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 17 7466472 7466472 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:7466472C>T c.79C>T c.(79-81)Ccc>Tcc p.P27S BLCA 17 7466485 7466485 + Missense_Mutation SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr17:7466485G>A c.92G>A c.(91-93)cGt>cAt p.R31H BLCA 17 7466515 7466515 + Frame_Shift_Del DEL G G - TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr17:7466515delG c.122delG c.(121-123)cgafs p.R41fs BLCA 17 7469082 7469082 + Splice_Site SNP G G T TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr17:7469082G>T c.e6+1 BRCA 17 7468905 7468905 + Splice_Site SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 g.chr17:7468905G>C c.e5+1 CHOL 17 7466484 7466484 + Missense_Mutation SNP C C T TCGA-ZD-A8I3-01A-11D-A417-09 TCGA-ZD-A8I3-10A-01D-A41A-09 g.chr17:7466484C>T c.91C>T c.(91-93)Cgt>Tgt p.R31C COAD 17 7466478 7466478 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:7466478C>T c.85C>T c.(85-87)Cgg>Tgg p.R29W COAD 17 7466956 7466956 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:7466956delC c.563delC c.(562-564)tccfs p.S188fs COAD 17 7468154 7468154 + Nonsense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:7468154C>T c.928C>T c.(928-930)Cga>Tga p.R310* COAD 17 7470305 7470305 + Frame_Shift_Del DEL A A - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:7470305delA c.1324delA c.(1324-1326)aaafs p.K442fs COADREAD 17 7466478 7466478 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:7466478C>T c.85C>T c.(85-87)Cgg>Tgg p.R29W COADREAD 17 7466956 7466956 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:7466956delC c.563delC c.(562-564)tccfs p.S188fs COADREAD 17 7468154 7468154 + Nonsense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:7468154C>T c.928C>T c.(928-930)Cga>Tga p.R310* COADREAD 17 7470305 7470305 + Frame_Shift_Del DEL A A - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:7470305delA c.1324delA c.(1324-1326)aaafs p.K442fs DLBC 17 7474729 7474729 + Silent SNP C C T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr17:7474729C>T c.1653C>T c.(1651-1653)ttC>ttT p.F551F ESCA 17 7468306 7468306 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr17:7468306G>T c.986G>T c.(985-987)gGc>gTc p.G329V GBM 17 7466491 7466491 + Missense_Mutation SNP G G A TCGA-26-6174-01A-21D-1845-08 TCGA-26-6174-10A-01D-1845-08 g.chr17:7466491G>A c.98G>A c.(97-99)cGt>cAt p.R33H GBMLGG 17 7466491 7466491 + Missense_Mutation SNP G G A TCGA-26-6174-01A-21D-1845-08 TCGA-26-6174-10A-01D-1845-08 g.chr17:7466491G>A c.98G>A c.(97-99)cGt>cAt p.R33H GBMLGG 17 7468005 7468005 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:7468005G>T c.779G>T c.(778-780)aGc>aTc p.S260I GBMLGG 17 7474041 7474041 + Nonsense_Mutation SNP C C T TCGA-HT-7610-01A-21D-2086-08 TCGA-HT-7610-10A-01D-2086-08 g.chr17:7474041C>T c.1522C>T c.(1522-1524)Cga>Tga p.R508* HNSC 17 7474754 7474754 + Missense_Mutation SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr17:7474754C>T c.1678C>T c.(1678-1680)Cgt>Tgt p.R560C KIPAN 17 7468055 7468055 + Missense_Mutation SNP G G T TCGA-GL-6846-01A-11D-1961-08 TCGA-GL-6846-10A-01D-1962-08 g.chr17:7468055G>T c.829G>T c.(829-831)Ggg>Tgg p.G277W KIPAN 17 7474732 7474733 + In_Frame_Ins INS - - CAA TCGA-UZ-A9PU-01A-11D-A42J-10 TCGA-UZ-A9PU-10A-01D-A42M-10 g.chr17:7474732_7474733insCAA c.1656_1657insCAA c.(1657-1659)cag>CAAcag p.553_553Q>QQ KIPAN 17 7474735 7474735 + Silent SNP G G A TCGA-UZ-A9PU-01A-11D-A42J-10 TCGA-UZ-A9PU-10A-01D-A42M-10 g.chr17:7474735G>A c.1659G>A c.(1657-1659)caG>caA p.Q553Q KIRP 17 7468055 7468055 + Missense_Mutation SNP G G T TCGA-GL-6846-01A-11D-1961-08 TCGA-GL-6846-10A-01D-1962-08 g.chr17:7468055G>T c.829G>T c.(829-831)Ggg>Tgg p.G277W KIRP 17 7474732 7474733 + In_Frame_Ins INS - - CAA TCGA-UZ-A9PU-01A-11D-A42J-10 TCGA-UZ-A9PU-10A-01D-A42M-10 g.chr17:7474732_7474733insCAA c.1656_1657insCAA c.(1657-1659)cag>CAAcag p.553_553Q>QQ KIRP 17 7474735 7474735 + Silent SNP G G A TCGA-UZ-A9PU-01A-11D-A42J-10 TCGA-UZ-A9PU-10A-01D-A42M-10 g.chr17:7474735G>A c.1659G>A c.(1657-1659)caG>caA p.Q553Q LGG 17 7468005 7468005 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:7468005G>T c.779G>T c.(778-780)aGc>aTc p.S260I LGG 17 7474041 7474041 + Nonsense_Mutation SNP C C T TCGA-HT-7610-01A-21D-2086-08 TCGA-HT-7610-10A-01D-2086-08 g.chr17:7474041C>T c.1522C>T c.(1522-1524)Cga>Tga p.R508* LIHC 17 7466514 7466514 + Silent SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr17:7466514C>A c.121C>A c.(121-123)Cga>Aga p.R41R LIHC 17 7466636 7466636 + Silent SNP G G A TCGA-DD-AACD-01A-11D-A40R-10 TCGA-DD-AACD-10A-01D-A40U-10 g.chr17:7466636G>A c.243G>A c.(241-243)gaG>gaA p.E81E LIHC 17 7470288 7470288 + Splice_Site SNP A A G TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr17:7470288A>G c.1307A>G c.(1306-1308)aAg>aGg p.K436R LIHC 17 7470288 7470288 + Splice_Site SNP A A G TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr17:7470288A>G c.1307A>G c.(1306-1308)aAg>aGg p.K436R LUAD 17 7468082 7468082 + Nonsense_Mutation SNP C C T TCGA-55-6972-01A-11D-1945-08 TCGA-55-6972-11A-01D-1945-08 g.chr17:7468082C>T c.856C>T c.(856-858)Cag>Tag p.Q286* LUAD 17 7474715 7474715 + Nonsense_Mutation SNP C C T TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chr17:7474715C>T c.1639C>T c.(1639-1641)Cag>Tag p.Q547* LUSC 17 7468014 7468014 + Missense_Mutation SNP C C A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr17:7468014C>A c.788C>A c.(787-789)cCc>cAc p.P263H OV 17 7469076 7469076 + Missense_Mutation SNP G G A TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 g.chr17:7469076G>A c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K PAAD 17 7468084 7468084 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:7468084G>T c.858G>T c.(856-858)caG>caT p.Q286H SARC 17 7466910 7466910 + Missense_Mutation SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr17:7466910G>T c.517G>T c.(517-519)Ggg>Tgg p.G173W SKCM 17 7466977 7466977 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr17:7466977C>T c.584C>T c.(583-585)cCc>cTc p.P195L SKCM 17 7467989 7467989 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr17:7467989C>T c.763C>T c.(763-765)Cca>Tca p.P255S SKCM 17 7468318 7468318 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr17:7468318C>T c.998C>T c.(997-999)cCc>cTc p.P333L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 17 7460597 7460597 single base substitution G A upstream_gene_variant ALL-US 17 7479993 7479993 single base substitution T C downstream_gene_variant BLCA-CN 17 7476179 7476179 single base substitution C T downstream_gene_variant BLCA-CN 17 7476201 7476201 single base substitution A T downstream_gene_variant BLCA-CN 17 7478138 7478138 single base substitution A G downstream_gene_variant BLCA-CN 17 7480115 7480115 single base substitution C G downstream_gene_variant BLCA-CN 17 7480263 7480263 single base substitution C T downstream_gene_variant BLCA-US 17 7460637 7460637 single base substitution C A upstream_gene_variant BRCA-EU 17 7461496 7461496 single base substitution C G upstream_gene_variant BRCA-EU 17 7463167 7463167 single base substitution G A upstream_gene_variant BRCA-EU 17 7464553 7464553 single base substitution C G upstream_gene_variant BRCA-EU 17 7464672 7464672 single base substitution G A upstream_gene_variant BRCA-EU 17 7468406 7468406 single base substitution C T exon_variant BRCA-EU 17 7468406 7468406 single base substitution C T intron_variant BRCA-EU 17 7468406 7468406 single base substitution C T upstream_gene_variant BRCA-EU 17 7468872 7468872 deletion of <=200bp A - exon_variant BRCA-EU 17 7468872 7468872 deletion of <=200bp A - frameshift_variant T395 BRCA-EU 17 7468872 7468872 deletion of <=200bp A - frameshift_variant T84 BRCA-EU 17 7468872 7468872 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 7469343 7469343 single base substitution C G exon_variant BRCA-EU 17 7469343 7469343 single base substitution C G intron_variant BRCA-EU 17 7469343 7469343 single base substitution C G upstream_gene_variant BRCA-EU 17 7469752 7469752 single base substitution C G downstream_gene_variant BRCA-EU 17 7469752 7469752 single base substitution C G intron_variant BRCA-EU 17 7469752 7469752 single base substitution C G upstream_gene_variant BRCA-EU 17 7469905 7469905 deletion of <=200bp C - downstream_gene_variant BRCA-EU 17 7469905 7469905 deletion of <=200bp C - intron_variant BRCA-EU 17 7469905 7469905 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 7471576 7471576 single base substitution G C downstream_gene_variant BRCA-EU 17 7471576 7471576 single base substitution G C intron_variant BRCA-EU 17 7471576 7471576 single base substitution G C upstream_gene_variant BRCA-EU 17 7472929 7472929 single base substitution T C downstream_gene_variant BRCA-EU 17 7472929 7472929 single base substitution T C intron_variant BRCA-EU 17 7472929 7472929 single base substitution T C upstream_gene_variant BRCA-EU 17 7473268 7473268 single base substitution T C downstream_gene_variant BRCA-EU 17 7473268 7473268 single base substitution T C intron_variant BRCA-EU 17 7473268 7473268 single base substitution T C upstream_gene_variant BRCA-EU 17 7474027 7474027 single base substitution C T downstream_gene_variant BRCA-EU 17 7474027 7474027 single base substitution C T exon_variant BRCA-EU 17 7474027 7474027 single base substitution C T intron_variant BRCA-EU 17 7474027 7474027 single base substitution C T missense_variant A166V 497C>T BRCA-EU 17 7474027 7474027 single base substitution C T missense_variant A502V 1505C>T BRCA-EU 17 7474027 7474027 single base substitution C T missense_variant A503V 1508C>T BRCA-EU 17 7474027 7474027 single base substitution C T missense_variant A56V 167C>T BRCA-EU 17 7474027 7474027 single base substitution C T upstream_gene_variant BRCA-EU 17 7474248 7474248 single base substitution G A downstream_gene_variant BRCA-EU 17 7474248 7474248 single base substitution G A exon_variant BRCA-EU 17 7474248 7474248 single base substitution G A intron_variant BRCA-EU 17 7474248 7474248 single base substitution G A synonymous_variant L200L 600G>A BRCA-EU 17 7474248 7474248 single base substitution G A synonymous_variant L536L 1608G>A BRCA-EU 17 7474248 7474248 single base substitution G A synonymous_variant L537L 1611G>A BRCA-EU 17 7474248 7474248 single base substitution G A upstream_gene_variant BRCA-EU 17 7474469 7474469 single base substitution G C intron_variant BRCA-EU 17 7474469 7474469 single base substitution G C upstream_gene_variant BRCA-EU 17 7475063 7475063 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 7475063 7475063 single base substitution C T downstream_gene_variant BRCA-EU 17 7475063 7475063 single base substitution C T exon_variant BRCA-EU 17 7475890 7475890 single base substitution C G downstream_gene_variant BRCA-EU 17 7476323 7476323 single base substitution G C downstream_gene_variant BRCA-EU 17 7476912 7476912 single base substitution G C downstream_gene_variant BRCA-EU 17 7476996 7476996 single base substitution C G downstream_gene_variant BRCA-EU 17 7477040 7477040 single base substitution C G downstream_gene_variant BRCA-EU 17 7477133 7477133 single base substitution G A downstream_gene_variant BRCA-EU 17 7477897 7477897 single base substitution G A downstream_gene_variant BRCA-EU 17 7478454 7478454 single base substitution C G downstream_gene_variant BRCA-FR 17 7472929 7472929 single base substitution T C downstream_gene_variant BRCA-FR 17 7472929 7472929 single base substitution T C intron_variant BRCA-FR 17 7472929 7472929 single base substitution T C upstream_gene_variant BRCA-FR 17 7475063 7475063 single base substitution C T 3_prime_UTR_variant BRCA-FR 17 7475063 7475063 single base substitution C T downstream_gene_variant BRCA-FR 17 7475063 7475063 single base substitution C T exon_variant BRCA-FR 17 7476323 7476323 single base substitution G C downstream_gene_variant BRCA-FR 17 7477791 7477791 single base substitution C G downstream_gene_variant BRCA-US 17 7462459 7462459 insertion of <=200bp - G upstream_gene_variant BRCA-US 17 7463369 7463369 single base substitution A T upstream_gene_variant BRCA-US 17 7463398 7463398 single base substitution C T upstream_gene_variant BRCA-US 17 7464141 7464141 single base substitution G T upstream_gene_variant BRCA-US 17 7468905 7468905 single base substitution G C exon_variant BRCA-US 17 7468905 7468905 single base substitution G C splice_donor_variant BRCA-US 17 7468905 7468905 single base substitution G C upstream_gene_variant BRCA-US 17 7474992 7474992 single base substitution G A 3_prime_UTR_variant BRCA-US 17 7474992 7474992 single base substitution G A downstream_gene_variant BRCA-US 17 7474992 7474992 single base substitution G A exon_variant BRCA-US 17 7474992 7474992 single base substitution G A intron_variant BRCA-US 17 7478063 7478063 single base substitution G C downstream_gene_variant BTCA-JP 17 7460227 7460227 single base substitution C G upstream_gene_variant BTCA-JP 17 7460228 7460228 single base substitution C A upstream_gene_variant BTCA-JP 17 7462490 7462490 single base substitution C T upstream_gene_variant BTCA-JP 17 7462848 7462848 single base substitution C T upstream_gene_variant BTCA-JP 17 7466876 7466876 single base substitution C T exon_variant BTCA-JP 17 7466876 7466876 single base substitution C T synonymous_variant L161L 483C>T BTCA-JP 17 7466876 7466876 single base substitution C T upstream_gene_variant BTCA-JP 17 7468756 7468756 single base substitution G T exon_variant BTCA-JP 17 7468756 7468756 single base substitution G T splice_acceptor_variant BTCA-JP 17 7468756 7468756 single base substitution G T upstream_gene_variant BTCA-JP 17 7474046 7474046 single base substitution G A downstream_gene_variant BTCA-JP 17 7474046 7474046 single base substitution G A exon_variant BTCA-JP 17 7474046 7474046 single base substitution G A intron_variant BTCA-JP 17 7474046 7474046 single base substitution G A synonymous_variant L172L 516G>A BTCA-JP 17 7474046 7474046 single base substitution G A synonymous_variant L508L 1524G>A BTCA-JP 17 7474046 7474046 single base substitution G A synonymous_variant L509L 1527G>A BTCA-JP 17 7474046 7474046 single base substitution G A synonymous_variant L62L 186G>A BTCA-JP 17 7474046 7474046 single base substitution G A upstream_gene_variant CESC-US 17 7474944 7474944 insertion of <=200bp - T 3_prime_UTR_variant CESC-US 17 7474944 7474944 insertion of <=200bp - T downstream_gene_variant CESC-US 17 7474944 7474944 insertion of <=200bp - T exon_variant CESC-US 17 7474944 7474944 insertion of <=200bp - T intron_variant CESC-US 17 7478464 7478464 single base substitution C A downstream_gene_variant CESC-US 17 7479841 7479841 single base substitution G T downstream_gene_variant CLLE-ES 17 7474259 7474261 deletion of <=200bp GAT - downstream_gene_variant CLLE-ES 17 7474259 7474261 deletion of <=200bp GAT - intron_variant CLLE-ES 17 7474259 7474261 deletion of <=200bp GAT - splice_region_variant CLLE-ES 17 7474259 7474261 deletion of <=200bp GAT - upstream_gene_variant COAD-US 17 7460433 7460433 single base substitution G A upstream_gene_variant COAD-US 17 7460517 7460517 single base substitution G C upstream_gene_variant COAD-US 17 7460540 7460540 single base substitution G A upstream_gene_variant COAD-US 17 7460559 7460559 single base substitution T G upstream_gene_variant COAD-US 17 7466478 7466478 single base substitution C T exon_variant COAD-US 17 7466478 7466478 single base substitution C T missense_variant R29W 85C>T COAD-US 17 7466478 7466478 single base substitution C T upstream_gene_variant COAD-US 17 7467090 7467090 single base substitution C T exon_variant COAD-US 17 7467090 7467090 single base substitution C T missense_variant P233S 697C>T COAD-US 17 7467090 7467090 single base substitution C T upstream_gene_variant COAD-US 17 7470305 7470305 deletion of <=200bp A - downstream_gene_variant COAD-US 17 7470305 7470305 deletion of <=200bp A - exon_variant COAD-US 17 7470305 7470305 deletion of <=200bp A - frameshift_variant K441 COAD-US 17 7470305 7470305 deletion of <=200bp A - frameshift_variant K442 COAD-US 17 7470305 7470305 deletion of <=200bp A - intron_variant COAD-US 17 7470305 7470305 deletion of <=200bp A - upstream_gene_variant COCA-CN 17 7460685 7460685 single base substitution G A upstream_gene_variant COCA-CN 17 7466577 7466577 single base substitution C T exon_variant COCA-CN 17 7466577 7466577 single base substitution C T missense_variant R62C 184C>T COCA-CN 17 7466577 7466577 single base substitution C T upstream_gene_variant COCA-CN 17 7473532 7473532 single base substitution G A downstream_gene_variant COCA-CN 17 7473532 7473532 single base substitution G A intron_variant COCA-CN 17 7473532 7473532 single base substitution G A upstream_gene_variant COCA-CN 17 7474277 7474277 single base substitution C T downstream_gene_variant COCA-CN 17 7474277 7474277 single base substitution C T intron_variant COCA-CN 17 7474277 7474277 single base substitution C T upstream_gene_variant COCA-CN 17 7474309 7474309 single base substitution G A downstream_gene_variant COCA-CN 17 7474309 7474309 single base substitution G A intron_variant COCA-CN 17 7474309 7474309 single base substitution G A upstream_gene_variant COCA-CN 17 7474539 7474539 single base substitution C T intron_variant COCA-CN 17 7474539 7474539 single base substitution C T upstream_gene_variant COCA-CN 17 7474842 7474842 single base substitution G T 3_prime_UTR_variant COCA-CN 17 7474842 7474842 single base substitution G T downstream_gene_variant COCA-CN 17 7474842 7474842 single base substitution G T exon_variant COCA-CN 17 7474842 7474842 single base substitution G T intron_variant COCA-CN 17 7478498 7478498 single base substitution G A downstream_gene_variant ESAD-UK 17 7463141 7463141 single base substitution G C upstream_gene_variant ESAD-UK 17 7467777 7467777 single base substitution T A exon_variant ESAD-UK 17 7467777 7467777 single base substitution T A intron_variant ESAD-UK 17 7467777 7467777 single base substitution T A upstream_gene_variant ESAD-UK 17 7467778 7467778 single base substitution G T exon_variant ESAD-UK 17 7467778 7467778 single base substitution G T intron_variant ESAD-UK 17 7467778 7467778 single base substitution G T upstream_gene_variant ESAD-UK 17 7468611 7468611 single base substitution G C exon_variant ESAD-UK 17 7468611 7468611 single base substitution G C intron_variant ESAD-UK 17 7468611 7468611 single base substitution G C upstream_gene_variant ESAD-UK 17 7468847 7468847 single base substitution C T exon_variant ESAD-UK 17 7468847 7468847 single base substitution C T synonymous_variant H386H 1158C>T ESAD-UK 17 7468847 7468847 single base substitution C T synonymous_variant H75H 225C>T ESAD-UK 17 7468847 7468847 single base substitution C T upstream_gene_variant ESAD-UK 17 7468855 7468855 single base substitution C T exon_variant ESAD-UK 17 7468855 7468855 single base substitution C T missense_variant T389I 1166C>T ESAD-UK 17 7468855 7468855 single base substitution C T missense_variant T78I 233C>T ESAD-UK 17 7468855 7468855 single base substitution C T upstream_gene_variant ESAD-UK 17 7468901 7468901 single base substitution C A exon_variant ESAD-UK 17 7468901 7468901 single base substitution C A missense_variant D404E 1212C>A ESAD-UK 17 7468901 7468901 single base substitution C A missense_variant D93E 279C>A ESAD-UK 17 7468901 7468901 single base substitution C A upstream_gene_variant ESAD-UK 17 7469488 7469488 single base substitution G T downstream_gene_variant ESAD-UK 17 7469488 7469488 single base substitution G T intron_variant ESAD-UK 17 7469488 7469488 single base substitution G T upstream_gene_variant ESAD-UK 17 7470767 7470767 single base substitution G A downstream_gene_variant ESAD-UK 17 7470767 7470767 single base substitution G A intron_variant ESAD-UK 17 7470767 7470767 single base substitution G A upstream_gene_variant ESAD-UK 17 7474581 7474581 insertion of <=200bp - T intron_variant ESAD-UK 17 7474581 7474581 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 7475962 7475962 single base substitution G C downstream_gene_variant ESAD-UK 17 7475995 7475995 single base substitution C G downstream_gene_variant ESAD-UK 17 7476968 7476968 single base substitution G T downstream_gene_variant ESCA-CN 17 7460330 7460330 single base substitution G A upstream_gene_variant ESCA-CN 17 7464430 7464430 single base substitution C T upstream_gene_variant ESCA-CN 17 7466816 7466816 single base substitution C T exon_variant ESCA-CN 17 7466816 7466816 single base substitution C T synonymous_variant S141S 423C>T ESCA-CN 17 7466816 7466816 single base substitution C T upstream_gene_variant ESCA-CN 17 7476273 7476273 single base substitution G A downstream_gene_variant GBM-US 17 7466491 7466491 single base substitution G A exon_variant GBM-US 17 7466491 7466491 single base substitution G A missense_variant R33H 98G>A GBM-US 17 7466491 7466491 single base substitution G A upstream_gene_variant KIRC-US 17 7480257 7480257 single base substitution T A downstream_gene_variant KIRP-US 17 7464141 7464141 single base substitution G A upstream_gene_variant KIRP-US 17 7470323 7470323 single base substitution G A downstream_gene_variant KIRP-US 17 7470323 7470323 single base substitution G A intron_variant KIRP-US 17 7470323 7470323 single base substitution G A splice_donor_variant KIRP-US 17 7470323 7470323 single base substitution G A upstream_gene_variant KIRP-US 17 7478578 7478578 single base substitution T G downstream_gene_variant LAML-KR 17 7460748 7460748 single base substitution A C upstream_gene_variant LAML-KR 17 7478402 7478402 single base substitution C G downstream_gene_variant LAML-KR 17 7478498 7478498 single base substitution G A downstream_gene_variant LGG-US 17 7474041 7474041 single base substitution C T downstream_gene_variant LGG-US 17 7474041 7474041 single base substitution C T exon_variant LGG-US 17 7474041 7474041 single base substitution C T intron_variant LGG-US 17 7474041 7474041 single base substitution C T stop_gained R171* 511C>T LGG-US 17 7474041 7474041 single base substitution C T stop_gained R507* 1519C>T LGG-US 17 7474041 7474041 single base substitution C T stop_gained R508* 1522C>T LGG-US 17 7474041 7474041 single base substitution C T stop_gained R61* 181C>T LGG-US 17 7474041 7474041 single base substitution C T upstream_gene_variant LGG-US 17 7477923 7477923 deletion of <=200bp C - downstream_gene_variant LICA-FR 17 7468045 7468045 single base substitution G A exon_variant LICA-FR 17 7468045 7468045 single base substitution G A synonymous_variant V273V 819G>A LICA-FR 17 7468045 7468045 single base substitution G A upstream_gene_variant LICA-FR 17 7478550 7478550 single base substitution G T downstream_gene_variant LIHC-US 17 7470288 7470288 single base substitution A G downstream_gene_variant LIHC-US 17 7470288 7470288 single base substitution A G exon_variant LIHC-US 17 7470288 7470288 single base substitution A G intron_variant LIHC-US 17 7470288 7470288 single base substitution A G missense_variant K436R 1307A>G LIHC-US 17 7470288 7470288 single base substitution A G splice_acceptor_variant LIHC-US 17 7470288 7470288 single base substitution A G upstream_gene_variant LINC-JP 17 7464425 7464425 single base substitution G A upstream_gene_variant LINC-JP 17 7469357 7469362 deletion of <=200bp AAAAAG - downstream_gene_variant LINC-JP 17 7469357 7469362 deletion of <=200bp AAAAAG - exon_variant LINC-JP 17 7469357 7469362 deletion of <=200bp AAAAAG - intron_variant LINC-JP 17 7469357 7469362 deletion of <=200bp AAAAAG - upstream_gene_variant LINC-JP 17 7480164 7480164 deletion of <=200bp T - downstream_gene_variant LIRI-JP 17 7461694 7461694 insertion of <=200bp - T upstream_gene_variant LIRI-JP 17 7463394 7463394 insertion of <=200bp - GCAAA upstream_gene_variant LIRI-JP 17 7471001 7471001 single base substitution C T downstream_gene_variant LIRI-JP 17 7471001 7471001 single base substitution C T intron_variant LIRI-JP 17 7471001 7471001 single base substitution C T upstream_gene_variant LIRI-JP 17 7473136 7473136 single base substitution A C downstream_gene_variant LIRI-JP 17 7473136 7473136 single base substitution A C intron_variant LIRI-JP 17 7473136 7473136 single base substitution A C upstream_gene_variant LIRI-JP 17 7473149 7473149 single base substitution A G downstream_gene_variant LIRI-JP 17 7473149 7473149 single base substitution A G intron_variant LIRI-JP 17 7473149 7473149 single base substitution A G upstream_gene_variant LIRI-JP 17 7475905 7475905 single base substitution C T downstream_gene_variant LIRI-JP 17 7477044 7477044 insertion of <=200bp - T downstream_gene_variant LIRI-JP 17 7479403 7479403 single base substitution A C downstream_gene_variant LUSC-KR 17 7460957 7460957 single base substitution G T upstream_gene_variant LUSC-KR 17 7465103 7465103 single base substitution C T upstream_gene_variant LUSC-KR 17 7468216 7468216 single base substitution T C intron_variant LUSC-KR 17 7468216 7468216 single base substitution T C upstream_gene_variant LUSC-KR 17 7470060 7470060 single base substitution A G downstream_gene_variant LUSC-KR 17 7470060 7470060 single base substitution A G intron_variant LUSC-KR 17 7470060 7470060 single base substitution A G upstream_gene_variant LUSC-KR 17 7472660 7472660 single base substitution G A downstream_gene_variant LUSC-KR 17 7472660 7472660 single base substitution G A intron_variant LUSC-KR 17 7472660 7472660 single base substitution G A upstream_gene_variant LUSC-KR 17 7474277 7474277 single base substitution C T downstream_gene_variant LUSC-KR 17 7474277 7474277 single base substitution C T intron_variant LUSC-KR 17 7474277 7474277 single base substitution C T upstream_gene_variant LUSC-KR 17 7476443 7476443 single base substitution G A downstream_gene_variant LUSC-KR 17 7477477 7477477 single base substitution A G downstream_gene_variant LUSC-KR 17 7477938 7477938 single base substitution G C downstream_gene_variant LUSC-KR 17 7477948 7477948 single base substitution G C downstream_gene_variant LUSC-KR 17 7478402 7478402 single base substitution C G downstream_gene_variant LUSC-KR 17 7478498 7478498 single base substitution G A downstream_gene_variant LUSC-US 17 7462439 7462439 single base substitution C G upstream_gene_variant LUSC-US 17 7462449 7462449 single base substitution C T upstream_gene_variant LUSC-US 17 7468014 7468014 single base substitution C A exon_variant LUSC-US 17 7468014 7468014 single base substitution C A missense_variant P263H 788C>A LUSC-US 17 7468014 7468014 single base substitution C A upstream_gene_variant LUSC-US 17 7476179 7476179 single base substitution C T downstream_gene_variant MALY-DE 17 7463323 7463323 single base substitution T C upstream_gene_variant MALY-DE 17 7468600 7468600 single base substitution C A exon_variant MALY-DE 17 7468600 7468600 single base substitution C A intron_variant MALY-DE 17 7468600 7468600 single base substitution C A upstream_gene_variant MALY-DE 17 7470125 7470125 insertion of <=200bp - A downstream_gene_variant MALY-DE 17 7470125 7470125 insertion of <=200bp - A intron_variant MALY-DE 17 7470125 7470125 insertion of <=200bp - A upstream_gene_variant MALY-DE 17 7477117 7477117 single base substitution G T downstream_gene_variant MELA-AU 17 7460263 7460263 single base substitution C T upstream_gene_variant MELA-AU 17 7460710 7460711 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 7462474 7462474 single base substitution G A upstream_gene_variant MELA-AU 17 7462879 7462879 single base substitution G C upstream_gene_variant MELA-AU 17 7464182 7464182 single base substitution A G upstream_gene_variant MELA-AU 17 7464347 7464347 single base substitution C A upstream_gene_variant MELA-AU 17 7465083 7465083 single base substitution G A upstream_gene_variant MELA-AU 17 7465772 7465772 single base substitution G A intron_variant MELA-AU 17 7465772 7465772 single base substitution G A upstream_gene_variant MELA-AU 17 7466378 7466378 single base substitution T A splice_region_variant MELA-AU 17 7466378 7466378 single base substitution T A upstream_gene_variant MELA-AU 17 7466393 7466393 single base substitution G A 5_prime_UTR_variant MELA-AU 17 7466393 7466393 single base substitution G A exon_variant MELA-AU 17 7466393 7466393 single base substitution G A upstream_gene_variant MELA-AU 17 7466692 7466692 single base substitution C T exon_variant MELA-AU 17 7466692 7466692 single base substitution C T missense_variant P100L 299C>T MELA-AU 17 7466692 7466692 single base substitution C T upstream_gene_variant MELA-AU 17 7466770 7466772 multiple base substitution (>=2bp and <=200bp) GCC TTT exon_variant MELA-AU 17 7466770 7466772 multiple base substitution (>=2bp and <=200bp) GCC TTT missense_variant RR126LC MELA-AU 17 7466770 7466772 multiple base substitution (>=2bp and <=200bp) GCC TTT upstream_gene_variant MELA-AU 17 7467290 7467290 single base substitution C T intron_variant MELA-AU 17 7467290 7467290 single base substitution C T upstream_gene_variant MELA-AU 17 7467651 7467651 single base substitution G A intron_variant MELA-AU 17 7467651 7467651 single base substitution G A upstream_gene_variant MELA-AU 17 7468782 7468782 single base substitution C T exon_variant MELA-AU 17 7468782 7468782 single base substitution C T stop_gained Q365* 1093C>T MELA-AU 17 7468782 7468782 single base substitution C T stop_gained Q54* 160C>T MELA-AU 17 7468782 7468782 single base substitution C T upstream_gene_variant MELA-AU 17 7470396 7470396 single base substitution C T downstream_gene_variant MELA-AU 17 7470396 7470396 single base substitution C T intron_variant MELA-AU 17 7470396 7470396 single base substitution C T upstream_gene_variant MELA-AU 17 7470626 7470626 single base substitution G A downstream_gene_variant MELA-AU 17 7470626 7470626 single base substitution G A intron_variant MELA-AU 17 7470626 7470626 single base substitution G A upstream_gene_variant MELA-AU 17 7471856 7471856 single base substitution G A downstream_gene_variant MELA-AU 17 7471856 7471856 single base substitution G A intron_variant MELA-AU 17 7471856 7471856 single base substitution G A upstream_gene_variant MELA-AU 17 7472963 7472963 single base substitution A G downstream_gene_variant MELA-AU 17 7472963 7472963 single base substitution A G intron_variant MELA-AU 17 7472963 7472963 single base substitution A G upstream_gene_variant MELA-AU 17 7473820 7473820 single base substitution G A downstream_gene_variant MELA-AU 17 7473820 7473820 single base substitution G A intron_variant MELA-AU 17 7473820 7473820 single base substitution G A upstream_gene_variant MELA-AU 17 7474686 7474686 single base substitution C T exon_variant MELA-AU 17 7474686 7474686 single base substitution C T intron_variant MELA-AU 17 7474686 7474686 single base substitution C T splice_region_variant MELA-AU 17 7474853 7474853 single base substitution C T 3_prime_UTR_variant MELA-AU 17 7474853 7474853 single base substitution C T downstream_gene_variant MELA-AU 17 7474853 7474853 single base substitution C T exon_variant MELA-AU 17 7474853 7474853 single base substitution C T intron_variant MELA-AU 17 7475926 7475926 single base substitution G A downstream_gene_variant MELA-AU 17 7475935 7475936 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 7476436 7476436 single base substitution C T downstream_gene_variant MELA-AU 17 7476536 7476536 single base substitution A C downstream_gene_variant MELA-AU 17 7476734 7476734 single base substitution G A downstream_gene_variant MELA-AU 17 7476918 7476918 single base substitution T C downstream_gene_variant MELA-AU 17 7477356 7477356 single base substitution C T downstream_gene_variant MELA-AU 17 7477411 7477411 single base substitution G A downstream_gene_variant MELA-AU 17 7477745 7477745 single base substitution G A downstream_gene_variant MELA-AU 17 7478287 7478287 single base substitution C T downstream_gene_variant MELA-AU 17 7479162 7479162 single base substitution C T downstream_gene_variant MELA-AU 17 7479272 7479272 single base substitution C T downstream_gene_variant MELA-AU 17 7479793 7479793 single base substitution C T downstream_gene_variant MELA-AU 17 7480094 7480094 single base substitution C T downstream_gene_variant MELA-AU 17 7480158 7480158 single base substitution T C downstream_gene_variant ORCA-IN 17 7462431 7462431 single base substitution G A upstream_gene_variant ORCA-IN 17 7466433 7466433 single base substitution G C exon_variant ORCA-IN 17 7466433 7466433 single base substitution G C missense_variant E14Q 40G>C ORCA-IN 17 7466433 7466433 single base substitution G C upstream_gene_variant ORCA-IN 17 7466899 7466899 single base substitution C T exon_variant ORCA-IN 17 7466899 7466899 single base substitution C T missense_variant S169L 506C>T ORCA-IN 17 7466899 7466899 single base substitution C T upstream_gene_variant ORCA-IN 17 7468120 7468120 single base substitution G T exon_variant ORCA-IN 17 7468120 7468120 single base substitution G T missense_variant R298S 894G>T ORCA-IN 17 7468120 7468120 single base substitution G T upstream_gene_variant OV-AU 17 7461510 7461510 single base substitution C G upstream_gene_variant OV-US 17 7469076 7469076 single base substitution G A exon_variant OV-US 17 7469076 7469076 single base substitution G A missense_variant E109K 325G>A OV-US 17 7469076 7469076 single base substitution G A missense_variant E420K 1258G>A OV-US 17 7469076 7469076 single base substitution G A upstream_gene_variant PACA-AU 17 7464203 7464203 single base substitution G A upstream_gene_variant PACA-AU 17 7464204 7464204 single base substitution G T upstream_gene_variant PACA-AU 17 7465153 7465153 single base substitution G T upstream_gene_variant PACA-CA 17 7461602 7461602 single base substitution C G upstream_gene_variant PACA-CA 17 7466265 7466265 single base substitution G A intron_variant PACA-CA 17 7466265 7466265 single base substitution G A upstream_gene_variant PACA-CA 17 7467714 7467714 single base substitution T A exon_variant PACA-CA 17 7467714 7467714 single base substitution T A intron_variant PACA-CA 17 7467714 7467714 single base substitution T A upstream_gene_variant PACA-CA 17 7469105 7469105 single base substitution T C exon_variant PACA-CA 17 7469105 7469105 single base substitution T C intron_variant PACA-CA 17 7469105 7469105 single base substitution T C upstream_gene_variant PACA-CA 17 7476240 7476240 single base substitution G T downstream_gene_variant PBCA-DE 17 7464799 7464799 single base substitution A G upstream_gene_variant PBCA-DE 17 7467020 7467021 deletion of <=200bp GA - exon_variant PBCA-DE 17 7467020 7467021 deletion of <=200bp GA - frameshift_variant VR209 PBCA-DE 17 7467020 7467021 deletion of <=200bp GA - upstream_gene_variant PBCA-DE 17 7477351 7477351 single base substitution A C downstream_gene_variant PRAD-UK 17 7474940 7474940 single base substitution C T 3_prime_UTR_variant PRAD-UK 17 7474940 7474940 single base substitution C T downstream_gene_variant PRAD-UK 17 7474940 7474940 single base substitution C T exon_variant PRAD-UK 17 7474940 7474940 single base substitution C T intron_variant PRAD-US 17 7460486 7460486 single base substitution G C upstream_gene_variant RECA-EU 17 7463696 7463696 single base substitution G T upstream_gene_variant SKCA-BR 17 7462792 7462792 single base substitution C T upstream_gene_variant SKCA-BR 17 7469350 7469350 insertion of <=200bp - TA exon_variant SKCA-BR 17 7469350 7469350 insertion of <=200bp - TA intron_variant SKCA-BR 17 7469350 7469350 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 17 7472012 7472012 single base substitution C T downstream_gene_variant SKCA-BR 17 7472012 7472012 single base substitution C T intron_variant SKCA-BR 17 7472012 7472012 single base substitution C T upstream_gene_variant SKCA-BR 17 7474104 7474104 single base substitution T G downstream_gene_variant SKCA-BR 17 7474104 7474104 single base substitution T G intron_variant SKCA-BR 17 7474104 7474104 single base substitution T G upstream_gene_variant SKCA-BR 17 7474774 7474774 single base substitution G A exon_variant SKCA-BR 17 7474774 7474774 single base substitution G A synonymous_variant E102E 306G>A SKCA-BR 17 7474774 7474774 single base substitution G A synonymous_variant E229E 687G>A SKCA-BR 17 7474774 7474774 single base substitution G A synonymous_variant E565E 1695G>A SKCA-BR 17 7474774 7474774 single base substitution G A synonymous_variant E566E 1698G>A SKCA-BR 17 7474774 7474774 single base substitution G A synonymous_variant E74E 222G>A SKCA-BR 17 7475216 7475228 deletion of <=200bp TATATATATATAA - downstream_gene_variant SKCA-BR 17 7475216 7475228 deletion of <=200bp TATATATATATAA - exon_variant SKCA-BR 17 7475216 7475228 deletion of <=200bp TATATATATATAA - splice_acceptor_variant SKCA-BR 17 7475224 7475224 single base substitution T A downstream_gene_variant SKCA-BR 17 7475224 7475224 single base substitution T A exon_variant SKCA-BR 17 7475224 7475224 single base substitution T A intron_variant SKCA-BR 17 7475932 7475932 single base substitution G A downstream_gene_variant SKCA-BR 17 7478280 7478280 single base substitution T C downstream_gene_variant SKCA-BR 17 7479062 7479062 single base substitution A G downstream_gene_variant SKCA-BR 17 7479822 7479822 single base substitution A C downstream_gene_variant SKCM-US 17 7466977 7466977 single base substitution C T exon_variant SKCM-US 17 7466977 7466977 single base substitution C T missense_variant P195L 584C>T SKCM-US 17 7466977 7466977 single base substitution C T upstream_gene_variant SKCM-US 17 7467989 7467989 single base substitution C T exon_variant SKCM-US 17 7467989 7467989 single base substitution C T missense_variant P255S 763C>T SKCM-US 17 7467989 7467989 single base substitution C T upstream_gene_variant SKCM-US 17 7468318 7468318 single base substitution C T exon_variant SKCM-US 17 7468318 7468318 single base substitution C T missense_variant P22L 65C>T SKCM-US 17 7468318 7468318 single base substitution C T missense_variant P333L 998C>T SKCM-US 17 7468318 7468318 single base substitution C T upstream_gene_variant SKCM-US 17 7476160 7476160 single base substitution A G downstream_gene_variant SKCM-US 17 7476169 7476169 single base substitution A T downstream_gene_variant SKCM-US 17 7478546 7478546 single base substitution C T downstream_gene_variant SKCM-US 17 7480012 7480012 single base substitution T A downstream_gene_variant STAD-US 17 7463187 7463187 single base substitution T C upstream_gene_variant STAD-US 17 7463198 7463198 single base substitution G A upstream_gene_variant STAD-US 17 7463439 7463470 deletion of <=200bp TGGTGTCCGAATCCAGGATGCTGGAGTTTATC - upstream_gene_variant STAD-US 17 7466636 7466636 single base substitution G A exon_variant STAD-US 17 7466636 7466636 single base substitution G A synonymous_variant E81E 243G>A STAD-US 17 7466636 7466636 single base substitution G A upstream_gene_variant STAD-US 17 7466947 7466947 single base substitution G A exon_variant STAD-US 17 7466947 7466947 single base substitution G A missense_variant R185H 554G>A STAD-US 17 7466947 7466947 single base substitution G A upstream_gene_variant STAD-US 17 7466956 7466956 deletion of <=200bp C - exon_variant STAD-US 17 7466956 7466956 deletion of <=200bp C - frameshift_variant S188 STAD-US 17 7466956 7466956 deletion of <=200bp C - upstream_gene_variant STAD-US 17 7467048 7467048 deletion of <=200bp C - exon_variant STAD-US 17 7467048 7467048 deletion of <=200bp C - frameshift_variant P219 STAD-US 17 7467048 7467048 deletion of <=200bp C - upstream_gene_variant STAD-US 17 7468286 7468286 single base substitution C T exon_variant STAD-US 17 7468286 7468286 single base substitution C T synonymous_variant D11D 33C>T STAD-US 17 7468286 7468286 single base substitution C T synonymous_variant D322D 966C>T STAD-US 17 7468286 7468286 single base substitution C T upstream_gene_variant STAD-US 17 7468308 7468308 single base substitution A C exon_variant STAD-US 17 7468308 7468308 single base substitution A C missense_variant S19R 55A>C STAD-US 17 7468308 7468308 single base substitution A C missense_variant S330R 988A>C STAD-US 17 7468308 7468308 single base substitution A C upstream_gene_variant STAD-US 17 7468815 7468815 single base substitution G A exon_variant STAD-US 17 7468815 7468815 single base substitution G A missense_variant V376M 1126G>A STAD-US 17 7468815 7468815 single base substitution G A missense_variant V65M 193G>A STAD-US 17 7468815 7468815 single base substitution G A upstream_gene_variant STAD-US 17 7469041 7469041 single base substitution A G exon_variant STAD-US 17 7469041 7469041 single base substitution A G missense_variant N408S 1223A>G STAD-US 17 7469041 7469041 single base substitution A G missense_variant N97S 290A>G STAD-US 17 7469041 7469041 single base substitution A G upstream_gene_variant STAD-US 17 7473750 7473750 single base substitution T C downstream_gene_variant STAD-US 17 7473750 7473750 single base substitution T C exon_variant STAD-US 17 7473750 7473750 single base substitution T C missense_variant V136A 407T>C STAD-US 17 7473750 7473750 single base substitution T C missense_variant V26A 77T>C STAD-US 17 7473750 7473750 single base substitution T C missense_variant V472A 1415T>C STAD-US 17 7473750 7473750 single base substitution T C missense_variant V473A 1418T>C STAD-US 17 7473750 7473750 single base substitution T C upstream_gene_variant STAD-US 17 7473797 7473797 single base substitution C T downstream_gene_variant STAD-US 17 7473797 7473797 single base substitution C T exon_variant STAD-US 17 7473797 7473797 single base substitution C T missense_variant R152C 454C>T STAD-US 17 7473797 7473797 single base substitution C T missense_variant R42C 124C>T STAD-US 17 7473797 7473797 single base substitution C T missense_variant R488C 1462C>T STAD-US 17 7473797 7473797 single base substitution C T missense_variant R489C 1465C>T STAD-US 17 7473797 7473797 single base substitution C T upstream_gene_variant STAD-US 17 7476162 7476162 single base substitution G A downstream_gene_variant STAD-US 17 7480012 7480012 single base substitution T C downstream_gene_variant THCA-SA 17 7460957 7460957 single base substitution G T upstream_gene_variant THCA-SA 17 7478498 7478498 single base substitution G A downstream_gene_variant UCEC-US 17 7460485 7460485 single base substitution C T upstream_gene_variant UCEC-US 17 7460486 7460486 single base substitution G A upstream_gene_variant UCEC-US 17 7460591 7460591 single base substitution G A upstream_gene_variant UCEC-US 17 7460647 7460647 single base substitution G A upstream_gene_variant UCEC-US 17 7463440 7463440 single base substitution G C upstream_gene_variant UCEC-US 17 7463447 7463447 single base substitution G A upstream_gene_variant UCEC-US 17 7463713 7463713 single base substitution G C upstream_gene_variant UCEC-US 17 7466979 7466979 single base substitution C T exon_variant UCEC-US 17 7466979 7466979 single base substitution C T missense_variant R196W 586C>T UCEC-US 17 7466979 7466979 single base substitution C T upstream_gene_variant UCEC-US 17 7467982 7467982 single base substitution A G exon_variant UCEC-US 17 7467982 7467982 single base substitution A G synonymous_variant Q252Q 756A>G UCEC-US 17 7467982 7467982 single base substitution A G upstream_gene_variant UCEC-US 17 7468843 7468843 single base substitution G A exon_variant UCEC-US 17 7468843 7468843 single base substitution G A missense_variant R385Q 1154G>A UCEC-US 17 7468843 7468843 single base substitution G A missense_variant R74Q 221G>A UCEC-US 17 7468843 7468843 single base substitution G A upstream_gene_variant UCEC-US 17 7473676 7473676 deletion of <=200bp G - downstream_gene_variant UCEC-US 17 7473676 7473676 deletion of <=200bp G - frameshift_variant V1 UCEC-US 17 7473676 7473676 deletion of <=200bp G - frameshift_variant V111 UCEC-US 17 7473676 7473676 deletion of <=200bp G - frameshift_variant V447 UCEC-US 17 7473676 7473676 deletion of <=200bp G - frameshift_variant V448 UCEC-US 17 7473676 7473676 deletion of <=200bp G - splice_region_variant UCEC-US 17 7473676 7473676 deletion of <=200bp G - upstream_gene_variant UCEC-US 17 7473788 7473788 single base substitution A G downstream_gene_variant UCEC-US 17 7473788 7473788 single base substitution A G exon_variant UCEC-US 17 7473788 7473788 single base substitution A G missense_variant T149A 445A>G UCEC-US 17 7473788 7473788 single base substitution A G missense_variant T39A 115A>G UCEC-US 17 7473788 7473788 single base substitution A G missense_variant T485A 1453A>G UCEC-US 17 7473788 7473788 single base substitution A G missense_variant T486A 1456A>G UCEC-US 17 7473788 7473788 single base substitution A G upstream_gene_variant UCEC-US 17 7476181 7476181 single base substitution C T downstream_gene_variant UCEC-US 17 7478520 7478520 single base substitution G A downstream_gene_variant UCEC-US 17 7478537 7478537 single base substitution G A downstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.513926 17p13 612844

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGATGATG - IntronicDeletion . c.1614+7_1614+14delAGATGATG 17 7474258 CLL A G Synonymous p.Q252Q c.756A>G 17 7467982 UCEC C A Missense p.P263H c.788C>A 17 7468014 LUSC C T Missense p.P195L c.584C>T 17 7466977 CM C T Missense p.P246L c.737C>T 17 7467963 CM C T Missense p.P255S c.763C>T 17 7467989 CM C T Missense p.P333L c.998C>T 17 7468318 CM C T Missense p.R196W c.586C>T 17 7466979 UCEC C T Missense p.S355F c.1064C>T 17 7468384 CM C T Nonsense p.Q547* c.1639C>T 17 7474715 LUAD C T Nonsense p.R508* c.1522C>T 17 7474041 LGG G A Missense p.E420K c.1258G>A 17 7469076 OV G A Missense p.R185H c.554G>A 17 7466947 STAD G A Missense p.R33H c.98G>A 17 7466491 GBM G A Synonymous p.R356R c.1068G>A 17 7468757 GBM G C SpliceDonorSNV . c.1215+1G>C 17 7468905 BRCA G - Frameshift p.D449Tfs*9 c.1345delG 17 7473676 UCEC