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 23 63444868 63444868 + Silent SNP T T G TCGA-OR-A5JD-01A-11D-A29I-10 TCGA-OR-A5JD-10B-01D-A29L-10 g.chrX:63444868T>G c.636A>C c.(634-636)ccA>ccC p.P212P BLCA 23 63445139 63445139 + Missense_Mutation SNP G G A TCGA-BT-A20V-01A-11D-A14W-08 TCGA-BT-A20V-11A-11D-A14W-08 g.chrX:63445139G>A c.365C>T c.(364-366)tCt>tTt p.S122F BLCA 23 63445342 63445342 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chrX:63445342G>T c.162C>A c.(160-162)ttC>ttA p.F54L BRCA 23 63445041 63445041 + Missense_Mutation SNP C C T TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chrX:63445041C>T c.463G>A c.(463-465)Gag>Aag p.E155K BRCA 23 63445286 63445286 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:63445286G>T c.218C>A c.(217-219)tCt>tAt p.S73Y BRCA 23 63445342 63445342 + Missense_Mutation SNP G G T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chrX:63445342G>T c.162C>A c.(160-162)ttC>ttA p.F54L COAD 23 63444286 63444286 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:63444286C>T c.859G>A c.(859-861)Ggc>Agc p.G287S COAD 23 63444799 63444799 + Silent SNP G G A TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chrX:63444799G>A c.705C>T c.(703-705)atC>atT p.I235I COAD 23 63445177 63445177 + Silent SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chrX:63445177A>G c.327T>C c.(325-327)caT>caC p.H109H COAD 23 63445177 63445177 + Silent SNP A A G TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chrX:63445177A>G c.327T>C c.(325-327)caT>caC p.H109H COAD 23 63445178 63445178 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chrX:63445178T>C c.326A>G c.(325-327)cAt>cGt p.H109R COAD 23 63445179 63445179 + Missense_Mutation SNP G G T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:63445179G>T c.325C>A c.(325-327)Cat>Aat p.H109N COADREAD 23 63444286 63444286 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chrX:63444286C>T c.859G>A c.(859-861)Ggc>Agc p.G287S COADREAD 23 63444307 63444307 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chrX:63444307G>A c.838C>T c.(838-840)Cgc>Tgc p.R280C COADREAD 23 63444779 63444779 + Missense_Mutation SNP T T C TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chrX:63444779T>C c.725A>G c.(724-726)tAc>tGc p.Y242C COADREAD 23 63444799 63444799 + Silent SNP G G A TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chrX:63444799G>A c.705C>T c.(703-705)atC>atT p.I235I COADREAD 23 63445158 63445158 + Missense_Mutation SNP G G C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chrX:63445158G>C c.346C>G c.(346-348)Ctt>Gtt p.L116V COADREAD 23 63445177 63445177 + Silent SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chrX:63445177A>G c.327T>C c.(325-327)caT>caC p.H109H COADREAD 23 63445177 63445177 + Silent SNP A A G TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chrX:63445177A>G c.327T>C c.(325-327)caT>caC p.H109H COADREAD 23 63445178 63445178 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chrX:63445178T>C c.326A>G c.(325-327)cAt>cGt p.H109R COADREAD 23 63445179 63445179 + Missense_Mutation SNP G G T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:63445179G>T c.325C>A c.(325-327)Cat>Aat p.H109N COADREAD 23 63445504 63445504 + 5'Flank SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:63445504C>A DLBC 23 63444983 63444983 + Missense_Mutation SNP C C T TCGA-FF-A7CX-01A-12D-A382-10 TCGA-FF-A7CX-10A-01D-A385-10 g.chrX:63444983C>T c.521G>A c.(520-522)gGc>gAc p.G174D ESCA 23 63444240 63444240 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chrX:63444240A>C c.905T>G c.(904-906)aTt>aGt p.I302S ESCA 23 63444300 63444300 + Missense_Mutation SNP G G T TCGA-IG-A50L-01A-11D-A27G-09 TCGA-IG-A50L-10A-01D-A27G-09 g.chrX:63444300G>T c.845C>A c.(844-846)gCc>gAc p.A282D ESCA 23 63445264 63445264 + Missense_Mutation SNP C C A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chrX:63445264C>A c.240G>T c.(238-240)ttG>ttT p.L80F GBM 23 63445208 63445208 + Missense_Mutation SNP G G A TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chrX:63445208G>A c.296C>T c.(295-297)aCg>aTg p.T99M GBMLGG 23 63444340 63444340 + Missense_Mutation SNP G G A TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chrX:63444340G>A c.805C>T c.(805-807)Cgg>Tgg p.R269W GBMLGG 23 63444766 63444766 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:63444766G>A c.738C>T c.(736-738)ctC>ctT p.L246L GBMLGG 23 63445176 63445176 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:63445176G>T c.328C>A c.(328-330)Ctg>Atg p.L110M GBMLGG 23 63445208 63445208 + Missense_Mutation SNP G G A TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chrX:63445208G>A c.296C>T c.(295-297)aCg>aTg p.T99M HNSC 23 63444272 63444272 + Silent SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 g.chrX:63444272G>A c.873C>T c.(871-873)gcC>gcT p.A291A HNSC 23 63445187 63445187 + Missense_Mutation SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chrX:63445187C>G c.317G>C c.(316-318)aGt>aCt p.S106T KIPAN 23 63445177 63445177 + Silent SNP A A G TCGA-B0-4843-01A-01D-1361-10 TCGA-B0-4843-11A-01D-1361-10 g.chrX:63445177A>G c.327T>C c.(325-327)caT>caC p.H109H KIRC 23 63445177 63445177 + Silent SNP A A G TCGA-B0-4843-01A-01D-1361-10 TCGA-B0-4843-11A-01D-1361-10 g.chrX:63445177A>G c.327T>C c.(325-327)caT>caC p.H109H LGG 23 63444340 63444340 + Missense_Mutation SNP G G A TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chrX:63444340G>A c.805C>T c.(805-807)Cgg>Tgg p.R269W LGG 23 63444766 63444766 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:63444766G>A c.738C>T c.(736-738)ctC>ctT p.L246L LGG 23 63445176 63445176 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:63445176G>T c.328C>A c.(328-330)Ctg>Atg p.L110M LIHC 23 63444957 63444957 + Missense_Mutation SNP C C A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chrX:63444957C>A c.547G>T c.(547-549)Ggg>Tgg p.G183W LIHC 23 63445128 63445128 + Missense_Mutation SNP T T C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chrX:63445128T>C c.376A>G c.(376-378)Agc>Ggc p.S126G LUAD 23 63444307 63444307 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chrX:63444307G>C c.838C>G c.(838-840)Cgc>Ggc p.R280G LUAD 23 63444721 63444721 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chrX:63444721C>T c.783G>A c.(781-783)ctG>ctA p.L261L LUAD 23 63444922 63444922 + Missense_Mutation SNP G G T TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chrX:63444922G>T c.582C>A c.(580-582)caC>caA p.H194Q LUAD 23 63444978 63444978 + Missense_Mutation SNP G G A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chrX:63444978G>A c.526C>T c.(526-528)Ctc>Ttc p.L176F LUAD 23 63444984 63444984 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 g.chrX:63444984C>A c.520G>T c.(520-522)Ggc>Tgc p.G174C LUAD 23 63445161 63445161 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chrX:63445161C>A c.343G>T c.(343-345)Gtg>Ttg p.V115L LUAD 23 63445164 63445164 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chrX:63445164G>A c.340C>T c.(340-342)Cgt>Tgt p.R114C LUAD 23 63445199 63445199 + Missense_Mutation SNP A A G TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chrX:63445199A>G c.305T>C c.(304-306)tTc>tCc p.F102S LUAD 23 63445215 63445215 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chrX:63445215C>T c.289G>A c.(289-291)Gca>Aca p.A97T LUAD 23 63445233 63445233 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 g.chrX:63445233C>G c.271G>C c.(271-273)Gac>Cac p.D91H LUAD 23 63445331 63445331 + Missense_Mutation SNP C C A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chrX:63445331C>A c.173G>T c.(172-174)aGg>aTg p.R58M LUSC 23 63444242 63444242 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chrX:63444242C>T c.903G>A c.(901-903)ttG>ttA p.L301L LUSC 23 63444978 63444978 + Missense_Mutation SNP G G T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chrX:63444978G>T c.526C>A c.(526-528)Ctc>Atc p.L176I LUSC 23 63445176 63445176 + Missense_Mutation SNP G G T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chrX:63445176G>T c.328C>A c.(328-330)Ctg>Atg p.L110M LUSC 23 63445290 63445290 + Missense_Mutation SNP C C A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chrX:63445290C>A c.214G>T c.(214-216)Gct>Tct p.A72S LUSC 23 63445504 63445504 + 5'Flank SNP C C G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chrX:63445504C>G OV 23 63445178 63445178 + Missense_Mutation SNP T T C TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 g.chrX:63445178T>C c.326A>G c.(325-327)cAt>cGt p.H109R OV 23 63445259 63445259 + Missense_Mutation SNP A A T TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 g.chrX:63445259A>T c.245T>A c.(244-246)gTc>gAc p.V82D PCPG 23 63445429 63445429 + Silent SNP C C T TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 g.chrX:63445429C>T c.75G>A c.(73-75)gaG>gaA p.E25E PRAD 23 63444281 63444281 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chrX:63444281C>T c.864G>A c.(862-864)caG>caA p.Q288Q PRAD 23 63444983 63444983 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chrX:63444983C>T c.521G>A c.(520-522)gGc>gAc p.G174D READ 23 63444307 63444307 + Missense_Mutation SNP G G A TCGA-DC-5337-01A-01D-1657-10 TCGA-DC-5337-10A-01D-1657-10 g.chrX:63444307G>A c.838C>T c.(838-840)Cgc>Tgc p.R280C READ 23 63444779 63444779 + Missense_Mutation SNP T T C TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chrX:63444779T>C c.725A>G c.(724-726)tAc>tGc p.Y242C READ 23 63445158 63445158 + Missense_Mutation SNP G G C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chrX:63445158G>C c.346C>G c.(346-348)Ctt>Gtt p.L116V READ 23 63445504 63445504 + 5'Flank SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:63445504C>A SKCM 23 63444318 63444318 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chrX:63444318C>T c.827G>A c.(826-828)cGt>cAt p.R276H SKCM 23 63444798 63444798 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chrX:63444798C>T c.706G>A c.(706-708)Gat>Aat p.D236N SKCM 23 63444798 63444798 + Missense_Mutation SNP C C T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chrX:63444798C>T c.706G>A c.(706-708)Gat>Aat p.D236N SKCM 23 63444870 63444870 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chrX:63444870G>A c.634C>T c.(634-636)Cca>Tca p.P212S SKCM 23 63444921 63444921 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chrX:63444921C>T c.583G>A c.(583-585)Ggg>Agg p.G195R SKCM 23 63445416 63445416 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:63445416G>A c.88C>T c.(88-90)Ctc>Ttc p.L30F SKCM 23 63445469 63445469 + Missense_Mutation SNP A A G TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chrX:63445469A>G c.35T>C c.(34-36)cTc>cCc p.L12P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR X 63444289 63444289 single base substitution C T missense_variant A286T 856G>A BOCA-FR X 63444289 63444289 single base substitution C T missense_variant A295T 883G>A BRCA-EU X 63439702 63439702 single base substitution A C downstream_gene_variant BRCA-EU X 63440554 63440554 single base substitution C G downstream_gene_variant BRCA-EU X 63441628 63441628 single base substitution G T downstream_gene_variant BRCA-EU X 63442093 63442093 single base substitution C G downstream_gene_variant BRCA-EU X 63442974 63442974 single base substitution G T downstream_gene_variant BRCA-EU X 63444081 63444081 single base substitution C T 3_prime_UTR_variant BRCA-EU X 63444876 63444876 single base substitution G A missense_variant R210C 628C>T BRCA-EU X 63444876 63444876 single base substitution G A missense_variant R219C 655C>T BRCA-EU X 63444981 63444981 single base substitution G A missense_variant P175S 523C>T BRCA-EU X 63444981 63444981 single base substitution G A missense_variant P184S 550C>T BRCA-EU X 63445453 63445453 single base substitution C A missense_variant K17N 51G>T BRCA-EU X 63445453 63445453 single base substitution C A missense_variant K26N 78G>T BRCA-EU X 63445730 63445730 single base substitution C T intron_variant BRCA-EU X 63445730 63445730 single base substitution C T upstream_gene_variant BRCA-EU X 63445736 63445736 single base substitution A T intron_variant BRCA-EU X 63445736 63445736 single base substitution A T upstream_gene_variant BRCA-EU X 63445947 63445947 single base substitution C G intron_variant BRCA-EU X 63445947 63445947 single base substitution C G upstream_gene_variant BRCA-EU X 63448697 63448697 single base substitution T C intron_variant BRCA-EU X 63448697 63448697 single base substitution T C upstream_gene_variant BRCA-EU X 63448812 63448812 single base substitution A C intron_variant BRCA-EU X 63448812 63448812 single base substitution A C upstream_gene_variant BRCA-EU X 63449662 63449662 single base substitution G A intron_variant BRCA-EU X 63449662 63449662 single base substitution G A upstream_gene_variant BRCA-EU X 63449824 63449824 single base substitution T A intron_variant BRCA-EU X 63449824 63449824 single base substitution T A upstream_gene_variant BRCA-EU X 63450212 63450212 single base substitution A G intron_variant BRCA-EU X 63450212 63450212 single base substitution A G upstream_gene_variant BRCA-EU X 63451866 63451866 single base substitution C T upstream_gene_variant BRCA-EU X 63451964 63451964 single base substitution G A upstream_gene_variant BRCA-EU X 63451977 63451977 single base substitution G A upstream_gene_variant BRCA-EU X 63453739 63453739 single base substitution G A upstream_gene_variant BRCA-EU X 63453894 63453894 single base substitution A T upstream_gene_variant BRCA-EU X 63454390 63454390 deletion of <=200bp T - upstream_gene_variant BRCA-FR X 63451058 63451058 single base substitution C G upstream_gene_variant BRCA-FR X 63451866 63451866 single base substitution C T upstream_gene_variant BRCA-FR X 63451977 63451977 single base substitution G A upstream_gene_variant BRCA-UK X 63451885 63451885 single base substitution C T upstream_gene_variant BRCA-US X 63445041 63445041 single base substitution C T missense_variant E155K 463G>A BRCA-US X 63445041 63445041 single base substitution C T missense_variant E164K 490G>A BRCA-US X 63445286 63445286 single base substitution G T missense_variant S73Y 218C>A BRCA-US X 63445286 63445286 single base substitution G T missense_variant S82Y 245C>A BRCA-US X 63445342 63445342 single base substitution G T missense_variant F54L 162C>A BRCA-US X 63445342 63445342 single base substitution G T missense_variant F63L 189C>A BTCA-JP X 63445010 63445010 single base substitution C A missense_variant W165L 494G>T BTCA-JP X 63445010 63445010 single base substitution C A missense_variant W174L 521G>T CLLE-ES X 63443347 63443347 single base substitution T A downstream_gene_variant COAD-US X 63444799 63444799 single base substitution G A synonymous_variant I235I 705C>T COAD-US X 63444799 63444799 single base substitution G A synonymous_variant I244I 732C>T ESCA-CN X 63444520 63444520 single base substitution A C intron_variant ESCA-CN X 63445208 63445208 single base substitution G A missense_variant T108M 323C>T ESCA-CN X 63445208 63445208 single base substitution G A missense_variant T99M 296C>T GBM-US X 63445208 63445208 single base substitution G A missense_variant T108M 323C>T GBM-US X 63445208 63445208 single base substitution G A missense_variant T99M 296C>T KIRC-US X 63445177 63445177 single base substitution A G synonymous_variant H109H 327T>C KIRC-US X 63445177 63445177 single base substitution A G synonymous_variant H118H 354T>C LICA-CN X 63445041 63445041 single base substitution C A stop_gained E155* 463G>T LICA-CN X 63445041 63445041 single base substitution C A stop_gained E164* 490G>T LICA-CN X 63445072 63445072 single base substitution A C synonymous_variant A144A 432T>G LICA-CN X 63445072 63445072 single base substitution A C synonymous_variant A153A 459T>G LICA-FR X 63444345 63444345 single base substitution G T missense_variant T267N 800C>A LICA-FR X 63444345 63444345 single base substitution G T missense_variant T276N 827C>A LIHC-US X 63445128 63445128 single base substitution T C missense_variant S126G 376A>G LIHC-US X 63445128 63445128 single base substitution T C missense_variant S135G 403A>G LINC-JP X 63444358 63444358 single base substitution G A intron_variant LINC-JP X 63452516 63452516 single base substitution C T upstream_gene_variant LIRI-JP X 63439405 63439405 single base substitution C T downstream_gene_variant LIRI-JP X 63439988 63439988 single base substitution A T downstream_gene_variant LIRI-JP X 63440743 63440743 single base substitution A T downstream_gene_variant LIRI-JP X 63441388 63441388 single base substitution T C downstream_gene_variant LIRI-JP X 63441734 63441734 single base substitution G A downstream_gene_variant LIRI-JP X 63444044 63444044 single base substitution A T downstream_gene_variant LIRI-JP X 63445250 63445250 single base substitution G A missense_variant A85V 254C>T LIRI-JP X 63445250 63445250 single base substitution G A missense_variant A94V 281C>T LIRI-JP X 63446384 63446384 single base substitution A G intron_variant LIRI-JP X 63446384 63446384 single base substitution A G upstream_gene_variant LIRI-JP X 63446491 63446491 single base substitution C A intron_variant LIRI-JP X 63446491 63446491 single base substitution C A upstream_gene_variant LIRI-JP X 63447525 63447525 single base substitution A T intron_variant LIRI-JP X 63447525 63447525 single base substitution A T upstream_gene_variant LIRI-JP X 63447737 63447737 single base substitution C T intron_variant LIRI-JP X 63447737 63447737 single base substitution C T upstream_gene_variant LIRI-JP X 63450881 63450881 single base substitution C T upstream_gene_variant LIRI-JP X 63453736 63453736 single base substitution T G upstream_gene_variant LIRI-JP X 63454899 63454899 single base substitution G A upstream_gene_variant LIRI-JP X 63454918 63454918 single base substitution G A upstream_gene_variant LIRI-JP X 63455218 63455218 single base substitution G A upstream_gene_variant LUSC-KR X 63440239 63440239 single base substitution C T downstream_gene_variant LUSC-KR X 63441982 63441982 single base substitution C T downstream_gene_variant LUSC-KR X 63445766 63445766 single base substitution C T intron_variant LUSC-KR X 63445766 63445766 single base substitution C T upstream_gene_variant LUSC-KR X 63449830 63449830 single base substitution T A intron_variant LUSC-KR X 63449830 63449830 single base substitution T A upstream_gene_variant LUSC-KR X 63449886 63449886 single base substitution G C intron_variant LUSC-KR X 63449886 63449886 single base substitution G C upstream_gene_variant LUSC-KR X 63450110 63450110 single base substitution C A intron_variant LUSC-KR X 63450110 63450110 single base substitution C A upstream_gene_variant LUSC-KR X 63450982 63450982 single base substitution A C upstream_gene_variant LUSC-KR X 63451320 63451320 single base substitution C T upstream_gene_variant LUSC-KR X 63452382 63452382 single base substitution T C upstream_gene_variant LUSC-KR X 63453541 63453541 single base substitution C A upstream_gene_variant LUSC-KR X 63453997 63453997 single base substitution G C upstream_gene_variant LUSC-KR X 63455259 63455259 single base substitution C T upstream_gene_variant LUSC-US X 63444242 63444242 single base substitution C T synonymous_variant L301L 903G>A LUSC-US X 63444242 63444242 single base substitution C T synonymous_variant L310L 930G>A LUSC-US X 63444978 63444978 single base substitution G T missense_variant L176I 526C>A LUSC-US X 63444978 63444978 single base substitution G T missense_variant L185I 553C>A LUSC-US X 63445176 63445176 single base substitution G T missense_variant L110M 328C>A LUSC-US X 63445176 63445176 single base substitution G T missense_variant L119M 355C>A LUSC-US X 63445290 63445290 single base substitution C A missense_variant A72S 214G>T LUSC-US X 63445290 63445290 single base substitution C A missense_variant A81S 241G>T LUSC-US X 63445504 63445504 single base substitution C G missense_variant K9N 27G>C LUSC-US X 63445504 63445504 single base substitution C G upstream_gene_variant MALY-DE X 63439373 63439373 single base substitution C G downstream_gene_variant MALY-DE X 63448285 63448285 single base substitution G A intron_variant MALY-DE X 63448285 63448285 single base substitution G A upstream_gene_variant MALY-DE X 63451999 63451999 single base substitution C A upstream_gene_variant MALY-DE X 63453707 63453707 single base substitution A C upstream_gene_variant MELA-AU X 63439129 63439129 single base substitution G A downstream_gene_variant MELA-AU X 63439633 63439633 single base substitution G A downstream_gene_variant MELA-AU X 63439643 63439643 single base substitution G A downstream_gene_variant MELA-AU X 63439815 63439815 single base substitution T A downstream_gene_variant MELA-AU X 63439877 63439877 single base substitution G A downstream_gene_variant MELA-AU X 63440170 63440170 single base substitution G A downstream_gene_variant MELA-AU X 63440317 63440317 single base substitution C T downstream_gene_variant MELA-AU X 63440581 63440581 single base substitution A G downstream_gene_variant MELA-AU X 63440597 63440597 single base substitution C T downstream_gene_variant MELA-AU X 63440897 63440897 single base substitution C T downstream_gene_variant MELA-AU X 63441341 63441341 single base substitution G A downstream_gene_variant MELA-AU X 63441444 63441444 single base substitution T A downstream_gene_variant MELA-AU X 63441493 63441493 single base substitution C A downstream_gene_variant MELA-AU X 63442089 63442089 single base substitution C T downstream_gene_variant MELA-AU X 63442128 63442128 single base substitution C T downstream_gene_variant MELA-AU X 63442292 63442292 single base substitution G A downstream_gene_variant MELA-AU X 63442552 63442552 single base substitution G A downstream_gene_variant MELA-AU X 63442875 63442875 single base substitution G A downstream_gene_variant MELA-AU X 63443484 63443484 single base substitution C T downstream_gene_variant MELA-AU X 63444232 63444232 single base substitution G A synonymous_variant L305L 913C>T MELA-AU X 63444232 63444232 single base substitution G A synonymous_variant L314L 940C>T MELA-AU X 63444595 63444595 single base substitution G A intron_variant MELA-AU X 63445864 63445864 single base substitution G A intron_variant MELA-AU X 63445864 63445864 single base substitution G A upstream_gene_variant MELA-AU X 63446118 63446118 deletion of <=200bp G - intron_variant MELA-AU X 63446118 63446118 deletion of <=200bp G - upstream_gene_variant MELA-AU X 63446449 63446449 single base substitution A G intron_variant MELA-AU X 63446449 63446449 single base substitution A G upstream_gene_variant MELA-AU X 63446791 63446791 single base substitution G A intron_variant MELA-AU X 63446791 63446791 single base substitution G A upstream_gene_variant MELA-AU X 63446857 63446857 single base substitution G A intron_variant MELA-AU X 63446857 63446857 single base substitution G A upstream_gene_variant MELA-AU X 63447439 63447439 single base substitution G A intron_variant MELA-AU X 63447439 63447439 single base substitution G A upstream_gene_variant MELA-AU X 63447670 63447670 single base substitution C T intron_variant MELA-AU X 63447670 63447670 single base substitution C T upstream_gene_variant MELA-AU X 63447837 63447837 single base substitution C T intron_variant MELA-AU X 63447837 63447837 single base substitution C T upstream_gene_variant MELA-AU X 63447898 63447898 single base substitution T G intron_variant MELA-AU X 63447898 63447898 single base substitution T G upstream_gene_variant MELA-AU X 63448017 63448017 single base substitution A T intron_variant MELA-AU X 63448017 63448017 single base substitution A T upstream_gene_variant MELA-AU X 63448103 63448103 single base substitution C T intron_variant MELA-AU X 63448103 63448103 single base substitution C T upstream_gene_variant MELA-AU X 63448637 63448637 single base substitution A G intron_variant MELA-AU X 63448637 63448637 single base substitution A G upstream_gene_variant MELA-AU X 63448765 63448765 single base substitution C T intron_variant MELA-AU X 63448765 63448765 single base substitution C T upstream_gene_variant MELA-AU X 63449418 63449418 single base substitution G A intron_variant MELA-AU X 63449418 63449418 single base substitution G A upstream_gene_variant MELA-AU X 63449592 63449592 single base substitution G A intron_variant MELA-AU X 63449592 63449592 single base substitution G A upstream_gene_variant MELA-AU X 63449825 63449825 single base substitution C T intron_variant MELA-AU X 63449825 63449825 single base substitution C T upstream_gene_variant MELA-AU X 63450175 63450175 single base substitution C T intron_variant MELA-AU X 63450175 63450175 single base substitution C T upstream_gene_variant MELA-AU X 63450331 63450331 single base substitution C T intron_variant MELA-AU X 63450331 63450331 single base substitution C T upstream_gene_variant MELA-AU X 63450410 63450410 single base substitution C T 5_prime_UTR_variant MELA-AU X 63450410 63450410 single base substitution C T upstream_gene_variant MELA-AU X 63450419 63450419 single base substitution C T 5_prime_UTR_variant MELA-AU X 63450419 63450419 single base substitution C T upstream_gene_variant MELA-AU X 63450451 63450451 single base substitution G A 5_prime_UTR_variant MELA-AU X 63450451 63450451 single base substitution G A upstream_gene_variant MELA-AU X 63450466 63450466 single base substitution C A 5_prime_UTR_variant MELA-AU X 63450466 63450466 single base substitution C A upstream_gene_variant MELA-AU X 63450601 63450601 single base substitution G A upstream_gene_variant MELA-AU X 63451369 63451369 single base substitution C T upstream_gene_variant MELA-AU X 63451469 63451469 single base substitution C T upstream_gene_variant MELA-AU X 63451844 63451844 single base substitution C T upstream_gene_variant MELA-AU X 63451956 63451956 single base substitution C T upstream_gene_variant MELA-AU X 63452002 63452002 single base substitution A C upstream_gene_variant MELA-AU X 63452276 63452276 single base substitution A G upstream_gene_variant MELA-AU X 63452303 63452303 single base substitution C T upstream_gene_variant MELA-AU X 63452545 63452545 single base substitution C A upstream_gene_variant MELA-AU X 63453320 63453320 single base substitution G A upstream_gene_variant MELA-AU X 63453366 63453366 single base substitution T C upstream_gene_variant MELA-AU X 63453392 63453392 single base substitution C T upstream_gene_variant MELA-AU X 63453522 63453522 single base substitution G A upstream_gene_variant MELA-AU X 63453768 63453768 single base substitution C T upstream_gene_variant MELA-AU X 63453796 63453796 single base substitution G A upstream_gene_variant MELA-AU X 63453871 63453871 single base substitution C T upstream_gene_variant MELA-AU X 63454013 63454013 single base substitution C T upstream_gene_variant MELA-AU X 63454456 63454456 single base substitution G A upstream_gene_variant MELA-AU X 63454562 63454562 single base substitution G A upstream_gene_variant MELA-AU X 63454842 63454842 single base substitution G A upstream_gene_variant MELA-AU X 63455433 63455433 single base substitution C T upstream_gene_variant ORCA-IN X 63444265 63444265 single base substitution G T missense_variant Q294K 880C>A ORCA-IN X 63444265 63444265 single base substitution G T missense_variant Q303K 907C>A ORCA-IN X 63445019 63445019 single base substitution A T missense_variant L162Q 485T>A ORCA-IN X 63445019 63445019 single base substitution A T missense_variant L171Q 512T>A OV-AU X 63449049 63449049 single base substitution A G intron_variant OV-AU X 63449049 63449049 single base substitution A G upstream_gene_variant OV-AU X 63449731 63449731 single base substitution C A intron_variant OV-AU X 63449731 63449731 single base substitution C A upstream_gene_variant OV-AU X 63450973 63450973 single base substitution A G upstream_gene_variant OV-AU X 63452603 63452603 single base substitution T A upstream_gene_variant OV-US X 63445178 63445178 single base substitution T C missense_variant H109R 326A>G OV-US X 63445178 63445178 single base substitution T C missense_variant H118R 353A>G OV-US X 63445259 63445259 single base substitution A T missense_variant V82D 245T>A OV-US X 63445259 63445259 single base substitution A T missense_variant V91D 272T>A PACA-AU X 63451899 63451899 single base substitution A G upstream_gene_variant PACA-AU X 63453825 63453825 single base substitution G A upstream_gene_variant PACA-CA X 63440510 63440510 single base substitution C T downstream_gene_variant PACA-CA X 63440713 63440713 single base substitution G A downstream_gene_variant PACA-CA X 63444787 63444787 single base substitution A G synonymous_variant A239A 717T>C PACA-CA X 63444787 63444787 single base substitution A G synonymous_variant A248A 744T>C PACA-CA X 63449139 63449139 single base substitution G C intron_variant PACA-CA X 63449139 63449139 single base substitution G C upstream_gene_variant PACA-CA X 63451409 63451409 single base substitution C G upstream_gene_variant PBCA-DE X 63442559 63442559 single base substitution G T downstream_gene_variant PBCA-DE X 63445094 63445094 single base substitution G C missense_variant A137G 410C>G PBCA-DE X 63445094 63445094 single base substitution G C missense_variant A146G 437C>G PBCA-DE X 63449688 63449688 single base substitution C T intron_variant PBCA-DE X 63449688 63449688 single base substitution C T upstream_gene_variant PBCA-DE X 63450982 63450982 deletion of <=200bp A - upstream_gene_variant PBCA-DE X 63451509 63451509 single base substitution G A upstream_gene_variant PRAD-UK X 63450437 63450437 single base substitution C T 5_prime_UTR_variant PRAD-UK X 63450437 63450437 single base substitution C T upstream_gene_variant PRAD-UK X 63452474 63452474 single base substitution C G upstream_gene_variant READ-US X 63444307 63444307 single base substitution G A missense_variant R280C 838C>T READ-US X 63444307 63444307 single base substitution G A missense_variant R289C 865C>T READ-US X 63444768 63444768 single base substitution G T missense_variant L246I 736C>A READ-US X 63444768 63444768 single base substitution G T missense_variant L255I 763C>A READ-US X 63445158 63445158 single base substitution G C missense_variant L116V 346C>G READ-US X 63445158 63445158 single base substitution G C missense_variant L125V 373C>G RECA-EU X 63441336 63441336 single base substitution C A downstream_gene_variant SKCA-BR X 63440130 63440130 single base substitution C T downstream_gene_variant SKCA-BR X 63442914 63442914 single base substitution G A downstream_gene_variant SKCA-BR X 63443598 63443598 single base substitution C T downstream_gene_variant SKCA-BR X 63447649 63447649 single base substitution A C intron_variant SKCA-BR X 63447649 63447649 single base substitution A C upstream_gene_variant SKCA-BR X 63448408 63448408 single base substitution G A intron_variant SKCA-BR X 63448408 63448408 single base substitution G A upstream_gene_variant SKCA-BR X 63450384 63450384 single base substitution C T 5_prime_UTR_variant SKCA-BR X 63450384 63450384 single base substitution C T upstream_gene_variant SKCA-BR X 63450693 63450693 single base substitution T C upstream_gene_variant SKCA-BR X 63450717 63450717 single base substitution T C upstream_gene_variant SKCA-BR X 63453773 63453773 single base substitution C T upstream_gene_variant SKCA-BR X 63454760 63454760 insertion of <=200bp - TTA upstream_gene_variant SKCA-BR X 63455235 63455235 single base substitution T G upstream_gene_variant SKCM-US X 63444798 63444798 single base substitution C T missense_variant D236N 706G>A SKCM-US X 63444798 63444798 single base substitution C T missense_variant D245N 733G>A SKCM-US X 63444870 63444870 single base substitution G A missense_variant P212S 634C>T SKCM-US X 63444870 63444870 single base substitution G A missense_variant P221S 661C>T SKCM-US X 63444921 63444921 single base substitution C T missense_variant G195R 583G>A SKCM-US X 63444921 63444921 single base substitution C T missense_variant G204R 610G>A SKCM-US X 63445416 63445416 single base substitution G A missense_variant L30F 88C>T SKCM-US X 63445416 63445416 single base substitution G A missense_variant L39F 115C>T SKCM-US X 63445469 63445469 single base substitution A G missense_variant L12P 35T>C SKCM-US X 63445469 63445469 single base substitution A G missense_variant L21P 62T>C STAD-US X 63444306 63444306 single base substitution C T missense_variant R280H 839G>A STAD-US X 63444306 63444306 single base substitution C T missense_variant R289H 866G>A STAD-US X 63444310 63444310 single base substitution C T missense_variant V279I 835G>A STAD-US X 63444310 63444310 single base substitution C T missense_variant V288I 862G>A STAD-US X 63444967 63444967 single base substitution G A synonymous_variant A179A 537C>T STAD-US X 63444967 63444967 single base substitution G A synonymous_variant A188A 564C>T STAD-US X 63445207 63445207 single base substitution C T synonymous_variant T108T 324G>A STAD-US X 63445207 63445207 single base substitution C T synonymous_variant T99T 297G>A STAD-US X 63445479 63445479 single base substitution T C missense_variant I18V 52A>G STAD-US X 63445479 63445479 single base substitution T C missense_variant I9V 25A>G THCA-US X 63445422 63445422 single base substitution G A stop_gained Q28* 82C>T THCA-US X 63445422 63445422 single base substitution G A stop_gained Q37* 109C>T UCEC-US X 63444798 63444798 single base substitution C T missense_variant D236N 706G>A UCEC-US X 63444798 63444798 single base substitution C T missense_variant D245N 733G>A UCEC-US X 63444860 63444860 single base substitution C T missense_variant R215H 644G>A UCEC-US X 63444860 63444860 single base substitution C T missense_variant R224H 671G>A UCEC-US X 63444876 63444876 single base substitution G A missense_variant R210C 628C>T UCEC-US X 63444876 63444876 single base substitution G A missense_variant R219C 655C>T UCEC-US X 63444939 63444939 single base substitution G A missense_variant R189C 565C>T UCEC-US X 63444939 63444939 single base substitution G A missense_variant R198C 592C>T UCEC-US X 63444983 63444983 single base substitution C T missense_variant G174D 521G>A UCEC-US X 63444983 63444983 single base substitution C T missense_variant G183D 548G>A UCEC-US X 63444995 63444995 single base substitution G T missense_variant A170D 509C>A UCEC-US X 63444995 63444995 single base substitution G T missense_variant A179D 536C>A UCEC-US X 63445032 63445032 single base substitution C T missense_variant V158I 472G>A UCEC-US X 63445032 63445032 single base substitution C T missense_variant V167I 499G>A UCEC-US X 63445193 63445193 single base substitution G T missense_variant A104D 311C>A UCEC-US X 63445193 63445193 single base substitution G T missense_variant A113D 338C>A UCEC-US X 63445298 63445298 single base substitution C T missense_variant R69H 206G>A UCEC-US X 63445298 63445298 single base substitution C T missense_variant R78H 233G>A UCEC-US X 63445357 63445357 single base substitution C T synonymous_variant E49E 147G>A UCEC-US X 63445357 63445357 single base substitution C T synonymous_variant E58E 174G>A UCEC-US X 63445378 63445378 single base substitution C A missense_variant L42F 126G>T UCEC-US X 63445378 63445378 single base substitution C A missense_variant L51F 153G>T UCEC-US X 63445393 63445393 single base substitution G A synonymous_variant N37N 111C>T UCEC-US X 63445393 63445393 single base substitution G A synonymous_variant N46N 138C>T UCEC-US X 63445396 63445396 single base substitution G T missense_variant D36E 108C>A UCEC-US X 63445396 63445396 single base substitution G T missense_variant D45E 135C>A UCEC-US X 63445468 63445468 single base substitution G T synonymous_variant L12L 36C>A UCEC-US X 63445468 63445468 single base substitution G T synonymous_variant L21L 63C>A UCEC-US X 63445505 63445505 single base substitution T G missense_variant K9T 26A>C UCEC-US X 63445505 63445505 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11N-01 COSM1123951 c.111C>T p.N37N Substitution - coding silent 23:64225513-64225513 - TCGA-F5-6813-01 COSM1570086 c.373C>G p.L125V Substitution - Missense 23:64225278-64225278 - Pat_46_B COSM1123923 c.655C>T p.R219C Substitution - Missense 23:64224996-64224996 - 48 COSM5734453 c.109_111delAAC p.N37delN Deletion - In frame 23:64225513-64225515 - PD7201a COSM1123924 c.628C>T p.R210C Substitution - Missense 23:64224996-64224996 - TCGA-BS-A0TJ-01 COSM1123942 c.206G>A p.R69H Substitution - Missense 23:64225418-64225418 - TCGA-B5-A0K2-01 COSM1123963 c.11T>C p.M4T Substitution - Missense 23:64225613-64225613 - OSCC-GB_00610111 COSM4886740 c.880C>A p.Q294K Substitution - Missense 23:64224385-64224385 - TCGA-AP-A0LM-01 COSM1123948 c.126G>T p.L42F Substitution - Missense 23:64225498-64225498 - 39 COSM5733848 c.360C>A p.D120E Substitution - Missense 23:64225291-64225291 - 585260 COSM318796 c.411C>A p.Y137* Substitution - Nonsense 23:64225240-64225240 - 2521249 COSM124529 c.892C>T p.P298S Substitution - Missense 23:64224373-64224373 - 44 COSM1123941 c.233G>A p.R78H Substitution - Missense 23:64225418-64225418 - TCGA-06-0241-01 COSM2151175 c.323C>T p.T108M Substitution - Missense 23:64225328-64225328 - TCGA-B5-A0K9-01 COSM1123956 c.134A>G p.D45G Substitution - Missense 23:64225517-64225517 - TCGA-GN-A266-06 COSM3562717 c.583G>A p.G195R Substitution - Missense 23:64225041-64225041 - TCGA-EE-A3AE-06 COSM3914116 c.62T>C p.L21P Substitution - Missense 23:64225589-64225589 - TCGA-AX-A1C7-01 COSM1123953 c.135C>A p.D45E Substitution - Missense 23:64225516-64225516 - TCGA-AR-A2LE-01 COSM3845169 c.463G>A p.E155K Substitution - Missense 23:64225161-64225161 - 46M COSM5587221 c.462A>C p.A154A Substitution - coding silent 23:64225162-64225162 - TCGA-AX-A0J0-01 COSM1123917 c.733G>A p.D245N Substitution - Missense 23:64224918-64224918 - YURAY COSM5412917 c.852C>T p.V284V Substitution - coding silent 23:64224440-64224440 - C086 COSM5527001 c.442G>A p.E148K Substitution - Missense 23:64225182-64225182 - ESCC_5 COSM5623309 c.853C>T p.R285C Substitution - Missense 23:64224439-64224439 - TCGA-DC-5337-01 COSM1570092 c.865C>T p.R289C Substitution - Missense 23:64224427-64224427 - PD13757a COSM5718281 c.523C>T p.P175S Substitution - Missense 23:64225101-64225101 - TCGA-AN-A046-01 COSM3845172 c.218C>A p.S73Y Substitution - Missense 23:64225406-64225406 - TCGA-AX-A0J1-01 COSM1123938 c.338C>A p.A113D Substitution - Missense 23:64225313-64225313 - ESCC_9 COSM4156967 c.186T>G p.G62G Substitution - coding silent 23:64225438-64225438 - TCGA-B5-A0JY-01 COSM1123932 c.536C>A p.A179D Substitution - Missense 23:64225115-64225115 - TCGA-18-3409-01 COSM757893 c.930G>A p.L310L Substitution - coding silent 23:64224362-64224362 - HN_62686 COSM124530 c.127G>A p.D43N Substitution - Missense 23:64225497-64225497 - HCC022T COSM5817778 c.459T>G p.A153A Substitution - coding silent 23:64225192-64225192 - TCGA-EE-A3AE-06 COSM3914117 c.35T>C p.L12P Substitution - Missense 23:64225589-64225589 - TCGA-AP-A051-01 COSM1123936 c.472G>A p.V158I Substitution - Missense 23:64225152-64225152 - 587336 COSM1183721 c.644G>T p.R215L Substitution - Missense 23:64224980-64224980 - CHC1704T COSM4804121 c.800C>A p.T267N Substitution - Missense 23:64224465-64224465 - CSCC-40-T COSM4453855 c.332A>T p.D111V Substitution - Missense 23:64225292-64225292 - TCGA-AP-A051-01 COSM1123951 c.111C>T p.N37N Substitution - coding silent 23:64225513-64225513 - pfg017T COSM1644053 c.862G>A p.V288I Substitution - Missense 23:64224430-64224430 - ESCC-178T COSM2151176 c.296C>T p.T99M Substitution - Missense 23:64225328-64225328 - TCGA-61-2610-02 COSM1331757 c.437T>A p.L146Q Substitution - Missense 23:64225187-64225187 - ESCC_137 COSM4110546 c.537C>T p.A179A Substitution - coding silent 23:64225087-64225087 - CHC1704T COSM4804120 c.827C>A p.T276N Substitution - Missense 23:64224465-64224465 - PCSI_0083_Pa_P_526 COSM3379667 c.717T>C p.A239A Substitution - coding silent 23:64224907-64224907 - TCGA-24-0966-01 COSM73744 c.245T>A p.V82D Substitution - Missense 23:64225379-64225379 - TCGA-AP-A056-01 COSM1123927 c.565C>T p.R189C Substitution - Missense 23:64225059-64225059 - TCGA-CM-6172-01 COSM1468894 c.732C>T p.I244I Substitution - coding silent 23:64224919-64224919 - TCGA-13-1411-01 COSM1468900 c.353A>G p.H118R Substitution - Missense 23:64225298-64225298 - TCGA-FY-A3RA-01 COSM3372312 c.109C>T p.Q37* Substitution - Nonsense 23:64225542-64225542 - 2492708 COSM5718281 c.523C>T p.P175S Substitution - Missense 23:64225101-64225101 - S02291 COSM5687117 c.856G>C p.A286P Substitution - Missense 23:64224409-64224409 - TCGA-F5-6814-01 COSM3424896 c.763C>A p.L255I Substitution - Missense 23:64224888-64224888 - PD11369a COSM5789958 c.51G>T p.K17N Substitution - Missense 23:64225573-64225573 - TCGA-HF-7132-01 COSM4110546 c.537C>T p.A179A Substitution - coding silent 23:64225087-64225087 - TCGA-B5-A11R-01 COSM1123959 c.63C>A p.L21L Substitution - coding silent 23:64225588-64225588 - TCGA-F5-6813-01 COSM1570087 c.346C>G p.L116V Substitution - Missense 23:64225278-64225278 - TCGA-39-5019-01 COSM757884 c.241G>T p.A81S Substitution - Missense 23:64225410-64225410 - TCGA-B5-A11R-01 COSM1123960 c.36C>A p.L12L Substitution - coding silent 23:64225588-64225588 - TCGA-A8-A09G-01 COSM457842 c.189C>A p.F63L Substitution - Missense 23:64225462-64225462 - TCGA-AX-A0J0-01 COSM1123918 c.706G>A p.D236N Substitution - Missense 23:64224918-64224918 - ESCC_137 COSM4110545 c.564C>T p.A188A Substitution - coding silent 23:64225087-64225087 - Pat_46_B COSM1123924 c.628C>T p.R210C Substitution - Missense 23:64224996-64224996 - PCSI_0083_Pa_P_526 COSM3379666 c.744T>C p.A248A Substitution - coding silent 23:64224907-64224907 - pfg122T COSM4747368 c.715_716delGC p.A239fs*1 Deletion - Frameshift 23:64224908-64224909 - 48 COSM5734452 c.136_138delAAC p.N46delN Deletion - In frame 23:64225513-64225515 - S00832 COSM5661034 c.102G>A p.E34E Substitution - coding silent 23:64225549-64225549 - TCGA-13-1411-01 COSM73743 c.326A>G p.H109R Substitution - Missense 23:64225298-64225298 - TCGA-D1-A15X-01 COSM1123921 c.644G>A p.R215H Substitution - Missense 23:64224980-64224980 - 2250160 COSM5029701 c.856G>A p.A286T Substitution - Missense 23:64224409-64224409 - TCGA-06-0241 COSM2151176 c.296C>T p.T99M Substitution - Missense 23:64225328-64225328 - TCGA-BS-A0UV-01 COSM1123929 c.548G>A p.G183D Substitution - Missense 23:64225103-64225103 - BN50T COSM1626032 c.797-10C>T p.? Unknown 23:64224478-64224478 - STC297 COSM5064807 c.527C>G p.S176* Substitution - Nonsense 23:64225124-64225124 - TCGA-FW-A3R5-06 COSM3914113 c.115C>T p.L39F Substitution - Missense 23:64225536-64225536 - TCGA-D1-A15X-01 COSM1123920 c.671G>A p.R224H Substitution - Missense 23:64224980-64224980 - BN50T COSM1626031 c.824-10C>T p.? Unknown 23:64224478-64224478 - 46M COSM5587220 c.489A>C p.A163A Substitution - coding silent 23:64225162-64225162 - BD112T COSM5490909 c.494G>T p.W165L Substitution - Missense 23:64225130-64225130 - TCGA-AP-A056-01 COSM1123926 c.592C>T p.R198C Substitution - Missense 23:64225059-64225059 - TCGA-D9-A6EC-06 COSM1123918 c.706G>A p.D236N Substitution - Missense 23:64224918-64224918 - TCGA-F5-6814-01 COSM3424897 c.736C>A p.L246I Substitution - Missense 23:64224888-64224888 - PCSI_0083_Pa_P COSM3379667 c.717T>C p.A239A Substitution - coding silent 23:64224907-64224907 - TCGA-AG-A002-01 COSM289636 c.27G>T p.K9N Substitution - Missense 23:64225624-64225624 - TCGA-18-3409-01 COSM757894 c.903G>A p.L301L Substitution - coding silent 23:64224362-64224362 - TCGA-AP-A051-01 COSM1123950 c.138C>T p.N46N Substitution - coding silent 23:64225513-64225513 - TCGA-BR-6452-01 COSM4110551 c.52A>G p.I18V Substitution - Missense 23:64225599-64225599 - TCGA-DC-5337-01 COSM1570093 c.838C>T p.R280C Substitution - Missense 23:64224427-64224427 - TCGA-21-5782-01 COSM757888 c.328C>A p.L110M Substitution - Missense 23:64225296-64225296 - ACA12 COSM5961491 c.546C>T p.Y182Y Substitution - coding silent 23:64225078-64225078 - TCGA-B5-A11N-01 COSM1123950 c.138C>T p.N46N Substitution - coding silent 23:64225513-64225513 - TCGA-AR-A2LE-01 COSM3845168 c.490G>A p.E164K Substitution - Missense 23:64225161-64225161 - OSCC-GB_00610111 COSM4886739 c.907C>A p.Q303K Substitution - Missense 23:64224385-64224385 - TCGA-BS-A0TJ-01 COSM1123941 c.233G>A p.R78H Substitution - Missense 23:64225418-64225418 - TCGA-B0-4843-01 COSM1468897 c.354T>C p.H118H Substitution - coding silent 23:64225297-64225297 - CHC1704T COSM4804121 c.800C>A p.T267N Substitution - Missense 23:64224465-64224465 - RK193_C01 COSM3767025 c.281C>T p.A94V Substitution - Missense 23:64225370-64225370 - HN_62652 COSM124529 c.892C>T p.P298S Substitution - Missense 23:64224373-64224373 - TCGA-G3-A25V-01 COSM4914690 c.376A>G p.S126G Substitution - Missense 23:64225248-64225248 - HCC022T COSM5817775 c.490G>T p.E164* Substitution - Nonsense 23:64225161-64225161 - OSCC-GB_01010111 COSM4882304 c.485T>A p.L162Q Substitution - Missense 23:64225139-64225139 - RK193_C01 COSM3767026 c.254C>T p.A85V Substitution - Missense 23:64225370-64225370 - T33 COSM1177695 c.160T>A p.F54I Substitution - Missense 23:64225464-64225464 - TCGA-21-5782-01 COSM757887 c.355C>A p.L119M Substitution - Missense 23:64225296-64225296 - TCGA-B5-A0K9-01 COSM1123957 c.107A>G p.D36G Substitution - Missense 23:64225517-64225517 - ESCC_159 COSM4433952 c.566G>A p.R189H Substitution - Missense 23:64225058-64225058 - STC297 COSM5064810 c.185G>A p.R62H Substitution - Missense 23:64225466-64225466 - 435 COSM4433951 c.593G>A p.R198H Substitution - Missense 23:64225058-64225058 - TCGA-GF-A6C8-06 COSM1123917 c.733G>A p.D245N Substitution - Missense 23:64224918-64224918 - PD7201a COSM1123923 c.655C>T p.R219C Substitution - Missense 23:64224996-64224996 - PTC-70C COSM4156963 c.656G>C p.R219P Substitution - Missense 23:64224995-64224995 - C99 COSM4620573 c.307G>A p.D103N Substitution - Missense 23:64225344-64225344 - LUAD-YINHD COSM388590 c.288G>A p.K96K Substitution - coding silent 23:64225336-64225336 - TCGA-HF-7132-01 COSM4110545 c.564C>T p.A188A Substitution - coding silent 23:64225087-64225087 - TCGA-FW-A3R5-06 COSM3914114 c.88C>T p.L30F Substitution - Missense 23:64225536-64225536 - LUAD-5V8LT COSM403186 c.157C>A p.R53S Substitution - Missense 23:64225467-64225467 - TCGA-BS-A0UV-01 COSM1123930 c.521G>A p.G174D Substitution - Missense 23:64225103-64225103 - TCGA-G3-A25V-01 COSM4914689 c.403A>G p.S135G Substitution - Missense 23:64225248-64225248 - TCGA-BT-A20V-01 COSM422521 c.365C>T p.S122F Substitution - Missense 23:64225259-64225259 - TCGA-24-0966-01 COSM4947081 c.272T>A p.V91D Substitution - Missense 23:64225379-64225379 - TCGA-B0-4843-01 COSM1468898 c.327T>C p.H109H Substitution - coding silent 23:64225297-64225297 - pfg122T COSM4747367 c.742_743delGC p.A248fs*1 Deletion - Frameshift 23:64224908-64224909 - LUAD-YINHD COSM388589 c.315G>A p.K105K Substitution - coding silent 23:64225336-64225336 - TCGA-06-0241 COSM2151175 c.323C>T p.T108M Substitution - Missense 23:64225328-64225328 - PCSI_0083_Pa_P COSM3379666 c.744T>C p.A248A Substitution - coding silent 23:64224907-64224907 - PCSI_0083_Pa_X COSM3379667 c.717T>C p.A239A Substitution - coding silent 23:64224907-64224907 - 587336 COSM1183720 c.671G>T p.R224L Substitution - Missense 23:64224980-64224980 - PDA_100 COSM5003470 c.920C>T p.P307L Substitution - Missense 23:64224372-64224372 - TCGA-21-1070-01 COSM757891 c.526C>A p.L176I Substitution - Missense 23:64225098-64225098 - TCGA-GF-A6C8-06 COSM1123918 c.706G>A p.D236N Substitution - Missense 23:64224918-64224918 - TCGA-CM-6172-01 COSM1468895 c.705C>T p.I235I Substitution - coding silent 23:64224919-64224919 - TCGA-FY-A3RA-01 COSM3372313 c.82C>T p.Q28* Substitution - Nonsense 23:64225542-64225542 - OSCC-GB_01010111 COSM4882303 c.512T>A p.L171Q Substitution - Missense 23:64225139-64225139 - TCGA-BT-A20V-01 COSM422520 c.392C>T p.S131F Substitution - Missense 23:64225259-64225259 - TCGA-D1-A15X-01 COSM1123945 c.147G>A p.E49E Substitution - coding silent 23:64225477-64225477 - 2521249 COSM5888495 c.919C>T p.P307S Substitution - Missense 23:64224373-64224373 - TCGA-BR-6452-01 COSM4110548 c.324G>A p.T108T Substitution - coding silent 23:64225327-64225327 - TCGA-BR-A4QL-01 COSM4110543 c.839G>A p.R280H Substitution - Missense 23:64224426-64224426 - HCC022T COSM5817776 c.463G>T p.E155* Substitution - Nonsense 23:64225161-64225161 - 2492729 COSM5726944 c.139G>A p.D47N Substitution - Missense 23:64225512-64225512 - TCGA-BR-8690-01 COSM1644053 c.862G>A p.V288I Substitution - Missense 23:64224430-64224430 - ESCC_5 COSM5623310 c.826C>T p.R276C Substitution - Missense 23:64224439-64224439 - 44 COSM1123942 c.206G>A p.R69H Substitution - Missense 23:64225418-64225418 - TCGA-B5-A0K2-01 COSM1123962 c.38T>C p.M13T Substitution - Missense 23:64225613-64225613 - 435 COSM4433952 c.566G>A p.R189H Substitution - Missense 23:64225058-64225058 - CHC1704T COSM4804120 c.827C>A p.T276N Substitution - Missense 23:64224465-64224465 - TCGA-EE-A29D-06 COSM3562714 c.634C>T p.P212S Substitution - Missense 23:64224990-64224990 - TCGA-A8-A09G-01 COSM457843 c.162C>A p.F54L Substitution - Missense 23:64225462-64225462 - PDA_100 COSM5003471 c.893C>T p.P298L Substitution - Missense 23:64224372-64224372 - ACA12 COSM5961490 c.573C>T p.Y191Y Substitution - coding silent 23:64225078-64225078 - PTC-7C COSM4156966 c.213T>G p.G71G Substitution - coding silent 23:64225438-64225438 - PCSI_0083_Pa_X COSM3379666 c.744T>C p.A248A Substitution - coding silent 23:64224907-64224907 - 2250160 COSM5029700 c.883G>A p.A295T Substitution - Missense 23:64224409-64224409 - TCGA-06-0241-01 COSM2151176 c.296C>T p.T99M Substitution - Missense 23:64225328-64225328 - TCGA-BR-8690-01 COSM1644054 c.835G>A p.V279I Substitution - Missense 23:64224430-64224430 - TCGA-BR-A4QL-01 COSM4110542 c.866G>A p.R289H Substitution - Missense 23:64224426-64224426 - PTC-7C COSM4156967 c.186T>G p.G62G Substitution - coding silent 23:64225438-64225438 - pfg017T COSM1644054 c.835G>A p.V279I Substitution - Missense 23:64224430-64224430 - ESCC_159 COSM4433951 c.593G>A p.R198H Substitution - Missense 23:64225058-64225058 - TCGA-61-2610-02 COSM1331756 c.464T>A p.L155Q Substitution - Missense 23:64225187-64225187 - 585260 COSM318794 c.384C>A p.Y128* Substitution - Nonsense 23:64225240-64225240 - 2492729 COSM5726945 c.112G>A p.D38N Substitution - Missense 23:64225512-64225512 - BD112T COSM5490908 c.521G>T p.W174L Substitution - Missense 23:64225130-64225130 - ICGC_MB77 COSM3765024 c.437C>G p.A146G Substitution - Missense 23:64225214-64225214 - TCGA-AN-A046-01 COSM3845171 c.245C>A p.S82Y Substitution - Missense 23:64225406-64225406 - TCGA-D1-A17Q-01 COSM1123965 c.26A>C p.K9T Substitution - Missense 23:64225625-64225625 - TCGA-GN-A266-06 COSM3562716 c.610G>A p.G204R Substitution - Missense 23:64225041-64225041 - TCGA-AP-A0LM-01 COSM1123947 c.153G>T p.L51F Substitution - Missense 23:64225498-64225498 - TCGA-AP-A051-01 COSM1123935 c.499G>A p.V167I Substitution - Missense 23:64225152-64225152 - TCGA-D9-A6EC-06 COSM1123917 c.733G>A p.D245N Substitution - Missense 23:64224918-64224918 - TCGA-BR-6452-01 COSM4110549 c.297G>A p.T99T Substitution - coding silent 23:64225327-64225327 - TCGA-BR-6452-01 COSM4110552 c.25A>G p.I9V Substitution - Missense 23:64225599-64225599 - TCGA-21-1070-01 COSM757890 c.553C>A p.L185I Substitution - Missense 23:64225098-64225098 - TCGA-60-2720-01 COSM757882 c.27G>C p.K9N Substitution - Missense 23:64225624-64225624 - HCC022T COSM5817779 c.432T>G p.A144A Substitution - coding silent 23:64225192-64225192 - CSCC-40-T COSM4453854 c.359A>T p.D120V Substitution - Missense 23:64225292-64225292 - PTC-70C COSM4156964 c.629G>C p.R210P Substitution - Missense 23:64224995-64224995 - 39 COSM5733849 c.333C>A p.D111E Substitution - Missense 23:64225291-64225291 - TCGA-AX-A05Z-01 COSM1123923 c.655C>T p.R219C Substitution - Missense 23:64224996-64224996 - C99 COSM4620574 c.280G>A p.D94N Substitution - Missense 23:64225344-64225344 - STC297 COSM5064808 c.500C>G p.S167* Substitution - Nonsense 23:64225124-64225124 - 2492708 COSM5718280 c.550C>T p.P184S Substitution - Missense 23:64225101-64225101 - PD13757a COSM5718280 c.550C>T p.P184S Substitution - Missense 23:64225101-64225101 - TCGA-EE-A29D-06 COSM3562713 c.661C>T p.P221S Substitution - Missense 23:64224990-64224990 - KYSE-510 COSM3093848 c.169A>T p.S57C Substitution - Missense 23:64225455-64225455 - PD11369a COSM5789957 c.78G>T p.K26N Substitution - Missense 23:64225573-64225573 - ESCC_9 COSM4156966 c.213T>G p.G71G Substitution - coding silent 23:64225438-64225438 - C086 COSM5527000 c.469G>A p.E157K Substitution - Missense 23:64225182-64225182 - 949_T COSM3965412 c.417T>A p.R139R Substitution - coding silent 23:64225207-64225207 - ICGC_MB77 COSM3765025 c.410C>G p.A137G Substitution - Missense 23:64225214-64225214 - T33 COSM1177694 c.187T>A p.F63I Substitution - Missense 23:64225464-64225464 - TCGA-B5-A0JY-01 COSM1123933 c.509C>A p.A170D Substitution - Missense 23:64225115-64225115 - HCC60T COSM1626031 c.824-10C>T p.? Unknown 23:64224478-64224478 - KYSE-510 COSM3093847 c.196A>T p.S66C Substitution - Missense 23:64225455-64225455 - TCGA-AX-A1C7-01 COSM1123954 c.108C>A p.D36E Substitution - Missense 23:64225516-64225516 - TCGA-AX-A0J1-01 COSM1123939 c.311C>A p.A104D Substitution - Missense 23:64225313-64225313 - S00832 COSM5661035 c.75G>A p.E25E Substitution - coding silent 23:64225549-64225549 - S02291 COSM5687116 c.883G>C p.A295P Substitution - Missense 23:64224409-64224409 - 2497767 COSM5750248 c.238G>A p.A80T Substitution - Missense 23:64225413-64225413 - LUAD-5V8LT COSM403185 c.184C>A p.R62S Substitution - Missense 23:64225467-64225467 - YURAY COSM5412918 c.825C>T p.V275V Substitution - coding silent 23:64224440-64224440 - TCGA-D1-A15X-01 COSM1123944 c.174G>A p.E58E Substitution - coding silent 23:64225477-64225477 - TCGA-AF-5654-01 COSM1570089 c.752A>G p.Y251C Substitution - Missense 23:64224899-64224899 - STC297 COSM5064811 c.158G>A p.R53H Substitution - Missense 23:64225466-64225466 - ESCC-178T COSM2151175 c.323C>T p.T108M Substitution - Missense 23:64225328-64225328 - 949_T COSM3965411 c.444T>A p.R148R Substitution - coding silent 23:64225207-64225207 - 2497767 COSM5750249 c.211G>A p.A71T Substitution - Missense 23:64225413-64225413 - TCGA-39-5019-01 COSM757885 c.214G>T p.A72S Substitution - Missense 23:64225410-64225410 - HCC60T COSM1626032 c.797-10C>T p.? Unknown 23:64224478-64224478 - TCGA-AX-A05Z-01 COSM1123924 c.628C>T p.R210C Substitution - Missense 23:64224996-64224996 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.56281 Xq11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F111S c.332T>C X 63445199 LUAD A G Missense p.L21P c.62T>C X 63445469 CM A G Synonymous p.H118H c.354T>C X 63445177 RCCC A T Missense p.V91D c.272T>A X 63445259 OV C A Missense p.A81S c.241G>T X 63445290 LUSC C A Missense p.V124L c.370G>T X 63445161 LUAD C G Missense p.K9N c.27G>C X 63445504 LUSC C G Missense p.S115T c.344G>C X 63445187 HNSC CG TT Missense p.R285N c.853_854delinsAA X 63444318 CM C T 3-UTRSNV . c.954+95G>A X 63444123 CM C T Missense p.D52N c.154G>A X 63445377 HNSC C T Missense p.V288I c.862G>A X 63444310 STAD G A 3-UTRSNV . c.954+58C>T X 63444160 ESCA G A Missense p.L185F c.553C>T X 63444978 LUAD G A Missense p.P142S c.424C>T X 63445107 CM G A Missense p.P307S c.919C>T X 63444253 HNSC G A Missense p.S131F c.392C>T X 63445139 BLCA G A Missense p.T108M c.323C>T X 63445208 GBM G A Nonsense p.Q37* c.109C>T X 63445422 THCA G A Synonymous p.A300A c.900C>T X 63444272 HNSC G C Missense p.A146G c.437C>G X 63445094 MB G C Missense p.R289G c.865C>G X 63444307 LUAD G T Missense p.D45E c.135C>A X 63445396 UCEC G T Missense p.L119M c.355C>A X 63445176 LUSC G T Missense p.L185I c.553C>A X 63444978 LUSC G T Nonsense p.Y137* c.411C>A X 63445120 SCLC G T Synonymous p.L21L c.63C>A X 63445468 UCEC T C Missense p.H118R c.353A>G X 63445178 OV