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 7592102 7592102 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr17:7592102G>T c.136G>T c.(136-138)Gaa>Taa p.E46* BLCA 17 7592162 7592162 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr17:7592162G>A c.196G>A c.(196-198)Gag>Aag p.E66K BLCA 17 7592301 7592301 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:7592301G>A c.335G>A c.(334-336)aGc>aAc p.S112N BLCA 17 7592309 7592309 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr17:7592309G>A c.343G>A c.(343-345)Gaa>Aaa p.E115K BLCA 17 7604997 7604997 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr17:7604997C>T c.845C>T c.(844-846)tCg>tTg p.S282L BLCA 17 7606582 7606582 + Silent SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr17:7606582C>G c.1425C>G c.(1423-1425)ctC>ctG p.L475L BLCA 17 7606646 7606646 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr17:7606646G>T c.1489G>T c.(1489-1491)Gag>Tag p.E497* BRCA 17 7592245 7592245 + Silent SNP C C T TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr17:7592245C>T c.279C>T c.(277-279)atC>atT p.I93I BRCA 17 7606072 7606072 + Silent SNP C C A TCGA-A8-A09N-01A-11W-A019-09 TCGA-A8-A09N-10A-01W-A021-09 g.chr17:7606072C>A c.1176C>A c.(1174-1176)ctC>ctA p.L392L BRCA 17 7606399 7606399 + Missense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr17:7606399C>T c.1357C>T c.(1357-1359)Ccc>Tcc p.P453S BRCA 17 7606441 7606441 + Missense_Mutation SNP G G C TCGA-AO-A12F-01A-11D-A10Y-09 TCGA-AO-A12F-10A-01D-A110-09 g.chr17:7606441G>C c.1399G>C c.(1399-1401)Gtg>Ctg p.V467L CESC 17 7604112 7604112 + Nonsense_Mutation SNP T T A TCGA-EA-A411-01A-11D-A243-09 TCGA-EA-A411-10A-01D-A243-09 g.chr17:7604112T>A c.696T>A c.(694-696)taT>taA p.Y232* CHOL 17 7606344 7606344 + Silent SNP C C T TCGA-ZH-A8Y5-01A-11D-A417-09 TCGA-ZH-A8Y5-10A-01D-A41A-09 g.chr17:7606344C>T c.1302C>T c.(1300-1302)agC>agT p.S434S COAD 17 7592225 7592225 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:7592225A>G c.259A>G c.(259-261)Agt>Ggt p.S87G COAD 17 7606142 7606142 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr17:7606142C>T c.1246C>T c.(1246-1248)Cgc>Tgc p.R416C COAD 17 7606672 7606672 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:7606672G>A c.1515G>A c.(1513-1515)acG>acA p.T505T COAD 17 7606715 7606715 + Frame_Shift_Del DEL G G - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:7606715delG c.1558delG c.(1558-1560)gggfs p.G521fs COAD 17 7606803 7606803 + Stop_Codon_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:7606803delA COADREAD 17 7592225 7592225 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:7592225A>G c.259A>G c.(259-261)Agt>Ggt p.S87G COADREAD 17 7606142 7606142 + Missense_Mutation SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr17:7606142C>T c.1246C>T c.(1246-1248)Cgc>Tgc p.R416C COADREAD 17 7606153 7606153 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:7606153C>T c.1257C>T c.(1255-1257)ttC>ttT p.F419F COADREAD 17 7606672 7606672 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:7606672G>A c.1515G>A c.(1513-1515)acG>acA p.T505T COADREAD 17 7606715 7606715 + Frame_Shift_Del DEL G G - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:7606715delG c.1558delG c.(1558-1560)gggfs p.G521fs COADREAD 17 7606803 7606803 + Stop_Codon_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:7606803delA GBMLGG 17 7592042 7592042 + Missense_Mutation SNP T T C TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 g.chr17:7592042T>C c.76T>C c.(76-78)Tct>Cct p.S26P HNSC 17 7592167 7592167 + Silent SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 g.chr17:7592167A>G c.201A>G c.(199-201)ctA>ctG p.L67L HNSC 17 7604804 7604804 + Silent SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr17:7604804G>T c.759G>T c.(757-759)ccG>ccT p.P253P LGG 17 7592042 7592042 + Missense_Mutation SNP T T C TCGA-DU-7019-01A-11D-2024-08 TCGA-DU-7019-10A-01D-2024-08 g.chr17:7592042T>C c.76T>C c.(76-78)Tct>Cct p.S26P LUAD 17 7593016 7593016 + Silent SNP A A G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 g.chr17:7593016A>G c.639A>G c.(637-639)gaA>gaG p.E213E LUAD 17 7604137 7604137 + Missense_Mutation SNP G G C TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr17:7604137G>C c.721G>C c.(721-723)Gac>Cac p.D241H LUAD 17 7605728 7605728 + Missense_Mutation SNP C C T TCGA-NJ-A55A-01A-11D-A25L-08 TCGA-NJ-A55A-10A-01D-A25L-08 g.chr17:7605728C>T c.1022C>T c.(1021-1023)gCc>gTc p.A341V LUAD 17 7606072 7606072 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr17:7606072C>G c.1176C>G c.(1174-1176)ctC>ctG p.L392L LUAD 17 7606311 7606311 + Splice_Site SNP G G C TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr17:7606311G>C c.1269G>C c.(1267-1269)ccG>ccC p.P423P LUAD 17 7606341 7606341 + Silent SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr17:7606341G>T c.1299G>T c.(1297-1299)acG>acT p.T433T LUAD 17 7606575 7606575 + Missense_Mutation SNP T T G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr17:7606575T>G c.1418T>G c.(1417-1419)cTg>cGg p.L473R LUAD 17 7606724 7606724 + Missense_Mutation SNP C C G TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr17:7606724C>G c.1567C>G c.(1567-1569)Cca>Gca p.P523A LUAD 17 7606726 7606726 + Silent SNP A A T TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 g.chr17:7606726A>T c.1569A>T c.(1567-1569)ccA>ccT p.P523P LUSC 17 7592030 7592030 + Missense_Mutation SNP C C G TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr17:7592030C>G c.64C>G c.(64-66)Cca>Gca p.P22A LUSC 17 7606164 7606164 + Splice_Site SNP C C T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr17:7606164C>T c.1268C>T c.(1267-1269)cCg>cTg p.P423L READ 17 7606153 7606153 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:7606153C>T c.1257C>T c.(1255-1257)ttC>ttT p.F419F SARC 17 7592045 7592045 + Frame_Shift_Del DEL C C - TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 g.chr17:7592045delC c.79delC c.(79-81)cccfs p.P27fs SARC 17 7592062 7592062 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 g.chr17:7592062G>A c.96G>A c.(94-96)atG>atA p.M32I SARC 17 7592319 7592319 + Missense_Mutation SNP C C T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 g.chr17:7592319C>T c.353C>T c.(352-354)gCg>gTg p.A118V SARC 17 7592932 7592932 + Missense_Mutation SNP G G C TCGA-DX-A3UC-01A-11D-A307-09 TCGA-DX-A3UC-10A-01D-A307-09 g.chr17:7592932G>C c.555G>C c.(553-555)ttG>ttC p.L185F SARC 17 7606658 7606658 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr17:7606658C>T c.1501C>T c.(1501-1503)Ccc>Tcc p.P501S SKCM 17 7592120 7592120 + Missense_Mutation SNP C C T TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr17:7592120C>T c.154C>T c.(154-156)Cgg>Tgg p.R52W SKCM 17 7604071 7604071 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:7604071C>T c.655C>T c.(655-657)Cga>Tga p.R219* SKCM 17 7604846 7604846 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:7604846C>T c.801C>T c.(799-801)tcC>tcT p.S267S SKCM 17 7605007 7605007 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr17:7605007C>T c.855C>T c.(853-855)ttC>ttT p.F285F SKCM 17 7605023 7605023 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:7605023C>G c.871C>G c.(871-873)Cag>Gag p.Q291E SKCM 17 7605064 7605064 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr17:7605064C>T c.912C>T c.(910-912)tcC>tcT p.S304S SKCM 17 7605081 7605081 + Missense_Mutation SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr17:7605081G>A c.929G>A c.(928-930)cGa>cAa p.R310Q SKCM 17 7606599 7606599 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr17:7606599G>A c.1442G>A c.(1441-1443)gGt>gAt p.G481D

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 7606722 7606722 deletion of <=200bp C - 3_prime_UTR_variant BLCA-US 17 7606722 7606722 deletion of <=200bp C - downstream_gene_variant BLCA-US 17 7606722 7606722 deletion of <=200bp C - exon_variant BLCA-US 17 7606722 7606722 deletion of <=200bp C - frameshift_variant A489 BLCA-US 17 7606722 7606722 deletion of <=200bp C - frameshift_variant A522 BRCA-EU 17 7584651 7584651 single base substitution G A upstream_gene_variant BRCA-EU 17 7585228 7585228 single base substitution C T upstream_gene_variant BRCA-EU 17 7586450 7586450 single base substitution T C upstream_gene_variant BRCA-EU 17 7587360 7587360 single base substitution G T upstream_gene_variant BRCA-EU 17 7587925 7587925 single base substitution G C upstream_gene_variant BRCA-EU 17 7588333 7588333 single base substitution C T upstream_gene_variant BRCA-EU 17 7588671 7588671 single base substitution G A upstream_gene_variant BRCA-EU 17 7588877 7588877 single base substitution T A upstream_gene_variant BRCA-EU 17 7589149 7589149 single base substitution G A upstream_gene_variant BRCA-EU 17 7589589 7589589 single base substitution C G intron_variant BRCA-EU 17 7589589 7589589 single base substitution C G upstream_gene_variant BRCA-EU 17 7590694 7590694 single base substitution C A 5_prime_UTR_variant BRCA-EU 17 7590694 7590694 single base substitution C A intron_variant BRCA-EU 17 7590694 7590694 single base substitution C A upstream_gene_variant BRCA-EU 17 7591619 7591619 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 7591619 7591619 single base substitution G A intron_variant BRCA-EU 17 7591619 7591619 single base substitution G A upstream_gene_variant BRCA-EU 17 7593533 7593533 single base substitution C T intron_variant BRCA-EU 17 7593665 7593665 single base substitution G A intron_variant BRCA-EU 17 7594611 7594611 single base substitution G A intron_variant BRCA-EU 17 7594711 7594711 single base substitution T G intron_variant BRCA-EU 17 7594939 7594939 single base substitution G A intron_variant BRCA-EU 17 7595147 7595147 single base substitution G C intron_variant BRCA-EU 17 7597036 7597036 deletion of <=200bp A - intron_variant BRCA-EU 17 7597080 7597080 single base substitution T C intron_variant BRCA-EU 17 7597613 7597613 single base substitution G A intron_variant BRCA-EU 17 7597783 7597783 single base substitution A G intron_variant BRCA-EU 17 7600945 7600945 single base substitution C A intron_variant BRCA-EU 17 7600945 7600945 single base substitution C A upstream_gene_variant BRCA-EU 17 7604858 7604858 single base substitution C A exon_variant BRCA-EU 17 7604858 7604858 single base substitution C A stop_gained Y238* 714C>A BRCA-EU 17 7604858 7604858 single base substitution C A stop_gained Y271* 813C>A BRCA-EU 17 7604858 7604858 single base substitution C A upstream_gene_variant BRCA-EU 17 7606530 7606530 single base substitution C T intron_variant BRCA-EU 17 7608521 7608521 single base substitution G T downstream_gene_variant BRCA-EU 17 7609814 7609814 single base substitution T G downstream_gene_variant BRCA-EU 17 7611484 7611484 single base substitution C G downstream_gene_variant BRCA-EU 17 7611667 7611667 single base substitution C G downstream_gene_variant BRCA-FR 17 7585228 7585228 single base substitution C T upstream_gene_variant BRCA-FR 17 7591144 7591144 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 17 7591144 7591144 single base substitution C G intron_variant BRCA-FR 17 7591144 7591144 single base substitution C G upstream_gene_variant BRCA-FR 17 7594939 7594939 single base substitution G A intron_variant BRCA-FR 17 7595147 7595147 single base substitution G C intron_variant BRCA-FR 17 7611484 7611484 single base substitution C G downstream_gene_variant BRCA-FR 17 7611667 7611667 single base substitution C G downstream_gene_variant BRCA-UK 17 7589589 7589589 single base substitution C G intron_variant BRCA-UK 17 7589589 7589589 single base substitution C G upstream_gene_variant BRCA-US 17 7592245 7592245 single base substitution C T exon_variant BRCA-US 17 7592245 7592245 single base substitution C T synonymous_variant I93I 279C>T BRCA-US 17 7606072 7606072 single base substitution C A 3_prime_UTR_variant BRCA-US 17 7606072 7606072 single base substitution C A exon_variant BRCA-US 17 7606072 7606072 single base substitution C A synonymous_variant L359L 1077C>A BRCA-US 17 7606072 7606072 single base substitution C A synonymous_variant L392L 1176C>A BRCA-US 17 7606072 7606072 single base substitution C A upstream_gene_variant BRCA-US 17 7606399 7606399 single base substitution C T 3_prime_UTR_variant BRCA-US 17 7606399 7606399 single base substitution C T exon_variant BRCA-US 17 7606399 7606399 single base substitution C T missense_variant P420S 1258C>T BRCA-US 17 7606399 7606399 single base substitution C T missense_variant P453S 1357C>T BRCA-US 17 7606441 7606441 single base substitution G C 3_prime_UTR_variant BRCA-US 17 7606441 7606441 single base substitution G C exon_variant BRCA-US 17 7606441 7606441 single base substitution G C missense_variant V434L 1300G>C BRCA-US 17 7606441 7606441 single base substitution G C missense_variant V467L 1399G>C BRCA-US 17 7606714 7606714 insertion of <=200bp - G 3_prime_UTR_variant BRCA-US 17 7606714 7606714 insertion of <=200bp - G downstream_gene_variant BRCA-US 17 7606714 7606714 insertion of <=200bp - G exon_variant BRCA-US 17 7606714 7606714 insertion of <=200bp - G frameshift_variant C486W? BRCA-US 17 7606714 7606714 insertion of <=200bp - G frameshift_variant C519W? BRCA-US 17 7611466 7611466 single base substitution G A downstream_gene_variant BRCA-US 17 7611493 7611493 single base substitution A G downstream_gene_variant BTCA-JP 17 7592039 7592039 single base substitution C G exon_variant BTCA-JP 17 7592039 7592039 single base substitution C G missense_variant P25A 73C>G BTCA-JP 17 7592435 7592435 single base substitution G A intron_variant BTCA-JP 17 7605124 7605124 single base substitution C T exon_variant BTCA-JP 17 7605124 7605124 single base substitution C T intron_variant BTCA-JP 17 7605124 7605124 single base substitution C T upstream_gene_variant BTCA-JP 17 7605866 7605866 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 7605866 7605866 single base substitution G A exon_variant BTCA-JP 17 7605866 7605866 single base substitution G A intron_variant BTCA-JP 17 7605866 7605866 single base substitution G A missense_variant R354H 1061G>A BTCA-JP 17 7605866 7605866 single base substitution G A missense_variant R387H 1160G>A BTCA-JP 17 7605866 7605866 single base substitution G A upstream_gene_variant BTCA-JP 17 7606822 7606822 single base substitution T G downstream_gene_variant BTCA-JP 17 7608923 7608923 deletion of <=200bp C - downstream_gene_variant BTCA-JP 17 7611360 7611360 single base substitution C T downstream_gene_variant CESC-US 17 7604112 7604112 single base substitution T A exon_variant CESC-US 17 7604112 7604112 single base substitution T A stop_gained Y199* 597T>A CESC-US 17 7604112 7604112 single base substitution T A stop_gained Y232* 696T>A CESC-US 17 7604112 7604112 single base substitution T A upstream_gene_variant CLLE-ES 17 7602768 7602768 single base substitution A G intron_variant CLLE-ES 17 7602768 7602768 single base substitution A G upstream_gene_variant COAD-US 17 7592225 7592225 single base substitution A G exon_variant COAD-US 17 7592225 7592225 single base substitution A G missense_variant S87G 259A>G COAD-US 17 7592560 7592560 single base substitution C T exon_variant COAD-US 17 7592560 7592560 single base substitution C T intron_variant COAD-US 17 7592560 7592560 single base substitution C T synonymous_variant F150F 450C>T COAD-US 17 7606142 7606142 single base substitution C T 3_prime_UTR_variant COAD-US 17 7606142 7606142 single base substitution C T exon_variant COAD-US 17 7606142 7606142 single base substitution C T missense_variant R383C 1147C>T COAD-US 17 7606142 7606142 single base substitution C T missense_variant R416C 1246C>T COAD-US 17 7606142 7606142 single base substitution C T upstream_gene_variant COAD-US 17 7606715 7606715 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 17 7606715 7606715 deletion of <=200bp G - downstream_gene_variant COAD-US 17 7606715 7606715 deletion of <=200bp G - exon_variant COAD-US 17 7606715 7606715 deletion of <=200bp G - frameshift_variant G487 COAD-US 17 7606715 7606715 deletion of <=200bp G - frameshift_variant G520 COAD-US 17 7611406 7611406 deletion of <=200bp G - downstream_gene_variant COCA-CN 17 7591888 7591888 single base substitution C A 5_prime_UTR_variant COCA-CN 17 7591888 7591888 single base substitution C A intron_variant COCA-CN 17 7592083 7592083 single base substitution A G exon_variant COCA-CN 17 7592083 7592083 single base substitution A G synonymous_variant E39E 117A>G COCA-CN 17 7592177 7592177 single base substitution G A exon_variant COCA-CN 17 7592177 7592177 single base substitution G A missense_variant D71N 211G>A COCA-CN 17 7605355 7605355 single base substitution T G exon_variant COCA-CN 17 7605355 7605355 single base substitution T G intron_variant COCA-CN 17 7605355 7605355 single base substitution T G upstream_gene_variant COCA-CN 17 7605741 7605741 single base substitution C T 3_prime_UTR_variant COCA-CN 17 7605741 7605741 single base substitution C T exon_variant COCA-CN 17 7605741 7605741 single base substitution C T intron_variant COCA-CN 17 7605741 7605741 single base substitution C T synonymous_variant Y312Y 936C>T COCA-CN 17 7605741 7605741 single base substitution C T synonymous_variant Y345Y 1035C>T COCA-CN 17 7605741 7605741 single base substitution C T upstream_gene_variant COCA-CN 17 7608903 7608903 single base substitution G A downstream_gene_variant EOPC-DE 17 7604998 7604998 single base substitution G A 3_prime_UTR_variant EOPC-DE 17 7604998 7604998 single base substitution G A exon_variant EOPC-DE 17 7604998 7604998 single base substitution G A synonymous_variant S249S 747G>A EOPC-DE 17 7604998 7604998 single base substitution G A synonymous_variant S282S 846G>A EOPC-DE 17 7604998 7604998 single base substitution G A upstream_gene_variant ESAD-UK 17 7585592 7585592 single base substitution C T upstream_gene_variant ESAD-UK 17 7585596 7585596 single base substitution C T upstream_gene_variant ESAD-UK 17 7588124 7588128 deletion of <=200bp AAGAA - upstream_gene_variant ESAD-UK 17 7588938 7588938 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 7590694 7590694 single base substitution C T 5_prime_UTR_variant ESAD-UK 17 7590694 7590694 single base substitution C T intron_variant ESAD-UK 17 7590694 7590694 single base substitution C T upstream_gene_variant ESAD-UK 17 7591619 7591619 single base substitution G A 5_prime_UTR_variant ESAD-UK 17 7591619 7591619 single base substitution G A intron_variant ESAD-UK 17 7591619 7591619 single base substitution G A upstream_gene_variant ESAD-UK 17 7592742 7592742 single base substitution G A intron_variant ESAD-UK 17 7594152 7594152 single base substitution C T intron_variant ESAD-UK 17 7595348 7595348 insertion of <=200bp - G intron_variant ESAD-UK 17 7597286 7597286 single base substitution G A intron_variant ESAD-UK 17 7603868 7603868 single base substitution A T intron_variant ESAD-UK 17 7603868 7603868 single base substitution A T upstream_gene_variant ESAD-UK 17 7606715 7606715 deletion of <=200bp G - 3_prime_UTR_variant ESAD-UK 17 7606715 7606715 deletion of <=200bp G - downstream_gene_variant ESAD-UK 17 7606715 7606715 deletion of <=200bp G - exon_variant ESAD-UK 17 7606715 7606715 deletion of <=200bp G - frameshift_variant G487 ESAD-UK 17 7606715 7606715 deletion of <=200bp G - frameshift_variant G520 ESAD-UK 17 7610651 7610651 single base substitution T G downstream_gene_variant ESCA-CN 17 7604068 7604068 single base substitution C T exon_variant ESCA-CN 17 7604068 7604068 single base substitution C T missense_variant L185F 553C>T ESCA-CN 17 7604068 7604068 single base substitution C T missense_variant L218F 652C>T ESCA-CN 17 7604068 7604068 single base substitution C T upstream_gene_variant LAML-KR 17 7592168 7592168 single base substitution C G exon_variant LAML-KR 17 7592168 7592168 single base substitution C G missense_variant R68G 202C>G LAML-KR 17 7592560 7592560 single base substitution C T exon_variant LAML-KR 17 7592560 7592560 single base substitution C T intron_variant LAML-KR 17 7592560 7592560 single base substitution C T synonymous_variant F150F 450C>T LAML-KR 17 7600606 7600606 single base substitution T C intron_variant LAML-KR 17 7600606 7600606 single base substitution T C upstream_gene_variant LGG-US 17 7592042 7592042 single base substitution T C exon_variant LGG-US 17 7592042 7592042 single base substitution T C missense_variant S26P 76T>C LGG-US 17 7611424 7611424 single base substitution C T downstream_gene_variant LICA-CN 17 7606571 7606571 single base substitution A C 3_prime_UTR_variant LICA-CN 17 7606571 7606571 single base substitution A C exon_variant LICA-CN 17 7606571 7606571 single base substitution A C missense_variant S439R 1315A>C LICA-CN 17 7606571 7606571 single base substitution A C missense_variant S472R 1414A>C LICA-CN 17 7611470 7611470 single base substitution G A downstream_gene_variant LICA-FR 17 7584474 7584474 single base substitution A T upstream_gene_variant LICA-FR 17 7595665 7595665 single base substitution C T intron_variant LICA-FR 17 7598083 7598083 single base substitution C G intron_variant LICA-FR 17 7601635 7601635 single base substitution G A intron_variant LICA-FR 17 7601635 7601635 single base substitution G A upstream_gene_variant LICA-FR 17 7605743 7605743 single base substitution G A 3_prime_UTR_variant LICA-FR 17 7605743 7605743 single base substitution G A exon_variant LICA-FR 17 7605743 7605743 single base substitution G A intron_variant LICA-FR 17 7605743 7605743 single base substitution G A missense_variant G313D 938G>A LICA-FR 17 7605743 7605743 single base substitution G A missense_variant G346D 1037G>A LICA-FR 17 7605743 7605743 single base substitution G A upstream_gene_variant LINC-JP 17 7586026 7586026 single base substitution C G upstream_gene_variant LINC-JP 17 7592044 7592044 single base substitution T G exon_variant LINC-JP 17 7592044 7592044 single base substitution T G synonymous_variant S26S 78T>G LINC-JP 17 7608541 7608541 single base substitution G A downstream_gene_variant LIRI-JP 17 7588670 7588670 single base substitution T C upstream_gene_variant LIRI-JP 17 7593619 7593619 single base substitution A G intron_variant LIRI-JP 17 7598783 7598783 single base substitution G A intron_variant LIRI-JP 17 7600234 7600234 single base substitution G C intron_variant LIRI-JP 17 7600234 7600234 single base substitution G C upstream_gene_variant LIRI-JP 17 7604993 7604993 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 7604993 7604993 single base substitution C T exon_variant LIRI-JP 17 7604993 7604993 single base substitution C T missense_variant H248Y 742C>T LIRI-JP 17 7604993 7604993 single base substitution C T missense_variant H281Y 841C>T LIRI-JP 17 7604993 7604993 single base substitution C T upstream_gene_variant LUSC-KR 17 7584533 7584533 single base substitution A T upstream_gene_variant LUSC-KR 17 7584958 7584958 single base substitution C A upstream_gene_variant LUSC-KR 17 7585234 7585234 single base substitution C T upstream_gene_variant LUSC-KR 17 7585252 7585252 single base substitution C T upstream_gene_variant LUSC-KR 17 7585268 7585268 single base substitution C T upstream_gene_variant LUSC-KR 17 7592801 7592801 single base substitution C T intron_variant LUSC-KR 17 7593509 7593509 single base substitution C T intron_variant LUSC-KR 17 7599421 7599421 single base substitution G T intron_variant LUSC-KR 17 7602632 7602632 single base substitution G T intron_variant LUSC-KR 17 7602632 7602632 single base substitution G T upstream_gene_variant LUSC-US 17 7592030 7592030 single base substitution C G exon_variant LUSC-US 17 7592030 7592030 single base substitution C G missense_variant P22A 64C>G LUSC-US 17 7606164 7606164 single base substitution C T exon_variant LUSC-US 17 7606164 7606164 single base substitution C T missense_variant P390L 1169C>T LUSC-US 17 7606164 7606164 single base substitution C T missense_variant P423L 1268C>T LUSC-US 17 7606164 7606164 single base substitution C T splice_region_variant LUSC-US 17 7606164 7606164 single base substitution C T upstream_gene_variant MALY-DE 17 7587115 7587115 single base substitution C T upstream_gene_variant MALY-DE 17 7590283 7590283 single base substitution T C 5_prime_UTR_variant MALY-DE 17 7590283 7590283 single base substitution T C intron_variant MALY-DE 17 7590283 7590283 single base substitution T C upstream_gene_variant MALY-DE 17 7594528 7594535 deletion of <=200bp AAACAAAC - intron_variant MALY-DE 17 7601294 7601294 single base substitution T A intron_variant MALY-DE 17 7601294 7601294 single base substitution T A upstream_gene_variant MALY-DE 17 7610698 7610698 single base substitution G T downstream_gene_variant MALY-DE 17 7611366 7611366 single base substitution C A downstream_gene_variant MELA-AU 17 7585174 7585174 single base substitution C T upstream_gene_variant MELA-AU 17 7585492 7585492 single base substitution G A upstream_gene_variant MELA-AU 17 7586391 7586391 single base substitution G A upstream_gene_variant MELA-AU 17 7586483 7586483 single base substitution G A upstream_gene_variant MELA-AU 17 7588424 7588424 single base substitution G A upstream_gene_variant MELA-AU 17 7589279 7589279 single base substitution G A upstream_gene_variant MELA-AU 17 7589476 7589477 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 17 7589476 7589477 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 7589783 7589784 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 17 7589783 7589784 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 7589783 7589784 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 7590858 7590858 single base substitution C T 5_prime_UTR_variant MELA-AU 17 7590858 7590858 single base substitution C T intron_variant MELA-AU 17 7590858 7590858 single base substitution C T upstream_gene_variant MELA-AU 17 7590884 7590885 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 17 7590884 7590885 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 7590884 7590885 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 7591560 7591560 single base substitution G A 5_prime_UTR_variant MELA-AU 17 7591560 7591560 single base substitution G A intron_variant MELA-AU 17 7591560 7591560 single base substitution G A upstream_gene_variant MELA-AU 17 7591625 7591625 single base substitution C T 5_prime_UTR_variant MELA-AU 17 7591625 7591625 single base substitution C T intron_variant MELA-AU 17 7591625 7591625 single base substitution C T upstream_gene_variant MELA-AU 17 7591647 7591647 single base substitution G A 5_prime_UTR_variant MELA-AU 17 7591647 7591647 single base substitution G A intron_variant MELA-AU 17 7591647 7591647 single base substitution G A upstream_gene_variant MELA-AU 17 7591883 7591883 single base substitution G A 5_prime_UTR_variant MELA-AU 17 7591883 7591883 single base substitution G A intron_variant MELA-AU 17 7592722 7592722 single base substitution C G intron_variant MELA-AU 17 7592724 7592724 single base substitution C G intron_variant MELA-AU 17 7593367 7593367 single base substitution A T intron_variant MELA-AU 17 7593861 7593861 single base substitution C T intron_variant MELA-AU 17 7595685 7595685 single base substitution C T intron_variant MELA-AU 17 7596473 7596473 single base substitution C T intron_variant MELA-AU 17 7598031 7598031 single base substitution A T intron_variant MELA-AU 17 7598369 7598369 single base substitution C T intron_variant MELA-AU 17 7598776 7598776 single base substitution C T intron_variant MELA-AU 17 7599073 7599073 single base substitution C T intron_variant MELA-AU 17 7599341 7599341 single base substitution C T intron_variant MELA-AU 17 7599483 7599483 single base substitution C G intron_variant MELA-AU 17 7599510 7599510 single base substitution C T intron_variant MELA-AU 17 7599657 7599657 single base substitution C T intron_variant MELA-AU 17 7599726 7599726 single base substitution C T intron_variant MELA-AU 17 7599912 7599912 single base substitution G A intron_variant MELA-AU 17 7600607 7600607 single base substitution C T intron_variant MELA-AU 17 7600607 7600607 single base substitution C T upstream_gene_variant MELA-AU 17 7600864 7600864 single base substitution C T intron_variant MELA-AU 17 7600864 7600864 single base substitution C T upstream_gene_variant MELA-AU 17 7601704 7601704 single base substitution C T intron_variant MELA-AU 17 7601704 7601704 single base substitution C T upstream_gene_variant MELA-AU 17 7603176 7603176 single base substitution C T intron_variant MELA-AU 17 7603176 7603176 single base substitution C T upstream_gene_variant MELA-AU 17 7603259 7603259 single base substitution C T intron_variant MELA-AU 17 7603259 7603259 single base substitution C T upstream_gene_variant MELA-AU 17 7603268 7603268 single base substitution C T intron_variant MELA-AU 17 7603268 7603268 single base substitution C T upstream_gene_variant MELA-AU 17 7604020 7604020 single base substitution C T intron_variant MELA-AU 17 7604020 7604020 single base substitution C T upstream_gene_variant MELA-AU 17 7604172 7604172 single base substitution C T intron_variant MELA-AU 17 7604172 7604172 single base substitution C T upstream_gene_variant MELA-AU 17 7605648 7605648 single base substitution C T exon_variant MELA-AU 17 7605648 7605648 single base substitution C T intron_variant MELA-AU 17 7605648 7605648 single base substitution C T upstream_gene_variant MELA-AU 17 7605864 7605864 single base substitution C T 3_prime_UTR_variant MELA-AU 17 7605864 7605864 single base substitution C T exon_variant MELA-AU 17 7605864 7605864 single base substitution C T intron_variant MELA-AU 17 7605864 7605864 single base substitution C T synonymous_variant A353A 1059C>T MELA-AU 17 7605864 7605864 single base substitution C T synonymous_variant A386A 1158C>T MELA-AU 17 7605864 7605864 single base substitution C T upstream_gene_variant MELA-AU 17 7605972 7605972 single base substitution C T exon_variant MELA-AU 17 7605972 7605972 single base substitution C T intron_variant MELA-AU 17 7605972 7605972 single base substitution C T upstream_gene_variant MELA-AU 17 7606153 7606153 single base substitution C T 3_prime_UTR_variant MELA-AU 17 7606153 7606153 single base substitution C T exon_variant MELA-AU 17 7606153 7606153 single base substitution C T synonymous_variant F386F 1158C>T MELA-AU 17 7606153 7606153 single base substitution C T synonymous_variant F419F 1257C>T MELA-AU 17 7606153 7606153 single base substitution C T upstream_gene_variant MELA-AU 17 7606302 7606302 single base substitution C T exon_variant MELA-AU 17 7606302 7606302 single base substitution C T intron_variant MELA-AU 17 7606976 7606976 single base substitution G A downstream_gene_variant MELA-AU 17 7608204 7608204 single base substitution G C downstream_gene_variant MELA-AU 17 7608458 7608458 single base substitution C T downstream_gene_variant MELA-AU 17 7609322 7609323 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 7609433 7609433 single base substitution G A downstream_gene_variant MELA-AU 17 7609529 7609529 single base substitution C T downstream_gene_variant MELA-AU 17 7609684 7609684 single base substitution C T downstream_gene_variant MELA-AU 17 7609702 7609702 single base substitution G A downstream_gene_variant MELA-AU 17 7609823 7609823 single base substitution G A downstream_gene_variant MELA-AU 17 7610201 7610202 deletion of <=200bp CT - downstream_gene_variant MELA-AU 17 7610406 7610406 single base substitution G A downstream_gene_variant MELA-AU 17 7610444 7610444 single base substitution G A downstream_gene_variant MELA-AU 17 7610584 7610584 single base substitution C G downstream_gene_variant MELA-AU 17 7610743 7610743 single base substitution T C downstream_gene_variant MELA-AU 17 7611047 7611047 single base substitution G A downstream_gene_variant MELA-AU 17 7611187 7611187 single base substitution C T downstream_gene_variant MELA-AU 17 7611637 7611637 single base substitution C T downstream_gene_variant MELA-AU 17 7611732 7611732 single base substitution C T downstream_gene_variant ORCA-IN 17 7585117 7585117 deletion of <=200bp T - upstream_gene_variant ORCA-IN 17 7586422 7586422 insertion of <=200bp - T upstream_gene_variant ORCA-IN 17 7586423 7586423 deletion of <=200bp T - upstream_gene_variant ORCA-IN 17 7598133 7598133 single base substitution G A intron_variant ORCA-IN 17 7606719 7606719 single base substitution G A 3_prime_UTR_variant ORCA-IN 17 7606719 7606719 single base substitution G A downstream_gene_variant ORCA-IN 17 7606719 7606719 single base substitution G A exon_variant ORCA-IN 17 7606719 7606719 single base substitution G A missense_variant G488E 1463G>A ORCA-IN 17 7606719 7606719 single base substitution G A missense_variant G521E 1562G>A OV-AU 17 7584670 7584670 single base substitution G A upstream_gene_variant OV-AU 17 7584672 7584672 single base substitution G A upstream_gene_variant OV-AU 17 7585631 7585631 single base substitution C G upstream_gene_variant OV-AU 17 7590828 7590828 single base substitution C A 5_prime_UTR_variant OV-AU 17 7590828 7590828 single base substitution C A intron_variant OV-AU 17 7590828 7590828 single base substitution C A upstream_gene_variant OV-AU 17 7592995 7592995 single base substitution G T exon_variant OV-AU 17 7592995 7592995 single base substitution G T synonymous_variant G173G 519G>T OV-AU 17 7592995 7592995 single base substitution G T synonymous_variant G206G 618G>T OV-AU 17 7598654 7598654 single base substitution C G intron_variant OV-AU 17 7600312 7600312 single base substitution C G intron_variant OV-AU 17 7600312 7600312 single base substitution C G upstream_gene_variant OV-AU 17 7607121 7607121 single base substitution G C downstream_gene_variant PACA-AU 17 7590689 7590692 deletion of <=200bp GCTT - 5_prime_UTR_variant PACA-AU 17 7590689 7590692 deletion of <=200bp GCTT - intron_variant PACA-AU 17 7590689 7590692 deletion of <=200bp GCTT - upstream_gene_variant PACA-AU 17 7594549 7594549 single base substitution A C intron_variant PACA-AU 17 7603752 7603752 single base substitution C G intron_variant PACA-AU 17 7603752 7603752 single base substitution C G upstream_gene_variant PACA-AU 17 7604359 7604359 single base substitution C A intron_variant PACA-AU 17 7604359 7604359 single base substitution C A upstream_gene_variant PACA-CA 17 7589693 7589693 single base substitution C T 5_prime_UTR_variant PACA-CA 17 7589693 7589693 single base substitution C T intron_variant PACA-CA 17 7589693 7589693 single base substitution C T upstream_gene_variant PACA-CA 17 7590692 7590692 single base substitution T A 5_prime_UTR_variant PACA-CA 17 7590692 7590692 single base substitution T A intron_variant PACA-CA 17 7590692 7590692 single base substitution T A upstream_gene_variant PACA-CA 17 7590846 7590855 deletion of <=200bp GAGGGGAAAA - 5_prime_UTR_variant PACA-CA 17 7590846 7590855 deletion of <=200bp GAGGGGAAAA - intron_variant PACA-CA 17 7590846 7590855 deletion of <=200bp GAGGGGAAAA - upstream_gene_variant PACA-CA 17 7590862 7590868 deletion of <=200bp TCCCATC - 5_prime_UTR_variant PACA-CA 17 7590862 7590868 deletion of <=200bp TCCCATC - intron_variant PACA-CA 17 7590862 7590868 deletion of <=200bp TCCCATC - upstream_gene_variant PACA-CA 17 7590869 7590869 insertion of <=200bp - G 5_prime_UTR_variant PACA-CA 17 7590869 7590869 insertion of <=200bp - G intron_variant PACA-CA 17 7590869 7590869 insertion of <=200bp - G upstream_gene_variant PACA-CA 17 7590871 7590873 deletion of <=200bp CCC - 5_prime_UTR_variant PACA-CA 17 7590871 7590873 deletion of <=200bp CCC - intron_variant PACA-CA 17 7590871 7590873 deletion of <=200bp CCC - upstream_gene_variant PACA-CA 17 7592703 7592703 single base substitution G A intron_variant PACA-CA 17 7593035 7593035 single base substitution A C intron_variant PACA-CA 17 7593482 7593482 single base substitution A G intron_variant PACA-CA 17 7595280 7595280 single base substitution G C intron_variant PACA-CA 17 7604877 7604877 single base substitution G A intron_variant PACA-CA 17 7604877 7604877 single base substitution G A upstream_gene_variant PAEN-AU 17 7593025 7593025 single base substitution G A splice_region_variant PAEN-AU 17 7611545 7611545 single base substitution C A downstream_gene_variant PBCA-DE 17 7603384 7603384 single base substitution T G intron_variant PBCA-DE 17 7603384 7603384 single base substitution T G upstream_gene_variant PBCA-DE 17 7607404 7607404 single base substitution C T downstream_gene_variant PRAD-CA 17 7596010 7596010 single base substitution C T intron_variant PRAD-UK 17 7586313 7586313 single base substitution T A upstream_gene_variant READ-US 17 7592542 7592542 single base substitution C T intron_variant READ-US 17 7592542 7592542 single base substitution C T splice_region_variant RECA-EU 17 7584658 7584658 single base substitution T G upstream_gene_variant SKCA-BR 17 7584515 7584515 single base substitution A G upstream_gene_variant SKCA-BR 17 7586596 7586596 single base substitution A T upstream_gene_variant SKCA-BR 17 7587999 7587999 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 17 7595457 7595457 single base substitution C A intron_variant SKCA-BR 17 7598120 7598120 single base substitution T C intron_variant SKCA-BR 17 7600576 7600576 single base substitution T G intron_variant SKCA-BR 17 7600576 7600576 single base substitution T G upstream_gene_variant SKCA-BR 17 7601053 7601053 single base substitution G A intron_variant SKCA-BR 17 7601053 7601053 single base substitution G A upstream_gene_variant SKCA-BR 17 7602784 7602840 deletion of <=200bp ATATATATATTTATATATATATATATATATATATATTTATATATATATATATATATT - intron_variant SKCA-BR 17 7602784 7602840 deletion of <=200bp ATATATATATTTATATATATATATATATATATATATTTATATATATATATATATATT - upstream_gene_variant SKCA-BR 17 7602800 7602800 single base substitution A T intron_variant SKCA-BR 17 7602800 7602800 single base substitution A T upstream_gene_variant SKCA-BR 17 7602800 7602820 deletion of <=200bp ATATATATATATATATATATT - intron_variant SKCA-BR 17 7602800 7602820 deletion of <=200bp ATATATATATATATATATATT - upstream_gene_variant SKCA-BR 17 7602800 7602840 deletion of <=200bp ATATATATATATATATATATTTATATATATATATATATATT - intron_variant SKCA-BR 17 7602800 7602840 deletion of <=200bp ATATATATATATATATATATTTATATATATATATATATATT - upstream_gene_variant SKCA-BR 17 7602802 7602820 deletion of <=200bp ATATATATATATATATATT - intron_variant SKCA-BR 17 7602802 7602820 deletion of <=200bp ATATATATATATATATATT - upstream_gene_variant SKCA-BR 17 7602818 7602818 insertion of <=200bp - ATATATATATT intron_variant SKCA-BR 17 7602818 7602818 insertion of <=200bp - ATATATATATT upstream_gene_variant SKCA-BR 17 7602820 7602820 single base substitution T A intron_variant SKCA-BR 17 7602820 7602820 single base substitution T A upstream_gene_variant SKCA-BR 17 7602838 7602840 deletion of <=200bp ATT - intron_variant SKCA-BR 17 7602838 7602840 deletion of <=200bp ATT - upstream_gene_variant SKCA-BR 17 7603791 7603791 single base substitution C A intron_variant SKCA-BR 17 7603791 7603791 single base substitution C A upstream_gene_variant SKCA-BR 17 7604061 7604061 single base substitution C T splice_region_variant SKCA-BR 17 7604061 7604061 single base substitution C T upstream_gene_variant SKCA-BR 17 7604471 7604471 single base substitution A G intron_variant SKCA-BR 17 7604471 7604471 single base substitution A G upstream_gene_variant SKCA-BR 17 7605398 7605398 single base substitution C T exon_variant SKCA-BR 17 7605398 7605398 single base substitution C T intron_variant SKCA-BR 17 7605398 7605398 single base substitution C T upstream_gene_variant SKCA-BR 17 7606050 7606050 single base substitution C T exon_variant SKCA-BR 17 7606050 7606050 single base substitution C T intron_variant SKCA-BR 17 7606050 7606050 single base substitution C T upstream_gene_variant SKCA-BR 17 7606566 7606566 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 7606566 7606566 single base substitution A C exon_variant SKCA-BR 17 7606566 7606566 single base substitution A C missense_variant H437P 1310A>C SKCA-BR 17 7606566 7606566 single base substitution A C missense_variant H470P 1409A>C SKCA-BR 17 7608375 7608375 single base substitution T G downstream_gene_variant SKCA-BR 17 7610853 7610853 single base substitution G A downstream_gene_variant SKCM-US 17 7592120 7592120 single base substitution C T exon_variant SKCM-US 17 7592120 7592120 single base substitution C T missense_variant R52W 154C>T SKCM-US 17 7604071 7604071 single base substitution C T exon_variant SKCM-US 17 7604071 7604071 single base substitution C T stop_gained R186* 556C>T SKCM-US 17 7604071 7604071 single base substitution C T stop_gained R219* 655C>T SKCM-US 17 7604071 7604071 single base substitution C T upstream_gene_variant SKCM-US 17 7604846 7604846 single base substitution C T exon_variant SKCM-US 17 7604846 7604846 single base substitution C T synonymous_variant S234S 702C>T SKCM-US 17 7604846 7604846 single base substitution C T synonymous_variant S267S 801C>T SKCM-US 17 7604846 7604846 single base substitution C T upstream_gene_variant SKCM-US 17 7605007 7605007 single base substitution C T 3_prime_UTR_variant SKCM-US 17 7605007 7605007 single base substitution C T exon_variant SKCM-US 17 7605007 7605007 single base substitution C T synonymous_variant F252F 756C>T SKCM-US 17 7605007 7605007 single base substitution C T synonymous_variant F285F 855C>T SKCM-US 17 7605007 7605007 single base substitution C T upstream_gene_variant SKCM-US 17 7605013 7605013 single base substitution G A 3_prime_UTR_variant SKCM-US 17 7605013 7605013 single base substitution G A exon_variant SKCM-US 17 7605013 7605013 single base substitution G A synonymous_variant P254P 762G>A SKCM-US 17 7605013 7605013 single base substitution G A synonymous_variant P287P 861G>A SKCM-US 17 7605013 7605013 single base substitution G A upstream_gene_variant SKCM-US 17 7605064 7605064 single base substitution C T 3_prime_UTR_variant SKCM-US 17 7605064 7605064 single base substitution C T exon_variant SKCM-US 17 7605064 7605064 single base substitution C T synonymous_variant S271S 813C>T SKCM-US 17 7605064 7605064 single base substitution C T synonymous_variant S304S 912C>T SKCM-US 17 7605064 7605064 single base substitution C T upstream_gene_variant SKCM-US 17 7605081 7605081 single base substitution G A 3_prime_UTR_variant SKCM-US 17 7605081 7605081 single base substitution G A exon_variant SKCM-US 17 7605081 7605081 single base substitution G A missense_variant R277Q 830G>A SKCM-US 17 7605081 7605081 single base substitution G A missense_variant R310Q 929G>A SKCM-US 17 7605081 7605081 single base substitution G A upstream_gene_variant SKCM-US 17 7605836 7605836 single base substitution C T 3_prime_UTR_variant SKCM-US 17 7605836 7605836 single base substitution C T exon_variant SKCM-US 17 7605836 7605836 single base substitution C T intron_variant SKCM-US 17 7605836 7605836 single base substitution C T missense_variant P344L 1031C>T SKCM-US 17 7605836 7605836 single base substitution C T missense_variant P377L 1130C>T SKCM-US 17 7605836 7605836 single base substitution C T upstream_gene_variant SKCM-US 17 7606160 7606160 single base substitution G A 3_prime_UTR_variant SKCM-US 17 7606160 7606160 single base substitution G A exon_variant SKCM-US 17 7606160 7606160 single base substitution G A missense_variant D389N 1165G>A SKCM-US 17 7606160 7606160 single base substitution G A missense_variant D422N 1264G>A SKCM-US 17 7606160 7606160 single base substitution G A upstream_gene_variant SKCM-US 17 7606599 7606599 single base substitution G A 3_prime_UTR_variant SKCM-US 17 7606599 7606599 single base substitution G A exon_variant SKCM-US 17 7606599 7606599 single base substitution G A missense_variant G448D 1343G>A SKCM-US 17 7606599 7606599 single base substitution G A missense_variant G481D 1442G>A SKCM-US 17 7606722 7606722 deletion of <=200bp C - 3_prime_UTR_variant SKCM-US 17 7606722 7606722 deletion of <=200bp C - downstream_gene_variant SKCM-US 17 7606722 7606722 deletion of <=200bp C - exon_variant SKCM-US 17 7606722 7606722 deletion of <=200bp C - frameshift_variant A489 SKCM-US 17 7606722 7606722 deletion of <=200bp C - frameshift_variant A522 SKCM-US 17 7608921 7608921 single base substitution G A downstream_gene_variant SKCM-US 17 7608943 7608943 single base substitution G A downstream_gene_variant SKCM-US 17 7611307 7611307 single base substitution C T downstream_gene_variant SKCM-US 17 7611328 7611328 single base substitution G A downstream_gene_variant SKCM-US 17 7611341 7611341 single base substitution C T downstream_gene_variant SKCM-US 17 7611369 7611369 single base substitution C T downstream_gene_variant SKCM-US 17 7611453 7611453 single base substitution C T downstream_gene_variant SKCM-US 17 7611794 7611794 single base substitution G A downstream_gene_variant STAD-US 17 7592173 7592173 deletion of <=200bp G - exon_variant STAD-US 17 7592173 7592173 deletion of <=200bp G - frameshift_variant E69 STAD-US 17 7604072 7604072 single base substitution G A exon_variant STAD-US 17 7604072 7604072 single base substitution G A missense_variant R186Q 557G>A STAD-US 17 7604072 7604072 single base substitution G A missense_variant R219Q 656G>A STAD-US 17 7604072 7604072 single base substitution G A upstream_gene_variant STAD-US 17 7604143 7604143 single base substitution T G exon_variant STAD-US 17 7604143 7604143 single base substitution T G missense_variant S210A 628T>G STAD-US 17 7604143 7604143 single base substitution T G missense_variant S243A 727T>G STAD-US 17 7604143 7604143 single base substitution T G upstream_gene_variant STAD-US 17 7604986 7604986 single base substitution G A 3_prime_UTR_variant STAD-US 17 7604986 7604986 single base substitution G A exon_variant STAD-US 17 7604986 7604986 single base substitution G A synonymous_variant T245T 735G>A STAD-US 17 7604986 7604986 single base substitution G A synonymous_variant T278T 834G>A STAD-US 17 7604986 7604986 single base substitution G A upstream_gene_variant STAD-US 17 7604990 7604990 single base substitution G A 3_prime_UTR_variant STAD-US 17 7604990 7604990 single base substitution G A exon_variant STAD-US 17 7604990 7604990 single base substitution G A missense_variant A247T 739G>A STAD-US 17 7604990 7604990 single base substitution G A missense_variant A280T 838G>A STAD-US 17 7604990 7604990 single base substitution G A upstream_gene_variant STAD-US 17 7605096 7605096 single base substitution G A 3_prime_UTR_variant STAD-US 17 7605096 7605096 single base substitution G A exon_variant STAD-US 17 7605096 7605096 single base substitution G A missense_variant R282Q 845G>A STAD-US 17 7605096 7605096 single base substitution G A missense_variant R315Q 944G>A STAD-US 17 7605096 7605096 single base substitution G A upstream_gene_variant STAD-US 17 7606715 7606715 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 17 7606715 7606715 deletion of <=200bp G - downstream_gene_variant STAD-US 17 7606715 7606715 deletion of <=200bp G - exon_variant STAD-US 17 7606715 7606715 deletion of <=200bp G - frameshift_variant G487 STAD-US 17 7606715 7606715 deletion of <=200bp G - frameshift_variant G520 STAD-US 17 7606723 7606723 single base substitution G C 3_prime_UTR_variant STAD-US 17 7606723 7606723 single base substitution G C downstream_gene_variant STAD-US 17 7606723 7606723 single base substitution G C exon_variant STAD-US 17 7606723 7606723 single base substitution G C synonymous_variant A489A 1467G>C STAD-US 17 7606723 7606723 single base substitution G C synonymous_variant A522A 1566G>C STAD-US 17 7611436 7611436 deletion of <=200bp C - downstream_gene_variant STAD-US 17 7611470 7611470 single base substitution G A downstream_gene_variant STAD-US 17 7611542 7611542 single base substitution G A downstream_gene_variant STAD-US 17 7611546 7611546 single base substitution G T downstream_gene_variant THCA-US 17 7592188 7592188 single base substitution T C exon_variant THCA-US 17 7592188 7592188 single base substitution T C synonymous_variant S74S 222T>C THCA-US 17 7604998 7604998 single base substitution G A 3_prime_UTR_variant THCA-US 17 7604998 7604998 single base substitution G A exon_variant THCA-US 17 7604998 7604998 single base substitution G A synonymous_variant S249S 747G>A THCA-US 17 7604998 7604998 single base substitution G A synonymous_variant S282S 846G>A THCA-US 17 7604998 7604998 single base substitution G A upstream_gene_variant UCEC-US 17 7592187 7592187 single base substitution C A exon_variant UCEC-US 17 7592187 7592187 single base substitution C A missense_variant S74Y 221C>A UCEC-US 17 7592200 7592200 single base substitution C T exon_variant UCEC-US 17 7592200 7592200 single base substitution C T synonymous_variant P78P 234C>T UCEC-US 17 7592395 7592395 single base substitution C T splice_region_variant UCEC-US 17 7592917 7592917 single base substitution C T exon_variant UCEC-US 17 7592917 7592917 single base substitution C T synonymous_variant D147D 441C>T UCEC-US 17 7592917 7592917 single base substitution C T synonymous_variant D180D 540C>T UCEC-US 17 7604841 7604841 single base substitution G A exon_variant UCEC-US 17 7604841 7604841 single base substitution G A missense_variant A233T 697G>A UCEC-US 17 7604841 7604841 single base substitution G A missense_variant A266T 796G>A UCEC-US 17 7604841 7604841 single base substitution G A upstream_gene_variant UCEC-US 17 7605180 7605180 single base substitution C T exon_variant UCEC-US 17 7605180 7605180 single base substitution C T intron_variant UCEC-US 17 7605180 7605180 single base substitution C T upstream_gene_variant UCEC-US 17 7605346 7605346 single base substitution T C exon_variant UCEC-US 17 7605346 7605346 single base substitution T C intron_variant UCEC-US 17 7605346 7605346 single base substitution T C upstream_gene_variant UCEC-US 17 7605707 7605707 single base substitution G T 3_prime_UTR_variant UCEC-US 17 7605707 7605707 single base substitution G T exon_variant UCEC-US 17 7605707 7605707 single base substitution G T intron_variant UCEC-US 17 7605707 7605707 single base substitution G T missense_variant S301I 902G>T UCEC-US 17 7605707 7605707 single base substitution G T missense_variant S334I 1001G>T UCEC-US 17 7605707 7605707 single base substitution G T upstream_gene_variant UCEC-US 17 7606399 7606399 single base substitution C T 3_prime_UTR_variant UCEC-US 17 7606399 7606399 single base substitution C T exon_variant UCEC-US 17 7606399 7606399 single base substitution C T missense_variant P420S 1258C>T UCEC-US 17 7606399 7606399 single base substitution C T missense_variant P453S 1357C>T UCEC-US 17 7606422 7606422 single base substitution G A 3_prime_UTR_variant UCEC-US 17 7606422 7606422 single base substitution G A exon_variant UCEC-US 17 7606422 7606422 single base substitution G A synonymous_variant Q427Q 1281G>A UCEC-US 17 7606422 7606422 single base substitution G A synonymous_variant Q460Q 1380G>A UCEC-US 17 7606776 7606776 single base substitution C T 3_prime_UTR_variant UCEC-US 17 7606776 7606776 single base substitution C T downstream_gene_variant UCEC-US 17 7606776 7606776 single base substitution C T exon_variant UCEC-US 17 7606776 7606776 single base substitution C T missense_variant T507M 1520C>T UCEC-US 17 7606776 7606776 single base substitution C T missense_variant T540M 1619C>T UCEC-US 17 7611412 7611412 single base substitution G A downstream_gene_variant UCEC-US 17 7611772 7611772 single base substitution G A downstream_gene_variant UCEC-US 17 7611805 7611805 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A0LM-01 COSM984994 c.221C>A p.S74Y Substitution - Missense 17:7688869-7688869 + 217 COSM4424767 c.629_630insA p.Y211fs*14 Insertion - Frameshift 17:7689688-7689689 + TCGA-BH-A0HF-01 COSM985008 c.1357C>T p.P453S Substitution - Missense 17:7703081-7703081 + CHOL13 COSM1744751 c.59C>T p.P20L Substitution - Missense 17:7688707-7688707 + TCGA-EL-A4JZ-01 COSM3370930 c.222T>C p.S74S Substitution - coding silent 17:7688870-7688870 + STC297 COSM5055815 c.1557_1558insG p.A522fs*8 Insertion - Frameshift 17:7703396-7703397 + Pat_28_B COSM5853617 c.1519C>T p.H507Y Substitution - Missense 17:7703358-7703358 + CN-AML-08-T COSM148182 c.450C>T p.F150F Substitution - coding silent 17:7689242-7689242 + HCC042T COSM5823678 c.1414A>C p.S472R Substitution - Missense 17:7703253-7703253 + T3262 COSM1386964 c.1565delC p.A522fs*26 Deletion - Frameshift 17:7703404-7703404 + LUAD-VUMN6 COSM347891 c.1486G>C p.E496Q Substitution - Missense 17:7703325-7703325 + TCGA-B5-A0JY-01 COSM984997 c.540C>T p.D180D Substitution - coding silent 17:7689599-7689599 + TCGA-EJ-7125-01 COSM3672596 c.1303G>T p.G435W Substitution - Missense 17:7703027-7703027 + 3006_T COSM3958858 c.1494G>T p.L498L Substitution - coding silent 17:7703333-7703333 + SCMC_RM2_ COSM4418061 c.202C>G p.R68G Substitution - Missense 17:7688850-7688850 + TCGA-EI-6882-01 COSM3421940 c.432C>T p.T144T Substitution - coding silent 17:7689224-7689224 + RH18C COSM4418061 c.202C>G p.R68G Substitution - Missense 17:7688850-7688850 + TCGA-EE-A3AG-06 COSM3522736 c.912C>T p.S304S Substitution - coding silent 17:7701746-7701746 + PT48 COSM5933680 c.1207C>T p.P403S Substitution - Missense 17:7702785-7702785 + CN-AML-08-T COSM4418061 c.202C>G p.R68G Substitution - Missense 17:7688850-7688850 + TCGA-AG-A020-01 COSM5055815 c.1557_1558insG p.A522fs*8 Insertion - Frameshift 17:7703396-7703397 + TCGA-BR-8487-01 COSM4070086 c.944G>A p.R315Q Substitution - Missense 17:7701778-7701778 + WA47 COSM238448 c.144G>C p.G48G Substitution - coding silent 17:7688792-7688792 + TCGA-BR-8078-01 COSM4070087 c.1566G>C p.A522A Substitution - coding silent 17:7703405-7703405 + TCGA-AG-A002-01 COSM264709 c.1257C>T p.F419F Substitution - coding silent 17:7702835-7702835 + CSCC-10-T COSM4468083 c.1524C>T p.V508V Substitution - coding silent 17:7703363-7703363 + Pat_46_A COSM5853616 c.817C>T p.H273Y Substitution - Missense 17:7701544-7701544 + CN-AML-NR-08-Dx COSM4418061 c.202C>G p.R68G Substitution - Missense 17:7688850-7688850 + RH30SJ_ COSM4418061 c.202C>G p.R68G Substitution - Missense 17:7688850-7688850 + AOCS-167-16-X COSM4139894 c.618G>T p.G206G Substitution - coding silent 17:7689677-7689677 + TCGA-EB-A24D-01 COSM3522743 c.1264G>A p.D422N Substitution - Missense 17:7702842-7702842 + 67 COSM5744188 c.1223G>T p.G408V Substitution - Missense 17:7702801-7702801 + SNUH_G76_S1 COSM148182 c.450C>T p.F150F Substitution - coding silent 17:7689242-7689242 + pfg181T COSM4765035 c.1558_1559insG p.A522fs*8 Insertion - Frameshift 17:7703397-7703398 + OSCC-GB_01060111 COSM4882366 c.1562G>A p.G521E Substitution - Missense 17:7703401-7703401 + PDA_050 COSM148183 c.1565C>G p.A522G Substitution - Missense 17:7703404-7703404 + T3724 COSM4741459 c.1557_1558insGG p.A522fs*27 Insertion - Frameshift 17:7703396-7703397 + HCT-116 COSM1679519 c.1397G>A p.G466D Substitution - Missense 17:7703121-7703121 + BD87T COSM5505405 c.73C>G p.P25A Substitution - Missense 17:7688721-7688721 + GC8_T COSM148183 c.1565C>G p.A522G Substitution - Missense 17:7703404-7703404 + STC252 COSM5055816 c.1599C>T p.G533G Substitution - coding silent 17:7703438-7703438 + TCGA-FS-A1ZF-06 COSM3522718 c.154C>T p.R52W Substitution - Missense 17:7688802-7688802 + T84 COSM2745347 c.1136G>C p.G379A Substitution - Missense 17:7702524-7702524 + CSCC-16-T COSM4522045 c.1142G>C p.R381P Substitution - Missense 17:7702530-7702530 + sysucc-707T COSM5460066 c.117A>G p.E39E Substitution - coding silent 17:7688765-7688765 + TCGA-37-5819-01 COSM707849 c.1268C>T p.P423L Substitution - Missense 17:7702846-7702846 + TCGA-A5-A0GB-01 COSM985010 c.1619C>T p.T540M Substitution - Missense 17:7703458-7703458 + TCGA-CJ-4918-01 COSM473439 c.1024T>C p.C342R Substitution - Missense 17:7702412-7702412 + CHC892T COSM4960820 c.1037G>A p.G346D Substitution - Missense 17:7702425-7702425 + ESCC_143 COSM1386964 c.1565delC p.A522fs*26 Deletion - Frameshift 17:7703404-7703404 + GC8_T COSM148182 c.450C>T p.F150F Substitution - coding silent 17:7689242-7689242 + TCGA-EM-A3OB-01 COSM3370931 c.846G>A p.S282S Substitution - coding silent 17:7701680-7701680 + TCGA-AX-A0J0-01 COSM985009 c.1380G>A p.Q460Q Substitution - coding silent 17:7703104-7703104 + TCGA-AR-A256-01 COSM1480099 c.279C>T p.I93I Substitution - coding silent 17:7688927-7688927 + TCGA-EE-A2GH-06 COSM3522737 c.929G>A p.R310Q Substitution - Missense 17:7701763-7701763 + CN-AML-NR-08-Dx COSM148182 c.450C>T p.F150F Substitution - coding silent 17:7689242-7689242 + TCGA-AP-A0LM-01 COSM985003 c.1001G>T p.S334I Substitution - Missense 17:7702389-7702389 + STC246 COSM1386964 c.1565delC p.A522fs*26 Deletion - Frameshift 17:7703404-7703404 + PT42 COSM5925959 c.1403+3C>T p.? Unknown 17:7703130-7703130 + BD236T COSM5519447 c.1160G>A p.R387H Substitution - Missense 17:7702548-7702548 + TCGA-EE-A3JD-06 COSM4394569 c.801C>T p.S267S Substitution - coding silent 17:7701528-7701528 + T2269 COSM4741457 c.507G>T p.E169D Substitution - Missense 17:7689299-7689299 + TCGA-BR-6452-01 COSM4070084 c.834G>A p.T278T Substitution - coding silent 17:7701668-7701668 + I2L-P7-Tumor-Organoid COSM1386963 c.1558delG p.A522fs*26 Deletion - Frameshift 17:7703397-7703397 + TCGA-EE-A181-06 COSM3522734 c.855C>T p.F285F Substitution - coding silent 17:7701689-7701689 + TCGA-AO-A12F-01 COSM437647 c.1399G>C p.V467L Substitution - Missense 17:7703123-7703123 + CHC892T COSM4960820 c.1037G>A p.G346D Substitution - Missense 17:7702425-7702425 + TCGA-EA-A411-01 COSM4838093 c.696T>A p.Y232* Substitution - Nonsense 17:7700794-7700794 + HCC2998 COSM2745205 c.166G>A p.D56N Substitution - Missense 17:7688814-7688814 + CHC433T COSM148182 c.450C>T p.F150F Substitution - coding silent 17:7689242-7689242 + RMS106_ COSM4986721 c.1A>G p.M1V Substitution - Missense 17:7688649-7688649 + TCGA-EE-A2MS-06 COSM3522719 c.655C>T p.R219* Substitution - Nonsense 17:7700753-7700753 + CSCC-31-T COSM4544848 c.364G>A p.E122K Substitution - Missense 17:7689012-7689012 + PD13618a COSM5786768 c.813C>A p.Y271* Substitution - Nonsense 17:7701540-7701540 + RMS66_ COSM4418061 c.202C>G p.R68G Substitution - Missense 17:7688850-7688850 + TCGA-BR-8680-01 COSM4070070 c.656G>A p.R219Q Substitution - Missense 17:7700754-7700754 + TCGA-AD-5900-01 COSM1386943 c.259A>G p.S87G Substitution - Missense 17:7688907-7688907 + CHC433T COSM3766194 c.1308T>C p.A436A Substitution - coding silent 17:7703032-7703032 + TCGA-BR-4184-01 COSM4070085 c.838G>A p.A280T Substitution - Missense 17:7701672-7701672 + TCGA-A8-A09N-01 COSM437646 c.1176C>A p.L392L Substitution - coding silent 17:7702754-7702754 + TCGA-G9-6338-01 COSM3672595 c.223C>A p.L75I Substitution - Missense 17:7688871-7688871 + T1 COSM148182 c.450C>T p.F150F Substitution - coding silent 17:7689242-7689242 + HCC103 COSM3717688 c.78T>G p.S26S Substitution - coding silent 17:7688726-7688726 + LUAD-NYU408 COSM374226 c.1416C>T p.S472S Substitution - coding silent 17:7703255-7703255 + HCC103T COSM3717688 c.78T>G p.S26S Substitution - coding silent 17:7688726-7688726 + Au3 COSM2745345 c.845C>T p.S282L Substitution - Missense 17:7701679-7701679 + TCGA-AM-5820-01 COSM148182 c.450C>T p.F150F Substitution - coding silent 17:7689242-7689242 + T2941 COSM4741458 c.936C>T p.C312C Substitution - coding silent 17:7701770-7701770 + TCGA-AD-6964-01 COSM1386963 c.1558delG p.A522fs*26 Deletion - Frameshift 17:7703397-7703397 + TCGA-BS-A0TE-01 COSM984995 c.234C>T p.P78P Substitution - coding silent 17:7688882-7688882 + LUAD-S01315 COSM344606 c.1627G>T p.G543C Substitution - Missense 17:7703466-7703466 + EOPC-194_tumor_01 COSM3370931 c.846G>A p.S282S Substitution - coding silent 17:7701680-7701680 + TCGA-DU-7019-01 COSM3970392 c.76T>C p.S26P Substitution - Missense 17:7688724-7688724 + TCGA-34-2600-01 COSM707852 c.64C>G p.P22A Substitution - Missense 17:7688712-7688712 + TCGA-EB-A3Y6-01 COSM3522735 c.861G>A p.P287P Substitution - coding silent 17:7701695-7701695 + SNUH_G22_S1 COSM4000311 c.180C>G p.G60G Substitution - coding silent 17:7688828-7688828 + TCGA-CG-4437-01 COSM4070071 c.727T>G p.S243A Substitution - Missense 17:7700825-7700825 + TCGA-AR-A0TY-01 COSM5055815 c.1557_1558insG p.A522fs*8 Insertion - Frameshift 17:7703396-7703397 + PR-1783 COSM219982 c.7A>C p.T3P Substitution - Missense 17:7688655-7688655 + TCGA-D1-A103-01 COSM984996 c.429C>T p.D143D Substitution - coding silent 17:7689077-7689077 + TCGA-QB-A6FS-06 COSM3890525 c.1442G>A p.G481D Substitution - Missense 17:7703281-7703281 + YUROC COSM5387436 c.322G>T p.E108* Substitution - Nonsense 17:7688970-7688970 + TCGA-AZ-5407-01 COSM1386962 c.1246C>T p.R416C Substitution - Missense 17:7702824-7702824 + TCGA-EB-A431-01 COSM3522738 c.1130C>T p.P377L Substitution - Missense 17:7702518-7702518 + ESO-859 COSM1240664 c.1302C>T p.S434S Substitution - coding silent 17:7703026-7703026 + ESCC_BICR_001T COSM2745210 c.652C>T p.L218F Substitution - Missense 17:7700750-7700750 + 250LT COSM148183 c.1565C>G p.A522G Substitution - Missense 17:7703404-7703404 + TCGA-AX-A060-01 COSM985002 c.796G>A p.A266T Substitution - Missense 17:7701523-7701523 + SNUH_G76_S1 COSM4418061 c.202C>G p.R68G Substitution - Missense 17:7688850-7688850 + LIM1215 COSM2745343 c.775G>A p.A259T Substitution - Missense 17:7701502-7701502 + AOCS-167-3-2 COSM4139894 c.618G>T p.G206G Substitution - coding silent 17:7689677-7689677 + 169 COSM3729672 c.1507C>T p.L503F Substitution - Missense 17:7703346-7703346 + 8051723 COSM4407471 c.642+6G>A p.? Unknown 17:7689707-7689707 + TCGA-B5-A0K2-01 COSM985008 c.1357C>T p.P453S Substitution - Missense 17:7703081-7703081 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.408312 17p13.1 612661 2429497|CGAP|BC002336|C/G|coding|Ala522Gly|1639|Validated; 1518420|dbSNP|BC002336|C/G|coding|Ala522Gly|1639|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.L67L c.201A>G 17 7592167 HNSC A T Synonymous p.P523P c.1569A>T 17 7606726 LUAD C A Missense p.L75I c.223C>A 17 7592189 PRAD C A Synonymous p.L392L c.1176C>A 17 7606072 BRCA C A Synonymous p.T166T c.498C>A 17 7592608 STAD C - Frameshift p.A522Gfs*26 c.1565delC 17 7606722 BLCA C - Frameshift p.A522Gfs*26 c.1565delC 17 7606722 CM C G Missense p.L458V c.1372C>G 17 7606414 CM C G Missense p.P22A c.64C>G 17 7592030 LUSC C G Missense p.Q291E c.871C>G 17 7605023 CM C T IntronicSNV . c.1165-90C>T 17 7605971 CM C T Missense p.P423L c.1268C>T 17 7606164 LUSC C T Missense p.P453S c.1357C>T 17 7606399 UCEC C T Missense p.R52W c.154C>T 17 7592120 CM C T Missense p.T540M c.1619C>T 17 7606776 UCEC C T Nonsense p.R219* c.655C>T 17 7604071 CM C T Nonsense p.R310* c.928C>T 17 7605080 CM C T Synonymous p.F285F c.855C>T 17 7605007 CM C T Synonymous p.I93I c.279C>T 17 7592245 BRCA C T Synonymous p.L198L c.592C>T 17 7592969 CM C T Synonymous p.P78P c.234C>T 17 7592200 UCEC C T Synonymous p.S165S c.495C>T 17 7592605 LUAD C T Synonymous p.S267S c.801C>T 17 7604846 CM C T Synonymous p.S304S c.912C>T 17 7605064 CM C T Synonymous p.S434S c.1302C>T 17 7606344 ESCA G A Missense p.A266T c.796G>A 17 7604841 UCEC G A Missense p.D422N c.1264G>A 17 7606160 CM G A Missense p.R310Q c.929G>A 17 7605081 CM G A Synonymous p.P423P c.1269G>A 17 7606311 CM G A Synonymous p.S282S c.846G>A 17 7604998 THCA G C Missense p.V467L c.1399G>C 17 7606441 BRCA G T Synonymous p.P253P c.759G>T 17 7604804 HNSC T C Missense p.S26P c.76T>C 17 7592042 LGG T G Missense p.S243A c.727T>G 17 7604143 STAD