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 1 43826794 43826794 + Missense_Mutation SNP G G A TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr1:43826794G>A c.1081G>A c.(1081-1083)Gta>Ata p.V361I BLCA 1 43825014 43825014 + Missense_Mutation SNP T T A TCGA-XF-AAN7-01A-11D-A42E-08 TCGA-XF-AAN7-10A-01D-A42H-08 g.chr1:43825014T>A c.128T>A c.(127-129)aTg>aAg p.M43K BLCA 1 43825271 43825271 + Nonsense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 g.chr1:43825271G>T c.292G>T c.(292-294)Gag>Tag p.E98* BLCA 1 43825981 43825981 + Missense_Mutation SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr1:43825981C>T c.674C>T c.(673-675)cCt>cTt p.P225L BLCA 1 43826470 43826470 + Silent SNP G G A TCGA-4Z-AA7O-01A-31D-A391-08 TCGA-4Z-AA7O-10A-01D-A394-08 g.chr1:43826470G>A c.915G>A c.(913-915)ctG>ctA p.L305L BLCA 1 43828720 43828720 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr1:43828720G>C c.1420G>C c.(1420-1422)Gag>Cag p.E474Q BRCA 1 43828729 43828729 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 g.chr1:43828729C>G c.1429C>G c.(1429-1431)Cct>Gct p.P477A CESC 1 43825052 43825052 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr1:43825052C>T c.166C>T c.(166-168)Ccg>Tcg p.P56S CESC 1 43827899 43827899 + Missense_Mutation SNP G G C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 g.chr1:43827899G>C c.1237G>C c.(1237-1239)Gag>Cag p.E413Q CESC 1 43827910 43827910 + Silent SNP A A C TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 g.chr1:43827910A>C c.1248A>C c.(1246-1248)tcA>tcC p.S416S COAD 1 43825929 43825929 + Missense_Mutation SNP C C A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr1:43825929C>A c.622C>A c.(622-624)Ctg>Atg p.L208M COAD 1 43826514 43826514 + Missense_Mutation SNP A A T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:43826514A>T c.959A>T c.(958-960)gAt>gTt p.D320V COAD 1 43828742 43828742 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:43828742G>A c.1442G>A c.(1441-1443)cGg>cAg p.R481Q COADREAD 1 43825929 43825929 + Missense_Mutation SNP C C A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr1:43825929C>A c.622C>A c.(622-624)Ctg>Atg p.L208M COADREAD 1 43826514 43826514 + Missense_Mutation SNP A A T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:43826514A>T c.959A>T c.(958-960)gAt>gTt p.D320V COADREAD 1 43828742 43828742 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:43828742G>A c.1442G>A c.(1441-1443)cGg>cAg p.R481Q ESCA 1 43825769 43825770 + Splice_Site INS - - T TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr1:43825769_43825770insT c.e4+1 ESCA 1 43826244 43826244 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:43826244G>C c.828G>C c.(826-828)tgG>tgC p.W276C ESCA 1 43827963 43827963 + Missense_Mutation SNP C C T TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr1:43827963C>T c.1301C>T c.(1300-1302)gCc>gTc p.A434V GBMLGG 1 43824890 43824890 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:43824890G>A c.4G>A c.(4-6)Gca>Aca p.A2T GBMLGG 1 43824985 43824985 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr1:43824985G>A c.99G>A c.(97-99)aaG>aaA p.K33K GBMLGG 1 43825273 43825273 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:43825273G>A c.294G>A c.(292-294)gaG>gaA p.E98E GBMLGG 1 43826262 43826262 + Silent SNP C C A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr1:43826262C>A c.846C>A c.(844-846)tcC>tcA p.S282S HNSC 1 43825057 43825057 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr1:43825057C>T c.171C>T c.(169-171)ggC>ggT p.G57G HNSC 1 43825460 43825460 + Missense_Mutation SNP G G C TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr1:43825460G>C c.395G>C c.(394-396)cGg>cCg p.R132P KIPAN 1 43825663 43825663 + Missense_Mutation SNP C C T TCGA-CZ-5466-01A-01D-1501-10 TCGA-CZ-5466-11A-01D-1501-10 g.chr1:43825663C>T c.451C>T c.(451-453)Ctc>Ttc p.L151F KIPAN 1 43825898 43825898 + Silent SNP A A G TCGA-2Z-A9J7-01A-11D-A382-10 TCGA-2Z-A9J7-10A-01D-A385-10 g.chr1:43825898A>G c.591A>G c.(589-591)gtA>gtG p.V197V KIPAN 1 43826814 43826814 + Missense_Mutation SNP G G C TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr1:43826814G>C c.1101G>C c.(1099-1101)caG>caC p.Q367H KIPAN 1 43828621 43828621 + Splice_Site SNP G G A TCGA-GL-7773-01A-11D-2136-08 TCGA-GL-7773-10A-01D-2136-08 g.chr1:43828621G>A c.e10-1 KIRC 1 43825663 43825663 + Missense_Mutation SNP C C T TCGA-CZ-5466-01A-01D-1501-10 TCGA-CZ-5466-11A-01D-1501-10 g.chr1:43825663C>T c.451C>T c.(451-453)Ctc>Ttc p.L151F KIRP 1 43825898 43825898 + Silent SNP A A G TCGA-2Z-A9J7-01A-11D-A382-10 TCGA-2Z-A9J7-10A-01D-A385-10 g.chr1:43825898A>G c.591A>G c.(589-591)gtA>gtG p.V197V KIRP 1 43826814 43826814 + Missense_Mutation SNP G G C TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr1:43826814G>C c.1101G>C c.(1099-1101)caG>caC p.Q367H KIRP 1 43828621 43828621 + Splice_Site SNP G G A TCGA-GL-7773-01A-11D-2136-08 TCGA-GL-7773-10A-01D-2136-08 g.chr1:43828621G>A c.e10-1 LGG 1 43824890 43824890 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:43824890G>A c.4G>A c.(4-6)Gca>Aca p.A2T LGG 1 43824985 43824985 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr1:43824985G>A c.99G>A c.(97-99)aaG>aaA p.K33K LGG 1 43825273 43825273 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:43825273G>A c.294G>A c.(292-294)gaG>gaA p.E98E LGG 1 43826262 43826262 + Silent SNP C C A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr1:43826262C>A c.846C>A c.(844-846)tcC>tcA p.S282S LUAD 1 43824905 43824905 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr1:43824905G>C c.19G>C c.(19-21)Gag>Cag p.E7Q LUAD 1 43825017 43825017 + Missense_Mutation SNP G G T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr1:43825017G>T c.131G>T c.(130-132)cGg>cTg p.R44L LUAD 1 43825182 43825182 + Missense_Mutation SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr1:43825182A>G c.203A>G c.(202-204)cAg>cGg p.Q68R LUAD 1 43825190 43825190 + Missense_Mutation SNP C C G TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr1:43825190C>G c.211C>G c.(211-213)Cct>Gct p.P71A LUAD 1 43825658 43825658 + Missense_Mutation SNP A A G TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr1:43825658A>G c.446A>G c.(445-447)aAa>aGa p.K149R LUAD 1 43826219 43826219 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 g.chr1:43826219C>T c.803C>T c.(802-804)tCt>tTt p.S268F LUAD 1 43826790 43826790 + Splice_Site SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 g.chr1:43826790G>A c.e8-1 LUAD 1 43828709 43828709 + Nonsense_Mutation SNP G G A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr1:43828709G>A c.1409G>A c.(1408-1410)tGg>tAg p.W470* LUSC 1 43825396 43825396 + Splice_Site SNP G G A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr1:43825396G>A c.331G>A c.(331-333)Gaa>Aaa p.E111K OV 1 43825411 43825433 + Frame_Shift_Del DEL TGGGCTTTGAACCTGAACGGTTT TGGGCTTTGAACCTGAACGGTTT - TCGA-13-2071-01A-02D-1526-09 TCGA-13-2071-10A-01D-1526-09 g.chr1:43825411_43825433delTGGGCTTTGAACCTGAACGGTTT c.346_368delTGGGCTTTGAACCTGAACGGTTT c.(346-369)tgggctttgaacctgaacggttttfs p.WALNLNGF116fs OV 1 43825491 43825491 + Splice_Site SNP G G C TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 g.chr1:43825491G>C c.426G>C c.(424-426)gaG>gaC p.E142D OV 1 43827963 43827963 + Missense_Mutation SNP C C A TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 g.chr1:43827963C>A c.1301C>A c.(1300-1302)gCc>gAc p.A434D OV 1 43828712 43828712 + Missense_Mutation SNP G G A TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 g.chr1:43828712G>A c.1412G>A c.(1411-1413)cGc>cAc p.R471H PRAD 1 43825643 43825643 + Missense_Mutation SNP A A T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 g.chr1:43825643A>T c.431A>T c.(430-432)tAt>tTt p.Y144F PRAD 1 43825955 43825955 + Frame_Shift_Del DEL C C - TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 g.chr1:43825955delC c.648delC c.(646-648)atcfs p.I216fs PRAD 1 43828701 43828701 + Silent SNP G G A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 g.chr1:43828701G>A c.1401G>A c.(1399-1401)ctG>ctA p.L467L SKCM 1 43825262 43825262 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr1:43825262C>T c.283C>T c.(283-285)Ctg>Ttg p.L95L SKCM 1 43825482 43825482 + Silent SNP T T C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr1:43825482T>C c.417T>C c.(415-417)aaT>aaC p.N139N SKCM 1 43825722 43825722 + Silent SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr1:43825722C>T c.510C>T c.(508-510)tcC>tcT p.S170S SKCM 1 43825729 43825729 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:43825729G>A c.517G>A c.(517-519)Gac>Aac p.D173N SKCM 1 43825755 43825755 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:43825755C>T c.543C>T c.(541-543)atC>atT p.I181I

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 1 43826867 43826867 single base substitution G T downstream_gene_variant BLCA-CN 1 43826867 43826867 single base substitution G T exon_variant BLCA-CN 1 43826867 43826867 single base substitution G T missense_variant W385L 1154G>T BRCA-EU 1 43820284 43820284 single base substitution T C upstream_gene_variant BRCA-EU 1 43822676 43822676 single base substitution C G upstream_gene_variant BRCA-EU 1 43823848 43823848 single base substitution T C upstream_gene_variant BRCA-EU 1 43824889 43824889 single base substitution G A start_lost M1I 3G>A BRCA-EU 1 43824889 43824889 single base substitution G A upstream_gene_variant BRCA-EU 1 43825460 43825460 single base substitution G A exon_variant BRCA-EU 1 43825460 43825460 single base substitution G A missense_variant R132Q 395G>A BRCA-EU 1 43825460 43825460 single base substitution G A upstream_gene_variant BRCA-EU 1 43827164 43827164 single base substitution T A downstream_gene_variant BRCA-EU 1 43827164 43827164 single base substitution T A intron_variant BRCA-EU 1 43831372 43831372 single base substitution G A downstream_gene_variant BRCA-EU 1 43831531 43831531 single base substitution C T downstream_gene_variant BRCA-EU 1 43832265 43832265 single base substitution C T downstream_gene_variant BRCA-EU 1 43832830 43832830 single base substitution G A downstream_gene_variant BRCA-EU 1 43833196 43833196 single base substitution C T downstream_gene_variant BRCA-EU 1 43833410 43833410 single base substitution G C downstream_gene_variant BRCA-FR 1 43826099 43826099 single base substitution A G intron_variant BRCA-FR 1 43826099 43826099 single base substitution A G upstream_gene_variant BRCA-FR 1 43831372 43831372 single base substitution G A downstream_gene_variant BRCA-UK 1 43831531 43831531 single base substitution C T downstream_gene_variant BRCA-UK 1 43832265 43832265 single base substitution C T downstream_gene_variant BRCA-US 1 43828729 43828729 single base substitution C G downstream_gene_variant BRCA-US 1 43828729 43828729 single base substitution C G exon_variant BRCA-US 1 43828729 43828729 single base substitution C G missense_variant P477A 1429C>G BTCA-JP 1 43828834 43828834 insertion of <=200bp - TTC 3_prime_UTR_variant BTCA-JP 1 43828834 43828834 insertion of <=200bp - TTC downstream_gene_variant BTCA-JP 1 43828839 43828839 single base substitution A C 3_prime_UTR_variant BTCA-JP 1 43828839 43828839 single base substitution A C downstream_gene_variant BTCA-JP 1 43831091 43831091 single base substitution G A downstream_gene_variant BTCA-JP 1 43831098 43831098 single base substitution C G downstream_gene_variant CESC-US 1 43825052 43825052 single base substitution C T missense_variant P56S 166C>T CESC-US 1 43825052 43825052 single base substitution C T upstream_gene_variant CESC-US 1 43827899 43827899 single base substitution G C downstream_gene_variant CESC-US 1 43827899 43827899 single base substitution G C exon_variant CESC-US 1 43827899 43827899 single base substitution G C missense_variant E413Q 1237G>C CESC-US 1 43827910 43827910 single base substitution A C downstream_gene_variant CESC-US 1 43827910 43827910 single base substitution A C exon_variant CESC-US 1 43827910 43827910 single base substitution A C synonymous_variant S416S 1248A>C CESC-US 1 43829599 43829599 single base substitution G A downstream_gene_variant CESC-US 1 43829755 43829755 single base substitution G T downstream_gene_variant COAD-US 1 43829589 43829589 single base substitution A G downstream_gene_variant COAD-US 1 43829639 43829639 single base substitution C T downstream_gene_variant COAD-US 1 43830459 43830459 single base substitution G A downstream_gene_variant COAD-US 1 43830951 43830951 single base substitution C T downstream_gene_variant COCA-CN 1 43826225 43826225 single base substitution G A exon_variant COCA-CN 1 43826225 43826225 single base substitution G A missense_variant R270Q 809G>A COCA-CN 1 43826225 43826225 single base substitution G A upstream_gene_variant COCA-CN 1 43828712 43828712 single base substitution G A downstream_gene_variant COCA-CN 1 43828712 43828712 single base substitution G A exon_variant COCA-CN 1 43828712 43828712 single base substitution G A missense_variant R471H 1412G>A COCA-CN 1 43831032 43831032 single base substitution C T downstream_gene_variant EOPC-DE 1 43833047 43833047 single base substitution G A downstream_gene_variant ESAD-UK 1 43821279 43821279 single base substitution A T upstream_gene_variant ESAD-UK 1 43822377 43822377 insertion of <=200bp - TTA upstream_gene_variant ESAD-UK 1 43827531 43827531 single base substitution C T downstream_gene_variant ESAD-UK 1 43827531 43827531 single base substitution C T intron_variant ESAD-UK 1 43827634 43827634 single base substitution T C downstream_gene_variant ESAD-UK 1 43827634 43827634 single base substitution T C intron_variant ESAD-UK 1 43828263 43828263 single base substitution C T downstream_gene_variant ESAD-UK 1 43828263 43828263 single base substitution C T intron_variant ESAD-UK 1 43829470 43829470 single base substitution C T downstream_gene_variant ESAD-UK 1 43833208 43833208 single base substitution C T downstream_gene_variant ESCA-CN 1 43829675 43829675 single base substitution C A downstream_gene_variant KIRC-US 1 43825663 43825663 single base substitution C T exon_variant KIRC-US 1 43825663 43825663 single base substitution C T missense_variant L151F 451C>T KIRC-US 1 43825663 43825663 single base substitution C T upstream_gene_variant KIRC-US 1 43829743 43829743 single base substitution C T downstream_gene_variant KIRP-US 1 43826814 43826814 single base substitution G C downstream_gene_variant KIRP-US 1 43826814 43826814 single base substitution G C exon_variant KIRP-US 1 43826814 43826814 single base substitution G C missense_variant Q367H 1101G>C KIRP-US 1 43828621 43828621 single base substitution G A downstream_gene_variant KIRP-US 1 43828621 43828621 single base substitution G A splice_acceptor_variant LAML-KR 1 43828508 43828508 single base substitution C A downstream_gene_variant LAML-KR 1 43828508 43828508 single base substitution C A intron_variant LAML-KR 1 43833411 43833411 single base substitution A G downstream_gene_variant LGG-US 1 43824985 43824985 single base substitution G A synonymous_variant K33K 99G>A LGG-US 1 43824985 43824985 single base substitution G A upstream_gene_variant LGG-US 1 43826262 43826262 single base substitution C A splice_region_variant LGG-US 1 43826262 43826262 single base substitution C A upstream_gene_variant LICA-CN 1 43828712 43828712 single base substitution G A downstream_gene_variant LICA-CN 1 43828712 43828712 single base substitution G A exon_variant LICA-CN 1 43828712 43828712 single base substitution G A missense_variant R471H 1412G>A LICA-FR 1 43821085 43821085 insertion of <=200bp - T upstream_gene_variant LICA-FR 1 43826880 43826880 insertion of <=200bp - T downstream_gene_variant LICA-FR 1 43826880 43826880 insertion of <=200bp - T exon_variant LICA-FR 1 43826880 43826880 insertion of <=200bp - T frameshift_variant S389S? LICA-FR 1 43831787 43831787 single base substitution C A downstream_gene_variant LINC-JP 1 43824889 43824889 single base substitution G A start_lost M1I 3G>A LINC-JP 1 43824889 43824889 single base substitution G A upstream_gene_variant LINC-JP 1 43824945 43824945 single base substitution T G missense_variant I20S 59T>G LINC-JP 1 43824945 43824945 single base substitution T G upstream_gene_variant LINC-JP 1 43828330 43828330 single base substitution T C downstream_gene_variant LINC-JP 1 43828330 43828330 single base substitution T C intron_variant LIRI-JP 1 43820087 43820087 single base substitution G A upstream_gene_variant LIRI-JP 1 43826917 43826917 single base substitution G T downstream_gene_variant LIRI-JP 1 43826917 43826917 single base substitution G T splice_donor_variant LIRI-JP 1 43830972 43830972 single base substitution A G downstream_gene_variant LIRI-JP 1 43833091 43833092 deletion of <=200bp CT - downstream_gene_variant LUSC-KR 1 43826312 43826312 single base substitution C A intron_variant LUSC-KR 1 43826312 43826312 single base substitution C A upstream_gene_variant LUSC-KR 1 43833812 43833812 single base substitution C A downstream_gene_variant LUSC-US 1 43825396 43825396 single base substitution G A missense_variant E111K 331G>A LUSC-US 1 43825396 43825396 single base substitution G A upstream_gene_variant MELA-AU 1 43819735 43819735 single base substitution G A upstream_gene_variant MELA-AU 1 43820235 43820235 single base substitution G A upstream_gene_variant MELA-AU 1 43820327 43820327 single base substitution C T upstream_gene_variant MELA-AU 1 43820558 43820558 single base substitution G A upstream_gene_variant MELA-AU 1 43821334 43821334 single base substitution G A upstream_gene_variant MELA-AU 1 43821435 43821435 single base substitution G A upstream_gene_variant MELA-AU 1 43821960 43821960 single base substitution G A upstream_gene_variant MELA-AU 1 43822020 43822020 single base substitution G A upstream_gene_variant MELA-AU 1 43823243 43823243 single base substitution G A upstream_gene_variant MELA-AU 1 43823251 43823251 single base substitution G A upstream_gene_variant MELA-AU 1 43823373 43823373 single base substitution A C upstream_gene_variant MELA-AU 1 43823431 43823432 multiple base substitution (>=2bp and <=200bp) GC TT upstream_gene_variant MELA-AU 1 43823465 43823465 single base substitution G A upstream_gene_variant MELA-AU 1 43823759 43823759 single base substitution C T upstream_gene_variant MELA-AU 1 43824514 43824514 single base substitution G A upstream_gene_variant MELA-AU 1 43824520 43824520 single base substitution C T upstream_gene_variant MELA-AU 1 43824525 43824525 single base substitution G A upstream_gene_variant MELA-AU 1 43824528 43824528 single base substitution G A upstream_gene_variant MELA-AU 1 43824528 43824529 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 43824528 43824529 multiple base substitution (>=2bp and <=200bp) GG AG upstream_gene_variant MELA-AU 1 43824529 43824529 single base substitution G A upstream_gene_variant MELA-AU 1 43824537 43824537 single base substitution C T upstream_gene_variant MELA-AU 1 43824541 43824541 single base substitution C T upstream_gene_variant MELA-AU 1 43824548 43824548 single base substitution G A upstream_gene_variant MELA-AU 1 43824583 43824583 single base substitution G A upstream_gene_variant MELA-AU 1 43825319 43825319 single base substitution C T intron_variant MELA-AU 1 43825319 43825319 single base substitution C T upstream_gene_variant MELA-AU 1 43826225 43826225 single base substitution G A exon_variant MELA-AU 1 43826225 43826225 single base substitution G A missense_variant R270Q 809G>A MELA-AU 1 43826225 43826225 single base substitution G A upstream_gene_variant MELA-AU 1 43826381 43826381 single base substitution G A intron_variant MELA-AU 1 43826381 43826381 single base substitution G A upstream_gene_variant MELA-AU 1 43827731 43827731 single base substitution G A downstream_gene_variant MELA-AU 1 43827731 43827731 single base substitution G A intron_variant MELA-AU 1 43828357 43828357 single base substitution A G downstream_gene_variant MELA-AU 1 43828357 43828357 single base substitution A G intron_variant MELA-AU 1 43828715 43828715 single base substitution G A downstream_gene_variant MELA-AU 1 43828715 43828715 single base substitution G A exon_variant MELA-AU 1 43828715 43828715 single base substitution G A missense_variant C472Y 1415G>A MELA-AU 1 43828729 43828730 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 1 43828729 43828730 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 1 43828729 43828730 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant P477I 1429CC>AT MELA-AU 1 43828795 43828795 single base substitution C T downstream_gene_variant MELA-AU 1 43828795 43828795 single base substitution C T missense_variant R499C 1495C>T MELA-AU 1 43829683 43829683 single base substitution G T downstream_gene_variant MELA-AU 1 43830505 43830505 single base substitution T C downstream_gene_variant MELA-AU 1 43830695 43830695 single base substitution G A downstream_gene_variant MELA-AU 1 43830919 43830919 single base substitution G A downstream_gene_variant MELA-AU 1 43830994 43830994 single base substitution T C downstream_gene_variant MELA-AU 1 43831290 43831290 single base substitution G A downstream_gene_variant MELA-AU 1 43831771 43831771 single base substitution G A downstream_gene_variant MELA-AU 1 43831773 43831773 single base substitution A T downstream_gene_variant MELA-AU 1 43831869 43831869 single base substitution G A downstream_gene_variant MELA-AU 1 43832136 43832136 single base substitution G A downstream_gene_variant MELA-AU 1 43832456 43832456 single base substitution C T downstream_gene_variant MELA-AU 1 43832524 43832524 single base substitution C T downstream_gene_variant MELA-AU 1 43833317 43833317 single base substitution G A downstream_gene_variant MELA-AU 1 43833678 43833678 single base substitution C T downstream_gene_variant ORCA-IN 1 43831047 43831047 single base substitution T C downstream_gene_variant OV-AU 1 43828603 43828603 single base substitution C G downstream_gene_variant OV-AU 1 43828603 43828603 single base substitution C G intron_variant PACA-AU 1 43824389 43824389 single base substitution A G upstream_gene_variant PACA-AU 1 43824393 43824393 single base substitution G T upstream_gene_variant PACA-AU 1 43824415 43824415 single base substitution T C upstream_gene_variant PACA-AU 1 43827306 43827306 single base substitution A C downstream_gene_variant PACA-AU 1 43827306 43827306 single base substitution A C intron_variant PACA-AU 1 43829369 43829369 single base substitution C T downstream_gene_variant PACA-AU 1 43833395 43833395 single base substitution G C downstream_gene_variant PACA-CA 1 43821051 43821051 single base substitution G C upstream_gene_variant PACA-CA 1 43823553 43823553 single base substitution G A upstream_gene_variant PACA-CA 1 43824450 43824450 single base substitution C G upstream_gene_variant PACA-CA 1 43829648 43829648 single base substitution C T downstream_gene_variant PAEN-AU 1 43826790 43826790 deletion of <=200bp G - downstream_gene_variant PAEN-AU 1 43826790 43826790 deletion of <=200bp G - exon_variant PAEN-AU 1 43826790 43826790 deletion of <=200bp G - splice_acceptor_variant PBCA-DE 1 43822122 43822122 single base substitution C G upstream_gene_variant PRAD-UK 1 43823940 43823940 single base substitution A T upstream_gene_variant PRAD-UK 1 43827860 43827860 single base substitution C G downstream_gene_variant PRAD-UK 1 43827860 43827860 single base substitution C G splice_region_variant PRAD-US 1 43830879 43830879 single base substitution A T downstream_gene_variant RECA-EU 1 43823830 43823830 single base substitution G T upstream_gene_variant RECA-EU 1 43825536 43825536 single base substitution A G exon_variant RECA-EU 1 43825536 43825536 single base substitution A G intron_variant RECA-EU 1 43825536 43825536 single base substitution A G upstream_gene_variant SKCA-BR 1 43820936 43820936 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 1 43821541 43821541 single base substitution G A upstream_gene_variant SKCA-BR 1 43824529 43824529 single base substitution G A upstream_gene_variant SKCA-BR 1 43825702 43825702 single base substitution A C exon_variant SKCA-BR 1 43825702 43825702 single base substitution A C missense_variant T164P 490A>C SKCA-BR 1 43825702 43825702 single base substitution A C upstream_gene_variant SKCA-BR 1 43827803 43827803 single base substitution G A downstream_gene_variant SKCA-BR 1 43827803 43827803 single base substitution G A intron_variant SKCA-BR 1 43828836 43828836 single base substitution C G 3_prime_UTR_variant SKCA-BR 1 43828836 43828836 single base substitution C G downstream_gene_variant SKCA-BR 1 43830776 43830776 single base substitution G A downstream_gene_variant SKCA-BR 1 43832617 43832617 single base substitution C A downstream_gene_variant SKCM-US 1 43825482 43825482 single base substitution T C exon_variant SKCM-US 1 43825482 43825482 single base substitution T C synonymous_variant N139N 417T>C SKCM-US 1 43825482 43825482 single base substitution T C upstream_gene_variant SKCM-US 1 43825722 43825722 single base substitution C T exon_variant SKCM-US 1 43825722 43825722 single base substitution C T synonymous_variant S170S 510C>T SKCM-US 1 43825722 43825722 single base substitution C T upstream_gene_variant SKCM-US 1 43825729 43825729 single base substitution G A exon_variant SKCM-US 1 43825729 43825729 single base substitution G A missense_variant D173N 517G>A SKCM-US 1 43825729 43825729 single base substitution G A upstream_gene_variant SKCM-US 1 43825755 43825755 single base substitution C T exon_variant SKCM-US 1 43825755 43825755 single base substitution C T synonymous_variant I181I 543C>T SKCM-US 1 43825755 43825755 single base substitution C T upstream_gene_variant SKCM-US 1 43829641 43829641 single base substitution G A downstream_gene_variant SKCM-US 1 43830265 43830265 single base substitution G A downstream_gene_variant SKCM-US 1 43830677 43830677 single base substitution G A downstream_gene_variant SKCM-US 1 43830919 43830919 single base substitution G A downstream_gene_variant STAD-US 1 43824946 43824946 deletion of <=200bp C - frameshift_variant I20 STAD-US 1 43824946 43824946 deletion of <=200bp C - upstream_gene_variant STAD-US 1 43825639 43825639 single base substitution G A exon_variant STAD-US 1 43825639 43825639 single base substitution G A splice_acceptor_variant STAD-US 1 43825639 43825639 single base substitution G A upstream_gene_variant STAD-US 1 43825904 43825904 single base substitution C T exon_variant STAD-US 1 43825904 43825904 single base substitution C T synonymous_variant A199A 597C>T STAD-US 1 43825904 43825904 single base substitution C T upstream_gene_variant STAD-US 1 43826794 43826794 single base substitution G A downstream_gene_variant STAD-US 1 43826794 43826794 single base substitution G A exon_variant STAD-US 1 43826794 43826794 single base substitution G A missense_variant V361I 1081G>A STAD-US 1 43828634 43828634 single base substitution G A downstream_gene_variant STAD-US 1 43828634 43828634 single base substitution G A exon_variant STAD-US 1 43828634 43828634 single base substitution G A missense_variant R445Q 1334G>A STAD-US 1 43828733 43828733 single base substitution C T downstream_gene_variant STAD-US 1 43828733 43828733 single base substitution C T exon_variant STAD-US 1 43828733 43828733 single base substitution C T missense_variant A478V 1433C>T STAD-US 1 43829798 43829798 single base substitution A G downstream_gene_variant STAD-US 1 43830302 43830302 single base substitution C T downstream_gene_variant STAD-US 1 43831048 43831048 single base substitution C T downstream_gene_variant THCA-SA 1 43824865 43824865 single base substitution C T 5_prime_UTR_variant THCA-SA 1 43824865 43824865 single base substitution C T upstream_gene_variant THCA-SA 1 43830433 43830433 single base substitution G C downstream_gene_variant THCA-US 1 43829727 43829727 single base substitution G A downstream_gene_variant THCA-US 1 43830608 43830608 single base substitution C G downstream_gene_variant UCEC-US 1 43825703 43825703 single base substitution C A exon_variant UCEC-US 1 43825703 43825703 single base substitution C A missense_variant T164N 491C>A UCEC-US 1 43825703 43825703 single base substitution C A upstream_gene_variant UCEC-US 1 43826201 43826201 single base substitution G A exon_variant UCEC-US 1 43826201 43826201 single base substitution G A missense_variant R262Q 785G>A UCEC-US 1 43826201 43826201 single base substitution G A upstream_gene_variant UCEC-US 1 43826244 43826244 single base substitution G A exon_variant UCEC-US 1 43826244 43826244 single base substitution G A stop_gained W276* 828G>A UCEC-US 1 43826244 43826244 single base substitution G A upstream_gene_variant UCEC-US 1 43826614 43826614 single base substitution G A downstream_gene_variant UCEC-US 1 43826614 43826614 single base substitution G A synonymous_variant Q353Q 1059G>A UCEC-US 1 43826614 43826614 single base substitution G A upstream_gene_variant UCEC-US 1 43827938 43827938 single base substitution G T downstream_gene_variant UCEC-US 1 43827938 43827938 single base substitution G T exon_variant UCEC-US 1 43827938 43827938 single base substitution G T missense_variant V426F 1276G>T UCEC-US 1 43830011 43830011 single base substitution A G downstream_gene_variant UCEC-US 1 43830292 43830292 single base substitution G A downstream_gene_variant UCEC-US 1 43831042 43831042 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A103-01 COSM909757 c.828G>A p.W276* Substitution - Nonsense 1:43360573-43360573 + RK032_C01 COSM1627077 c.1203+1G>T p.? Unknown 1:43361246-43361246 + SW48 COSM1247743 c.778C>T p.R260W Substitution - Missense 1:43360523-43360523 + Sample_1 COSM3997534 c.432T>C p.Y144Y Substitution - coding silent 1:43359973-43359973 + SC_9100 COSM5569062 c.318G>A p.T106T Substitution - coding silent 1:43359626-43359626 + PD11761a COSM3705888 c.3G>A p.M1I Substitution - Missense 1:43359218-43359218 + pfg057T COSM4753973 c.871C>A p.H291N Substitution - Missense 1:43360755-43360755 + TCGA-C5-A1MF-01 COSM4820656 c.1248A>C p.S416S Substitution - coding silent 1:43362239-43362239 + TCGA-BS-A0UM-01 COSM909755 c.491C>A p.T164N Substitution - Missense 1:43360032-43360032 + 587278 COSM1200341 c.1327A>G p.T443A Substitution - Missense 1:43362956-43362956 + PD13631a COSM5767707 c.395G>A p.R132Q Substitution - Missense 1:43359789-43359789 + TCGA-25-1633-01 COSM119918 c.1301C>A p.A434D Substitution - Missense 1:43362292-43362292 + SNUH_G26_S1 COSM3997534 c.432T>C p.Y144Y Substitution - coding silent 1:43359973-43359973 + 234 COSM3730804 c.490A>C p.T164P Substitution - Missense 1:43360031-43360031 + TCGA-13-2071-01 COSM1321063 c.346_368del23 p.W116fs*1 Deletion - Frameshift 1:43359740-43359762 + TCGA-EE-A2MC-06 COSM3489888 c.417T>C p.N139N Substitution - coding silent 1:43359811-43359811 + HCC012T COSM1321061 c.1412G>A p.R471H Substitution - Missense 1:43363041-43363041 + sysucc-1397T COSM1321061 c.1412G>A p.R471H Substitution - Missense 1:43363041-43363041 + PR-2858 COSM243571 c.614G>A p.S205N Substitution - Missense 1:43360250-43360250 + TCGA-CD-A4MG-01 COSM4008168 c.428-1G>A p.? Unknown 1:43359968-43359968 + PDA_084 COSM5002679 c.301C>T p.P101S Substitution - Missense 1:43359609-43359609 + SW48 COSM2170485 c.1147C>T p.R383C Substitution - Missense 1:43361189-43361189 + TCGA-AX-A0J1-01 COSM909759 c.1059G>A p.Q353Q Substitution - coding silent 1:43360943-43360943 + Pat_07_A COSM5846741 c.911C>T p.T304I Substitution - Missense 1:43360795-43360795 + TCGA-CZ-5466-01 COSM464650 c.451C>T p.L151F Substitution - Missense 1:43359992-43359992 + TCGA-CG-5723-01 COSM4008172 c.1433C>T p.A478V Substitution - Missense 1:43363062-43363062 + 3N26-VS-3T26 COSM4980038 c.297C>T p.N99N Substitution - coding silent 1:43359605-43359605 + YULONE COSM5381031 c.1444G>A p.E482K Substitution - Missense 1:43363073-43363073 + TCGA-DU-6410-01 COSM3966600 c.99G>A p.K33K Substitution - coding silent 1:43359314-43359314 + TCGA-MU-A51Y-01 COSM4836530 c.166C>T p.P56S Substitution - Missense 1:43359381-43359381 + P141 COSM1736946 c.1411C>T p.R471C Substitution - Missense 1:43363040-43363040 + CSCC-41-T COSM4464396 c.1331C>T p.S444F Substitution - Missense 1:43362960-43362960 + KM12 COSM2170488 c.1341G>A p.L447L Substitution - coding silent 1:43362970-43362970 + CSCC-47-T COSM4455947 c.968A>G p.H323R Substitution - Missense 1:43360852-43360852 + 3T COSM3733995 c.1061A>T p.H354L Substitution - Missense 1:43360945-43360945 + LC_C23 COSM1185439 c.965G>A p.R322Q Substitution - Missense 1:43360849-43360849 + PTC-10C COSM4143982 c.761A>C p.D254A Substitution - Missense 1:43360506-43360506 + ESO-075 COSM1247743 c.778C>T p.R260W Substitution - Missense 1:43360523-43360523 + T3225 COSM909758 c.946C>T p.R316C Substitution - Missense 1:43360830-43360830 + TCGA-D8-A1JL-01 COSM1474007 c.1429C>G p.P477A Substitution - Missense 1:43363058-43363058 + ESCC_165 COSM5648426 c.1436G>A p.R479Q Substitution - Missense 1:43363065-43363065 + CHC469T COSM3666539 c.1167_1168insT p.G390fs*49 Insertion - Frameshift 1:43361209-43361210 + TCGA-ER-A19A-06 COSM3489889 c.510C>T p.S170S Substitution - coding silent 1:43360051-43360051 + HCC2998 COSM1667496 c.316A>G p.T106A Substitution - Missense 1:43359624-43359624 + HCC99T COSM3705888 c.3G>A p.M1I Substitution - Missense 1:43359218-43359218 + HCC99 COSM3705888 c.3G>A p.M1I Substitution - Missense 1:43359218-43359218 + TCGA-EE-A3JD-06 COSM4396957 c.517G>A p.D173N Substitution - Missense 1:43360058-43360058 + TCGA-29-1761-01 COSM1321062 c.426G>C p.E142D Substitution - Missense 1:43359820-43359820 + B86-Tumor COSM1748455 c.1154G>T p.W385L Substitution - Missense 1:43361196-43361196 + CHC469T COSM3666539 c.1167_1168insT p.G390fs*49 Insertion - Frameshift 1:43361209-43361210 + CSCC-35-T COSM4454941 c.620A>C p.Y207S Substitution - Missense 1:43360256-43360256 + 587228 COSM1200340 c.1390G>T p.D464Y Substitution - Missense 1:43363019-43363019 + CSCC-31-T COSM2170475 c.485G>A p.R162Q Substitution - Missense 1:43360026-43360026 + SW48 COSM2170473 c.373G>A p.V125I Substitution - Missense 1:43359767-43359767 + Pat_15_B COSM5846740 c.113C>T p.P38L Substitution - Missense 1:43359328-43359328 + TCGA-BR-8683-01 COSM4008170 c.1081G>A p.V361I Substitution - Missense 1:43361123-43361123 + 1909594 COSM1289260 c.857G>A p.R286H Substitution - Missense 1:43360741-43360741 + HCC130T COSM1602422 c.59T>G p.I20S Substitution - Missense 1:43359274-43359274 + TCGA-AP-A0LM-01 COSM909756 c.785G>A p.R262Q Substitution - Missense 1:43360530-43360530 + ESO-859 COSM1238467 c.369T>C p.F123F Substitution - coding silent 1:43359763-43359763 + sysucc-311T COSM5478690 c.809G>A p.R270Q Substitution - Missense 1:43360554-43360554 + TCGA-MH-A561-01 COSM3985079 c.1101G>C p.Q367H Substitution - Missense 1:43361143-43361143 + TCGA-FG-7643-01 COSM3966601 c.846C>A p.S282S Substitution - coding silent 1:43360591-43360591 + TCGA-EE-A2GI-06 COSM3489890 c.543C>T p.I181I Substitution - coding silent 1:43360084-43360084 + 587220 COSM1200339 c.1139G>A p.R380Q Substitution - Missense 1:43361181-43361181 + S00050 COSM317096 c.341A>G p.K114R Substitution - Missense 1:43359735-43359735 + Pat_05_B COSM5846739 c.88C>A p.R30S Substitution - Missense 1:43359303-43359303 + 426 COSM4432854 c.782T>A p.L261H Substitution - Missense 1:43360527-43360527 + CHC469T COSM3666540 c.1168_1169insT p.G390fs*49 Insertion - Frameshift 1:43361210-43361211 + TCGA-C5-A1MF-01 COSM4820650 c.1237G>C p.E413Q Substitution - Missense 1:43362228-43362228 + TCGA-66-2787-01 COSM681309 c.331G>A p.E111K Substitution - Missense 1:43359725-43359725 + TCGA-AP-A059-01 COSM909760 c.1276G>T p.V426F Substitution - Missense 1:43362267-43362267 + ESCC_3 COSM3730804 c.490A>C p.T164P Substitution - Missense 1:43360031-43360031 + B86 COSM1748455 c.1154G>T p.W385L Substitution - Missense 1:43361196-43361196 + HCC130 COSM1602422 c.59T>G p.I20S Substitution - Missense 1:43359274-43359274 + TCGA-D1-A17C-01 COSM909758 c.946C>T p.R316C Substitution - Missense 1:43360830-43360830 + S00050 COSM317096 c.341A>G p.K114R Substitution - Missense 1:43359735-43359735 + TCGA-BR-8360-01 COSM4008169 c.597C>T p.A199A Substitution - coding silent 1:43360233-43360233 + TCGA-GL-7773-01 COSM3985080 c.1322-1G>A p.? Unknown 1:43362950-43362950 + TCGA-29-1702-01 COSM1321061 c.1412G>A p.R471H Substitution - Missense 1:43363041-43363041 + TCGA-F1-6177-01 COSM4008171 c.1334G>A p.R445Q Substitution - Missense 1:43362963-43362963 + HCC2998 COSM1667496 c.316A>G p.T106A Substitution - Missense 1:43359624-43359624 + ESCC-D5 COSM3730804 c.490A>C p.T164P Substitution - Missense 1:43360031-43360031 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524923;Hs.524935;Hs.524947 1p34.1 603618 2467274|CGAP|BC000624|C/T|coding|Tyr144Tyr|539|Validated; 2467274|CGAP|BC001088|C/T|coding|Tyr144Tyr|532|Validated; 2467274|CGAP|BC006272|C/T|coding|Tyr144Tyr|474|Validated; 2467274|CGAP|BC009425|C/T|coding|Tyr144Tyr|514|Validated; 2467274|CGAP|BC009426|C/T|coding|Tyr144Tyr|514|Validated; 2467274|CGAP|BC010044|C/T|coding|Tyr144Tyr|523|Validated; 2467274|CGAP|BC012803|C/T|coding|Tyr144Tyr|514|Validated; 2467274|CGAP|BC012827|C/T|coding|Tyr144Tyr|532|Validated; 2467274|CGAP|BC013303|C/T|coding|Tyr144Tyr|514|Validated; 2467274|CGAP|BC015998|C/T|coding|Tyr144Tyr|510|Validated; 2467274|CGAP|BC024257|C/T|coding|Tyr144Tyr|514|Validated; 2467274|CGAP|BC031294|C/T|coding|Tyr144Tyr|514|Validated; 2467274|CGAP|BC110321|C/T|coding|Tyr144Tyr|495|Validated; 2467276|CGAP|BC000624|C/T|non-coding||86|Candidate; 2467276|CGAP|BC001088|C/T|non-coding||79|Candidate; 2467276|CGAP|BC006272|C/T|non-coding||21|Candidate; 2467276|CGAP|BC009425|C/T|non-coding||61|Candidate; 2467276|CGAP|BC009426|C/T|non-coding||61|Candidate; 2467276|CGAP|BC010044|C/T|non-coding||70|Candidate; 2467276|CGAP|BC012803|C/T|non-coding||61|Candidate; 2467276|CGAP|BC012827|C/T|non-coding||79|Candidate; 2467276|CGAP|BC013303|C/T|non-coding||61|Candidate; 2467276|CGAP|BC015998|C/T|non-coding||57|Candidate; 2467276|CGAP|BC024257|C/T|non-coding||61|Candidate; 2467276|CGAP|BC031294|C/T|non-coding||61|Candidate; 2467276|CGAP|BC110321|C/T|non-coding||42|Candidate; 1177815|dbSNP|BC000624|C/T|coding|Tyr144Tyr|539|Validated; 1177815|dbSNP|BC001088|C/T|coding|Tyr1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K114R c.341A>G 1 43825406 SCLC C A Missense p.A434D c.1301C>A 1 43827963 OV C A Missense p.L208M c.622C>A 1 43825929 COREAD C A Missense p.T164N c.491C>A 1 43825703 UCEC C A Synonymous p.S282S c.846C>A 1 43826262 LGG C G Missense p.P477A c.1429C>G 1 43828729 BRCA C T Missense p.L151F c.451C>T 1 43825663 RCCC C T Missense p.P21S c.61C>T 1 43824947 HNSC C T Missense p.R260W c.778C>T 1 43826194 ESCA C T Missense p.S268F c.803C>T 1 43826219 LUAD C T Synonymous p.G57G c.171C>T 1 43825057 HNSC C T Synonymous p.I181I c.543C>T 1 43825755 CM C T Synonymous p.S170S c.510C>T 1 43825722 CM G A 5-UTRSNV . c.1-93G>A 1 43824794 CM G A Missense p.D173N c.517G>A 1 43825729 CM G A Missense p.E111K c.331G>A 1 43825396 LUSC G A Missense p.R445Q c.1334G>A 1 43828634 STAD G A Nonsense p.W470* c.1409G>A 1 43828709 LUAD G A Synonymous p.K33K c.99G>A 1 43824985 LGG G C Missense p.R132P c.395G>C 1 43825460 HNSC G T Missense p.R44L c.131G>T 1 43825017 LUAD T C Synonymous p.F123F c.369T>C 1 43825434 ESCA T C Synonymous p.N139N c.417T>C 1 43825482 CM