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 12 110812022 110812022 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr12:110812022T>C c.1727A>G c.(1726-1728)gAa>gGa p.E576G BLCA 12 110819630 110819630 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr12:110819630G>A c.1161C>T c.(1159-1161)ggC>ggT p.G387G BLCA 12 110824155 110824155 + Missense_Mutation SNP A A G TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr12:110824155A>G c.896T>C c.(895-897)aTg>aCg p.M299T BLCA 12 110825668 110825668 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr12:110825668C>G c.652G>C c.(652-654)Gag>Cag p.E218Q BLCA 12 110826320 110826320 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr12:110826320G>C c.619C>G c.(619-621)Cta>Gta p.L207V BLCA 12 110832921 110832921 + Silent SNP T T C TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr12:110832921T>C c.495A>G c.(493-495)agA>agG p.R165R BLCA 12 110832930 110832930 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:110832930G>C c.486C>G c.(484-486)atC>atG p.I162M BLCA 12 110834208 110834208 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr12:110834208C>G c.253G>C c.(253-255)Gat>Cat p.D85H BRCA 12 110813984 110813984 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:110813984C>T c.1497G>A c.(1495-1497)ctG>ctA p.L499L BRCA 12 110815309 110815309 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 g.chr12:110815309C>T c.1348G>A c.(1348-1350)Gtt>Att p.V450I BRCA 12 110815414 110815414 + Missense_Mutation SNP C C T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr12:110815414C>T c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K BRCA 12 110819687 110819687 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr12:110819687C>T c.1104G>A c.(1102-1104)ctG>ctA p.L368L BRCA 12 110832986 110832986 + Missense_Mutation SNP C C T TCGA-B6-A0RV-01A-11D-A099-09 TCGA-B6-A0RV-10A-01D-A099-09 g.chr12:110832986C>T c.430G>A c.(430-432)Gaa>Aaa p.E144K BRCA 12 110834204 110834204 + Missense_Mutation SNP G G A TCGA-AO-A1KS-01A-11D-A13L-09 TCGA-AO-A1KS-10A-01W-A14R-09 g.chr12:110834204G>A c.257C>T c.(256-258)tCt>tTt p.S86F CESC 12 110819749 110819749 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 g.chr12:110819749G>C c.1042C>G c.(1042-1044)Cac>Gac p.H348D COAD 12 110815360 110815360 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:110815360C>T c.1297G>A c.(1297-1299)Gtt>Att p.V433I COAD 12 110815362 110815362 + Missense_Mutation SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr12:110815362T>C c.1295A>G c.(1294-1296)aAc>aGc p.N432S COAD 12 110819603 110819603 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:110819603A>G c.1188T>C c.(1186-1188)ttT>ttC p.F396F COAD 12 110820736 110820736 + Nonsense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:110820736G>A c.949C>T c.(949-951)Cga>Tga p.R317* COAD 12 110825595 110825595 + Missense_Mutation SNP G G A TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr12:110825595G>A c.725C>T c.(724-726)gCg>gTg p.A242V COAD 12 110826370 110826370 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:110826370G>A c.569C>T c.(568-570)aCc>aTc p.T190I COAD 12 110832966 110832966 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:110832966delT c.450delA c.(448-450)aaafs p.K150fs COADREAD 12 110811952 110811952 + Silent SNP C C T TCGA-AG-A00Y-01A-02W-A005-10 TCGA-AG-A00Y-10A-01W-A005-10 g.chr12:110811952C>T c.1797G>A c.(1795-1797)caG>caA p.Q599Q COADREAD 12 110815360 110815360 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:110815360C>T c.1297G>A c.(1297-1299)Gtt>Att p.V433I COADREAD 12 110815362 110815362 + Missense_Mutation SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr12:110815362T>C c.1295A>G c.(1294-1296)aAc>aGc p.N432S COADREAD 12 110819603 110819603 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:110819603A>G c.1188T>C c.(1186-1188)ttT>ttC p.F396F COADREAD 12 110820736 110820736 + Nonsense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:110820736G>A c.949C>T c.(949-951)Cga>Tga p.R317* COADREAD 12 110825595 110825595 + Missense_Mutation SNP G G A TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr12:110825595G>A c.725C>T c.(724-726)gCg>gTg p.A242V COADREAD 12 110826370 110826370 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr12:110826370G>A c.569C>T c.(568-570)aCc>aTc p.T190I COADREAD 12 110832966 110832966 + Frame_Shift_Del DEL T T - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:110832966delT c.450delA c.(448-450)aaafs p.K150fs ESCA 12 110813935 110813935 + Missense_Mutation SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr12:110813935C>T c.1546G>A c.(1546-1548)Gga>Aga p.G516R ESCA 12 110824211 110824211 + Silent SNP C C T TCGA-L5-A4OX-01A-21D-A28B-09 TCGA-L5-A4OX-11A-13D-A28E-09 g.chr12:110824211C>T c.840G>A c.(838-840)ctG>ctA p.L280L GBM 12 110825638 110825638 + Nonsense_Mutation SNP G G A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 g.chr12:110825638G>A c.682C>T c.(682-684)Caa>Taa p.Q228* GBMLGG 12 110824234 110824234 + Missense_Mutation SNP G G C TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr12:110824234G>C c.817C>G c.(817-819)Cta>Gta p.L273V GBMLGG 12 110825638 110825638 + Nonsense_Mutation SNP G G A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 g.chr12:110825638G>A c.682C>T c.(682-684)Caa>Taa p.Q228* HNSC 12 110834183 110834183 + Missense_Mutation SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr12:110834183T>C c.278A>G c.(277-279)tAt>tGt p.Y93C KIPAN 12 110813921 110813921 + Silent SNP T T C TCGA-A4-8518-01A-11D-2396-08 TCGA-A4-8518-10A-01D-2396-08 g.chr12:110813921T>C c.1560A>G c.(1558-1560)gtA>gtG p.V520V KIPAN 12 110815266 110815266 + Nonsense_Mutation SNP A A T TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr12:110815266A>T c.1391T>A c.(1390-1392)tTa>tAa p.L464* KIPAN 12 110820691 110820691 + Missense_Mutation SNP A A T TCGA-B0-4718-01A-01D-1361-10 TCGA-B0-4718-11A-01D-1361-10 g.chr12:110820691A>T c.994T>A c.(994-996)Ttc>Atc p.F332I KIPAN 12 110825587 110825587 + Missense_Mutation SNP A A T TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr12:110825587A>T c.733T>A c.(733-735)Ttt>Att p.F245I KIPAN 12 110825591 110825591 + Silent SNP A A G TCGA-CJ-4870-01A-01D-1373-10 TCGA-CJ-4870-11A-01D-1373-10 g.chr12:110825591A>G c.729T>C c.(727-729)taT>taC p.Y243Y KIRC 12 110815266 110815266 + Nonsense_Mutation SNP A A T TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr12:110815266A>T c.1391T>A c.(1390-1392)tTa>tAa p.L464* KIRC 12 110820691 110820691 + Missense_Mutation SNP A A T TCGA-B0-4718-01A-01D-1361-10 TCGA-B0-4718-11A-01D-1361-10 g.chr12:110820691A>T c.994T>A c.(994-996)Ttc>Atc p.F332I KIRC 12 110825591 110825591 + Silent SNP A A G TCGA-CJ-4870-01A-01D-1373-10 TCGA-CJ-4870-11A-01D-1373-10 g.chr12:110825591A>G c.729T>C c.(727-729)taT>taC p.Y243Y KIRP 12 110813921 110813921 + Silent SNP T T C TCGA-A4-8518-01A-11D-2396-08 TCGA-A4-8518-10A-01D-2396-08 g.chr12:110813921T>C c.1560A>G c.(1558-1560)gtA>gtG p.V520V KIRP 12 110825587 110825587 + Missense_Mutation SNP A A T TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr12:110825587A>T c.733T>A c.(733-735)Ttt>Att p.F245I LGG 12 110824234 110824234 + Missense_Mutation SNP G G C TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr12:110824234G>C c.817C>G c.(817-819)Cta>Gta p.L273V LIHC 12 110812008 110812008 + Missense_Mutation SNP C C T TCGA-DD-AACF-01A-11D-A40R-10 TCGA-DD-AACF-10A-01D-A40U-10 g.chr12:110812008C>T c.1741G>A c.(1741-1743)Ggc>Agc p.G581S LIHC 12 110812082 110812082 + Missense_Mutation SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr12:110812082T>C c.1667A>G c.(1666-1668)gAg>gGg p.E556G LIHC 12 110819712 110819712 + Missense_Mutation SNP T T C TCGA-G3-A5SL-01A-11D-A27I-10 TCGA-G3-A5SL-10A-01D-A27I-10 g.chr12:110819712T>C c.1079A>G c.(1078-1080)tAt>tGt p.Y360C LIHC 12 110826388 110826388 + Missense_Mutation SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr12:110826388T>C c.551A>G c.(550-552)cAg>cGg p.Q184R LUAD 12 110813919 110813919 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 g.chr12:110813919G>A c.1562C>T c.(1561-1563)gCt>gTt p.A521V LUAD 12 110815423 110815423 + Splice_Site SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr12:110815423C>A c.e9-1 LUAD 12 110819591 110819591 + Missense_Mutation SNP T T C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr12:110819591T>C c.1200A>G c.(1198-1200)atA>atG p.I400M LUAD 12 110819628 110819628 + Missense_Mutation SNP C C A TCGA-17-Z011-01A-01W-0746-08 TCGA-17-Z011-11A-01W-0746-08 g.chr12:110819628C>A c.1163G>T c.(1162-1164)aGa>aTa p.R388I LUAD 12 110820696 110820696 + Missense_Mutation SNP C C T TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr12:110820696C>T c.989G>A c.(988-990)cGc>cAc p.R330H LUAD 12 110825555 110825555 + Silent SNP G G A TCGA-05-4244-01A-01D-1105-08 TCGA-05-4244-10A-01D-1105-08 g.chr12:110825555G>A c.765C>T c.(763-765)atC>atT p.I255I LUSC 12 110834113 110834113 + Silent SNP C C A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr12:110834113C>A c.348G>T c.(346-348)gtG>gtT p.V116V PAAD 12 110815272 110815272 + Missense_Mutation SNP T T C TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 g.chr12:110815272T>C c.1385A>G c.(1384-1386)aAa>aGa p.K462R PCPG 12 110825686 110825686 + Frame_Shift_Del DEL G G - TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 g.chr12:110825686delG c.634delC c.(634-636)cttfs p.L212fs PCPG 12 110834213 110834213 + Missense_Mutation SNP T T G TCGA-P7-A5NX-01A-11D-A35D-08 TCGA-P7-A5NX-10A-01D-A35B-08 g.chr12:110834213T>G c.248A>C c.(247-249)cAt>cCt p.H83P PRAD 12 110815420 110815420 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:110815420G>A c.1237C>T c.(1237-1239)Ctt>Ttt p.L413F READ 12 110811952 110811952 + Silent SNP C C T TCGA-AG-A00Y-01A-02W-A005-10 TCGA-AG-A00Y-10A-01W-A005-10 g.chr12:110811952C>T c.1797G>A c.(1795-1797)caG>caA p.Q599Q SKCM 12 110812041 110812041 + Missense_Mutation SNP T T A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 g.chr12:110812041T>A c.1708A>T c.(1708-1710)Atg>Ttg p.M570L SKCM 12 110812066 110812066 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:110812066G>A c.1683C>T c.(1681-1683)gcC>gcT p.A561A SKCM 12 110812092 110812092 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr12:110812092C>T c.1657G>A c.(1657-1659)Gag>Aag p.E553K SKCM 12 110815261 110815261 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr12:110815261C>T c.1396G>A c.(1396-1398)Gat>Aat p.D466N SKCM 12 110819677 110819677 + Missense_Mutation SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr12:110819677T>C c.1114A>G c.(1114-1116)Agt>Ggt p.S372G SKCM 12 110824147 110824147 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:110824147G>A c.904C>T c.(904-906)Cct>Tct p.P302S SKCM 12 110824147 110824147 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr12:110824147G>A c.904C>T c.(904-906)Cct>Tct p.P302S SKCM 12 110841400 110841400 + Silent SNP C C G TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr12:110841400C>G c.135G>C c.(133-135)gcG>gcC p.A45A

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 12 110820721 110820721 single base substitution C G downstream_gene_variant BLCA-CN 12 110820721 110820721 single base substitution C G exon_variant BLCA-CN 12 110820721 110820721 single base substitution C G missense_variant E322Q 964G>C BLCA-CN 12 110820721 110820721 single base substitution C G upstream_gene_variant BLCA-US 12 110825668 110825668 single base substitution C G 3_prime_UTR_variant BLCA-US 12 110825668 110825668 single base substitution C G exon_variant BLCA-US 12 110825668 110825668 single base substitution C G missense_variant E218Q 652G>C BLCA-US 12 110825668 110825668 single base substitution C G upstream_gene_variant BLCA-US 12 110826320 110826320 single base substitution G C 3_prime_UTR_variant BLCA-US 12 110826320 110826320 single base substitution G C exon_variant BLCA-US 12 110826320 110826320 single base substitution G C intron_variant BLCA-US 12 110826320 110826320 single base substitution G C missense_variant L207V 619C>G BLCA-US 12 110826320 110826320 single base substitution G C upstream_gene_variant BOCA-FR 12 110826459 110826459 single base substitution T C intron_variant BOCA-FR 12 110826459 110826459 single base substitution T C upstream_gene_variant BRCA-EU 12 110805766 110805766 single base substitution G A downstream_gene_variant BRCA-EU 12 110806063 110806063 single base substitution G C downstream_gene_variant BRCA-EU 12 110807444 110807444 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 110808748 110808748 single base substitution G T downstream_gene_variant BRCA-EU 12 110809804 110809804 single base substitution G C downstream_gene_variant BRCA-EU 12 110810432 110810432 single base substitution C G downstream_gene_variant BRCA-EU 12 110810643 110810643 single base substitution G C downstream_gene_variant BRCA-EU 12 110812424 110812424 single base substitution C T downstream_gene_variant BRCA-EU 12 110812424 110812424 single base substitution C T intron_variant BRCA-EU 12 110815102 110815102 single base substitution C G downstream_gene_variant BRCA-EU 12 110815102 110815102 single base substitution C G intron_variant BRCA-EU 12 110816335 110816335 single base substitution G C intron_variant BRCA-EU 12 110816335 110816335 single base substitution G C upstream_gene_variant BRCA-EU 12 110818585 110818585 single base substitution C T intron_variant BRCA-EU 12 110818585 110818585 single base substitution C T upstream_gene_variant BRCA-EU 12 110818817 110818817 single base substitution A G intron_variant BRCA-EU 12 110818817 110818817 single base substitution A G upstream_gene_variant BRCA-EU 12 110819139 110819139 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 110819139 110819139 deletion of <=200bp G - intron_variant BRCA-EU 12 110819139 110819139 deletion of <=200bp G - upstream_gene_variant BRCA-EU 12 110821097 110821097 single base substitution G C downstream_gene_variant BRCA-EU 12 110821097 110821097 single base substitution G C intron_variant BRCA-EU 12 110821097 110821097 single base substitution G C upstream_gene_variant BRCA-EU 12 110822457 110822457 single base substitution C G downstream_gene_variant BRCA-EU 12 110822457 110822457 single base substitution C G intron_variant BRCA-EU 12 110822457 110822457 single base substitution C G upstream_gene_variant BRCA-EU 12 110826222 110826222 deletion of <=200bp A - intron_variant BRCA-EU 12 110826222 110826222 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 110826311 110826311 single base substitution C T intron_variant BRCA-EU 12 110826311 110826311 single base substitution C T splice_region_variant BRCA-EU 12 110826311 110826311 single base substitution C T upstream_gene_variant BRCA-EU 12 110826449 110826449 single base substitution G C intron_variant BRCA-EU 12 110826449 110826449 single base substitution G C upstream_gene_variant BRCA-EU 12 110827399 110827399 single base substitution A C intron_variant BRCA-EU 12 110827399 110827399 single base substitution A C upstream_gene_variant BRCA-EU 12 110830498 110830500 deletion of <=200bp AAA - intron_variant BRCA-EU 12 110830610 110830610 insertion of <=200bp - T intron_variant BRCA-EU 12 110830833 110830833 single base substitution C G intron_variant BRCA-EU 12 110831223 110831223 single base substitution C T intron_variant BRCA-EU 12 110832738 110832738 single base substitution C T intron_variant BRCA-EU 12 110832801 110832801 single base substitution C A intron_variant BRCA-EU 12 110833223 110833223 single base substitution G A intron_variant BRCA-EU 12 110833297 110833297 single base substitution T C intron_variant BRCA-EU 12 110833579 110833579 single base substitution G A intron_variant BRCA-EU 12 110833755 110833755 single base substitution G C intron_variant BRCA-EU 12 110834389 110834389 single base substitution C T intron_variant BRCA-EU 12 110834389 110834389 single base substitution C T upstream_gene_variant BRCA-EU 12 110835013 110835013 deletion of <=200bp A - intron_variant BRCA-EU 12 110835013 110835013 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 110835679 110835679 single base substitution G A intron_variant BRCA-EU 12 110835679 110835679 single base substitution G A upstream_gene_variant BRCA-EU 12 110837268 110837268 single base substitution A T intron_variant BRCA-EU 12 110837268 110837268 single base substitution A T upstream_gene_variant BRCA-EU 12 110838745 110838745 single base substitution C T intron_variant BRCA-EU 12 110838745 110838745 single base substitution C T upstream_gene_variant BRCA-EU 12 110839274 110839274 single base substitution G C intron_variant BRCA-EU 12 110839274 110839274 single base substitution G C upstream_gene_variant BRCA-EU 12 110840108 110840108 single base substitution G A intron_variant BRCA-EU 12 110841002 110841002 single base substitution G C intron_variant BRCA-EU 12 110841629 110841629 single base substitution T A upstream_gene_variant BRCA-EU 12 110841755 110841755 single base substitution C A upstream_gene_variant BRCA-EU 12 110842369 110842369 single base substitution G T upstream_gene_variant BRCA-EU 12 110842468 110842468 single base substitution G A upstream_gene_variant BRCA-EU 12 110843043 110843043 single base substitution G A upstream_gene_variant BRCA-EU 12 110844050 110844050 single base substitution C G upstream_gene_variant BRCA-EU 12 110845476 110845476 single base substitution A T upstream_gene_variant BRCA-EU 12 110845592 110845592 single base substitution G T upstream_gene_variant BRCA-FR 12 110821097 110821097 single base substitution G C downstream_gene_variant BRCA-FR 12 110821097 110821097 single base substitution G C intron_variant BRCA-FR 12 110821097 110821097 single base substitution G C upstream_gene_variant BRCA-FR 12 110826449 110826449 single base substitution G C intron_variant BRCA-FR 12 110826449 110826449 single base substitution G C upstream_gene_variant BRCA-FR 12 110832801 110832801 single base substitution C A intron_variant BRCA-FR 12 110834389 110834389 single base substitution C T intron_variant BRCA-FR 12 110834389 110834389 single base substitution C T upstream_gene_variant BRCA-FR 12 110839274 110839274 single base substitution G C intron_variant BRCA-FR 12 110839274 110839274 single base substitution G C upstream_gene_variant BRCA-UK 12 110812083 110812083 single base substitution C T downstream_gene_variant BRCA-UK 12 110812083 110812083 single base substitution C T exon_variant BRCA-UK 12 110812083 110812083 single base substitution C T missense_variant E105K 313G>A BRCA-UK 12 110812083 110812083 single base substitution C T missense_variant E556K 1666G>A BRCA-UK 12 110830833 110830833 single base substitution C G intron_variant BRCA-US 12 110813984 110813984 single base substitution C T downstream_gene_variant BRCA-US 12 110813984 110813984 single base substitution C T exon_variant BRCA-US 12 110813984 110813984 single base substitution C T synonymous_variant L48L 144G>A BRCA-US 12 110813984 110813984 single base substitution C T synonymous_variant L499L 1497G>A BRCA-US 12 110815309 110815309 single base substitution C T downstream_gene_variant BRCA-US 12 110815309 110815309 single base substitution C T exon_variant BRCA-US 12 110815309 110815309 single base substitution C T intron_variant BRCA-US 12 110815309 110815309 single base substitution C T missense_variant V450I 1348G>A BRCA-US 12 110815414 110815414 single base substitution C T exon_variant BRCA-US 12 110815414 110815414 single base substitution C T intron_variant BRCA-US 12 110815414 110815414 single base substitution C T missense_variant E415K 1243G>A BRCA-US 12 110819687 110819687 single base substitution C T downstream_gene_variant BRCA-US 12 110819687 110819687 single base substitution C T exon_variant BRCA-US 12 110819687 110819687 single base substitution C T synonymous_variant L368L 1104G>A BRCA-US 12 110819687 110819687 single base substitution C T upstream_gene_variant BRCA-US 12 110832986 110832986 single base substitution C T 3_prime_UTR_variant BRCA-US 12 110832986 110832986 single base substitution C T exon_variant BRCA-US 12 110832986 110832986 single base substitution C T missense_variant E144K 430G>A BRCA-US 12 110834204 110834204 single base substitution G A exon_variant BRCA-US 12 110834204 110834204 single base substitution G A intron_variant BRCA-US 12 110834204 110834204 single base substitution G A missense_variant S86F 257C>T BTCA-JP 12 110814060 110814060 insertion of <=200bp - A downstream_gene_variant BTCA-JP 12 110814060 110814060 insertion of <=200bp - A intron_variant BTCA-JP 12 110826451 110826451 single base substitution T C intron_variant BTCA-JP 12 110826451 110826451 single base substitution T C upstream_gene_variant CESC-US 12 110819749 110819749 single base substitution G C downstream_gene_variant CESC-US 12 110819749 110819749 single base substitution G C exon_variant CESC-US 12 110819749 110819749 single base substitution G C missense_variant H348D 1042C>G CESC-US 12 110819749 110819749 single base substitution G C upstream_gene_variant CLLE-ES 12 110819762 110819762 single base substitution A G downstream_gene_variant CLLE-ES 12 110819762 110819762 single base substitution A G intron_variant CLLE-ES 12 110819762 110819762 single base substitution A G upstream_gene_variant CLLE-ES 12 110826896 110826896 single base substitution A G intron_variant CLLE-ES 12 110826896 110826896 single base substitution A G upstream_gene_variant CLLE-ES 12 110838227 110838227 single base substitution C T intron_variant CLLE-ES 12 110838227 110838227 single base substitution C T upstream_gene_variant COAD-US 12 110819602 110819602 single base substitution G A downstream_gene_variant COAD-US 12 110819602 110819602 single base substitution G A exon_variant COAD-US 12 110819602 110819602 single base substitution G A missense_variant R21W 61C>T COAD-US 12 110819602 110819602 single base substitution G A missense_variant R397W 1189C>T COAD-US 12 110819602 110819602 single base substitution G A upstream_gene_variant COAD-US 12 110826370 110826370 single base substitution G A 3_prime_UTR_variant COAD-US 12 110826370 110826370 single base substitution G A exon_variant COAD-US 12 110826370 110826370 single base substitution G A intron_variant COAD-US 12 110826370 110826370 single base substitution G A missense_variant T190I 569C>T COAD-US 12 110826370 110826370 single base substitution G A upstream_gene_variant COAD-US 12 110832966 110832966 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 12 110832966 110832966 deletion of <=200bp T - exon_variant COAD-US 12 110832966 110832966 deletion of <=200bp T - frameshift_variant K150 COAD-US 12 110834116 110834116 deletion of <=200bp T - exon_variant COAD-US 12 110834116 110834116 deletion of <=200bp T - frameshift_variant K115 COAD-US 12 110834116 110834116 deletion of <=200bp T - intron_variant COCA-CN 12 110818442 110818442 single base substitution C T intron_variant COCA-CN 12 110818442 110818442 single base substitution C T upstream_gene_variant COCA-CN 12 110825172 110825172 single base substitution C G downstream_gene_variant COCA-CN 12 110825172 110825172 single base substitution C G intron_variant COCA-CN 12 110825172 110825172 single base substitution C G upstream_gene_variant COCA-CN 12 110826306 110826306 single base substitution A C intron_variant COCA-CN 12 110826306 110826306 single base substitution A C upstream_gene_variant ESAD-UK 12 110809997 110809997 single base substitution G A downstream_gene_variant ESAD-UK 12 110810620 110810620 single base substitution G A downstream_gene_variant ESAD-UK 12 110813023 110813023 single base substitution G A downstream_gene_variant ESAD-UK 12 110813023 110813023 single base substitution G A intron_variant ESAD-UK 12 110814068 110814068 single base substitution C T downstream_gene_variant ESAD-UK 12 110814068 110814068 single base substitution C T intron_variant ESAD-UK 12 110818729 110818729 single base substitution C T intron_variant ESAD-UK 12 110818729 110818729 single base substitution C T upstream_gene_variant ESAD-UK 12 110819137 110819137 insertion of <=200bp - TTG downstream_gene_variant ESAD-UK 12 110819137 110819137 insertion of <=200bp - TTG intron_variant ESAD-UK 12 110819137 110819137 insertion of <=200bp - TTG upstream_gene_variant ESAD-UK 12 110820890 110820890 single base substitution T G downstream_gene_variant ESAD-UK 12 110820890 110820890 single base substitution T G exon_variant ESAD-UK 12 110820890 110820890 single base substitution T G intron_variant ESAD-UK 12 110820890 110820890 single base substitution T G upstream_gene_variant ESAD-UK 12 110821045 110821045 single base substitution C T downstream_gene_variant ESAD-UK 12 110821045 110821045 single base substitution C T exon_variant ESAD-UK 12 110821045 110821045 single base substitution C T intron_variant ESAD-UK 12 110821045 110821045 single base substitution C T upstream_gene_variant ESAD-UK 12 110821114 110821114 single base substitution G A downstream_gene_variant ESAD-UK 12 110821114 110821114 single base substitution G A intron_variant ESAD-UK 12 110821114 110821114 single base substitution G A upstream_gene_variant ESAD-UK 12 110822150 110822151 deletion of <=200bp TA - downstream_gene_variant ESAD-UK 12 110822150 110822151 deletion of <=200bp TA - intron_variant ESAD-UK 12 110822150 110822151 deletion of <=200bp TA - upstream_gene_variant ESAD-UK 12 110823111 110823111 single base substitution C T downstream_gene_variant ESAD-UK 12 110823111 110823111 single base substitution C T intron_variant ESAD-UK 12 110823111 110823111 single base substitution C T upstream_gene_variant ESAD-UK 12 110824828 110824828 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 110824828 110824828 deletion of <=200bp A - exon_variant ESAD-UK 12 110824828 110824828 deletion of <=200bp A - intron_variant ESAD-UK 12 110824828 110824828 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 110825269 110825269 single base substitution G T downstream_gene_variant ESAD-UK 12 110825269 110825269 single base substitution G T intron_variant ESAD-UK 12 110825269 110825269 single base substitution G T upstream_gene_variant ESAD-UK 12 110827754 110827754 single base substitution A C intron_variant ESAD-UK 12 110827754 110827754 single base substitution A C upstream_gene_variant ESAD-UK 12 110830590 110830590 deletion of <=200bp T - intron_variant ESAD-UK 12 110832200 110832200 single base substitution G C intron_variant ESAD-UK 12 110840981 110840981 single base substitution C A intron_variant ESAD-UK 12 110841910 110841910 single base substitution A C upstream_gene_variant ESAD-UK 12 110842677 110842677 single base substitution C A upstream_gene_variant ESAD-UK 12 110846504 110846504 single base substitution C A upstream_gene_variant GBM-US 12 110825638 110825638 single base substitution G A 3_prime_UTR_variant GBM-US 12 110825638 110825638 single base substitution G A exon_variant GBM-US 12 110825638 110825638 single base substitution G A stop_gained Q228* 682C>T GBM-US 12 110825638 110825638 single base substitution G A upstream_gene_variant KIRC-US 12 110815266 110815266 single base substitution A T downstream_gene_variant KIRC-US 12 110815266 110815266 single base substitution A T exon_variant KIRC-US 12 110815266 110815266 single base substitution A T intron_variant KIRC-US 12 110815266 110815266 single base substitution A T stop_gained L464* 1391T>A KIRC-US 12 110820691 110820691 single base substitution A T downstream_gene_variant KIRC-US 12 110820691 110820691 single base substitution A T exon_variant KIRC-US 12 110820691 110820691 single base substitution A T missense_variant F332I 994T>A KIRC-US 12 110820691 110820691 single base substitution A T upstream_gene_variant KIRC-US 12 110825591 110825591 single base substitution A G 3_prime_UTR_variant KIRC-US 12 110825591 110825591 single base substitution A G exon_variant KIRC-US 12 110825591 110825591 single base substitution A G synonymous_variant Y243Y 729T>C KIRC-US 12 110825591 110825591 single base substitution A G upstream_gene_variant KIRP-US 12 110813921 110813921 single base substitution T C downstream_gene_variant KIRP-US 12 110813921 110813921 single base substitution T C exon_variant KIRP-US 12 110813921 110813921 single base substitution T C synonymous_variant V520V 1560A>G KIRP-US 12 110813921 110813921 single base substitution T C synonymous_variant V69V 207A>G LAML-KR 12 110805948 110805948 single base substitution G C downstream_gene_variant LAML-KR 12 110807271 110807271 single base substitution G T downstream_gene_variant LAML-KR 12 110818142 110818142 single base substitution T C intron_variant LAML-KR 12 110818142 110818142 single base substitution T C upstream_gene_variant LAML-KR 12 110821835 110821835 single base substitution G A downstream_gene_variant LAML-KR 12 110821835 110821835 single base substitution G A intron_variant LAML-KR 12 110821835 110821835 single base substitution G A upstream_gene_variant LAML-KR 12 110831626 110831626 single base substitution T C intron_variant LGG-US 12 110824234 110824234 single base substitution G C 3_prime_UTR_variant LGG-US 12 110824234 110824234 single base substitution G C downstream_gene_variant LGG-US 12 110824234 110824234 single base substitution G C exon_variant LGG-US 12 110824234 110824234 single base substitution G C missense_variant L273V 817C>G LGG-US 12 110824234 110824234 single base substitution G C upstream_gene_variant LICA-FR 12 110819730 110819730 single base substitution C T downstream_gene_variant LICA-FR 12 110819730 110819730 single base substitution C T exon_variant LICA-FR 12 110819730 110819730 single base substitution C T missense_variant R354H 1061G>A LICA-FR 12 110819730 110819730 single base substitution C T upstream_gene_variant LICA-FR 12 110825047 110825047 single base substitution A C downstream_gene_variant LICA-FR 12 110825047 110825047 single base substitution A C exon_variant LICA-FR 12 110825047 110825047 single base substitution A C intron_variant LICA-FR 12 110825047 110825047 single base substitution A C upstream_gene_variant LICA-FR 12 110825106 110825106 single base substitution G C downstream_gene_variant LICA-FR 12 110825106 110825106 single base substitution G C intron_variant LICA-FR 12 110825106 110825106 single base substitution G C upstream_gene_variant LIHC-US 12 110819712 110819712 single base substitution T C downstream_gene_variant LIHC-US 12 110819712 110819712 single base substitution T C exon_variant LIHC-US 12 110819712 110819712 single base substitution T C missense_variant Y360C 1079A>G LIHC-US 12 110819712 110819712 single base substitution T C upstream_gene_variant LINC-JP 12 110811232 110811232 single base substitution T C 3_prime_UTR_variant LINC-JP 12 110811232 110811232 single base substitution T C downstream_gene_variant LINC-JP 12 110818864 110818865 deletion of <=200bp AA - intron_variant LINC-JP 12 110818864 110818865 deletion of <=200bp AA - upstream_gene_variant LINC-JP 12 110824126 110824126 single base substitution A G downstream_gene_variant LINC-JP 12 110824126 110824126 single base substitution A G intron_variant LINC-JP 12 110824126 110824126 single base substitution A G splice_region_variant LINC-JP 12 110824126 110824126 single base substitution A G upstream_gene_variant LINC-JP 12 110826444 110826444 single base substitution T C intron_variant LINC-JP 12 110826444 110826444 single base substitution T C upstream_gene_variant LINC-JP 12 110833812 110833812 single base substitution T C intron_variant LINC-JP 12 110834362 110834362 single base substitution C A intron_variant LINC-JP 12 110834362 110834362 single base substitution C A upstream_gene_variant LINC-JP 12 110834757 110834757 single base substitution C A intron_variant LINC-JP 12 110834757 110834757 single base substitution C A upstream_gene_variant LIRI-JP 12 110809104 110809104 single base substitution G C downstream_gene_variant LIRI-JP 12 110809240 110809240 single base substitution G T downstream_gene_variant LIRI-JP 12 110809702 110809703 deletion of <=200bp GA - downstream_gene_variant LIRI-JP 12 110810722 110810722 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 12 110810722 110810722 insertion of <=200bp - A downstream_gene_variant LIRI-JP 12 110811640 110811640 single base substitution T G 3_prime_UTR_variant LIRI-JP 12 110811640 110811640 single base substitution T G downstream_gene_variant LIRI-JP 12 110811640 110811640 single base substitution T G exon_variant LIRI-JP 12 110811647 110811647 single base substitution T G 3_prime_UTR_variant LIRI-JP 12 110811647 110811647 single base substitution T G downstream_gene_variant LIRI-JP 12 110811647 110811647 single base substitution T G exon_variant LIRI-JP 12 110812035 110812035 single base substitution C T downstream_gene_variant LIRI-JP 12 110812035 110812035 single base substitution C T exon_variant LIRI-JP 12 110812035 110812035 single base substitution C T missense_variant G121R 361G>A LIRI-JP 12 110812035 110812035 single base substitution C T missense_variant G572R 1714G>A LIRI-JP 12 110816495 110816495 single base substitution T C exon_variant LIRI-JP 12 110816495 110816495 single base substitution T C intron_variant LIRI-JP 12 110816495 110816495 single base substitution T C upstream_gene_variant LIRI-JP 12 110816655 110816655 single base substitution A C exon_variant LIRI-JP 12 110816655 110816655 single base substitution A C intron_variant LIRI-JP 12 110816655 110816655 single base substitution A C upstream_gene_variant LIRI-JP 12 110816754 110816754 single base substitution C T exon_variant LIRI-JP 12 110816754 110816754 single base substitution C T intron_variant LIRI-JP 12 110816754 110816754 single base substitution C T upstream_gene_variant LIRI-JP 12 110817179 110817179 single base substitution C T intron_variant LIRI-JP 12 110817179 110817179 single base substitution C T upstream_gene_variant LIRI-JP 12 110819016 110819016 single base substitution C T intron_variant LIRI-JP 12 110819016 110819016 single base substitution C T upstream_gene_variant LIRI-JP 12 110819409 110819409 single base substitution A G downstream_gene_variant LIRI-JP 12 110819409 110819409 single base substitution A G intron_variant LIRI-JP 12 110819409 110819409 single base substitution A G upstream_gene_variant LIRI-JP 12 110825404 110825404 single base substitution T C downstream_gene_variant LIRI-JP 12 110825404 110825404 single base substitution T C intron_variant LIRI-JP 12 110825404 110825404 single base substitution T C upstream_gene_variant LIRI-JP 12 110827856 110827856 single base substitution A T intron_variant LIRI-JP 12 110827856 110827856 single base substitution A T upstream_gene_variant LIRI-JP 12 110828871 110828871 single base substitution T A intron_variant LIRI-JP 12 110828871 110828871 single base substitution T A upstream_gene_variant LIRI-JP 12 110828987 110828987 single base substitution T A intron_variant LIRI-JP 12 110828987 110828987 single base substitution T A upstream_gene_variant LIRI-JP 12 110832944 110832944 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 110832944 110832944 single base substitution T C exon_variant LIRI-JP 12 110832944 110832944 single base substitution T C missense_variant I158V 472A>G LIRI-JP 12 110840516 110840516 single base substitution C T intron_variant LIRI-JP 12 110841255 110841255 single base substitution C T intron_variant LIRI-JP 12 110842338 110842338 single base substitution A C upstream_gene_variant LIRI-JP 12 110843309 110843309 single base substitution C A upstream_gene_variant LIRI-JP 12 110845062 110845062 single base substitution A G upstream_gene_variant LUSC-KR 12 110809695 110809695 single base substitution T A downstream_gene_variant LUSC-KR 12 110809873 110809873 single base substitution T C downstream_gene_variant LUSC-KR 12 110814490 110814490 single base substitution G C downstream_gene_variant LUSC-KR 12 110814490 110814490 single base substitution G C intron_variant LUSC-KR 12 110827231 110827231 single base substitution G C intron_variant LUSC-KR 12 110827231 110827231 single base substitution G C upstream_gene_variant LUSC-KR 12 110829179 110829179 single base substitution C T intron_variant LUSC-KR 12 110829179 110829179 single base substitution C T upstream_gene_variant LUSC-KR 12 110830602 110830602 single base substitution T C intron_variant LUSC-KR 12 110837593 110837593 single base substitution C T intron_variant LUSC-KR 12 110837593 110837593 single base substitution C T upstream_gene_variant LUSC-KR 12 110840433 110840433 single base substitution C A intron_variant LUSC-KR 12 110844081 110844081 single base substitution C T upstream_gene_variant LUSC-KR 12 110845273 110845273 single base substitution C T upstream_gene_variant LUSC-US 12 110834113 110834113 single base substitution C A exon_variant LUSC-US 12 110834113 110834113 single base substitution C A intron_variant LUSC-US 12 110834113 110834113 single base substitution C A synonymous_variant V116V 348G>T MALY-DE 12 110818166 110818166 insertion of <=200bp - A intron_variant MALY-DE 12 110818166 110818166 insertion of <=200bp - A upstream_gene_variant MALY-DE 12 110819139 110819139 single base substitution G T downstream_gene_variant MALY-DE 12 110819139 110819139 single base substitution G T intron_variant MALY-DE 12 110819139 110819139 single base substitution G T upstream_gene_variant MALY-DE 12 110821416 110821416 single base substitution A G downstream_gene_variant MALY-DE 12 110821416 110821416 single base substitution A G intron_variant MALY-DE 12 110821416 110821416 single base substitution A G upstream_gene_variant MALY-DE 12 110821424 110821424 single base substitution A C downstream_gene_variant MALY-DE 12 110821424 110821424 single base substitution A C intron_variant MALY-DE 12 110821424 110821424 single base substitution A C upstream_gene_variant MALY-DE 12 110821434 110821434 single base substitution A C downstream_gene_variant MALY-DE 12 110821434 110821434 single base substitution A C intron_variant MALY-DE 12 110821434 110821434 single base substitution A C upstream_gene_variant MALY-DE 12 110825448 110825448 single base substitution A T exon_variant MALY-DE 12 110825448 110825448 single base substitution A T intron_variant MALY-DE 12 110825448 110825448 single base substitution A T upstream_gene_variant MALY-DE 12 110834374 110834374 single base substitution G A intron_variant MALY-DE 12 110834374 110834374 single base substitution G A upstream_gene_variant MALY-DE 12 110841268 110841268 single base substitution G A intron_variant MELA-AU 12 110807135 110807135 single base substitution G A downstream_gene_variant MELA-AU 12 110807778 110807778 single base substitution C T downstream_gene_variant MELA-AU 12 110807989 110807989 single base substitution A T downstream_gene_variant MELA-AU 12 110808725 110808725 single base substitution G A downstream_gene_variant MELA-AU 12 110808743 110808743 single base substitution T C downstream_gene_variant MELA-AU 12 110809016 110809016 single base substitution G A downstream_gene_variant MELA-AU 12 110809420 110809420 single base substitution G A downstream_gene_variant MELA-AU 12 110809442 110809442 single base substitution G A downstream_gene_variant MELA-AU 12 110809611 110809611 single base substitution G A downstream_gene_variant MELA-AU 12 110810026 110810026 single base substitution G A downstream_gene_variant MELA-AU 12 110810792 110810792 single base substitution G A 3_prime_UTR_variant MELA-AU 12 110810792 110810792 single base substitution G A downstream_gene_variant MELA-AU 12 110810875 110810875 single base substitution C T 3_prime_UTR_variant MELA-AU 12 110810875 110810875 single base substitution C T downstream_gene_variant MELA-AU 12 110811637 110811637 single base substitution G A 3_prime_UTR_variant MELA-AU 12 110811637 110811637 single base substitution G A downstream_gene_variant MELA-AU 12 110811637 110811637 single base substitution G A exon_variant MELA-AU 12 110812038 110812038 single base substitution C T downstream_gene_variant MELA-AU 12 110812038 110812038 single base substitution C T exon_variant MELA-AU 12 110812038 110812038 single base substitution C T missense_variant E120K 358G>A MELA-AU 12 110812038 110812038 single base substitution C T missense_variant E571K 1711G>A MELA-AU 12 110812327 110812327 single base substitution G A downstream_gene_variant MELA-AU 12 110812327 110812327 single base substitution G A intron_variant MELA-AU 12 110812380 110812380 single base substitution C T downstream_gene_variant MELA-AU 12 110812380 110812380 single base substitution C T intron_variant MELA-AU 12 110814547 110814547 single base substitution A T downstream_gene_variant MELA-AU 12 110814547 110814547 single base substitution A T intron_variant MELA-AU 12 110814657 110814657 single base substitution G A downstream_gene_variant MELA-AU 12 110814657 110814657 single base substitution G A intron_variant MELA-AU 12 110814790 110814790 single base substitution A T downstream_gene_variant MELA-AU 12 110814790 110814790 single base substitution A T intron_variant MELA-AU 12 110815322 110815322 single base substitution G A downstream_gene_variant MELA-AU 12 110815322 110815322 single base substitution G A exon_variant MELA-AU 12 110815322 110815322 single base substitution G A intron_variant MELA-AU 12 110815322 110815322 single base substitution G A synonymous_variant T445T 1335C>T MELA-AU 12 110815542 110815542 single base substitution G A exon_variant MELA-AU 12 110815542 110815542 single base substitution G A intron_variant MELA-AU 12 110815697 110815697 single base substitution T G exon_variant MELA-AU 12 110815697 110815697 single base substitution T G intron_variant MELA-AU 12 110815889 110815889 single base substitution G A exon_variant MELA-AU 12 110815889 110815889 single base substitution G A intron_variant MELA-AU 12 110815889 110815889 single base substitution G A upstream_gene_variant MELA-AU 12 110816936 110816937 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 12 110816936 110816937 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 110816936 110816937 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 110818439 110818439 single base substitution G A intron_variant MELA-AU 12 110818439 110818439 single base substitution G A upstream_gene_variant MELA-AU 12 110818542 110818542 single base substitution G A intron_variant MELA-AU 12 110818542 110818542 single base substitution G A upstream_gene_variant MELA-AU 12 110818668 110818668 single base substitution G A intron_variant MELA-AU 12 110818668 110818668 single base substitution G A upstream_gene_variant MELA-AU 12 110819092 110819092 single base substitution G A intron_variant MELA-AU 12 110819092 110819092 single base substitution G A upstream_gene_variant MELA-AU 12 110819846 110819846 single base substitution G A downstream_gene_variant MELA-AU 12 110819846 110819846 single base substitution G A intron_variant MELA-AU 12 110819846 110819846 single base substitution G A upstream_gene_variant MELA-AU 12 110821293 110821293 single base substitution T C downstream_gene_variant MELA-AU 12 110821293 110821293 single base substitution T C intron_variant MELA-AU 12 110821293 110821293 single base substitution T C upstream_gene_variant MELA-AU 12 110822270 110822270 single base substitution G A downstream_gene_variant MELA-AU 12 110822270 110822270 single base substitution G A intron_variant MELA-AU 12 110822270 110822270 single base substitution G A upstream_gene_variant MELA-AU 12 110823143 110823143 single base substitution G A downstream_gene_variant MELA-AU 12 110823143 110823143 single base substitution G A intron_variant MELA-AU 12 110823143 110823143 single base substitution G A upstream_gene_variant MELA-AU 12 110823434 110823434 single base substitution T A downstream_gene_variant MELA-AU 12 110823434 110823434 single base substitution T A intron_variant MELA-AU 12 110823434 110823434 single base substitution T A upstream_gene_variant MELA-AU 12 110823886 110823886 single base substitution G A downstream_gene_variant MELA-AU 12 110823886 110823886 single base substitution G A intron_variant MELA-AU 12 110823886 110823886 single base substitution G A upstream_gene_variant MELA-AU 12 110824327 110824327 single base substitution A G downstream_gene_variant MELA-AU 12 110824327 110824327 single base substitution A G exon_variant MELA-AU 12 110824327 110824327 single base substitution A G intron_variant MELA-AU 12 110824327 110824327 single base substitution A G upstream_gene_variant MELA-AU 12 110825166 110825166 single base substitution G A downstream_gene_variant MELA-AU 12 110825166 110825166 single base substitution G A intron_variant MELA-AU 12 110825166 110825166 single base substitution G A upstream_gene_variant MELA-AU 12 110825815 110825815 single base substitution G A intron_variant MELA-AU 12 110825815 110825815 single base substitution G A upstream_gene_variant MELA-AU 12 110825866 110825866 single base substitution T C intron_variant MELA-AU 12 110825866 110825866 single base substitution T C upstream_gene_variant MELA-AU 12 110826304 110826304 single base substitution G A intron_variant MELA-AU 12 110826304 110826304 single base substitution G A upstream_gene_variant MELA-AU 12 110827460 110827460 single base substitution G A intron_variant MELA-AU 12 110827460 110827460 single base substitution G A upstream_gene_variant MELA-AU 12 110828477 110828477 single base substitution G A intron_variant MELA-AU 12 110828477 110828477 single base substitution G A upstream_gene_variant MELA-AU 12 110829182 110829182 single base substitution G A intron_variant MELA-AU 12 110829182 110829182 single base substitution G A upstream_gene_variant MELA-AU 12 110829718 110829718 single base substitution G A intron_variant MELA-AU 12 110829718 110829718 single base substitution G A upstream_gene_variant MELA-AU 12 110830891 110830891 single base substitution T A intron_variant MELA-AU 12 110831302 110831302 single base substitution G A intron_variant MELA-AU 12 110831564 110831564 single base substitution T C intron_variant MELA-AU 12 110831660 110831660 single base substitution G A intron_variant MELA-AU 12 110831683 110831683 single base substitution A T intron_variant MELA-AU 12 110831795 110831795 single base substitution G A intron_variant MELA-AU 12 110831902 110831902 single base substitution A G intron_variant MELA-AU 12 110832105 110832105 single base substitution G A intron_variant MELA-AU 12 110832360 110832360 single base substitution G A intron_variant MELA-AU 12 110832635 110832635 single base substitution T G intron_variant MELA-AU 12 110832848 110832848 single base substitution G A intron_variant MELA-AU 12 110833595 110833595 single base substitution G A intron_variant MELA-AU 12 110833713 110833713 single base substitution G A intron_variant MELA-AU 12 110834181 110834181 single base substitution G A exon_variant MELA-AU 12 110834181 110834181 single base substitution G A intron_variant MELA-AU 12 110834181 110834181 single base substitution G A missense_variant R94W 280C>T MELA-AU 12 110834364 110834364 single base substitution G A intron_variant MELA-AU 12 110834364 110834364 single base substitution G A upstream_gene_variant MELA-AU 12 110834805 110834805 single base substitution G A intron_variant MELA-AU 12 110834805 110834805 single base substitution G A upstream_gene_variant MELA-AU 12 110835043 110835043 single base substitution G A intron_variant MELA-AU 12 110835043 110835043 single base substitution G A upstream_gene_variant MELA-AU 12 110835105 110835105 single base substitution A G intron_variant MELA-AU 12 110835105 110835105 single base substitution A G upstream_gene_variant MELA-AU 12 110835419 110835419 single base substitution G A intron_variant MELA-AU 12 110835419 110835419 single base substitution G A upstream_gene_variant MELA-AU 12 110835420 110835420 single base substitution G A intron_variant MELA-AU 12 110835420 110835420 single base substitution G A upstream_gene_variant MELA-AU 12 110835518 110835518 single base substitution C A intron_variant MELA-AU 12 110835518 110835518 single base substitution C A upstream_gene_variant MELA-AU 12 110835711 110835712 multiple base substitution (>=2bp and <=200bp) AA GC intron_variant MELA-AU 12 110835711 110835712 multiple base substitution (>=2bp and <=200bp) AA GC upstream_gene_variant MELA-AU 12 110836647 110836648 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 110836647 110836648 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 110836648 110836648 single base substitution G A intron_variant MELA-AU 12 110836648 110836648 single base substitution G A upstream_gene_variant MELA-AU 12 110836701 110836701 single base substitution G A intron_variant MELA-AU 12 110836701 110836701 single base substitution G A upstream_gene_variant MELA-AU 12 110837309 110837309 single base substitution G A intron_variant MELA-AU 12 110837309 110837309 single base substitution G A upstream_gene_variant MELA-AU 12 110838105 110838105 single base substitution G A intron_variant MELA-AU 12 110838105 110838105 single base substitution G A upstream_gene_variant MELA-AU 12 110838134 110838134 single base substitution G A intron_variant MELA-AU 12 110838134 110838134 single base substitution G A upstream_gene_variant MELA-AU 12 110838430 110838430 single base substitution C T intron_variant MELA-AU 12 110838430 110838430 single base substitution C T upstream_gene_variant MELA-AU 12 110838832 110838832 single base substitution G A intron_variant MELA-AU 12 110838832 110838832 single base substitution G A upstream_gene_variant MELA-AU 12 110838834 110838834 single base substitution A T intron_variant MELA-AU 12 110838834 110838834 single base substitution A T upstream_gene_variant MELA-AU 12 110839316 110839316 single base substitution G A intron_variant MELA-AU 12 110839462 110839462 single base substitution G A intron_variant MELA-AU 12 110839464 110839464 single base substitution G A intron_variant MELA-AU 12 110839600 110839600 single base substitution A C intron_variant MELA-AU 12 110839672 110839672 single base substitution G T intron_variant MELA-AU 12 110839702 110839703 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 110840862 110840862 single base substitution T C intron_variant MELA-AU 12 110841587 110841587 single base substitution G A upstream_gene_variant MELA-AU 12 110841811 110841811 single base substitution A T upstream_gene_variant MELA-AU 12 110841841 110841841 single base substitution C A upstream_gene_variant MELA-AU 12 110841871 110841871 single base substitution G A upstream_gene_variant MELA-AU 12 110842031 110842031 single base substitution C T upstream_gene_variant MELA-AU 12 110842396 110842396 single base substitution G A upstream_gene_variant MELA-AU 12 110842550 110842550 single base substitution C T upstream_gene_variant MELA-AU 12 110842647 110842647 single base substitution C T upstream_gene_variant MELA-AU 12 110843268 110843268 single base substitution C T upstream_gene_variant MELA-AU 12 110843301 110843301 single base substitution G A upstream_gene_variant MELA-AU 12 110843436 110843436 single base substitution G A upstream_gene_variant MELA-AU 12 110843763 110843763 single base substitution C T upstream_gene_variant MELA-AU 12 110843918 110843918 single base substitution C T upstream_gene_variant MELA-AU 12 110843928 110843929 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 110843929 110843929 single base substitution G A upstream_gene_variant MELA-AU 12 110843932 110843932 single base substitution G A upstream_gene_variant MELA-AU 12 110843937 110843937 single base substitution G A upstream_gene_variant MELA-AU 12 110844161 110844161 single base substitution T G upstream_gene_variant MELA-AU 12 110844213 110844213 single base substitution G A upstream_gene_variant MELA-AU 12 110844338 110844338 single base substitution G A upstream_gene_variant MELA-AU 12 110844340 110844340 single base substitution G A upstream_gene_variant MELA-AU 12 110844644 110844644 single base substitution G A upstream_gene_variant MELA-AU 12 110844690 110844690 single base substitution C T upstream_gene_variant MELA-AU 12 110844840 110844840 single base substitution G A upstream_gene_variant MELA-AU 12 110845162 110845162 single base substitution G A upstream_gene_variant MELA-AU 12 110845875 110845875 single base substitution G A upstream_gene_variant MELA-AU 12 110845992 110845992 single base substitution G A upstream_gene_variant MELA-AU 12 110846071 110846071 single base substitution G A upstream_gene_variant MELA-AU 12 110846229 110846229 single base substitution C T upstream_gene_variant MELA-AU 12 110846430 110846430 single base substitution C T upstream_gene_variant MELA-AU 12 110846432 110846432 single base substitution A G upstream_gene_variant ORCA-IN 12 110807656 110807656 single base substitution G A downstream_gene_variant ORCA-IN 12 110808802 110808802 single base substitution G A downstream_gene_variant ORCA-IN 12 110819365 110819365 single base substitution C G downstream_gene_variant ORCA-IN 12 110819365 110819365 single base substitution C G intron_variant ORCA-IN 12 110819365 110819365 single base substitution C G upstream_gene_variant ORCA-IN 12 110829897 110829897 deletion of <=200bp C - intron_variant ORCA-IN 12 110829897 110829897 deletion of <=200bp C - upstream_gene_variant OV-AU 12 110807689 110807689 single base substitution T A downstream_gene_variant OV-AU 12 110821172 110821172 single base substitution G C downstream_gene_variant OV-AU 12 110821172 110821172 single base substitution G C intron_variant OV-AU 12 110821172 110821172 single base substitution G C upstream_gene_variant OV-AU 12 110824879 110824879 single base substitution T A downstream_gene_variant OV-AU 12 110824879 110824879 single base substitution T A exon_variant OV-AU 12 110824879 110824879 single base substitution T A intron_variant OV-AU 12 110824879 110824879 single base substitution T A upstream_gene_variant OV-AU 12 110826901 110826901 single base substitution A G intron_variant OV-AU 12 110826901 110826901 single base substitution A G upstream_gene_variant OV-AU 12 110828131 110828131 single base substitution G A intron_variant OV-AU 12 110828131 110828131 single base substitution G A upstream_gene_variant OV-AU 12 110841908 110841908 single base substitution C G upstream_gene_variant OV-AU 12 110844324 110844324 single base substitution G A upstream_gene_variant OV-AU 12 110846025 110846025 single base substitution A G upstream_gene_variant PACA-AU 12 110807006 110807006 single base substitution G A downstream_gene_variant PACA-AU 12 110814742 110814742 single base substitution A G downstream_gene_variant PACA-AU 12 110814742 110814742 single base substitution A G intron_variant PACA-AU 12 110818742 110818742 single base substitution C A intron_variant PACA-AU 12 110818742 110818742 single base substitution C A upstream_gene_variant PACA-AU 12 110825429 110825429 single base substitution T C downstream_gene_variant PACA-AU 12 110825429 110825429 single base substitution T C intron_variant PACA-AU 12 110825429 110825429 single base substitution T C upstream_gene_variant PACA-AU 12 110832681 110832681 single base substitution T G intron_variant PACA-AU 12 110841038 110841038 single base substitution C G intron_variant PACA-AU 12 110841517 110841517 single base substitution G C synonymous_variant A6A 18C>G PACA-AU 12 110841517 110841517 single base substitution G C upstream_gene_variant PACA-AU 12 110842639 110842639 single base substitution C A upstream_gene_variant PACA-AU 12 110843504 110843504 single base substitution A C upstream_gene_variant PACA-CA 12 110814583 110814583 single base substitution T C downstream_gene_variant PACA-CA 12 110814583 110814583 single base substitution T C intron_variant PACA-CA 12 110819139 110819139 single base substitution G T downstream_gene_variant PACA-CA 12 110819139 110819139 single base substitution G T intron_variant PACA-CA 12 110819139 110819139 single base substitution G T upstream_gene_variant PACA-CA 12 110819142 110819142 single base substitution G T downstream_gene_variant PACA-CA 12 110819142 110819142 single base substitution G T intron_variant PACA-CA 12 110819142 110819142 single base substitution G T upstream_gene_variant PACA-CA 12 110826811 110826811 single base substitution C T intron_variant PACA-CA 12 110826811 110826811 single base substitution C T upstream_gene_variant PACA-CA 12 110829184 110829184 single base substitution A T intron_variant PACA-CA 12 110829184 110829184 single base substitution A T upstream_gene_variant PACA-CA 12 110838969 110838969 single base substitution A G intron_variant PACA-CA 12 110838969 110838969 single base substitution A G upstream_gene_variant PACA-CA 12 110839936 110839936 single base substitution C T intron_variant PACA-CA 12 110842454 110842454 deletion of <=200bp A - upstream_gene_variant PACA-CA 12 110843205 110843205 single base substitution T C upstream_gene_variant PAEN-AU 12 110822248 110822248 single base substitution G A downstream_gene_variant PAEN-AU 12 110822248 110822248 single base substitution G A intron_variant PAEN-AU 12 110822248 110822248 single base substitution G A upstream_gene_variant PAEN-AU 12 110828707 110828707 single base substitution C T intron_variant PAEN-AU 12 110828707 110828707 single base substitution C T upstream_gene_variant PAEN-IT 12 110817599 110817599 single base substitution G C intron_variant PAEN-IT 12 110817599 110817599 single base substitution G C upstream_gene_variant PAEN-IT 12 110832962 110832962 single base substitution C A 3_prime_UTR_variant PAEN-IT 12 110832962 110832962 single base substitution C A exon_variant PAEN-IT 12 110832962 110832962 single base substitution C A missense_variant D152Y 454G>T PBCA-DE 12 110809283 110809283 single base substitution C T downstream_gene_variant PBCA-DE 12 110811588 110811588 single base substitution G C 3_prime_UTR_variant PBCA-DE 12 110811588 110811588 single base substitution G C downstream_gene_variant PBCA-DE 12 110811588 110811588 single base substitution G C exon_variant PBCA-DE 12 110825020 110825021 deletion of <=200bp GA - downstream_gene_variant PBCA-DE 12 110825020 110825021 deletion of <=200bp GA - exon_variant PBCA-DE 12 110825020 110825021 deletion of <=200bp GA - intron_variant PBCA-DE 12 110825020 110825021 deletion of <=200bp GA - upstream_gene_variant PBCA-DE 12 110831018 110831021 deletion of <=200bp TTTC - intron_variant PBCA-DE 12 110831379 110831379 insertion of <=200bp - A intron_variant PBCA-DE 12 110839506 110839506 single base substitution G A intron_variant PBCA-DE 12 110841600 110841601 deletion of <=200bp CT - upstream_gene_variant PRAD-CA 12 110822871 110822871 single base substitution C G downstream_gene_variant PRAD-CA 12 110822871 110822871 single base substitution C G intron_variant PRAD-CA 12 110822871 110822871 single base substitution C G upstream_gene_variant PRAD-CA 12 110825044 110825044 single base substitution C G downstream_gene_variant PRAD-CA 12 110825044 110825044 single base substitution C G exon_variant PRAD-CA 12 110825044 110825044 single base substitution C G intron_variant PRAD-CA 12 110825044 110825044 single base substitution C G upstream_gene_variant PRAD-UK 12 110809535 110809535 single base substitution T C downstream_gene_variant READ-US 12 110841331 110841331 single base substitution C A splice_donor_variant RECA-EU 12 110811332 110811332 single base substitution G C 3_prime_UTR_variant RECA-EU 12 110811332 110811332 single base substitution G C downstream_gene_variant RECA-EU 12 110811332 110811332 single base substitution G C exon_variant RECA-EU 12 110815041 110815041 single base substitution T C downstream_gene_variant RECA-EU 12 110815041 110815041 single base substitution T C intron_variant RECA-EU 12 110817590 110817590 single base substitution T A intron_variant RECA-EU 12 110817590 110817590 single base substitution T A upstream_gene_variant RECA-EU 12 110822587 110822587 single base substitution C A downstream_gene_variant RECA-EU 12 110822587 110822587 single base substitution C A intron_variant RECA-EU 12 110822587 110822587 single base substitution C A upstream_gene_variant RECA-EU 12 110839516 110839516 single base substitution C T intron_variant SKCA-BR 12 110805768 110805768 single base substitution G A downstream_gene_variant SKCA-BR 12 110818176 110818176 single base substitution G A intron_variant SKCA-BR 12 110818176 110818176 single base substitution G A upstream_gene_variant SKCA-BR 12 110818863 110818863 insertion of <=200bp - CA intron_variant SKCA-BR 12 110818863 110818863 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 110819777 110819777 single base substitution A C downstream_gene_variant SKCA-BR 12 110819777 110819777 single base substitution A C intron_variant SKCA-BR 12 110819777 110819777 single base substitution A C upstream_gene_variant SKCA-BR 12 110820256 110820256 insertion of <=200bp - ATATATATAT downstream_gene_variant SKCA-BR 12 110820256 110820256 insertion of <=200bp - ATATATATAT intron_variant SKCA-BR 12 110820256 110820256 insertion of <=200bp - ATATATATAT upstream_gene_variant SKCA-BR 12 110820260 110820260 insertion of <=200bp - ATATAT downstream_gene_variant SKCA-BR 12 110820260 110820260 insertion of <=200bp - ATATAT intron_variant SKCA-BR 12 110820260 110820260 insertion of <=200bp - ATATAT upstream_gene_variant SKCA-BR 12 110820261 110820286 deletion of <=200bp AAAAAAATATATATATATATATATAT - downstream_gene_variant SKCA-BR 12 110820261 110820286 deletion of <=200bp AAAAAAATATATATATATATATATAT - intron_variant SKCA-BR 12 110820261 110820286 deletion of <=200bp AAAAAAATATATATATATATATATAT - upstream_gene_variant SKCA-BR 12 110820264 110820264 single base substitution A T downstream_gene_variant SKCA-BR 12 110820264 110820264 single base substitution A T intron_variant SKCA-BR 12 110820264 110820264 single base substitution A T upstream_gene_variant SKCA-BR 12 110820265 110820265 single base substitution A T downstream_gene_variant SKCA-BR 12 110820265 110820265 single base substitution A T intron_variant SKCA-BR 12 110820265 110820265 single base substitution A T upstream_gene_variant SKCA-BR 12 110820265 110820268 deletion of <=200bp AAAT - downstream_gene_variant SKCA-BR 12 110820265 110820268 deletion of <=200bp AAAT - intron_variant SKCA-BR 12 110820265 110820268 deletion of <=200bp AAAT - upstream_gene_variant SKCA-BR 12 110820268 110820268 single base substitution T A downstream_gene_variant SKCA-BR 12 110820268 110820268 single base substitution T A intron_variant SKCA-BR 12 110820268 110820268 single base substitution T A upstream_gene_variant SKCA-BR 12 110821709 110821709 single base substitution A G downstream_gene_variant SKCA-BR 12 110821709 110821709 single base substitution A G intron_variant SKCA-BR 12 110821709 110821709 single base substitution A G upstream_gene_variant SKCA-BR 12 110825019 110825019 insertion of <=200bp - GGA downstream_gene_variant SKCA-BR 12 110825019 110825019 insertion of <=200bp - GGA exon_variant SKCA-BR 12 110825019 110825019 insertion of <=200bp - GGA intron_variant SKCA-BR 12 110825019 110825019 insertion of <=200bp - GGA upstream_gene_variant SKCA-BR 12 110825172 110825172 single base substitution C G downstream_gene_variant SKCA-BR 12 110825172 110825172 single base substitution C G intron_variant SKCA-BR 12 110825172 110825172 single base substitution C G upstream_gene_variant SKCA-BR 12 110826463 110826463 single base substitution C T intron_variant SKCA-BR 12 110826463 110826463 single base substitution C T upstream_gene_variant SKCA-BR 12 110827736 110827736 insertion of <=200bp - CA intron_variant SKCA-BR 12 110827736 110827736 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 110829896 110829897 deletion of <=200bp AC - intron_variant SKCA-BR 12 110829896 110829897 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 12 110832462 110832462 single base substitution G A intron_variant SKCA-BR 12 110835378 110835378 single base substitution C A intron_variant SKCA-BR 12 110835378 110835378 single base substitution C A upstream_gene_variant SKCA-BR 12 110841626 110841626 single base substitution C T upstream_gene_variant SKCA-BR 12 110841872 110841872 single base substitution G A upstream_gene_variant SKCA-BR 12 110842363 110842363 single base substitution C T upstream_gene_variant SKCA-BR 12 110844690 110844690 single base substitution C T upstream_gene_variant SKCA-BR 12 110844961 110844961 single base substitution C T upstream_gene_variant SKCA-BR 12 110845585 110845585 single base substitution G A upstream_gene_variant SKCM-US 12 110812041 110812041 single base substitution T A downstream_gene_variant SKCM-US 12 110812041 110812041 single base substitution T A exon_variant SKCM-US 12 110812041 110812041 single base substitution T A missense_variant M119L 355A>T SKCM-US 12 110812041 110812041 single base substitution T A missense_variant M570L 1708A>T SKCM-US 12 110812066 110812066 single base substitution G A downstream_gene_variant SKCM-US 12 110812066 110812066 single base substitution G A exon_variant SKCM-US 12 110812066 110812066 single base substitution G A synonymous_variant A110A 330C>T SKCM-US 12 110812066 110812066 single base substitution G A synonymous_variant A561A 1683C>T SKCM-US 12 110812092 110812092 single base substitution C T downstream_gene_variant SKCM-US 12 110812092 110812092 single base substitution C T exon_variant SKCM-US 12 110812092 110812092 single base substitution C T missense_variant E102K 304G>A SKCM-US 12 110812092 110812092 single base substitution C T missense_variant E553K 1657G>A SKCM-US 12 110815261 110815261 single base substitution C T downstream_gene_variant SKCM-US 12 110815261 110815261 single base substitution C T exon_variant SKCM-US 12 110815261 110815261 single base substitution C T intron_variant SKCM-US 12 110815261 110815261 single base substitution C T missense_variant D466N 1396G>A SKCM-US 12 110819677 110819677 single base substitution T C downstream_gene_variant SKCM-US 12 110819677 110819677 single base substitution T C exon_variant SKCM-US 12 110819677 110819677 single base substitution T C missense_variant S372G 1114A>G SKCM-US 12 110819677 110819677 single base substitution T C upstream_gene_variant SKCM-US 12 110824147 110824147 single base substitution G A downstream_gene_variant SKCM-US 12 110824147 110824147 single base substitution G A exon_variant SKCM-US 12 110824147 110824147 single base substitution G A missense_variant P302S 904C>T SKCM-US 12 110824147 110824147 single base substitution G A upstream_gene_variant STAD-US 12 110812029 110812029 single base substitution C A downstream_gene_variant STAD-US 12 110812029 110812029 single base substitution C A exon_variant STAD-US 12 110812029 110812029 single base substitution C A missense_variant G123W 367G>T STAD-US 12 110812029 110812029 single base substitution C A missense_variant G574W 1720G>T STAD-US 12 110819722 110819722 single base substitution G A downstream_gene_variant STAD-US 12 110819722 110819722 single base substitution G A exon_variant STAD-US 12 110819722 110819722 single base substitution G A missense_variant R357W 1069C>T STAD-US 12 110819722 110819722 single base substitution G A upstream_gene_variant STAD-US 12 110834095 110834095 single base substitution A T exon_variant STAD-US 12 110834095 110834095 single base substitution A T intron_variant STAD-US 12 110834095 110834095 single base substitution A T missense_variant N122K 366T>A STAD-US 12 110834100 110834100 single base substitution C T exon_variant STAD-US 12 110834100 110834100 single base substitution C T intron_variant STAD-US 12 110834100 110834100 single base substitution C T missense_variant G121R 361G>A STAD-US 12 110834127 110834127 single base substitution T C exon_variant STAD-US 12 110834127 110834127 single base substitution T C intron_variant STAD-US 12 110834127 110834127 single base substitution T C missense_variant K112E 334A>G STAD-US 12 110841453 110841453 single base substitution G A exon_variant STAD-US 12 110841453 110841453 single base substitution G A missense_variant P28S 82C>T THCA-US 12 110812081 110812081 single base substitution C T downstream_gene_variant THCA-US 12 110812081 110812081 single base substitution C T exon_variant THCA-US 12 110812081 110812081 single base substitution C T synonymous_variant E105E 315G>A THCA-US 12 110812081 110812081 single base substitution C T synonymous_variant E556E 1668G>A UCEC-US 12 110812081 110812081 single base substitution C T downstream_gene_variant UCEC-US 12 110812081 110812081 single base substitution C T exon_variant UCEC-US 12 110812081 110812081 single base substitution C T synonymous_variant E105E 315G>A UCEC-US 12 110812081 110812081 single base substitution C T synonymous_variant E556E 1668G>A UCEC-US 12 110813874 110813874 single base substitution A G downstream_gene_variant UCEC-US 12 110813874 110813874 single base substitution A G exon_variant UCEC-US 12 110813874 110813874 single base substitution A G missense_variant L536P 1607T>C UCEC-US 12 110813874 110813874 single base substitution A G missense_variant L85P 254T>C UCEC-US 12 110813971 110813971 single base substitution C T downstream_gene_variant UCEC-US 12 110813971 110813971 single base substitution C T exon_variant UCEC-US 12 110813971 110813971 single base substitution C T missense_variant A504T 1510G>A UCEC-US 12 110813971 110813971 single base substitution C T missense_variant A53T 157G>A UCEC-US 12 110819628 110819628 single base substitution C A downstream_gene_variant UCEC-US 12 110819628 110819628 single base substitution C A exon_variant UCEC-US 12 110819628 110819628 single base substitution C A missense_variant R12I 35G>T UCEC-US 12 110819628 110819628 single base substitution C A missense_variant R388I 1163G>T UCEC-US 12 110819628 110819628 single base substitution C A upstream_gene_variant UCEC-US 12 110834074 110834074 single base substitution A C exon_variant UCEC-US 12 110834074 110834074 single base substitution A C intron_variant UCEC-US 12 110834074 110834074 single base substitution A C missense_variant S129R 387T>G UCEC-US 12 110834103 110834103 single base substitution T G exon_variant UCEC-US 12 110834103 110834103 single base substitution T G intron_variant UCEC-US 12 110834103 110834103 single base substitution T G missense_variant T120P 358A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ACINAR29 COSM1732826 c.1561G>T p.E521* Substitution - Nonsense 12:110374281-110374281 - LUAD-NYU739 COSM376250 c.686A>T p.K229I Substitution - Missense 12:110386458-110386458 - CSB1 COSM5027693 c.973G>A p.E325K Substitution - Missense 12:110382907-110382907 - TCGA-DK-A3IK-01 COSM1298908 c.619C>G p.L207V Substitution - Missense 12:110388515-110388515 - TCGA-B5-A11E-01 COSM934957 c.285T>G p.S95R Substitution - Missense 12:110396269-110396269 - S00936 COSM309093 c.455G>A p.R152H Substitution - Missense 12:110388577-110388577 - 2492720 COSM5722037 c.113C>T p.S38F Substitution - Missense 12:110396441-110396441 - CHC879T COSM4806181 c.959G>A p.R320H Substitution - Missense 12:110381925-110381925 - TCGA-D1-A103-01 COSM1586164 c.1510G>A p.A504T Substitution - Missense 12:110376166-110376166 - TCGA-BP-4976-01 COSM4858007 c.1391T>A p.L464* Substitution - Nonsense 12:110377461-110377461 - TCGA-EE-A29M-06 COSM3455965 c.1294G>A p.D432N Substitution - Missense 12:110377456-110377456 - LS411 COSM1947009 c.1434T>G p.A478A Substitution - coding silent 12:110377418-110377418 - SC_9059 COSM5565608 c.887G>A p.R296H Substitution - Missense 12:110382891-110382891 - HCA7 COSM4629877 c.713T>G p.V238G Substitution - Missense 12:110387802-110387802 - TCGA-C8-A1HM-01 COSM430314 c.1141G>A p.E381K Substitution - Missense 12:110377609-110377609 - T263 COSM4661500 c.1245C>T p.T415T Substitution - coding silent 12:110377505-110377505 - LS411 COSM1947010 c.1332T>G p.A444A Substitution - coding silent 12:110377418-110377418 - TCGA-A8-A06Q-01 COSM4814953 c.1104G>A p.L368L Substitution - coding silent 12:110381882-110381882 - T2940 COSM4661498 c.1344_1345insA p.A449fs*5 Insertion - Frameshift 12:110377405-110377406 - LIM2551 COSM4643650 c.1104C>T p.L368L Substitution - coding silent 12:110381780-110381780 - B86 COSM1746743 c.862G>C p.E288Q Substitution - Missense 12:110382916-110382916 - 2492723 COSM5722036 c.215C>T p.S72F Substitution - Missense 12:110396441-110396441 - TCGA-B6-A0RV-01 COSM4816252 c.430G>A p.E144K Substitution - Missense 12:110395181-110395181 - 587222 COSM1182717 c.1168C>T p.R390* Substitution - Nonsense 12:110377582-110377582 - TCGA-AP-A0LM-01 COSM934950 c.1566G>A p.E522E Substitution - coding silent 12:110374276-110374276 - TCGA-B6-A0RV-01 COSM430316 c.328G>A p.E110K Substitution - Missense 12:110395181-110395181 - TCGA-DU-7306-01 COSM3967975 c.817C>G p.L273V Substitution - Missense 12:110386429-110386429 - TCGA-AC-A23H-01 COSM3810978 c.1395G>A p.L465L Substitution - coding silent 12:110376179-110376179 - TCGA-HU-A4GX-01 COSM4038643 c.967C>T p.R323W Substitution - Missense 12:110381917-110381917 - TCGA-BP-4976-01 COSM467777 c.1289T>A p.L430* Substitution - Nonsense 12:110377461-110377461 - 587342 COSM1182718 c.718T>A p.L240M Substitution - Missense 12:110386426-110386426 - TCGA-G2-A2EC-01 COSM1298906 c.652G>C p.E218Q Substitution - Missense 12:110387863-110387863 - TCGA-BR-4361-01 COSM4038649 c.334A>G p.K112E Substitution - Missense 12:110396322-110396322 - TCGA-B5-A0JY-01 COSM1586161 c.358A>C p.T120P Substitution - Missense 12:110396298-110396298 - 282-01-12TD COSM691285 c.936-9T>C p.? Unknown 12:110381957-110381957 - 385 COSM3687948 c.1189C>T p.R397W Substitution - Missense 12:110381797-110381797 - TCGA-G3-A5SL-01 COSM4929609 c.1079A>G p.Y360C Substitution - Missense 12:110381907-110381907 - T3202 COSM4661496 c.1655C>T p.A552V Substitution - Missense 12:110374187-110374187 - TCGA-EE-A17Y-06 COSM3455959 c.1606A>T p.M536L Substitution - Missense 12:110374236-110374236 - TCGA-D1-A103-01 COSM934952 c.1408G>A p.A470T Substitution - Missense 12:110376166-110376166 - S0035 COSM5882182 c.1110T>A p.S370R Substitution - Missense 12:110381876-110381876 - TCGA-A5-A0G9-01 COSM934954 c.885C>T p.C295C Substitution - coding silent 12:110382893-110382893 - T2940 COSM1476116 c.1348G>A p.V450I Substitution - Missense 12:110377504-110377504 - B86-Tumor COSM1746742 c.964G>C p.E322Q Substitution - Missense 12:110382916-110382916 - TCGA-AA-3821-01 COSM294113 c.847C>T p.R283* Substitution - Nonsense 12:110382931-110382931 - PD7219a COSM5775136 c.520+6G>A p.? Unknown 12:110388506-110388506 - TCGA-EE-A29M-06 COSM3455964 c.1396G>A p.D466N Substitution - Missense 12:110377456-110377456 - DLD1 COSM4622423 c.715T>A p.W239R Substitution - Missense 12:110387800-110387800 - 2521252 COSM5889185 c.1358-7C>T p.? Unknown 12:110376223-110376223 - TCGA-CJ-4870-01 COSM3359534 c.729T>C p.Y243Y Substitution - coding silent 12:110387786-110387786 - B86 COSM1746742 c.964G>C p.E322Q Substitution - Missense 12:110382916-110382916 - 8067075 COSM3772247 c.18C>G p.A6A Substitution - coding silent 12:110403712-110403712 - PD7219a COSM5775135 c.622+6G>A p.? Unknown 12:110388506-110388506 - TCGA-EE-A3AF-06 COSM3455967 c.802C>T p.L268F Substitution - Missense 12:110386342-110386342 - TCGA-HU-A4GX-01 COSM4038642 c.1069C>T p.R357W Substitution - Missense 12:110381917-110381917 - 2492723 COSM5722037 c.113C>T p.S38F Substitution - Missense 12:110396441-110396441 - TCGA-B5-A11E-01 COSM1586162 c.387T>G p.S129R Substitution - Missense 12:110396269-110396269 - TCGA-AP-A0LM-01 COSM1586166 c.1668G>A p.E556E Substitution - coding silent 12:110374276-110374276 - TCGA-EE-A2A2-06 COSM3455960 c.1683C>T p.A561A Substitution - coding silent 12:110374261-110374261 - 017T COSM1727842 c.923G>T p.W308L Substitution - Missense 12:110382855-110382855 - T3202 COSM4661501 c.984A>G p.G328G Substitution - coding silent 12:110382896-110382896 - 282-01-12TD COSM4203093 c.1038-9T>C p.? Unknown 12:110381957-110381957 - TCGA-EE-A2GI-06 COSM3455966 c.904C>T p.P302S Substitution - Missense 12:110386342-110386342 - CSCC-45-T COSM4530053 c.1561G>A p.E521K Substitution - Missense 12:110374281-110374281 - HCA7 COSM4629878 c.611T>G p.V204G Substitution - Missense 12:110387802-110387802 - ACINAR29 COSM1732825 c.1663G>T p.E555* Substitution - Nonsense 12:110374281-110374281 - TCGA-D1-A103-01 COSM1586165 c.1607T>C p.L536P Substitution - Missense 12:110376069-110376069 - 193 COSM1741698 c.1603G>A p.D535N Substitution - Missense 12:110374239-110374239 - HCC73 COSM1605556 c.919+6T>C p.? Unknown 12:110386321-110386321 - TCGA-HU-8602-01 COSM4038648 c.259G>A p.G87R Substitution - Missense 12:110396295-110396295 - pfg068T COSM4760096 c.626A>G p.Y209C Substitution - Missense 12:110387787-110387787 - TCGA-G2-A2EC-01 COSM1298907 c.550G>C p.E184Q Substitution - Missense 12:110387863-110387863 - B86-Tumor COSM1746743 c.862G>C p.E288Q Substitution - Missense 12:110382916-110382916 - TCGA-AO-A1KS-01 COSM1476119 c.257C>T p.S86F Substitution - Missense 12:110396399-110396399 - 7b COSM4657616 c.1799G>C p.*600S Nonstop extension 12:110374145-110374145 - TCGA-CJ-4870-01 COSM3359535 c.627T>C p.Y209Y Substitution - coding silent 12:110387786-110387786 - TCGA-DA-A3F3-06 COSM1706267 c.1012A>G p.S338G Substitution - Missense 12:110381872-110381872 - 66 COSM5743586 c.731C>T p.A244V Substitution - Missense 12:110386413-110386413 - TCGA-AZ-4615-01 COSM3687949 c.1087C>T p.R363W Substitution - Missense 12:110381797-110381797 - pfg068T COSM4760095 c.728A>G p.Y243C Substitution - Missense 12:110387787-110387787 - SC_9092 COSM5562023 c.77C>T p.P26L Substitution - Missense 12:110403653-110403653 - PD4125a COSM159049 c.1564G>A p.E522K Substitution - Missense 12:110374278-110374278 - TCGA-DK-A3IK-01 COSM1298909 c.517C>G p.L173V Substitution - Missense 12:110388515-110388515 - CHC879T COSM4806180 c.1061G>A p.R354H Substitution - Missense 12:110381925-110381925 - RK182_C01 COSM1628373 c.1612G>A p.G538R Substitution - Missense 12:110374230-110374230 - TCGA-AA-3663-01 COSM1358697 c.450delA p.K150fs*22 Deletion - Frameshift 12:110395161-110395161 - RK182_C01 COSM1628372 c.1714G>A p.G572R Substitution - Missense 12:110374230-110374230 - T2940 COSM1476117 c.1246G>A p.V416I Substitution - Missense 12:110377504-110377504 - TCGA-HU-A4GQ-01 COSM4038641 c.1618G>T p.G540W Substitution - Missense 12:110374224-110374224 - 2492722 COSM5722036 c.215C>T p.S72F Substitution - Missense 12:110396441-110396441 - 587342 COSM1197869 c.820T>A p.L274M Substitution - Missense 12:110386426-110386426 - 017T COSM1727841 c.1025G>T p.W342L Substitution - Missense 12:110382855-110382855 - 9227_T COSM5042038 c.787G>A p.A263T Substitution - Missense 12:110386357-110386357 - TCGA-AO-A1KS-01 COSM1476120 c.155C>T p.S52F Substitution - Missense 12:110396399-110396399 - TCGA-D1-A101-01 COSM934956 c.795G>A p.M265I Substitution - Missense 12:110386349-110386349 - TCGA-AA-3966-01 COSM272332 c.1195G>A p.V399I Substitution - Missense 12:110377555-110377555 - TCGA-EE-A3AF-06 COSM3455966 c.904C>T p.P302S Substitution - Missense 12:110386342-110386342 - TCGA-CG-4469-01 COSM4038651 c.82C>T p.P28S Substitution - Missense 12:110403648-110403648 - PET052T COSM5824777 c.352G>T p.D118Y Substitution - Missense 12:110395157-110395157 - TCGA-B5-A11E-01 COSM934953 c.1061G>T p.R354I Substitution - Missense 12:110381823-110381823 - TCGA-HU-8602-01 COSM4038645 c.366T>A p.N122K Substitution - Missense 12:110396290-110396290 - Pat_08_B COSM5840091 c.1583C>A p.A528E Substitution - Missense 12:110376093-110376093 - TCGA-DU-7306-01 COSM3967976 c.715C>G p.L239V Substitution - Missense 12:110386429-110386429 - HCC73 COSM1605557 c.817+6T>C p.? Unknown 12:110386321-110386321 - TCGA-D9-A3Z1-06 COSM3455962 c.1657G>A p.E553K Substitution - Missense 12:110374287-110374287 - TCGA-AA-A010-01 COSM299053 c.1086T>C p.F362F Substitution - coding silent 12:110381798-110381798 - 9227_T COSM5042037 c.889G>A p.A297T Substitution - Missense 12:110386357-110386357 - LIM2551 COSM4643649 c.1206C>T p.L402L Substitution - coding silent 12:110381780-110381780 - TCGA-AZ-4615-01 COSM5139647 c.345delA p.V116fs*1 Deletion - Frameshift 12:110396311-110396311 - TCGA-14-3476-01 COSM3398340 c.580C>T p.Q194* Substitution - Nonsense 12:110387833-110387833 - TCGA-C8-A1HM-01 COSM1476118 c.1243G>A p.E415K Substitution - Missense 12:110377609-110377609 - HCC73T COSM1605557 c.817+6T>C p.? Unknown 12:110386321-110386321 - TCGA-D9-A3Z1-06 COSM3455963 c.1555G>A p.E519K Substitution - Missense 12:110374287-110374287 - TCGA-DA-A3F3-06 COSM1706266 c.1114A>G p.S372G Substitution - Missense 12:110381872-110381872 - YUFARCI COSM1706267 c.1012A>G p.S338G Substitution - Missense 12:110381872-110381872 - TCGA-EE-A2A2-06 COSM3455961 c.1581C>T p.A527A Substitution - coding silent 12:110374261-110374261 - CSB1 COSM5027694 c.871G>A p.E291K Substitution - Missense 12:110382907-110382907 - T3202 COSM4661502 c.882A>G p.G294G Substitution - coding silent 12:110382896-110382896 - TCGA-AZ-4615-01 COSM5139648 c.243delA p.V82fs*1 Deletion - Frameshift 12:110396311-110396311 - TCGA-HU-A4GQ-01 COSM4038640 c.1720G>T p.G574W Substitution - Missense 12:110374224-110374224 - ccRCC-58 COSM1659629 c.873C>G p.V291V Substitution - coding silent 12:110386373-110386373 - DLD1 COSM4622424 c.613T>A p.W205R Substitution - Missense 12:110387800-110387800 - TCGA-AD-5900-01 COSM1358695 c.569C>T p.T190I Substitution - Missense 12:110388565-110388565 - YUFARCI COSM1706266 c.1114A>G p.S372G Substitution - Missense 12:110381872-110381872 - PET052T COSM5824776 c.454G>T p.D152Y Substitution - Missense 12:110395157-110395157 - TCGA-A4-8518-01 COSM3986622 c.1560A>G p.V520V Substitution - coding silent 12:110376116-110376116 - TCGA-AZ-4615-01 COSM3687948 c.1189C>T p.R397W Substitution - Missense 12:110381797-110381797 - TCGA-EM-A4FV-01 COSM934950 c.1566G>A p.E522E Substitution - coding silent 12:110374276-110374276 - TCGA-B0-4718-01 COSM3359533 c.892T>A p.F298I Substitution - Missense 12:110382886-110382886 - 3_RESISTANT COSM1723792 c.940C>T p.L314L Substitution - coding silent 12:110382940-110382940 - TCGA-JW-A5VI-01 COSM4829405 c.1042C>G p.H348D Substitution - Missense 12:110381944-110381944 - TCGA-JW-A5VI-01 COSM4829406 c.940C>G p.H314D Substitution - Missense 12:110381944-110381944 - T2940 COSM4661497 c.1446_1447insA p.A483fs*5 Insertion - Frameshift 12:110377405-110377406 - HCC73T COSM1605556 c.919+6T>C p.? Unknown 12:110386321-110386321 - S0035 COSM5882183 c.1008T>A p.S336R Substitution - Missense 12:110381876-110381876 - TCGA-EE-A2GI-06 COSM3455967 c.802C>T p.L268F Substitution - Missense 12:110386342-110386342 - 2492721 COSM5722037 c.113C>T p.S38F Substitution - Missense 12:110396441-110396441 - ccRCC-58 COSM1659630 c.771C>G p.V257V Substitution - coding silent 12:110386373-110386373 - TCGA-B0-4718-01 COSM3359532 c.994T>A p.F332I Substitution - Missense 12:110382886-110382886 - Pat_41_B COSM5840093 c.548G>A p.G183D Substitution - Missense 12:110388586-110388586 - 7b COSM4657617 c.1697G>C p.*566S Nonstop extension 12:110374145-110374145 - 37M COSM5583270 c.1645G>A p.D549N Substitution - Missense 12:110374197-110374197 - SC_9059 COSM5565607 c.989G>A p.R330H Substitution - Missense 12:110382891-110382891 - 66 COSM5743585 c.833C>T p.A278V Substitution - Missense 12:110386413-110386413 - 193 COSM1741697 c.1705G>A p.D569N Substitution - Missense 12:110374239-110374239 - TCGA-BR-4361-01 COSM4038650 c.232A>G p.K78E Substitution - Missense 12:110396322-110396322 - TCGA-B5-A0K2-01 COSM934955 c.872A>C p.E291A Substitution - Missense 12:110382906-110382906 - TCGA-EE-A17Y-06 COSM3455958 c.1708A>T p.M570L Substitution - Missense 12:110374236-110374236 - STC263 COSM5051324 c.907C>A p.Q303K Substitution - Missense 12:110382871-110382871 - 587222 COSM1197868 c.1270C>T p.R424* Substitution - Nonsense 12:110377582-110377582 - 2492720 COSM5722036 c.215C>T p.S72F Substitution - Missense 12:110396441-110396441 - RK305_C01 COSM4943770 c.370A>G p.I124V Substitution - Missense 12:110395139-110395139 - TCGA-EI-6513-01 COSM3416470 c.203+1G>T p.? Unknown 12:110403526-110403526 - TCGA-G3-A5SL-01 COSM4929610 c.977A>G p.Y326C Substitution - Missense 12:110381907-110381907 - RK305_C01 COSM4943769 c.472A>G p.I158V Substitution - Missense 12:110395139-110395139 - TCGA-G9-6365-01 COSM1127575 c.1273G>T p.E425* Substitution - Nonsense 12:110377477-110377477 - CHC879T COSM4806181 c.959G>A p.R320H Substitution - Missense 12:110381925-110381925 - TCGA-37-3783-01 COSM691283 c.246G>T p.V82V Substitution - coding silent 12:110396308-110396308 - TCGA-A4-8518-01 COSM3986623 c.1458A>G p.V486V Substitution - coding silent 12:110376116-110376116 - 3_RESISTANT COSM1723793 c.838C>T p.L280L Substitution - coding silent 12:110382940-110382940 - TCGA-AD-5900-01 COSM1358696 c.467C>T p.T156I Substitution - Missense 12:110388565-110388565 - TCGA-E9-A1RF-01 COSM1476116 c.1348G>A p.V450I Substitution - Missense 12:110377504-110377504 - T3202 COSM4661495 c.1757C>T p.A586V Substitution - Missense 12:110374187-110374187 - TCGA-14-3476-01 COSM3398339 c.682C>T p.Q228* Substitution - Nonsense 12:110387833-110387833 - 2492722 COSM5722037 c.113C>T p.S38F Substitution - Missense 12:110396441-110396441 - Pat_41_B COSM5840094 c.446G>A p.G149D Substitution - Missense 12:110388586-110388586 - TCGA-HU-8602-01 COSM4038647 c.361G>A p.G121R Substitution - Missense 12:110396295-110396295 - TCGA-AA-3663-01 COSM1358698 c.348delA p.K116fs*22 Deletion - Frameshift 12:110395161-110395161 - CSCC-45-T COSM4530052 c.1663G>A p.E555K Substitution - Missense 12:110374281-110374281 - 385 COSM3687949 c.1087C>T p.R363W Substitution - Missense 12:110381797-110381797 - LC_S46 COSM1188606 c.68T>C p.V23A Substitution - Missense 12:110403662-110403662 - CHC879T COSM4806180 c.1061G>A p.R354H Substitution - Missense 12:110381925-110381925 - TCGA-AC-A23H-01 COSM3810977 c.1497G>A p.L499L Substitution - coding silent 12:110376179-110376179 - TCGA-HU-8602-01 COSM4038646 c.264T>A p.N88K Substitution - Missense 12:110396290-110396290 - TCGA-B5-A0JY-01 COSM934958 c.256A>C p.T86P Substitution - Missense 12:110396298-110396298 - 37M COSM5583269 c.1747G>A p.D583N Substitution - Missense 12:110374197-110374197 - TCGA-EI-6513-01 COSM3416471 c.101+1G>T p.? Unknown 12:110403526-110403526 - STC263 COSM5051323 c.1009C>A p.Q337K Substitution - Missense 12:110382871-110382871 - 2521252 COSM5889184 c.1460-7C>T p.? Unknown 12:110376223-110376223 - TCGA-B5-A11E-01 COSM1586163 c.1163G>T p.R388I Substitution - Missense 12:110381823-110381823 - TCGA-EM-A4FV-01 COSM1586166 c.1668G>A p.E556E Substitution - coding silent 12:110374276-110374276 - T263 COSM4661499 c.1347C>T p.T449T Substitution - coding silent 12:110377505-110377505 - PD4125a COSM4809457 c.1666G>A p.E556K Substitution - Missense 12:110374278-110374278 - 2492721 COSM5722036 c.215C>T p.S72F Substitution - Missense 12:110396441-110396441 - Pat_08_B COSM5840092 c.1481C>A p.A494E Substitution - Missense 12:110376093-110376093 - TCGA-A8-A06Q-01 COSM430315 c.1002G>A p.L334L Substitution - coding silent 12:110381882-110381882 - TCGA-E9-A1RF-01 COSM1476117 c.1246G>A p.V416I Substitution - Missense 12:110377504-110377504 - TCGA-D1-A103-01 COSM934951 c.1505T>C p.L502P Substitution - Missense 12:110376069-110376069 - TCGA-37-3783-01 COSM1646462 c.348G>T p.V116V Substitution - coding silent 12:110396308-110396308 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.719935 12q24.11 606949

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F294C c.881T>G 12 110824170 COREAD A G 3-UTRSNV . c.1797+34T>C 12 110811918 CM A T Missense p.F332I c.994T>A 12 110820691 RCCC A T Nonsense p.L464* c.1391T>A 12 110815266 RCCC C A Missense p.R388I c.1163G>T 12 110819628 LUAD C A Nonsense p.E459* c.1375G>T 12 110815282 PRAD C A SpliceAcceptorSNV . c.1235-1G>T 12 110815423 LUAD C T CdsStopSNV . c.1797G>A 12 110811952 COREAD C T Missense p.D466N c.1396G>A 12 110815261 CM C T Missense p.E325K c.973G>A 12 110820712 BRCA C T Missense p.E556K c.1666G>A 12 110812083 BRCA C T Missense p.R186H c.557G>A 12 110826382 SCLC C T Missense p.V450I c.1348G>A 12 110815309 BRCA C T Synonymous p.L368L c.1104G>A 12 110819687 BRCA G A 3-UTRSNV . c.1797+32C>T 12 110811920 BRCA G A Missense p.A521V c.1562C>T 12 110813919 LUAD G A Missense p.P302S c.904C>T 12 110824147 CM G A Missense p.S86F c.257C>T 12 110834204 BRCA G A Synonymous p.A561A c.1683C>T 12 110812066 CM G A Synonymous p.F518F c.1554C>T 12 110813927 CM G C 3-UTRSNV . c.1797+364C>G 12 110811588 MB G C Missense p.L273V c.817C>G 12 110824234 LGG T A Missense p.M570L c.1708A>T 12 110812041 CM T C IntronicSNV . c.1235-1073A>G 12 110816495 HC T C Missense p.S372G c.1114A>G 12 110819677 CM T C Missense p.Y93C c.278A>G 12 110834183 HNSC T G 3-UTRSNV . c.1797+305A>C 12 110811647 HC T G 3-UTRSNV . c.1797+312A>C 12 110811640 HC