Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 169492101 169492101 + Silent SNP C C T TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chr3:169492101C>T c.18C>T c.(16-18)caC>caT p.H6H ACC 3 169500336 169500336 + Missense_Mutation SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr3:169500336G>A c.1304G>A c.(1303-1305)cGt>cAt p.R435H BLCA 3 169496653 169496653 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr3:169496653G>A c.364G>A c.(364-366)Gct>Act p.A122T BLCA 3 169496678 169496678 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr3:169496678C>T c.389C>T c.(388-390)tCt>tTt p.S130F BLCA 3 169497073 169497073 + Missense_Mutation SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:169497073A>C c.784A>C c.(784-786)Aaa>Caa p.K262Q BLCA 3 169497252 169497252 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr3:169497252G>T c.963G>T c.(961-963)atG>atT p.M321I BLCA 3 169500329 169500329 + Missense_Mutation SNP C C T TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr3:169500329C>T c.1297C>T c.(1297-1299)Cat>Tat p.H433Y BLCA 3 169500368 169500368 + Missense_Mutation SNP G G T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr3:169500368G>T c.1336G>T c.(1336-1338)Gat>Tat p.D446Y BLCA 3 169502469 169502469 + Nonsense_Mutation SNP A A T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 g.chr3:169502469A>T c.1543A>T c.(1543-1545)Aag>Tag p.K515* BLCA 3 169504460 169504460 + Silent SNP A A G TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr3:169504460A>G c.1827A>G c.(1825-1827)ttA>ttG p.L609L BRCA 3 169492273 169492273 + Missense_Mutation SNP G G T TCGA-A8-A099-01A-11W-A019-09 TCGA-A8-A099-10A-01W-A021-09 g.chr3:169492273G>T c.190G>T c.(190-192)Gat>Tat p.D64Y BRCA 3 169500290 169500290 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:169500290T>G c.1258T>G c.(1258-1260)Tgt>Ggt p.C420G BRCA 3 169500356 169500356 + Missense_Mutation SNP C C T TCGA-AN-A04D-01A-21W-A050-09 TCGA-AN-A04D-10A-01W-A055-09 g.chr3:169500356C>T c.1324C>T c.(1324-1326)Cct>Tct p.P442S BRCA 3 169500427 169500427 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr3:169500427T>A c.1395T>A c.(1393-1395)caT>caA p.H465Q BRCA 3 169501311 169501311 + Silent SNP C C A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr3:169501311C>A c.1446C>A c.(1444-1446)tcC>tcA p.S482S BRCA 3 169501318 169501318 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:169501318G>C c.1453G>C c.(1453-1455)Gag>Cag p.E485Q CESC 3 169492152 169492152 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr3:169492152C>G c.69C>G c.(67-69)ctC>ctG p.L23L CESC 3 169496595 169496595 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr3:169496595C>G c.306C>G c.(304-306)ctC>ctG p.L102L CESC 3 169496994 169496994 + Silent SNP C C A TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 g.chr3:169496994C>A c.705C>A c.(703-705)ctC>ctA p.L235L CHOL 3 169504301 169504301 + Missense_Mutation SNP G G T TCGA-W5-AA34-01A-11D-A417-09 TCGA-W5-AA34-10A-01D-A41A-09 g.chr3:169504301G>T c.1668G>T c.(1666-1668)aaG>aaT p.K556N COAD 3 169496638 169496638 + Missense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:169496638G>T c.349G>T c.(349-351)Gat>Tat p.D117Y COAD 3 169496830 169496832 + In_Frame_Del DEL AAG AAG - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:169496830_169496832delAAG c.541_543delAAG c.(541-543)aagdel p.K184del COAD 3 169500313 169500313 + Silent SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:169500313C>A c.1281C>A c.(1279-1281)gcC>gcA p.A427A COAD 3 169502473 169502473 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:169502473A>C c.1547A>C c.(1546-1548)aAg>aCg p.K516T COAD 3 169504444 169504444 + Frame_Shift_Del DEL T T - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:169504444delT c.1811delT c.(1810-1812)attfs p.I604fs COADREAD 3 169496638 169496638 + Missense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:169496638G>T c.349G>T c.(349-351)Gat>Tat p.D117Y COADREAD 3 169496770 169496770 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:169496770G>T c.481G>T c.(481-483)Gat>Tat p.D161Y COADREAD 3 169496830 169496832 + In_Frame_Del DEL AAG AAG - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:169496830_169496832delAAG c.541_543delAAG c.(541-543)aagdel p.K184del COADREAD 3 169500313 169500313 + Silent SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:169500313C>A c.1281C>A c.(1279-1281)gcC>gcA p.A427A COADREAD 3 169502473 169502473 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:169502473A>C c.1547A>C c.(1546-1548)aAg>aCg p.K516T COADREAD 3 169504444 169504444 + Frame_Shift_Del DEL T T - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:169504444delT c.1811delT c.(1810-1812)attfs p.I604fs ESCA 3 169492192 169492192 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 g.chr3:169492192G>T c.109G>T c.(109-111)Gct>Tct p.A37S ESCA 3 169496700 169496700 + Silent SNP A A G TCGA-LN-A7HV-01A-21D-A351-09 TCGA-LN-A7HV-10A-01D-A351-09 g.chr3:169496700A>G c.411A>G c.(409-411)gaA>gaG p.E137E ESCA 3 169496707 169496707 + Nonsense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 g.chr3:169496707C>T c.418C>T c.(418-420)Caa>Taa p.Q140* HNSC 3 169492266 169492266 + Silent SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr3:169492266C>G c.183C>G c.(181-183)gtC>gtG p.V61V HNSC 3 169496709 169496709 + Silent SNP A A G TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 g.chr3:169496709A>G c.420A>G c.(418-420)caA>caG p.Q140Q HNSC 3 169496734 169496734 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 g.chr3:169496734G>C c.445G>C c.(445-447)Gat>Cat p.D149H HNSC 3 169496746 169496746 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr3:169496746C>G c.457C>G c.(457-459)Cga>Gga p.R153G HNSC 3 169500368 169500368 + Missense_Mutation SNP G G T TCGA-MZ-A5BI-01A-31D-A34J-08 TCGA-MZ-A5BI-10C-01D-A34M-08 g.chr3:169500368G>T c.1336G>T c.(1336-1338)Gat>Tat p.D446Y HNSC 3 169504251 169504251 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr3:169504251G>C c.1618G>C c.(1618-1620)Gaa>Caa p.E540Q HNSC 3 169504378 169504378 + Missense_Mutation SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 g.chr3:169504378C>G c.1745C>G c.(1744-1746)aCt>aGt p.T582S KIPAN 3 169496621 169496621 + Missense_Mutation SNP G G A TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr3:169496621G>A c.332G>A c.(331-333)tGc>tAc p.C111Y KIPAN 3 169496760 169496761 + Frame_Shift_Ins INS - - G TCGA-Y8-A897-01A-11D-A35Z-10 TCGA-Y8-A897-10A-01D-A35Z-10 g.chr3:169496760_169496761insG c.471_472insG c.(472-474)gtafs p.V158fs KIPAN 3 169496863 169496863 + Frame_Shift_Del DEL G G - TCGA-CJ-5671-01A-11D-1534-10 TCGA-CJ-5671-11A-01D-1534-10 g.chr3:169496863delG c.574delG c.(574-576)gggfs p.G192fs KIPAN 3 169496987 169496987 + Missense_Mutation SNP C C T TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr3:169496987C>T c.698C>T c.(697-699)tCa>tTa p.S233L KIPAN 3 169502437 169502437 + Missense_Mutation SNP G G T TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chr3:169502437G>T c.1511G>T c.(1510-1512)tGt>tTt p.C504F KIPAN 3 169504386 169504386 + Missense_Mutation SNP C C G TCGA-CJ-4881-01A-01D-1373-10 TCGA-CJ-4881-11A-01D-1373-10 g.chr3:169504386C>G c.1753C>G c.(1753-1755)Cct>Gct p.P585A KIRC 3 169496863 169496863 + Frame_Shift_Del DEL G G - TCGA-CJ-5671-01A-11D-1534-10 TCGA-CJ-5671-11A-01D-1534-10 g.chr3:169496863delG c.574delG c.(574-576)gggfs p.G192fs KIRC 3 169496987 169496987 + Missense_Mutation SNP C C T TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr3:169496987C>T c.698C>T c.(697-699)tCa>tTa p.S233L KIRC 3 169502437 169502437 + Missense_Mutation SNP G G T TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chr3:169502437G>T c.1511G>T c.(1510-1512)tGt>tTt p.C504F KIRC 3 169504386 169504386 + Missense_Mutation SNP C C G TCGA-CJ-4881-01A-01D-1373-10 TCGA-CJ-4881-11A-01D-1373-10 g.chr3:169504386C>G c.1753C>G c.(1753-1755)Cct>Gct p.P585A KIRP 3 169496621 169496621 + Missense_Mutation SNP G G A TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr3:169496621G>A c.332G>A c.(331-333)tGc>tAc p.C111Y KIRP 3 169496760 169496761 + Frame_Shift_Ins INS - - G TCGA-Y8-A897-01A-11D-A35Z-10 TCGA-Y8-A897-10A-01D-A35Z-10 g.chr3:169496760_169496761insG c.471_472insG c.(472-474)gtafs p.V158fs LIHC 3 169504444 169504444 + Frame_Shift_Del DEL T T - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:169504444delT c.1811delT c.(1810-1812)attfs p.I604fs LUAD 3 169496638 169496638 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr3:169496638G>A c.349G>A c.(349-351)Gat>Aat p.D117N LUAD 3 169496852 169496852 + Missense_Mutation SNP C C T TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr3:169496852C>T c.563C>T c.(562-564)tCc>tTc p.S188F LUAD 3 169500335 169500335 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr3:169500335C>T c.1303C>T c.(1303-1305)Cgt>Tgt p.R435C LUAD 3 169501310 169501310 + Missense_Mutation SNP C C T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr3:169501310C>T c.1445C>T c.(1444-1446)tCc>tTc p.S482F LUSC 3 169492342 169492342 + Missense_Mutation SNP C C A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr3:169492342C>A c.259C>A c.(259-261)Ctt>Att p.L87I LUSC 3 169501281 169501281 + Silent SNP A A T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr3:169501281A>T c.1416A>T c.(1414-1416)atA>atT p.I472I LUSC 3 169501285 169501285 + Missense_Mutation SNP G G T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr3:169501285G>T c.1420G>T c.(1420-1422)Ggt>Tgt p.G474C PAAD 3 169496762 169496762 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:169496762T>C c.473T>C c.(472-474)gTa>gCa p.V158A PRAD 3 169497118 169497118 + Missense_Mutation SNP A A G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 g.chr3:169497118A>G c.829A>G c.(829-831)Ata>Gta p.I277V READ 3 169496770 169496770 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:169496770G>T c.481G>T c.(481-483)Gat>Tat p.D161Y SKCM 3 169492152 169492152 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:169492152C>T c.69C>T c.(67-69)ctC>ctT p.L23L SKCM 3 169496853 169496853 + Silent SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr3:169496853C>T c.564C>T c.(562-564)tcC>tcT p.S188S SKCM 3 169497049 169497049 + Missense_Mutation SNP G G T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 g.chr3:169497049G>T c.760G>T c.(760-762)Gtt>Ttt p.V254F SKCM 3 169497339 169497339 + Missense_Mutation SNP A A T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr3:169497339A>T c.1050A>T c.(1048-1050)agA>agT p.R350S

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 3 169485644 169485644 single base substitution C T upstream_gene_variant BLCA-US 3 169485742 169485742 single base substitution C G upstream_gene_variant BLCA-US 3 169496653 169496653 single base substitution G A intron_variant BLCA-US 3 169496653 169496653 single base substitution G A missense_variant A122T 364G>A BLCA-US 3 169496653 169496653 single base substitution G A upstream_gene_variant BLCA-US 3 169502469 169502469 single base substitution A T 3_prime_UTR_variant BLCA-US 3 169502469 169502469 single base substitution A T downstream_gene_variant BLCA-US 3 169502469 169502469 single base substitution A T intron_variant BLCA-US 3 169502469 169502469 single base substitution A T stop_gained K515* 1543A>T BRCA-EU 3 169486048 169486048 single base substitution C T upstream_gene_variant BRCA-EU 3 169487833 169487833 single base substitution A G upstream_gene_variant BRCA-EU 3 169489911 169489911 single base substitution T A upstream_gene_variant BRCA-EU 3 169489912 169489912 single base substitution C G upstream_gene_variant BRCA-EU 3 169490255 169490255 single base substitution C G upstream_gene_variant BRCA-EU 3 169490871 169490871 single base substitution C G 5_prime_UTR_variant BRCA-EU 3 169490871 169490871 single base substitution C G upstream_gene_variant BRCA-EU 3 169491132 169491133 deletion of <=200bp AG - 5_prime_UTR_variant BRCA-EU 3 169491132 169491133 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 3 169491607 169491607 single base substitution C G intron_variant BRCA-EU 3 169491607 169491607 single base substitution C G upstream_gene_variant BRCA-EU 3 169492746 169492746 single base substitution C G intron_variant BRCA-EU 3 169492746 169492746 single base substitution C G upstream_gene_variant BRCA-EU 3 169493617 169493617 single base substitution C T intron_variant BRCA-EU 3 169493617 169493617 single base substitution C T upstream_gene_variant BRCA-EU 3 169494534 169494534 single base substitution C G intron_variant BRCA-EU 3 169494534 169494534 single base substitution C G upstream_gene_variant BRCA-EU 3 169494772 169494772 single base substitution C T intron_variant BRCA-EU 3 169494772 169494772 single base substitution C T upstream_gene_variant BRCA-EU 3 169494776 169494776 single base substitution G T intron_variant BRCA-EU 3 169494776 169494776 single base substitution G T upstream_gene_variant BRCA-EU 3 169496276 169496276 deletion of <=200bp A - intron_variant BRCA-EU 3 169496276 169496276 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 169496587 169496587 single base substitution G T intron_variant BRCA-EU 3 169496587 169496587 single base substitution G T missense_variant D100Y 298G>T BRCA-EU 3 169496587 169496587 single base substitution G T upstream_gene_variant BRCA-EU 3 169497100 169497100 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 169497100 169497100 single base substitution G C exon_variant BRCA-EU 3 169497100 169497100 single base substitution G C missense_variant E271Q 811G>C BRCA-EU 3 169497796 169497796 single base substitution C G intron_variant BRCA-EU 3 169498153 169498153 single base substitution C T intron_variant BRCA-EU 3 169499386 169499386 single base substitution G A intron_variant BRCA-EU 3 169501195 169501195 single base substitution G C intron_variant BRCA-EU 3 169501579 169501579 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 169501579 169501579 single base substitution G C downstream_gene_variant BRCA-EU 3 169501579 169501579 single base substitution G C intron_variant BRCA-EU 3 169501763 169501763 single base substitution G C downstream_gene_variant BRCA-EU 3 169501763 169501763 single base substitution G C intron_variant BRCA-EU 3 169502154 169502154 single base substitution T G downstream_gene_variant BRCA-EU 3 169502154 169502154 single base substitution T G intron_variant BRCA-EU 3 169502192 169502192 single base substitution C T downstream_gene_variant BRCA-EU 3 169502192 169502192 single base substitution C T intron_variant BRCA-EU 3 169502860 169502860 single base substitution G A downstream_gene_variant BRCA-EU 3 169502860 169502860 single base substitution G A intron_variant BRCA-EU 3 169503405 169503405 single base substitution G A downstream_gene_variant BRCA-EU 3 169503405 169503405 single base substitution G A intron_variant BRCA-EU 3 169503592 169503592 single base substitution T C downstream_gene_variant BRCA-EU 3 169503592 169503592 single base substitution T C intron_variant BRCA-EU 3 169503817 169503817 single base substitution A C downstream_gene_variant BRCA-EU 3 169503817 169503817 single base substitution A C intron_variant BRCA-EU 3 169503990 169503990 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 169503990 169503990 insertion of <=200bp - T intron_variant BRCA-EU 3 169504179 169504179 single base substitution A G downstream_gene_variant BRCA-EU 3 169504179 169504179 single base substitution A G intron_variant BRCA-EU 3 169504182 169504182 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 169504182 169504182 deletion of <=200bp T - intron_variant BRCA-EU 3 169504246 169504246 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 169504246 169504246 single base substitution T G downstream_gene_variant BRCA-EU 3 169504246 169504246 single base substitution T G missense_variant L509W 1526T>G BRCA-EU 3 169504246 169504246 single base substitution T G missense_variant L538W 1613T>G BRCA-EU 3 169505226 169505226 single base substitution T A 3_prime_UTR_variant BRCA-EU 3 169505226 169505226 single base substitution T A downstream_gene_variant BRCA-EU 3 169505636 169505636 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 169505636 169505636 single base substitution C T downstream_gene_variant BRCA-EU 3 169505763 169505763 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 169505763 169505763 single base substitution T C downstream_gene_variant BRCA-EU 3 169505885 169505885 single base substitution T A 3_prime_UTR_variant BRCA-EU 3 169505885 169505885 single base substitution T A downstream_gene_variant BRCA-EU 3 169507771 169507771 single base substitution C G downstream_gene_variant BRCA-EU 3 169508248 169508248 single base substitution C G downstream_gene_variant BRCA-EU 3 169508649 169508649 single base substitution G C downstream_gene_variant BRCA-EU 3 169509290 169509290 single base substitution G C downstream_gene_variant BRCA-EU 3 169510364 169510364 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 169510879 169510879 single base substitution G C downstream_gene_variant BRCA-EU 3 169511608 169511608 single base substitution G T downstream_gene_variant BRCA-EU 3 169511815 169511815 single base substitution G C downstream_gene_variant BRCA-FR 3 169491607 169491607 single base substitution C G intron_variant BRCA-FR 3 169491607 169491607 single base substitution C G upstream_gene_variant BRCA-FR 3 169494534 169494534 single base substitution C G intron_variant BRCA-FR 3 169494534 169494534 single base substitution C G upstream_gene_variant BRCA-FR 3 169494776 169494776 single base substitution G T intron_variant BRCA-FR 3 169494776 169494776 single base substitution G T upstream_gene_variant BRCA-FR 3 169497233 169497233 single base substitution G T 3_prime_UTR_variant BRCA-FR 3 169497233 169497233 single base substitution G T exon_variant BRCA-FR 3 169497233 169497233 single base substitution G T missense_variant S315I 944G>T BRCA-FR 3 169497796 169497796 single base substitution C G intron_variant BRCA-FR 3 169502192 169502192 single base substitution C T downstream_gene_variant BRCA-FR 3 169502192 169502192 single base substitution C T intron_variant BRCA-FR 3 169509290 169509290 single base substitution G C downstream_gene_variant BRCA-FR 3 169511608 169511608 single base substitution G T downstream_gene_variant BRCA-KR 3 169511469 169511469 single base substitution G A downstream_gene_variant BRCA-UK 3 169490255 169490255 single base substitution C G upstream_gene_variant BRCA-UK 3 169497057 169497057 single base substitution G A 3_prime_UTR_variant BRCA-UK 3 169497057 169497057 single base substitution G A synonymous_variant V256V 768G>A BRCA-UK 3 169497057 169497057 single base substitution G A upstream_gene_variant BRCA-US 3 169485849 169485849 single base substitution T A upstream_gene_variant BRCA-US 3 169485916 169485916 single base substitution G A upstream_gene_variant BRCA-US 3 169487258 169487258 single base substitution G T upstream_gene_variant BRCA-US 3 169487268 169487268 single base substitution G T upstream_gene_variant BRCA-US 3 169492273 169492273 single base substitution G T exon_variant BRCA-US 3 169492273 169492273 single base substitution G T missense_variant D64Y 190G>T BRCA-US 3 169492273 169492273 single base substitution G T upstream_gene_variant BRCA-US 3 169500290 169500290 single base substitution T G 3_prime_UTR_variant BRCA-US 3 169500290 169500290 single base substitution T G exon_variant BRCA-US 3 169500290 169500290 single base substitution T G missense_variant C420G 1258T>G BRCA-US 3 169500356 169500356 single base substitution C T 3_prime_UTR_variant BRCA-US 3 169500356 169500356 single base substitution C T exon_variant BRCA-US 3 169500356 169500356 single base substitution C T missense_variant P442S 1324C>T BRCA-US 3 169500427 169500427 single base substitution T A 3_prime_UTR_variant BRCA-US 3 169500427 169500427 single base substitution T A exon_variant BRCA-US 3 169500427 169500427 single base substitution T A missense_variant H465Q 1395T>A BRCA-US 3 169501311 169501311 single base substitution C A 3_prime_UTR_variant BRCA-US 3 169501311 169501311 single base substitution C A exon_variant BRCA-US 3 169501311 169501311 single base substitution C A synonymous_variant S482S 1446C>A BRCA-US 3 169501318 169501318 single base substitution G C 3_prime_UTR_variant BRCA-US 3 169501318 169501318 single base substitution G C exon_variant BRCA-US 3 169501318 169501318 single base substitution G C missense_variant E485Q 1453G>C BTCA-JP 3 169487203 169487203 single base substitution C G upstream_gene_variant BTCA-JP 3 169487219 169487219 single base substitution G C upstream_gene_variant BTCA-JP 3 169492267 169492267 deletion of <=200bp T - exon_variant BTCA-JP 3 169492267 169492267 deletion of <=200bp T - frameshift_variant F62 BTCA-JP 3 169492267 169492267 deletion of <=200bp T - upstream_gene_variant BTCA-JP 3 169496526 169496526 single base substitution A G intron_variant BTCA-JP 3 169496526 169496526 single base substitution A G upstream_gene_variant BTCA-JP 3 169497330 169497330 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 169497330 169497330 single base substitution G A exon_variant BTCA-JP 3 169497330 169497330 single base substitution G A synonymous_variant T347T 1041G>A BTCA-JP 3 169501506 169501506 deletion of <=200bp T - intron_variant BTCA-JP 3 169504182 169504182 insertion of <=200bp - T downstream_gene_variant BTCA-JP 3 169504182 169504182 insertion of <=200bp - T intron_variant CESC-US 3 169486122 169486122 single base substitution C T upstream_gene_variant CESC-US 3 169492152 169492152 single base substitution C G exon_variant CESC-US 3 169492152 169492152 single base substitution C G synonymous_variant L23L 69C>G CESC-US 3 169492152 169492152 single base substitution C G upstream_gene_variant CESC-US 3 169496595 169496595 single base substitution C G intron_variant CESC-US 3 169496595 169496595 single base substitution C G synonymous_variant L102L 306C>G CESC-US 3 169496595 169496595 single base substitution C G upstream_gene_variant CESC-US 3 169496994 169496994 single base substitution C A 3_prime_UTR_variant CESC-US 3 169496994 169496994 single base substitution C A synonymous_variant L235L 705C>A CESC-US 3 169496994 169496994 single base substitution C A upstream_gene_variant CESC-US 3 169511578 169511578 single base substitution C T downstream_gene_variant CLLE-ES 3 169488319 169488319 single base substitution A G upstream_gene_variant CLLE-ES 3 169489732 169489732 single base substitution A G upstream_gene_variant CLLE-ES 3 169505450 169505450 single base substitution T C 3_prime_UTR_variant CLLE-ES 3 169505450 169505450 single base substitution T C downstream_gene_variant COAD-US 3 169485639 169485639 single base substitution C T upstream_gene_variant COAD-US 3 169486095 169486095 single base substitution C A upstream_gene_variant COAD-US 3 169492101 169492101 single base substitution C T exon_variant COAD-US 3 169492101 169492101 single base substitution C T synonymous_variant H6H 18C>T COAD-US 3 169492101 169492101 single base substitution C T upstream_gene_variant COAD-US 3 169496801 169496801 single base substitution C T 3_prime_UTR_variant COAD-US 3 169496801 169496801 single base substitution C T missense_variant A171V 512C>T COAD-US 3 169496801 169496801 single base substitution C T upstream_gene_variant COAD-US 3 169500313 169500313 single base substitution C A 3_prime_UTR_variant COAD-US 3 169500313 169500313 single base substitution C A exon_variant COAD-US 3 169500313 169500313 single base substitution C A synonymous_variant A427A 1281C>A COAD-US 3 169500397 169500397 single base substitution T C 3_prime_UTR_variant COAD-US 3 169500397 169500397 single base substitution T C exon_variant COAD-US 3 169500397 169500397 single base substitution T C synonymous_variant S455S 1365T>C COAD-US 3 169502473 169502473 single base substitution A C 3_prime_UTR_variant COAD-US 3 169502473 169502473 single base substitution A C downstream_gene_variant COAD-US 3 169502473 169502473 single base substitution A C intron_variant COAD-US 3 169502473 169502473 single base substitution A C missense_variant K516T 1547A>C COAD-US 3 169504444 169504444 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 3 169504444 169504444 deletion of <=200bp T - downstream_gene_variant COAD-US 3 169504444 169504444 deletion of <=200bp T - frameshift_variant I575 COAD-US 3 169504444 169504444 deletion of <=200bp T - frameshift_variant I604 COCA-CN 3 169487227 169487227 single base substitution G A upstream_gene_variant COCA-CN 3 169487437 169487437 single base substitution G A upstream_gene_variant COCA-CN 3 169496799 169496799 single base substitution C T 3_prime_UTR_variant COCA-CN 3 169496799 169496799 single base substitution C T synonymous_variant G170G 510C>T COCA-CN 3 169496799 169496799 single base substitution C T upstream_gene_variant COCA-CN 3 169500389 169500389 single base substitution G A 3_prime_UTR_variant COCA-CN 3 169500389 169500389 single base substitution G A exon_variant COCA-CN 3 169500389 169500389 single base substitution G A missense_variant A453T 1357G>A COCA-CN 3 169504185 169504185 single base substitution T G downstream_gene_variant COCA-CN 3 169504185 169504185 single base substitution T G intron_variant COCA-CN 3 169511526 169511526 single base substitution T G downstream_gene_variant ESAD-UK 3 169489896 169489896 single base substitution C G upstream_gene_variant ESAD-UK 3 169490006 169490006 single base substitution C G upstream_gene_variant ESAD-UK 3 169490034 169490034 single base substitution G A upstream_gene_variant ESAD-UK 3 169492739 169492739 single base substitution A G intron_variant ESAD-UK 3 169492739 169492739 single base substitution A G upstream_gene_variant ESAD-UK 3 169495320 169495320 single base substitution G T intron_variant ESAD-UK 3 169495320 169495320 single base substitution G T upstream_gene_variant ESAD-UK 3 169496022 169496022 single base substitution C A intron_variant ESAD-UK 3 169496022 169496022 single base substitution C A upstream_gene_variant ESAD-UK 3 169496075 169496075 single base substitution C T intron_variant ESAD-UK 3 169496075 169496075 single base substitution C T upstream_gene_variant ESAD-UK 3 169497364 169497364 single base substitution T C intron_variant ESAD-UK 3 169497524 169497524 single base substitution T C intron_variant ESAD-UK 3 169499112 169499112 insertion of <=200bp - TC intron_variant ESAD-UK 3 169500417 169500417 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 169500417 169500417 single base substitution C T exon_variant ESAD-UK 3 169500417 169500417 single base substitution C T missense_variant S462F 1385C>T ESAD-UK 3 169501197 169501197 single base substitution T A intron_variant ESAD-UK 3 169502936 169502936 single base substitution T G downstream_gene_variant ESAD-UK 3 169502936 169502936 single base substitution T G intron_variant ESAD-UK 3 169505777 169505779 deletion of <=200bp TGT - 3_prime_UTR_variant ESAD-UK 3 169505777 169505779 deletion of <=200bp TGT - downstream_gene_variant ESAD-UK 3 169509933 169509933 single base substitution G A downstream_gene_variant ESAD-UK 3 169510846 169510846 single base substitution C A downstream_gene_variant ESAD-UK 3 169512005 169512005 single base substitution A C downstream_gene_variant ESCA-CN 3 169500375 169500375 single base substitution G A 3_prime_UTR_variant ESCA-CN 3 169500375 169500375 single base substitution G A exon_variant ESCA-CN 3 169500375 169500375 single base substitution G A missense_variant C448Y 1343G>A ESCA-CN 3 169511466 169511466 single base substitution G C downstream_gene_variant GACA-CN 3 169485888 169485888 single base substitution C T upstream_gene_variant GBM-US 3 169487253 169487253 single base substitution G A upstream_gene_variant KIRC-US 3 169492076 169492076 single base substitution A G 5_prime_UTR_variant KIRC-US 3 169496863 169496863 deletion of <=200bp G - 3_prime_UTR_variant KIRC-US 3 169496863 169496863 deletion of <=200bp G - frameshift_variant G192 KIRC-US 3 169496863 169496863 deletion of <=200bp G - upstream_gene_variant KIRC-US 3 169496987 169496987 single base substitution C T 3_prime_UTR_variant KIRC-US 3 169496987 169496987 single base substitution C T missense_variant S233L 698C>T KIRC-US 3 169496987 169496987 single base substitution C T upstream_gene_variant KIRC-US 3 169502437 169502437 single base substitution G T 3_prime_UTR_variant KIRC-US 3 169502437 169502437 single base substitution G T downstream_gene_variant KIRC-US 3 169502437 169502437 single base substitution G T intron_variant KIRC-US 3 169502437 169502437 single base substitution G T missense_variant C504F 1511G>T KIRC-US 3 169504386 169504386 single base substitution C G 3_prime_UTR_variant KIRC-US 3 169504386 169504386 single base substitution C G downstream_gene_variant KIRC-US 3 169504386 169504386 single base substitution C G missense_variant P556A 1666C>G KIRC-US 3 169504386 169504386 single base substitution C G missense_variant P585A 1753C>G KIRP-US 3 169496621 169496621 single base substitution G A intron_variant KIRP-US 3 169496621 169496621 single base substitution G A missense_variant C111Y 332G>A KIRP-US 3 169496621 169496621 single base substitution G A upstream_gene_variant LGG-US 3 169487113 169487113 single base substitution T C upstream_gene_variant LICA-FR 3 169485840 169485840 single base substitution C T upstream_gene_variant LICA-FR 3 169486668 169486668 single base substitution G T upstream_gene_variant LICA-FR 3 169490105 169490106 deletion of <=200bp TT - upstream_gene_variant LICA-FR 3 169490105 169490107 deletion of <=200bp TTT - upstream_gene_variant LICA-FR 3 169498433 169498433 single base substitution G A 3_prime_UTR_variant LICA-FR 3 169498433 169498433 single base substitution G A exon_variant LICA-FR 3 169498433 169498433 single base substitution G A synonymous_variant Q372Q 1116G>A LICA-FR 3 169502428 169502428 single base substitution G A 3_prime_UTR_variant LICA-FR 3 169502428 169502428 single base substitution G A downstream_gene_variant LICA-FR 3 169502428 169502428 single base substitution G A intron_variant LICA-FR 3 169502428 169502428 single base substitution G A missense_variant C501Y 1502G>A LICA-FR 3 169506650 169506650 single base substitution A G 3_prime_UTR_variant LICA-FR 3 169506650 169506650 single base substitution A G downstream_gene_variant LICA-FR 3 169507241 169507241 single base substitution A T 3_prime_UTR_variant LICA-FR 3 169507241 169507241 single base substitution A T downstream_gene_variant LIHC-US 3 169504351 169504351 single base substitution A G 3_prime_UTR_variant LIHC-US 3 169504351 169504351 single base substitution A G downstream_gene_variant LIHC-US 3 169504351 169504351 single base substitution A G missense_variant H544R 1631A>G LIHC-US 3 169504351 169504351 single base substitution A G missense_variant H573R 1718A>G LINC-JP 3 169485662 169485662 single base substitution A G upstream_gene_variant LINC-JP 3 169485842 169485842 single base substitution T A upstream_gene_variant LINC-JP 3 169487366 169487366 single base substitution G A upstream_gene_variant LINC-JP 3 169493394 169493394 single base substitution A G intron_variant LINC-JP 3 169493394 169493394 single base substitution A G upstream_gene_variant LINC-JP 3 169493411 169493411 single base substitution C A intron_variant LINC-JP 3 169493411 169493411 single base substitution C A upstream_gene_variant LINC-JP 3 169500301 169500301 single base substitution A G 3_prime_UTR_variant LINC-JP 3 169500301 169500301 single base substitution A G exon_variant LINC-JP 3 169500301 169500301 single base substitution A G synonymous_variant R423R 1269A>G LINC-JP 3 169501206 169501206 single base substitution A G intron_variant LINC-JP 3 169504182 169504182 deletion of <=200bp T - downstream_gene_variant LINC-JP 3 169504182 169504182 deletion of <=200bp T - intron_variant LIRI-JP 3 169489603 169489603 single base substitution T G upstream_gene_variant LIRI-JP 3 169489614 169489614 single base substitution T G upstream_gene_variant LIRI-JP 3 169489726 169489726 single base substitution A G upstream_gene_variant LIRI-JP 3 169489812 169489812 single base substitution C T upstream_gene_variant LIRI-JP 3 169490047 169490047 single base substitution G A upstream_gene_variant LIRI-JP 3 169490085 169490085 single base substitution G A upstream_gene_variant LIRI-JP 3 169490724 169490724 single base substitution C A 5_prime_UTR_variant LIRI-JP 3 169490724 169490724 single base substitution C A upstream_gene_variant LIRI-JP 3 169491156 169491156 single base substitution G T 5_prime_UTR_variant LIRI-JP 3 169491156 169491156 single base substitution G T upstream_gene_variant LIRI-JP 3 169491219 169491219 single base substitution A G 5_prime_UTR_variant LIRI-JP 3 169491219 169491219 single base substitution A G upstream_gene_variant LIRI-JP 3 169491558 169491558 single base substitution C T intron_variant LIRI-JP 3 169491558 169491558 single base substitution C T upstream_gene_variant LIRI-JP 3 169494596 169494596 single base substitution A G intron_variant LIRI-JP 3 169494596 169494596 single base substitution A G upstream_gene_variant LIRI-JP 3 169496935 169496935 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 169496935 169496935 single base substitution A G missense_variant N216D 646A>G LIRI-JP 3 169496935 169496935 single base substitution A G upstream_gene_variant LIRI-JP 3 169497452 169497452 single base substitution A G intron_variant LIRI-JP 3 169500641 169500641 single base substitution A G intron_variant LIRI-JP 3 169501275 169501275 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 169501275 169501275 single base substitution A G exon_variant LIRI-JP 3 169501275 169501275 single base substitution A G synonymous_variant P470P 1410A>G LIRI-JP 3 169502613 169502613 single base substitution A G downstream_gene_variant LIRI-JP 3 169502613 169502613 single base substitution A G intron_variant LIRI-JP 3 169503561 169503561 single base substitution A G downstream_gene_variant LIRI-JP 3 169503561 169503561 single base substitution A G intron_variant LIRI-JP 3 169504522 169504522 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 169504522 169504522 single base substitution A C downstream_gene_variant LIRI-JP 3 169506687 169506687 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 169506687 169506687 single base substitution T C downstream_gene_variant LIRI-JP 3 169508270 169508270 single base substitution G A downstream_gene_variant LIRI-JP 3 169509405 169509405 single base substitution G C downstream_gene_variant LUSC-KR 3 169487261 169487261 single base substitution C G upstream_gene_variant LUSC-KR 3 169489524 169489524 single base substitution G A upstream_gene_variant LUSC-KR 3 169493523 169493523 single base substitution G A intron_variant LUSC-KR 3 169493523 169493523 single base substitution G A upstream_gene_variant LUSC-KR 3 169499836 169499836 single base substitution G C intron_variant LUSC-KR 3 169506220 169506220 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 169506220 169506220 single base substitution G A downstream_gene_variant LUSC-KR 3 169509329 169509329 single base substitution G A downstream_gene_variant LUSC-KR 3 169512107 169512107 single base substitution C A downstream_gene_variant LUSC-US 3 169487114 169487114 single base substitution G T upstream_gene_variant LUSC-US 3 169492342 169492342 single base substitution C A exon_variant LUSC-US 3 169492342 169492342 single base substitution C A missense_variant L87I 259C>A LUSC-US 3 169492342 169492342 single base substitution C A upstream_gene_variant LUSC-US 3 169501281 169501281 single base substitution A T 3_prime_UTR_variant LUSC-US 3 169501281 169501281 single base substitution A T exon_variant LUSC-US 3 169501281 169501281 single base substitution A T synonymous_variant I472I 1416A>T LUSC-US 3 169501285 169501285 single base substitution G T 3_prime_UTR_variant LUSC-US 3 169501285 169501285 single base substitution G T exon_variant LUSC-US 3 169501285 169501285 single base substitution G T missense_variant G474C 1420G>T MALY-DE 3 169491523 169491523 single base substitution T C intron_variant MALY-DE 3 169491523 169491523 single base substitution T C upstream_gene_variant MALY-DE 3 169491693 169491693 single base substitution C G intron_variant MALY-DE 3 169491693 169491693 single base substitution C G upstream_gene_variant MALY-DE 3 169494336 169494336 single base substitution T A intron_variant MALY-DE 3 169494336 169494336 single base substitution T A upstream_gene_variant MALY-DE 3 169494553 169494553 single base substitution G A intron_variant MALY-DE 3 169494553 169494553 single base substitution G A upstream_gene_variant MALY-DE 3 169495269 169495270 deletion of <=200bp GT - intron_variant MALY-DE 3 169495269 169495270 deletion of <=200bp GT - upstream_gene_variant MALY-DE 3 169498008 169498008 single base substitution G A intron_variant MALY-DE 3 169500175 169500175 single base substitution T G intron_variant MALY-DE 3 169505684 169505684 single base substitution A T 3_prime_UTR_variant MALY-DE 3 169505684 169505684 single base substitution A T downstream_gene_variant MALY-DE 3 169508723 169508723 single base substitution A C downstream_gene_variant MELA-AU 3 169486146 169486146 single base substitution G A upstream_gene_variant MELA-AU 3 169486245 169486245 single base substitution G C upstream_gene_variant MELA-AU 3 169486751 169486751 single base substitution C G upstream_gene_variant MELA-AU 3 169486863 169486863 single base substitution G T upstream_gene_variant MELA-AU 3 169489225 169489225 single base substitution A G upstream_gene_variant MELA-AU 3 169489281 169489281 single base substitution G A upstream_gene_variant MELA-AU 3 169489985 169489985 deletion of <=200bp T - upstream_gene_variant MELA-AU 3 169490022 169490023 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 169490085 169490085 single base substitution G A upstream_gene_variant MELA-AU 3 169490102 169490102 single base substitution C T upstream_gene_variant MELA-AU 3 169490198 169490198 single base substitution G A upstream_gene_variant MELA-AU 3 169490961 169490961 single base substitution C A 5_prime_UTR_variant MELA-AU 3 169490961 169490961 single base substitution C A upstream_gene_variant MELA-AU 3 169491196 169491196 single base substitution C T 5_prime_UTR_variant MELA-AU 3 169491196 169491196 single base substitution C T upstream_gene_variant MELA-AU 3 169491207 169491207 single base substitution G A 5_prime_UTR_variant MELA-AU 3 169491207 169491207 single base substitution G A upstream_gene_variant MELA-AU 3 169491454 169491455 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 169491454 169491455 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 169491834 169491835 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 3 169491834 169491835 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 169491834 169491835 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 169492736 169492736 single base substitution C G intron_variant MELA-AU 3 169492736 169492736 single base substitution C G upstream_gene_variant MELA-AU 3 169493880 169493880 single base substitution C T intron_variant MELA-AU 3 169493880 169493880 single base substitution C T upstream_gene_variant MELA-AU 3 169495636 169495636 single base substitution G C intron_variant MELA-AU 3 169495636 169495636 single base substitution G C upstream_gene_variant MELA-AU 3 169497727 169497727 single base substitution A C intron_variant MELA-AU 3 169497840 169497840 single base substitution C T intron_variant MELA-AU 3 169499178 169499178 single base substitution A T intron_variant MELA-AU 3 169499418 169499418 single base substitution G A intron_variant MELA-AU 3 169500024 169500024 single base substitution C T intron_variant MELA-AU 3 169501051 169501051 single base substitution G T intron_variant MELA-AU 3 169501134 169501134 single base substitution C T intron_variant MELA-AU 3 169502253 169502253 single base substitution C T downstream_gene_variant MELA-AU 3 169502253 169502253 single base substitution C T intron_variant MELA-AU 3 169502649 169502649 single base substitution G A downstream_gene_variant MELA-AU 3 169502649 169502649 single base substitution G A intron_variant MELA-AU 3 169503260 169503260 single base substitution A T downstream_gene_variant MELA-AU 3 169503260 169503260 single base substitution A T intron_variant MELA-AU 3 169504203 169504204 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 169504203 169504204 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G495D 1484G>A MELA-AU 3 169504203 169504204 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G524D 1571G>A MELA-AU 3 169504203 169504204 multiple base substitution (>=2bp and <=200bp) GG AA splice_acceptor_variant MELA-AU 3 169504353 169504353 single base substitution C T 3_prime_UTR_variant MELA-AU 3 169504353 169504353 single base substitution C T downstream_gene_variant MELA-AU 3 169504353 169504353 single base substitution C T missense_variant H545Y 1633C>T MELA-AU 3 169504353 169504353 single base substitution C T missense_variant H574Y 1720C>T MELA-AU 3 169504473 169504473 single base substitution A G 3_prime_UTR_variant MELA-AU 3 169504473 169504473 single base substitution A G downstream_gene_variant MELA-AU 3 169504738 169504738 single base substitution C T 3_prime_UTR_variant MELA-AU 3 169504738 169504738 single base substitution C T downstream_gene_variant MELA-AU 3 169505200 169505200 single base substitution C T 3_prime_UTR_variant MELA-AU 3 169505200 169505200 single base substitution C T downstream_gene_variant MELA-AU 3 169505717 169505717 single base substitution T C 3_prime_UTR_variant MELA-AU 3 169505717 169505717 single base substitution T C downstream_gene_variant MELA-AU 3 169506925 169506925 single base substitution A T 3_prime_UTR_variant MELA-AU 3 169506925 169506925 single base substitution A T downstream_gene_variant MELA-AU 3 169507165 169507165 single base substitution T C 3_prime_UTR_variant MELA-AU 3 169507165 169507165 single base substitution T C downstream_gene_variant MELA-AU 3 169507645 169507645 single base substitution C T downstream_gene_variant MELA-AU 3 169507665 169507665 single base substitution T A downstream_gene_variant MELA-AU 3 169508272 169508272 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 169510109 169510109 single base substitution T G downstream_gene_variant MELA-AU 3 169510325 169510325 single base substitution G C downstream_gene_variant MELA-AU 3 169511204 169511204 single base substitution G A downstream_gene_variant ORCA-IN 3 169489882 169489882 single base substitution C T upstream_gene_variant OV-AU 3 169487220 169487220 single base substitution A T upstream_gene_variant OV-AU 3 169488244 169488244 single base substitution C T upstream_gene_variant OV-AU 3 169488248 169488248 single base substitution A T upstream_gene_variant OV-AU 3 169488249 169488249 single base substitution A G upstream_gene_variant OV-AU 3 169490994 169490994 single base substitution C G 5_prime_UTR_variant OV-AU 3 169490994 169490994 single base substitution C G upstream_gene_variant OV-AU 3 169492034 169492034 single base substitution G C intron_variant OV-AU 3 169492034 169492034 single base substitution G C upstream_gene_variant OV-AU 3 169494482 169494482 single base substitution A T intron_variant OV-AU 3 169494482 169494482 single base substitution A T upstream_gene_variant OV-AU 3 169495016 169495016 single base substitution A G intron_variant OV-AU 3 169495016 169495016 single base substitution A G upstream_gene_variant OV-AU 3 169496644 169496644 single base substitution G A intron_variant OV-AU 3 169496644 169496644 single base substitution G A missense_variant A119T 355G>A OV-AU 3 169496644 169496644 single base substitution G A upstream_gene_variant OV-AU 3 169498439 169498439 single base substitution C G 3_prime_UTR_variant OV-AU 3 169498439 169498439 single base substitution C G exon_variant OV-AU 3 169498439 169498439 single base substitution C G synonymous_variant V374V 1122C>G OV-AU 3 169499476 169499476 single base substitution G C intron_variant OV-AU 3 169510157 169510157 single base substitution C T downstream_gene_variant OV-AU 3 169512371 169512371 single base substitution T G downstream_gene_variant PACA-AU 3 169485753 169485753 single base substitution C A upstream_gene_variant PACA-AU 3 169487774 169487774 single base substitution G C upstream_gene_variant PACA-AU 3 169488244 169488244 single base substitution C T upstream_gene_variant PACA-AU 3 169490006 169490006 single base substitution C T upstream_gene_variant PACA-AU 3 169491135 169491135 single base substitution G A 5_prime_UTR_variant PACA-AU 3 169491135 169491135 single base substitution G A upstream_gene_variant PACA-AU 3 169493629 169493629 single base substitution G T intron_variant PACA-AU 3 169493629 169493629 single base substitution G T upstream_gene_variant PACA-AU 3 169498068 169498068 single base substitution G T intron_variant PACA-CA 3 169488428 169488428 single base substitution A C upstream_gene_variant PACA-CA 3 169491559 169491559 single base substitution A G intron_variant PACA-CA 3 169491559 169491559 single base substitution A G upstream_gene_variant PACA-CA 3 169491576 169491576 single base substitution C T intron_variant PACA-CA 3 169491576 169491576 single base substitution C T upstream_gene_variant PACA-CA 3 169500899 169500899 insertion of <=200bp - T intron_variant PACA-CA 3 169501231 169501231 single base substitution T C intron_variant PACA-CA 3 169501261 169501261 single base substitution C G splice_region_variant PACA-CA 3 169504349 169504349 insertion of <=200bp - CAT 3_prime_UTR_variant PACA-CA 3 169504349 169504349 insertion of <=200bp - CAT downstream_gene_variant PACA-CA 3 169504349 169504349 insertion of <=200bp - CAT inframe_insertion D543DI PACA-CA 3 169504349 169504349 insertion of <=200bp - CAT inframe_insertion D572DI PACA-CA 3 169504380 169504380 single base substitution C T 3_prime_UTR_variant PACA-CA 3 169504380 169504380 single base substitution C T downstream_gene_variant PACA-CA 3 169504380 169504380 single base substitution C T stop_gained Q554* 1660C>T PACA-CA 3 169504380 169504380 single base substitution C T stop_gained Q583* 1747C>T PACA-CA 3 169505764 169505764 single base substitution C T 3_prime_UTR_variant PACA-CA 3 169505764 169505764 single base substitution C T downstream_gene_variant PACA-CA 3 169507558 169507558 single base substitution C T downstream_gene_variant PACA-CA 3 169512428 169512428 single base substitution T A downstream_gene_variant PBCA-DE 3 169488190 169488191 deletion of <=200bp TT - upstream_gene_variant PBCA-DE 3 169488205 169488206 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 3 169490005 169490005 single base substitution T C upstream_gene_variant PBCA-DE 3 169499960 169499960 single base substitution C T intron_variant PBCA-DE 3 169500272 169500272 single base substitution C T 3_prime_UTR_variant PBCA-DE 3 169500272 169500272 single base substitution C T exon_variant PBCA-DE 3 169500272 169500272 single base substitution C T missense_variant P414S 1240C>T PRAD-UK 3 169495654 169495654 insertion of <=200bp - T intron_variant PRAD-UK 3 169495654 169495654 insertion of <=200bp - T upstream_gene_variant PRAD-UK 3 169509014 169509014 single base substitution C G downstream_gene_variant PRAD-UK 3 169510742 169510759 deletion of <=200bp AATGAATCATACTAATAT - downstream_gene_variant PRAD-US 3 169486066 169486066 single base substitution A G upstream_gene_variant PRAD-US 3 169497118 169497118 single base substitution A G 3_prime_UTR_variant PRAD-US 3 169497118 169497118 single base substitution A G exon_variant PRAD-US 3 169497118 169497118 single base substitution A G missense_variant I277V 829A>G READ-US 3 169492094 169492094 single base substitution C T exon_variant READ-US 3 169492094 169492094 single base substitution C T missense_variant S4L 11C>T READ-US 3 169492094 169492094 single base substitution C T upstream_gene_variant READ-US 3 169496569 169496569 single base substitution G T intron_variant READ-US 3 169496569 169496569 single base substitution G T stop_gained E94* 280G>T READ-US 3 169496569 169496569 single base substitution G T upstream_gene_variant READ-US 3 169496746 169496746 single base substitution C T 3_prime_UTR_variant READ-US 3 169496746 169496746 single base substitution C T stop_gained R153* 457C>T READ-US 3 169496746 169496746 single base substitution C T upstream_gene_variant READ-US 3 169497266 169497266 single base substitution G A 3_prime_UTR_variant READ-US 3 169497266 169497266 single base substitution G A exon_variant READ-US 3 169497266 169497266 single base substitution G A missense_variant G326E 977G>A RECA-EU 3 169505763 169505763 single base substitution T C 3_prime_UTR_variant RECA-EU 3 169505763 169505763 single base substitution T C downstream_gene_variant RECA-EU 3 169510412 169510412 single base substitution T C downstream_gene_variant RECA-EU 3 169511419 169511419 single base substitution T C downstream_gene_variant SKCA-BR 3 169488718 169488718 insertion of <=200bp - AATAT upstream_gene_variant SKCA-BR 3 169489217 169489248 deletion of <=200bp TTGTTTATATATAATAAATATATAAAAATTTA - upstream_gene_variant SKCA-BR 3 169490053 169490053 single base substitution C T upstream_gene_variant SKCA-BR 3 169490085 169490085 single base substitution G A upstream_gene_variant SKCA-BR 3 169490125 169490126 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 3 169490126 169490126 single base substitution C T upstream_gene_variant SKCA-BR 3 169502858 169502858 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 3 169502858 169502858 insertion of <=200bp - AG intron_variant SKCA-BR 3 169509100 169509100 single base substitution T A downstream_gene_variant SKCM-US 3 169485798 169485798 single base substitution C T upstream_gene_variant SKCM-US 3 169485997 169485997 single base substitution G A upstream_gene_variant SKCM-US 3 169492152 169492152 single base substitution C T exon_variant SKCM-US 3 169492152 169492152 single base substitution C T synonymous_variant L23L 69C>T SKCM-US 3 169492152 169492152 single base substitution C T upstream_gene_variant SKCM-US 3 169496554 169496554 single base substitution A T intron_variant SKCM-US 3 169496554 169496554 single base substitution A T splice_acceptor_variant SKCM-US 3 169496554 169496554 single base substitution A T upstream_gene_variant SKCM-US 3 169496853 169496853 single base substitution C T 3_prime_UTR_variant SKCM-US 3 169496853 169496853 single base substitution C T synonymous_variant S188S 564C>T SKCM-US 3 169496853 169496853 single base substitution C T upstream_gene_variant SKCM-US 3 169497049 169497049 single base substitution G T 3_prime_UTR_variant SKCM-US 3 169497049 169497049 single base substitution G T missense_variant V254F 760G>T SKCM-US 3 169497049 169497049 single base substitution G T upstream_gene_variant SKCM-US 3 169497339 169497339 single base substitution A T 3_prime_UTR_variant SKCM-US 3 169497339 169497339 single base substitution A T exon_variant SKCM-US 3 169497339 169497339 single base substitution A T missense_variant R350S 1050A>T SKCM-US 3 169511529 169511529 single base substitution G A downstream_gene_variant STAD-US 3 169486125 169486125 single base substitution G A upstream_gene_variant STAD-US 3 169492087 169492087 single base substitution C T exon_variant STAD-US 3 169492087 169492087 single base substitution C T stop_gained Q2* 4C>T STAD-US 3 169492087 169492087 single base substitution C T upstream_gene_variant STAD-US 3 169492270 169492270 single base substitution C G exon_variant STAD-US 3 169492270 169492270 single base substitution C G missense_variant L63V 187C>G STAD-US 3 169492270 169492270 single base substitution C G upstream_gene_variant STAD-US 3 169496751 169496751 single base substitution G T 3_prime_UTR_variant STAD-US 3 169496751 169496751 single base substitution G T missense_variant E154D 462G>T STAD-US 3 169496751 169496751 single base substitution G T upstream_gene_variant STAD-US 3 169497203 169497203 single base substitution A G 3_prime_UTR_variant STAD-US 3 169497203 169497203 single base substitution A G exon_variant STAD-US 3 169497203 169497203 single base substitution A G missense_variant N305S 914A>G STAD-US 3 169497257 169497257 single base substitution T A 3_prime_UTR_variant STAD-US 3 169497257 169497257 single base substitution T A exon_variant STAD-US 3 169497257 169497257 single base substitution T A missense_variant I323K 968T>A STAD-US 3 169497261 169497261 single base substitution T C 3_prime_UTR_variant STAD-US 3 169497261 169497261 single base substitution T C exon_variant STAD-US 3 169497261 169497261 single base substitution T C synonymous_variant H324H 972T>C STAD-US 3 169504444 169504444 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 3 169504444 169504444 deletion of <=200bp T - downstream_gene_variant STAD-US 3 169504444 169504444 deletion of <=200bp T - frameshift_variant I575 STAD-US 3 169504444 169504444 deletion of <=200bp T - frameshift_variant I604 THCA-SA 3 169487437 169487437 single base substitution G A upstream_gene_variant THCA-SA 3 169492101 169492101 single base substitution C T exon_variant THCA-SA 3 169492101 169492101 single base substitution C T synonymous_variant H6H 18C>T THCA-SA 3 169492101 169492101 single base substitution C T upstream_gene_variant UCEC-US 3 169485701 169485701 single base substitution T G upstream_gene_variant UCEC-US 3 169496751 169496751 single base substitution G T 3_prime_UTR_variant UCEC-US 3 169496751 169496751 single base substitution G T missense_variant E154D 462G>T UCEC-US 3 169496751 169496751 single base substitution G T upstream_gene_variant UCEC-US 3 169496757 169496757 single base substitution A G 3_prime_UTR_variant UCEC-US 3 169496757 169496757 single base substitution A G synonymous_variant S156S 468A>G UCEC-US 3 169496757 169496757 single base substitution A G upstream_gene_variant UCEC-US 3 169496818 169496818 single base substitution T C 3_prime_UTR_variant UCEC-US 3 169496818 169496818 single base substitution T C missense_variant S177P 529T>C UCEC-US 3 169496818 169496818 single base substitution T C upstream_gene_variant UCEC-US 3 169497147 169497147 single base substitution G A 3_prime_UTR_variant UCEC-US 3 169497147 169497147 single base substitution G A exon_variant UCEC-US 3 169497147 169497147 single base substitution G A synonymous_variant A286A 858G>A UCEC-US 3 169497265 169497265 single base substitution G T 3_prime_UTR_variant UCEC-US 3 169497265 169497265 single base substitution G T exon_variant UCEC-US 3 169497265 169497265 single base substitution G T stop_gained G326* 976G>T UCEC-US 3 169498450 169498450 single base substitution G A 3_prime_UTR_variant UCEC-US 3 169498450 169498450 single base substitution G A exon_variant UCEC-US 3 169498450 169498450 single base substitution G A missense_variant R378H 1133G>A UCEC-US 3 169501296 169501296 single base substitution G C 3_prime_UTR_variant UCEC-US 3 169501296 169501296 single base substitution G C exon_variant UCEC-US 3 169501296 169501296 single base substitution G C synonymous_variant G477G 1431G>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 234 COSM3731394 c.67_80del14 p.L23fs*9 Deletion - Frameshift 3:169774362-169774375 + HN_62646 COSM124621 c.1712A>T p.E571V Substitution - Missense 3:169786557-169786557 + TCGA-B5-A11E-01 COSM1040981 c.468A>G p.S156S Substitution - coding silent 3:169778969-169778969 + TCGA-AC-A23H-01 COSM3846700 c.1453G>C p.E485Q Substitution - Missense 3:169783530-169783530 + ESCC_170 COSM5649485 c.1711G>C p.E571Q Substitution - Missense 3:169786556-169786556 + ESCC_100 COSM5637895 c.370C>G p.P124A Substitution - Missense 3:169778871-169778871 + I2L-P19Tb-Tumor-Organoid COSM5355316 c.1249T>G p.C417G Substitution - Missense 3:169782493-169782493 + TCGA-DD-A1EA-01 COSM4920085 c.1718A>G p.H573R Substitution - Missense 3:169786563-169786563 + MO_1012 COSM1420500 c.1811delT p.L606fs*>5 Deletion - Frameshift 3:169786656-169786656 + TCGA-EK-A2R8-01 COSM4822518 c.306C>G p.L102L Substitution - coding silent 3:169778807-169778807 + PD13422a COSM5799166 c.1613T>G p.L538W Substitution - Missense 3:169786458-169786458 + TCGA-B5-A11E-01 COSM1040983 c.858G>A p.A286A Substitution - coding silent 3:169779359-169779359 + TCGA-F5-6814-01 COSM3427308 c.977G>A p.G326E Substitution - Missense 3:169779478-169779478 + TCGA-AM-5820-01 COSM3695910 c.512C>T p.A171V Substitution - Missense 3:169779013-169779013 + PD4137a COSM162736 c.768G>A p.V256V Substitution - coding silent 3:169779269-169779269 + SNU-C2B COSM3203825 c.1681A>G p.T561A Substitution - Missense 3:169786526-169786526 + TCGA-A8-A099-01 COSM445925 c.190G>T p.D64Y Substitution - Missense 3:169774485-169774485 + ZZUFHECRKL-G054T COSM5445435 c.1343G>A p.C448Y Substitution - Missense 3:169782587-169782587 + TCGA-BP-5001-01 COSM479694 c.1511G>T p.C504F Substitution - Missense 3:169784649-169784649 + TCGA-B5-A11Y-01 COSM1040985 c.1133G>A p.R378H Substitution - Missense 3:169780662-169780662 + T578 COSM4704749 c.452A>C p.N151T Substitution - Missense 3:169778953-169778953 + SK-MEL-2 COSM1670688 c.1668G>T p.K556N Substitution - Missense 3:169786513-169786513 + TCGA-IR-A3LH-01 COSM4832785 c.69C>G p.L23L Substitution - coding silent 3:169774364-169774364 + TCGA-D8-A1XK-01 COSM3846698 c.1395T>A p.H465Q Substitution - Missense 3:169782639-169782639 + DN1201B COSM5962988 c.944G>T p.S315I Substitution - Missense 3:169779445-169779445 + SH-6055 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + TCGA-MH-A55W-01 COSM3992853 c.332G>A p.C111Y Substitution - Missense 3:169778833-169778833 + YUKAT COSM5398621 c.982A>G p.K328E Substitution - Missense 3:169779483-169779483 + TCGA-A8-A09Z-01 COSM3846699 c.1446C>A p.S482S Substitution - coding silent 3:169783523-169783523 + PD8965a COSM5785754 c.298G>T p.D100Y Substitution - Missense 3:169778799-169778799 + TCGA-AA-A00N-01 COSM276221 c.349G>T p.D117Y Substitution - Missense 3:169778850-169778850 + TCGA-BR-8680-01 COSM1040980 c.462G>T p.E154D Substitution - Missense 3:169778963-169778963 + CoCM-1 COSM4621149 c.379A>G p.T127A Substitution - Missense 3:169778880-169778880 + I2L-P19Tb-Tumor-Organoid COSM5355363 c.754C>T p.H252Y Substitution - Missense 3:169779255-169779255 + 079T COSM1730754 c.1175G>T p.C392F Substitution - Missense 3:169780704-169780704 + RK163_C01 COSM3767151 c.646A>G p.N216D Substitution - Missense 3:169779147-169779147 + TCGA-FS-A1ZQ-06 COSM3589934 c.564C>T p.S188S Substitution - coding silent 3:169779065-169779065 + CHC892T COSM4795294 c.1116G>A p.Q372Q Substitution - coding silent 3:169780645-169780645 + TCGA-39-5027-01 COSM729186 c.1416A>T p.I472I Substitution - coding silent 3:169783493-169783493 + BN17 COSM1617184 c.1269A>G p.R423R Substitution - coding silent 3:169782513-169782513 + BD72T COSM5511964 c.1041G>A p.T347T Substitution - coding silent 3:169779542-169779542 + TCGA-EI-6917-01 COSM3427305 c.11C>T p.S4L Substitution - Missense 3:169774306-169774306 + T276 COSM4704753 c.1634delA p.S547fs*9 Deletion - Frameshift 3:169786479-169786479 + 24T COSM106304 c.1441A>T p.I481F Substitution - Missense 3:169783518-169783518 + TCGA-AZ-4315-01 COSM1420499 c.1547A>C p.K516T Substitution - Missense 3:169784685-169784685 + TCGA-F4-6570-01 COSM1420498 c.1281C>A p.A427A Substitution - coding silent 3:169782525-169782525 + PT23_2 COSM5903473 c.1624G>A p.D542N Substitution - Missense 3:169786469-169786469 + TCGA-A5-A0GP-01 COSM1040980 c.462G>T p.E154D Substitution - Missense 3:169778963-169778963 + S12-23181-TP COSM4991876 c.27C>T p.H9H Substitution - coding silent 3:169774322-169774322 + TCGA-AM-5820-01 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + LUAD-YINHD COSM350793 c.563C>A p.S188Y Substitution - Missense 3:169779064-169779064 + TCGA-BR-4361-01 COSM4115119 c.4C>T p.Q2* Substitution - Nonsense 3:169774299-169774299 + pfg212T COSM4763490 c.1351G>A p.A451T Substitution - Missense 3:169782595-169782595 + BN17T COSM1617184 c.1269A>G p.R423R Substitution - coding silent 3:169782513-169782513 + TCGA-CH-5765-01 COSM1130294 c.829A>G p.I277V Substitution - Missense 3:169779330-169779330 + TCGA-B5-A11E-01 COSM1040984 c.976G>T p.G326* Substitution - Nonsense 3:169779477-169779477 + TCGA-F5-6814-01 COSM3427306 c.280G>T p.E94* Substitution - Nonsense 3:169778781-169778781 + TCGA-37-4141-01 COSM729188 c.259C>A p.L87I Substitution - Missense 3:169774554-169774554 + SH-2871 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + S02209 COSM5675333 c.1658T>C p.M553T Substitution - Missense 3:169786503-169786503 + sysucc-834T COSM5486331 c.510C>T p.G170G Substitution - coding silent 3:169779011-169779011 + LUAD_E00522 COSM353188 c.265A>C p.S89R Substitution - Missense 3:169774560-169774560 + I2L-P19Tb-Tumor-Biopsy COSM5355363 c.754C>T p.H252Y Substitution - Missense 3:169779255-169779255 + TCGA-BR-6452-01 COSM4115121 c.914A>G p.N305S Substitution - Missense 3:169779415-169779415 + PCSI_0590_Pa_P_526 COSM5760834 c.1716_1717insCAT p.H574_M575insH Insertion - In frame 3:169786561-169786562 + ESCC_123 COSM5640921 c.778C>T p.R260C Substitution - Missense 3:169779279-169779279 + SH-3776 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + TCGA-BP-4964-01 COSM479693 c.698C>T p.S233L Substitution - Missense 3:169779199-169779199 + LUAD-S01467 COSM399488 c.550_551AA>GC p.K184>? Complex 3:169779051-169779052 + TCGA-AM-5821-01 COSM3695911 c.1365T>C p.S455S Substitution - coding silent 3:169782609-169782609 + TCGA-EI-6917-01 COSM3427307 c.457C>T p.R153* Substitution - Nonsense 3:169778958-169778958 + SH-1439 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + BD124T COSM5491734 c.184delT p.D64fs*5 Deletion - Frameshift 3:169774479-169774479 + PTC-7C COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + TCGA-CJ-4644-01 COSM1136975 c.388T>C p.S130P Substitution - Missense 3:169778889-169778889 + RK057_C01 COSM3702359 c.1410A>G p.P470P Substitution - coding silent 3:169783487-169783487 + TCGA-BR-7703-01 COSM4115123 c.972T>C p.H324H Substitution - coding silent 3:169779473-169779473 + TCGA-FD-A3B7-01 COSM1308803 c.1543A>T p.K515* Substitution - Nonsense 3:169784681-169784681 + SH-102782 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + TCGA-EE-A181-06 COSM3589932 c.69C>T p.L23L Substitution - coding silent 3:169774364-169774364 + TCGA-A8-A0A6-01 COSM3846697 c.1258T>G p.C420G Substitution - Missense 3:169782502-169782502 + TCGA-ER-A19Q-06 COSM3589935 c.760G>T p.V254F Substitution - Missense 3:169779261-169779261 + TCGA-BP-4982-01 COSM1495403 c.1509A>C p.L503F Substitution - Missense 3:169784647-169784647 + HCT8 COSM4634935 c.259C>T p.L87F Substitution - Missense 3:169774554-169774554 + CHC892T COSM4795294 c.1116G>A p.Q372Q Substitution - coding silent 3:169780645-169780645 + TCGA-66-2795-01 COSM729185 c.1420G>T p.G474C Substitution - Missense 3:169783497-169783497 + SH-7282 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + TCGA-AG-3592-01 COSM5066737 c.1443T>G p.I481M Substitution - Missense 3:169783520-169783520 + LUAD-NYU1021 COSM368163 c.1262G>T p.G421V Substitution - Missense 3:169782506-169782506 + TCGA-AN-A04D-01 COSM445926 c.1324C>T p.P442S Substitution - Missense 3:169782568-169782568 + TCGA-BR-4191-01 COSM4115120 c.187C>G p.L63V Substitution - Missense 3:169774482-169774482 + TCGA-GN-A269-01 COSM3589933 c.267-2A>T p.? Unknown 3:169778766-169778766 + TCGA-AG-A002-01 COSM262234 c.481G>T p.D161Y Substitution - Missense 3:169778982-169778982 + I2L-P19Tb-Tumor-Biopsy COSM5355316 c.1249T>G p.C417G Substitution - Missense 3:169782493-169782493 + SH-7329 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + AOCS-146-1-9 COSM4149655 c.355G>A p.A119T Substitution - Missense 3:169778856-169778856 + TCGA-BG-A0YV-01 COSM1040982 c.529T>C p.S177P Substitution - Missense 3:169779030-169779030 + TCGA-CJ-4881-01 COSM3365077 c.1753C>G p.P585A Substitution - Missense 3:169786598-169786598 + TCGA-D3-A2JO-06 COSM3589936 c.1050A>T p.R350S Substitution - Missense 3:169779551-169779551 + HCT15 COSM3203804 c.764C>T p.T255I Substitution - Missense 3:169779265-169779265 + T2197 COSM4704751 c.566C>T p.P189L Substitution - Missense 3:169779067-169779067 + TCGA-E6-A1LZ-01 COSM1040986 c.1431G>C p.G477G Substitution - coding silent 3:169783508-169783508 + TCGA-A6-6653-01 COSM1420500 c.1811delT p.L606fs*>5 Deletion - Frameshift 3:169786656-169786656 + CHC892T COSM4796377 c.1502G>A p.C501Y Substitution - Missense 3:169784640-169784640 + TCGA-C5-A1BN-01 COSM4837162 c.705C>A p.L235L Substitution - coding silent 3:169779206-169779206 + T3262 COSM4704747 c.51G>A p.Q17Q Substitution - coding silent 3:169774346-169774346 + TCGA-A6-6138-01 COSM5090549 c.1456C>T p.L486F Substitution - Missense 3:169783533-169783533 + SH-9161 COSM3759866 c.18C>T p.H6H Substitution - coding silent 3:169774313-169774313 + SNU-C2B COSM1420500 c.1811delT p.L606fs*>5 Deletion - Frameshift 3:169786656-169786656 + TCGA-BR-4201-01 COSM4115122 c.968T>A p.I323K Substitution - Missense 3:169779469-169779469 + TCGA-AM-5821-01 COSM3695910 c.512C>T p.A171V Substitution - Missense 3:169779013-169779013 + PCSI_0609_Pa_P_526 COSM5761517 c.1747C>T p.Q583* Substitution - Nonsense 3:169786592-169786592 + 227_T COSM3945117 c.127G>A p.A43T Substitution - Missense 3:169774422-169774422 + HCC2998 COSM4631722 c.1814T>A p.F605Y Substitution - Missense 3:169786659-169786659 + AOCS-004-1-5 COSM4149656 c.1122C>G p.V374V Substitution - coding silent 3:169780651-169780651 + TCGA-FD-A3SN-01 COSM3774711 c.364G>A p.A122T Substitution - Missense 3:169778865-169778865 + CHC892T COSM4796377 c.1502G>A p.C501Y Substitution - Missense 3:169784640-169784640 + 824_T COSM3945118 c.867C>T p.S289S Substitution - coding silent 3:169779368-169779368 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.507018;Hs.507025 3q26.2 606042 2439739|CGAP|BC033620|C/T|non-coding||2727|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 5-UTRSNV . c.1-865A>G 3 169491219 HC A G Missense p.I277V c.829A>G 3 169497118 PRAD A G Synonymous p.G366G c.1098A>G 3 169498415 LUAD A T Missense p.E571V c.1712A>T 3 169504345 HNSC A T Missense p.R350S c.1050A>T 3 169497339 CM A T Nonsense p.K515* c.1543A>T 3 169502469 BLCA A T SpliceAcceptorSNV . c.267-2A>T 3 169496554 CM A T Synonymous p.I472I c.1416A>T 3 169501281 LUSC C A Missense p.L87I c.259C>A 3 169492342 LUSC C G Missense p.L63V c.187C>G 3 169492270 STAD C G Missense p.P585A c.1753C>G 3 169504386 RCCC C G Synonymous p.V61V c.183C>G 3 169492266 HNSC C T Missense p.P442S c.1324C>T 3 169500356 BRCA C T Missense p.S233L c.698C>T 3 169496987 RCCC C T Synonymous p.L23L c.69C>T 3 169492152 CM C T Synonymous p.S188S c.564C>T 3 169496853 CM G A Missense p.R378H c.1133G>A 3 169498450 UCEC G A Synonymous p.V256V c.768G>A 3 169497057 BRCA G C Missense p.D149H c.445G>C 3 169496734 HNSC G C Missense p.E540Q c.1618G>C 3 169504251 HNSC G C Synonymous p.G477G c.1431G>C 3 169501296 UCEC G - Frameshift p.Q193Rfs*12 c.576delG 3 169496863 RCCC G T 5-UTRSNV . c.1-928G>T 3 169491156 HC G T Missense p.C504F c.1511G>T 3 169502437 RCCC G T Missense p.D64Y c.190G>T 3 169492273 BRCA G T Missense p.E154D c.462G>T 3 169496751 UCEC G T Missense p.G474C c.1420G>T 3 169501285 LUSC G T Missense p.V254F c.760G>T 3 169497049 CM T A Missense p.I323K c.968T>A 3 169497257 STAD T C Missense p.S177P c.529T>C 3 169496818 UCEC T - IntronicDeletion . c.1571-14delT 3 169504182 STAD