single base substitution G A upstream_gene_variant MELA-AU 1 32739914 32739914 single base substitution C T 5_prime_UTR_variant MELA-AU 1 32739914 32739914 single base substitution C T intron_variant MELA-AU 1 32739914 32739914 single base substitution C T missense_variant S39F 116C>T MELA-AU 1 32739914 32739914 single base substitution C T upstream_gene_variant MELA-AU 1 32739927 32739927 single base substitution G A 5_prime_UTR_variant MELA-AU 1 32739927 32739927 single base substitution G A splice_region_variant MELA-AU 1 32739927 32739927 single base substitution G A synonymous_variant G43G 129G>A MELA-AU 1 32739927 32739927 single base substitution G A upstream_gene_variant MELA-AU 1 32739981 32739981 single base substitution C T exon_variant MELA-AU 1 32739981 32739981 single base substitution C T synonymous_variant I17I 51C>T MELA-AU 1 32739981 32739981 single base substitution C T synonymous_variant I61I 183C>T MELA-AU 1 32739981 32739981 single base substitution C T upstream_gene_variant MELA-AU 1 32740097 32740097 single base substitution G A intron_variant MELA-AU 1 32740097 32740097 single base substitution G A upstream_gene_variant MELA-AU 1 32740143 32740143 single base substitution C T intron_variant MELA-AU 1 32740143 32740143 single base substitution C T upstream_gene_variant MELA-AU 1 32740144 32740144 single base substitution C T intron_variant MELA-AU 1 32740144 32740144 single base substitution C T upstream_gene_variant MELA-AU 1 32740161 32740161 single base substitution G A intron_variant MELA-AU 1 32740161 32740161 single base substitution G A upstream_gene_variant MELA-AU 1 32740343 32740343 single base substitution C T exon_variant MELA-AU 1 32740343 32740343 single base substitution C T synonymous_variant L37L 111C>T MELA-AU 1 32740343 32740343 single base substitution C T synonymous_variant L81L 243C>T MELA-AU 1 32740343 32740343 single base substitution C T upstream_gene_variant MELA-AU 1 32740463 32740463 single base substitution C T exon_variant MELA-AU 1 32740463 32740463 single base substitution C T intron_variant MELA-AU 1 32740463 32740463 single base substitution C T synonymous_variant S121S 363C>T MELA-AU 1 32740463 32740463 single base substitution C T synonymous_variant S77S 231C>T MELA-AU 1 32740463 32740463 single base substitution C T upstream_gene_variant MELA-AU 1 32740503 32740503 single base substitution C T exon_variant MELA-AU 1 32740503 32740503 single base substitution C T intron_variant MELA-AU 1 32740503 32740503 single base substitution C T missense_variant P135S 403C>T MELA-AU 1 32740503 32740503 single base substitution C T missense_variant P91S 271C>T MELA-AU 1 32740503 32740503 single base substitution C T upstream_gene_variant MELA-AU 1 32740526 32740526 single base substitution C T exon_variant MELA-AU 1 32740526 32740526 single base substitution C T intron_variant MELA-AU 1 32740526 32740526 single base substitution C T synonymous_variant P142P 426C>T MELA-AU 1 32740526 32740526 single base substitution C T synonymous_variant P98P 294C>T MELA-AU 1 32740526 32740526 single base substitution C T upstream_gene_variant MELA-AU 1 32740539 32740539 single base substitution C T exon_variant MELA-AU 1 32740539 32740539 single base substitution C T intron_variant MELA-AU 1 32740539 32740539 single base substitution C T missense_variant P103S 307C>T MELA-AU 1 32740539 32740539 single base substitution C T missense_variant P147S 439C>T MELA-AU 1 32740539 32740539 single base substitution C T upstream_gene_variant MELA-AU 1 32740667 32740667 single base substitution G A downstream_gene_variant MELA-AU 1 32740667 32740667 single base substitution G A exon_variant MELA-AU 1 32740667 32740667 single base substitution G A synonymous_variant Q131Q 393G>A MELA-AU 1 32740667 32740667 single base substitution G A synonymous_variant Q145Q 435G>A MELA-AU 1 32740667 32740667 single base substitution G A synonymous_variant Q87Q 261G>A MELA-AU 1 32740667 32740667 single base substitution G A upstream_gene_variant MELA-AU 1 32740691 32740691 single base substitution C T downstream_gene_variant MELA-AU 1 32740691 32740691 single base substitution C T exon_variant MELA-AU 1 32740691 32740691 single base substitution C T splice_region_variant MELA-AU 1 32740691 32740691 single base substitution C T upstream_gene_variant MELA-AU 1 32740801 32740801 single base substitution C T downstream_gene_variant MELA-AU 1 32740801 32740801 single base substitution C T exon_variant MELA-AU 1 32740801 32740801 single base substitution C T intron_variant MELA-AU 1 32740801 32740801 single base substitution C T upstream_gene_variant MELA-AU 1 32740867 32740867 single base substitution G A downstream_gene_variant MELA-AU 1 32740867 32740867 single base substitution G A exon_variant MELA-AU 1 32740867 32740867 single base substitution G A intron_variant MELA-AU 1 32740867 32740867 single base substitution G A upstream_gene_variant MELA-AU 1 32740891 32740891 single base substitution C T downstream_gene_variant MELA-AU 1 32740891 32740891 single base substitution C T exon_variant MELA-AU 1 32740891 32740891 single base substitution C T intron_variant MELA-AU 1 32740891 32740891 single base substitution C T upstream_gene_variant MELA-AU 1 32741071 32741071 single base substitution G A downstream_gene_variant MELA-AU 1 32741071 32741071 single base substitution G A intron_variant MELA-AU 1 32741071 32741071 single base substitution G A upstream_gene_variant MELA-AU 1 32741118 32741118 single base substitution G A downstream_gene_variant MELA-AU 1 32741118 32741118 single base substitution G A intron_variant MELA-AU 1 32741118 32741118 single base substitution G A upstream_gene_variant MELA-AU 1 32741120 32741120 single base substitution G A downstream_gene_variant MELA-AU 1 32741120 32741120 single base substitution G A intron_variant MELA-AU 1 32741120 32741120 single base substitution G A upstream_gene_variant MELA-AU 1 32741561 32741561 single base substitution G A downstream_gene_variant MELA-AU 1 32741561 32741561 single base substitution G A exon_variant MELA-AU 1 32741561 32741561 single base substitution G A synonymous_variant E176E 528G>A MELA-AU 1 32741561 32741561 single base substitution G A synonymous_variant E220E 660G>A MELA-AU 1 32741561 32741561 single base substitution G A synonymous_variant E234E 702G>A MELA-AU 1 32741847 32741847 single base substitution C T downstream_gene_variant MELA-AU 1 32741847 32741847 single base substitution C T intron_variant MELA-AU 1 32741963 32741963 single base substitution G A downstream_gene_variant MELA-AU 1 32741963 32741963 single base substitution G A exon_variant MELA-AU 1 32741963 32741963 single base substitution G A intron_variant MELA-AU 1 32741963 32741963 single base substitution G A synonymous_variant R219R 657G>A MELA-AU 1 32741963 32741963 single base substitution G A synonymous_variant R263R 789G>A MELA-AU 1 32742131 32742131 single base substitution G A downstream_gene_variant MELA-AU 1 32742131 32742131 single base substitution G A intron_variant MELA-AU 1 32742207 32742207 single base substitution G A downstream_gene_variant MELA-AU 1 32742207 32742207 single base substitution G A splice_acceptor_variant MELA-AU 1 32742265 32742265 single base substitution C T downstream_gene_variant MELA-AU 1 32742265 32742265 single base substitution C T exon_variant MELA-AU 1 32742265 32742265 single base substitution C T missense_variant S230F 689C>T MELA-AU 1 32742265 32742265 single base substitution C T missense_variant S281F 842C>T MELA-AU 1 32742265 32742265 single base substitution C T missense_variant S288F 863C>T MELA-AU 1 32742413 32742413 single base substitution A G downstream_gene_variant MELA-AU 1 32742413 32742413 single base substitution A G exon_variant MELA-AU 1 32742413 32742413 single base substitution A G intron_variant MELA-AU 1 32742562 32742562 single base substitution C T downstream_gene_variant MELA-AU 1 32742562 32742562 single base substitution C T exon_variant MELA-AU 1 32742562 32742562 single base substitution C T intron_variant MELA-AU 1 32742771 32742771 single base substitution C T downstream_gene_variant MELA-AU 1 32742771 32742771 single base substitution C T exon_variant MELA-AU 1 32742771 32742771 single base substitution C T intron_variant MELA-AU 1 32742870 32742870 single base substitution C T downstream_gene_variant MELA-AU 1 32742870 32742870 single base substitution C T intron_variant MELA-AU 1 32743020 32743020 single base substitution C T downstream_gene_variant MELA-AU 1 32743020 32743020 single base substitution C T intron_variant MELA-AU 1 32743122 32743122 single base substitution C T downstream_gene_variant MELA-AU 1 32743122 32743122 single base substitution C T intron_variant MELA-AU 1 32743155 32743155 single base substitution C T downstream_gene_variant MELA-AU 1 32743155 32743155 single base substitution C T intron_variant MELA-AU 1 32743166 32743166 single base substitution G A downstream_gene_variant MELA-AU 1 32743166 32743166 single base substitution G A intron_variant MELA-AU 1 32744031 32744031 single base substitution C T downstream_gene_variant MELA-AU 1 32744031 32744031 single base substitution C T intron_variant MELA-AU 1 32744136 32744136 single base substitution C T downstream_gene_variant MELA-AU 1 32744136 32744136 single base substitution C T intron_variant MELA-AU 1 32744738 32744738 single base substitution G A downstream_gene_variant MELA-AU 1 32744738 32744738 single base substitution G A intron_variant MELA-AU 1 32744801 32744801 single base substitution C T downstream_gene_variant MELA-AU 1 32744801 32744801 single base substitution C T intron_variant MELA-AU 1 32745166 32745166 single base substitution C T downstream_gene_variant MELA-AU 1 32745166 32745166 single base substitution C T intron_variant MELA-AU 1 32745267 32745267 single base substitution C T downstream_gene_variant MELA-AU 1 32745267 32745267 single base substitution C T splice_region_variant MELA-AU 1 32745267 32745267 single base substitution C T synonymous_variant P350P 1050C>T MELA-AU 1 32745339 32745339 single base substitution G A downstream_gene_variant MELA-AU 1 32745339 32745339 single base substitution G A exon_variant MELA-AU 1 32745339 32745339 single base substitution G A missense_variant M293I 879G>A MELA-AU 1 32745339 32745339 single base substitution G A missense_variant M344I 1032G>A MELA-AU 1 32745339 32745339 single base substitution G A missense_variant M351I 1053G>A MELA-AU 1 32745339 32745339 single base substitution G A missense_variant M374I 1122G>A MELA-AU 1 32745361 32745361 single base substitution G A downstream_gene_variant MELA-AU 1 32745361 32745361 single base substitution G A exon_variant MELA-AU 1 32745361 32745361 single base substitution G A intron_variant MELA-AU 1 32745405 32745405 single base substitution T C downstream_gene_variant MELA-AU 1 32745405 32745405 single base substitution T C exon_variant MELA-AU 1 32745405 32745405 single base substitution T C intron_variant MELA-AU 1 32745633 32745633 single base substitution G A downstream_gene_variant MELA-AU 1 32745633 32745633 single base substitution G A intron_variant MELA-AU 1 32745765 32745765 single base substitution G A downstream_gene_variant MELA-AU 1 32745765 32745765 single base substitution G A exon_variant MELA-AU 1 32745765 32745765 single base substitution G A synonymous_variant G427G 1281G>A MELA-AU 1 32745765 32745765 single base substitution G A synonymous_variant G434G 1302G>A MELA-AU 1 32745765 32745765 single base substitution G A synonymous_variant G457G 1371G>A MELA-AU 1 32745802 32745802 single base substitution C T downstream_gene_variant MELA-AU 1 32745802 32745802 single base substitution C T exon_variant MELA-AU 1 32745802 32745802 single base substitution C T missense_variant P440S 1318C>T MELA-AU 1 32745802 32745802 single base substitution C T missense_variant P447S 1339C>T MELA-AU 1 32745802 32745802 single base substitution C T missense_variant P470S 1408C>T MELA-AU 1 32745927 32745927 single base substitution C T downstream_gene_variant MELA-AU 1 32745927 32745927 single base substitution C T intron_variant MELA-AU 1 32746389 32746389 single base substitution G A downstream_gene_variant MELA-AU 1 32746389 32746389 single base substitution G A intron_variant MELA-AU 1 32746641 32746641 single base substitution G A downstream_gene_variant MELA-AU 1 32746641 32746641 single base substitution G A intron_variant MELA-AU 1 32746881 32746881 single base substitution A C downstream_gene_variant MELA-AU 1 32746881 32746881 single base substitution A C intron_variant MELA-AU 1 32746988 32746988 single base substitution G A downstream_gene_variant MELA-AU 1 32746988 32746988 single base substitution G A intron_variant MELA-AU 1 32747256 32747256 single base substitution G A downstream_gene_variant MELA-AU 1 32747256 32747256 single base substitution G A intron_variant MELA-AU 1 32747261 32747261 single base substitution T A downstream_gene_variant MELA-AU 1 32747261 32747261 single base substitution T A intron_variant MELA-AU 1 32747323 32747323 single base substitution C G downstream_gene_variant MELA-AU 1 32747323 32747323 single base substitution C G intron_variant MELA-AU 1 32747462 32747462 single base substitution G A downstream_gene_variant MELA-AU 1 32747462 32747462 single base substitution G A intron_variant MELA-AU 1 32747483 32747483 single base substitution G A downstream_gene_variant MELA-AU 1 32747483 32747483 single base substitution G A intron_variant MELA-AU 1 32747491 32747491 single base substitution C T downstream_gene_variant MELA-AU 1 32747491 32747491 single base substitution C T intron_variant MELA-AU 1 32747791 32747791 single base substitution C T downstream_gene_variant MELA-AU 1 32747791 32747791 single base substitution C T intron_variant MELA-AU 1 32747801 32747801 single base substitution C T downstream_gene_variant MELA-AU 1 32747801 32747801 single base substitution C T intron_variant MELA-AU 1 32748146 32748147 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 32748146 32748147 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 32748191 32748191 single base substitution G A downstream_gene_variant MELA-AU 1 32748191 32748191 single base substitution G A intron_variant MELA-AU 1 32748219 32748219 single base substitution A G downstream_gene_variant MELA-AU 1 32748219 32748219 single base substitution A G intron_variant MELA-AU 1 32748930 32748931 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 32748930 32748931 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 32749214 32749214 single base substitution G A downstream_gene_variant MELA-AU 1 32749214 32749214 single base substitution G A intron_variant MELA-AU 1 32749230 32749230 single base substitution A C downstream_gene_variant MELA-AU 1 32749230 32749230 single base substitution A C intron_variant MELA-AU 1 32749233 32749233 single base substitution G A downstream_gene_variant MELA-AU 1 32749233 32749233 single base substitution G A intron_variant MELA-AU 1 32749297 32749297 single base substitution C T downstream_gene_variant MELA-AU 1 32749297 32749297 single base substitution C T intron_variant MELA-AU 1 32749606 32749606 single base substitution C T downstream_gene_variant MELA-AU 1 32749606 32749606 single base substitution C T intron_variant MELA-AU 1 32749733 32749733 single base substitution C T downstream_gene_variant MELA-AU 1 32749733 32749733 single base substitution C T intron_variant MELA-AU 1 32749879 32749879 single base substitution G A downstream_gene_variant MELA-AU 1 32749879 32749879 single base substitution G A intron_variant MELA-AU 1 32749919 32749919 single base substitution T G downstream_gene_variant MELA-AU 1 32749919 32749919 single base substitution T G intron_variant MELA-AU 1 32751018 32751018 single base substitution G A intron_variant MELA-AU 1 32751085 32751085 single base substitution C T intron_variant MELA-AU 1 32751221 32751221 single base substitution G A exon_variant MELA-AU 1 32751221 32751221 single base substitution G A synonymous_variant K478K 1434G>A MELA-AU 1 32751221 32751221 single base substitution G A synonymous_variant K485K 1455G>A MELA-AU 1 32751221 32751221 single base substitution G A synonymous_variant K508K 1524G>A MELA-AU 1 32751293 32751293 single base substitution G A exon_variant MELA-AU 1 32751293 32751293 single base substitution G A synonymous_variant E502E 1506G>A MELA-AU 1 32751293 32751293 single base substitution G A synonymous_variant E509E 1527G>A MELA-AU 1 32751293 32751293 single base substitution G A synonymous_variant E532E 1596G>A MELA-AU 1 32751342 32751342 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32751342 32751342 single base substitution C T downstream_gene_variant MELA-AU 1 32751342 32751342 single base substitution C T exon_variant MELA-AU 1 32751356 32751356 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32751356 32751356 single base substitution C T downstream_gene_variant MELA-AU 1 32751356 32751356 single base substitution C T exon_variant MELA-AU 1 32751803 32751803 single base substitution G T downstream_gene_variant MELA-AU 1 32751938 32751938 single base substitution C T downstream_gene_variant MELA-AU 1 32752023 32752023 single base substitution G A downstream_gene_variant MELA-AU 1 32752154 32752154 single base substitution C T downstream_gene_variant MELA-AU 1 32752712 32752713 multiple base substitution (>=2bp and <=200bp) TC AA downstream_gene_variant MELA-AU 1 32753071 32753071 single base substitution G A downstream_gene_variant MELA-AU 1 32753160 32753160 single base substitution C T downstream_gene_variant MELA-AU 1 32753188 32753188 single base substitution G A downstream_gene_variant MELA-AU 1 32753451 32753451 single base substitution G A downstream_gene_variant MELA-AU 1 32753790 32753790 single base substitution G A downstream_gene_variant MELA-AU 1 32754057 32754057 insertion of <=200bp - T downstream_gene_variant MELA-AU 1 32754331 32754331 single base substitution G A downstream_gene_variant MELA-AU 1 32754530 32754530 single base substitution C T downstream_gene_variant MELA-AU 1 32755653 32755653 single base substitution G A downstream_gene_variant MELA-AU 1 32756196 32756196 single base substitution G A downstream_gene_variant MELA-AU 1 32756588 32756588 single base substitution C T downstream_gene_variant ORCA-IN 1 32713907 32713907 single base substitution G C upstream_gene_variant ORCA-IN 1 32742066 32742066 single base substitution G T downstream_gene_variant ORCA-IN 1 32742066 32742066 single base substitution G T exon_variant ORCA-IN 1 32742066 32742066 single base substitution G T intron_variant ORCA-IN 1 32742066 32742066 single base substitution G T stop_gained G254* 760G>T OV-AU 1 32717236 32717236 single base substitution T A intron_variant OV-AU 1 32719923 32719923 single base substitution C A intron_variant OV-AU 1 32722242 32722242 single base substitution C T intron_variant OV-AU 1 32729668 32729668 single base substitution C T intron_variant OV-AU 1 32730694 32730694 single base substitution G C intron_variant OV-AU 1 32744747 32744747 single base substitution C T downstream_gene_variant OV-AU 1 32744747 32744747 single base substitution C T intron_variant OV-AU 1 32744849 32744849 single base substitution G C downstream_gene_variant OV-AU 1 32744849 32744849 single base substitution G C intron_variant OV-AU 1 32747252 32747252 single base substitution G A downstream_gene_variant OV-AU 1 32747252 32747252 single base substitution G A intron_variant OV-AU 1 32747510 32747510 single base substitution T A downstream_gene_variant OV-AU 1 32747510 32747510 single base substitution T A intron_variant PACA-AU 1 32714945 32714945 single base substitution A G upstream_gene_variant PACA-AU 1 32715190 32715190 single base substitution C G upstream_gene_variant PACA-AU 1 32717231 32717231 single base substitution G T intron_variant PACA-AU 1 32720518 32720518 single base substitution G A intron_variant PACA-AU 1 32722392 32722392 single base substitution T C intron_variant PACA-AU 1 32723273 32723273 single base substitution T C intron_variant PACA-AU 1 32724160 32724160 single base substitution A G intron_variant PACA-AU 1 32726312 32726312 single base substitution C G intron_variant PACA-AU 1 32729004 32729004 insertion of <=200bp - AAAT intron_variant PACA-AU 1 32729482 32729482 single base substitution C T intron_variant PACA-AU 1 32731581 32731581 single base substitution G A intron_variant PACA-AU 1 32736458 32736458 single base substitution C T intron_variant PACA-AU 1 32736458 32736458 single base substitution C T upstream_gene_variant PACA-AU 1 32741690 32741690 single base substitution G A downstream_gene_variant PACA-AU 1 32741690 32741690 single base substitution G A intron_variant PACA-AU 1 32742076 32742076 single base substitution G A downstream_gene_variant PACA-AU 1 32742076 32742076 single base substitution G A exon_variant PACA-AU 1 32742076 32742076 single base substitution G A intron_variant PACA-AU 1 32742076 32742076 single base substitution G A missense_variant G257E 770G>A PACA-AU 1 32742583 32742583 single base substitution C T downstream_gene_variant PACA-AU 1 32742583 32742583 single base substitution C T exon_variant PACA-AU 1 32742583 32742583 single base substitution C T intron_variant PACA-AU 1 32751348 32751348 single base substitution C A 3_prime_UTR_variant PACA-AU 1 32751348 32751348 single base substitution C A downstream_gene_variant PACA-AU 1 32751348 32751348 single base substitution C A exon_variant PACA-CA 1 32712361 32712361 single base substitution A G upstream_gene_variant PACA-CA 1 32720744 32720744 single base substitution G A intron_variant PACA-CA 1 32725344 32725344 single base substitution G A intron_variant PACA-CA 1 32734329 32734329 single base substitution G A intron_variant PACA-CA 1 32735181 32735181 single base substitution C T intron_variant PACA-CA 1 32735181 32735181 single base substitution C T upstream_gene_variant PACA-CA 1 32738206 32738206 single base substitution A G intron_variant PACA-CA 1 32738206 32738206 single base substitution A G upstream_gene_variant PACA-CA 1 32739781 32739781 single base substitution C A 5_prime_UTR_variant PACA-CA 1 32739781 32739781 single base substitution C A intron_variant PACA-CA 1 32739781 32739781 single base substitution C A upstream_gene_variant PACA-CA 1 32739915 32739915 single base substitution C T 5_prime_UTR_variant PACA-CA 1 32739915 32739915 single base substitution C T intron_variant PACA-CA 1 32739915 32739915 single base substitution C T synonymous_variant S39S 117C>T PACA-CA 1 32739915 32739915 single base substitution C T upstream_gene_variant PACA-CA 1 32744788 32744788 single base substitution T C downstream_gene_variant PACA-CA 1 32744788 32744788 single base substitution T C intron_variant PACA-CA 1 32745792 32745792 single base substitution C T downstream_gene_variant PACA-CA 1 32745792 32745792 single base substitution C T exon_variant PACA-CA 1 32745792 32745792 single base substitution C T synonymous_variant H436H 1308C>T PACA-CA 1 32745792 32745792 single base substitution C T synonymous_variant H443H 1329C>T PACA-CA 1 32745792 32745792 single base substitution C T synonymous_variant H466H 1398C>T PACA-CA 1 32746881 32746881 single base substitution A C downstream_gene_variant PACA-CA 1 32746881 32746881 single base substitution A C intron_variant PACA-CA 1 32748149 32748149 single base substitution G A downstream_gene_variant PACA-CA 1 32748149 32748149 single base substitution G A intron_variant PACA-CA 1 32749957 32749957 single base substitution T G downstream_gene_variant PACA-CA 1 32749957 32749957 single base substitution T G intron_variant PACA-CA 1 32751752 32751752 single base substitution T C 3_prime_UTR_variant PACA-CA 1 32751752 32751752 single base substitution T C downstream_gene_variant PACA-CA 1 32751752 32751752 single base substitution T C exon_variant PACA-CA 1 32752309 32752309 single base substitution A C downstream_gene_variant PAEN-IT 1 32720606 32720606 single base substitution A C intron_variant PAEN-IT 1 32734882 32734882 single base substitution T C intron_variant PAEN-IT 1 32734882 32734882 single base substitution T C upstream_gene_variant PBCA-DE 1 32718194 32718194 single base substitution C A intron_variant PBCA-DE 1 32719452 32719453 deletion of <=200bp AC - intron_variant PBCA-DE 1 32723544 32723544 deletion of <=200bp T - intron_variant PBCA-DE 1 32731938 32731938 deletion of <=200bp A - intron_variant PBCA-DE 1 32738225 32738226 deletion of <=200bp AG - intron_variant PBCA-DE 1 32738225 32738226 deletion of <=200bp AG - upstream_gene_variant PBCA-DE 1 32741012 32741012 single base substitution G A downstream_gene_variant PBCA-DE 1 32741012 32741012 single base substitution G A exon_variant PBCA-DE 1 32741012 32741012 single base substitution G A synonymous_variant E123E 369G>A PBCA-DE 1 32741012 32741012 single base substitution G A synonymous_variant E167E 501G>A PBCA-DE 1 32741012 32741012 single base substitution G A synonymous_variant E181E 543G>A PBCA-DE 1 32741012 32741012 single base substitution G A upstream_gene_variant PBCA-DE 1 32749853 32749854 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 1 32749853 32749854 deletion of <=200bp AT - intron_variant PBCA-DE 1 32749943 32749943 deletion of <=200bp A - downstream_gene_variant PBCA-DE 1 32749943 32749943 deletion of <=200bp A - intron_variant PBCA-DE 1 32753187 32753187 single base substitution G A downstream_gene_variant PBCA-DE 1 32754131 32754131 single base substitution G A downstream_gene_variant PBCA-DE 1 32754612 32754612 single base substitution T A downstream_gene_variant PRAD-CA 1 32716557 32716557 single base substitution C T upstream_gene_variant PRAD-CA 1 32723829 32723829 single base substitution A T intron_variant PRAD-CA 1 32738224 32738224 single base substitution A G intron_variant PRAD-CA 1 32738224 32738224 single base substitution A G upstream_gene_variant PRAD-CA 1 32743544 32743544 single base substitution A C downstream_gene_variant PRAD-CA 1 32743544 32743544 single base substitution A C intron_variant PRAD-CA 1 32753820 32753820 single base substitution C G downstream_gene_variant PRAD-UK 1 32727008 32727057 multiple base substitution (>=2bp and <=200bp) GGAGGCCGAGGTGGGCGGATCACGAAGTCAGGAGTTCAAGACCAGCCTAG GAGGCCGAGGTGGGCAGATCATGACGTCAGGAGTTTAAGACCAGCCTGA intron_variant PRAD-UK 1 32741221 32741221 single base substitution G T downstream_gene_variant PRAD-UK 1 32741221 32741221 single base substitution G T exon_variant PRAD-UK 1 32741221 32741221 single base substitution G T synonymous_variant A143A 429G>T PRAD-UK 1 32741221 32741221 single base substitution G T synonymous_variant A187A 561G>T PRAD-UK 1 32741221 32741221 single base substitution G T synonymous_variant A201A 603G>T PRAD-UK 1 32747752 32747752 single base substitution G A downstream_gene_variant PRAD-UK 1 32747752 32747752 single base substitution G A intron_variant PRAD-UK 1 32752184 32752184 single base substitution C T downstream_gene_variant READ-US 1 32713034 32713034 single base substitution G C upstream_gene_variant RECA-EU 1 32715985 32715985 single base substitution A G upstream_gene_variant RECA-EU 1 32719662 32719662 single base substitution G T intron_variant RECA-EU 1 32739466 32739466 single base substitution A T intron_variant RECA-EU 1 32739466 32739466 single base substitution A T upstream_gene_variant RECA-EU 1 32743895 32743895 single base substitution G A downstream_gene_variant RECA-EU 1 32743895 32743895 single base substitution G A intron_variant RECA-EU 1 32745390 32745390 single base substitution A T downstream_gene_variant RECA-EU 1 32745390 32745390 single base substitution A T exon_variant RECA-EU 1 32745390 32745390 single base substitution A T intron_variant SKCA-BR 1 32714573 32714573 single base substitution C A upstream_gene_variant SKCA-BR 1 32715113 32715113 single base substitution C T upstream_gene_variant SKCA-BR 1 32715514 32715514 single base substitution G A upstream_gene_variant SKCA-BR 1 32717415 32717415 single base substitution T G intron_variant SKCA-BR 1 32722607 32722607 single base substitution T G intron_variant SKCA-BR 1 32723444 32723444 single base substitution C T intron_variant SKCA-BR 1 32723445 32723445 single base substitution C A intron_variant SKCA-BR 1 32726677 32726677 single base substitution T A intron_variant SKCA-BR 1 32729003 32729007 deletion of <=200bp AAAAT - intron_variant SKCA-BR 1 32730104 32730104 single base substitution T G intron_variant SKCA-BR 1 32731074 32731074 single base substitution A T intron_variant SKCA-BR 1 32731621 32731621 single base substitution C T intron_variant SKCA-BR 1 32736619 32736619 single base substitution T A intron_variant SKCA-BR 1 32736619 32736619 single base substitution T A upstream_gene_variant SKCA-BR 1 32737301 32737301 single base substitution G A intron_variant SKCA-BR 1 32737301 32737301 single base substitution G A upstream_gene_variant SKCA-BR 1 32738174 32738174 insertion of <=200bp - AAGAGAGAGAGAGAAAGAG intron_variant SKCA-BR 1 32738174 32738174 insertion of <=200bp - AAGAGAGAGAGAGAAAGAG upstream_gene_variant SKCA-BR 1 32738238 32738238 insertion of <=200bp - GAA intron_variant SKCA-BR 1 32738238 32738238 insertion of <=200bp - GAA upstream_gene_variant SKCA-BR 1 32739689 32739689 single base substitution T G intron_variant SKCA-BR 1 32739689 32739689 single base substitution T G upstream_gene_variant SKCA-BR 1 32741963 32741963 single base substitution G A downstream_gene_variant SKCA-BR 1 32741963 32741963 single base substitution G A exon_variant SKCA-BR 1 32741963 32741963 single base substitution G A intron_variant SKCA-BR 1 32741963 32741963 single base substitution G A synonymous_variant R219R 657G>A SKCA-BR 1 32741963 32741963 single base substitution G A synonymous_variant R263R 789G>A SKCA-BR 1 32745122 32745122 single base substitution C T downstream_gene_variant SKCA-BR 1 32745122 32745122 single base substitution C T intron_variant SKCA-BR 1 32745334 32745334 single base substitution G A downstream_gene_variant SKCA-BR 1 32745334 32745334 single base substitution G A exon_variant SKCA-BR 1 32745334 32745334 single base substitution G A missense_variant D292N 874G>A SKCA-BR 1 32745334 32745334 single base substitution G A missense_variant D343N 1027G>A SKCA-BR 1 32745334 32745334 single base substitution G A missense_variant D350N 1048G>A SKCA-BR 1 32745334 32745334 single base substitution G A missense_variant D373N 1117G>A SKCA-BR 1 32745907 32745907 single base substitution A G downstream_gene_variant SKCA-BR 1 32745907 32745907 single base substitution A G intron_variant SKCA-BR 1 32747348 32747348 single base substitution G A downstream_gene_variant SKCA-BR 1 32747348 32747348 single base substitution G A intron_variant SKCA-BR 1 32747823 32747823 single base substitution C T downstream_gene_variant SKCA-BR 1 32747823 32747823 single base substitution C T intron_variant SKCA-BR 1 32747954 32747954 single base substitution G A downstream_gene_variant SKCA-BR 1 32747954 32747954 single base substitution G A intron_variant SKCA-BR 1 32748229 32748229 single base substitution A C downstream_gene_variant SKCA-BR 1 32748229 32748229 single base substitution A C intron_variant SKCA-BR 1 32749602 32749602 single base substitution C T downstream_gene_variant SKCA-BR 1 32749602 32749602 single base substitution C T intron_variant SKCA-BR 1 32751851 32751851 single base substitution T C downstream_gene_variant SKCA-BR 1 32753476 32753476 single base substitution G A downstream_gene_variant SKCM-US 1 32739964 32739964 single base substitution G A exon_variant SKCM-US 1 32739964 32739964 single base substitution G A missense_variant D12N 34G>A SKCM-US 1 32739964 32739964 single base substitution G A missense_variant D56N 166G>A SKCM-US 1 32739964 32739964 single base substitution G A upstream_gene_variant SKCM-US 1 32740386 32740386 single base substitution G A exon_variant SKCM-US 1 32740386 32740386 single base substitution G A missense_variant E52K 154G>A SKCM-US 1 32740386 32740386 single base substitution G A missense_variant E96K 286G>A SKCM-US 1 32740386 32740386 single base substitution G A upstream_gene_variant SKCM-US 1 32740400 32740400 single base substitution G T exon_variant SKCM-US 1 32740400 32740400 single base substitution G T synonymous_variant P100P 300G>T SKCM-US 1 32740400 32740400 single base substitution G T synonymous_variant P56P 168G>T SKCM-US 1 32740400 32740400 single base substitution G T upstream_gene_variant SKCM-US 1 32742026 32742026 single base substitution T G downstream_gene_variant SKCM-US 1 32742026 32742026 single base substitution T G exon_variant SKCM-US 1 32742026 32742026 single base substitution T G intron_variant SKCM-US 1 32742026 32742026 single base substitution T G synonymous_variant V240V 720T>G SKCM-US 1 32742026 32742026 single base substitution T G synonymous_variant V284V 852T>G SKCM-US 1 32742265 32742265 single base substitution C T downstream_gene_variant SKCM-US 1 32742265 32742265 single base substitution C T exon_variant SKCM-US 1 32742265 32742265 single base substitution C T missense_variant S230F 689C>T SKCM-US 1 32742265 32742265 single base substitution C T missense_variant S281F 842C>T SKCM-US 1 32742265 32742265 single base substitution C T missense_variant S288F 863C>T SKCM-US 1 32742299 32742299 single base substitution G C downstream_gene_variant SKCM-US 1 32742299 32742299 single base substitution G C exon_variant SKCM-US 1 32742299 32742299 single base substitution G C missense_variant M241I 723G>C SKCM-US 1 32742299 32742299 single base substitution G C missense_variant M292I 876G>C SKCM-US 1 32742299 32742299 single base substitution G C missense_variant M299I 897G>C SKCM-US 1 32742380 32742380 single base substitution G A downstream_gene_variant SKCM-US 1 32742380 32742380 single base substitution G A exon_variant SKCM-US 1 32742380 32742380 single base substitution G A missense_variant M268I 804G>A SKCM-US 1 32742380 32742380 single base substitution G A missense_variant M319I 957G>A SKCM-US 1 32742380 32742380 single base substitution G A missense_variant M326I 978G>A SKCM-US 1 32745282 32745282 single base substitution G A downstream_gene_variant SKCM-US 1 32745282 32745282 single base substitution G A exon_variant SKCM-US 1 32745282 32745282 single base substitution G A synonymous_variant V274V 822G>A SKCM-US 1 32745282 32745282 single base substitution G A synonymous_variant V325V 975G>A SKCM-US 1 32745282 32745282 single base substitution G A synonymous_variant V332V 996G>A SKCM-US 1 32745282 32745282 single base substitution G A synonymous_variant V355V 1065G>A SKCM-US 1 32745514 32745514 single base substitution G A downstream_gene_variant SKCM-US 1 32745514 32745514 single base substitution G A exon_variant SKCM-US 1 32745514 32745514 single base substitution G A missense_variant V372M 1114G>A SKCM-US 1 32745514 32745514 single base substitution G A missense_variant V379M 1135G>A SKCM-US 1 32745514 32745514 single base substitution G A missense_variant V402M 1204G>A SKCM-US 1 32745577 32745577 single base substitution G A downstream_gene_variant SKCM-US 1 32745577 32745577 single base substitution G A exon_variant SKCM-US 1 32745577 32745577 single base substitution G A missense_variant E393K 1177G>A SKCM-US 1 32745577 32745577 single base substitution G A missense_variant E400K 1198G>A SKCM-US 1 32745577 32745577 single base substitution G A missense_variant E423K 1267G>A SKCM-US 1 32745578 32745578 single base substitution A G downstream_gene_variant SKCM-US 1 32745578 32745578 single base substitution A G exon_variant SKCM-US 1 32745578 32745578 single base substitution A G missense_variant E393G 1178A>G SKCM-US 1 32745578 32745578 single base substitution A G missense_variant E400G 1199A>G SKCM-US 1 32745578 32745578 single base substitution A G missense_variant E423G 1268A>G SKCM-US 1 32745691 32745691 single base substitution C T downstream_gene_variant SKCM-US 1 32745691 32745691 single base substitution C T exon_variant SKCM-US 1 32745691 32745691 single base substitution C T missense_variant P403S 1207C>T SKCM-US 1 32745691 32745691 single base substitution C T missense_variant P410S 1228C>T SKCM-US 1 32745691 32745691 single base substitution C T missense_variant P433S 1297C>T SKCM-US 1 32745728 32745728 single base substitution G A downstream_gene_variant SKCM-US 1 32745728 32745728 single base substitution G A exon_variant SKCM-US 1 32745728 32745728 single base substitution G A missense_variant G415E 1244G>A SKCM-US 1 32745728 32745728 single base substitution G A missense_variant G422E 1265G>A SKCM-US 1 32745728 32745728 single base substitution G A missense_variant G445E 1334G>A SKCM-US 1 32745777 32745777 single base substitution G A downstream_gene_variant SKCM-US 1 32745777 32745777 single base substitution G A exon_variant SKCM-US 1 32745777 32745777 single base substitution G A synonymous_variant T431T 1293G>A SKCM-US 1 32745777 32745777 single base substitution G A synonymous_variant T438T 1314G>A SKCM-US 1 32745777 32745777 single base substitution G A synonymous_variant T461T 1383G>A SKCM-US 1 32745802 32745802 single base substitution C T downstream_gene_variant SKCM-US 1 32745802 32745802 single base substitution C T exon_variant SKCM-US 1 32745802 32745802 single base substitution C T missense_variant P440S 1318C>T SKCM-US 1 32745802 32745802 single base substitution C T missense_variant P447S 1339C>T SKCM-US 1 32745802 32745802 single base substitution C T missense_variant P470S 1408C>T SKCM-US 1 32745809 32745809 single base substitution C T downstream_gene_variant SKCM-US 1 32745809 32745809 single base substitution C T missense_variant P442L 1325C>T SKCM-US 1 32745809 32745809 single base substitution C T missense_variant P449L 1346C>T SKCM-US 1 32745809 32745809 single base substitution C T missense_variant P472L 1415C>T SKCM-US 1 32745809 32745809 single base substitution C T splice_region_variant SKCM-US 1 32751115 32751115 single base substitution G A missense_variant G443E 1328G>A SKCM-US 1 32751115 32751115 single base substitution G A missense_variant G450E 1349G>A SKCM-US 1 32751115 32751115 single base substitution G A missense_variant G473E 1418G>A SKCM-US 1 32751115 32751115 single base substitution G A splice_region_variant SKCM-US 1 32751132 32751132 single base substitution G A exon_variant SKCM-US 1 32751132 32751132 single base substitution G A missense_variant V449M 1345G>A SKCM-US 1 32751132 32751132 single base substitution G A missense_variant V456M 1366G>A SKCM-US 1 32751132 32751132 single base substitution G A missense_variant V479M 1435G>A SKCM-US 1 32751184 32751184 single base substitution C T exon_variant SKCM-US 1 32751184 32751184 single base substitution C T missense_variant P466L 1397C>T SKCM-US 1 32751184 32751184 single base substitution C T missense_variant P473L 1418C>T SKCM-US 1 32751184 32751184 single base substitution C T missense_variant P496L 1487C>T SKCM-US 1 32751281 32751281 single base substitution C T exon_variant SKCM-US 1 32751281 32751281 single base substitution C T synonymous_variant F498F 1494C>T SKCM-US 1 32751281 32751281 single base substitution C T synonymous_variant F505F 1515C>T SKCM-US 1 32751281 32751281 single base substitution C T synonymous_variant F528F 1584C>T STAD-US 1 32740365 32740365 single base substitution C T exon_variant STAD-US 1 32740365 32740365 single base substitution C T missense_variant R45W 133C>T STAD-US 1 32740365 32740365 single base substitution C T missense_variant R89W 265C>T STAD-US 1 32740365 32740365 single base substitution C T upstream_gene_variant STAD-US 1 32740967 32740967 single base substitution A T downstream_gene_variant STAD-US 1 32740967 32740967 single base substitution A T exon_variant STAD-US 1 32740967 32740967 single base substitution A T missense_variant E108D 324A>T STAD-US 1 32740967 32740967 single base substitution A T missense_variant E152D 456A>T STAD-US 1 32740967 32740967 single base substitution A T missense_variant E166D 498A>T STAD-US 1 32740967 32740967 single base substitution A T upstream_gene_variant STAD-US 1 32745341 32745341 single base substitution C T downstream_gene_variant STAD-US 1 32745341 32745341 single base substitution C T exon_variant STAD-US 1 32745341 32745341 single base substitution C T missense_variant A294V 881C>T STAD-US 1 32745341 32745341 single base substitution C T missense_variant A345V 1034C>T STAD-US 1 32745341 32745341 single base substitution C T missense_variant A352V 1055C>T STAD-US 1 32745341 32745341 single base substitution C T missense_variant A375V 1124C>T STAD-US 1 32745576 32745576 single base substitution C T downstream_gene_variant STAD-US 1 32745576 32745576 single base substitution C T exon_variant STAD-US 1 32745576 32745576 single base substitution C T synonymous_variant N392N 1176C>T STAD-US 1 32745576 32745576 single base substitution C T synonymous_variant N399N 1197C>T STAD-US 1 32745576 32745576 single base substitution C T synonymous_variant N422N 1266C>T STAD-US 1 32745586 32745586 single base substitution G A downstream_gene_variant STAD-US 1 32745586 32745586 single base substitution G A exon_variant STAD-US 1 32745586 32745586 single base substitution G A missense_variant A396T 1186G>A STAD-US 1 32745586 32745586 single base substitution G A missense_variant A403T 1207G>A STAD-US 1 32745586 32745586 single base substitution G A missense_variant A426T 1276G>A THCA-US 1 32739980 32739980 single base substitution T C exon_variant THCA-US 1 32739980 32739980 single base substitution T C missense_variant I17T 50T>C THCA-US 1 32739980 32739980 single base substitution T C missense_variant I61T 182T>C THCA-US 1 32739980 32739980 single base substitution T C upstream_gene_variant UCEC-US 1 32713148 32713148 single base substitution A G upstream_gene_variant UCEC-US 1 32740500 32740500 single base substitution C T exon_variant UCEC-US 1 32740500 32740500 single base substitution C T intron_variant UCEC-US 1 32740500 32740500 single base substitution C T missense_variant L134F 400C>T UCEC-US 1 32740500 32740500 single base substitution C T missense_variant L90F 268C>T UCEC-US 1 32740500 32740500 single base substitution C T upstream_gene_variant UCEC-US 1 32740586 32740586 single base substitution C A exon_variant UCEC-US 1 32740586 32740586 single base substitution C A intron_variant UCEC-US 1 32740586 32740586 single base substitution C A splice_region_variant UCEC-US 1 32740586 32740586 single base substitution C A synonymous_variant V118V 354C>A UCEC-US 1 32740586 32740586 single base substitution C A synonymous_variant V162V 486C>A UCEC-US 1 32740586 32740586 single base substitution C A upstream_gene_variant UCEC-US 1 32740928 32740928 single base substitution C T downstream_gene_variant UCEC-US 1 32740928 32740928 single base substitution C T exon_variant UCEC-US 1 32740928 32740928 single base substitution C T synonymous_variant G139G 417C>T UCEC-US 1 32740928 32740928 single base substitution C T synonymous_variant G153G 459C>T UCEC-US 1 32740928 32740928 single base substitution C T synonymous_variant G95G 285C>T UCEC-US 1 32740928 32740928 single base substitution C T upstream_gene_variant UCEC-US 1 32741575 32741575 single base substitution A C downstream_gene_variant UCEC-US 1 32741575 32741575 single base substitution A C exon_variant UCEC-US 1 32741575 32741575 single base substitution A C missense_variant Y181S 542A>C UCEC-US 1 32741575 32741575 single base substitution A C missense_variant Y225S 674A>C UCEC-US 1 32741575 32741575 single base substitution A C missense_variant Y239S 716A>C UCEC-US 1 32745264 32745264 single base substitution G A downstream_gene_variant UCEC-US 1 32745264 32745264 single base substitution G A splice_region_variant UCEC-US 1 32745264 32745264 single base substitution G A synonymous_variant L349L 1047G>A UCEC-US 1 32745764 32745764 single base substitution G A downstream_gene_variant UCEC-US 1 32745764 32745764 single base substitution G A exon_variant UCEC-US 1 32745764 32745764 single base substitution G A missense_variant G427E 1280G>A UCEC-US 1 32745764 32745764 single base substitution G A missense_variant G434E 1301G>A UCEC-US 1 32745764 32745764 single base substitution G A missense_variant G457E 1370G>A UCEC-US 1 32751188 32751188 single base substitution G T exon_variant UCEC-US 1 32751188 32751188 single base substitution G T missense_variant E467D 1401G>T UCEC-US 1 32751188 32751188 single base substitution G T missense_variant E474D 1422G>T UCEC-US 1 32751188 32751188 single base substitution G T missense_variant E497D 1491G>T UCEC-US 1 32751259 32751259 single base substitution G A exon_variant UCEC-US 1 32751259 32751259 single base substitution G A missense_variant R491H 1472G>A UCEC-US 1 32751259 32751259 single base substitution G A missense_variant R498H 1493G>A UCEC-US 1 32751259 32751259 single base substitution G A missense_variant R521H 1562G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-57-1582-01 COSM120108 c.55G>T p.V19L Substitution - Missense 1:32274384-32274384 + Pat_41_B COSM5846395 c.748C>T p.R250W Substitution - Missense 1:32276453-32276453 + PT37 COSM5917254 c.1328-6C>T p.? Unknown 1:32285508-32285508 + S09-31237-TP COSM4990563 c.253G>A p.G85R Substitution - Missense 1:32275058-32275058 + CSCC-38-T COSM4557442 c.729G>A p.E243E Substitution - coding silent 1:32276434-32276434 + CSCC-37-T COSM4568738 c.1298T>A p.I433N Substitution - Missense 1:32280181-32280181 + Pat_60_A COSM5846393 c.232G>A p.G78R Substitution - Missense 1:32275037-32275037 + sysucc-1397T COSM534931 c.1328-5C>A p.? Unknown 1:32285509-32285509 + 100912 COSM95623 c.1522C>T p.Q508* Substitution - Nonsense 1:32285708-32285708 + CSCC-4-T COSM4547722 c.42G>A p.M14I Substitution - Missense 1:32274371-32274371 + PT23_2 COSM5903342 c.1196-5C>T p.? Unknown 1:32280074-32280074 + C125 COSM4616732 c.589A>T p.I197F Substitution - Missense 1:32276021-32276021 + CSCC-32-T COSM4457456 c.1046C>T p.A349V Substitution - Missense 1:32279845-32279845 + TCGA-AA-A010-01 COSM282380 c.1195+4C>T p.? Unknown 1:32279998-32279998 + TCGA-EE-A2GO-06 COSM3488132 c.957G>A p.M319I Substitution - Missense 1:32276779-32276779 + 2492722 COSM5719226 c.1431G>A p.W477* Substitution - Nonsense 1:32285617-32285617 + KM12 COSM94600 c.1088G>A p.R363H Substitution - Missense 1:32279887-32279887 + C135 COSM4617442 c.376C>T p.P126S Substitution - Missense 1:32275418-32275418 + C086 COSM5533693 c.1284C>T p.I428I Substitution - coding silent 1:32280167-32280167 + 09-341 COSM1645497 c.1187C>T p.A396V Substitution - Missense 1:32279986-32279986 + HCT116 COSM1667355 c.1450C>T p.R484W Substitution - Missense 1:32285636-32285636 + TCGA-FS-A4F4-06 COSM3488122 c.168G>T p.P56P Substitution - coding silent 1:32274799-32274799 + CSCC-31-T COSM4501848 c.599C>T p.P200L Substitution - Missense 1:32276031-32276031 + CHC1592T COSM2077862 c.231C>T p.D77D Substitution - coding silent 1:32275036-32275036 + OSCC-GB_01090111 COSM4886492 c.760G>T p.G254* Substitution - Nonsense 1:32276465-32276465 + TCGA-D8-A1JA-01 COSM3804960 c.1419G>A p.M473I Substitution - Missense 1:32285605-32285605 + CHC1603T COSM4801885 c.1338C>T p.N446N Substitution - coding silent 1:32285524-32285524 + TCGA-G3-A6UC-01 COSM4929856 c.76C>G p.P26A Substitution - Missense 1:32274405-32274405 + 19M COSM5578874 c.322G>A p.E108K Substitution - Missense 1:32275364-32275364 + 587234 COSM1213167 c.656G>A p.R219Q Substitution - Missense 1:32276361-32276361 + TCGA-D9-A6EC-06 COSM4400355 c.1178A>G p.E393G Substitution - Missense 1:32279977-32279977 + TCGA-34-2600-01 COSM681105 c.913G>A p.A305T Substitution - Missense 1:32276735-32276735 + C135 COSM4617448 c.1162C>A p.L388I Substitution - Missense 1:32279961-32279961 + TCGA-UB-A7MB-01 COSM4932754 c.926A>T p.Q309L Substitution - Missense 1:32276748-32276748 + PT08_2 COSM5894222 c.1171G>A p.D391N Substitution - Missense 1:32279970-32279970 + TCGA-FW-A3R5-06 COSM3865313 c.720T>G p.V240V Substitution - coding silent 1:32276425-32276425 + TCGA-EE-A2GR-06 COSM3488158 c.1345G>A p.V449M Substitution - Missense 1:32285531-32285531 + 041T COSM1728848 c.1375A>G p.M459V Substitution - Missense 1:32285561-32285561 + YULAN COSM1687343 c.727G>A p.E243K Substitution - Missense 1:32276432-32276432 + TCGA-EL-A3T0-01 COSM3369694 c.50T>C p.I17T Substitution - Missense 1:32274379-32274379 + C086 COSM5533690 c.779G>A p.W260* Substitution - Nonsense 1:32276484-32276484 + PT35 COSM5911403 c.1036G>A p.A346T Substitution - Missense 1:32279742-32279742 + Pat_11_B COSM4990563 c.253G>A p.G85R Substitution - Missense 1:32275058-32275058 + HCT-116 COSM1667355 c.1450C>T p.R484W Substitution - Missense 1:32285636-32285636 + 2492721 COSM5719226 c.1431G>A p.W477* Substitution - Nonsense 1:32285617-32285617 + PT49 COSM4501848 c.599C>T p.P200L Substitution - Missense 1:32276031-32276031 + CHC1603T COSM4801885 c.1338C>T p.N446N Substitution - coding silent 1:32285524-32285524 + 2296_T COSM3977586 c.660G>T p.L220F Substitution - Missense 1:32276365-32276365 + CSCC-29-T COSM4462080 c.1232C>T p.A411V Substitution - Missense 1:32280115-32280115 + TCGA-HR-A2OH-01 COSM1341809 c.805A>G p.K269E Substitution - Missense 1:32276627-32276627 + S01728 COSM312468 c.876G>T p.M292I Substitution - Missense 1:32276698-32276698 + 8053200 COSM3386086 c.770G>A p.G257E Substitution - Missense 1:32276475-32276475 + DLD1 COSM4622794 c.452T>C p.F151S Substitution - Missense 1:32275643-32275643 + CHC1592T COSM2077862 c.231C>T p.D77D Substitution - coding silent 1:32275036-32275036 + TCGA-D3-A51R-06 COSM3488119 c.154G>A p.E52K Substitution - Missense 1:32274785-32274785 + TCGA-AP-A0LM-01 COSM908281 c.285C>T p.G95G Substitution - coding silent 1:32275327-32275327 + MOLT-4 COSM1667350 c.866C>A p.A289D Substitution - Missense 1:32276688-32276688 + T2269 COSM4697592 c.1073G>A p.R358Q Substitution - Missense 1:32279872-32279872 + 587342 COSM1213173 c.1261T>C p.S421P Substitution - Missense 1:32280144-32280144 + TCGA-AP-A059-01 COSM908293 c.1472G>A p.R491H Substitution - Missense 1:32285658-32285658 + TCGA-06-0646-01 COSM2151314 c.81A>T p.I27I Substitution - coding silent 1:32274410-32274410 + Au4 COSM5603941 c.1506G>A p.E502E Substitution - coding silent 1:32285692-32285692 + S00829 COSM5659850 c.481G>A p.G161R Substitution - Missense 1:32275672-32275672 + LUAD-NYU259 COSM371607 c.1335C>A p.T445T Substitution - coding silent 1:32285521-32285521 + TCGA-06-0210 COSM1559297 c.486G>A p.S162S Substitution - coding silent 1:32275918-32275918 + TCGA-HU-A4G9-01 COSM2077848 c.133C>T p.R45W Substitution - Missense 1:32274764-32274764 + 2521244 COSM5887186 c.1096C>T p.R366W Substitution - Missense 1:32279895-32279895 + T3021 COSM4697589 c.648G>A p.L216L Substitution - coding silent 1:32276353-32276353 + HCT15 COSM2077850 c.150C>A p.T50T Substitution - coding silent 1:32274781-32274781 + LUAD-RT-S01774 COSM381229 c.771G>A p.G257G Substitution - coding silent 1:32276476-32276476 + pfg011T COSM1639841 c.1294G>T p.E432* Substitution - Nonsense 1:32280177-32280177 + TCGA-39-5039-01 COSM681106 c.763C>G p.Q255E Substitution - Missense 1:32276468-32276468 + TCGA-DA-A3F5-06 COSM3488135 c.975G>A p.V325V Substitution - coding silent 1:32279681-32279681 + 587382 COSM1213171 c.1159C>T p.R387C Substitution - Missense 1:32279958-32279958 + BD156T COSM5494569 c.1056G>A p.M352I Substitution - Missense 1:32279855-32279855 + T3668 COSM4697587 c.316G>A p.G106S Substitution - Missense 1:32275358-32275358 + 0088_CRUK_PC_0088_T1_DNA COSM5423070 c.429G>T p.A143A Substitution - coding silent 1:32275620-32275620 + TL42 COSM5751804 c.349G>T p.A117S Substitution - Missense 1:32275391-32275391 + TCGA-E9-A1RB-01 COSM1473863 c.1062C>A p.F354L Substitution - Missense 1:32279861-32279861 + ESCC_50 COSM5630834 c.1269G>A p.V423V Substitution - coding silent 1:32280152-32280152 + TCGA-A2-A0EQ-01 COSM426097 c.423C>T p.L141L Substitution - coding silent 1:32275614-32275614 + TCGA-FW-A3R5-06 COSM3865319 c.1397C>T p.P466L Substitution - Missense 1:32285583-32285583 + SUPT1 COSM327047 c.1078T>C p.Y360H Substitution - Missense 1:32279877-32279877 + PTC-14C COSM4143805 c.1524G>C p.Q508H Substitution - Missense 1:32285710-32285710 + YUVAIL COSM1686349 c.1042-1G>A p.? Unknown 1:32279840-32279840 + TCGA-CM-6680-01 COSM1341807 c.695C>T p.P232L Substitution - Missense 1:32276400-32276400 + BD189T COSM5508255 c.530T>G p.V177G Substitution - Missense 1:32275962-32275962 + DLD1 COSM2077850 c.150C>A p.T50T Substitution - coding silent 1:32274781-32274781 + TCGA-EE-A2GD-06 COSM3488129 c.876G>C p.M292I Substitution - Missense 1:32276698-32276698 + TCGA-09-2049-01 COSM80098 c.1302C>T p.V434V Substitution - coding silent 1:32280185-32280185 + sysucc-880T COSM5462321 c.1129A>G p.S377G Substitution - Missense 1:32279928-32279928 + C086 COSM5533696 c.105G>A p.T35T Substitution - coding silent 1:32274434-32274434 + HCC16 COSM1602214 c.740T>A p.L247Q Substitution - Missense 1:32276445-32276445 + C135 COSM4617445 c.1131C>T p.S377S Substitution - coding silent 1:32279930-32279930 + TCGA-06-0646 COSM2151314 c.81A>T p.I27I Substitution - coding silent 1:32274410-32274410 + CTV1 COSM327043 c.1498G>A p.A500T Substitution - Missense 1:32285684-32285684 + 16678 COSM48482 c.991C>T p.P331S Substitution - Missense 1:32279697-32279697 + A9 COSM5350104 c.709G>A p.E237K Substitution - Missense 1:32276414-32276414 + COLO201 COSM2077860 c.222C>T p.P74P Substitution - coding silent 1:32275027-32275027 + SJACT013_D COSM4968431 c.1162C>T p.L388F Substitution - Missense 1:32279961-32279961 + MOLT-4 COSM1645497 c.1187C>T p.A396V Substitution - Missense 1:32279986-32279986 + SNUH_G16_S1 COSM3677666 c.528G>A p.E176E Substitution - coding silent 1:32275960-32275960 + sysucc-1072T COSM5482887 c.357G>A p.A119A Substitution - coding silent 1:32275399-32275399 + S09-31237-TP COSM4990566 c.254G>A p.G85E Substitution - Missense 1:32275059-32275059 + TCGA-D8-A1XJ-01 COSM1473861 c.804G>A p.T268T Substitution - coding silent 1:32276626-32276626 + TCGA-FW-A3R5-06 COSM2077912 c.1494C>T p.F498F Substitution - coding silent 1:32285680-32285680 + SNUH_G17_S1 COSM3677666 c.528G>A p.E176E Substitution - coding silent 1:32275960-32275960 + PD1487a COSM13333 c.807G>A p.K269K Substitution - coding silent 1:32276629-32276629 + PD8984a COSM5793303 c.1093C>G p.L365V Substitution - Missense 1:32279892-32279892 + TCGA-06-0210-02 COSM1559297 c.486G>A p.S162S Substitution - coding silent 1:32275918-32275918 + CTV1 COSM327041 c.1340C>T p.P447L Substitution - Missense 1:32285526-32285526 + ESCC_168 COSM5648660 c.1242C>T p.Y414Y Substitution - coding silent 1:32280125-32280125 + TCGA-GN-A26C-01 COSM3488143 c.1244G>A p.G415E Substitution - Missense 1:32280127-32280127 + S01728 COSM312468 c.876G>T p.M292I Substitution - Missense 1:32276698-32276698 + CTV1 COSM327039 c.1058C>T p.A353V Substitution - Missense 1:32279857-32279857 + 105243 COSM94600 c.1088G>A p.R363H Substitution - Missense 1:32279887-32279887 + TCGA-EE-A3JI-06 COSM3488152 c.1325C>T p.P442L Substitution - Missense 1:32280208-32280208 + TCGA-D1-A17Q-01 COSM908289 c.1401G>T p.E467D Substitution - Missense 1:32285587-32285587 + PT36 COSM4451652 c.1337A>G p.N446S Substitution - Missense 1:32285523-32285523 + TCGA-63-6202-01 COSM681108 c.230A>T p.D77V Substitution - Missense 1:32275035-32275035 + 587376 COSM1213169 c.1328-1G>T p.? Unknown 1:32285513-32285513 + HCC2998 COSM1667353 c.1373G>A p.R458H Substitution - Missense 1:32285559-32285559 + CSCC-6-T COSM4451652 c.1337A>G p.N446S Substitution - Missense 1:32285523-32285523 + S02350 COSM5694549 c.251A>G p.K84R Substitution - Missense 1:32275056-32275056 + 61 COSM5735369 c.845C>T p.P282L Substitution - Missense 1:32276667-32276667 + HCC16T COSM1602214 c.740T>A p.L247Q Substitution - Missense 1:32276445-32276445 + TCGA-BR-7707-01 COSM4031477 c.1034C>T p.A345V Substitution - Missense 1:32279740-32279740 + 2492723 COSM5719226 c.1431G>A p.W477* Substitution - Nonsense 1:32285617-32285617 + PD1487a COSM13333 c.807G>A p.K269K Substitution - coding silent 1:32276629-32276629 + YURUS COSM1687342 c.587G>A p.R196Q Substitution - Missense 1:32276019-32276019 + 127T COSM1213171 c.1159C>T p.R387C Substitution - Missense 1:32279958-32279958 + DN14041 COSM1559297 c.486G>A p.S162S Substitution - coding silent 1:32275918-32275918 + 585260 COSM325668 c.1454C>A p.P485H Substitution - Missense 1:32285640-32285640 + 2492720 COSM5719226 c.1431G>A p.W477* Substitution - Nonsense 1:32285617-32285617 + HCC2998 COSM1667353 c.1373G>A p.R458H Substitution - Missense 1:32285559-32285559 + TCGA-EE-A3AA-06 COSM3488126 c.842C>T p.S281F Substitution - Missense 1:32276664-32276664 + Pat_76_B COSM5846398 c.1402G>A p.E468K Substitution - Missense 1:32285588-32285588 + DLD1 COSM4622797 c.871C>A p.L291I Substitution - Missense 1:32276693-32276693 + TCGA-AP-A056-01 COSM908279 c.188-8C>A p.? Unknown 1:32274985-32274985 + TCGA-FW-A3R5-06 COSM3865316 c.1114G>A p.V372M Substitution - Missense 1:32279913-32279913 + T3262 COSM4697595 c.1346T>C p.V449A Substitution - Missense 1:32285532-32285532 + HCC2998 COSM2077890 c.1016A>G p.N339S Substitution - Missense 1:32279722-32279722 + 1920_T COSM3977589 c.1439G>T p.R480L Substitution - Missense 1:32285625-32285625 + KARPAS45 COSM327045 c.377+9G>A p.? Unknown 1:32275428-32275428 + TCGA-D1-A103-01 COSM908285 c.965-8G>A p.? Unknown 1:32279663-32279663 + 1731645 COSM327843 c.619C>T p.R207C Substitution - Missense 1:32276051-32276051 + TCGA-06-0210-01 COSM1559297 c.486G>A p.S162S Substitution - coding silent 1:32275918-32275918 + CSCC-16-T COSM4556643 c.698G>A p.W233* Substitution - Nonsense 1:32276403-32276403 + TCGA-CF-A1HR-01 COSM414477 c.829C>A p.Q277K Substitution - Missense 1:32276651-32276651 + PD13756a COSM5773457 c.29A>T p.E10V Substitution - Missense 1:32274358-32274358 + TCGA-D3-A51T-06 COSM3488149 c.1318C>T p.P440S Substitution - Missense 1:32280201-32280201 + 1N25-VS-1T25 COSM4547722 c.42G>A p.M14I Substitution - Missense 1:32274371-32274371 + YUGATOR COSM5380654 c.808G>A p.V270M Substitution - Missense 1:32276630-32276630 + TCGA-B5-A11N-01 COSM908283 c.542A>C p.Y181S Substitution - Missense 1:32275974-32275974 + cSCCP8 COSM140353 c.1207C>T p.P403S Substitution - Missense 1:32280090-32280090 + 2521252 COSM5888576 c.1041+6G>A p.? Unknown 1:32279753-32279753 + TCGA-EE-A3JA-06 COSM3488138 c.1177G>A p.E393K Substitution - Missense 1:32279976-32279976 + CSCC-18-T COSM4525386 c.1327G>A p.G443R Substitution - Missense 1:32280210-32280210 + TCGA-GN-A266-06 COSM3488116 c.34G>A p.D12N Substitution - Missense 1:32274363-32274363 + TCGA-EE-A3JA-06 COSM140353 c.1207C>T p.P403S Substitution - Missense 1:32280090-32280090 + BZ19 COSM5758483 c.738G>C p.K246N Substitution - Missense 1:32276443-32276443 + TCGA-BG-A0M4-01 COSM908291 c.1407G>T p.L469L Substitution - coding silent 1:32285593-32285593 + TCGA-AP-A0LT-01 COSM908287 c.1280G>A p.G427E Substitution - Missense 1:32280163-32280163 + YUBER COSM1687340 c.334C>T p.P112S Substitution - Missense 1:32275376-32275376 + TCGA-BR-4257-01 COSM4031480 c.1176C>T p.N392N Substitution - coding silent 1:32279975-32279975 + Pat_76_A COSM5846398 c.1402G>A p.E468K Substitution - Missense 1:32285588-32285588 + KM12 COSM94600 c.1088G>A p.R363H Substitution - Missense 1:32279887-32279887 + TCGA-D3-A5GO-06 COSM3488146 c.1293G>A p.T431T Substitution - coding silent 1:32280176-32280176 + Pat_11_A COSM4990563 c.253G>A p.G85R Substitution - Missense 1:32275058-32275058 + TCGA-BR-8372-01 COSM4031474 c.324A>T p.E108D Substitution - Missense 1:32275366-32275366 + TCGA-BR-8361-01 COSM4031483 c.1186G>A p.A396T Substitution - Missense 1:32279985-32279985 + COLO205 COSM2077860 c.222C>T p.P74P Substitution - coding silent 1:32275027-32275027 + TCGA-EE-A2MR-06 COSM3488155 c.1328G>A p.G443E Substitution - Missense 1:32285514-32285514 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.470617;Hs.470627 1p34.3 153390 1509862|dbSNP|BC013200|A/G|non-coding||1912|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.S332S c.996A>C 1 32745303 LUAD - A Frameshift p.R222Tfs*96 c.663_664insA 1 32741969 LUAD AG - IntronicDeletion . c.1-15021_1-15020delGA 1 32724909 CLL A G Missense p.K269E c.805A>G 1 32742228 CM A T Missense p.D77V c.230A>T 1 32740636 LUSC A T Synonymous p.I27I c.81A>T 1 32740011 GBM C A Missense p.F354L c.1062C>A 1 32745462 BRCA C A Missense p.P485H c.1454C>A 1 32751241 SCLC C A Missense p.Q277K c.829C>A 1 32742252 BLCA CC TT Missense p.T375I c.1124_1125delinsTT 1 32745524 CM C G Missense p.F191L c.573C>G 1 32741606 LUAD C G Missense p.Q255E c.763C>G 1 32742069 LUSC C - IntronicDeletion . c.965-41delC 1 32745227 STAD C T IntronicSNV . c.187+67C>T 1 32740486 CM C T IntronicSNV . c.187+81C>T 1 32740500 UCEC C T Missense p.P331S c.991C>T 1 32745298 LUAD C T Missense p.P403S c.1207C>T 1 32745691 CM C T Missense p.P442L c.1325C>T 1 32745809 CM C T Missense p.R184C c.550C>T 1 32741583 CM C T Missense p.R438C c.1312C>T 1 32745796 CM C T Missense p.S281F c.842C>T 1 32742265 CM C T Missense p.T35M c.104C>T 1 32740034 HNSC C T Synonymous p.I111I c.333C>T 1 32740976 CM C T Synonymous p.L141L c.423C>T 1 32741215 BRCA C T Synonymous p.N392N c.1176C>T 1 32745576 STAD C T Synonymous p.V434V c.1302C>T 1 32745786 OV G A IntronicSNV . c.278+92G>A 1 32740776 CM G A Missense p.A253T c.757G>A 1 32742063 CM G A Missense p.A305T c.913G>A 1 32742336 LUSC G A Missense p.D11N c.31G>A 1 32739961 HNSC G A Missense p.E10K c.28G>A 1 32739958 LUAD G A Missense p.E393K c.1177G>A 1 32745577 CM G A Missense p.G415E c.1244G>A 1 32745728 CM G A Missense p.G427E c.1280G>A 1 32745764 UCEC G A Missense p.M319I c.957G>A 1 32742380 CM G A Missense p.V449M c.1345G>A 1 32751132 CM G A Nonsense p.W238* c.714G>A 1 32742020 CM G A SpliceAcceptorSNV . c.1042-1G>A 1 32745441 HNSC G A Synonymous p.K293K c.879G>A 1 32742302 BRCA G A Synonymous p.S162S c.486G>A 1 32741519 GBM G A Synonymous p.T268T c.804G>A 1 32742227 BRCA G A Synonymous p.V325V c.975G>A 1 32745282 CM G C Missense p.M292I c.876G>C 1 32742299 CM G T Missense p.D31Y c.91G>T 1 32740021 HNSC G T Missense p.G85V c.254G>T 1 32740660 CM G T Missense p.M292I c.876G>T 1 32742299 SCLC G T Missense p.V19L c.55G>T 1 32739985 OV G T Nonsense p.E432* c.1294G>T 1 32745778 STAD T C Missense p.I17T c.50T>C 1 32739980 THCA T G IntronicSNV . c.1-102T>G 1 32739829 CM