Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 117656050 117656050 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr1:117656050G>A c.1525C>T c.(1525-1527)Cac>Tac p.H509Y BLCA 1 117663532 117663532 + Missense_Mutation SNP C C T TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr1:117663532C>T c.292G>A c.(292-294)Gat>Aat p.D98N BLCA 1 117663548 117663548 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:117663548G>C c.276C>G c.(274-276)atC>atG p.I92M BLCA 1 117663586 117663586 + Missense_Mutation SNP C C T TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr1:117663586C>T c.238G>A c.(238-240)Gaa>Aaa p.E80K BLCA 1 117663604 117663604 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:117663604C>T c.220G>A c.(220-222)Gag>Aag p.E74K BLCA 1 117663630 117663630 + Missense_Mutation SNP C C T TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr1:117663630C>T c.194G>A c.(193-195)cGa>cAa p.R65Q BLCA 1 117663656 117663656 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:117663656C>T c.168G>A c.(166-168)ctG>ctA p.L56L BLCA 1 117663809 117663810 + Frame_Shift_Del DEL TC TC - TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr1:117663809_117663810delTC c.14_15delGA c.(13-15)agafs p.R5fs BRCA 1 117663630 117663630 + Missense_Mutation SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 g.chr1:117663630C>G c.194G>C c.(193-195)cGa>cCa p.R65P CESC 1 117660797 117660797 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 g.chr1:117660797G>A c.1081C>T c.(1081-1083)Caa>Taa p.Q361* CESC 1 117663434 117663434 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr1:117663434G>A c.390C>T c.(388-390)ggC>ggT p.G130G COAD 1 117655069 117655069 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:117655069T>C c.1601A>G c.(1600-1602)tAc>tGc p.Y534C COAD 1 117655985 117655985 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:117655985C>T c.1590G>A c.(1588-1590)atG>atA p.M530I COAD 1 117655999 117655999 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:117655999A>G c.1576T>C c.(1576-1578)Tgt>Cgt p.C526R COAD 1 117656011 117656011 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:117656011C>T c.1564G>A c.(1564-1566)Gct>Act p.A522T COAD 1 117656070 117656070 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:117656070C>T c.1505G>A c.(1504-1506)cGc>cAc p.R502H COAD 1 117656086 117656086 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr1:117656086C>T c.1489G>A c.(1489-1491)Gtg>Atg p.V497M COAD 1 117656105 117656105 + Silent SNP G G T TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr1:117656105G>T c.1470C>A c.(1468-1470)ggC>ggA p.G490G COAD 1 117658238 117658238 + Missense_Mutation SNP C C T TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr1:117658238C>T c.1426G>A c.(1426-1428)Gtc>Atc p.V476I COAD 1 117658312 117658312 + Splice_Site SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:117658312C>T c.e4-1 COAD 1 117658313 117658313 + Splice_Site SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:117658313T>C c.e4-2 COAD 1 117659291 117659291 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:117659291G>A c.1299C>T c.(1297-1299)ggC>ggT p.G433G COAD 1 117659339 117659339 + Silent SNP C C T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr1:117659339C>T c.1251G>A c.(1249-1251)acG>acA p.T417T COAD 1 117660662 117660662 + Nonsense_Mutation SNP C C A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:117660662C>A c.1216G>T c.(1216-1218)Gga>Tga p.G406* COAD 1 117660717 117660717 + Missense_Mutation SNP T T G TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr1:117660717T>G c.1161A>C c.(1159-1161)gaA>gaC p.E387D COAD 1 117660884 117660884 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:117660884C>T c.994G>A c.(994-996)Gag>Aag p.E332K COAD 1 117661060 117661060 + Missense_Mutation SNP A A T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:117661060A>T c.818T>A c.(817-819)gTg>gAg p.V273E COAD 1 117661235 117661235 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:117661235C>T c.643G>A c.(643-645)Gtg>Atg p.V215M COAD 1 117661317 117661317 + Silent SNP C C T TCGA-AA-3684-01A-02W-0900-09 TCGA-AA-3684-10A-01W-0900-09 g.chr1:117661317C>T c.561G>A c.(559-561)aaG>aaA p.K187K COAD 1 117663416 117663416 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:117663416G>A c.408C>T c.(406-408)gaC>gaT p.D136D COADREAD 1 117655069 117655069 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:117655069T>C c.1601A>G c.(1600-1602)tAc>tGc p.Y534C COADREAD 1 117655985 117655985 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:117655985C>T c.1590G>A c.(1588-1590)atG>atA p.M530I COADREAD 1 117655999 117655999 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr1:117655999A>G c.1576T>C c.(1576-1578)Tgt>Cgt p.C526R COADREAD 1 117656011 117656011 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:117656011C>T c.1564G>A c.(1564-1566)Gct>Act p.A522T COADREAD 1 117656070 117656070 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:117656070C>T c.1505G>A c.(1504-1506)cGc>cAc p.R502H COADREAD 1 117656086 117656086 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr1:117656086C>T c.1489G>A c.(1489-1491)Gtg>Atg p.V497M COADREAD 1 117656105 117656105 + Silent SNP G G T TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr1:117656105G>T c.1470C>A c.(1468-1470)ggC>ggA p.G490G COADREAD 1 117658238 117658238 + Missense_Mutation SNP C C T TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr1:117658238C>T c.1426G>A c.(1426-1428)Gtc>Atc p.V476I COADREAD 1 117658312 117658312 + Splice_Site SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:117658312C>T c.e4-1 COADREAD 1 117658313 117658313 + Splice_Site SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:117658313T>C c.e4-2 COADREAD 1 117659291 117659291 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:117659291G>A c.1299C>T c.(1297-1299)ggC>ggT p.G433G COADREAD 1 117659339 117659339 + Silent SNP C C T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr1:117659339C>T c.1251G>A c.(1249-1251)acG>acA p.T417T COADREAD 1 117660662 117660662 + Nonsense_Mutation SNP C C A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:117660662C>A c.1216G>T c.(1216-1218)Gga>Tga p.G406* COADREAD 1 117660717 117660717 + Missense_Mutation SNP T T G TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr1:117660717T>G c.1161A>C c.(1159-1161)gaA>gaC p.E387D COADREAD 1 117660884 117660884 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:117660884C>T c.994G>A c.(994-996)Gag>Aag p.E332K COADREAD 1 117661060 117661060 + Missense_Mutation SNP A A T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:117661060A>T c.818T>A c.(817-819)gTg>gAg p.V273E COADREAD 1 117661235 117661235 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:117661235C>T c.643G>A c.(643-645)Gtg>Atg p.V215M COADREAD 1 117661317 117661317 + Silent SNP C C T TCGA-AA-3684-01A-02W-0900-09 TCGA-AA-3684-10A-01W-0900-09 g.chr1:117661317C>T c.561G>A c.(559-561)aaG>aaA p.K187K COADREAD 1 117663416 117663416 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:117663416G>A c.408C>T c.(406-408)gaC>gaT p.D136D DLBC 1 117659283 117659283 + Missense_Mutation SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr1:117659283C>T c.1307G>A c.(1306-1308)gGa>gAa p.G436E ESCA 1 117661014 117661014 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:117661014A>G c.864T>C c.(862-864)atT>atC p.I288I ESCA 1 117661118 117661118 + Nonsense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 g.chr1:117661118C>A c.760G>T c.(760-762)Gaa>Taa p.E254* GBM 1 117663350 117663350 + Silent SNP G G A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr1:117663350G>A c.474C>T c.(472-474)tgC>tgT p.C158C GBMLGG 1 117663350 117663350 + Silent SNP G G A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr1:117663350G>A c.474C>T c.(472-474)tgC>tgT p.C158C GBMLGG 1 117663672 117663672 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:117663672G>A c.152C>T c.(151-153)aCg>aTg p.T51M HNSC 1 117656090 117656090 + Silent SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr1:117656090C>G c.1485G>C c.(1483-1485)gtG>gtC p.V495V HNSC 1 117660854 117660854 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr1:117660854C>G c.1024G>C c.(1024-1026)Gag>Cag p.E342Q HNSC 1 117661121 117661121 + Missense_Mutation SNP C C G TCGA-CN-6013-01A-11D-1683-08 TCGA-CN-6013-10A-01D-1683-08 g.chr1:117661121C>G c.757G>C c.(757-759)Gag>Cag p.E253Q HNSC 1 117661121 117661121 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr1:117661121C>T c.757G>A c.(757-759)Gag>Aag p.E253K HNSC 1 117663359 117663359 + Silent SNP G G A TCGA-CV-7255-01A-11D-2012-08 TCGA-CV-7255-10A-01D-2013-08 g.chr1:117663359G>A c.465C>T c.(463-465)tgC>tgT p.C155C KIPAN 1 117660955 117660955 + Missense_Mutation SNP T T G TCGA-IZ-A6M8-01A-11D-A31X-10 TCGA-IZ-A6M8-10A-01D-A31X-10 g.chr1:117660955T>G c.923A>C c.(922-924)aAt>aCt p.N308T KIPAN 1 117660996 117660996 + Silent SNP C C T TCGA-B0-4819-01A-01D-1361-10 TCGA-B0-4819-11A-01D-1361-10 g.chr1:117660996C>T c.882G>A c.(880-882)aaG>aaA p.K294K KIPAN 1 117661045 117661045 + Missense_Mutation SNP C C T TCGA-CZ-5452-01A-01D-1501-10 TCGA-CZ-5452-11A-01D-1501-10 g.chr1:117661045C>T c.833G>A c.(832-834)cGg>cAg p.R278Q KIRC 1 117660996 117660996 + Silent SNP C C T TCGA-B0-4819-01A-01D-1361-10 TCGA-B0-4819-11A-01D-1361-10 g.chr1:117660996C>T c.882G>A c.(880-882)aaG>aaA p.K294K KIRC 1 117661045 117661045 + Missense_Mutation SNP C C T TCGA-CZ-5452-01A-01D-1501-10 TCGA-CZ-5452-11A-01D-1501-10 g.chr1:117661045C>T c.833G>A c.(832-834)cGg>cAg p.R278Q KIRP 1 117660955 117660955 + Missense_Mutation SNP T T G TCGA-IZ-A6M8-01A-11D-A31X-10 TCGA-IZ-A6M8-10A-01D-A31X-10 g.chr1:117660955T>G c.923A>C c.(922-924)aAt>aCt p.N308T LAML 1 117663343 117663343 + Missense_Mutation SNP C C T TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 g.chr1:117663343C>T c.481G>A c.(481-483)Gct>Act p.A161T LGG 1 117663672 117663672 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:117663672G>A c.152C>T c.(151-153)aCg>aTg p.T51M LIHC 1 117661332 117661332 + Nonsense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr1:117661332G>T c.546C>A c.(544-546)taC>taA p.Y182* LUAD 1 117654991 117654991 + Missense_Mutation SNP G G T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 g.chr1:117654991G>T c.1679C>A c.(1678-1680)tCt>tAt p.S560Y LUAD 1 117660813 117660813 + Silent SNP C C T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr1:117660813C>T c.1065G>A c.(1063-1065)agG>agA p.R355R LUSC 1 117654991 117654991 + Missense_Mutation SNP G G T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr1:117654991G>T c.1679C>A c.(1678-1680)tCt>tAt p.S560Y LUSC 1 117660706 117660706 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:117660706G>T c.1172C>A c.(1171-1173)aCg>aAg p.T391K LUSC 1 117660749 117660749 + Missense_Mutation SNP G G C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr1:117660749G>C c.1129C>G c.(1129-1131)Cag>Gag p.Q377E LUSC 1 117663382 117663382 + Missense_Mutation SNP G G T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:117663382G>T c.442C>A c.(442-444)Cag>Aag p.Q148K LUSC 1 117663389 117663389 + Missense_Mutation SNP C C G TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr1:117663389C>G c.435G>C c.(433-435)aaG>aaC p.K145N PAAD 1 117658224 117658224 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:117658224C>A c.1440G>T c.(1438-1440)tgG>tgT p.W480C PRAD 1 117661174 117661174 + Missense_Mutation SNP C C A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 g.chr1:117661174C>A c.704G>T c.(703-705)gGg>gTg p.G235V SARC 1 117663697 117663697 + Missense_Mutation SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 g.chr1:117663697G>A c.127C>T c.(127-129)Cct>Tct p.P43S SKCM 1 117654930 117654930 + Silent SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr1:117654930G>A c.1740C>T c.(1738-1740)ctC>ctT p.L580L SKCM 1 117658248 117658248 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:117658248C>T c.1416G>A c.(1414-1416)aaG>aaA p.K472K SKCM 1 117660703 117660703 + Missense_Mutation SNP A A T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr1:117660703A>T c.1175T>A c.(1174-1176)aTt>aAt p.I392N SKCM 1 117660782 117660782 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr1:117660782G>A c.1096C>T c.(1096-1098)Cct>Tct p.P366S SKCM 1 117661046 117661046 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:117661046G>A c.832C>T c.(832-834)Cgg>Tgg p.R278W SKCM 1 117661263 117661263 + Missense_Mutation SNP G G T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr1:117661263G>T c.615C>A c.(613-615)ttC>ttA p.F205L SKCM 1 117663645 117663645 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:117663645G>A c.179C>T c.(178-180)tCa>tTa p.S60L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 117654928 117654928 single base substitution C G exon_variant BLCA-CN 1 117654928 117654928 single base substitution C G stop_lost *524S 1571G>C BLCA-CN 1 117654928 117654928 single base substitution C G stop_lost *563S 1688G>C BLCA-CN 1 117654928 117654928 single base substitution C G stop_lost *581S 1742G>C BLCA-US 1 117656050 117656050 single base substitution G A downstream_gene_variant BLCA-US 1 117656050 117656050 single base substitution G A exon_variant BLCA-US 1 117656050 117656050 single base substitution G A missense_variant H452Y 1354C>T BLCA-US 1 117656050 117656050 single base substitution G A missense_variant H491Y 1471C>T BLCA-US 1 117656050 117656050 single base substitution G A missense_variant H509Y 1525C>T BRCA-EU 1 117652030 117652030 single base substitution G C downstream_gene_variant BRCA-EU 1 117652695 117652695 single base substitution G A downstream_gene_variant BRCA-EU 1 117653985 117653985 single base substitution T G 3_prime_UTR_variant BRCA-EU 1 117653985 117653985 single base substitution T G downstream_gene_variant BRCA-EU 1 117653985 117653985 single base substitution T G intron_variant BRCA-EU 1 117654276 117654276 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 117654276 117654276 single base substitution A G downstream_gene_variant BRCA-EU 1 117654276 117654276 single base substitution A G intron_variant BRCA-EU 1 117654346 117654346 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 117654346 117654346 single base substitution G A downstream_gene_variant BRCA-EU 1 117654346 117654346 single base substitution G A intron_variant BRCA-EU 1 117654751 117654751 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 117654751 117654751 single base substitution C T downstream_gene_variant BRCA-EU 1 117655514 117655514 deletion of <=200bp T - intron_variant BRCA-EU 1 117656002 117656002 single base substitution C T downstream_gene_variant BRCA-EU 1 117656002 117656002 single base substitution C T exon_variant BRCA-EU 1 117656002 117656002 single base substitution C T missense_variant A468T 1402G>A BRCA-EU 1 117656002 117656002 single base substitution C T missense_variant A507T 1519G>A BRCA-EU 1 117656002 117656002 single base substitution C T missense_variant A525T 1573G>A BRCA-EU 1 117656676 117656676 single base substitution T C downstream_gene_variant BRCA-EU 1 117656676 117656676 single base substitution T C intron_variant BRCA-EU 1 117657680 117657680 single base substitution T C downstream_gene_variant BRCA-EU 1 117657680 117657680 single base substitution T C intron_variant BRCA-EU 1 117658832 117658832 single base substitution G A downstream_gene_variant BRCA-EU 1 117658832 117658832 single base substitution G A intron_variant BRCA-EU 1 117658832 117658832 single base substitution G A upstream_gene_variant BRCA-EU 1 117659965 117659965 deletion of <=200bp G - downstream_gene_variant BRCA-EU 1 117659965 117659965 deletion of <=200bp G - intron_variant BRCA-EU 1 117659965 117659965 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 117660138 117660138 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 117660138 117660138 deletion of <=200bp T - intron_variant BRCA-EU 1 117660138 117660138 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 117661555 117661555 single base substitution T C intron_variant BRCA-EU 1 117661555 117661555 single base substitution T C upstream_gene_variant BRCA-EU 1 117661936 117661936 single base substitution G T intron_variant BRCA-EU 1 117661936 117661936 single base substitution G T upstream_gene_variant BRCA-EU 1 117662129 117662129 single base substitution T C intron_variant BRCA-EU 1 117662129 117662129 single base substitution T C upstream_gene_variant BRCA-EU 1 117662691 117662691 single base substitution C T intron_variant BRCA-EU 1 117662691 117662691 single base substitution C T upstream_gene_variant BRCA-EU 1 117662789 117662789 single base substitution G A intron_variant BRCA-EU 1 117662789 117662789 single base substitution G A upstream_gene_variant BRCA-EU 1 117664910 117664910 single base substitution C G 5_prime_UTR_variant BRCA-EU 1 117664910 117664910 single base substitution C G upstream_gene_variant BRCA-EU 1 117665020 117665020 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 117665020 117665020 single base substitution C T upstream_gene_variant BRCA-EU 1 117665026 117665026 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 117665026 117665026 single base substitution C T upstream_gene_variant BRCA-EU 1 117665481 117665481 single base substitution C T upstream_gene_variant BRCA-EU 1 117667735 117667735 single base substitution C G upstream_gene_variant BRCA-EU 1 117670119 117670119 single base substitution C T upstream_gene_variant BRCA-FR 1 117664910 117664910 single base substitution C G 5_prime_UTR_variant BRCA-FR 1 117664910 117664910 single base substitution C G upstream_gene_variant BRCA-FR 1 117665020 117665020 single base substitution C T 5_prime_UTR_variant BRCA-FR 1 117665020 117665020 single base substitution C T upstream_gene_variant BRCA-FR 1 117665026 117665026 single base substitution C T 5_prime_UTR_variant BRCA-FR 1 117665026 117665026 single base substitution C T upstream_gene_variant BRCA-FR 1 117667735 117667735 single base substitution C G upstream_gene_variant BRCA-FR 1 117670205 117670205 single base substitution G A upstream_gene_variant BRCA-US 1 117663630 117663630 single base substitution C G intron_variant BRCA-US 1 117663630 117663630 single base substitution C G missense_variant R65P 194G>C CESC-US 1 117660797 117660797 single base substitution G A stop_gained Q257* 769C>T CESC-US 1 117660797 117660797 single base substitution G A stop_gained Q304* 910C>T CESC-US 1 117660797 117660797 single base substitution G A stop_gained Q361* 1081C>T CESC-US 1 117660797 117660797 single base substitution G A upstream_gene_variant CESC-US 1 117663434 117663434 single base substitution G A synonymous_variant G130G 390C>T CESC-US 1 117663434 117663434 single base substitution G A synonymous_variant G26G 78C>T CESC-US 1 117663434 117663434 single base substitution G A synonymous_variant G73G 219C>T COAD-US 1 117655069 117655069 single base substitution T C exon_variant COAD-US 1 117655069 117655069 single base substitution T C missense_variant Y477C 1430A>G COAD-US 1 117655069 117655069 single base substitution T C missense_variant Y516C 1547A>G COAD-US 1 117655069 117655069 single base substitution T C missense_variant Y534C 1601A>G COAD-US 1 117655999 117655999 single base substitution A G downstream_gene_variant COAD-US 1 117655999 117655999 single base substitution A G exon_variant COAD-US 1 117655999 117655999 single base substitution A G missense_variant C469R 1405T>C COAD-US 1 117655999 117655999 single base substitution A G missense_variant C508R 1522T>C COAD-US 1 117655999 117655999 single base substitution A G missense_variant C526R 1576T>C COAD-US 1 117656011 117656011 single base substitution C T downstream_gene_variant COAD-US 1 117656011 117656011 single base substitution C T exon_variant COAD-US 1 117656011 117656011 single base substitution C T missense_variant A465T 1393G>A COAD-US 1 117656011 117656011 single base substitution C T missense_variant A504T 1510G>A COAD-US 1 117656011 117656011 single base substitution C T missense_variant A522T 1564G>A COAD-US 1 117656105 117656105 single base substitution G T downstream_gene_variant COAD-US 1 117656105 117656105 single base substitution G T splice_region_variant COAD-US 1 117658238 117658238 single base substitution C T downstream_gene_variant COAD-US 1 117658238 117658238 single base substitution C T missense_variant V419I 1255G>A COAD-US 1 117658238 117658238 single base substitution C T missense_variant V458I 1372G>A COAD-US 1 117658238 117658238 single base substitution C T missense_variant V476I 1426G>A COAD-US 1 117658238 117658238 single base substitution C T upstream_gene_variant COAD-US 1 117659339 117659339 single base substitution C T downstream_gene_variant COAD-US 1 117659339 117659339 single base substitution C T synonymous_variant T360T 1080G>A COAD-US 1 117659339 117659339 single base substitution C T synonymous_variant T399T 1197G>A COAD-US 1 117659339 117659339 single base substitution C T synonymous_variant T417T 1251G>A COAD-US 1 117659339 117659339 single base substitution C T upstream_gene_variant COAD-US 1 117660717 117660717 single base substitution T G missense_variant E283D 849A>C COAD-US 1 117660717 117660717 single base substitution T G missense_variant E330D 990A>C COAD-US 1 117660717 117660717 single base substitution T G missense_variant E387D 1161A>C COAD-US 1 117660717 117660717 single base substitution T G upstream_gene_variant COAD-US 1 117660884 117660884 single base substitution C T missense_variant E228K 682G>A COAD-US 1 117660884 117660884 single base substitution C T missense_variant E275K 823G>A COAD-US 1 117660884 117660884 single base substitution C T missense_variant E332K 994G>A COAD-US 1 117660884 117660884 single base substitution C T upstream_gene_variant COAD-US 1 117661060 117661060 single base substitution A T missense_variant V169E 506T>A COAD-US 1 117661060 117661060 single base substitution A T missense_variant V216E 647T>A COAD-US 1 117661060 117661060 single base substitution A T missense_variant V273E 818T>A COAD-US 1 117661060 117661060 single base substitution A T upstream_gene_variant COCA-CN 1 117660770 117660770 single base substitution C A missense_variant D266Y 796G>T COCA-CN 1 117660770 117660770 single base substitution C A missense_variant D313Y 937G>T COCA-CN 1 117660770 117660770 single base substitution C A missense_variant D370Y 1108G>T COCA-CN 1 117660770 117660770 single base substitution C A upstream_gene_variant COCA-CN 1 117661313 117661313 single base substitution T C missense_variant I132V 394A>G COCA-CN 1 117661313 117661313 single base substitution T C missense_variant I189V 565A>G COCA-CN 1 117661313 117661313 single base substitution T C missense_variant I85V 253A>G COCA-CN 1 117661313 117661313 single base substitution T C upstream_gene_variant COCA-CN 1 117663633 117663633 single base substitution A G intron_variant COCA-CN 1 117663633 117663633 single base substitution A G missense_variant I64T 191T>C COCA-CN 1 117669616 117669616 single base substitution T C upstream_gene_variant ESAD-UK 1 117650334 117650334 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 117650647 117650647 single base substitution A G downstream_gene_variant ESAD-UK 1 117654591 117654591 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 117654591 117654591 single base substitution A G downstream_gene_variant ESAD-UK 1 117654591 117654591 single base substitution A G intron_variant ESAD-UK 1 117655573 117655573 single base substitution C T intron_variant ESAD-UK 1 117657149 117657149 single base substitution G A downstream_gene_variant ESAD-UK 1 117657149 117657149 single base substitution G A intron_variant ESAD-UK 1 117657277 117657277 single base substitution T C downstream_gene_variant ESAD-UK 1 117657277 117657277 single base substitution T C intron_variant ESAD-UK 1 117659112 117659112 single base substitution C G downstream_gene_variant ESAD-UK 1 117659112 117659112 single base substitution C G intron_variant ESAD-UK 1 117659112 117659112 single base substitution C G upstream_gene_variant ESAD-UK 1 117660126 117660126 single base substitution T A downstream_gene_variant ESAD-UK 1 117660126 117660126 single base substitution T A intron_variant ESAD-UK 1 117660126 117660126 single base substitution T A upstream_gene_variant ESAD-UK 1 117660231 117660231 single base substitution G C downstream_gene_variant ESAD-UK 1 117660231 117660231 single base substitution G C intron_variant ESAD-UK 1 117660231 117660231 single base substitution G C upstream_gene_variant ESAD-UK 1 117661403 117661403 single base substitution G A intron_variant ESAD-UK 1 117661403 117661403 single base substitution G A upstream_gene_variant ESAD-UK 1 117663520 117663520 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 117663520 117663520 single base substitution C T missense_variant D102N 304G>A ESAD-UK 1 117663520 117663520 single base substitution C T missense_variant D45N 133G>A ESAD-UK 1 117666419 117666419 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 117666673 117666673 single base substitution A T upstream_gene_variant ESAD-UK 1 117668271 117668271 single base substitution G T upstream_gene_variant ESAD-UK 1 117668726 117668726 single base substitution T A upstream_gene_variant ESAD-UK 1 117668754 117668754 single base substitution C G upstream_gene_variant GBM-US 1 117663350 117663350 single base substitution G A synonymous_variant C101C 303C>T GBM-US 1 117663350 117663350 single base substitution G A synonymous_variant C158C 474C>T GBM-US 1 117663350 117663350 single base substitution G A synonymous_variant C54C 162C>T KIRC-US 1 117660996 117660996 single base substitution C T synonymous_variant K190K 570G>A KIRC-US 1 117660996 117660996 single base substitution C T synonymous_variant K237K 711G>A KIRC-US 1 117660996 117660996 single base substitution C T synonymous_variant K294K 882G>A KIRC-US 1 117660996 117660996 single base substitution C T upstream_gene_variant KIRC-US 1 117661045 117661045 single base substitution C T missense_variant R174Q 521G>A KIRC-US 1 117661045 117661045 single base substitution C T missense_variant R221Q 662G>A KIRC-US 1 117661045 117661045 single base substitution C T missense_variant R278Q 833G>A KIRC-US 1 117661045 117661045 single base substitution C T upstream_gene_variant KIRP-US 1 117660955 117660955 single base substitution T G missense_variant N204T 611A>C KIRP-US 1 117660955 117660955 single base substitution T G missense_variant N251T 752A>C KIRP-US 1 117660955 117660955 single base substitution T G missense_variant N308T 923A>C KIRP-US 1 117660955 117660955 single base substitution T G upstream_gene_variant LAML-KR 1 117669616 117669616 single base substitution T C upstream_gene_variant LICA-CN 1 117663590 117663590 single base substitution G A intron_variant LICA-CN 1 117663590 117663590 single base substitution G A splice_region_variant LICA-CN 1 117663590 117663590 single base substitution G A synonymous_variant F78F 234C>T LINC-JP 1 117659067 117659067 single base substitution C T downstream_gene_variant LINC-JP 1 117659067 117659067 single base substitution C T intron_variant LINC-JP 1 117659067 117659067 single base substitution C T upstream_gene_variant LINC-JP 1 117659379 117659379 insertion of <=200bp - A downstream_gene_variant LINC-JP 1 117659379 117659379 insertion of <=200bp - A intron_variant LINC-JP 1 117659379 117659379 insertion of <=200bp - A upstream_gene_variant LIRI-JP 1 117653635 117653635 insertion of <=200bp - G downstream_gene_variant LIRI-JP 1 117654627 117654627 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 117654627 117654627 single base substitution G A downstream_gene_variant LIRI-JP 1 117654627 117654627 single base substitution G A intron_variant LIRI-JP 1 117656136 117656136 single base substitution C T downstream_gene_variant LIRI-JP 1 117656136 117656136 single base substitution C T intron_variant LIRI-JP 1 117657972 117657972 single base substitution A G downstream_gene_variant LIRI-JP 1 117657972 117657972 single base substitution A G intron_variant LIRI-JP 1 117658190 117658190 insertion of <=200bp - G downstream_gene_variant LIRI-JP 1 117658190 117658190 insertion of <=200bp - G intron_variant LIRI-JP 1 117658190 117658190 insertion of <=200bp - G splice_region_variant LIRI-JP 1 117658232 117658232 single base substitution T G downstream_gene_variant LIRI-JP 1 117658232 117658232 single base substitution T G exon_variant LIRI-JP 1 117658232 117658232 single base substitution T G missense_variant T421P 1261A>C LIRI-JP 1 117658232 117658232 single base substitution T G missense_variant T460P 1378A>C LIRI-JP 1 117658232 117658232 single base substitution T G missense_variant T478P 1432A>C LIRI-JP 1 117661697 117661697 single base substitution C A intron_variant LIRI-JP 1 117661697 117661697 single base substitution C A upstream_gene_variant LIRI-JP 1 117661837 117661837 single base substitution T G intron_variant LIRI-JP 1 117661837 117661837 single base substitution T G upstream_gene_variant LIRI-JP 1 117667476 117667476 single base substitution C T upstream_gene_variant LIRI-JP 1 117668595 117668595 single base substitution T C upstream_gene_variant LUSC-KR 1 117651680 117651680 single base substitution G A downstream_gene_variant LUSC-KR 1 117654599 117654599 single base substitution T A 3_prime_UTR_variant LUSC-KR 1 117654599 117654599 single base substitution T A downstream_gene_variant LUSC-KR 1 117654599 117654599 single base substitution T A intron_variant LUSC-KR 1 117655157 117655157 single base substitution T G intron_variant LUSC-KR 1 117664425 117664425 single base substitution C G missense_variant R21P 62G>C LUSC-KR 1 117664425 117664425 single base substitution C G upstream_gene_variant LUSC-KR 1 117666280 117666280 single base substitution T C upstream_gene_variant LUSC-KR 1 117669616 117669616 single base substitution T C upstream_gene_variant LUSC-US 1 117654991 117654991 single base substitution G T exon_variant LUSC-US 1 117654991 117654991 single base substitution G T missense_variant S503Y 1508C>A LUSC-US 1 117654991 117654991 single base substitution G T missense_variant S542Y 1625C>A LUSC-US 1 117654991 117654991 single base substitution G T missense_variant S560Y 1679C>A LUSC-US 1 117660706 117660706 single base substitution G T missense_variant T287K 860C>A LUSC-US 1 117660706 117660706 single base substitution G T missense_variant T334K 1001C>A LUSC-US 1 117660706 117660706 single base substitution G T missense_variant T391K 1172C>A LUSC-US 1 117660706 117660706 single base substitution G T splice_region_variant LUSC-US 1 117660706 117660706 single base substitution G T upstream_gene_variant LUSC-US 1 117660749 117660749 single base substitution G C missense_variant Q273E 817C>G LUSC-US 1 117660749 117660749 single base substitution G C missense_variant Q320E 958C>G LUSC-US 1 117660749 117660749 single base substitution G C missense_variant Q377E 1129C>G LUSC-US 1 117660749 117660749 single base substitution G C upstream_gene_variant LUSC-US 1 117663382 117663382 single base substitution G T missense_variant Q148K 442C>A LUSC-US 1 117663382 117663382 single base substitution G T missense_variant Q44K 130C>A LUSC-US 1 117663382 117663382 single base substitution G T missense_variant Q91K 271C>A LUSC-US 1 117663389 117663389 single base substitution C G missense_variant K145N 435G>C LUSC-US 1 117663389 117663389 single base substitution C G missense_variant K41N 123G>C LUSC-US 1 117663389 117663389 single base substitution C G missense_variant K88N 264G>C MALY-DE 1 117653403 117653403 single base substitution A C downstream_gene_variant MALY-DE 1 117666129 117666129 single base substitution G T upstream_gene_variant MELA-AU 1 117649601 117649601 single base substitution T A downstream_gene_variant MELA-AU 1 117653250 117653250 single base substitution C A downstream_gene_variant MELA-AU 1 117653805 117653805 single base substitution C T 3_prime_UTR_variant MELA-AU 1 117653805 117653805 single base substitution C T downstream_gene_variant MELA-AU 1 117656012 117656012 single base substitution G A downstream_gene_variant MELA-AU 1 117656012 117656012 single base substitution G A exon_variant MELA-AU 1 117656012 117656012 single base substitution G A synonymous_variant T464T 1392C>T MELA-AU 1 117656012 117656012 single base substitution G A synonymous_variant T503T 1509C>T MELA-AU 1 117656012 117656012 single base substitution G A synonymous_variant T521T 1563C>T MELA-AU 1 117656068 117656068 single base substitution G A downstream_gene_variant MELA-AU 1 117656068 117656068 single base substitution G A exon_variant MELA-AU 1 117656068 117656068 single base substitution G A missense_variant P446S 1336C>T MELA-AU 1 117656068 117656068 single base substitution G A missense_variant P485S 1453C>T MELA-AU 1 117656068 117656068 single base substitution G A missense_variant P503S 1507C>T MELA-AU 1 117658007 117658007 single base substitution A T downstream_gene_variant MELA-AU 1 117658007 117658007 single base substitution A T intron_variant MELA-AU 1 117658248 117658248 single base substitution C T downstream_gene_variant MELA-AU 1 117658248 117658248 single base substitution C T synonymous_variant K415K 1245G>A MELA-AU 1 117658248 117658248 single base substitution C T synonymous_variant K454K 1362G>A MELA-AU 1 117658248 117658248 single base substitution C T synonymous_variant K472K 1416G>A MELA-AU 1 117658248 117658248 single base substitution C T upstream_gene_variant MELA-AU 1 117658762 117658762 single base substitution G A downstream_gene_variant MELA-AU 1 117658762 117658762 single base substitution G A intron_variant MELA-AU 1 117658762 117658762 single base substitution G A upstream_gene_variant MELA-AU 1 117659305 117659305 single base substitution C T downstream_gene_variant MELA-AU 1 117659305 117659305 single base substitution C T missense_variant G372R 1114G>A MELA-AU 1 117659305 117659305 single base substitution C T missense_variant G411R 1231G>A MELA-AU 1 117659305 117659305 single base substitution C T missense_variant G429R 1285G>A MELA-AU 1 117659305 117659305 single base substitution C T upstream_gene_variant MELA-AU 1 117660127 117660127 single base substitution A G downstream_gene_variant MELA-AU 1 117660127 117660127 single base substitution A G intron_variant MELA-AU 1 117660127 117660127 single base substitution A G upstream_gene_variant MELA-AU 1 117661046 117661046 single base substitution G A missense_variant R174W 520C>T MELA-AU 1 117661046 117661046 single base substitution G A missense_variant R221W 661C>T MELA-AU 1 117661046 117661046 single base substitution G A missense_variant R278W 832C>T MELA-AU 1 117661046 117661046 single base substitution G A upstream_gene_variant MELA-AU 1 117661716 117661716 single base substitution C T intron_variant MELA-AU 1 117661716 117661716 single base substitution C T upstream_gene_variant MELA-AU 1 117661820 117661820 single base substitution A G intron_variant MELA-AU 1 117661820 117661820 single base substitution A G upstream_gene_variant MELA-AU 1 117662281 117662281 single base substitution C T intron_variant MELA-AU 1 117662281 117662281 single base substitution C T upstream_gene_variant MELA-AU 1 117662775 117662775 single base substitution A G intron_variant MELA-AU 1 117662775 117662775 single base substitution A G upstream_gene_variant MELA-AU 1 117662804 117662804 single base substitution C G intron_variant MELA-AU 1 117662804 117662804 single base substitution C G upstream_gene_variant MELA-AU 1 117663394 117663394 single base substitution C T missense_variant E144K 430G>A MELA-AU 1 117663394 117663394 single base substitution C T missense_variant E40K 118G>A MELA-AU 1 117663394 117663394 single base substitution C T missense_variant E87K 259G>A MELA-AU 1 117663893 117663893 single base substitution A G 5_prime_UTR_variant MELA-AU 1 117663893 117663893 single base substitution A G intron_variant MELA-AU 1 117664222 117664223 multiple base substitution (>=2bp and <=200bp) CC AT 5_prime_UTR_variant MELA-AU 1 117664222 117664223 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 117664499 117664500 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 1 117664499 117664500 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 117664504 117664504 single base substitution T A 5_prime_UTR_variant MELA-AU 1 117664504 117664504 single base substitution T A upstream_gene_variant MELA-AU 1 117664539 117664539 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 117664539 117664539 single base substitution G A upstream_gene_variant MELA-AU 1 117664832 117664832 single base substitution C T 5_prime_UTR_variant MELA-AU 1 117664832 117664832 single base substitution C T upstream_gene_variant MELA-AU 1 117665680 117665680 single base substitution C T upstream_gene_variant MELA-AU 1 117665793 117665793 single base substitution T C upstream_gene_variant MELA-AU 1 117666315 117666315 single base substitution G A upstream_gene_variant MELA-AU 1 117666523 117666523 single base substitution G A upstream_gene_variant MELA-AU 1 117666799 117666799 single base substitution C T upstream_gene_variant MELA-AU 1 117666908 117666908 single base substitution C T upstream_gene_variant MELA-AU 1 117666988 117666988 single base substitution C A upstream_gene_variant MELA-AU 1 117667111 117667111 single base substitution C T upstream_gene_variant MELA-AU 1 117667572 117667572 single base substitution C T upstream_gene_variant MELA-AU 1 117667804 117667804 single base substitution T C upstream_gene_variant MELA-AU 1 117668281 117668281 single base substitution G A upstream_gene_variant MELA-AU 1 117668293 117668293 single base substitution C T upstream_gene_variant MELA-AU 1 117668346 117668346 single base substitution G T upstream_gene_variant MELA-AU 1 117668453 117668453 single base substitution G A upstream_gene_variant MELA-AU 1 117668483 117668483 single base substitution G A upstream_gene_variant MELA-AU 1 117668519 117668519 single base substitution T G upstream_gene_variant MELA-AU 1 117668593 117668593 single base substitution C A upstream_gene_variant MELA-AU 1 117668609 117668609 single base substitution C T upstream_gene_variant MELA-AU 1 117668641 117668641 single base substitution C T upstream_gene_variant MELA-AU 1 117668656 117668656 single base substitution G A upstream_gene_variant MELA-AU 1 117668947 117668947 single base substitution G A upstream_gene_variant MELA-AU 1 117669322 117669322 single base substitution G A upstream_gene_variant MELA-AU 1 117669606 117669606 single base substitution C T upstream_gene_variant MELA-AU 1 117669619 117669619 single base substitution T C upstream_gene_variant MELA-AU 1 117669817 117669817 single base substitution C T upstream_gene_variant MELA-AU 1 117669844 117669844 single base substitution G A upstream_gene_variant MELA-AU 1 117669954 117669954 single base substitution C T upstream_gene_variant MELA-AU 1 117669966 117669966 single base substitution C T upstream_gene_variant MELA-AU 1 117670053 117670053 single base substitution C T upstream_gene_variant MELA-AU 1 117670152 117670152 single base substitution G A upstream_gene_variant ORCA-IN 1 117660803 117660803 single base substitution T A stop_gained K255* 763A>T ORCA-IN 1 117660803 117660803 single base substitution T A stop_gained K302* 904A>T ORCA-IN 1 117660803 117660803 single base substitution T A stop_gained K359* 1075A>T ORCA-IN 1 117660803 117660803 single base substitution T A upstream_gene_variant ORCA-IN 1 117666165 117666165 single base substitution G A upstream_gene_variant OV-AU 1 117649850 117649850 single base substitution A T downstream_gene_variant OV-AU 1 117651044 117651044 single base substitution G A downstream_gene_variant OV-AU 1 117653178 117653178 single base substitution T A downstream_gene_variant OV-AU 1 117653843 117653843 single base substitution G A 3_prime_UTR_variant OV-AU 1 117653843 117653843 single base substitution G A downstream_gene_variant OV-AU 1 117653843 117653843 single base substitution G A intron_variant OV-AU 1 117655206 117655206 single base substitution G C intron_variant OV-AU 1 117663463 117663463 single base substitution C T missense_variant V121M 361G>A OV-AU 1 117663463 117663463 single base substitution C T missense_variant V17M 49G>A OV-AU 1 117663463 117663463 single base substitution C T missense_variant V64M 190G>A OV-AU 1 117664506 117664506 single base substitution C T 5_prime_UTR_variant OV-AU 1 117664506 117664506 single base substitution C T upstream_gene_variant OV-AU 1 117665386 117665386 single base substitution C T upstream_gene_variant PACA-AU 1 117658069 117658069 single base substitution C G downstream_gene_variant PACA-AU 1 117658069 117658069 single base substitution C G intron_variant PACA-AU 1 117667197 117667197 single base substitution C T upstream_gene_variant PACA-AU 1 117670013 117670013 single base substitution G A upstream_gene_variant PACA-CA 1 117649751 117649751 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 117650636 117650636 deletion of <=200bp C - downstream_gene_variant PACA-CA 1 117653723 117653723 single base substitution C A 3_prime_UTR_variant PACA-CA 1 117653723 117653723 single base substitution C A downstream_gene_variant PACA-CA 1 117654135 117654135 single base substitution C G 3_prime_UTR_variant PACA-CA 1 117654135 117654135 single base substitution C G downstream_gene_variant PACA-CA 1 117654135 117654135 single base substitution C G intron_variant PACA-CA 1 117658238 117658238 single base substitution C T downstream_gene_variant PACA-CA 1 117658238 117658238 single base substitution C T missense_variant V419I 1255G>A PACA-CA 1 117658238 117658238 single base substitution C T missense_variant V458I 1372G>A PACA-CA 1 117658238 117658238 single base substitution C T missense_variant V476I 1426G>A PACA-CA 1 117658238 117658238 single base substitution C T upstream_gene_variant PACA-CA 1 117661261 117661261 single base substitution C T missense_variant C102Y 305G>A PACA-CA 1 117661261 117661261 single base substitution C T missense_variant C149Y 446G>A PACA-CA 1 117661261 117661261 single base substitution C T missense_variant C206Y 617G>A PACA-CA 1 117661261 117661261 single base substitution C T upstream_gene_variant PACA-CA 1 117662003 117662003 single base substitution G A intron_variant PACA-CA 1 117662003 117662003 single base substitution G A upstream_gene_variant PACA-CA 1 117663802 117663802 single base substitution G T intron_variant PACA-CA 1 117663802 117663802 single base substitution G T missense_variant L8M 22C>A PACA-CA 1 117664362 117664364 deletion of <=200bp GGG - 5_prime_UTR_variant PACA-CA 1 117664362 117664364 deletion of <=200bp GGG - intron_variant PACA-CA 1 117664362 117664364 deletion of <=200bp GGG - upstream_gene_variant PACA-CA 1 117664366 117664382 deletion of <=200bp TCTGGCCCCTCCTCACA - 5_prime_UTR_variant PACA-CA 1 117664366 117664382 deletion of <=200bp TCTGGCCCCTCCTCACA - intron_variant PACA-CA 1 117664366 117664382 deletion of <=200bp TCTGGCCCCTCCTCACA - upstream_gene_variant PACA-CA 1 117666862 117666862 single base substitution G A upstream_gene_variant PACA-CA 1 117667438 117667438 single base substitution C T upstream_gene_variant PACA-CA 1 117669619 117669619 single base substitution T C upstream_gene_variant PACA-CA 1 117669789 117669789 single base substitution C A upstream_gene_variant PAEN-IT 1 117656935 117656935 single base substitution A C downstream_gene_variant PAEN-IT 1 117656935 117656935 single base substitution A C intron_variant PBCA-DE 1 117662232 117662232 insertion of <=200bp - A intron_variant PBCA-DE 1 117662232 117662232 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 117664526 117664526 single base substitution T C 5_prime_UTR_variant PBCA-DE 1 117664526 117664526 single base substitution T C upstream_gene_variant PBCA-DE 1 117669239 117669239 single base substitution C A upstream_gene_variant PRAD-CA 1 117654422 117654422 single base substitution T C 3_prime_UTR_variant PRAD-CA 1 117654422 117654422 single base substitution T C downstream_gene_variant PRAD-CA 1 117654422 117654422 single base substitution T C intron_variant PRAD-CA 1 117661708 117661708 single base substitution G C intron_variant PRAD-CA 1 117661708 117661708 single base substitution G C upstream_gene_variant PRAD-CA 1 117662380 117662380 single base substitution T C intron_variant PRAD-CA 1 117662380 117662380 single base substitution T C upstream_gene_variant PRAD-CA 1 117665679 117665679 single base substitution A C upstream_gene_variant PRAD-UK 1 117654441 117654441 single base substitution G A 3_prime_UTR_variant PRAD-UK 1 117654441 117654441 single base substitution G A downstream_gene_variant PRAD-UK 1 117654441 117654441 single base substitution G A intron_variant PRAD-US 1 117661174 117661174 single base substitution C A missense_variant G131V 392G>T PRAD-US 1 117661174 117661174 single base substitution C A missense_variant G178V 533G>T PRAD-US 1 117661174 117661174 single base substitution C A missense_variant G235V 704G>T PRAD-US 1 117661174 117661174 single base substitution C A upstream_gene_variant RECA-EU 1 117648763 117648763 single base substitution A T downstream_gene_variant RECA-EU 1 117659590 117659590 single base substitution C T downstream_gene_variant RECA-EU 1 117659590 117659590 single base substitution C T intron_variant RECA-EU 1 117659590 117659590 single base substitution C T upstream_gene_variant RECA-EU 1 117662121 117662121 single base substitution G A intron_variant RECA-EU 1 117662121 117662121 single base substitution G A upstream_gene_variant RECA-EU 1 117665410 117665410 single base substitution C T upstream_gene_variant SKCA-BR 1 117649634 117649634 single base substitution C T downstream_gene_variant SKCA-BR 1 117651479 117651479 single base substitution C T downstream_gene_variant SKCA-BR 1 117653018 117653018 single base substitution T C downstream_gene_variant SKCA-BR 1 117653282 117653282 single base substitution A G downstream_gene_variant SKCA-BR 1 117655000 117655000 single base substitution T A exon_variant SKCA-BR 1 117655000 117655000 single base substitution T A missense_variant N500I 1499A>T SKCA-BR 1 117655000 117655000 single base substitution T A missense_variant N539I 1616A>T SKCA-BR 1 117655000 117655000 single base substitution T A missense_variant N557I 1670A>T SKCA-BR 1 117655537 117655537 single base substitution C T intron_variant SKCA-BR 1 117660351 117660351 single base substitution C T downstream_gene_variant SKCA-BR 1 117660351 117660351 single base substitution C T intron_variant SKCA-BR 1 117660351 117660351 single base substitution C T upstream_gene_variant SKCA-BR 1 117662021 117662021 single base substitution A G intron_variant SKCA-BR 1 117662021 117662021 single base substitution A G upstream_gene_variant SKCA-BR 1 117669613 117669613 insertion of <=200bp - CTCTTCTTCTTCTTCT upstream_gene_variant SKCA-BR 1 117669613 117669619 deletion of <=200bp CTCTTCT - upstream_gene_variant SKCA-BR 1 117669616 117669616 single base substitution T C upstream_gene_variant SKCA-BR 1 117669617 117669617 single base substitution T C upstream_gene_variant SKCM-US 1 117654930 117654930 single base substitution G A exon_variant SKCM-US 1 117654930 117654930 single base substitution G A synonymous_variant L523L 1569C>T SKCM-US 1 117654930 117654930 single base substitution G A synonymous_variant L562L 1686C>T SKCM-US 1 117654930 117654930 single base substitution G A synonymous_variant L580L 1740C>T SKCM-US 1 117658248 117658248 single base substitution C T downstream_gene_variant SKCM-US 1 117658248 117658248 single base substitution C T synonymous_variant K415K 1245G>A SKCM-US 1 117658248 117658248 single base substitution C T synonymous_variant K454K 1362G>A SKCM-US 1 117658248 117658248 single base substitution C T synonymous_variant K472K 1416G>A SKCM-US 1 117658248 117658248 single base substitution C T upstream_gene_variant SKCM-US 1 117660703 117660703 single base substitution A T missense_variant I288N 863T>A SKCM-US 1 117660703 117660703 single base substitution A T missense_variant I335N 1004T>A SKCM-US 1 117660703 117660703 single base substitution A T missense_variant I392N 1175T>A SKCM-US 1 117660703 117660703 single base substitution A T splice_region_variant SKCM-US 1 117660703 117660703 single base substitution A T upstream_gene_variant SKCM-US 1 117660782 117660782 single base substitution G A missense_variant P262S 784C>T SKCM-US 1 117660782 117660782 single base substitution G A missense_variant P309S 925C>T SKCM-US 1 117660782 117660782 single base substitution G A missense_variant P366S 1096C>T SKCM-US 1 117660782 117660782 single base substitution G A upstream_gene_variant SKCM-US 1 117661046 117661046 single base substitution G A missense_variant R174W 520C>T SKCM-US 1 117661046 117661046 single base substitution G A missense_variant R221W 661C>T SKCM-US 1 117661046 117661046 single base substitution G A missense_variant R278W 832C>T SKCM-US 1 117661046 117661046 single base substitution G A upstream_gene_variant SKCM-US 1 117661263 117661263 single base substitution G T missense_variant F101L 303C>A SKCM-US 1 117661263 117661263 single base substitution G T missense_variant F148L 444C>A SKCM-US 1 117661263 117661263 single base substitution G T missense_variant F205L 615C>A SKCM-US 1 117661263 117661263 single base substitution G T upstream_gene_variant SKCM-US 1 117663645 117663645 single base substitution G A intron_variant SKCM-US 1 117663645 117663645 single base substitution G A missense_variant S60L 179C>T STAD-US 1 117656011 117656011 single base substitution C T downstream_gene_variant STAD-US 1 117656011 117656011 single base substitution C T exon_variant STAD-US 1 117656011 117656011 single base substitution C T missense_variant A465T 1393G>A STAD-US 1 117656011 117656011 single base substitution C T missense_variant A504T 1510G>A STAD-US 1 117656011 117656011 single base substitution C T missense_variant A522T 1564G>A STAD-US 1 117656056 117656056 single base substitution C T downstream_gene_variant STAD-US 1 117656056 117656056 single base substitution C T exon_variant STAD-US 1 117656056 117656056 single base substitution C T missense_variant V450M 1348G>A STAD-US 1 117656056 117656056 single base substitution C T missense_variant V489M 1465G>A STAD-US 1 117656056 117656056 single base substitution C T missense_variant V507M 1519G>A STAD-US 1 117656107 117656107 single base substitution C A downstream_gene_variant STAD-US 1 117656107 117656107 single base substitution C A missense_variant G433C 1297G>T STAD-US 1 117656107 117656107 single base substitution C A missense_variant G472C 1414G>T STAD-US 1 117656107 117656107 single base substitution C A missense_variant G490C 1468G>T STAD-US 1 117656107 117656107 single base substitution C A splice_region_variant STAD-US 1 117658232 117658232 single base substitution T C downstream_gene_variant STAD-US 1 117658232 117658232 single base substitution T C exon_variant STAD-US 1 117658232 117658232 single base substitution T C missense_variant T421A 1261A>G STAD-US 1 117658232 117658232 single base substitution T C missense_variant T460A 1378A>G STAD-US 1 117658232 117658232 single base substitution T C missense_variant T478A 1432A>G STAD-US 1 117659307 117659307 single base substitution G A downstream_gene_variant STAD-US 1 117659307 117659307 single base substitution G A missense_variant A371V 1112C>T STAD-US 1 117659307 117659307 single base substitution G A missense_variant A410V 1229C>T STAD-US 1 117659307 117659307 single base substitution G A missense_variant A428V 1283C>T STAD-US 1 117659307 117659307 single base substitution G A upstream_gene_variant STAD-US 1 117659354 117659354 single base substitution G A downstream_gene_variant STAD-US 1 117659354 117659354 single base substitution G A synonymous_variant A355A 1065C>T STAD-US 1 117659354 117659354 single base substitution G A synonymous_variant A394A 1182C>T STAD-US 1 117659354 117659354 single base substitution G A synonymous_variant A412A 1236C>T STAD-US 1 117659354 117659354 single base substitution G A upstream_gene_variant STAD-US 1 117660760 117660760 single base substitution C T missense_variant R269H 806G>A STAD-US 1 117660760 117660760 single base substitution C T missense_variant R316H 947G>A STAD-US 1 117660760 117660760 single base substitution C T missense_variant R373H 1118G>A STAD-US 1 117660760 117660760 single base substitution C T upstream_gene_variant STAD-US 1 117661186 117661186 single base substitution A T missense_variant I127N 380T>A STAD-US 1 117661186 117661186 single base substitution A T missense_variant I174N 521T>A STAD-US 1 117661186 117661186 single base substitution A T missense_variant I231N 692T>A STAD-US 1 117661186 117661186 single base substitution A T upstream_gene_variant STAD-US 1 117661189 117661189 single base substitution A G missense_variant V126A 377T>C STAD-US 1 117661189 117661189 single base substitution A G missense_variant V173A 518T>C STAD-US 1 117661189 117661189 single base substitution A G missense_variant V230A 689T>C STAD-US 1 117661189 117661189 single base substitution A G upstream_gene_variant STAD-US 1 117663484 117663484 single base substitution C T missense_variant D10N 28G>A STAD-US 1 117663484 117663484 single base substitution C T missense_variant D114N 340G>A STAD-US 1 117663484 117663484 single base substitution C T missense_variant D57N 169G>A STAD-US 1 117663624 117663624 deletion of <=200bp C - frameshift_variant G67 STAD-US 1 117663624 117663624 deletion of <=200bp C - intron_variant THCA-SA 1 117654858 117654858 single base substitution G A 3_prime_UTR_variant THCA-SA 1 117656088 117656088 single base substitution A G downstream_gene_variant THCA-SA 1 117656088 117656088 single base substitution A G exon_variant THCA-SA 1 117656088 117656088 single base substitution A G missense_variant M439T 1316T>C THCA-SA 1 117656088 117656088 single base substitution A G missense_variant M478T 1433T>C THCA-SA 1 117656088 117656088 single base substitution A G missense_variant M496T 1487T>C THCA-SA 1 117663742 117663742 single base substitution G A intron_variant THCA-SA 1 117663742 117663742 single base substitution G A missense_variant H28Y 82C>T UCEC-US 1 117658309 117658309 single base substitution G C downstream_gene_variant UCEC-US 1 117658309 117658309 single base substitution G C missense_variant P395R 1184C>G UCEC-US 1 117658309 117658309 single base substitution G C missense_variant P434R 1301C>G UCEC-US 1 117658309 117658309 single base substitution G C missense_variant P452R 1355C>G UCEC-US 1 117658309 117658309 single base substitution G C upstream_gene_variant UCEC-US 1 117659238 117659238 single base substitution C A downstream_gene_variant UCEC-US 1 117659238 117659238 single base substitution C A missense_variant S394I 1181G>T UCEC-US 1 117659238 117659238 single base substitution C A missense_variant S433I 1298G>T UCEC-US 1 117659238 117659238 single base substitution C A missense_variant S451I 1352G>T UCEC-US 1 117659238 117659238 single base substitution C A upstream_gene_variant UCEC-US 1 117659263 117659263 single base substitution C T downstream_gene_variant UCEC-US 1 117659263 117659263 single base substitution C T missense_variant V386I 1156G>A UCEC-US 1 117659263 117659263 single base substitution C T missense_variant V425I 1273G>A UCEC-US 1 117659263 117659263 single base substitution C T missense_variant V443I 1327G>A UCEC-US 1 117659263 117659263 single base substitution C T upstream_gene_variant UCEC-US 1 117659366 117659366 single base substitution G A downstream_gene_variant UCEC-US 1 117659366 117659366 single base substitution G A splice_region_variant UCEC-US 1 117659366 117659366 single base substitution G A upstream_gene_variant UCEC-US 1 117660749 117660751 deletion of <=200bp GAG - disruptive_inframe_deletion PQ272Q UCEC-US 1 117660749 117660751 deletion of <=200bp GAG - disruptive_inframe_deletion PQ319Q UCEC-US 1 117660749 117660751 deletion of <=200bp GAG - disruptive_inframe_deletion PQ376Q UCEC-US 1 117660749 117660751 deletion of <=200bp GAG - upstream_gene_variant UCEC-US 1 117661072 117661072 single base substitution C T missense_variant R165Q 494G>A UCEC-US 1 117661072 117661072 single base substitution C T missense_variant R212Q 635G>A UCEC-US 1 117661072 117661072 single base substitution C T missense_variant R269Q 806G>A UCEC-US 1 117661072 117661072 single base substitution C T upstream_gene_variant UCEC-US 1 117661118 117661118 single base substitution C T missense_variant E150K 448G>A UCEC-US 1 117661118 117661118 single base substitution C T missense_variant E197K 589G>A UCEC-US 1 117661118 117661118 single base substitution C T missense_variant E254K 760G>A UCEC-US 1 117661118 117661118 single base substitution C T upstream_gene_variant UCEC-US 1 117661185 117661185 single base substitution G T synonymous_variant I127I 381C>A UCEC-US 1 117661185 117661185 single base substitution G T synonymous_variant I174I 522C>A UCEC-US 1 117661185 117661185 single base substitution G T synonymous_variant I231I 693C>A UCEC-US 1 117661185 117661185 single base substitution G T upstream_gene_variant UCEC-US 1 117663431 117663431 single base substitution C A missense_variant Q131H 393G>T UCEC-US 1 117663431 117663431 single base substitution C A missense_variant Q27H 81G>T UCEC-US 1 117663431 117663431 single base substitution C A missense_variant Q74H 222G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-S01346 COSM397611 c.29G>C p.G10A Substitution - Missense 1:117121173-117121173 - TCGA-CZ-5452-01 COSM462711 c.833G>A p.R278Q Substitution - Missense 1:117118423-117118423 - TCGA-IR-A3LL-01 COSM4849852 c.390C>T p.G130G Substitution - coding silent 1:117120812-117120812 - TCGA-G4-6588-01 COSM1333120 c.1601A>G p.Y534C Substitution - Missense 1:117112447-117112447 - TCGA-D1-A17Q-01 COSM229878 c.760G>A p.E254K Substitution - Missense 1:117118496-117118496 - NB2181 COSM5703341 c.59C>A p.A20E Substitution - Missense 1:117121143-117121143 - TCGA-85-6561-01 COSM675111 c.1172C>A p.T391K Substitution - Missense 1:117118084-117118084 - WT010 COSM5351791 c.1487T>C p.M496T Substitution - Missense 1:117113466-117113466 - TCGA-G4-6625-01 COSM1333123 c.1470C>A p.G490G Substitution - coding silent 1:117113483-117113483 - Gp5D COSM2178881 c.31T>C p.F11L Substitution - Missense 1:117121171-117121171 - TCGA-CM-4743-01 COSM1333121 c.1576T>C p.C526R Substitution - Missense 1:117113377-117113377 - TCGA-D3-A3MR-06 COSM2178861 c.1096C>T p.P366S Substitution - Missense 1:117118160-117118160 - ME049T COSM229878 c.760G>A p.E254K Substitution - Missense 1:117118496-117118496 - TCGA-AA-3684-01 COSM293168 c.561G>A p.K187K Substitution - coding silent 1:117118695-117118695 - TCGA-EJ-5504-01 COSM1127455 c.704G>T p.G235V Substitution - Missense 1:117118552-117118552 - TCGA-B5-A11X-01 COSM894501 c.1249A>G p.T417A Substitution - Missense 1:117116719-117116719 - SNU-C2B COSM2178859 c.1149C>T p.C383C Substitution - coding silent 1:117118107-117118107 - TCGA-BR-4292-01 COSM4021122 c.689T>C p.V230A Substitution - Missense 1:117118567-117118567 - TCGA-BR-6452-01 COSM4021121 c.692T>A p.I231N Substitution - Missense 1:117118564-117118564 - TCGA-CG-5721-01 COSM4021117 c.1432A>G p.T478A Substitution - Missense 1:117115610-117115610 - TCGA-39-5022-01 COSM675110 c.1129C>G p.Q377E Substitution - Missense 1:117118127-117118127 - TCGA-F1-6874-01 COSM4021116 c.1468G>T p.G490C Substitution - Missense 1:117113485-117113485 - TCGA-D5-6537-01 COSM1333127 c.1251G>A p.T417T Substitution - coding silent 1:117116717-117116717 - TCGA-DM-A28K-01 COSM1333124 c.1426G>A p.V476I Substitution - Missense 1:117115616-117115616 - LUAD-LC15C COSM341807 c.659G>A p.R220Q Substitution - Missense 1:117118597-117118597 - TCGA-39-5031-01 COSM675112 c.1679C>A p.S560Y Substitution - Missense 1:117112369-117112369 - OSCC-GB_00410111 COSM3710033 c.1075A>T p.K359* Substitution - Nonsense 1:117118181-117118181 - TCGA-AB-2952-03 COSM1317699 c.481G>A p.A161T Substitution - Missense 1:117120721-117120721 - TCGA-AX-A063-01 COSM894498 c.1355C>G p.P452R Substitution - Missense 1:117115687-117115687 - PTC_212 COSM5958265 c.82C>T p.H28Y Substitution - Missense 1:117121120-117121120 - TCGA-AX-A0J1-01 COSM894499 c.1352G>T p.S451I Substitution - Missense 1:117116616-117116616 - TCGA-AP-A059-01 COSM894500 c.1327G>A p.V443I Substitution - Missense 1:117116641-117116641 - YUKLAB COSM1688385 c.877G>A p.D293N Substitution - Missense 1:117118379-117118379 - PCSI_0175_Pa_P_526 COSM1333124 c.1426G>A p.V476I Substitution - Missense 1:117115616-117115616 - RK002_C COSM1626342 c.1432A>C p.T478P Substitution - Missense 1:117115610-117115610 - SA071 COSM214177 c.730G>A p.G244S Substitution - Missense 1:117118526-117118526 - TCGA-AP-A051-01 COSM894506 c.393G>T p.Q131H Substitution - Missense 1:117120809-117120809 - LUAD-YINHD COSM349735 c.108C>T p.F36F Substitution - coding silent 1:117121094-117121094 - B86-Tumor COSM3930294 c.1742G>C p.*581S Nonstop extension 1:117112306-117112306 - 169 COSM3728543 c.570G>A p.L190L Substitution - coding silent 1:117118686-117118686 - TCGA-AP-A059-01 COSM894502 c.1224C>T p.D408D Substitution - coding silent 1:117116744-117116744 - TCGA-18-3409-01 COSM675109 c.442C>A p.Q148K Substitution - Missense 1:117120760-117120760 - TCGA-G9-6342-01 COSM3671360 c.993C>A p.T331T Substitution - coding silent 1:117118263-117118263 - Pat_41_B COSM5843197 c.1697G>A p.G566D Substitution - Missense 1:117112351-117112351 - RK170_C01 COSM1626341 c.1467+7_1467+8insC p.? Unknown 1:117115567-117115568 - SNUH_G76_S1 COSM4416282 c.1238G>A p.R413Q Substitution - Missense 1:117116730-117116730 - TCGA-D3-A5GU-06 COSM3471969 c.1740C>T p.L580L Substitution - coding silent 1:117112308-117112308 - SS6003149 COSM4127561 c.304G>A p.D102N Substitution - Missense 1:117120898-117120898 - AA1924 COSM4168981 c.615C>G p.F205L Substitution - Missense 1:117118641-117118641 - TCGA-CD-5801-01 COSM1333122 c.1564G>A p.A522T Substitution - Missense 1:117113389-117113389 - S0021 COSM5881492 c.856A>C p.K286Q Substitution - Missense 1:117118400-117118400 - PCSI_0303_Pa_P_526 COSM3849219 c.617G>A p.C206Y Substitution - Missense 1:117118639-117118639 - TCGA-HJ-7597-01 COSM4021120 c.1118G>A p.R373H Substitution - Missense 1:117118138-117118138 - Pat_41_B COSM5843198 c.1199C>T p.A400V Substitution - Missense 1:117118057-117118057 - Pat_45_B COSM5843199 c.542G>A p.G181D Substitution - Missense 1:117118714-117118714 - AOCS-088-3-8 COSM4004728 c.361G>A p.V121M Substitution - Missense 1:117120841-117120841 - Pat_41_B COSM5843200 c.74G>A p.G25D Substitution - Missense 1:117121128-117121128 - MO_1337 COSM5128312 c.842C>T p.S281L Substitution - Missense 1:117118414-117118414 - TCGA-BR-8680-01 COSM4021119 c.1236C>T p.A412A Substitution - coding silent 1:117116732-117116732 - TCGA-F4-6570-01 COSM1333130 c.818T>A p.V273E Substitution - Missense 1:117118438-117118438 - LC_C9 COSM1185557 c.1090A>T p.T364S Substitution - Missense 1:117118166-117118166 - TCGA-F1-6177-01 COSM4021118 c.1283C>T p.A428V Substitution - Missense 1:117116685-117116685 - TCGA-HU-A4G8-01 COSM4021115 c.1519G>A p.V507M Substitution - Missense 1:117113434-117113434 - Br15X COSM39755 c.1353C>G p.S451R Substitution - Missense 1:117115689-117115689 - GC_357T-GC_357N COSM4774035 c.1704G>T p.Q568H Substitution - Missense 1:117112344-117112344 - TCGA-22-5477-01 COSM675108 c.435G>C p.K145N Substitution - Missense 1:117120767-117120767 - TCGA-B0-4819-01 COSM3360247 c.882G>A p.K294K Substitution - coding silent 1:117118374-117118374 - TCGA-EE-A29E-06 COSM3471973 c.179C>T p.S60L Substitution - Missense 1:117121023-117121023 - TCGA-EE-A3AA-06 COSM2178872 c.832C>T p.R278W Substitution - Missense 1:117118424-117118424 - TCGA-HU-A4H8-01 COSM4021123 c.340G>A p.D114N Substitution - Missense 1:117120862-117120862 - TCGA-BS-A0UM-01 COSM894503 c.1127_1129delCTC p.P376delP Deletion - In frame 1:117118127-117118129 - ICC003T COSM5823370 c.234C>T p.F78F Substitution - coding silent 1:117120968-117120968 - PT53 COSM5941172 c.1013G>A p.G338D Substitution - Missense 1:117118243-117118243 - TCGA-CA-6717-01 COSM1333129 c.994G>A p.E332K Substitution - Missense 1:117118262-117118262 - TCGA-A5-A0VP-01 COSM894504 c.806G>A p.R269Q Substitution - Missense 1:117118450-117118450 - PT53 COSM5941173 c.1012G>A p.G338S Substitution - Missense 1:117118244-117118244 - TCGA-EE-A3AA-06 COSM3471970 c.1416G>A p.K472K Substitution - coding silent 1:117115626-117115626 - T3091 COSM4736115 c.622C>T p.R208W Substitution - Missense 1:117118634-117118634 - TCGA-Q1-A73P-01 COSM4825838 c.1081C>T p.Q361* Substitution - Nonsense 1:117118175-117118175 - TCGA-28-5213-01 COSM3399584 c.474C>T p.C158C Substitution - coding silent 1:117120728-117120728 - 2217537 COSM4422070 c.1517G>T p.G506V Substitution - Missense 1:117113436-117113436 - 587376 COSM1230342 c.1117C>T p.R373C Substitution - Missense 1:117118139-117118139 - TCGA-EE-A2GP-06 COSM3471972 c.615C>A p.F205L Substitution - Missense 1:117118641-117118641 - TCGA-IZ-A6M8-01 COSM3984132 c.923A>C p.N308T Substitution - Missense 1:117118333-117118333 - ESO-173 COSM1268543 c.1425C>T p.G475G Substitution - coding silent 1:117115617-117115617 - 587342 COSM1230341 c.1222+1G>A p.? Unknown 1:117118033-117118033 - RK002_C01 COSM1626342 c.1432A>C p.T478P Substitution - Missense 1:117115610-117115610 - TCGA-AP-A051-01 COSM894505 c.693C>A p.I231I Substitution - coding silent 1:117118563-117118563 - Gp2D COSM2178881 c.31T>C p.F11L Substitution - Missense 1:117121171-117121171 - LUAD-F00257 COSM340137 c.625C>T p.P209S Substitution - Missense 1:117118631-117118631 - TCGA-BT-A3PH-01 COSM1294789 c.1525C>T p.H509Y Substitution - Missense 1:117113428-117113428 - GB07 COSM1744619 c.263C>A p.S88* Substitution - Nonsense 1:117120939-117120939 - ESO-859 COSM1240518 c.608G>A p.C203Y Substitution - Missense 1:117118648-117118648 - SJDES006 COSM4576161 c.1047G>T p.V349V Substitution - coding silent 1:117118209-117118209 - TCGA-AD-6895-01 COSM1333122 c.1564G>A p.A522T Substitution - Missense 1:117113389-117113389 - 12-P8001 COSM4576160 c.1650G>C p.W550C Substitution - Missense 1:117112398-117112398 - TCGA-AR-A1AK-01 COSM423571 c.194G>C p.R65P Substitution - Missense 1:117121008-117121008 - TCGA-EE-A180-06 COSM3471971 c.1175T>A p.I392N Substitution - Missense 1:117118081-117118081 - 41T COSM3710033 c.1075A>T p.K359* Substitution - Nonsense 1:117118181-117118181 - 251 COSM1741829 c.1219G>A p.E407K Substitution - Missense 1:117118037-117118037 - TCGA-CM-5349-01 COSM1333128 c.1161A>C p.E387D Substitution - Missense 1:117118095-117118095 - I2L-P7-Tumor-Organoid COSM5353637 c.437G>A p.R146K Substitution - Missense 1:117120765-117120765 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.301526 1p13.1 609318

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.V230A c.689T>C 1 117661189 STAD A T Missense p.I392N c.1175T>A 1 117660703 CM C A Missense p.G490C c.1468G>T 1 117656107 STAD C G Missense p.E253Q c.757G>C 1 117661121 HNSC C G Missense p.K145N c.435G>C 1 117663389 LUSC C G Missense p.R65P c.194G>C 1 117663630 BRCA C G Missense p.S451R c.1353C>G 1 117658311 GBM C G Synonymous p.V495V c.1485G>C 1 117656090 HNSC C T Missense p.A161T c.481G>A 1 117663343 AML C T Missense p.A522T c.1564G>A 1 117656011 STAD C T Missense p.C203Y c.608G>A 1 117661270 ESCA C T Missense p.E254K c.760G>A 1 117661118 CM C T Missense p.G244S c.730G>A 1 117661148 BRCA C T Missense p.R269Q c.806G>A 1 117661072 UCEC C T Missense p.R278Q c.833G>A 1 117661045 RCCC C T Synonymous p.K187K c.561G>A 1 117661317 COREAD C T Synonymous p.K294K c.882G>A 1 117660996 RCCC C T Synonymous p.K472K c.1416G>A 1 117658248 CM C T Synonymous p.R355R c.1065G>A 1 117660813 CM C T Synonymous p.R355R c.1065G>A 1 117660813 LUAD G A 3-UTRSNV . c.1740+303C>T 1 117654627 HC GAG - InFrameDeletion p.P376delP c.1127_1129delCTC 1 117660749 UCEC G A Missense p.A428V c.1283C>T 1 117659307 STAD G A Missense p.H509Y c.1525C>T 1 117656050 BLCA G A Missense p.P366S c.1096C>T 1 117660782 CM G A Missense p.R278W c.832C>T 1 117661046 CM G A Synonymous p.C155C c.465C>T 1 117663359 HNSC G A Synonymous p.C158C c.474C>T 1 117663350 GBM G C IntronicSNV . c.1468-667C>G 1 117656774 PIA G C Missense p.P452R c.1355C>G 1 117658309 UCEC G C Missense p.Q377E c.1129C>G 1 117660749 LUSC G T Missense p.F205L c.615C>A 1 117661263 CM G T Missense p.S560Y c.1679C>A 1 117654991 LUAD G T Missense p.S560Y c.1679C>A 1 117654991 LUSC G T Missense p.T391K c.1172C>A 1 117660706 LUSC T G Missense p.T478P c.1432A>C 1 117658232 HC