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 5 171661284 171661284 + Missense_Mutation SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr5:171661284A>G c.149T>C c.(148-150)cTa>cCa p.L50P BLCA 5 171661228 171661228 + Missense_Mutation SNP C C G TCGA-XF-AAMQ-01A-11D-A42E-08 TCGA-XF-AAMQ-10A-01D-A42H-08 g.chr5:171661228C>G c.205G>C c.(205-207)Gag>Cag p.E69Q BLCA 5 171661337 171661337 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr5:171661337C>G c.96G>C c.(94-96)ttG>ttC p.L32F BLCA 5 171661337 171661337 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:171661337C>G c.96G>C c.(94-96)ttG>ttC p.L32F BRCA 5 171638974 171638974 + Missense_Mutation SNP G G A TCGA-D8-A1Y1-01A-21D-A14K-09 TCGA-D8-A1Y1-10A-01D-A14K-09 g.chr5:171638974G>A c.565C>T c.(565-567)Cca>Tca p.P189S BRCA 5 171639034 171639034 + Missense_Mutation SNP G G A TCGA-E2-A152-01A-11D-A12B-09 TCGA-E2-A152-10A-01D-A12B-09 g.chr5:171639034G>A c.505C>T c.(505-507)Cgc>Tgc p.R169C CESC 5 171639088 171639088 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr5:171639088C>G c.451G>C c.(451-453)Gaa>Caa p.E151Q COAD 5 171638918 171638918 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171638918G>A c.621C>T c.(619-621)ttC>ttT p.F207F COAD 5 171639000 171639000 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171639000C>T c.539G>A c.(538-540)cGg>cAg p.R180Q COAD 5 171639165 171639165 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr5:171639165G>A c.374C>T c.(373-375)cCg>cTg p.P125L COAD 5 171661228 171661228 + Nonsense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:171661228C>A c.205G>T c.(205-207)Gag>Tag p.E69* COADREAD 5 171638918 171638918 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171638918G>A c.621C>T c.(619-621)ttC>ttT p.F207F COADREAD 5 171639000 171639000 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:171639000C>T c.539G>A c.(538-540)cGg>cAg p.R180Q COADREAD 5 171639165 171639165 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr5:171639165G>A c.374C>T c.(373-375)cCg>cTg p.P125L COADREAD 5 171661228 171661228 + Nonsense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:171661228C>A c.205G>T c.(205-207)Gag>Tag p.E69* HNSC 5 171639129 171639129 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 g.chr5:171639129T>C c.410A>G c.(409-411)gAg>gGg p.E137G KIPAN 5 171661228 171661228 + Missense_Mutation SNP C C T TCGA-B1-A655-01A-11D-A31Z-10 TCGA-B1-A655-10A-01D-A31X-10 g.chr5:171661228C>T c.205G>A c.(205-207)Gag>Aag p.E69K KIRP 5 171661228 171661228 + Missense_Mutation SNP C C T TCGA-B1-A655-01A-11D-A31Z-10 TCGA-B1-A655-10A-01D-A31X-10 g.chr5:171661228C>T c.205G>A c.(205-207)Gag>Aag p.E69K LUAD 5 171639032 171639032 + Silent SNP G G T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr5:171639032G>T c.507C>A c.(505-507)cgC>cgA p.R169R LUAD 5 171639033 171639033 + Missense_Mutation SNP C C G TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr5:171639033C>G c.506G>C c.(505-507)cGc>cCc p.R169P OV 5 171639071 171639071 + Silent SNP C C T TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 g.chr5:171639071C>T c.468G>A c.(466-468)ttG>ttA p.L156L PAAD 5 171638856 171638856 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:171638856T>C c.683A>G c.(682-684)aAc>aGc p.N228S PAAD 5 171638977 171638977 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:171638977C>T c.562G>A c.(562-564)Gaa>Aaa p.E188K SKCM 5 171638903 171638903 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr5:171638903G>A c.636C>T c.(634-636)atC>atT p.I212I SKCM 5 171638904 171638904 + Missense_Mutation SNP A A T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr5:171638904A>T c.635T>A c.(634-636)aTc>aAc p.I212N SKCM 5 171638918 171638918 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr5:171638918G>A c.621C>T c.(619-621)ttC>ttT p.F207F SKCM 5 171639076 171639076 + Missense_Mutation SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr5:171639076G>A c.463C>T c.(463-465)Cgt>Tgt p.R155C SKCM 5 171639123 171639123 + Missense_Mutation SNP A A T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr5:171639123A>T c.416T>A c.(415-417)cTg>cAg p.L139Q SKCM 5 171639158 171639158 + Silent SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr5:171639158G>A c.381C>T c.(379-381)atC>atT p.I127I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 171639202 171639202 single base substitution C G missense_variant G113R 337G>C BRCA-EU 5 171633988 171633988 single base substitution A C downstream_gene_variant BRCA-EU 5 171635979 171635979 single base substitution G A downstream_gene_variant BRCA-EU 5 171637627 171637627 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 171638281 171638281 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 171639431 171639431 single base substitution C T intron_variant BRCA-EU 5 171639561 171639561 single base substitution G C intron_variant BRCA-EU 5 171639815 171639815 single base substitution C T intron_variant BRCA-EU 5 171639845 171639845 single base substitution T A intron_variant BRCA-EU 5 171641339 171641339 single base substitution T G intron_variant BRCA-EU 5 171642278 171642278 single base substitution C A intron_variant BRCA-EU 5 171642993 171642993 insertion of <=200bp - C intron_variant BRCA-EU 5 171644028 171644028 single base substitution C G intron_variant BRCA-EU 5 171647495 171647495 single base substitution C T intron_variant BRCA-EU 5 171648450 171648450 single base substitution G C intron_variant BRCA-EU 5 171648595 171648595 single base substitution T C intron_variant BRCA-EU 5 171650151 171650151 single base substitution G C intron_variant BRCA-EU 5 171650504 171650504 single base substitution G A intron_variant BRCA-EU 5 171650928 171650928 single base substitution A C intron_variant BRCA-EU 5 171651891 171651891 single base substitution G A intron_variant BRCA-EU 5 171652272 171652272 single base substitution G A intron_variant BRCA-EU 5 171652398 171652398 single base substitution G C intron_variant BRCA-EU 5 171652447 171652447 single base substitution G A intron_variant BRCA-EU 5 171652489 171652489 single base substitution G A intron_variant BRCA-EU 5 171652497 171652497 single base substitution G A intron_variant BRCA-EU 5 171652672 171652672 single base substitution G A intron_variant BRCA-EU 5 171652754 171652754 single base substitution G A intron_variant BRCA-EU 5 171652840 171652840 single base substitution T A intron_variant BRCA-EU 5 171653197 171653197 single base substitution G C intron_variant BRCA-EU 5 171653236 171653236 single base substitution G C intron_variant BRCA-EU 5 171653321 171653321 single base substitution G A intron_variant BRCA-EU 5 171653390 171653390 single base substitution G A intron_variant BRCA-EU 5 171653441 171653441 single base substitution G C intron_variant BRCA-EU 5 171653814 171653814 single base substitution G C intron_variant BRCA-EU 5 171654049 171654049 single base substitution C G intron_variant BRCA-EU 5 171655902 171655902 single base substitution C T intron_variant BRCA-EU 5 171656081 171656081 single base substitution C T intron_variant BRCA-EU 5 171657337 171657337 deletion of <=200bp A - intron_variant BRCA-EU 5 171658741 171658741 single base substitution G A intron_variant BRCA-EU 5 171658845 171658845 single base substitution T C intron_variant BRCA-EU 5 171659886 171659886 single base substitution C G intron_variant BRCA-EU 5 171660063 171660063 single base substitution G C intron_variant BRCA-EU 5 171661166 171661166 single base substitution T C synonymous_variant A89A 267A>G BRCA-EU 5 171662092 171662092 single base substitution A T intron_variant BRCA-EU 5 171664674 171664677 deletion of <=200bp AAAT - intron_variant BRCA-EU 5 171665862 171665862 single base substitution G A intron_variant BRCA-EU 5 171666867 171666867 single base substitution C G intron_variant BRCA-EU 5 171666891 171666891 single base substitution G C intron_variant BRCA-EU 5 171667405 171667405 single base substitution T C intron_variant BRCA-EU 5 171667640 171667640 insertion of <=200bp - T intron_variant BRCA-EU 5 171669133 171669133 single base substitution G C intron_variant BRCA-EU 5 171669560 171669560 single base substitution C A intron_variant BRCA-EU 5 171670390 171670390 single base substitution G A intron_variant BRCA-EU 5 171672485 171672485 single base substitution G C intron_variant BRCA-EU 5 171672547 171672547 single base substitution C G intron_variant BRCA-EU 5 171673326 171673326 deletion of <=200bp A - intron_variant BRCA-EU 5 171673695 171673695 single base substitution G A intron_variant BRCA-EU 5 171675199 171675199 single base substitution C T intron_variant BRCA-EU 5 171679478 171679478 single base substitution C T intron_variant BRCA-EU 5 171680922 171680922 deletion of <=200bp A - intron_variant BRCA-EU 5 171681136 171681136 single base substitution C T intron_variant BRCA-EU 5 171683103 171683103 single base substitution A T intron_variant BRCA-EU 5 171683468 171683468 single base substitution C A intron_variant BRCA-EU 5 171685756 171685756 single base substitution C T intron_variant BRCA-EU 5 171686383 171686383 single base substitution G A intron_variant BRCA-EU 5 171687894 171687894 single base substitution G C intron_variant BRCA-EU 5 171688777 171688777 single base substitution C T intron_variant BRCA-EU 5 171690550 171690550 single base substitution G A intron_variant BRCA-EU 5 171692390 171692390 single base substitution G C intron_variant BRCA-EU 5 171694082 171694082 single base substitution T G intron_variant BRCA-EU 5 171694206 171694206 single base substitution A T intron_variant BRCA-EU 5 171694697 171694697 single base substitution A T intron_variant BRCA-EU 5 171694830 171694830 single base substitution G T intron_variant BRCA-EU 5 171694952 171694952 single base substitution T C intron_variant BRCA-EU 5 171695079 171695079 single base substitution C A intron_variant BRCA-EU 5 171695138 171695138 single base substitution G A intron_variant BRCA-EU 5 171695805 171695805 single base substitution G C intron_variant BRCA-EU 5 171697880 171697880 single base substitution G A intron_variant BRCA-EU 5 171699044 171699044 single base substitution T A intron_variant BRCA-EU 5 171699422 171699422 single base substitution G C intron_variant BRCA-EU 5 171701582 171701582 single base substitution G C intron_variant BRCA-EU 5 171702026 171702026 single base substitution C T intron_variant BRCA-EU 5 171702136 171702136 single base substitution C A intron_variant BRCA-EU 5 171703356 171703356 single base substitution A G intron_variant BRCA-EU 5 171705507 171705507 single base substitution G A intron_variant BRCA-EU 5 171706314 171706314 single base substitution G C intron_variant BRCA-EU 5 171706376 171706376 single base substitution A T intron_variant BRCA-EU 5 171707465 171707465 single base substitution G A intron_variant BRCA-EU 5 171707557 171707557 single base substitution G A intron_variant BRCA-EU 5 171707607 171707607 single base substitution G A intron_variant BRCA-EU 5 171707632 171707632 single base substitution G A intron_variant BRCA-EU 5 171707781 171707781 single base substitution G A intron_variant BRCA-EU 5 171709788 171709788 single base substitution C G intron_variant BRCA-EU 5 171710106 171710106 single base substitution G C intron_variant BRCA-EU 5 171711751 171711751 single base substitution C T upstream_gene_variant BRCA-EU 5 171712132 171712132 single base substitution T A upstream_gene_variant BRCA-EU 5 171712916 171712916 single base substitution C A upstream_gene_variant BRCA-EU 5 171713493 171713493 single base substitution G A upstream_gene_variant BRCA-EU 5 171714626 171714626 single base substitution C T upstream_gene_variant BRCA-EU 5 171714635 171714635 single base substitution C A upstream_gene_variant BRCA-EU 5 171714870 171714870 single base substitution G A upstream_gene_variant BRCA-EU 5 171715130 171715130 single base substitution T G upstream_gene_variant BRCA-EU 5 171715331 171715331 single base substitution C T upstream_gene_variant BRCA-EU 5 171715650 171715653 deletion of <=200bp CTAT - upstream_gene_variant BRCA-FR 5 171631707 171631707 single base substitution G C downstream_gene_variant BRCA-FR 5 171644028 171644028 single base substitution C G intron_variant BRCA-FR 5 171659886 171659886 single base substitution C G intron_variant BRCA-FR 5 171672547 171672547 single base substitution C G intron_variant BRCA-FR 5 171673695 171673695 single base substitution G A intron_variant BRCA-FR 5 171675199 171675199 single base substitution C T intron_variant BRCA-FR 5 171681811 171681811 single base substitution G A intron_variant BRCA-FR 5 171683468 171683468 single base substitution C A intron_variant BRCA-FR 5 171699422 171699422 single base substitution G C intron_variant BRCA-FR 5 171701582 171701582 single base substitution G C intron_variant BRCA-FR 5 171702136 171702136 single base substitution C A intron_variant BRCA-FR 5 171705507 171705507 single base substitution G A intron_variant BRCA-FR 5 171706314 171706314 single base substitution G C intron_variant BRCA-FR 5 171709788 171709788 single base substitution C G intron_variant BRCA-FR 5 171710106 171710106 single base substitution G C intron_variant BRCA-FR 5 171714626 171714626 single base substitution C T upstream_gene_variant BRCA-FR 5 171715633 171715633 single base substitution G A upstream_gene_variant BRCA-UK 5 171639431 171639431 single base substitution C T intron_variant BRCA-UK 5 171650151 171650151 single base substitution G C intron_variant BRCA-UK 5 171650504 171650504 single base substitution G A intron_variant BRCA-UK 5 171652840 171652840 single base substitution T A intron_variant BRCA-UK 5 171656297 171656297 single base substitution G C intron_variant BRCA-UK 5 171683103 171683103 single base substitution A T intron_variant BRCA-UK 5 171703356 171703356 single base substitution A G intron_variant BRCA-UK 5 171714635 171714635 single base substitution C A upstream_gene_variant BRCA-US 5 171638974 171638974 single base substitution G A missense_variant P189S 565C>T BRCA-US 5 171639034 171639034 single base substitution G A missense_variant R169C 505C>T CESC-US 5 171639088 171639088 single base substitution C G missense_variant E151Q 451G>C CLLE-ES 5 171640629 171640629 single base substitution A T intron_variant CLLE-ES 5 171652057 171652057 single base substitution T A intron_variant CLLE-ES 5 171683617 171683617 single base substitution T G intron_variant COAD-US 5 171661228 171661228 single base substitution C A stop_gained E69* 205G>T COCA-CN 5 171636339 171636339 single base substitution C T downstream_gene_variant COCA-CN 5 171636398 171636398 single base substitution C A downstream_gene_variant COCA-CN 5 171636674 171636674 single base substitution T A 3_prime_UTR_variant COCA-CN 5 171636675 171636675 single base substitution A T 3_prime_UTR_variant COCA-CN 5 171639327 171639327 single base substitution G A intron_variant COCA-CN 5 171662653 171662653 single base substitution C T intron_variant COCA-CN 5 171681776 171681776 single base substitution C A intron_variant COCA-CN 5 171683900 171683900 single base substitution C T intron_variant COCA-CN 5 171684281 171684281 single base substitution G A intron_variant COCA-CN 5 171694066 171694066 single base substitution T G intron_variant COCA-CN 5 171709191 171709191 single base substitution G T intron_variant EOPC-DE 5 171681279 171681279 single base substitution T C intron_variant ESAD-UK 5 171635193 171635193 single base substitution A G downstream_gene_variant ESAD-UK 5 171636675 171636676 deletion of <=200bp AA - 3_prime_UTR_variant ESAD-UK 5 171639001 171639001 single base substitution G T synonymous_variant R180R 538C>A ESAD-UK 5 171641510 171641510 single base substitution T C intron_variant ESAD-UK 5 171643919 171643919 single base substitution G A intron_variant ESAD-UK 5 171644479 171644479 deletion of <=200bp A - intron_variant ESAD-UK 5 171645573 171645573 single base substitution G T intron_variant ESAD-UK 5 171652029 171652029 single base substitution A T intron_variant ESAD-UK 5 171652098 171652098 single base substitution T C intron_variant ESAD-UK 5 171652595 171652595 single base substitution A G intron_variant ESAD-UK 5 171654549 171654549 single base substitution T A intron_variant ESAD-UK 5 171655422 171655422 single base substitution A C intron_variant ESAD-UK 5 171660436 171660436 single base substitution T A intron_variant ESAD-UK 5 171660926 171660926 single base substitution C T intron_variant ESAD-UK 5 171662671 171662673 deletion of <=200bp GCA - intron_variant ESAD-UK 5 171667496 171667496 deletion of <=200bp A - intron_variant ESAD-UK 5 171668950 171668950 single base substitution A G intron_variant ESAD-UK 5 171669545 171669545 single base substitution A C intron_variant ESAD-UK 5 171669545 171669545 single base substitution A T intron_variant ESAD-UK 5 171670876 171670876 deletion of <=200bp T - intron_variant ESAD-UK 5 171671901 171671901 single base substitution T G intron_variant ESAD-UK 5 171672873 171672873 single base substitution C A intron_variant ESAD-UK 5 171675364 171675364 single base substitution C T intron_variant ESAD-UK 5 171676164 171676164 single base substitution G A intron_variant ESAD-UK 5 171677451 171677451 single base substitution T C intron_variant ESAD-UK 5 171679738 171679738 single base substitution C T intron_variant ESAD-UK 5 171681760 171681760 deletion of <=200bp G - intron_variant ESAD-UK 5 171686057 171686057 single base substitution A G intron_variant ESAD-UK 5 171687775 171687775 single base substitution C A intron_variant ESAD-UK 5 171690051 171690051 single base substitution C T intron_variant ESAD-UK 5 171691218 171691218 insertion of <=200bp - CTC intron_variant ESAD-UK 5 171693633 171693633 single base substitution G C intron_variant ESAD-UK 5 171693879 171693879 insertion of <=200bp - A intron_variant ESAD-UK 5 171695579 171695579 single base substitution C T intron_variant ESAD-UK 5 171697524 171697524 single base substitution T C intron_variant ESAD-UK 5 171697812 171697812 single base substitution C A intron_variant ESAD-UK 5 171704696 171704696 single base substitution C T intron_variant ESAD-UK 5 171704785 171704785 single base substitution G A intron_variant ESAD-UK 5 171705415 171705415 single base substitution C T intron_variant ESAD-UK 5 171707027 171707027 single base substitution C A intron_variant ESAD-UK 5 171707978 171707978 single base substitution T A intron_variant ESAD-UK 5 171708342 171708342 single base substitution T A intron_variant ESAD-UK 5 171711292 171711292 single base substitution G A upstream_gene_variant ESAD-UK 5 171713080 171713080 single base substitution C T upstream_gene_variant ESAD-UK 5 171713354 171713354 single base substitution C T upstream_gene_variant ESAD-UK 5 171713801 171713801 single base substitution G T upstream_gene_variant ESAD-UK 5 171714584 171714584 single base substitution C T upstream_gene_variant ESAD-UK 5 171714811 171714811 single base substitution G A upstream_gene_variant ESAD-UK 5 171715074 171715074 single base substitution A G upstream_gene_variant KIRP-US 5 171661228 171661228 single base substitution C T missense_variant E69K 205G>A LAML-KR 5 171661166 171661166 single base substitution T C synonymous_variant A89A 267A>G LAML-KR 5 171682641 171682641 single base substitution C T intron_variant LAML-KR 5 171705524 171705524 single base substitution G A intron_variant LICA-FR 5 171638093 171638093 single base substitution G A 3_prime_UTR_variant LICA-FR 5 171644663 171644663 single base substitution T C intron_variant LICA-FR 5 171661125 171661125 single base substitution C T splice_donor_variant LICA-FR 5 171672980 171672980 single base substitution A T intron_variant LICA-FR 5 171682512 171682512 single base substitution T C intron_variant LICA-FR 5 171697355 171697358 deletion of <=200bp TTTT - intron_variant LICA-FR 5 171711681 171711681 single base substitution A C upstream_gene_variant LINC-JP 5 171636173 171636173 single base substitution T C downstream_gene_variant LINC-JP 5 171662093 171662093 single base substitution T A intron_variant LINC-JP 5 171662388 171662388 single base substitution C G intron_variant LINC-JP 5 171668712 171668712 single base substitution T C intron_variant LINC-JP 5 171696744 171696744 deletion of <=200bp A - intron_variant LINC-JP 5 171705277 171705277 single base substitution G T intron_variant LINC-JP 5 171714734 171714734 single base substitution A G upstream_gene_variant LIRI-JP 5 171633482 171633482 single base substitution T C downstream_gene_variant LIRI-JP 5 171635654 171635654 single base substitution C T downstream_gene_variant LIRI-JP 5 171637579 171637579 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 5 171640442 171640442 single base substitution G A intron_variant LIRI-JP 5 171641399 171641399 single base substitution C T intron_variant LIRI-JP 5 171644470 171644470 single base substitution A G intron_variant LIRI-JP 5 171645989 171645989 single base substitution G A intron_variant LIRI-JP 5 171646006 171646006 single base substitution A G intron_variant LIRI-JP 5 171648684 171648684 single base substitution T C intron_variant LIRI-JP 5 171651496 171651496 single base substitution T C intron_variant LIRI-JP 5 171652649 171652649 single base substitution G A intron_variant LIRI-JP 5 171654234 171654234 single base substitution T C intron_variant LIRI-JP 5 171658818 171658818 single base substitution A G intron_variant LIRI-JP 5 171659454 171659454 single base substitution T C intron_variant LIRI-JP 5 171661969 171661969 single base substitution C T intron_variant LIRI-JP 5 171662474 171662474 single base substitution T C intron_variant LIRI-JP 5 171663341 171663341 single base substitution C T intron_variant LIRI-JP 5 171664961 171664961 single base substitution C T intron_variant LIRI-JP 5 171665934 171665934 single base substitution G C intron_variant LIRI-JP 5 171668079 171668079 single base substitution G A intron_variant LIRI-JP 5 171669515 171669515 single base substitution T C intron_variant LIRI-JP 5 171670217 171670217 single base substitution C T intron_variant LIRI-JP 5 171675250 171675250 single base substitution C A intron_variant LIRI-JP 5 171675713 171675713 single base substitution C T intron_variant LIRI-JP 5 171676593 171676593 single base substitution T A intron_variant LIRI-JP 5 171677426 171677426 single base substitution A G intron_variant LIRI-JP 5 171677883 171677883 single base substitution A C intron_variant LIRI-JP 5 171678717 171678717 single base substitution C T intron_variant LIRI-JP 5 171685593 171685593 single base substitution T C intron_variant LIRI-JP 5 171687807 171687807 single base substitution T C intron_variant LIRI-JP 5 171688307 171688307 single base substitution T C intron_variant LIRI-JP 5 171689095 171689095 single base substitution T C intron_variant LIRI-JP 5 171691603 171691603 single base substitution C A intron_variant LIRI-JP 5 171692123 171692123 single base substitution G A intron_variant LIRI-JP 5 171693872 171693872 single base substitution T C intron_variant LIRI-JP 5 171695218 171695218 single base substitution T C intron_variant LIRI-JP 5 171697410 171697410 single base substitution G A intron_variant LIRI-JP 5 171699433 171699433 single base substitution C G intron_variant LIRI-JP 5 171700020 171700020 single base substitution G A intron_variant LIRI-JP 5 171700021 171700021 single base substitution C T intron_variant LIRI-JP 5 171701727 171701727 single base substitution T G intron_variant LIRI-JP 5 171701926 171701926 single base substitution G A intron_variant LIRI-JP 5 171706697 171706697 single base substitution T A intron_variant LIRI-JP 5 171708257 171708257 single base substitution T A intron_variant LIRI-JP 5 171708279 171708279 single base substitution A C intron_variant LIRI-JP 5 171708283 171708283 single base substitution A C intron_variant LIRI-JP 5 171711825 171711825 single base substitution T A upstream_gene_variant LIRI-JP 5 171711871 171711871 single base substitution C A upstream_gene_variant LIRI-JP 5 171714453 171714453 single base substitution T G upstream_gene_variant LIRI-JP 5 171714923 171714923 single base substitution C T upstream_gene_variant LUSC-KR 5 171636675 171636675 single base substitution A T 3_prime_UTR_variant LUSC-KR 5 171645809 171645809 single base substitution A T intron_variant LUSC-KR 5 171646427 171646427 single base substitution T C intron_variant LUSC-KR 5 171647255 171647255 single base substitution T C intron_variant LUSC-KR 5 171654207 171654207 single base substitution C A intron_variant LUSC-KR 5 171667759 171667759 single base substitution G A intron_variant LUSC-KR 5 171668438 171668438 single base substitution G A intron_variant LUSC-KR 5 171671351 171671351 single base substitution A G intron_variant LUSC-KR 5 171671417 171671417 single base substitution C T intron_variant LUSC-KR 5 171672624 171672624 single base substitution G A intron_variant LUSC-KR 5 171674288 171674288 single base substitution T C intron_variant LUSC-KR 5 171682083 171682083 single base substitution G A intron_variant LUSC-KR 5 171683850 171683850 single base substitution C T intron_variant LUSC-KR 5 171705358 171705358 single base substitution C A intron_variant LUSC-KR 5 171713689 171713689 single base substitution C A upstream_gene_variant MALY-DE 5 171632962 171632962 single base substitution G A downstream_gene_variant MALY-DE 5 171643119 171643119 single base substitution T G intron_variant MALY-DE 5 171658343 171658343 single base substitution C A intron_variant MALY-DE 5 171661163 171661163 single base substitution T C synonymous_variant Q90Q 270A>G MALY-DE 5 171676398 171676398 single base substitution G T intron_variant MALY-DE 5 171676430 171676435 deletion of <=200bp AAGAAC - intron_variant MALY-DE 5 171683472 171683472 single base substitution A T intron_variant MALY-DE 5 171694531 171694531 single base substitution G A intron_variant MALY-DE 5 171699073 171699073 single base substitution C T intron_variant MALY-DE 5 171704448 171704448 single base substitution C T intron_variant MALY-DE 5 171709210 171709210 single base substitution A G intron_variant MELA-AU 5 171631710 171631710 single base substitution G A downstream_gene_variant MELA-AU 5 171631713 171631713 single base substitution T C downstream_gene_variant MELA-AU 5 171631752 171631753 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 171633307 171633307 single base substitution G A downstream_gene_variant MELA-AU 5 171633477 171633477 single base substitution G A downstream_gene_variant MELA-AU 5 171633527 171633527 single base substitution G A downstream_gene_variant MELA-AU 5 171634546 171634546 single base substitution G A downstream_gene_variant MELA-AU 5 171634632 171634632 single base substitution C T downstream_gene_variant MELA-AU 5 171634650 171634650 single base substitution G A downstream_gene_variant MELA-AU 5 171634983 171634983 single base substitution G A downstream_gene_variant MELA-AU 5 171636092 171636092 single base substitution G A downstream_gene_variant MELA-AU 5 171636302 171636302 single base substitution G A downstream_gene_variant MELA-AU 5 171636674 171636674 single base substitution T A 3_prime_UTR_variant MELA-AU 5 171636934 171636934 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171637198 171637198 single base substitution A G 3_prime_UTR_variant MELA-AU 5 171637622 171637622 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171637884 171637884 single base substitution G T 3_prime_UTR_variant MELA-AU 5 171638045 171638045 single base substitution C T 3_prime_UTR_variant MELA-AU 5 171638206 171638206 single base substitution G A 3_prime_UTR_variant MELA-AU 5 171638370 171638370 single base substitution A T 3_prime_UTR_variant MELA-AU 5 171638584 171638584 single base substitution A T 3_prime_UTR_variant MELA-AU 5 171639933 171639933 single base substitution G A intron_variant MELA-AU 5 171640021 171640021 single base substitution G A intron_variant MELA-AU 5 171640233 171640233 single base substitution G A intron_variant MELA-AU 5 171640543 171640543 single base substitution G A intron_variant MELA-AU 5 171640570 171640570 single base substitution T C intron_variant MELA-AU 5 171640768 171640768 single base substitution G A intron_variant MELA-AU 5 171641668 171641668 single base substitution G A intron_variant MELA-AU 5 171642367 171642368 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171642425 171642425 single base substitution G A intron_variant MELA-AU 5 171642505 171642505 single base substitution G A intron_variant MELA-AU 5 171642640 171642640 single base substitution G A intron_variant MELA-AU 5 171642925 171642925 single base substitution T A intron_variant MELA-AU 5 171642938 171642938 single base substitution C T intron_variant MELA-AU 5 171643529 171643529 single base substitution G A intron_variant MELA-AU 5 171643865 171643865 single base substitution G A intron_variant MELA-AU 5 171644461 171644461 single base substitution G A intron_variant MELA-AU 5 171644497 171644497 single base substitution A G intron_variant MELA-AU 5 171645240 171645240 single base substitution G A intron_variant MELA-AU 5 171645474 171645474 single base substitution G A intron_variant MELA-AU 5 171645564 171645564 single base substitution A G intron_variant MELA-AU 5 171645671 171645671 single base substitution C T intron_variant MELA-AU 5 171645880 171645880 single base substitution G T intron_variant MELA-AU 5 171646162 171646162 single base substitution G A intron_variant MELA-AU 5 171646638 171646638 single base substitution G A intron_variant MELA-AU 5 171646856 171646856 single base substitution G A intron_variant MELA-AU 5 171647369 171647369 single base substitution G A intron_variant MELA-AU 5 171647399 171647399 single base substitution G A intron_variant MELA-AU 5 171648714 171648714 single base substitution G A intron_variant MELA-AU 5 171648983 171648983 single base substitution C T intron_variant MELA-AU 5 171649226 171649226 single base substitution G A intron_variant MELA-AU 5 171649547 171649547 single base substitution A G intron_variant MELA-AU 5 171649550 171649550 single base substitution A G intron_variant MELA-AU 5 171649741 171649741 single base substitution G A intron_variant MELA-AU 5 171650169 171650169 single base substitution G A intron_variant MELA-AU 5 171650391 171650391 single base substitution G A intron_variant MELA-AU 5 171650736 171650736 single base substitution G A intron_variant MELA-AU 5 171651001 171651001 single base substitution G A intron_variant MELA-AU 5 171651064 171651064 single base substitution G A intron_variant MELA-AU 5 171651446 171651446 single base substitution G A intron_variant MELA-AU 5 171651667 171651685 deletion of <=200bp GGCCTTGCTTCCCCTTTGG - intron_variant MELA-AU 5 171652112 171652112 single base substitution C T intron_variant MELA-AU 5 171653164 171653164 single base substitution G A intron_variant MELA-AU 5 171653856 171653856 single base substitution G A intron_variant MELA-AU 5 171653950 171653950 single base substitution G A intron_variant MELA-AU 5 171654037 171654038 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171654116 171654116 single base substitution G A intron_variant MELA-AU 5 171655029 171655029 single base substitution G A intron_variant MELA-AU 5 171655946 171655946 single base substitution A G intron_variant MELA-AU 5 171656300 171656300 single base substitution C T intron_variant MELA-AU 5 171656537 171656537 single base substitution G A intron_variant MELA-AU 5 171656943 171656944 multiple base substitution (>=2bp and <=200bp) AT GA intron_variant MELA-AU 5 171657226 171657226 single base substitution G A intron_variant MELA-AU 5 171657356 171657356 single base substitution A G intron_variant MELA-AU 5 171657669 171657670 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171658126 171658126 single base substitution G A intron_variant MELA-AU 5 171659204 171659204 single base substitution G A intron_variant MELA-AU 5 171659641 171659641 single base substitution G A intron_variant MELA-AU 5 171659971 171659971 single base substitution C T intron_variant MELA-AU 5 171661620 171661620 single base substitution G A intron_variant MELA-AU 5 171662093 171662093 single base substitution T A intron_variant MELA-AU 5 171663397 171663397 single base substitution T A intron_variant MELA-AU 5 171663558 171663558 single base substitution G A intron_variant MELA-AU 5 171664063 171664063 single base substitution G A intron_variant MELA-AU 5 171664064 171664064 single base substitution G A intron_variant MELA-AU 5 171664152 171664152 single base substitution G A intron_variant MELA-AU 5 171665525 171665525 single base substitution T C intron_variant MELA-AU 5 171667219 171667219 single base substitution G A intron_variant MELA-AU 5 171668030 171668030 single base substitution G A intron_variant MELA-AU 5 171668334 171668334 single base substitution A G intron_variant MELA-AU 5 171668773 171668773 single base substitution C G intron_variant MELA-AU 5 171668842 171668842 single base substitution G A intron_variant MELA-AU 5 171668919 171668919 single base substitution G A intron_variant MELA-AU 5 171668997 171668997 single base substitution G A intron_variant MELA-AU 5 171669005 171669005 single base substitution G A intron_variant MELA-AU 5 171669313 171669313 single base substitution G A intron_variant MELA-AU 5 171669315 171669315 single base substitution A G intron_variant MELA-AU 5 171669363 171669363 single base substitution G A intron_variant MELA-AU 5 171669914 171669914 single base substitution G A intron_variant MELA-AU 5 171670186 171670186 single base substitution G A intron_variant MELA-AU 5 171670279 171670279 single base substitution T C intron_variant MELA-AU 5 171670830 171670830 single base substitution G A intron_variant MELA-AU 5 171671001 171671001 single base substitution G A intron_variant MELA-AU 5 171671063 171671064 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171671572 171671572 single base substitution G A intron_variant MELA-AU 5 171672362 171672362 single base substitution C T intron_variant MELA-AU 5 171672510 171672510 single base substitution G A intron_variant MELA-AU 5 171672549 171672549 single base substitution C T intron_variant MELA-AU 5 171673190 171673190 single base substitution T A intron_variant MELA-AU 5 171673424 171673424 single base substitution A C intron_variant MELA-AU 5 171674223 171674223 single base substitution C A intron_variant MELA-AU 5 171674446 171674446 single base substitution G A intron_variant MELA-AU 5 171675082 171675082 single base substitution A C intron_variant MELA-AU 5 171675932 171675932 single base substitution G A intron_variant MELA-AU 5 171675945 171675945 single base substitution G A intron_variant MELA-AU 5 171675947 171675948 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171676311 171676311 single base substitution G A intron_variant MELA-AU 5 171677588 171677588 single base substitution C G intron_variant MELA-AU 5 171677727 171677727 single base substitution G A intron_variant MELA-AU 5 171677925 171677925 single base substitution G A intron_variant MELA-AU 5 171678139 171678140 deletion of <=200bp AA - intron_variant MELA-AU 5 171678931 171678931 single base substitution G A intron_variant MELA-AU 5 171679293 171679293 single base substitution A G intron_variant MELA-AU 5 171680168 171680168 single base substitution G A intron_variant MELA-AU 5 171681077 171681077 single base substitution G A intron_variant MELA-AU 5 171681266 171681266 single base substitution G A intron_variant MELA-AU 5 171681555 171681555 single base substitution G A intron_variant MELA-AU 5 171682106 171682106 single base substitution G A intron_variant MELA-AU 5 171682114 171682114 single base substitution G A intron_variant MELA-AU 5 171682187 171682187 single base substitution G A intron_variant MELA-AU 5 171682393 171682393 single base substitution G A intron_variant MELA-AU 5 171682418 171682418 single base substitution G A intron_variant MELA-AU 5 171682587 171682587 single base substitution G A intron_variant MELA-AU 5 171682810 171682810 single base substitution G A intron_variant MELA-AU 5 171683685 171683685 single base substitution G A intron_variant MELA-AU 5 171684441 171684441 single base substitution G A intron_variant MELA-AU 5 171685479 171685479 single base substitution C T intron_variant MELA-AU 5 171685624 171685624 single base substitution C T intron_variant MELA-AU 5 171686337 171686337 single base substitution G A intron_variant MELA-AU 5 171686641 171686641 single base substitution G A intron_variant MELA-AU 5 171686818 171686818 single base substitution G A intron_variant MELA-AU 5 171687388 171687388 single base substitution G A intron_variant MELA-AU 5 171688086 171688086 single base substitution G A intron_variant MELA-AU 5 171690030 171690030 single base substitution G A intron_variant MELA-AU 5 171690077 171690077 single base substitution G A intron_variant MELA-AU 5 171690205 171690205 single base substitution G A intron_variant MELA-AU 5 171690635 171690635 single base substitution A G intron_variant MELA-AU 5 171690727 171690727 single base substitution G A intron_variant MELA-AU 5 171690774 171690774 single base substitution G A intron_variant MELA-AU 5 171691439 171691439 single base substitution G A intron_variant MELA-AU 5 171691856 171691856 single base substitution G A intron_variant MELA-AU 5 171693149 171693149 single base substitution G A intron_variant MELA-AU 5 171693238 171693238 single base substitution A C intron_variant MELA-AU 5 171693690 171693691 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171694474 171694475 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 171694863 171694863 single base substitution G A intron_variant MELA-AU 5 171694864 171694864 single base substitution G A intron_variant MELA-AU 5 171695518 171695518 single base substitution G A intron_variant MELA-AU 5 171695983 171695983 single base substitution G A intron_variant MELA-AU 5 171697007 171697007 single base substitution G A intron_variant MELA-AU 5 171698157 171698157 single base substitution G A intron_variant MELA-AU 5 171698296 171698296 single base substitution G A intron_variant MELA-AU 5 171698797 171698797 single base substitution G T intron_variant MELA-AU 5 171698858 171698858 single base substitution C T intron_variant MELA-AU 5 171699702 171699702 single base substitution G A intron_variant MELA-AU 5 171701643 171701643 single base substitution C T intron_variant MELA-AU 5 171703057 171703057 single base substitution G A intron_variant MELA-AU 5 171703691 171703691 single base substitution G A intron_variant MELA-AU 5 171703984 171703984 single base substitution A G intron_variant MELA-AU 5 171704292 171704292 single base substitution A T intron_variant MELA-AU 5 171705341 171705341 single base substitution G A intron_variant MELA-AU 5 171705420 171705420 single base substitution G A intron_variant MELA-AU 5 171705749 171705749 single base substitution G A intron_variant MELA-AU 5 171706189 171706189 single base substitution G A intron_variant MELA-AU 5 171706350 171706350 single base substitution G A intron_variant MELA-AU 5 171708288 171708288 single base substitution C T intron_variant MELA-AU 5 171709721 171709721 single base substitution T C intron_variant MELA-AU 5 171710368 171710368 single base substitution G A intron_variant MELA-AU 5 171711310 171711310 single base substitution G A upstream_gene_variant MELA-AU 5 171711583 171711583 single base substitution G A upstream_gene_variant MELA-AU 5 171712272 171712272 single base substitution C T upstream_gene_variant MELA-AU 5 171712933 171712933 single base substitution G A upstream_gene_variant MELA-AU 5 171713103 171713103 single base substitution C T upstream_gene_variant MELA-AU 5 171713114 171713114 single base substitution G A upstream_gene_variant MELA-AU 5 171713377 171713377 single base substitution T C upstream_gene_variant MELA-AU 5 171713477 171713477 single base substitution G A upstream_gene_variant MELA-AU 5 171713508 171713508 single base substitution G A upstream_gene_variant MELA-AU 5 171713671 171713671 single base substitution C T upstream_gene_variant MELA-AU 5 171714522 171714522 single base substitution G A upstream_gene_variant MELA-AU 5 171714650 171714650 single base substitution C T upstream_gene_variant MELA-AU 5 171715453 171715453 single base substitution C T upstream_gene_variant MELA-AU 5 171716004 171716004 single base substitution C T upstream_gene_variant ORCA-IN 5 171633552 171633552 single base substitution G A downstream_gene_variant ORCA-IN 5 171634090 171634090 single base substitution G A downstream_gene_variant ORCA-IN 5 171634513 171634513 single base substitution G C downstream_gene_variant ORCA-IN 5 171659172 171659172 single base substitution G A intron_variant ORCA-IN 5 171666132 171666132 single base substitution C T intron_variant ORCA-IN 5 171675293 171675293 deletion of <=200bp A - intron_variant OV-AU 5 171633594 171633594 single base substitution T C downstream_gene_variant OV-AU 5 171636642 171636642 single base substitution C G downstream_gene_variant OV-AU 5 171650631 171650631 single base substitution G T intron_variant OV-AU 5 171650957 171650957 single base substitution C T intron_variant OV-AU 5 171651735 171651735 single base substitution C G intron_variant OV-AU 5 171656918 171656918 single base substitution A G intron_variant OV-AU 5 171657701 171657701 single base substitution T A intron_variant OV-AU 5 171663562 171663562 single base substitution T A intron_variant OV-AU 5 171674672 171674672 single base substitution C G intron_variant OV-AU 5 171675780 171675780 single base substitution A T intron_variant OV-AU 5 171683983 171683983 single base substitution T A intron_variant OV-AU 5 171684017 171684017 single base substitution A G intron_variant OV-AU 5 171687353 171687353 single base substitution G C intron_variant OV-AU 5 171696213 171696213 single base substitution G A intron_variant PACA-AU 5 171636676 171636676 single base substitution A T 3_prime_UTR_variant PACA-AU 5 171651918 171651918 single base substitution C A intron_variant PACA-AU 5 171655204 171655204 single base substitution C T intron_variant PACA-AU 5 171656411 171656411 single base substitution A T intron_variant PACA-AU 5 171658072 171658072 single base substitution C A intron_variant PACA-AU 5 171664436 171664436 single base substitution C T intron_variant PACA-AU 5 171666505 171666505 single base substitution A C intron_variant PACA-AU 5 171671403 171671403 single base substitution C A intron_variant PACA-AU 5 171675507 171675521 deletion of <=200bp GCTTGAACCCAGGAG - intron_variant PACA-AU 5 171677052 171677052 single base substitution C G intron_variant PACA-AU 5 171693989 171693989 single base substitution C A intron_variant PACA-AU 5 171694370 171694370 single base substitution C T intron_variant PACA-AU 5 171695074 171695074 single base substitution T C intron_variant PACA-AU 5 171695348 171695348 single base substitution G T intron_variant PACA-AU 5 171697472 171697472 single base substitution G A intron_variant PACA-AU 5 171707861 171707861 single base substitution A G intron_variant PACA-AU 5 171708111 171708111 single base substitution C G intron_variant PACA-CA 5 171632170 171632170 single base substitution C A downstream_gene_variant PACA-CA 5 171634561 171634561 single base substitution T C downstream_gene_variant PACA-CA 5 171635101 171635101 single base substitution T C downstream_gene_variant PACA-CA 5 171636446 171636446 single base substitution T C downstream_gene_variant PACA-CA 5 171637081 171637081 single base substitution A T 3_prime_UTR_variant PACA-CA 5 171640148 171640148 single base substitution C T intron_variant PACA-CA 5 171643969 171643969 single base substitution A T intron_variant PACA-CA 5 171647342 171647342 insertion of <=200bp - A intron_variant PACA-CA 5 171653270 171653270 single base substitution T C intron_variant PACA-CA 5 171655077 171655077 single base substitution G C intron_variant PACA-CA 5 171659739 171659739 single base substitution G T intron_variant PACA-CA 5 171660120 171660121 deletion of <=200bp AA - intron_variant PACA-CA 5 171660131 171660131 single base substitution A T intron_variant PACA-CA 5 171661464 171661464 single base substitution C T intron_variant PACA-CA 5 171664498 171664498 single base substitution A G intron_variant PACA-CA 5 171664549 171664549 single base substitution T G intron_variant PACA-CA 5 171666652 171666652 single base substitution C T intron_variant PACA-CA 5 171667496 171667496 deletion of <=200bp A - intron_variant PACA-CA 5 171668263 171668263 single base substitution C T intron_variant PACA-CA 5 171669243 171669243 single base substitution G C intron_variant PACA-CA 5 171670898 171670898 single base substitution A G intron_variant PACA-CA 5 171671793 171671793 single base substitution T G intron_variant PACA-CA 5 171678797 171678797 single base substitution C T intron_variant PACA-CA 5 171680922 171680922 single base substitution A G intron_variant PACA-CA 5 171681197 171681197 single base substitution G A intron_variant PACA-CA 5 171681894 171681894 single base substitution C T intron_variant PACA-CA 5 171682093 171682093 single base substitution A C intron_variant PACA-CA 5 171690259 171690259 single base substitution C A intron_variant PACA-CA 5 171690371 171690388 deletion of <=200bp GTAAGTTAAAATAGGACA - intron_variant PACA-CA 5 171696624 171696624 single base substitution G A intron_variant PACA-CA 5 171699517 171699517 single base substitution A T intron_variant PACA-CA 5 171704099 171704099 single base substitution A G intron_variant PACA-CA 5 171711018 171711018 single base substitution A G 5_prime_UTR_variant PACA-CA 5 171714298 171714298 single base substitution G A upstream_gene_variant PAEN-AU 5 171659523 171659523 single base substitution A G intron_variant PAEN-AU 5 171675422 171675422 single base substitution T A intron_variant PAEN-AU 5 171678672 171678672 single base substitution A G intron_variant PAEN-AU 5 171696485 171696485 single base substitution G A intron_variant PAEN-AU 5 171704666 171704666 single base substitution C T intron_variant PBCA-DE 5 171637673 171637673 single base substitution A C 3_prime_UTR_variant PBCA-DE 5 171638556 171638558 deletion of <=200bp GTT - 3_prime_UTR_variant PBCA-DE 5 171638567 171638567 single base substitution T A 3_prime_UTR_variant PBCA-DE 5 171639492 171639492 single base substitution T C intron_variant PBCA-DE 5 171644338 171644338 single base substitution G A intron_variant PBCA-DE 5 171660813 171660813 single base substitution T G intron_variant PBCA-DE 5 171668277 171668277 single base substitution C T intron_variant PBCA-DE 5 171686734 171686734 single base substitution G C intron_variant PBCA-DE 5 171687068 171687068 single base substitution T C intron_variant PBCA-DE 5 171687271 171687271 single base substitution T A intron_variant PBCA-DE 5 171687282 171687282 single base substitution C T intron_variant PBCA-DE 5 171689818 171689818 insertion of <=200bp - A intron_variant PBCA-DE 5 171690856 171690856 insertion of <=200bp - TGTGTGTGTGTG intron_variant PBCA-DE 5 171714261 171714261 single base substitution C T upstream_gene_variant PRAD-CA 5 171692943 171692943 single base substitution G T intron_variant PRAD-CA 5 171710293 171710293 single base substitution G T intron_variant PRAD-UK 5 171659046 171659046 single base substitution A T intron_variant PRAD-UK 5 171660989 171660989 single base substitution G A intron_variant PRAD-UK 5 171691911 171691911 insertion of <=200bp - A intron_variant PRAD-UK 5 171713180 171713206 deletion of <=200bp GAGGTGGGAGAATTACCTGAATCCAGA - upstream_gene_variant READ-US 5 171638918 171638918 single base substitution G A synonymous_variant F207F 621C>T RECA-EU 5 171641666 171641666 single base substitution C T intron_variant RECA-EU 5 171643049 171643049 single base substitution T C intron_variant RECA-EU 5 171644977 171644977 single base substitution A G intron_variant RECA-EU 5 171653283 171653283 single base substitution T C intron_variant RECA-EU 5 171664530 171664530 single base substitution C T intron_variant RECA-EU 5 171679098 171679098 single base substitution G A intron_variant RECA-EU 5 171683399 171683399 single base substitution T A intron_variant RECA-EU 5 171684461 171684461 single base substitution A T intron_variant RECA-EU 5 171689535 171689535 single base substitution G T intron_variant RECA-EU 5 171691203 171691203 single base substitution T C intron_variant RECA-EU 5 171691234 171691234 single base substitution A T intron_variant RECA-EU 5 171705447 171705447 single base substitution T C intron_variant SKCA-BR 5 171634487 171634487 single base substitution G A downstream_gene_variant SKCA-BR 5 171637463 171637463 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 171639573 171639573 single base substitution C A intron_variant SKCA-BR 5 171642944 171642944 single base substitution T G intron_variant SKCA-BR 5 171645418 171645418 single base substitution A C intron_variant SKCA-BR 5 171645419 171645419 single base substitution C T intron_variant SKCA-BR 5 171645784 171645794 deletion of <=200bp AAAAAAAAAAT - intron_variant SKCA-BR 5 171647361 171647361 single base substitution C G intron_variant SKCA-BR 5 171651262 171651265 deletion of <=200bp CATA - intron_variant SKCA-BR 5 171651302 171651304 deletion of <=200bp CTT - intron_variant SKCA-BR 5 171651582 171651582 single base substitution A C intron_variant SKCA-BR 5 171651862 171651862 single base substitution G C intron_variant SKCA-BR 5 171654691 171654691 single base substitution G A intron_variant SKCA-BR 5 171654853 171654853 single base substitution T A intron_variant SKCA-BR 5 171656504 171656505 deletion of <=200bp CA - intron_variant SKCA-BR 5 171660411 171660411 single base substitution C T intron_variant SKCA-BR 5 171661859 171661906 deletion of <=200bp CCATGATCATGCCACTGCACTTCAGCCTGGGCGAGAGTGAAACCTCAT - intron_variant SKCA-BR 5 171663487 171663487 single base substitution G A intron_variant SKCA-BR 5 171670558 171670559 deletion of <=200bp CT - intron_variant SKCA-BR 5 171670723 171670723 single base substitution T C intron_variant SKCA-BR 5 171671299 171671299 insertion of <=200bp - GTTTGTTTT intron_variant SKCA-BR 5 171671628 171671628 single base substitution C T intron_variant SKCA-BR 5 171672715 171672715 insertion of <=200bp - CA intron_variant SKCA-BR 5 171673755 171673766 deletion of <=200bp CTTTTTTTTTTT - intron_variant SKCA-BR 5 171678469 171678475 deletion of <=200bp CAAAAAA - intron_variant SKCA-BR 5 171678841 171678841 single base substitution A C intron_variant SKCA-BR 5 171681153 171681153 single base substitution G A intron_variant SKCA-BR 5 171682274 171682274 single base substitution A G intron_variant SKCA-BR 5 171683390 171683390 insertion of <=200bp - CT intron_variant SKCA-BR 5 171694043 171694044 deletion of <=200bp TA - intron_variant SKCA-BR 5 171694043 171694045 deletion of <=200bp TAA - intron_variant SKCA-BR 5 171694562 171694562 single base substitution C T intron_variant SKCA-BR 5 171694564 171694564 single base substitution C T intron_variant SKCA-BR 5 171697366 171697366 single base substitution T A intron_variant SKCA-BR 5 171700095 171700100 deletion of <=200bp AAAAAT - intron_variant SKCA-BR 5 171700128 171700128 single base substitution G C intron_variant SKCA-BR 5 171700611 171700624 deletion of <=200bp AAAAAAAAAAAAAG - intron_variant SKCA-BR 5 171706539 171706539 single base substitution A T intron_variant SKCA-BR 5 171713729 171713729 single base substitution A G upstream_gene_variant SKCA-BR 5 171714567 171714568 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 5 171715226 171715228 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 5 171715228 171715228 single base substitution T C upstream_gene_variant SKCA-BR 5 171715704 171715704 single base substitution G A upstream_gene_variant SKCA-BR 5 171715989 171715989 single base substitution G T upstream_gene_variant SKCM-US 5 171638918 171638918 single base substitution G A synonymous_variant F207F 621C>T SKCM-US 5 171639076 171639076 single base substitution G A missense_variant R155C 463C>T SKCM-US 5 171639123 171639123 single base substitution A T missense_variant L139Q 416T>A SKCM-US 5 171639158 171639158 single base substitution G A synonymous_variant I127I 381C>T STAD-US 5 171638907 171638907 single base substitution T A missense_variant K211M 632A>T STAD-US 5 171638962 171638962 single base substitution G A missense_variant R193W 577C>T STAD-US 5 171639009 171639009 single base substitution A G missense_variant M177T 530T>C STAD-US 5 171661162 171661162 single base substitution C T missense_variant A91T 271G>A THCA-SA 5 171636926 171636926 single base substitution C T 3_prime_UTR_variant UCEC-US 5 171638918 171638918 single base substitution G A synonymous_variant F207F 621C>T UCEC-US 5 171639034 171639034 single base substitution G A missense_variant R169C 505C>T UCEC-US 5 171639137 171639137 single base substitution G A synonymous_variant S134S 402C>T UCEC-US 5 171639194 171639194 single base substitution T G missense_variant R115S 345A>C UCEC-US 5 171639220 171639220 single base substitution C A stop_gained E107* 319G>T UCEC-US 5 171661180 171661180 single base substitution C A missense_variant D85Y 253G>T UCEC-US 5 171661194 171661194 single base substitution G A missense_variant A80V 239C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LS411 COSM3339666 c.433C>T p.P145S Substitution - Missense 5:172212102-172212102 - TCGA-BP-4988-01 COSM482521 c.140A>G p.D47G Substitution - Missense 5:172234289-172234289 - STC232 COSM5060940 c.179C>T p.T60I Substitution - Missense 5:172234250-172234250 - CN-AML-NR-08-Dx COSM3683823 c.267A>G p.A89A Substitution - coding silent 5:172234162-172234162 - ME007T COSM222474 c.7G>T p.G3W Substitution - Missense 5:172283659-172283659 - TCGA-CG-5721-01 COSM3853733 c.577C>T p.R193W Substitution - Missense 5:172211958-172211958 - TCGA-D1-A17Q-01 COSM286263 c.621C>T p.F207F Substitution - coding silent 5:172211914-172211914 - B88 COSM1754183 c.337G>C p.G113R Substitution - Missense 5:172212198-172212198 - TCGA-B1-A655-01 COSM4414734 c.205G>A p.E69K Substitution - Missense 5:172234224-172234224 - TCGA-CA-6717-01 COSM1436039 c.205G>T p.E69* Substitution - Nonsense 5:172234224-172234224 - TCGA-CD-A4MG-01 COSM3853734 c.530T>C p.M177T Substitution - Missense 5:172212005-172212005 - TCGA-BR-8487-01 COSM3853735 c.271G>A p.A91T Substitution - Missense 5:172234158-172234158 - TCGA-D8-A1Y1-01 COSM1486603 c.565C>T p.P189S Substitution - Missense 5:172211970-172211970 - TCGA-FS-A1ZW-06 COSM3614185 c.463C>T p.R155C Substitution - Missense 5:172212072-172212072 - LUAD-S01405 COSM399161 c.180A>G p.T60T Substitution - coding silent 5:172234249-172234249 - MEL-JWCI-WGS-24 COSM1167556 c.653_662del10 p.V218fs*2 Deletion - Frameshift 5:172211873-172211882 - TCGA-AP-A056-01 COSM449328 c.505C>T p.R169C Substitution - Missense 5:172212030-172212030 - RMS2030 COSM3853733 c.577C>T p.R193W Substitution - Missense 5:172211958-172211958 - TCGA-B5-A0JR-01 COSM1065853 c.253G>T p.D85Y Substitution - Missense 5:172234176-172234176 - 587316 COSM1231639 c.83G>A p.R28H Substitution - Missense 5:172234346-172234346 - TCGA-EJ-5530-01 COSM1132208 c.375G>A p.P125P Substitution - coding silent 5:172212160-172212160 - TCGA-AA-A010-01 COSM286264 c.539G>A p.R180Q Substitution - Missense 5:172211996-172211996 - CHC892T COSM4961046 c.307+1G>A p.? Unknown 5:172234121-172234121 - TCGA-AX-A0J1-01 COSM1065850 c.402C>T p.S134S Substitution - coding silent 5:172212133-172212133 - CN-AML-08-T COSM3683823 c.267A>G p.A89A Substitution - coding silent 5:172234162-172234162 - TCGA-DR-A0ZM-01 COSM462005 c.451G>C p.E151Q Substitution - Missense 5:172212084-172212084 - TCGA-EE-A3AC-06 COSM3614187 c.381C>T p.I127I Substitution - coding silent 5:172212154-172212154 - TCGA-09-1675-01 COSM1328908 c.468G>A p.L156L Substitution - coding silent 5:172212067-172212067 - TCGA-AP-A059-01 COSM1065854 c.239C>T p.A80V Substitution - Missense 5:172234190-172234190 - tumor_4130003 COSM5949943 c.270A>G p.Q90Q Substitution - coding silent 5:172234159-172234159 - TCGA-EI-6917-01 COSM286263 c.621C>T p.F207F Substitution - coding silent 5:172211914-172211914 - LUAD-S01315 COSM385697 c.630G>A p.L210L Substitution - coding silent 5:172211905-172211905 - PD4975a COSM3683823 c.267A>G p.A89A Substitution - coding silent 5:172234162-172234162 - YULAXER COSM1696757 c.472C>T p.L158F Substitution - Missense 5:172212063-172212063 - TCGA-HU-A4GH-01 COSM3853732 c.632A>T p.K211M Substitution - Missense 5:172211903-172211903 - T2955 COSM4738970 c.166G>C p.E56Q Substitution - Missense 5:172234263-172234263 - TCGA-D1-A17Q-01 COSM1065851 c.345A>C p.R115S Substitution - Missense 5:172212190-172212190 - LUAD-NYU947 COSM377073 c.165T>A p.D55E Substitution - Missense 5:172234264-172234264 - TCGA-BG-A0M4-01 COSM1065855 c.131C>A p.P44H Substitution - Missense 5:172234298-172234298 - TCGA-D1-A103-01 COSM1065852 c.319G>T p.E107* Substitution - Nonsense 5:172212216-172212216 - CSCC-11-T COSM4569399 c.172T>C p.W58R Substitution - Missense 5:172234257-172234257 - CHC892T COSM4961046 c.307+1G>A p.? Unknown 5:172234121-172234121 - TCGA-E2-A152-01 COSM449328 c.505C>T p.R169C Substitution - Missense 5:172212030-172212030 - TCGA-AA-A010-01 COSM286263 c.621C>T p.F207F Substitution - coding silent 5:172211914-172211914 - B88-Tumor COSM1754183 c.337G>C p.G113R Substitution - Missense 5:172212198-172212198 - TCGA-D3-A51R-06 COSM3614186 c.416T>A p.L139Q Substitution - Missense 5:172212119-172212119 - SNUH_G16_S1 COSM3683823 c.267A>G p.A89A Substitution - coding silent 5:172234162-172234162 - TCGA-D3-A1QA-06 COSM286263 c.621C>T p.F207F Substitution - coding silent 5:172211914-172211914 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.131563;Hs.131569;Hs.131570 5q35.1 610174

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A 3-UTRInsertion . c.702+1258dupT 5 171637579 HC ATAACCTGTA - Frameshift p.V218Efs*2 c.653_662delTACAGGTTAT 5 171638877 CM C A Missense p.D85Y c.253G>T 5 171661180 UCEC GA AT Missense p.I212N c.635_636delinsAT 5 171638903 CM G A IntronicSNV . c.71-20302C>T 5 171681664 CM G A IntronicSNV . c.71-20994C>T 5 171682356 CM G A IntronicSNV . c.71-21056C>T 5 171682418 CM G A Missense p.P189S c.565C>T 5 171638974 BRCA G A Missense p.R155C c.463C>T 5 171639076 CM G A Missense p.R169C c.505C>T 5 171639034 BRCA G A Synonymous p.F207F c.621C>T 5 171638918 CM G A Synonymous p.I127I c.381C>T 5 171639158 CM GC TG Missense p.R169P c.506_507delinsCA 5 171639032 LUAD T C Missense p.E137G c.410A>G 5 171639129 HNSC