Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 137525547 137525547 + Silent SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr5:137525547G>A c.1473C>T c.(1471-1473)atC>atT p.I491I BLCA 5 137536861 137536861 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr5:137536861G>C c.589C>G c.(589-591)Cat>Gat p.H197D BRCA 5 137524717 137524717 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr5:137524717T>G c.1744A>C c.(1744-1746)Acc>Ccc p.T582P CESC 5 137534364 137534364 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr5:137534364G>C c.762C>G c.(760-762)ctC>ctG p.L254L COAD 5 137524714 137524714 + Missense_Mutation SNP G G T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:137524714G>T c.1747C>A c.(1747-1749)Ccc>Acc p.P583T COAD 5 137525534 137525534 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:137525534C>A c.1486G>T c.(1486-1488)Gat>Tat p.D496Y COAD 5 137527203 137527203 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr5:137527203C>T c.1384G>A c.(1384-1386)Gtg>Atg p.V462M COAD 5 137527577 137527577 + Missense_Mutation SNP G G C TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr5:137527577G>C c.1336C>G c.(1336-1338)Ctc>Gtc p.L446V COAD 5 137527612 137527612 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:137527612C>T c.1301G>A c.(1300-1302)cGc>cAc p.R434H COAD 5 137527973 137527973 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:137527973C>T c.1271G>A c.(1270-1272)cGg>cAg p.R424Q COAD 5 137528005 137528005 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:137528005C>A c.1239G>T c.(1237-1239)aaG>aaT p.K413N COAD 5 137528191 137528191 + Splice_Site SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:137528191A>C c.e10+1 COAD 5 137528328 137528328 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:137528328C>T c.1031G>A c.(1030-1032)cGt>cAt p.R344H COAD 5 137533962 137533962 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:137533962T>G c.938A>C c.(937-939)aAa>aCa p.K313T COAD 5 137534337 137534337 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:137534337C>T c.789G>A c.(787-789)tcG>tcA p.S263S COAD 5 137534426 137534427 + Frame_Shift_Ins INS - - A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:137534426_137534427insA c.699_700insT c.(697-702)tttctgfs p.L234fs COAD 5 137542257 137542257 + Silent SNP C C G TCGA-AA-3952-01A-01W-0995-10 TCGA-AA-3952-10A-01W-0995-10 g.chr5:137542257C>G c.351G>C c.(349-351)ctG>ctC p.L117L COAD 5 137542306 137542306 + Missense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:137542306C>A c.302G>T c.(301-303)cGg>cTg p.R101L COADREAD 5 137524714 137524714 + Missense_Mutation SNP G G T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:137524714G>T c.1747C>A c.(1747-1749)Ccc>Acc p.P583T COADREAD 5 137525534 137525534 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:137525534C>A c.1486G>T c.(1486-1488)Gat>Tat p.D496Y COADREAD 5 137527203 137527203 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr5:137527203C>T c.1384G>A c.(1384-1386)Gtg>Atg p.V462M COADREAD 5 137527577 137527577 + Missense_Mutation SNP G G C TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr5:137527577G>C c.1336C>G c.(1336-1338)Ctc>Gtc p.L446V COADREAD 5 137527612 137527612 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:137527612C>T c.1301G>A c.(1300-1302)cGc>cAc p.R434H COADREAD 5 137527973 137527973 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:137527973C>T c.1271G>A c.(1270-1272)cGg>cAg p.R424Q COADREAD 5 137528005 137528005 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:137528005C>A c.1239G>T c.(1237-1239)aaG>aaT p.K413N COADREAD 5 137528191 137528191 + Splice_Site SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:137528191A>C c.e10+1 COADREAD 5 137528328 137528328 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:137528328C>T c.1031G>A c.(1030-1032)cGt>cAt p.R344H COADREAD 5 137533962 137533962 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:137533962T>G c.938A>C c.(937-939)aAa>aCa p.K313T COADREAD 5 137534337 137534337 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:137534337C>T c.789G>A c.(787-789)tcG>tcA p.S263S COADREAD 5 137534426 137534427 + Frame_Shift_Ins INS - - A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:137534426_137534427insA c.699_700insT c.(697-702)tttctgfs p.L234fs COADREAD 5 137542257 137542257 + Silent SNP C C G TCGA-AA-3952-01A-01W-0995-10 TCGA-AA-3952-10A-01W-0995-10 g.chr5:137542257C>G c.351G>C c.(349-351)ctG>ctC p.L117L COADREAD 5 137542306 137542306 + Missense_Mutation SNP C C A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:137542306C>A c.302G>T c.(301-303)cGg>cTg p.R101L DLBC 5 137533901 137533901 + Silent SNP C C T TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr5:137533901C>T c.999G>A c.(997-999)acG>acA p.T333T ESCA 5 137534426 137534426 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr5:137534426G>T c.700C>A c.(700-702)Ctg>Atg p.L234M GBM 5 137524677 137524677 + Missense_Mutation SNP A A G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 g.chr5:137524677A>G c.1784T>C c.(1783-1785)gTc>gCc p.V595A GBM 5 137548883 137548883 + Missense_Mutation SNP G G A TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr5:137548883G>A c.119C>T c.(118-120)gCg>gTg p.A40V GBMLGG 5 137524677 137524677 + Missense_Mutation SNP A A G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 g.chr5:137524677A>G c.1784T>C c.(1783-1785)gTc>gCc p.V595A GBMLGG 5 137527974 137527974 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:137527974G>A c.1270C>T c.(1270-1272)Cgg>Tgg p.R424W GBMLGG 5 137536863 137536863 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:137536863G>T c.587C>A c.(586-588)aCt>aAt p.T196N GBMLGG 5 137548861 137548861 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:137548861G>A c.141C>T c.(139-141)ggC>ggT p.G47G GBMLGG 5 137548883 137548883 + Missense_Mutation SNP G G A TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr5:137548883G>A c.119C>T c.(118-120)gCg>gTg p.A40V HNSC 5 137534413 137534413 + Missense_Mutation SNP T T A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr5:137534413T>A c.713A>T c.(712-714)tAc>tTc p.Y238F HNSC 5 137542373 137542373 + Splice_Site SNP C C T TCGA-QK-A64Z-01A-11D-A30E-08 TCGA-QK-A64Z-10A-01D-A30H-08 g.chr5:137542373C>T c.235G>A c.(235-237)Gaa>Aaa p.E79K HNSC 5 137548688 137548688 + Missense_Mutation SNP T T A TCGA-CR-7372-01A-11D-2012-08 TCGA-CR-7372-10A-01D-2013-08 g.chr5:137548688T>A c.226A>T c.(226-228)Att>Ttt p.I76F HNSC 5 137548924 137548924 + Missense_Mutation SNP G G T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 g.chr5:137548924G>T c.78C>A c.(76-78)ttC>ttA p.F26L KICH 5 137524673 137524673 + Silent SNP C C T TCGA-KN-8422-01A-11D-2310-10 TCGA-KN-8422-11A-01D-2310-10 g.chr5:137524673C>T c.1788G>A c.(1786-1788)acG>acA p.T596T KIPAN 5 137524673 137524673 + Silent SNP C C T TCGA-KN-8422-01A-11D-2310-10 TCGA-KN-8422-11A-01D-2310-10 g.chr5:137524673C>T c.1788G>A c.(1786-1788)acG>acA p.T596T KIPAN 5 137524758 137524758 + Missense_Mutation SNP G G C TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr5:137524758G>C c.1703C>G c.(1702-1704)cCt>cGt p.P568R KIPAN 5 137527594 137527594 + Missense_Mutation SNP C C G TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr5:137527594C>G c.1319G>C c.(1318-1320)gGa>gCa p.G440A KIPAN 5 137542357 137542357 + Missense_Mutation SNP A A G TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chr5:137542357A>G c.251T>C c.(250-252)aTg>aCg p.M84T KIRC 5 137524758 137524758 + Missense_Mutation SNP G G C TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr5:137524758G>C c.1703C>G c.(1702-1704)cCt>cGt p.P568R KIRC 5 137542357 137542357 + Missense_Mutation SNP A A G TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chr5:137542357A>G c.251T>C c.(250-252)aTg>aCg p.M84T KIRP 5 137527594 137527594 + Missense_Mutation SNP C C G TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr5:137527594C>G c.1319G>C c.(1318-1320)gGa>gCa p.G440A LGG 5 137527974 137527974 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:137527974G>A c.1270C>T c.(1270-1272)Cgg>Tgg p.R424W LGG 5 137536863 137536863 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:137536863G>T c.587C>A c.(586-588)aCt>aAt p.T196N LGG 5 137548861 137548861 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:137548861G>A c.141C>T c.(139-141)ggC>ggT p.G47G LIHC 5 137527198 137527198 + Silent SNP T T C TCGA-DD-AACZ-01A-11D-A40R-10 TCGA-DD-AACZ-10A-01D-A40U-10 g.chr5:137527198T>C c.1389A>G c.(1387-1389)ggA>ggG p.G463G LIHC 5 137537070 137537070 + Silent SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr5:137537070T>C c.483A>G c.(481-483)aaA>aaG p.K161K LIHC 5 137537124 137537124 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr5:137537124delT c.429delA c.(427-429)aaafs p.K143fs LUAD 5 137525547 137525547 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 g.chr5:137525547G>A c.1473C>T c.(1471-1473)atC>atT p.I491I LUAD 5 137527959 137527959 + Splice_Site SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 g.chr5:137527959G>A c.1285C>T c.(1285-1287)Cga>Tga p.R429* LUAD 5 137542264 137542264 + Missense_Mutation SNP T T C TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr5:137542264T>C c.344A>G c.(343-345)tAt>tGt p.Y115C LUAD 5 137542338 137542338 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr5:137542338G>A c.270C>T c.(268-270)gcC>gcT p.A90A LUAD 5 137548748 137548748 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr5:137548748C>A c.166G>T c.(166-168)Gcg>Tcg p.A56S LUSC 5 137524751 137524751 + Silent SNP G G C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 g.chr5:137524751G>C c.1710C>G c.(1708-1710)ccC>ccG p.P570P LUSC 5 137527989 137527989 + Missense_Mutation SNP G G T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr5:137527989G>T c.1255C>A c.(1255-1257)Ctt>Att p.L419I LUSC 5 137542257 137542257 + Silent SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr5:137542257C>A c.351G>T c.(349-351)ctG>ctT p.L117L OV 5 137525396 137525396 + Missense_Mutation SNP C C T TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 g.chr5:137525396C>T c.1549G>A c.(1549-1551)Gcc>Acc p.A517T PAAD 5 137524808 137524808 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr5:137524808C>T c.1653G>A c.(1651-1653)cgG>cgA p.R551R PAAD 5 137525388 137525388 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:137525388G>A c.1557C>T c.(1555-1557)taC>taT p.Y519Y PAAD 5 137525404 137525404 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:137525404C>T c.1541G>A c.(1540-1542)cGc>cAc p.R514H PRAD 5 137524750 137524750 + Missense_Mutation SNP A A G TCGA-HC-7230-01A-11D-2114-08 TCGA-HC-7230-10A-01D-2115-08 g.chr5:137524750A>G c.1711T>C c.(1711-1713)Ttt>Ctt p.F571L PRAD 5 137533941 137533941 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:137533941G>A c.959C>T c.(958-960)gCt>gTt p.A320V PRAD 5 137548685 137548685 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:137548685T>C c.229A>G c.(229-231)Aca>Gca p.T77A SKCM 5 137527989 137527989 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr5:137527989G>T c.1255C>A c.(1255-1257)Ctt>Att p.L419I SKCM 5 137533959 137533959 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:137533959G>A c.941C>T c.(940-942)tCg>tTg p.S314L SKCM 5 137534194 137534194 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr5:137534194G>A c.851C>T c.(850-852)tCc>tTc p.S284F SKCM 5 137537132 137537132 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:137537132G>A c.421C>T c.(421-423)Ctg>Ttg p.L141L SKCM 5 137542246 137542246 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr5:137542246G>A c.362C>T c.(361-363)tCc>tTc p.S121F

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 5 137521715 137521715 single base substitution G A downstream_gene_variant BLCA-CN 5 137527612 137527612 single base substitution C T exon_variant BLCA-CN 5 137527612 137527612 single base substitution C T missense_variant R434H 1301G>A BLCA-CN 5 137527612 137527612 single base substitution C T upstream_gene_variant BLCA-CN 5 137528328 137528328 single base substitution C T exon_variant BLCA-CN 5 137528328 137528328 single base substitution C T missense_variant R344H 1031G>A BLCA-CN 5 137528328 137528328 single base substitution C T upstream_gene_variant BLCA-CN 5 137534315 137534315 single base substitution C A downstream_gene_variant BLCA-CN 5 137534315 137534315 single base substitution C A missense_variant V271F 811G>T BLCA-CN 5 137534315 137534315 single base substitution C A upstream_gene_variant BRCA-EU 5 137518814 137518814 single base substitution G A downstream_gene_variant BRCA-EU 5 137519493 137519493 single base substitution G C downstream_gene_variant BRCA-EU 5 137523281 137523281 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 137523565 137523565 single base substitution G T 3_prime_UTR_variant BRCA-EU 5 137523565 137523565 single base substitution G T downstream_gene_variant BRCA-EU 5 137524093 137524093 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 5 137524093 137524093 deletion of <=200bp C - downstream_gene_variant BRCA-EU 5 137526868 137526868 single base substitution G A intron_variant BRCA-EU 5 137526868 137526868 single base substitution G A upstream_gene_variant BRCA-EU 5 137527438 137527438 single base substitution G C intron_variant BRCA-EU 5 137527438 137527438 single base substitution G C upstream_gene_variant BRCA-EU 5 137529880 137529880 single base substitution A C intron_variant BRCA-EU 5 137529880 137529880 single base substitution A C upstream_gene_variant BRCA-EU 5 137530754 137530754 single base substitution T A intron_variant BRCA-EU 5 137530754 137530754 single base substitution T A upstream_gene_variant BRCA-EU 5 137531948 137531948 single base substitution G T downstream_gene_variant BRCA-EU 5 137531948 137531948 single base substitution G T intron_variant BRCA-EU 5 137532288 137532288 single base substitution G C downstream_gene_variant BRCA-EU 5 137532288 137532288 single base substitution G C intron_variant BRCA-EU 5 137533099 137533099 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 137533099 137533099 deletion of <=200bp A - intron_variant BRCA-EU 5 137533403 137533403 single base substitution C G downstream_gene_variant BRCA-EU 5 137533403 137533403 single base substitution C G intron_variant BRCA-EU 5 137534308 137534308 single base substitution T C downstream_gene_variant BRCA-EU 5 137534308 137534308 single base substitution T C exon_variant BRCA-EU 5 137534308 137534308 single base substitution T C missense_variant Y273C 818A>G BRCA-EU 5 137535244 137535244 single base substitution G A downstream_gene_variant BRCA-EU 5 137535244 137535244 single base substitution G A intron_variant BRCA-EU 5 137535244 137535244 single base substitution G A upstream_gene_variant BRCA-EU 5 137536177 137536177 single base substitution G C downstream_gene_variant BRCA-EU 5 137536177 137536177 single base substitution G C intron_variant BRCA-EU 5 137536177 137536177 single base substitution G C upstream_gene_variant BRCA-EU 5 137542286 137542286 single base substitution C G exon_variant BRCA-EU 5 137542286 137542286 single base substitution C G missense_variant G108R 322G>C BRCA-EU 5 137542286 137542286 single base substitution C G missense_variant M106I 318G>C BRCA-EU 5 137542603 137542603 single base substitution C G intron_variant BRCA-EU 5 137543153 137543153 single base substitution C T intron_variant BRCA-EU 5 137544918 137544918 single base substitution C T intron_variant BRCA-EU 5 137545159 137545159 single base substitution C G intron_variant BRCA-EU 5 137545414 137545414 single base substitution G A intron_variant BRCA-EU 5 137545508 137545508 single base substitution G A intron_variant BRCA-EU 5 137546205 137546205 deletion of <=200bp A - intron_variant BRCA-EU 5 137546651 137546651 single base substitution T A intron_variant BRCA-EU 5 137547189 137547189 single base substitution A G intron_variant BRCA-EU 5 137547696 137547696 single base substitution C G intron_variant BRCA-EU 5 137547781 137547781 single base substitution C G intron_variant BRCA-EU 5 137549139 137549139 single base substitution A C upstream_gene_variant BRCA-EU 5 137549325 137549325 single base substitution G A upstream_gene_variant BRCA-EU 5 137549404 137549404 single base substitution G C upstream_gene_variant BRCA-EU 5 137549471 137549471 single base substitution G T upstream_gene_variant BRCA-EU 5 137550382 137550382 single base substitution G A upstream_gene_variant BRCA-EU 5 137551062 137551062 single base substitution T A upstream_gene_variant BRCA-EU 5 137551618 137551618 single base substitution T A upstream_gene_variant BRCA-EU 5 137553370 137553370 single base substitution C T upstream_gene_variant BRCA-FR 5 137529880 137529880 single base substitution A C intron_variant BRCA-FR 5 137529880 137529880 single base substitution A C upstream_gene_variant BRCA-FR 5 137533403 137533403 single base substitution C G downstream_gene_variant BRCA-FR 5 137533403 137533403 single base substitution C G intron_variant BRCA-FR 5 137536177 137536177 single base substitution G C downstream_gene_variant BRCA-FR 5 137536177 137536177 single base substitution G C intron_variant BRCA-FR 5 137536177 137536177 single base substitution G C upstream_gene_variant BRCA-FR 5 137542603 137542603 single base substitution C G intron_variant BRCA-FR 5 137546651 137546651 single base substitution T A intron_variant BRCA-FR 5 137553370 137553370 single base substitution C T upstream_gene_variant BRCA-UK 5 137535244 137535244 single base substitution G A downstream_gene_variant BRCA-UK 5 137535244 137535244 single base substitution G A intron_variant BRCA-UK 5 137535244 137535244 single base substitution G A upstream_gene_variant BRCA-US 5 137518631 137518631 single base substitution G C downstream_gene_variant BRCA-US 5 137519736 137519736 single base substitution A C downstream_gene_variant BRCA-US 5 137520321 137520321 single base substitution G A downstream_gene_variant BRCA-US 5 137524717 137524717 single base substitution T G downstream_gene_variant BRCA-US 5 137524717 137524717 single base substitution T G exon_variant BRCA-US 5 137524717 137524717 single base substitution T G missense_variant T582P 1744A>C BRCA-US 5 137542199 137542199 single base substitution C T 3_prime_UTR_variant BRCA-US 5 137542199 137542199 single base substitution C T intron_variant BRCA-US 5 137542199 137542199 single base substitution C T missense_variant E137K 409G>A BTCA-JP 5 137520873 137520875 deletion of <=200bp AAG - downstream_gene_variant BTCA-JP 5 137521606 137521606 deletion of <=200bp A - downstream_gene_variant BTCA-JP 5 137537770 137537770 single base substitution T G downstream_gene_variant BTCA-JP 5 137537770 137537770 single base substitution T G intron_variant BTCA-JP 5 137537770 137537770 single base substitution T G upstream_gene_variant BTCA-JP 5 137537916 137537916 single base substitution A G downstream_gene_variant BTCA-JP 5 137537916 137537916 single base substitution A G intron_variant BTCA-JP 5 137537916 137537916 single base substitution A G upstream_gene_variant BTCA-JP 5 137549046 137549046 single base substitution G T upstream_gene_variant CESC-US 5 137518570 137518570 single base substitution G A downstream_gene_variant CESC-US 5 137520288 137520288 single base substitution G C downstream_gene_variant CESC-US 5 137534364 137534364 single base substitution G C downstream_gene_variant CESC-US 5 137534364 137534364 single base substitution G C synonymous_variant L254L 762C>G CESC-US 5 137534364 137534364 single base substitution G C upstream_gene_variant CLLE-ES 5 137536778 137536778 single base substitution T C downstream_gene_variant CLLE-ES 5 137536778 137536778 single base substitution T C exon_variant CLLE-ES 5 137536778 137536778 single base substitution T C intron_variant CLLE-ES 5 137536778 137536778 single base substitution T C upstream_gene_variant COAD-US 5 137519021 137519021 single base substitution C T downstream_gene_variant COAD-US 5 137521264 137521264 single base substitution G A downstream_gene_variant COAD-US 5 137521394 137521394 single base substitution C T downstream_gene_variant COAD-US 5 137521648 137521649 deletion of <=200bp AG - downstream_gene_variant COAD-US 5 137523096 137523096 single base substitution G C downstream_gene_variant COAD-US 5 137527612 137527612 single base substitution C T exon_variant COAD-US 5 137527612 137527612 single base substitution C T missense_variant R434H 1301G>A COAD-US 5 137527612 137527612 single base substitution C T upstream_gene_variant COAD-US 5 137528328 137528328 single base substitution C T exon_variant COAD-US 5 137528328 137528328 single base substitution C T missense_variant R344H 1031G>A COAD-US 5 137528328 137528328 single base substitution C T upstream_gene_variant COAD-US 5 137533962 137533962 single base substitution T G downstream_gene_variant COAD-US 5 137533962 137533962 single base substitution T G exon_variant COAD-US 5 137533962 137533962 single base substitution T G missense_variant K313T 938A>C COAD-US 5 137534426 137534426 insertion of <=200bp - A downstream_gene_variant COAD-US 5 137534426 137534426 insertion of <=200bp - A frameshift_variant L234L? COAD-US 5 137534426 137534426 insertion of <=200bp - A upstream_gene_variant COAD-US 5 137542306 137542306 single base substitution C A exon_variant COAD-US 5 137542306 137542306 single base substitution C A missense_variant G100W 298G>T COAD-US 5 137542306 137542306 single base substitution C A missense_variant R101L 302G>T COCA-CN 5 137518618 137518618 single base substitution C T downstream_gene_variant COCA-CN 5 137519010 137519010 single base substitution T G downstream_gene_variant COCA-CN 5 137519839 137519839 single base substitution G T downstream_gene_variant COCA-CN 5 137520056 137520057 deletion of <=200bp CT - downstream_gene_variant COCA-CN 5 137520481 137520481 single base substitution G A downstream_gene_variant COCA-CN 5 137521297 137521297 single base substitution C T downstream_gene_variant COCA-CN 5 137521613 137521613 single base substitution C A downstream_gene_variant COCA-CN 5 137521893 137521893 single base substitution T G downstream_gene_variant COCA-CN 5 137527240 137527240 single base substitution A G intron_variant COCA-CN 5 137527240 137527240 single base substitution A G upstream_gene_variant COCA-CN 5 137533159 137533159 single base substitution T C downstream_gene_variant COCA-CN 5 137533159 137533159 single base substitution T C intron_variant COCA-CN 5 137536769 137536769 single base substitution T C downstream_gene_variant COCA-CN 5 137536769 137536769 single base substitution T C exon_variant COCA-CN 5 137536769 137536769 single base substitution T C intron_variant COCA-CN 5 137536769 137536769 single base substitution T C upstream_gene_variant COCA-CN 5 137537797 137537797 single base substitution C T downstream_gene_variant COCA-CN 5 137537797 137537797 single base substitution C T intron_variant COCA-CN 5 137537797 137537797 single base substitution C T splice_region_variant COCA-CN 5 137537797 137537797 single base substitution C T upstream_gene_variant COCA-CN 5 137542437 137542437 single base substitution A C intron_variant COCA-CN 5 137543799 137543799 single base substitution C T intron_variant COCA-CN 5 137550020 137550020 single base substitution A C upstream_gene_variant COCA-CN 5 137554028 137554028 single base substitution A G upstream_gene_variant EOPC-DE 5 137522537 137522537 single base substitution T C downstream_gene_variant ESAD-UK 5 137519994 137519996 deletion of <=200bp AGG - downstream_gene_variant ESAD-UK 5 137519998 137520006 deletion of <=200bp CGAGGCCGT - downstream_gene_variant ESAD-UK 5 137525631 137525631 single base substitution T A exon_variant ESAD-UK 5 137525631 137525631 single base substitution T A intron_variant ESAD-UK 5 137525712 137525715 deletion of <=200bp ATAA - exon_variant ESAD-UK 5 137525712 137525715 deletion of <=200bp ATAA - intron_variant ESAD-UK 5 137526737 137526737 single base substitution A C intron_variant ESAD-UK 5 137526737 137526737 single base substitution A C upstream_gene_variant ESAD-UK 5 137528216 137528216 single base substitution C G exon_variant ESAD-UK 5 137528216 137528216 single base substitution C G synonymous_variant T381T 1143G>C ESAD-UK 5 137528216 137528216 single base substitution C G upstream_gene_variant ESAD-UK 5 137529989 137529989 single base substitution C A intron_variant ESAD-UK 5 137529989 137529989 single base substitution C A upstream_gene_variant ESAD-UK 5 137530754 137530754 single base substitution T A intron_variant ESAD-UK 5 137530754 137530754 single base substitution T A upstream_gene_variant ESAD-UK 5 137531705 137531705 single base substitution C G downstream_gene_variant ESAD-UK 5 137531705 137531705 single base substitution C G intron_variant ESAD-UK 5 137532408 137532408 single base substitution T C downstream_gene_variant ESAD-UK 5 137532408 137532408 single base substitution T C intron_variant ESAD-UK 5 137533572 137533572 single base substitution C T downstream_gene_variant ESAD-UK 5 137533572 137533572 single base substitution C T intron_variant ESAD-UK 5 137536667 137536667 single base substitution G C downstream_gene_variant ESAD-UK 5 137536667 137536667 single base substitution G C exon_variant ESAD-UK 5 137536667 137536667 single base substitution G C intron_variant ESAD-UK 5 137536667 137536667 single base substitution G C upstream_gene_variant ESAD-UK 5 137536912 137536912 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 137536912 137536912 single base substitution G A downstream_gene_variant ESAD-UK 5 137536912 137536912 single base substitution G A exon_variant ESAD-UK 5 137536912 137536912 single base substitution G A stop_gained R180* 538C>T ESAD-UK 5 137536912 137536912 single base substitution G A upstream_gene_variant ESAD-UK 5 137539225 137539225 single base substitution G A downstream_gene_variant ESAD-UK 5 137539225 137539225 single base substitution G A intron_variant ESAD-UK 5 137539225 137539225 single base substitution G A upstream_gene_variant ESAD-UK 5 137541715 137541715 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 5 137541715 137541715 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 137541715 137541715 deletion of <=200bp T - intron_variant ESAD-UK 5 137543879 137543879 single base substitution G A intron_variant ESAD-UK 5 137547201 137547201 single base substitution A C intron_variant ESAD-UK 5 137549008 137549008 single base substitution G C 5_prime_UTR_variant ESAD-UK 5 137549008 137549008 single base substitution G C upstream_gene_variant ESAD-UK 5 137549930 137549930 single base substitution T G upstream_gene_variant ESAD-UK 5 137550462 137550462 single base substitution G T upstream_gene_variant ESAD-UK 5 137551299 137551299 single base substitution G A upstream_gene_variant ESCA-CN 5 137523016 137523016 single base substitution T A downstream_gene_variant ESCA-CN 5 137524731 137524731 single base substitution A C downstream_gene_variant ESCA-CN 5 137524731 137524731 single base substitution A C exon_variant ESCA-CN 5 137524731 137524731 single base substitution A C missense_variant L577R 1730T>G GBM-US 5 137524677 137524677 single base substitution A G downstream_gene_variant GBM-US 5 137524677 137524677 single base substitution A G exon_variant GBM-US 5 137524677 137524677 single base substitution A G missense_variant V595A 1784T>C GBM-US 5 137548883 137548883 single base substitution G A exon_variant GBM-US 5 137548883 137548883 single base substitution G A missense_variant A40V 119C>T KIRC-US 5 137519224 137519224 single base substitution A G downstream_gene_variant KIRC-US 5 137520633 137520633 single base substitution C T downstream_gene_variant KIRC-US 5 137522079 137522079 single base substitution C T downstream_gene_variant KIRC-US 5 137522869 137522869 single base substitution T C downstream_gene_variant KIRC-US 5 137524758 137524758 single base substitution G C downstream_gene_variant KIRC-US 5 137524758 137524758 single base substitution G C exon_variant KIRC-US 5 137524758 137524758 single base substitution G C missense_variant P568R 1703C>G KIRC-US 5 137542357 137542357 single base substitution A G exon_variant KIRC-US 5 137542357 137542357 single base substitution A G missense_variant M84T 251T>C KIRC-US 5 137542357 137542357 single base substitution A G missense_variant W83R 247T>C LAML-KR 5 137532140 137532140 single base substitution T C downstream_gene_variant LAML-KR 5 137532140 137532140 single base substitution T C intron_variant LAML-KR 5 137545730 137545730 single base substitution T C intron_variant LAML-KR 5 137545732 137545732 single base substitution C A intron_variant LGG-US 5 137521298 137521298 single base substitution G A downstream_gene_variant LICA-CN 5 137520871 137520871 single base substitution C A downstream_gene_variant LICA-CN 5 137533957 137533957 single base substitution C A downstream_gene_variant LICA-CN 5 137533957 137533957 single base substitution C A exon_variant LICA-CN 5 137533957 137533957 single base substitution C A stop_gained E315* 943G>T LICA-FR 5 137520109 137520109 single base substitution T G downstream_gene_variant LICA-FR 5 137521219 137521220 deletion of <=200bp GA - downstream_gene_variant LICA-FR 5 137522214 137522214 single base substitution T G downstream_gene_variant LICA-FR 5 137550047 137550047 single base substitution G A upstream_gene_variant LICA-FR 5 137550769 137550769 insertion of <=200bp - T upstream_gene_variant LIHC-US 5 137537070 137537070 single base substitution T C 3_prime_UTR_variant LIHC-US 5 137537070 137537070 single base substitution T C downstream_gene_variant LIHC-US 5 137537070 137537070 single base substitution T C exon_variant LIHC-US 5 137537070 137537070 single base substitution T C synonymous_variant K161K 483A>G LIHC-US 5 137537070 137537070 single base substitution T C upstream_gene_variant LINC-JP 5 137519881 137519881 single base substitution G A downstream_gene_variant LINC-JP 5 137521217 137521217 single base substitution T C downstream_gene_variant LINC-JP 5 137524617 137524617 single base substitution A G 3_prime_UTR_variant LINC-JP 5 137524617 137524617 single base substitution A G downstream_gene_variant LINC-JP 5 137537282 137537282 single base substitution C T downstream_gene_variant LINC-JP 5 137537282 137537282 single base substitution C T intron_variant LINC-JP 5 137537282 137537282 single base substitution C T upstream_gene_variant LINC-JP 5 137541263 137541263 single base substitution T C downstream_gene_variant LINC-JP 5 137541263 137541263 single base substitution T C intron_variant LINC-JP 5 137541402 137541402 single base substitution C A downstream_gene_variant LINC-JP 5 137541402 137541402 single base substitution C A intron_variant LIRI-JP 5 137523964 137523964 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 137523964 137523964 single base substitution A G downstream_gene_variant LIRI-JP 5 137524162 137524162 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 137524162 137524162 single base substitution T C downstream_gene_variant LIRI-JP 5 137524617 137524617 single base substitution A T 3_prime_UTR_variant LIRI-JP 5 137524617 137524617 single base substitution A T downstream_gene_variant LIRI-JP 5 137526525 137526525 single base substitution C A intron_variant LIRI-JP 5 137526525 137526525 single base substitution C A upstream_gene_variant LIRI-JP 5 137529861 137529861 single base substitution A C intron_variant LIRI-JP 5 137529861 137529861 single base substitution A C upstream_gene_variant LIRI-JP 5 137533860 137533860 single base substitution T G downstream_gene_variant LIRI-JP 5 137533860 137533860 single base substitution T G intron_variant LIRI-JP 5 137534769 137534769 single base substitution G A downstream_gene_variant LIRI-JP 5 137534769 137534769 single base substitution G A intron_variant LIRI-JP 5 137534769 137534769 single base substitution G A upstream_gene_variant LIRI-JP 5 137537334 137537334 single base substitution C T downstream_gene_variant LIRI-JP 5 137537334 137537334 single base substitution C T intron_variant LIRI-JP 5 137537334 137537334 single base substitution C T upstream_gene_variant LIRI-JP 5 137538304 137538304 single base substitution T C downstream_gene_variant LIRI-JP 5 137538304 137538304 single base substitution T C intron_variant LIRI-JP 5 137538304 137538304 single base substitution T C upstream_gene_variant LIRI-JP 5 137538398 137538398 single base substitution T C downstream_gene_variant LIRI-JP 5 137538398 137538398 single base substitution T C intron_variant LIRI-JP 5 137538398 137538398 single base substitution T C upstream_gene_variant LIRI-JP 5 137538707 137538707 single base substitution A T downstream_gene_variant LIRI-JP 5 137538707 137538707 single base substitution A T intron_variant LIRI-JP 5 137538707 137538707 single base substitution A T upstream_gene_variant LIRI-JP 5 137539657 137539657 single base substitution A G downstream_gene_variant LIRI-JP 5 137539657 137539657 single base substitution A G intron_variant LIRI-JP 5 137546315 137546315 single base substitution T C intron_variant LIRI-JP 5 137546318 137546318 single base substitution T C intron_variant LIRI-JP 5 137551779 137551779 single base substitution A G upstream_gene_variant LUSC-KR 5 137523648 137523648 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 137523648 137523648 single base substitution T C downstream_gene_variant LUSC-KR 5 137528886 137528886 single base substitution G C intron_variant LUSC-KR 5 137528886 137528886 single base substitution G C upstream_gene_variant LUSC-KR 5 137534030 137534030 single base substitution T C downstream_gene_variant LUSC-KR 5 137534030 137534030 single base substitution T C intron_variant LUSC-KR 5 137543905 137543905 single base substitution G C intron_variant LUSC-KR 5 137544241 137544241 single base substitution G A intron_variant LUSC-KR 5 137549168 137549168 single base substitution C G upstream_gene_variant LUSC-KR 5 137550020 137550020 single base substitution A C upstream_gene_variant LUSC-KR 5 137550849 137550849 single base substitution G A upstream_gene_variant LUSC-KR 5 137552779 137552779 single base substitution A T upstream_gene_variant LUSC-US 5 137518647 137518647 single base substitution T C downstream_gene_variant LUSC-US 5 137519972 137519972 single base substitution G T downstream_gene_variant LUSC-US 5 137520077 137520077 single base substitution C G downstream_gene_variant LUSC-US 5 137522040 137522040 single base substitution G C downstream_gene_variant LUSC-US 5 137524751 137524751 single base substitution G C downstream_gene_variant LUSC-US 5 137524751 137524751 single base substitution G C exon_variant LUSC-US 5 137524751 137524751 single base substitution G C synonymous_variant P570P 1710C>G LUSC-US 5 137527989 137527989 single base substitution G T exon_variant LUSC-US 5 137527989 137527989 single base substitution G T missense_variant L419I 1255C>A LUSC-US 5 137527989 137527989 single base substitution G T upstream_gene_variant LUSC-US 5 137542257 137542257 single base substitution C A exon_variant LUSC-US 5 137542257 137542257 single base substitution C A missense_variant C116F 347G>T LUSC-US 5 137542257 137542257 single base substitution C A synonymous_variant L117L 351G>T MALY-DE 5 137527810 137527810 deletion of <=200bp A - exon_variant MALY-DE 5 137527810 137527810 deletion of <=200bp A - intron_variant MALY-DE 5 137527810 137527810 deletion of <=200bp A - upstream_gene_variant MALY-DE 5 137545766 137545766 single base substitution G A intron_variant MALY-DE 5 137549441 137549441 single base substitution A C upstream_gene_variant MELA-AU 5 137521518 137521518 single base substitution G A downstream_gene_variant MELA-AU 5 137521714 137521714 single base substitution G A downstream_gene_variant MELA-AU 5 137521862 137521862 single base substitution T C downstream_gene_variant MELA-AU 5 137524247 137524247 single base substitution C T 3_prime_UTR_variant MELA-AU 5 137524247 137524247 single base substitution C T downstream_gene_variant MELA-AU 5 137524292 137524292 single base substitution G A 3_prime_UTR_variant MELA-AU 5 137524292 137524292 single base substitution G A downstream_gene_variant MELA-AU 5 137524302 137524305 deletion of <=200bp CTTT - 3_prime_UTR_variant MELA-AU 5 137524302 137524305 deletion of <=200bp CTTT - downstream_gene_variant MELA-AU 5 137524382 137524383 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 137524382 137524383 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 137524772 137524772 single base substitution A G downstream_gene_variant MELA-AU 5 137524772 137524772 single base substitution A G exon_variant MELA-AU 5 137524772 137524772 single base substitution A G synonymous_variant P563P 1689T>C MELA-AU 5 137527897 137527897 single base substitution G A exon_variant MELA-AU 5 137527897 137527897 single base substitution G A intron_variant MELA-AU 5 137527897 137527897 single base substitution G A upstream_gene_variant MELA-AU 5 137528274 137528274 single base substitution G A exon_variant MELA-AU 5 137528274 137528274 single base substitution G A missense_variant P362L 1085C>T MELA-AU 5 137528274 137528274 single base substitution G A upstream_gene_variant MELA-AU 5 137528491 137528491 single base substitution G A intron_variant MELA-AU 5 137528491 137528491 single base substitution G A upstream_gene_variant MELA-AU 5 137528998 137528998 single base substitution A G intron_variant MELA-AU 5 137528998 137528998 single base substitution A G upstream_gene_variant MELA-AU 5 137529239 137529239 single base substitution C T intron_variant MELA-AU 5 137529239 137529239 single base substitution C T upstream_gene_variant MELA-AU 5 137529663 137529663 single base substitution G A intron_variant MELA-AU 5 137529663 137529663 single base substitution G A upstream_gene_variant MELA-AU 5 137530625 137530626 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 137530625 137530626 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 137531813 137531813 single base substitution G A downstream_gene_variant MELA-AU 5 137531813 137531813 single base substitution G A intron_variant MELA-AU 5 137531887 137531887 single base substitution G A downstream_gene_variant MELA-AU 5 137531887 137531887 single base substitution G A intron_variant MELA-AU 5 137532115 137532115 single base substitution G A downstream_gene_variant MELA-AU 5 137532115 137532115 single base substitution G A intron_variant MELA-AU 5 137532172 137532172 single base substitution G A downstream_gene_variant MELA-AU 5 137532172 137532172 single base substitution G A intron_variant MELA-AU 5 137532491 137532491 single base substitution G A downstream_gene_variant MELA-AU 5 137532491 137532491 single base substitution G A intron_variant MELA-AU 5 137532659 137532659 single base substitution G A downstream_gene_variant MELA-AU 5 137532659 137532659 single base substitution G A intron_variant MELA-AU 5 137532917 137532917 single base substitution C T downstream_gene_variant MELA-AU 5 137532917 137532917 single base substitution C T intron_variant MELA-AU 5 137533210 137533210 single base substitution G A downstream_gene_variant MELA-AU 5 137533210 137533210 single base substitution G A intron_variant MELA-AU 5 137533453 137533453 single base substitution G A downstream_gene_variant MELA-AU 5 137533453 137533453 single base substitution G A intron_variant MELA-AU 5 137534528 137534528 single base substitution A G downstream_gene_variant MELA-AU 5 137534528 137534528 single base substitution A G intron_variant MELA-AU 5 137534528 137534528 single base substitution A G upstream_gene_variant MELA-AU 5 137534735 137534735 single base substitution G A downstream_gene_variant MELA-AU 5 137534735 137534735 single base substitution G A intron_variant MELA-AU 5 137534735 137534735 single base substitution G A upstream_gene_variant MELA-AU 5 137535334 137535334 single base substitution G A downstream_gene_variant MELA-AU 5 137535334 137535334 single base substitution G A intron_variant MELA-AU 5 137535334 137535334 single base substitution G A upstream_gene_variant MELA-AU 5 137535566 137535566 single base substitution G A downstream_gene_variant MELA-AU 5 137535566 137535566 single base substitution G A intron_variant MELA-AU 5 137535566 137535566 single base substitution G A upstream_gene_variant MELA-AU 5 137535699 137535699 single base substitution G A downstream_gene_variant MELA-AU 5 137535699 137535699 single base substitution G A intron_variant MELA-AU 5 137535699 137535699 single base substitution G A upstream_gene_variant MELA-AU 5 137535826 137535826 single base substitution T C downstream_gene_variant MELA-AU 5 137535826 137535826 single base substitution T C intron_variant MELA-AU 5 137535826 137535826 single base substitution T C upstream_gene_variant MELA-AU 5 137536933 137536933 single base substitution G A downstream_gene_variant MELA-AU 5 137536933 137536933 single base substitution G A intron_variant MELA-AU 5 137536933 137536933 single base substitution G A splice_region_variant MELA-AU 5 137536933 137536933 single base substitution G A upstream_gene_variant MELA-AU 5 137537443 137537443 single base substitution T A downstream_gene_variant MELA-AU 5 137537443 137537443 single base substitution T A intron_variant MELA-AU 5 137537443 137537443 single base substitution T A upstream_gene_variant MELA-AU 5 137538431 137538431 single base substitution G A downstream_gene_variant MELA-AU 5 137538431 137538431 single base substitution G A intron_variant MELA-AU 5 137538431 137538431 single base substitution G A upstream_gene_variant MELA-AU 5 137539058 137539058 single base substitution G A downstream_gene_variant MELA-AU 5 137539058 137539058 single base substitution G A intron_variant MELA-AU 5 137539058 137539058 single base substitution G A upstream_gene_variant MELA-AU 5 137539159 137539159 single base substitution G A downstream_gene_variant MELA-AU 5 137539159 137539159 single base substitution G A intron_variant MELA-AU 5 137539159 137539159 single base substitution G A upstream_gene_variant MELA-AU 5 137539249 137539249 single base substitution G A downstream_gene_variant MELA-AU 5 137539249 137539249 single base substitution G A intron_variant MELA-AU 5 137539249 137539249 single base substitution G A upstream_gene_variant MELA-AU 5 137539838 137539838 single base substitution G A downstream_gene_variant MELA-AU 5 137539838 137539838 single base substitution G A intron_variant MELA-AU 5 137540280 137540280 single base substitution G A downstream_gene_variant MELA-AU 5 137540280 137540280 single base substitution G A intron_variant MELA-AU 5 137540584 137540584 single base substitution C G downstream_gene_variant MELA-AU 5 137540584 137540584 single base substitution C G intron_variant MELA-AU 5 137540886 137540886 single base substitution C T downstream_gene_variant MELA-AU 5 137540886 137540886 single base substitution C T intron_variant MELA-AU 5 137541107 137541107 single base substitution G A downstream_gene_variant MELA-AU 5 137541107 137541107 single base substitution G A intron_variant MELA-AU 5 137542307 137542307 single base substitution G A exon_variant MELA-AU 5 137542307 137542307 single base substitution G A missense_variant R101W 301C>T MELA-AU 5 137542307 137542307 single base substitution G A synonymous_variant I99I 297C>T MELA-AU 5 137542768 137542768 single base substitution C T intron_variant MELA-AU 5 137542905 137542905 single base substitution G A intron_variant MELA-AU 5 137543139 137543139 single base substitution G A intron_variant MELA-AU 5 137543540 137543540 single base substitution G A intron_variant MELA-AU 5 137544156 137544156 single base substitution A G intron_variant MELA-AU 5 137544375 137544375 single base substitution G A intron_variant MELA-AU 5 137544418 137544418 single base substitution G A intron_variant MELA-AU 5 137544490 137544490 single base substitution C T intron_variant MELA-AU 5 137544930 137544930 single base substitution A G intron_variant MELA-AU 5 137545582 137545582 single base substitution C T intron_variant MELA-AU 5 137548011 137548011 single base substitution A T intron_variant MELA-AU 5 137548051 137548051 single base substitution G A intron_variant MELA-AU 5 137548183 137548183 single base substitution T A intron_variant MELA-AU 5 137548866 137548866 single base substitution G A exon_variant MELA-AU 5 137548866 137548866 single base substitution G A missense_variant R46W 136C>T MELA-AU 5 137549089 137549089 single base substitution C T upstream_gene_variant MELA-AU 5 137549099 137549099 single base substitution G A upstream_gene_variant MELA-AU 5 137549099 137549100 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 137549100 137549100 single base substitution G A upstream_gene_variant MELA-AU 5 137549118 137549118 single base substitution C T upstream_gene_variant MELA-AU 5 137549125 137549125 single base substitution C T upstream_gene_variant MELA-AU 5 137549127 137549127 single base substitution G A upstream_gene_variant MELA-AU 5 137549137 137549137 single base substitution G A upstream_gene_variant MELA-AU 5 137549154 137549154 single base substitution G A upstream_gene_variant MELA-AU 5 137549196 137549196 single base substitution G A upstream_gene_variant MELA-AU 5 137549225 137549225 single base substitution G A upstream_gene_variant MELA-AU 5 137549318 137549318 single base substitution G A upstream_gene_variant MELA-AU 5 137550412 137550412 single base substitution A G upstream_gene_variant MELA-AU 5 137550422 137550422 single base substitution A G upstream_gene_variant MELA-AU 5 137550797 137550797 single base substitution G A upstream_gene_variant MELA-AU 5 137550805 137550805 single base substitution C T upstream_gene_variant MELA-AU 5 137550808 137550808 single base substitution C T upstream_gene_variant MELA-AU 5 137551001 137551001 single base substitution G A upstream_gene_variant MELA-AU 5 137551392 137551392 single base substitution G A upstream_gene_variant MELA-AU 5 137551542 137551542 single base substitution G A upstream_gene_variant MELA-AU 5 137551806 137551806 single base substitution G A upstream_gene_variant MELA-AU 5 137552786 137552786 single base substitution C T upstream_gene_variant MELA-AU 5 137552964 137552964 single base substitution G A upstream_gene_variant MELA-AU 5 137553058 137553058 single base substitution T G upstream_gene_variant MELA-AU 5 137553135 137553135 single base substitution G T upstream_gene_variant MELA-AU 5 137553312 137553312 single base substitution T C upstream_gene_variant MELA-AU 5 137553774 137553774 single base substitution C T upstream_gene_variant MELA-AU 5 137553844 137553844 single base substitution C T upstream_gene_variant ORCA-IN 5 137520555 137520555 single base substitution G A downstream_gene_variant ORCA-IN 5 137540588 137540588 deletion of <=200bp G - downstream_gene_variant ORCA-IN 5 137540588 137540588 deletion of <=200bp G - intron_variant ORCA-IN 5 137541402 137541402 deletion of <=200bp C - downstream_gene_variant ORCA-IN 5 137541402 137541402 deletion of <=200bp C - intron_variant OV-AU 5 137536436 137536436 single base substitution G A downstream_gene_variant OV-AU 5 137536436 137536436 single base substitution G A intron_variant OV-AU 5 137536436 137536436 single base substitution G A upstream_gene_variant OV-AU 5 137548832 137548832 single base substitution A C intron_variant OV-AU 5 137549772 137549772 single base substitution G C upstream_gene_variant OV-AU 5 137552104 137552104 single base substitution A T upstream_gene_variant OV-AU 5 137553981 137553981 single base substitution A G upstream_gene_variant PACA-AU 5 137519652 137519652 single base substitution C G downstream_gene_variant PACA-AU 5 137519979 137519979 deletion of <=200bp C - downstream_gene_variant PACA-AU 5 137522785 137522785 single base substitution G A downstream_gene_variant PACA-AU 5 137538280 137538297 deletion of <=200bp AATTTCAAATAACTCTTC - downstream_gene_variant PACA-AU 5 137538280 137538297 deletion of <=200bp AATTTCAAATAACTCTTC - intron_variant PACA-AU 5 137538280 137538297 deletion of <=200bp AATTTCAAATAACTCTTC - upstream_gene_variant PACA-AU 5 137547887 137547887 single base substitution G A intron_variant PACA-AU 5 137548155 137548155 single base substitution G A intron_variant PACA-AU 5 137549699 137549699 single base substitution T C upstream_gene_variant PACA-AU 5 137553966 137553966 single base substitution G A upstream_gene_variant PACA-CA 5 137524612 137524612 single base substitution G A 3_prime_UTR_variant PACA-CA 5 137524612 137524612 single base substitution G A downstream_gene_variant PACA-CA 5 137528584 137528584 single base substitution A G intron_variant PACA-CA 5 137528584 137528584 single base substitution A G upstream_gene_variant PACA-CA 5 137528671 137528671 single base substitution A C intron_variant PACA-CA 5 137528671 137528671 single base substitution A C upstream_gene_variant PACA-CA 5 137539138 137539138 single base substitution G A downstream_gene_variant PACA-CA 5 137539138 137539138 single base substitution G A intron_variant PACA-CA 5 137539138 137539138 single base substitution G A upstream_gene_variant PACA-CA 5 137539426 137539426 single base substitution C G downstream_gene_variant PACA-CA 5 137539426 137539426 single base substitution C G intron_variant PACA-CA 5 137541669 137541669 single base substitution T A 3_prime_UTR_variant PACA-CA 5 137541669 137541669 single base substitution T A downstream_gene_variant PACA-CA 5 137541669 137541669 single base substitution T A intron_variant PACA-CA 5 137542414 137542414 single base substitution A C intron_variant PACA-CA 5 137551134 137551134 single base substitution G C upstream_gene_variant PACA-CA 5 137552128 137552128 single base substitution G A upstream_gene_variant PACA-CA 5 137553169 137553169 single base substitution G T upstream_gene_variant PAEN-AU 5 137539630 137539630 single base substitution T C downstream_gene_variant PAEN-AU 5 137539630 137539630 single base substitution T C intron_variant PAEN-IT 5 137519941 137519941 single base substitution C A downstream_gene_variant PBCA-DE 5 137524792 137524792 single base substitution G A downstream_gene_variant PBCA-DE 5 137524792 137524792 single base substitution G A exon_variant PBCA-DE 5 137524792 137524792 single base substitution G A missense_variant R557W 1669C>T PBCA-DE 5 137531389 137531389 insertion of <=200bp - TA intron_variant PRAD-CA 5 137524811 137524811 single base substitution G A downstream_gene_variant PRAD-CA 5 137524811 137524811 single base substitution G A exon_variant PRAD-CA 5 137524811 137524811 single base substitution G A synonymous_variant L550L 1650C>T PRAD-CA 5 137526773 137526773 single base substitution C A intron_variant PRAD-CA 5 137526773 137526773 single base substitution C A upstream_gene_variant PRAD-CA 5 137531463 137531463 single base substitution G A intron_variant PRAD-CA 5 137534640 137534640 single base substitution A C downstream_gene_variant PRAD-CA 5 137534640 137534640 single base substitution A C intron_variant PRAD-CA 5 137534640 137534640 single base substitution A C upstream_gene_variant PRAD-CA 5 137545549 137545549 single base substitution C T intron_variant PRAD-UK 5 137523711 137523711 single base substitution C A 3_prime_UTR_variant PRAD-UK 5 137523711 137523711 single base substitution C A downstream_gene_variant PRAD-UK 5 137524887 137524887 single base substitution G A downstream_gene_variant PRAD-UK 5 137524887 137524887 single base substitution G A intron_variant PRAD-UK 5 137541498 137541498 single base substitution T G downstream_gene_variant PRAD-UK 5 137541498 137541498 single base substitution T G intron_variant PRAD-UK 5 137544431 137544431 single base substitution T C intron_variant PRAD-UK 5 137551621 137551621 single base substitution A G upstream_gene_variant PRAD-US 5 137519025 137519025 single base substitution G T downstream_gene_variant PRAD-US 5 137520549 137520549 single base substitution G A downstream_gene_variant PRAD-US 5 137524750 137524750 single base substitution A G downstream_gene_variant PRAD-US 5 137524750 137524750 single base substitution A G exon_variant PRAD-US 5 137524750 137524750 single base substitution A G missense_variant F571L 1711T>C READ-US 5 137548933 137548933 single base substitution G T exon_variant READ-US 5 137548933 137548933 single base substitution G T missense_variant N23K 69C>A READ-US 5 137548933 137548933 single base substitution G T upstream_gene_variant RECA-EU 5 137521755 137521755 single base substitution T C downstream_gene_variant RECA-EU 5 137523401 137523401 single base substitution G C 3_prime_UTR_variant RECA-EU 5 137523401 137523401 single base substitution G C downstream_gene_variant RECA-EU 5 137527620 137527620 single base substitution A G exon_variant RECA-EU 5 137527620 137527620 single base substitution A G synonymous_variant N431N 1293T>C RECA-EU 5 137527620 137527620 single base substitution A G upstream_gene_variant RECA-EU 5 137541498 137541498 single base substitution T C downstream_gene_variant RECA-EU 5 137541498 137541498 single base substitution T C intron_variant RECA-EU 5 137550020 137550020 single base substitution A C upstream_gene_variant RECA-EU 5 137553361 137553361 single base substitution T A upstream_gene_variant SKCA-BR 5 137518870 137518870 single base substitution G A downstream_gene_variant SKCA-BR 5 137520773 137520773 single base substitution G A downstream_gene_variant SKCA-BR 5 137526155 137526156 deletion of <=200bp GA - intron_variant SKCA-BR 5 137526155 137526156 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 5 137527664 137527664 single base substitution A G exon_variant SKCA-BR 5 137527664 137527664 single base substitution A G intron_variant SKCA-BR 5 137527664 137527664 single base substitution A G upstream_gene_variant SKCA-BR 5 137529622 137529622 single base substitution G A intron_variant SKCA-BR 5 137529622 137529622 single base substitution G A upstream_gene_variant SKCA-BR 5 137529682 137529682 single base substitution G C intron_variant SKCA-BR 5 137529682 137529682 single base substitution G C upstream_gene_variant SKCA-BR 5 137531388 137531388 insertion of <=200bp - GTA intron_variant SKCA-BR 5 137531388 137531413 deletion of <=200bp GCATATATACATATAATATATATGTA - intron_variant SKCA-BR 5 137531389 137531389 single base substitution C T intron_variant SKCA-BR 5 137531411 137531413 deletion of <=200bp GTA - intron_variant SKCA-BR 5 137531414 137531414 single base substitution T C intron_variant SKCA-BR 5 137531888 137531888 single base substitution G A downstream_gene_variant SKCA-BR 5 137531888 137531888 single base substitution G A intron_variant SKCA-BR 5 137532591 137532591 single base substitution T A downstream_gene_variant SKCA-BR 5 137532591 137532591 single base substitution T A intron_variant SKCA-BR 5 137534001 137534001 single base substitution G A downstream_gene_variant SKCA-BR 5 137534001 137534001 single base substitution G A intron_variant SKCA-BR 5 137534982 137534982 single base substitution C A downstream_gene_variant SKCA-BR 5 137534982 137534982 single base substitution C A intron_variant SKCA-BR 5 137534982 137534982 single base substitution C A upstream_gene_variant SKCA-BR 5 137542704 137542704 single base substitution G A intron_variant SKCA-BR 5 137545512 137545512 insertion of <=200bp - CA intron_variant SKCA-BR 5 137549137 137549137 single base substitution G A upstream_gene_variant SKCA-BR 5 137549253 137549253 single base substitution A G upstream_gene_variant SKCA-BR 5 137550038 137550038 single base substitution G A upstream_gene_variant SKCA-BR 5 137550988 137550988 single base substitution G T upstream_gene_variant SKCA-BR 5 137551401 137551401 single base substitution T C upstream_gene_variant SKCM-US 5 137519947 137519947 single base substitution C T downstream_gene_variant SKCM-US 5 137521267 137521267 single base substitution C A downstream_gene_variant SKCM-US 5 137527989 137527989 single base substitution G T exon_variant SKCM-US 5 137527989 137527989 single base substitution G T missense_variant L419I 1255C>A SKCM-US 5 137527989 137527989 single base substitution G T upstream_gene_variant SKCM-US 5 137528294 137528294 single base substitution C T exon_variant SKCM-US 5 137528294 137528294 single base substitution C T synonymous_variant Q355Q 1065G>A SKCM-US 5 137528294 137528294 single base substitution C T upstream_gene_variant SKCM-US 5 137533900 137533900 single base substitution A C downstream_gene_variant SKCM-US 5 137533900 137533900 single base substitution A C exon_variant SKCM-US 5 137533900 137533900 single base substitution A C missense_variant C334G 1000T>G SKCM-US 5 137533959 137533959 single base substitution G A downstream_gene_variant SKCM-US 5 137533959 137533959 single base substitution G A exon_variant SKCM-US 5 137533959 137533959 single base substitution G A missense_variant S314L 941C>T SKCM-US 5 137537132 137537132 single base substitution G A 3_prime_UTR_variant SKCM-US 5 137537132 137537132 single base substitution G A downstream_gene_variant SKCM-US 5 137537132 137537132 single base substitution G A exon_variant SKCM-US 5 137537132 137537132 single base substitution G A synonymous_variant L141L 421C>T SKCM-US 5 137537132 137537132 single base substitution G A upstream_gene_variant SKCM-US 5 137542246 137542246 single base substitution G A exon_variant SKCM-US 5 137542246 137542246 single base substitution G A missense_variant P120S 358C>T SKCM-US 5 137542246 137542246 single base substitution G A missense_variant S121F 362C>T STAD-US 5 137518869 137518869 single base substitution C T downstream_gene_variant STAD-US 5 137518981 137518981 single base substitution C T downstream_gene_variant STAD-US 5 137519413 137519413 deletion of <=200bp G - downstream_gene_variant STAD-US 5 137519724 137519724 single base substitution G T downstream_gene_variant STAD-US 5 137520324 137520324 single base substitution G A downstream_gene_variant STAD-US 5 137521329 137521329 single base substitution C T downstream_gene_variant STAD-US 5 137521738 137521738 single base substitution G A downstream_gene_variant STAD-US 5 137525405 137525405 single base substitution G A exon_variant STAD-US 5 137525405 137525405 single base substitution G A missense_variant R514C 1540C>T STAD-US 5 137527970 137527970 single base substitution G A exon_variant STAD-US 5 137527970 137527970 single base substitution G A missense_variant A425V 1274C>T STAD-US 5 137527970 137527970 single base substitution G A upstream_gene_variant STAD-US 5 137533902 137533902 single base substitution G A downstream_gene_variant STAD-US 5 137533902 137533902 single base substitution G A exon_variant STAD-US 5 137533902 137533902 single base substitution G A missense_variant T333M 998C>T STAD-US 5 137533959 137533959 single base substitution G A downstream_gene_variant STAD-US 5 137533959 137533959 single base substitution G A exon_variant STAD-US 5 137533959 137533959 single base substitution G A missense_variant S314L 941C>T STAD-US 5 137534434 137534437 deletion of <=200bp TCTT - downstream_gene_variant STAD-US 5 137534434 137534437 deletion of <=200bp TCTT - frameshift_variant KE230 STAD-US 5 137534434 137534437 deletion of <=200bp TCTT - upstream_gene_variant STAD-US 5 137537824 137537824 single base substitution G A downstream_gene_variant STAD-US 5 137537824 137537824 single base substitution G A exon_variant STAD-US 5 137537824 137537824 single base substitution G A intron_variant STAD-US 5 137537824 137537824 single base substitution G A synonymous_variant D131D 393C>T STAD-US 5 137537824 137537824 single base substitution G A upstream_gene_variant STAD-US 5 137548983 137548983 single base substitution T C exon_variant STAD-US 5 137548983 137548983 single base substitution T C missense_variant M7V 19A>G STAD-US 5 137548983 137548983 single base substitution T C upstream_gene_variant THCA-SA 5 137523318 137523318 single base substitution A G downstream_gene_variant THCA-US 5 137524750 137524750 single base substitution A G downstream_gene_variant THCA-US 5 137524750 137524750 single base substitution A G exon_variant THCA-US 5 137524750 137524750 single base substitution A G missense_variant F571L 1711T>C UCEC-US 5 137520075 137520075 single base substitution C A downstream_gene_variant UCEC-US 5 137520620 137520620 single base substitution G A downstream_gene_variant UCEC-US 5 137521300 137521300 single base substitution C T downstream_gene_variant UCEC-US 5 137521312 137521312 single base substitution T C downstream_gene_variant UCEC-US 5 137524780 137524780 single base substitution C T downstream_gene_variant UCEC-US 5 137524780 137524780 single base substitution C T exon_variant UCEC-US 5 137524780 137524780 single base substitution C T missense_variant E561K 1681G>A UCEC-US 5 137533968 137533968 single base substitution C A downstream_gene_variant UCEC-US 5 137533968 137533968 single base substitution C A missense_variant S311I 932G>T UCEC-US 5 137533968 137533968 single base substitution C A splice_region_variant UCEC-US 5 137534408 137534408 single base substitution C A downstream_gene_variant UCEC-US 5 137534408 137534408 single base substitution C A stop_gained E240* 718G>T UCEC-US 5 137534408 137534408 single base substitution C A upstream_gene_variant UCEC-US 5 137536911 137536911 single base substitution C T 3_prime_UTR_variant UCEC-US 5 137536911 137536911 single base substitution C T downstream_gene_variant UCEC-US 5 137536911 137536911 single base substitution C T exon_variant UCEC-US 5 137536911 137536911 single base substitution C T missense_variant R180Q 539G>A UCEC-US 5 137536911 137536911 single base substitution C T upstream_gene_variant UCEC-US 5 137537104 137537104 single base substitution G A 3_prime_UTR_variant UCEC-US 5 137537104 137537104 single base substitution G A downstream_gene_variant UCEC-US 5 137537104 137537104 single base substitution G A exon_variant UCEC-US 5 137537104 137537104 single base substitution G A missense_variant A150V 449C>T UCEC-US 5 137537104 137537104 single base substitution G A upstream_gene_variant UCEC-US 5 137542299 137542299 single base substitution T C exon_variant UCEC-US 5 137542299 137542299 single base substitution T C missense_variant H102R 305A>G UCEC-US 5 137542299 137542299 single base substitution T C synonymous_variant A103A 309A>G UCEC-US 5 137542342 137542342 single base substitution A G exon_variant UCEC-US 5 137542342 137542342 single base substitution A G missense_variant L89P 266T>C UCEC-US 5 137542342 137542342 single base substitution A G missense_variant W88R 262T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Patient_5_Relapse COSM5415161 c.72C>A p.S24R Substitution - Missense 5:138213241-138213241 - TCGA-F1-6874-01 COSM3850390 c.941C>T p.S314L Substitution - Missense 5:138198270-138198270 - 37 COSM3721191 c.1770C>G p.L590L Substitution - coding silent 5:138189002-138189002 - B110 COSM1753992 c.811G>T p.V271F Substitution - Missense 5:138198626-138198626 - SC_9092 COSM3373672 c.1711T>C p.F571L Substitution - Missense 5:138189061-138189061 - ESO-151 COSM1247746 c.1340_1341insA p.N447fs*32 Insertion - Frameshift 5:138191883-138191884 - TCGA-AP-A051-01 COSM1061273 c.449C>T p.A150V Substitution - Missense 5:138201415-138201415 - TCGA-HC-7230-01 COSM3373672 c.1711T>C p.F571L Substitution - Missense 5:138189061-138189061 - TCGA-B5-A0JZ-01 COSM1061261 c.1535C>T p.A512V Substitution - Missense 5:138189721-138189721 - Pat_41_B COSM5867367 c.1192G>A p.D398N Substitution - Missense 5:138192363-138192363 - YUKAT COSM5402180 c.299A>G p.D100G Substitution - Missense 5:138206620-138206620 - TCGA-D9-A6EC-06 COSM3850390 c.941C>T p.S314L Substitution - Missense 5:138198270-138198270 - TCGA-ER-A193-06 COSM3608905 c.1000T>G p.C334G Substitution - Missense 5:138198211-138198211 - I2L-P19Tb-Tumor-Organoid COSM5356315 c.1363-6delT p.? Unknown 5:138191541-138191541 - SNU-C2B COSM3237121 c.1171G>A p.A391T Substitution - Missense 5:138192384-138192384 - TCGA-BP-4782-01 COSM481993 c.1703C>G p.P568R Substitution - Missense 5:138189069-138189069 - T3118 COSM4670645 c.483_484insA p.H162fs*7 Insertion - Frameshift 5:138201380-138201381 - TCGA-29-1777-01 COSM1328264 c.1549G>A p.A517T Substitution - Missense 5:138189707-138189707 - Pat_41_B COSM5867366 c.1199G>A p.R400K Substitution - Missense 5:138192356-138192356 - TCGA-AP-A059-01 COSM1061266 c.718G>T p.E240* Substitution - Nonsense 5:138198719-138198719 - TCGA-AA-3510-01 COSM1433344 c.1031G>A p.R344H Substitution - Missense 5:138192639-138192639 - 2521259 COSM4536906 c.235G>A p.E79K Substitution - Missense 5:138206684-138206684 - HT29 COSM1671896 c.733G>T p.E245* Substitution - Nonsense 5:138198704-138198704 - B34 COSM1433344 c.1031G>A p.R344H Substitution - Missense 5:138192639-138192639 - T3262 COSM4670643 c.1758_1759delAG p.R586fs*>12 Deletion - Frameshift 5:138189013-138189014 - ESCC_BICR_060T COSM5435111 c.1730T>G p.L577R Substitution - Missense 5:138189042-138189042 - TCGA-33-4566-01 COSM735564 c.351G>T p.L117L Substitution - coding silent 5:138206568-138206568 - YUBAN COSM1696220 c.340G>T p.A114S Substitution - Missense 5:138206579-138206579 - PT42 COSM3237138 c.522-5C>T p.? Unknown 5:138201244-138201244 - TCGA-AA-A010-01 COSM279739 c.1486G>T p.D496Y Substitution - Missense 5:138189845-138189845 - 169 COSM3728882 c.1363-6_1363-5insT p.? Unknown 5:138191540-138191541 - I2L-P19Tb-Tumor-Biopsy COSM5356315 c.1363-6delT p.? Unknown 5:138191541-138191541 - ID08 COSM1166655 c.694T>C p.F232L Substitution - Missense 5:138198743-138198743 - TCGA-BS-A0UV-01 COSM1061259 c.1681G>A p.E561K Substitution - Missense 5:138189091-138189091 - PD9000a COSM5775673 c.322G>C p.G108R Substitution - Missense 5:138206597-138206597 - TCGA-ER-A19P-06 COSM735565 c.1255C>A p.L419I Substitution - Missense 5:138192300-138192300 - TCGA-EB-A5SE-01 COSM3608903 c.1065G>A p.Q355Q Substitution - coding silent 5:138192605-138192605 - B64-Tumor COSM1433343 c.1301G>A p.R434H Substitution - Missense 5:138191923-138191923 - SC_9081 COSM5565902 c.1190G>A p.R397Q Substitution - Missense 5:138192365-138192365 - TCGA-BR-4184-01 COSM3850388 c.1274C>T p.A425V Substitution - Missense 5:138192281-138192281 - AOCS-112-1-2 COSM4141424 c.161+9T>G p.? Unknown 5:138213143-138213143 - C037 COSM5524348 c.801C>T p.S267S Substitution - coding silent 5:138198636-138198636 - B34-Tumor COSM1433344 c.1031G>A p.R344H Substitution - Missense 5:138192639-138192639 - 16 COSM3735687 c.131G>T p.R44L Substitution - Missense 5:138213182-138213182 - B110-Tumor COSM1753992 c.811G>T p.V271F Substitution - Missense 5:138198626-138198626 - TCGA-D9-A6EC-06 COSM4400686 c.421C>T p.L141L Substitution - coding silent 5:138201443-138201443 - pfg129T COSM1061273 c.449C>T p.A150V Substitution - Missense 5:138201415-138201415 - EGC15 COSM5060643 c.1088G>A p.R363Q Substitution - Missense 5:138192582-138192582 - TCGA-AP-A056-01 COSM1061275 c.309A>G p.A103A Substitution - coding silent 5:138206610-138206610 - TCGA-AP-A059-01 COSM1061263 c.932G>T p.S311I Substitution - Missense 5:138198279-138198279 - CPCG0259-F1 COSM4880006 c.1650C>T p.L550L Substitution - coding silent 5:138189122-138189122 - TCGA-BR-4362-01 COSM3850387 c.1540C>T p.R514C Substitution - Missense 5:138189716-138189716 - SC_9054 COSM5549739 c.1173C>A p.A391A Substitution - coding silent 5:138192382-138192382 - ESO-K08 COSM1247748 c.888G>T p.R296S Substitution - Missense 5:138198468-138198468 - HCC058T COSM5805279 c.943G>T p.E315* Substitution - Nonsense 5:138198268-138198268 - HCA7 COSM4630984 c.1477T>C p.Y493H Substitution - Missense 5:138189854-138189854 - 587376 COSM1200348 c.1034C>A p.S345Y Substitution - Missense 5:138192636-138192636 - 587350 COSM1200346 c.1613C>T p.A538V Substitution - Missense 5:138189643-138189643 - TCGA-19-2631-01 COSM3409758 c.119C>T p.A40V Substitution - Missense 5:138213194-138213194 - QC2-03-T2 COSM5651709 c.1440G>T p.L480F Substitution - Missense 5:138189891-138189891 - TCGA-AA-3510-01 COSM1433345 c.938A>C p.K313T Substitution - Missense 5:138198273-138198273 - T3094 COSM4670647 c.197C>A p.P66H Substitution - Missense 5:138213028-138213028 - T2269 COSM4670644 c.1714T>G p.F572V Substitution - Missense 5:138189058-138189058 - TCGA-14-1043-01 COSM3748286 c.1784T>C p.V595A Substitution - Missense 5:138188988-138188988 - T469 COSM3850390 c.941C>T p.S314L Substitution - Missense 5:138198270-138198270 - CX-1 COSM1671896 c.733G>T p.E245* Substitution - Nonsense 5:138198704-138198704 - TCGA-A2-A0T5-01 COSM3826836 c.1744A>C p.T582P Substitution - Missense 5:138189028-138189028 - TCGA-AA-A00N-01 COSM274455 c.1239G>T p.K413N Substitution - Missense 5:138192316-138192316 - TCGA-D1-A17Q-01 COSM1061271 c.539G>A p.R180Q Substitution - Missense 5:138201222-138201222 - HCT8 COSM4635196 c.1456G>A p.A486T Substitution - Missense 5:138189875-138189875 - cSCCP4 COSM143510 c.1190_1191GG>AA p.R397Q Substitution - Missense 5:138192364-138192365 - 587342 COSM1200347 c.1462C>A p.Q488K Substitution - Missense 5:138189869-138189869 - TCGA-CA-6717-01 COSM1433343 c.1301G>A p.R434H Substitution - Missense 5:138191923-138191923 - TCGA-AA-A010-01 COSM279741 c.415+5G>A p.? Unknown 5:138202108-138202108 - LC_S6 COSM1190772 c.1618delA p.N540fs*>58 Deletion - Frameshift 5:138189638-138189638 - PD14435a COSM5790443 c.818A>G p.Y273C Substitution - Missense 5:138198619-138198619 - T3152 COSM4670646 c.386delA p.K129fs*10 Deletion - Frameshift 5:138202142-138202142 - TCGA-D3-A2JF-06 COSM3608914 c.362C>T p.S121F Substitution - Missense 5:138206557-138206557 - 1N05-VS-1T05 COSM4972893 c.1089G>C p.R363R Substitution - coding silent 5:138192581-138192581 - CSCC-35-T COSM4470897 c.1688C>T p.P563L Substitution - Missense 5:138189084-138189084 - sysucc-311T COSM279741 c.415+5G>A p.? Unknown 5:138202108-138202108 - C0081T COSM4155466 c.1293T>C p.N431N Substitution - coding silent 5:138191931-138191931 - AA1934 COSM4168459 c.122G>T p.G41V Substitution - Missense 5:138213191-138213191 - PR-00-1165 COSM243572 c.1626C>A p.T542T Substitution - coding silent 5:138189146-138189146 - WA56 COSM237166 c.990T>C p.R330R Substitution - coding silent 5:138198221-138198221 - 951_T COSM3946870 c.1697A>C p.E566A Substitution - Missense 5:138189075-138189075 - HT-29 COSM1671896 c.733G>T p.E245* Substitution - Nonsense 5:138198704-138198704 - PT55 COSM5941945 c.1522G>A p.E508K Substitution - Missense 5:138189734-138189734 - KYSE-450 COSM3237113 c.1538T>G p.F513C Substitution - Missense 5:138189718-138189718 - TCGA-18-3415-01 COSM735565 c.1255C>A p.L419I Substitution - Missense 5:138192300-138192300 - TCGA-Q1-A73O-01 COSM4835855 c.762C>G p.L254L Substitution - coding silent 5:138198675-138198675 - KYSE-410 COSM3237125 c.988C>T p.R330C Substitution - Missense 5:138198223-138198223 - TCGA-56-5898-01 COSM735566 c.1710C>G p.P570P Substitution - coding silent 5:138189062-138189062 - TCGA-BR-8372-01 COSM3850393 c.393C>T p.D131D Substitution - coding silent 5:138202135-138202135 - TCGA-BC-A3KF-01 COSM4927874 c.483A>G p.K161K Substitution - coding silent 5:138201381-138201381 - CSCC-38-T COSM4536906 c.235G>A p.E79K Substitution - Missense 5:138206684-138206684 - TCGA-AD-6889-01 COSM1433346 c.699_700insT p.L234fs*23 Insertion - Frameshift 5:138198737-138198738 - N170T COSM236073 c.1384G>A p.V462M Substitution - Missense 5:138191514-138191514 - TCGA-FY-A3R7-01 COSM3373672 c.1711T>C p.F571L Substitution - Missense 5:138189061-138189061 - TCGA-AA-A010-01 COSM279740 c.1166+2T>G p.? Unknown 5:138192502-138192502 - PT35 COSM5912194 c.857T>C p.F286S Substitution - Missense 5:138198499-138198499 - TCGA-A6-5665-01 COSM1433347 c.302G>T p.R101L Substitution - Missense 5:138206617-138206617 - TCGA-CG-5721-01 COSM3850389 c.998C>T p.T333M Substitution - Missense 5:138198213-138198213 - SWE-2A COSM1178199 c.474C>A p.L158L Substitution - coding silent 5:138201390-138201390 - ESO-0129 COSM1247747 c.774C>T p.G258G Substitution - coding silent 5:138198663-138198663 - TCGA-CD-A486-01 COSM3850396 c.19A>G p.M7V Substitution - Missense 5:138213294-138213294 - TCGA-D1-A17H-01 COSM1061277 c.266T>C p.L89P Substitution - Missense 5:138206653-138206653 - TCGA-CJ-6027-01 COSM481995 c.251T>C p.M84T Substitution - Missense 5:138206668-138206668 - TCGA-EI-7002-01 COSM3749902 c.69C>A p.N23K Substitution - Missense 5:138213244-138213244 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.73625 5q31 603462 2432643|CGAP|BC017713|A/T|non-coding||1964|Candidate; 2432645|CGAP|BC017713|A/G|non-coding||3020|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C334G c.1000T>G 5 137533900 CM A G Missense p.L89P c.266T>C 5 137542342 UCEC A G Missense p.M84T c.251T>C 5 137542357 RCCC A G Missense p.V595A c.1784T>C 5 137524677 GBM A T 3-UTRSNV . c.1791+53T>A 5 137524617 HC C A Missense p.R296S c.888G>T 5 137534157 ESCA C G Synonymous p.L117L c.351G>C 5 137542257 COREAD C T IntronicSNV . c.372+37G>A 5 137542199 BRCA G A Missense p.A40V c.119C>T 5 137548883 GBM G A Missense p.P200L c.599C>T 5 137536851 CM G A Missense p.S121F c.362C>T 5 137542246 CM G A Missense p.S314L c.941C>T 5 137533959 STAD G A Nonsense p.R429* c.1285C>T 5 137527959 LUAD G A Synonymous p.A90A c.270C>T 5 137542338 LUAD G A Synonymous p.G258G c.774C>T 5 137534352 ESCA G C Missense p.L446V c.1336C>G 5 137527577 COREAD G C Missense p.P568R c.1703C>G 5 137524758 RCCC G C Synonymous p.P570P c.1710C>G 5 137524751 LUSC G T Missense p.L419I c.1255C>A 5 137527989 CM G T Missense p.L419I c.1255C>A 5 137527989 LUSC T A Missense p.I76F c.226A>T 5 137548688 HNSC T C Synonymous p.S576S c.1728A>G 5 137524733 LUAD - T Frameshift p.N447Kfs*32 c.1340dupA 5 137527573 ESCA