Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 20 54970640 54970640 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr20:54970640G>A c.32G>A c.(31-33)cGc>cAc p.R11H BLCA 20 54974087 54974087 + Missense_Mutation SNP A A T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr20:54974087A>T c.710A>T c.(709-711)cAg>cTg p.Q237L BRCA 20 54974292 54974292 + Silent SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 g.chr20:54974292C>T c.915C>T c.(913-915)gaC>gaT p.D305D BRCA 20 54978525 54978525 + Splice_Site SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 g.chr20:54978525C>G c.1038C>G c.(1036-1038)ggC>ggG p.G346G BRCA 20 54978696 54978696 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr20:54978696A>G c.1209A>G c.(1207-1209)atA>atG p.I403M CESC 20 54974255 54974255 + Nonsense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr20:54974255C>G c.878C>G c.(877-879)tCa>tGa p.S293* COAD 20 54970639 54970639 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr20:54970639C>T c.31C>T c.(31-33)Cgc>Tgc p.R11C COAD 20 54972702 54972702 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:54972702C>A c.450C>A c.(448-450)gtC>gtA p.V150V COAD 20 54974080 54974080 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr20:54974080G>A c.703G>A c.(703-705)Gga>Aga p.G235R COAD 20 54974130 54974130 + Frame_Shift_Del DEL T T - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr20:54974130delT c.753delT c.(751-753)tgtfs p.C251fs COAD 20 54974209 54974209 + Missense_Mutation SNP G G A TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr20:54974209G>A c.832G>A c.(832-834)Gta>Ata p.V278I COADREAD 20 54970639 54970639 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr20:54970639C>T c.31C>T c.(31-33)Cgc>Tgc p.R11C COADREAD 20 54970683 54970683 + Silent SNP C C T TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr20:54970683C>T c.75C>T c.(73-75)gaC>gaT p.D25D COADREAD 20 54972702 54972702 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr20:54972702C>A c.450C>A c.(448-450)gtC>gtA p.V150V COADREAD 20 54974080 54974080 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr20:54974080G>A c.703G>A c.(703-705)Gga>Aga p.G235R COADREAD 20 54974130 54974130 + Frame_Shift_Del DEL T T - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr20:54974130delT c.753delT c.(751-753)tgtfs p.C251fs COADREAD 20 54974209 54974209 + Missense_Mutation SNP G G A TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr20:54974209G>A c.832G>A c.(832-834)Gta>Ata p.V278I ESCA 20 54978617 54978617 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr20:54978617G>A c.1130G>A c.(1129-1131)aGt>aAt p.S377N GBM 20 54974411 54974411 + Missense_Mutation SNP C C T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 g.chr20:54974411C>T c.1034C>T c.(1033-1035)aCg>aTg p.T345M GBM 20 54978729 54978729 + Silent SNP G G A TCGA-27-1834-01A-01W-0643-08 TCGA-27-1834-10A-01W-0644-08 g.chr20:54978729G>A c.1242G>A c.(1240-1242)acG>acA p.T414T GBMLGG 20 54972798 54972798 + Missense_Mutation SNP C C G TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 g.chr20:54972798C>G c.546C>G c.(544-546)caC>caG p.H182Q GBMLGG 20 54974333 54974333 + Missense_Mutation SNP A A G TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr20:54974333A>G c.956A>G c.(955-957)aAa>aGa p.K319R GBMLGG 20 54974411 54974411 + Missense_Mutation SNP C C T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 g.chr20:54974411C>T c.1034C>T c.(1033-1035)aCg>aTg p.T345M GBMLGG 20 54978729 54978729 + Silent SNP G G A TCGA-27-1834-01A-01W-0643-08 TCGA-27-1834-10A-01W-0644-08 g.chr20:54978729G>A c.1242G>A c.(1240-1242)acG>acA p.T414T HNSC 20 54972508 54972508 + Missense_Mutation SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr20:54972508A>T c.415A>T c.(415-417)Agg>Tgg p.R139W KIPAN 20 54972276 54972276 + Missense_Mutation SNP T T G TCGA-B9-A8YH-01A-11D-A36X-10 TCGA-B9-A8YH-10A-01D-A370-10 g.chr20:54972276T>G c.183T>G c.(181-183)gaT>gaG p.D61E KIPAN 20 54974310 54974310 + Silent SNP T T A TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr20:54974310T>A c.933T>A c.(931-933)tcT>tcA p.S311S KIRP 20 54972276 54972276 + Missense_Mutation SNP T T G TCGA-B9-A8YH-01A-11D-A36X-10 TCGA-B9-A8YH-10A-01D-A370-10 g.chr20:54972276T>G c.183T>G c.(181-183)gaT>gaG p.D61E KIRP 20 54974310 54974310 + Silent SNP T T A TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr20:54974310T>A c.933T>A c.(931-933)tcT>tcA p.S311S LGG 20 54972798 54972798 + Missense_Mutation SNP C C G TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 g.chr20:54972798C>G c.546C>G c.(544-546)caC>caG p.H182Q LGG 20 54974333 54974333 + Missense_Mutation SNP A A G TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr20:54974333A>G c.956A>G c.(955-957)aAa>aGa p.K319R LIHC 20 54978541 54978541 + Missense_Mutation SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr20:54978541C>T c.1054C>T c.(1054-1056)Cgc>Tgc p.R352C LUAD 20 54972262 54972262 + Splice_Site SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 g.chr20:54972262G>T c.e3-1 LUAD 20 54972379 54972379 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr20:54972379G>T c.286G>T c.(286-288)Gct>Tct p.A96S LUAD 20 54972439 54972439 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr20:54972439T>C c.346T>C c.(346-348)Tat>Cat p.Y116H LUAD 20 54974030 54974030 + Missense_Mutation SNP A A G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr20:54974030A>G c.653A>G c.(652-654)gAa>gGa p.E218G LUAD 20 54974129 54974129 + Missense_Mutation SNP G G T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr20:54974129G>T c.752G>T c.(751-753)tGt>tTt p.C251F LUAD 20 54974275 54974275 + Missense_Mutation SNP T T G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr20:54974275T>G c.898T>G c.(898-900)Ttt>Gtt p.F300V LUAD 20 54978523 54978523 + Splice_Site SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr20:54978523G>T c.e6-1 PAAD 20 54974226 54974226 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:54974226C>T c.849C>T c.(847-849)gaC>gaT p.D283D PAAD 20 54978770 54978770 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:54978770C>T c.1283C>T c.(1282-1284)tCg>tTg p.S428L PCPG 20 54970613 54970613 + Missense_Mutation SNP A A T TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 g.chr20:54970613A>T c.5A>T c.(4-6)tAc>tTc p.Y2F PCPG 20 54972305 54972305 + Missense_Mutation SNP G G T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 g.chr20:54972305G>T c.212G>T c.(211-213)cGt>cTt p.R71L READ 20 54970683 54970683 + Silent SNP C C T TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr20:54970683C>T c.75C>T c.(73-75)gaC>gaT p.D25D SKCM 20 54972518 54972518 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr20:54972518C>T c.425C>T c.(424-426)gCc>gTc p.A142V SKCM 20 54972519 54972519 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr20:54972519C>T c.426C>T c.(424-426)gcC>gcT p.A142A SKCM 20 54972861 54972861 + Silent SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr20:54972861C>T c.609C>T c.(607-609)tcC>tcT p.S203S SKCM 20 54974212 54974212 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr20:54974212A>C c.835A>C c.(835-837)Act>Cct p.T279P SKCM 20 54974321 54974321 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr20:54974321C>T c.944C>T c.(943-945)tCc>tTc p.S315F SKCM 20 54974330 54974330 + Missense_Mutation SNP C C T TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr20:54974330C>T c.953C>T c.(952-954)tCt>tTt p.S318F SKCM 20 54974341 54974341 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr20:54974341C>T c.964C>T c.(964-966)Ctc>Ttc p.L322F SKCM 20 54978716 54978716 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:54978716C>T c.1229C>T c.(1228-1230)cCc>cTc p.P410L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 20 54962584 54962584 single base substitution C T upstream_gene_variant BRCA-EU 20 54963007 54963007 single base substitution C A upstream_gene_variant BRCA-EU 20 54963577 54963577 single base substitution T G upstream_gene_variant BRCA-EU 20 54965169 54965169 single base substitution G T upstream_gene_variant BRCA-EU 20 54965397 54965397 single base substitution T C upstream_gene_variant BRCA-EU 20 54965480 54965480 single base substitution C T upstream_gene_variant BRCA-EU 20 54965645 54965645 single base substitution G A upstream_gene_variant BRCA-EU 20 54966111 54966111 single base substitution C T upstream_gene_variant BRCA-EU 20 54966398 54966398 single base substitution A G upstream_gene_variant BRCA-EU 20 54967109 54967109 single base substitution G C upstream_gene_variant BRCA-EU 20 54967405 54967405 single base substitution C G upstream_gene_variant BRCA-EU 20 54967996 54967996 single base substitution G C intron_variant BRCA-EU 20 54968434 54968434 single base substitution A G intron_variant BRCA-EU 20 54968475 54968475 single base substitution G C intron_variant BRCA-EU 20 54968527 54968527 single base substitution T G intron_variant BRCA-EU 20 54971510 54971510 single base substitution G C downstream_gene_variant BRCA-EU 20 54971510 54971510 single base substitution G C intron_variant BRCA-EU 20 54973042 54973042 single base substitution G C downstream_gene_variant BRCA-EU 20 54973042 54973042 single base substitution G C intron_variant BRCA-EU 20 54973214 54973214 deletion of <=200bp A - downstream_gene_variant BRCA-EU 20 54973214 54973214 deletion of <=200bp A - intron_variant BRCA-EU 20 54975231 54975232 deletion of <=200bp AA - downstream_gene_variant BRCA-EU 20 54975231 54975232 deletion of <=200bp AA - intron_variant BRCA-EU 20 54975484 54975484 single base substitution G C downstream_gene_variant BRCA-EU 20 54975484 54975484 single base substitution G C intron_variant BRCA-EU 20 54977096 54977096 single base substitution C A downstream_gene_variant BRCA-EU 20 54977096 54977096 single base substitution C A intron_variant BRCA-EU 20 54977314 54977314 single base substitution G T downstream_gene_variant BRCA-EU 20 54977314 54977314 single base substitution G T intron_variant BRCA-EU 20 54977444 54977444 single base substitution C G downstream_gene_variant BRCA-EU 20 54977444 54977444 single base substitution C G intron_variant BRCA-EU 20 54978067 54978067 single base substitution C G downstream_gene_variant BRCA-EU 20 54978067 54978067 single base substitution C G intron_variant BRCA-EU 20 54978545 54978545 single base substitution A G downstream_gene_variant BRCA-EU 20 54978545 54978545 single base substitution A G exon_variant BRCA-EU 20 54978545 54978545 single base substitution A G missense_variant Q353R 1058A>G BRCA-EU 20 54978636 54978636 single base substitution G A downstream_gene_variant BRCA-EU 20 54978636 54978636 single base substitution G A exon_variant BRCA-EU 20 54978636 54978636 single base substitution G A synonymous_variant S383S 1149G>A BRCA-EU 20 54979602 54979602 single base substitution C T downstream_gene_variant BRCA-EU 20 54980412 54980412 single base substitution G C downstream_gene_variant BRCA-EU 20 54980525 54980525 single base substitution A G downstream_gene_variant BRCA-EU 20 54980560 54980560 single base substitution C T downstream_gene_variant BRCA-EU 20 54980573 54980573 single base substitution C T downstream_gene_variant BRCA-EU 20 54982741 54982741 single base substitution C T downstream_gene_variant BRCA-EU 20 54983357 54983357 single base substitution G A downstream_gene_variant BRCA-EU 20 54983477 54983477 single base substitution A G downstream_gene_variant BRCA-EU 20 54984158 54984158 single base substitution C T downstream_gene_variant BRCA-FR 20 54963007 54963007 single base substitution C A upstream_gene_variant BRCA-FR 20 54968681 54968681 single base substitution G T intron_variant BRCA-FR 20 54975484 54975484 single base substitution G C downstream_gene_variant BRCA-FR 20 54975484 54975484 single base substitution G C intron_variant BRCA-FR 20 54978545 54978545 single base substitution A G downstream_gene_variant BRCA-FR 20 54978545 54978545 single base substitution A G exon_variant BRCA-FR 20 54978545 54978545 single base substitution A G missense_variant Q353R 1058A>G BRCA-FR 20 54978636 54978636 single base substitution G A downstream_gene_variant BRCA-FR 20 54978636 54978636 single base substitution G A exon_variant BRCA-FR 20 54978636 54978636 single base substitution G A synonymous_variant S383S 1149G>A BRCA-FR 20 54983357 54983357 single base substitution G A downstream_gene_variant BRCA-UK 20 54980437 54980437 single base substitution T G downstream_gene_variant BRCA-US 20 54963243 54963243 single base substitution G T upstream_gene_variant BRCA-US 20 54974292 54974292 single base substitution C T downstream_gene_variant BRCA-US 20 54974292 54974292 single base substitution C T exon_variant BRCA-US 20 54974292 54974292 single base substitution C T synonymous_variant D305D 915C>T BRCA-US 20 54978525 54978525 single base substitution C G downstream_gene_variant BRCA-US 20 54978525 54978525 single base substitution C G splice_region_variant BRCA-US 20 54978696 54978696 single base substitution A G downstream_gene_variant BRCA-US 20 54978696 54978696 single base substitution A G exon_variant BRCA-US 20 54978696 54978696 single base substitution A G missense_variant I403M 1209A>G CESC-US 20 54963252 54963252 single base substitution A C upstream_gene_variant CESC-US 20 54974255 54974255 single base substitution C G downstream_gene_variant CESC-US 20 54974255 54974255 single base substitution C G exon_variant CESC-US 20 54974255 54974255 single base substitution C G stop_gained S293* 878C>G CLLE-ES 20 54964912 54964912 single base substitution T C upstream_gene_variant CMDI-UK 20 54978534 54978534 single base substitution A T downstream_gene_variant CMDI-UK 20 54978534 54978534 single base substitution A T exon_variant CMDI-UK 20 54978534 54978534 single base substitution A T missense_variant L349F 1047A>T COAD-US 20 54970639 54970639 single base substitution C T exon_variant COAD-US 20 54970639 54970639 single base substitution C T missense_variant R11C 31C>T COAD-US 20 54972542 54972542 insertion of <=200bp - A downstream_gene_variant COAD-US 20 54972542 54972542 insertion of <=200bp - A splice_donor_variant COAD-US 20 54974080 54974080 single base substitution G A downstream_gene_variant COAD-US 20 54974080 54974080 single base substitution G A exon_variant COAD-US 20 54974080 54974080 single base substitution G A missense_variant G235R 703G>A COAD-US 20 54974130 54974130 deletion of <=200bp T - downstream_gene_variant COAD-US 20 54974130 54974130 deletion of <=200bp T - exon_variant COAD-US 20 54974130 54974130 deletion of <=200bp T - frameshift_variant C251 COAD-US 20 54978783 54978783 single base substitution A T downstream_gene_variant COAD-US 20 54978783 54978783 single base substitution A T exon_variant COAD-US 20 54978783 54978783 single base substitution A T stop_lost *432C 1296A>T COCA-CN 20 54972758 54972758 single base substitution T G downstream_gene_variant COCA-CN 20 54972758 54972758 single base substitution T G exon_variant COCA-CN 20 54972758 54972758 single base substitution T G missense_variant L169R 506T>G EOPC-DE 20 54976371 54976371 single base substitution T A downstream_gene_variant EOPC-DE 20 54976371 54976371 single base substitution T A intron_variant ESAD-UK 20 54962571 54962571 single base substitution C G upstream_gene_variant ESAD-UK 20 54963364 54963364 single base substitution A T upstream_gene_variant ESAD-UK 20 54964190 54964190 single base substitution T G upstream_gene_variant ESAD-UK 20 54964939 54964939 single base substitution A T upstream_gene_variant ESAD-UK 20 54965865 54965865 single base substitution A T upstream_gene_variant ESAD-UK 20 54966150 54966150 single base substitution G A upstream_gene_variant ESAD-UK 20 54968956 54968956 single base substitution A C intron_variant ESAD-UK 20 54970681 54970681 single base substitution G A exon_variant ESAD-UK 20 54970681 54970681 single base substitution G A missense_variant D25N 73G>A ESAD-UK 20 54972611 54972611 single base substitution G A downstream_gene_variant ESAD-UK 20 54972611 54972611 single base substitution G A intron_variant ESAD-UK 20 54972782 54972782 single base substitution C T downstream_gene_variant ESAD-UK 20 54972782 54972782 single base substitution C T exon_variant ESAD-UK 20 54972782 54972782 single base substitution C T missense_variant T177M 530C>T ESAD-UK 20 54974293 54974293 single base substitution G A downstream_gene_variant ESAD-UK 20 54974293 54974293 single base substitution G A exon_variant ESAD-UK 20 54974293 54974293 single base substitution G A missense_variant G306S 916G>A ESAD-UK 20 54975926 54975926 single base substitution C T downstream_gene_variant ESAD-UK 20 54975926 54975926 single base substitution C T intron_variant ESAD-UK 20 54976052 54976052 single base substitution G A downstream_gene_variant ESAD-UK 20 54976052 54976052 single base substitution G A intron_variant ESAD-UK 20 54976220 54976220 single base substitution G T downstream_gene_variant ESAD-UK 20 54976220 54976220 single base substitution G T intron_variant ESAD-UK 20 54976541 54976541 single base substitution T G downstream_gene_variant ESAD-UK 20 54976541 54976541 single base substitution T G intron_variant ESAD-UK 20 54976754 54976754 single base substitution A G downstream_gene_variant ESAD-UK 20 54976754 54976754 single base substitution A G intron_variant ESAD-UK 20 54980169 54980169 single base substitution A G downstream_gene_variant ESAD-UK 20 54982873 54982873 single base substitution G A downstream_gene_variant GBM-US 20 54974411 54974411 single base substitution C T downstream_gene_variant GBM-US 20 54974411 54974411 single base substitution C T missense_variant T345M 1034C>T GBM-US 20 54974411 54974411 single base substitution C T splice_region_variant GBM-US 20 54978729 54978729 single base substitution G A downstream_gene_variant GBM-US 20 54978729 54978729 single base substitution G A exon_variant GBM-US 20 54978729 54978729 single base substitution G A synonymous_variant T414T 1242G>A KIRP-US 20 54974310 54974310 single base substitution T A downstream_gene_variant KIRP-US 20 54974310 54974310 single base substitution T A exon_variant KIRP-US 20 54974310 54974310 single base substitution T A synonymous_variant S311S 933T>A LAML-KR 20 54968189 54968189 single base substitution C T intron_variant LGG-US 20 54974333 54974333 single base substitution A G downstream_gene_variant LGG-US 20 54974333 54974333 single base substitution A G exon_variant LGG-US 20 54974333 54974333 single base substitution A G missense_variant K319R 956A>G LICA-FR 20 54968189 54968189 single base substitution C T intron_variant LICA-FR 20 54983575 54983575 deletion of <=200bp A - downstream_gene_variant LINC-JP 20 54963087 54963087 single base substitution C A upstream_gene_variant LINC-JP 20 54965948 54965948 single base substitution A G upstream_gene_variant LINC-JP 20 54971573 54971573 single base substitution A T downstream_gene_variant LINC-JP 20 54971573 54971573 single base substitution A T intron_variant LINC-JP 20 54972497 54972497 single base substitution T A downstream_gene_variant LINC-JP 20 54972497 54972497 single base substitution T A exon_variant LINC-JP 20 54972497 54972497 single base substitution T A missense_variant L135H 404T>A LINC-JP 20 54978231 54978231 deletion of <=200bp T - downstream_gene_variant LINC-JP 20 54978231 54978231 deletion of <=200bp T - intron_variant LINC-JP 20 54980986 54980986 single base substitution A T downstream_gene_variant LIRI-JP 20 54962492 54962492 single base substitution G A upstream_gene_variant LIRI-JP 20 54962949 54962949 single base substitution C T upstream_gene_variant LIRI-JP 20 54966067 54966067 single base substitution T A upstream_gene_variant LIRI-JP 20 54968052 54968052 single base substitution C T intron_variant LIRI-JP 20 54968058 54968058 single base substitution T C intron_variant LIRI-JP 20 54968988 54968988 single base substitution A C intron_variant LIRI-JP 20 54970009 54970009 single base substitution A G intron_variant LIRI-JP 20 54973552 54973552 single base substitution A C downstream_gene_variant LIRI-JP 20 54973552 54973552 single base substitution A C intron_variant LIRI-JP 20 54975228 54975228 insertion of <=200bp - T downstream_gene_variant LIRI-JP 20 54975228 54975228 insertion of <=200bp - T intron_variant LIRI-JP 20 54975525 54975525 single base substitution A G downstream_gene_variant LIRI-JP 20 54975525 54975525 single base substitution A G intron_variant LIRI-JP 20 54976354 54976354 single base substitution G A downstream_gene_variant LIRI-JP 20 54976354 54976354 single base substitution G A intron_variant LIRI-JP 20 54982696 54982696 single base substitution G A downstream_gene_variant LIRI-JP 20 54984069 54984069 single base substitution A G downstream_gene_variant LIRI-JP 20 54984142 54984142 single base substitution C T downstream_gene_variant LUSC-KR 20 54968189 54968189 single base substitution C T intron_variant LUSC-KR 20 54974745 54974745 single base substitution G C downstream_gene_variant LUSC-KR 20 54974745 54974745 single base substitution G C intron_variant LUSC-KR 20 54982451 54982451 single base substitution G A downstream_gene_variant LUSC-KR 20 54983771 54983771 single base substitution G A downstream_gene_variant LUSC-US 20 54963223 54963223 single base substitution C A upstream_gene_variant MALY-DE 20 54975100 54975100 single base substitution G T downstream_gene_variant MALY-DE 20 54975100 54975100 single base substitution G T intron_variant MALY-DE 20 54975207 54975207 single base substitution A T downstream_gene_variant MALY-DE 20 54975207 54975207 single base substitution A T intron_variant MALY-DE 20 54979579 54979579 single base substitution G A downstream_gene_variant MALY-DE 20 54983061 54983061 single base substitution G A downstream_gene_variant MELA-AU 20 54963074 54963074 single base substitution A C upstream_gene_variant MELA-AU 20 54963162 54963162 single base substitution C T upstream_gene_variant MELA-AU 20 54963172 54963172 single base substitution G A upstream_gene_variant MELA-AU 20 54963340 54963340 single base substitution C T upstream_gene_variant MELA-AU 20 54963524 54963524 single base substitution G A upstream_gene_variant MELA-AU 20 54963883 54963883 single base substitution A T upstream_gene_variant MELA-AU 20 54964246 54964246 single base substitution G A upstream_gene_variant MELA-AU 20 54964726 54964726 single base substitution A G upstream_gene_variant MELA-AU 20 54967113 54967113 single base substitution A G upstream_gene_variant MELA-AU 20 54967174 54967174 single base substitution C T upstream_gene_variant MELA-AU 20 54967199 54967200 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 54967301 54967301 single base substitution A G upstream_gene_variant MELA-AU 20 54967381 54967381 single base substitution A G upstream_gene_variant MELA-AU 20 54967429 54967429 single base substitution G A 5_prime_UTR_variant MELA-AU 20 54967429 54967429 single base substitution G A exon_variant MELA-AU 20 54967429 54967429 single base substitution G A upstream_gene_variant MELA-AU 20 54967435 54967435 single base substitution G A 5_prime_UTR_variant MELA-AU 20 54967435 54967435 single base substitution G A exon_variant MELA-AU 20 54967435 54967435 single base substitution G A upstream_gene_variant MELA-AU 20 54967436 54967436 single base substitution G A 5_prime_UTR_variant MELA-AU 20 54967436 54967436 single base substitution G A exon_variant MELA-AU 20 54967436 54967436 single base substitution G A upstream_gene_variant MELA-AU 20 54968191 54968191 single base substitution C T intron_variant MELA-AU 20 54968244 54968244 single base substitution G A intron_variant MELA-AU 20 54968939 54968939 single base substitution C T intron_variant MELA-AU 20 54969196 54969196 single base substitution C T intron_variant MELA-AU 20 54969726 54969726 single base substitution C T intron_variant MELA-AU 20 54970420 54970420 single base substitution C A intron_variant MELA-AU 20 54970983 54970983 single base substitution G T exon_variant MELA-AU 20 54970983 54970983 single base substitution G T intron_variant MELA-AU 20 54971407 54971407 single base substitution C T downstream_gene_variant MELA-AU 20 54971407 54971407 single base substitution C T intron_variant MELA-AU 20 54971636 54971636 single base substitution C T downstream_gene_variant MELA-AU 20 54971636 54971636 single base substitution C T intron_variant MELA-AU 20 54973072 54973072 single base substitution C T downstream_gene_variant MELA-AU 20 54973072 54973072 single base substitution C T intron_variant MELA-AU 20 54973153 54973153 single base substitution T C downstream_gene_variant MELA-AU 20 54973153 54973153 single base substitution T C intron_variant MELA-AU 20 54973470 54973470 single base substitution C T downstream_gene_variant MELA-AU 20 54973470 54973470 single base substitution C T intron_variant MELA-AU 20 54974147 54974147 single base substitution C T downstream_gene_variant MELA-AU 20 54974147 54974147 single base substitution C T exon_variant MELA-AU 20 54974147 54974147 single base substitution C T missense_variant P257L 770C>T MELA-AU 20 54974165 54974165 single base substitution A C downstream_gene_variant MELA-AU 20 54974165 54974165 single base substitution A C exon_variant MELA-AU 20 54974165 54974165 single base substitution A C missense_variant D263A 788A>C MELA-AU 20 54974272 54974272 single base substitution A T downstream_gene_variant MELA-AU 20 54974272 54974272 single base substitution A T exon_variant MELA-AU 20 54974272 54974272 single base substitution A T missense_variant T299S 895A>T MELA-AU 20 54974672 54974672 single base substitution A G downstream_gene_variant MELA-AU 20 54974672 54974672 single base substitution A G intron_variant MELA-AU 20 54974962 54974962 single base substitution A T downstream_gene_variant MELA-AU 20 54974962 54974962 single base substitution A T intron_variant MELA-AU 20 54975926 54975926 single base substitution C T downstream_gene_variant MELA-AU 20 54975926 54975926 single base substitution C T intron_variant MELA-AU 20 54978390 54978390 deletion of <=200bp T - downstream_gene_variant MELA-AU 20 54978390 54978390 deletion of <=200bp T - intron_variant MELA-AU 20 54979496 54979496 single base substitution C T 3_prime_UTR_variant MELA-AU 20 54979496 54979496 single base substitution C T exon_variant MELA-AU 20 54980326 54980326 single base substitution G T downstream_gene_variant MELA-AU 20 54981980 54981980 single base substitution C T downstream_gene_variant MELA-AU 20 54982164 54982164 single base substitution G A downstream_gene_variant MELA-AU 20 54982999 54982999 single base substitution C T downstream_gene_variant MELA-AU 20 54983922 54983922 single base substitution A G downstream_gene_variant MELA-AU 20 54984463 54984463 single base substitution C T downstream_gene_variant ORCA-IN 20 54973446 54973446 single base substitution G A downstream_gene_variant ORCA-IN 20 54973446 54973446 single base substitution G A intron_variant OV-AU 20 54965638 54965638 single base substitution C T upstream_gene_variant OV-AU 20 54969522 54969522 single base substitution A C intron_variant OV-AU 20 54971986 54971986 single base substitution T C downstream_gene_variant OV-AU 20 54971986 54971986 single base substitution T C intron_variant OV-AU 20 54972939 54972939 single base substitution A G downstream_gene_variant OV-AU 20 54972939 54972939 single base substitution A G intron_variant OV-AU 20 54973374 54973374 single base substitution C A downstream_gene_variant OV-AU 20 54973374 54973374 single base substitution C A intron_variant OV-AU 20 54975916 54975916 single base substitution G A downstream_gene_variant OV-AU 20 54975916 54975916 single base substitution G A intron_variant OV-AU 20 54978669 54978669 single base substitution G A downstream_gene_variant OV-AU 20 54978669 54978669 single base substitution G A exon_variant OV-AU 20 54978669 54978669 single base substitution G A synonymous_variant L394L 1182G>A OV-AU 20 54982344 54982344 single base substitution A G downstream_gene_variant OV-AU 20 54984463 54984463 single base substitution C T downstream_gene_variant PACA-AU 20 54966955 54966955 single base substitution A C upstream_gene_variant PACA-AU 20 54969448 54969448 single base substitution G T intron_variant PACA-AU 20 54970310 54970310 single base substitution C T intron_variant PACA-AU 20 54972147 54972147 single base substitution A G downstream_gene_variant PACA-AU 20 54972147 54972147 single base substitution A G intron_variant PACA-AU 20 54972326 54972326 single base substitution G A downstream_gene_variant PACA-AU 20 54972326 54972326 single base substitution G A exon_variant PACA-AU 20 54972326 54972326 single base substitution G A missense_variant G78D 233G>A PACA-AU 20 54972520 54972520 single base substitution A T downstream_gene_variant PACA-AU 20 54972520 54972520 single base substitution A T exon_variant PACA-AU 20 54972520 54972520 single base substitution A T stop_gained K143* 427A>T PACA-AU 20 54974178 54974178 single base substitution C T downstream_gene_variant PACA-AU 20 54974178 54974178 single base substitution C T exon_variant PACA-AU 20 54974178 54974178 single base substitution C T synonymous_variant S267S 801C>T PACA-AU 20 54980266 54980266 insertion of <=200bp - T downstream_gene_variant PACA-AU 20 54981417 54981417 single base substitution G A downstream_gene_variant PACA-AU 20 54983949 54983949 single base substitution C A downstream_gene_variant PACA-CA 20 54963092 54963092 single base substitution C A upstream_gene_variant PACA-CA 20 54966407 54966407 single base substitution G A upstream_gene_variant PACA-CA 20 54967567 54967567 single base substitution G C 5_prime_UTR_variant PACA-CA 20 54967567 54967567 single base substitution G C exon_variant PACA-CA 20 54967567 54967567 single base substitution G C upstream_gene_variant PACA-CA 20 54970446 54970446 single base substitution G A intron_variant PACA-CA 20 54971804 54971804 single base substitution C A downstream_gene_variant PACA-CA 20 54971804 54971804 single base substitution C A intron_variant PACA-CA 20 54973790 54973790 single base substitution G C downstream_gene_variant PACA-CA 20 54973790 54973790 single base substitution G C intron_variant PACA-CA 20 54973854 54973854 single base substitution C T downstream_gene_variant PACA-CA 20 54973854 54973854 single base substitution C T intron_variant PACA-CA 20 54978645 54978645 single base substitution C T downstream_gene_variant PACA-CA 20 54978645 54978645 single base substitution C T exon_variant PACA-CA 20 54978645 54978645 single base substitution C T synonymous_variant A386A 1158C>T PACA-CA 20 54983431 54983431 single base substitution C T downstream_gene_variant PAEN-IT 20 54968201 54968201 single base substitution C T intron_variant PAEN-IT 20 54975007 54975007 single base substitution C A downstream_gene_variant PAEN-IT 20 54975007 54975007 single base substitution C A intron_variant PBCA-DE 20 54971161 54971161 single base substitution C T downstream_gene_variant PBCA-DE 20 54971161 54971161 single base substitution C T intron_variant PBCA-DE 20 54977420 54977420 single base substitution A T downstream_gene_variant PBCA-DE 20 54977420 54977420 single base substitution A T intron_variant PBCA-DE 20 54979240 54979240 single base substitution A G 3_prime_UTR_variant PBCA-DE 20 54979240 54979240 single base substitution A G downstream_gene_variant PBCA-DE 20 54979240 54979240 single base substitution A G exon_variant PRAD-CA 20 54968189 54968189 single base substitution C T intron_variant PRAD-CA 20 54968191 54968191 single base substitution C T intron_variant PRAD-CA 20 54969511 54969511 single base substitution C T intron_variant PRAD-CA 20 54969950 54969950 single base substitution T C intron_variant PRAD-CA 20 54979788 54979788 single base substitution G A downstream_gene_variant PRAD-UK 20 54967080 54967080 single base substitution C A upstream_gene_variant PRAD-UK 20 54967415 54967415 single base substitution C T upstream_gene_variant PRAD-UK 20 54967456 54967456 single base substitution C T 5_prime_UTR_variant PRAD-UK 20 54967456 54967456 single base substitution C T exon_variant PRAD-UK 20 54967456 54967456 single base substitution C T upstream_gene_variant PRAD-UK 20 54967457 54967457 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 20 54967457 54967457 single base substitution A T exon_variant PRAD-UK 20 54967457 54967457 single base substitution A T upstream_gene_variant RECA-EU 20 54967458 54967458 single base substitution G A 5_prime_UTR_variant RECA-EU 20 54967458 54967458 single base substitution G A exon_variant RECA-EU 20 54967458 54967458 single base substitution G A upstream_gene_variant RECA-EU 20 54968568 54968568 single base substitution G T intron_variant RECA-EU 20 54971097 54971097 single base substitution A G downstream_gene_variant RECA-EU 20 54971097 54971097 single base substitution A G intron_variant RECA-EU 20 54981305 54981305 single base substitution A C downstream_gene_variant SKCA-BR 20 54962772 54962772 single base substitution T G upstream_gene_variant SKCA-BR 20 54964711 54964711 single base substitution G A upstream_gene_variant SKCA-BR 20 54965901 54965901 single base substitution C A upstream_gene_variant SKCA-BR 20 54967302 54967302 single base substitution C T upstream_gene_variant SKCA-BR 20 54967404 54967404 single base substitution G A upstream_gene_variant SKCA-BR 20 54968189 54968189 single base substitution C T intron_variant SKCA-BR 20 54968215 54968217 deletion of <=200bp TAC - intron_variant SKCA-BR 20 54968223 54968223 single base substitution C T intron_variant SKCA-BR 20 54968870 54968870 single base substitution C T intron_variant SKCA-BR 20 54973085 54973085 single base substitution C T downstream_gene_variant SKCA-BR 20 54973085 54973085 single base substitution C T intron_variant SKCA-BR 20 54978861 54978861 single base substitution C T 3_prime_UTR_variant SKCA-BR 20 54978861 54978861 single base substitution C T downstream_gene_variant SKCA-BR 20 54978861 54978861 single base substitution C T exon_variant SKCA-BR 20 54978862 54978862 single base substitution C T 3_prime_UTR_variant SKCA-BR 20 54978862 54978862 single base substitution C T downstream_gene_variant SKCA-BR 20 54978862 54978862 single base substitution C T exon_variant SKCA-BR 20 54980732 54980732 single base substitution C T downstream_gene_variant SKCM-US 20 54972861 54972861 single base substitution C T downstream_gene_variant SKCM-US 20 54972861 54972861 single base substitution C T exon_variant SKCM-US 20 54972861 54972861 single base substitution C T synonymous_variant S203S 609C>T SKCM-US 20 54974212 54974212 single base substitution A C downstream_gene_variant SKCM-US 20 54974212 54974212 single base substitution A C exon_variant SKCM-US 20 54974212 54974212 single base substitution A C missense_variant T279P 835A>C SKCM-US 20 54974321 54974321 single base substitution C T downstream_gene_variant SKCM-US 20 54974321 54974321 single base substitution C T exon_variant SKCM-US 20 54974321 54974321 single base substitution C T missense_variant S315F 944C>T SKCM-US 20 54974330 54974330 single base substitution C T downstream_gene_variant SKCM-US 20 54974330 54974330 single base substitution C T exon_variant SKCM-US 20 54974330 54974330 single base substitution C T missense_variant S318F 953C>T SKCM-US 20 54974341 54974341 single base substitution C T downstream_gene_variant SKCM-US 20 54974341 54974341 single base substitution C T exon_variant SKCM-US 20 54974341 54974341 single base substitution C T missense_variant L322F 964C>T SKCM-US 20 54978716 54978716 single base substitution C T downstream_gene_variant SKCM-US 20 54978716 54978716 single base substitution C T exon_variant SKCM-US 20 54978716 54978716 single base substitution C T missense_variant P410L 1229C>T STAD-US 20 54970640 54970640 single base substitution G A exon_variant STAD-US 20 54970640 54970640 single base substitution G A missense_variant R11H 32G>A STAD-US 20 54972482 54972482 single base substitution C T downstream_gene_variant STAD-US 20 54972482 54972482 single base substitution C T exon_variant STAD-US 20 54972482 54972482 single base substitution C T missense_variant A130V 389C>T STAD-US 20 54972832 54972832 single base substitution G A downstream_gene_variant STAD-US 20 54972832 54972832 single base substitution G A exon_variant STAD-US 20 54972832 54972832 single base substitution G A missense_variant D194N 580G>A STAD-US 20 54974190 54974190 single base substitution T A downstream_gene_variant STAD-US 20 54974190 54974190 single base substitution T A exon_variant STAD-US 20 54974190 54974190 single base substitution T A missense_variant N271K 813T>A STAD-US 20 54978560 54978560 single base substitution A G downstream_gene_variant STAD-US 20 54978560 54978560 single base substitution A G exon_variant STAD-US 20 54978560 54978560 single base substitution A G missense_variant Q358R 1073A>G STAD-US 20 54978601 54978601 single base substitution G A downstream_gene_variant STAD-US 20 54978601 54978601 single base substitution G A exon_variant STAD-US 20 54978601 54978601 single base substitution G A missense_variant D372N 1114G>A STAD-US 20 54978709 54978709 single base substitution A G downstream_gene_variant STAD-US 20 54978709 54978709 single base substitution A G exon_variant STAD-US 20 54978709 54978709 single base substitution A G missense_variant T408A 1222A>G THCA-SA 20 54967065 54967065 single base substitution G C upstream_gene_variant UCEC-US 20 54970682 54970682 single base substitution A G exon_variant UCEC-US 20 54970682 54970682 single base substitution A G missense_variant D25G 74A>G UCEC-US 20 54972347 54972347 single base substitution T G downstream_gene_variant UCEC-US 20 54972347 54972347 single base substitution T G exon_variant UCEC-US 20 54972347 54972347 single base substitution T G missense_variant F85C 254T>G UCEC-US 20 54972476 54972476 single base substitution C A downstream_gene_variant UCEC-US 20 54972476 54972476 single base substitution C A exon_variant UCEC-US 20 54972476 54972476 single base substitution C A missense_variant A128D 383C>A UCEC-US 20 54972782 54972782 single base substitution C T downstream_gene_variant UCEC-US 20 54972782 54972782 single base substitution C T exon_variant UCEC-US 20 54972782 54972782 single base substitution C T missense_variant T177M 530C>T UCEC-US 20 54974178 54974178 single base substitution C T downstream_gene_variant UCEC-US 20 54974178 54974178 single base substitution C T exon_variant UCEC-US 20 54974178 54974178 single base substitution C T synonymous_variant S267S 801C>T UCEC-US 20 54978735 54978735 single base substitution C T downstream_gene_variant UCEC-US 20 54978735 54978735 single base substitution C T exon_variant UCEC-US 20 54978735 54978735 single base substitution C T synonymous_variant S416S 1248C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand EV006-LN1a COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + HCC174 COSM3707855 c.404T>A p.L135H Substitution - Missense 20:56397441-56397441 + TCGA-AG-A025-01 COSM290361 c.75C>T p.D25D Substitution - coding silent 20:56395627-56395627 + PAPNNX COSM2763942 c.1092C>T p.T364T Substitution - coding silent 20:56403523-56403523 + 8069456 COSM4388988 c.233G>A p.G78D Substitution - Missense 20:56397270-56397270 + C135 COSM4618047 c.420G>A p.M140I Substitution - Missense 20:56397457-56397457 + TCGA-BR-8372-01 COSM4099644 c.1114G>A p.D372N Substitution - Missense 20:56403545-56403545 + TCGA-AP-A051-01 COSM1028268 c.530C>T p.T177M Substitution - Missense 20:56397726-56397726 + HCC174T COSM3707855 c.404T>A p.L135H Substitution - Missense 20:56397441-56397441 + MO_1012 COSM3405220 c.1242G>A p.T414T Substitution - coding silent 20:56403673-56403673 + LUAD-B00416 COSM331222 c.493G>A p.V165M Substitution - Missense 20:56397689-56397689 + TCGA-CD-A4MG-01 COSM4099644 c.1114G>A p.D372N Substitution - Missense 20:56403545-56403545 + TCGA-AA-A010-01 COSM280193 c.450C>A p.V150V Substitution - coding silent 20:56397646-56397646 + TCGA-AX-A05Z-01 COSM1028266 c.254T>G p.F85C Substitution - Missense 20:56397291-56397291 + D17 COSM5007283 c.875T>A p.V292D Substitution - Missense 20:56399196-56399196 + LUAD-RT-S01810 COSM382870 c.1129A>T p.S377C Substitution - Missense 20:56403560-56403560 + EV006-R15 COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + 585208 COSM325090 c.28G>T p.D10Y Substitution - Missense 20:56395580-56395580 + 8047881 COSM3389842 c.427A>T p.K143* Substitution - Nonsense 20:56397464-56397464 + TCGA-BR-7197-01 COSM4099639 c.32G>A p.R11H Substitution - Missense 20:56395584-56395584 + PT19_2 COSM5943419 c.921_942del22 p.E308fs*15 Deletion - Frameshift 20:56399242-56399263 + TCGA-HT-7687-01 COSM3972624 c.956A>G p.K319R Substitution - Missense 20:56399277-56399277 + Pat_76_A COSM5858146 c.769C>T p.P257S Substitution - Missense 20:56399090-56399090 + TCGA-F1-6874-01 COSM4099642 c.813T>A p.N271K Substitution - Missense 20:56399134-56399134 + STC252 COSM1202540 c.1277G>A p.R426Q Substitution - Missense 20:56403708-56403708 + TCGA-B6-A0I6-01 COSM3841351 c.1038C>G p.G346G Substitution - coding silent 20:56403469-56403469 + TCGA-CG-5723-01 COSM4099643 c.1073A>G p.Q358R Substitution - Missense 20:56403504-56403504 + TCGA-B7-5816-01 COSM4099645 c.1222A>G p.T408A Substitution - Missense 20:56403653-56403653 + TCGA-D8-A1XK-01 COSM3841352 c.1209A>G p.I403M Substitution - Missense 20:56403640-56403640 + TCGA-EE-A3AE-06 COSM3548025 c.609C>T p.S203S Substitution - coding silent 20:56397805-56397805 + TCGA-BP-4167-01 COSM1136803 c.1021C>T p.L341L Substitution - coding silent 20:56399342-56399342 + TCGA-AD-6964-01 COSM1412620 c.703G>A p.G235R Substitution - Missense 20:56399024-56399024 + TCGA-F4-6856-01 COSM1412621 c.753delT p.F252fs*27 Deletion - Frameshift 20:56399074-56399074 + 32 COSM5733329 c.535C>T p.L179F Substitution - Missense 20:56397731-56397731 + CSCC-27-T COSM4507894 c.759C>T p.V253V Substitution - coding silent 20:56399080-56399080 + TCGA-AP-A059-01 COSM1028267 c.383C>A p.A128D Substitution - Missense 20:56397420-56397420 + Pat_41_B COSM5858147 c.1261G>A p.A421T Substitution - Missense 20:56403692-56403692 + TCGA-D9-A6EC-06 COSM4403088 c.835A>C p.T279P Substitution - Missense 20:56399156-56399156 + WA16 COSM239469 c.1054C>T p.R352C Substitution - Missense 20:56403485-56403485 + TCGA-BS-A0TE-01 COSM1028270 c.1248C>T p.S416S Substitution - coding silent 20:56403679-56403679 + EWS834 COSM4581901 c.702C>T p.V234V Substitution - coding silent 20:56399023-56399023 + TCGA-AX-A0J1-01 COSM1028269 c.801C>T p.S267S Substitution - coding silent 20:56399122-56399122 + TCGA-EE-A2MS-06 COSM3548026 c.944C>T p.S315F Substitution - Missense 20:56399265-56399265 + SJMB038 COSM255927 c.499C>T p.R167* Substitution - Nonsense 20:56397695-56397695 + TCGA-D1-A176-01 COSM1028264 c.154C>T p.H52Y Substitution - Missense 20:56395706-56395706 + EV006-R3 COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + EV006-R7 COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + TCGA-CK-5914-01 COSM5154262 c.447+2_447+3insA p.? Unknown 20:56397486-56397487 + TCGA-B5-A0K9-01 COSM1028265 c.169G>A p.G57R Substitution - Missense 20:56395721-56395721 + T2963 COSM4675230 c.1124C>T p.T375M Substitution - Missense 20:56403555-56403555 + T3262 COSM4675227 c.634A>G p.K212E Substitution - Missense 20:56397830-56397830 + TCGA-EE-A181-06 COSM3548028 c.964C>T p.L322F Substitution - Missense 20:56399285-56399285 + PCSI_0083_Pa_P COSM3379092 c.1158C>T p.A386A Substitution - coding silent 20:56403589-56403589 + CAL27 COSM2763941 c.951T>A p.N317K Substitution - Missense 20:56399272-56399272 + TCGA-EK-A2RA-01 COSM4848348 c.878C>G p.S293* Substitution - Nonsense 20:56399199-56399199 + TCGA-AA-3977-01 COSM5119033 c.1036+3A>G p.? Unknown 20:56399360-56399360 + TCGA-G4-6302-01 COSM1412619 c.31C>T p.R11C Substitution - Missense 20:56395583-56395583 + 587378 COSM1202540 c.1277G>A p.R426Q Substitution - Missense 20:56403708-56403708 + TCGA-27-1834-01 COSM3405220 c.1242G>A p.T414T Substitution - coding silent 20:56403673-56403673 + EV006-R1 COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + TCGA-B9-5155-01 COSM3991796 c.933T>A p.S311S Substitution - coding silent 20:56399254-56399254 + T55 COSM4675231 c.1148C>T p.S383L Substitution - Missense 20:56403579-56403579 + sysucc-882T COSM5447377 c.506T>G p.L169R Substitution - Missense 20:56397702-56397702 + 8016470 COSM1028269 c.801C>T p.S267S Substitution - coding silent 20:56399122-56399122 + Pat_76_B COSM5858146 c.769C>T p.P257S Substitution - Missense 20:56399090-56399090 + LS411 COSM2763926 c.181G>A p.D61N Substitution - Missense 20:56397218-56397218 + TCGA-EE-A29H-06 COSM3548027 c.953C>T p.S318F Substitution - Missense 20:56399274-56399274 + EV006-R4 COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + T3091 COSM4675228 c.866G>T p.W289L Substitution - Missense 20:56399187-56399187 + SJMB038 COSM255927 c.499C>T p.R167* Substitution - Nonsense 20:56397695-56397695 + T55 COSM4675234 c.1296A>G p.*432W Nonstop extension 20:56403727-56403727 + 2530678 COSM5885407 c.733G>A p.D245N Substitution - Missense 20:56399054-56399054 + H358 COSM1194131 c.828G>A p.M276I Substitution - Missense 20:56399149-56399149 + Br27P COSM40000 c.99C>T p.G33G Substitution - coding silent 20:56395651-56395651 + Pat_05_A COSM293448 c.832G>A p.V278I Substitution - Missense 20:56399153-56399153 + PCSI_0083_Pa_P_526 COSM3379092 c.1158C>T p.A386A Substitution - coding silent 20:56403589-56403589 + PD4179a COSM130447 c.1047A>T p.L349F Substitution - Missense 20:56403478-56403478 + AOCS-059-1-8 COSM4137057 c.1182G>A p.L394L Substitution - coding silent 20:56403613-56403613 + TCGA-CM-4746-01 COSM1412619 c.31C>T p.R11C Substitution - Missense 20:56395583-56395583 + TCGA-BG-A0MQ-01 COSM1028263 c.74A>G p.D25G Substitution - Missense 20:56395626-56395626 + TCGA-CG-5726-01 COSM4099640 c.389C>T p.A130V Substitution - Missense 20:56397426-56397426 + EV006-R6 COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + EV006-R2 COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + ME030T COSM227171 c.665C>T p.S222F Substitution - Missense 20:56398986-56398986 + T204 COSM4675233 c.1241C>T p.T414M Substitution - Missense 20:56403672-56403672 + YULAD COSM5392375 c.278C>T p.S93F Substitution - Missense 20:56397315-56397315 + TCGA-FW-A3R5-06 COSM3911630 c.1229C>T p.P410L Substitution - Missense 20:56403660-56403660 + TCGA-FP-8099-01 COSM4099641 c.580G>A p.D194N Substitution - Missense 20:56397776-56397776 + T3262 COSM4675226 c.466G>A p.A156T Substitution - Missense 20:56397662-56397662 + TCGA-AA-3492-01 COSM3693700 c.1296A>T p.*432C Nonstop extension 20:56403727-56403727 + T2944 COSM4675232 c.1230C>T p.P410P Substitution - coding silent 20:56403661-56403661 + TCGA-26-5134-01 COSM2157026 c.1034C>T p.T345M Substitution - Missense 20:56399355-56399355 + T2284 COSM4675229 c.1011G>A p.T337T Substitution - coding silent 20:56399332-56399332 + TCGA-AA-3696-01 COSM293448 c.832G>A p.V278I Substitution - Missense 20:56399153-56399153 + SC_9047 COSM5569960 c.1285A>T p.T429S Substitution - Missense 20:56403716-56403716 + ACINAR28 COSM1734883 c.396A>G p.I132M Substitution - Missense 20:56397433-56397433 + SC_9081 COSM5571330 c.1104G>A p.V368V Substitution - coding silent 20:56403535-56403535 + EV006-LN1b COSM4410879 c.585T>A p.Y195* Substitution - Nonsense 20:56397781-56397781 + TCGA-26-5134 COSM2157026 c.1034C>T p.T345M Substitution - Missense 20:56399355-56399355 + TCGA-E9-A1R5-01 COSM1483777 c.915C>T p.D305D Substitution - coding silent 20:56399236-56399236 + HCA7 COSM4630598 c.630C>A p.A210A Substitution - coding silent 20:56397826-56397826 + PCSI_0083_Pa_X COSM3379092 c.1158C>T p.A386A Substitution - coding silent 20:56403589-56403589 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.172865 20q13.2 600369

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D25G c.74A>G 20 54970682 UCEC A G Missense p.K319R c.956A>G 20 54974333 LGG A G Missense p.T408A c.1222A>G 20 54978709 STAD CC TT Missense p.A142V c.425_426delinsTT 20 54972518 CM C T Missense p.A130V c.389C>T 20 54972482 STAD C T Missense p.L322F c.964C>T 20 54974341 CM C T Missense p.S222F c.665C>T 20 54974042 CM C T Missense p.S315F c.944C>T 20 54974321 CM C T Missense p.S318F c.953C>T 20 54974330 CM C T Missense p.T345M c.1034C>T 20 54974411 GBM C T Synonymous p.D305D c.915C>T 20 54974292 BRCA C T Synonymous p.G33G c.99C>T 20 54970707 GBM C T Synonymous p.S203S c.609C>T 20 54972861 CM C T Synonymous p.S416S c.1248C>T 20 54978735 UCEC G A Missense p.D194N c.580G>A 20 54972832 HNSC G A Missense p.V278I c.832G>A 20 54974209 COREAD G A Synonymous p.T414T c.1242G>A 20 54978729 GBM G T Missense p.D10Y c.28G>T 20 54970636 SCLC T A Missense p.N271K c.813T>A 20 54974190 STAD