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 5 137682532 137682532 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:137682532G>A c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K BRCA 5 137680989 137680989 + Silent SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr5:137680989A>C c.612A>C c.(610-612)cgA>cgC p.R204R BRCA 5 137681156 137681162 + Frame_Shift_Del DEL GGCGACC GGCGACC - TCGA-BH-A0RX-01A-21D-A099-09 TCGA-BH-A0RX-10A-01D-A099-09 g.chr5:137681156_137681162delGGCGACC c.779_785delGGCGACC c.(778-786)tggcgacctfs p.WRP260fs BRCA 5 137681206 137681206 + Missense_Mutation SNP G G A TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr5:137681206G>A c.829G>A c.(829-831)Gat>Aat p.D277N BRCA 5 137681244 137681244 + Silent SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 g.chr5:137681244C>T c.867C>T c.(865-867)caC>caT p.H289H BRCA 5 137682473 137682474 + Frame_Shift_Ins INS - - C TCGA-A2-A0CZ-01A-11W-A050-09 TCGA-A2-A0CZ-10A-01W-A055-09 g.chr5:137682473_137682474insC c.1004_1005insC c.(1003-1008)agccccfs p.SP335fs COAD 5 137680536 137680537 + Frame_Shift_Ins INS - - C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:137680536_137680537insC c.159_160insC c.(160-162)cccfs p.P54fs COAD 5 137680836 137680836 + Silent SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:137680836G>T c.459G>T c.(457-459)ggG>ggT p.G153G COAD 5 137680935 137680935 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:137680935C>T c.558C>T c.(556-558)caC>caT p.H186H COAD 5 137680987 137680987 + Nonsense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:137680987C>T c.610C>T c.(610-612)Cga>Tga p.R204* COAD 5 137682516 137682516 + Silent SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:137682516C>A c.1047C>A c.(1045-1047)tcC>tcA p.S349S COAD 5 137682541 137682543 + In_Frame_Del DEL GAG GAG - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:137682541_137682543delGAG c.1072_1074delGAG c.(1072-1074)gagdel p.E361del COAD 5 137682560 137682560 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr5:137682560T>C c.1091T>C c.(1090-1092)gTg>gCg p.V364A COAD 5 137682561 137682561 + Silent SNP G G A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr5:137682561G>A c.1092G>A c.(1090-1092)gtG>gtA p.V364V COAD 5 137682561 137682561 + Silent SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr5:137682561G>A c.1092G>A c.(1090-1092)gtG>gtA p.V364V COAD 5 137682562 137682562 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:137682562C>T c.1093C>T c.(1093-1095)Cgg>Tgg p.R365W COADREAD 5 137680523 137680523 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:137680523C>T c.146C>T c.(145-147)tCc>tTc p.S49F COADREAD 5 137680536 137680537 + Frame_Shift_Ins INS - - C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:137680536_137680537insC c.159_160insC c.(160-162)cccfs p.P54fs COADREAD 5 137680836 137680836 + Silent SNP G G T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:137680836G>T c.459G>T c.(457-459)ggG>ggT p.G153G COADREAD 5 137680935 137680935 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:137680935C>T c.558C>T c.(556-558)caC>caT p.H186H COADREAD 5 137680987 137680987 + Nonsense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:137680987C>T c.610C>T c.(610-612)Cga>Tga p.R204* COADREAD 5 137681298 137681298 + Splice_Site SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:137681298G>T c.921G>T c.(919-921)caG>caT p.Q307H COADREAD 5 137682516 137682516 + Silent SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:137682516C>A c.1047C>A c.(1045-1047)tcC>tcA p.S349S COADREAD 5 137682541 137682543 + In_Frame_Del DEL GAG GAG - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:137682541_137682543delGAG c.1072_1074delGAG c.(1072-1074)gagdel p.E361del COADREAD 5 137682560 137682560 + Missense_Mutation SNP T T C TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr5:137682560T>C c.1091T>C c.(1090-1092)gTg>gCg p.V364A COADREAD 5 137682561 137682561 + Silent SNP G G A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr5:137682561G>A c.1092G>A c.(1090-1092)gtG>gtA p.V364V COADREAD 5 137682561 137682561 + Silent SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr5:137682561G>A c.1092G>A c.(1090-1092)gtG>gtA p.V364V COADREAD 5 137682562 137682562 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:137682562C>T c.1093C>T c.(1093-1095)Cgg>Tgg p.R365W ESCA 5 137680947 137680947 + Silent SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr5:137680947C>T c.570C>T c.(568-570)agC>agT p.S190S ESCA 5 137680997 137680997 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr5:137680997C>T c.620C>T c.(619-621)gCc>gTc p.A207V ESCA 5 137681156 137681156 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr5:137681156G>T c.779G>T c.(778-780)tGg>tTg p.W260L GBM 5 137682463 137682463 + Missense_Mutation SNP A A G TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr5:137682463A>G c.994A>G c.(994-996)Atg>Gtg p.M332V GBMLGG 5 137682463 137682463 + Missense_Mutation SNP A A G TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr5:137682463A>G c.994A>G c.(994-996)Atg>Gtg p.M332V HNSC 5 137680625 137680625 + Missense_Mutation SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr5:137680625G>A c.248G>A c.(247-249)cGg>cAg p.R83Q HNSC 5 137680634 137680634 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr5:137680634C>T c.257C>T c.(256-258)tCc>tTc p.S86F HNSC 5 137680937 137680937 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 g.chr5:137680937G>A c.560G>A c.(559-561)aGa>aAa p.R187K LIHC 5 137681062 137681062 + Missense_Mutation SNP C C T TCGA-CC-5260-01A-01D-A12Z-10 TCGA-CC-5260-10B-01D-A12Z-10 g.chr5:137681062C>T c.685C>T c.(685-687)Cgc>Tgc p.R229C LIHC 5 137681062 137681062 + Missense_Mutation SNP C C T TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr5:137681062C>T c.685C>T c.(685-687)Cgc>Tgc p.R229C LIHC 5 137682560 137682560 + Missense_Mutation SNP T T C TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr5:137682560T>C c.1091T>C c.(1090-1092)gTg>gCg p.V364A LUAD 5 137680720 137680720 + Frame_Shift_Del DEL A A - TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr5:137680720delA c.343delA c.(343-345)aagfs p.K115fs LUAD 5 137680774 137680774 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr5:137680774G>T c.397G>T c.(397-399)Gtg>Ttg p.V133L LUAD 5 137681066 137681066 + Missense_Mutation SNP G G T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr5:137681066G>T c.689G>T c.(688-690)cGc>cTc p.R230L LUAD 5 137681183 137681183 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr5:137681183C>T c.806C>T c.(805-807)cCc>cTc p.P269L LUAD 5 137681289 137681289 + Missense_Mutation SNP G G T TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr5:137681289G>T c.912G>T c.(910-912)aaG>aaT p.K304N LUAD 5 137681298 137681298 + Splice_Site SNP G G T TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr5:137681298G>T c.921G>T c.(919-921)caG>caT p.Q307H LUSC 5 137680742 137680742 + Missense_Mutation SNP C C T TCGA-63-5128-01A-01D-1441-08 TCGA-63-5128-10A-01D-1441-08 g.chr5:137680742C>T c.365C>T c.(364-366)tCa>tTa p.S122L LUSC 5 137680859 137680859 + Missense_Mutation SNP A A G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr5:137680859A>G c.482A>G c.(481-483)cAg>cGg p.Q161R LUSC 5 137682482 137682482 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:137682482C>T c.1013C>T c.(1012-1014)cCc>cTc p.P338L OV 5 137681226 137681226 + Silent SNP T T G TCGA-23-1111-01A-01W-0639-09 TCGA-23-1111-10C-01W-0639-09 g.chr5:137681226T>G c.849T>G c.(847-849)acT>acG p.T283T OV 5 137682561 137682561 + Silent SNP G G T TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chr5:137682561G>T c.1092G>T c.(1090-1092)gtG>gtT p.V364V PAAD 5 137681012 137681012 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:137681012G>A c.635G>A c.(634-636)aGt>aAt p.S212N PAAD 5 137681135 137681135 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:137681135C>T c.758C>T c.(757-759)gCa>gTa p.A253V PAAD 5 137681216 137681216 + Missense_Mutation SNP C C T TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 g.chr5:137681216C>T c.839C>T c.(838-840)gCc>gTc p.A280V PRAD 5 137681219 137681219 + Missense_Mutation SNP G G A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 g.chr5:137681219G>A c.842G>A c.(841-843)cGc>cAc p.R281H READ 5 137680523 137680523 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:137680523C>T c.146C>T c.(145-147)tCc>tTc p.S49F READ 5 137681298 137681298 + Splice_Site SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:137681298G>T c.921G>T c.(919-921)caG>caT p.Q307H SKCM 5 137677062 137677062 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 g.chr5:137677062C>T c.38C>T c.(37-39)aCt>aTt p.T13I SKCM 5 137680657 137680657 + Nonsense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:137680657C>T c.280C>T c.(280-282)Caa>Taa p.Q94* SKCM 5 137680685 137680685 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr5:137680685C>T c.308C>T c.(307-309)cCa>cTa p.P103L SKCM 5 137680697 137680697 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr5:137680697C>T c.320C>T c.(319-321)cCt>cTt p.P107L SKCM 5 137680705 137680705 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr5:137680705C>T c.328C>T c.(328-330)Cct>Tct p.P110S SKCM 5 137680711 137680711 + Missense_Mutation SNP C C G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr5:137680711C>G c.334C>G c.(334-336)Cct>Gct p.P112A SKCM 5 137680718 137680718 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr5:137680718C>T c.341C>T c.(340-342)tCc>tTc p.S114F SKCM 5 137680896 137680896 + Silent SNP C C T TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr5:137680896C>T c.519C>T c.(517-519)ctC>ctT p.L173L SKCM 5 137681040 137681040 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:137681040C>T c.663C>T c.(661-663)tcC>tcT p.S221S SKCM 5 137681191 137681191 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr5:137681191C>T c.814C>T c.(814-816)Cgc>Tgc p.R272C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 137680887 137680887 single base substitution C A downstream_gene_variant BLCA-CN 5 137680887 137680887 single base substitution C A exon_variant BLCA-CN 5 137680887 137680887 single base substitution C A intron_variant BLCA-CN 5 137680887 137680887 single base substitution C A synonymous_variant L160L 480C>A BLCA-CN 5 137680887 137680887 single base substitution C A synonymous_variant L170L 510C>A BRCA-EU 5 137663321 137663321 single base substitution A T upstream_gene_variant BRCA-EU 5 137663579 137663579 single base substitution G A upstream_gene_variant BRCA-EU 5 137663979 137663979 single base substitution G A upstream_gene_variant BRCA-EU 5 137664315 137664315 single base substitution A C upstream_gene_variant BRCA-EU 5 137664366 137664366 single base substitution C T upstream_gene_variant BRCA-EU 5 137665806 137665806 single base substitution T A upstream_gene_variant BRCA-EU 5 137666439 137666439 single base substitution C T upstream_gene_variant BRCA-EU 5 137667126 137667126 single base substitution A G upstream_gene_variant BRCA-EU 5 137669515 137669515 single base substitution G A intron_variant BRCA-EU 5 137669515 137669515 single base substitution G A upstream_gene_variant BRCA-EU 5 137670058 137670058 single base substitution T C intron_variant BRCA-EU 5 137670058 137670058 single base substitution T C upstream_gene_variant BRCA-EU 5 137672582 137672582 single base substitution C G exon_variant BRCA-EU 5 137672582 137672582 single base substitution C G intron_variant BRCA-EU 5 137672582 137672582 single base substitution C G upstream_gene_variant BRCA-EU 5 137672925 137672925 single base substitution C A downstream_gene_variant BRCA-EU 5 137672925 137672925 single base substitution C A intron_variant BRCA-EU 5 137672925 137672925 single base substitution C A upstream_gene_variant BRCA-EU 5 137673394 137673394 single base substitution G T 5_prime_UTR_variant BRCA-EU 5 137673394 137673394 single base substitution G T downstream_gene_variant BRCA-EU 5 137673394 137673394 single base substitution G T exon_variant BRCA-EU 5 137673394 137673394 single base substitution G T intron_variant BRCA-EU 5 137673394 137673394 single base substitution G T upstream_gene_variant BRCA-EU 5 137673505 137673505 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 5 137673505 137673505 single base substitution C T downstream_gene_variant BRCA-EU 5 137673505 137673505 single base substitution C T exon_variant BRCA-EU 5 137673505 137673505 single base substitution C T intron_variant BRCA-EU 5 137673505 137673505 single base substitution C T upstream_gene_variant BRCA-EU 5 137676263 137676263 single base substitution A G downstream_gene_variant BRCA-EU 5 137676263 137676263 single base substitution A G intron_variant BRCA-EU 5 137676263 137676263 single base substitution A G upstream_gene_variant BRCA-EU 5 137676615 137676615 single base substitution G A downstream_gene_variant BRCA-EU 5 137676615 137676615 single base substitution G A intron_variant BRCA-EU 5 137676615 137676615 single base substitution G A upstream_gene_variant BRCA-EU 5 137678195 137678195 single base substitution T A exon_variant BRCA-EU 5 137678195 137678195 single base substitution T A intron_variant BRCA-EU 5 137678233 137678233 single base substitution A C exon_variant BRCA-EU 5 137678233 137678233 single base substitution A C intron_variant BRCA-EU 5 137680288 137680288 single base substitution G C downstream_gene_variant BRCA-EU 5 137680288 137680288 single base substitution G C intron_variant BRCA-EU 5 137681107 137681107 single base substitution T C downstream_gene_variant BRCA-EU 5 137681107 137681107 single base substitution T C exon_variant BRCA-EU 5 137681107 137681107 single base substitution T C missense_variant F244L 730T>C BRCA-EU 5 137681107 137681107 single base substitution T C synonymous_variant A53A 159T>C BRCA-EU 5 137681907 137681907 single base substitution C A downstream_gene_variant BRCA-EU 5 137681907 137681907 single base substitution C A intron_variant BRCA-EU 5 137684292 137684292 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 137684292 137684292 single base substitution C T downstream_gene_variant BRCA-EU 5 137684340 137684340 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 137684340 137684340 single base substitution C G downstream_gene_variant BRCA-EU 5 137685539 137685539 single base substitution C T downstream_gene_variant BRCA-EU 5 137689451 137689451 single base substitution T C downstream_gene_variant BRCA-FR 5 137664366 137664366 single base substitution C T upstream_gene_variant BRCA-FR 5 137681107 137681107 single base substitution T C downstream_gene_variant BRCA-FR 5 137681107 137681107 single base substitution T C exon_variant BRCA-FR 5 137681107 137681107 single base substitution T C missense_variant F244L 730T>C BRCA-FR 5 137681107 137681107 single base substitution T C synonymous_variant A53A 159T>C BRCA-US 5 137666850 137666850 single base substitution G A upstream_gene_variant BRCA-US 5 137666884 137666884 single base substitution C T upstream_gene_variant BRCA-US 5 137680989 137680989 single base substitution A C downstream_gene_variant BRCA-US 5 137680989 137680989 single base substitution A C exon_variant BRCA-US 5 137680989 137680989 single base substitution A C intron_variant BRCA-US 5 137680989 137680989 single base substitution A C synonymous_variant R204R 612A>C BRCA-US 5 137681156 137681162 deletion of <=200bp GGCGACC - downstream_gene_variant BRCA-US 5 137681156 137681162 deletion of <=200bp GGCGACC - frameshift_variant GDL70 BRCA-US 5 137681156 137681162 deletion of <=200bp GGCGACC - frameshift_variant WRP260 BRCA-US 5 137681206 137681206 single base substitution G A downstream_gene_variant BRCA-US 5 137681206 137681206 single base substitution G A missense_variant D277N 829G>A BRCA-US 5 137681206 137681206 single base substitution G A synonymous_variant V86V 258G>A BRCA-US 5 137681244 137681244 single base substitution C T downstream_gene_variant BRCA-US 5 137681244 137681244 single base substitution C T missense_variant T99M 296C>T BRCA-US 5 137681244 137681244 single base substitution C T synonymous_variant H289H 867C>T BRCA-US 5 137682473 137682473 insertion of <=200bp - C 3_prime_UTR_variant BRCA-US 5 137682473 137682473 insertion of <=200bp - C downstream_gene_variant BRCA-US 5 137682473 137682473 insertion of <=200bp - C frameshift_variant S335T? BTCA-JP 5 137665441 137665441 single base substitution G A upstream_gene_variant BTCA-JP 5 137666708 137666710 deletion of <=200bp AAG - upstream_gene_variant BTCA-JP 5 137680780 137680780 single base substitution C T downstream_gene_variant BTCA-JP 5 137680780 137680780 single base substitution C T exon_variant BTCA-JP 5 137680780 137680780 single base substitution C T intron_variant BTCA-JP 5 137680780 137680780 single base substitution C T missense_variant R125W 373C>T BTCA-JP 5 137680780 137680780 single base substitution C T missense_variant R135W 403C>T CESC-US 5 137666710 137666710 single base substitution G C upstream_gene_variant CESC-US 5 137673983 137673983 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 5 137673983 137673983 single base substitution C T downstream_gene_variant CESC-US 5 137673983 137673983 single base substitution C T exon_variant CESC-US 5 137673983 137673983 single base substitution C T intron_variant CESC-US 5 137673983 137673983 single base substitution C T upstream_gene_variant CLLE-ES 5 137673575 137673575 single base substitution C T downstream_gene_variant CLLE-ES 5 137673575 137673575 single base substitution C T intron_variant CLLE-ES 5 137673575 137673575 single base substitution C T upstream_gene_variant CLLE-ES 5 137683473 137683473 single base substitution A C 3_prime_UTR_variant CLLE-ES 5 137683473 137683473 single base substitution A C downstream_gene_variant COAD-US 5 137680536 137680536 insertion of <=200bp - C downstream_gene_variant COAD-US 5 137680536 137680536 insertion of <=200bp - C exon_variant COAD-US 5 137680536 137680536 insertion of <=200bp - C frameshift_variant L43L? COAD-US 5 137680536 137680536 insertion of <=200bp - C frameshift_variant L53L? COAD-US 5 137680536 137680536 insertion of <=200bp - C intron_variant COAD-US 5 137680836 137680836 single base substitution G T downstream_gene_variant COAD-US 5 137680836 137680836 single base substitution G T exon_variant COAD-US 5 137680836 137680836 single base substitution G T intron_variant COAD-US 5 137680836 137680836 single base substitution G T synonymous_variant G143G 429G>T COAD-US 5 137680836 137680836 single base substitution G T synonymous_variant G153G 459G>T COAD-US 5 137680935 137680935 single base substitution C T downstream_gene_variant COAD-US 5 137680935 137680935 single base substitution C T exon_variant COAD-US 5 137680935 137680935 single base substitution C T intron_variant COAD-US 5 137680935 137680935 single base substitution C T synonymous_variant H186H 558C>T COAD-US 5 137680987 137680987 single base substitution C T downstream_gene_variant COAD-US 5 137680987 137680987 single base substitution C T exon_variant COAD-US 5 137680987 137680987 single base substitution C T intron_variant COAD-US 5 137680987 137680987 single base substitution C T stop_gained R204* 610C>T COAD-US 5 137681218 137681218 single base substitution C T downstream_gene_variant COAD-US 5 137681218 137681218 single base substitution C T missense_variant R281C 841C>T COAD-US 5 137681218 137681218 single base substitution C T synonymous_variant P90P 270C>T COAD-US 5 137682562 137682562 single base substitution C T 3_prime_UTR_variant COAD-US 5 137682562 137682562 single base substitution C T downstream_gene_variant COAD-US 5 137682562 137682562 single base substitution C T missense_variant R365W 1093C>T COCA-CN 5 137665415 137665415 single base substitution C T upstream_gene_variant COCA-CN 5 137666672 137666672 single base substitution T G upstream_gene_variant COCA-CN 5 137677790 137677790 single base substitution T G downstream_gene_variant COCA-CN 5 137677790 137677790 single base substitution T G exon_variant COCA-CN 5 137677790 137677790 single base substitution T G intron_variant COCA-CN 5 137681191 137681191 single base substitution C T downstream_gene_variant COCA-CN 5 137681191 137681191 single base substitution C T missense_variant R272C 814C>T COCA-CN 5 137681191 137681191 single base substitution C T synonymous_variant A81A 243C>T COCA-CN 5 137683366 137683366 single base substitution C T 3_prime_UTR_variant COCA-CN 5 137683366 137683366 single base substitution C T downstream_gene_variant ESAD-UK 5 137663745 137663745 single base substitution G A upstream_gene_variant ESAD-UK 5 137664021 137664021 single base substitution T G upstream_gene_variant ESAD-UK 5 137665712 137665712 single base substitution G A upstream_gene_variant ESAD-UK 5 137667406 137667406 single base substitution C T upstream_gene_variant ESAD-UK 5 137667666 137667666 single base substitution T C intron_variant ESAD-UK 5 137667666 137667666 single base substitution T C upstream_gene_variant ESAD-UK 5 137668282 137668282 single base substitution C T intron_variant ESAD-UK 5 137668282 137668282 single base substitution C T upstream_gene_variant ESAD-UK 5 137668815 137668815 single base substitution G A intron_variant ESAD-UK 5 137668815 137668815 single base substitution G A upstream_gene_variant ESAD-UK 5 137669538 137669538 single base substitution A T intron_variant ESAD-UK 5 137669538 137669538 single base substitution A T upstream_gene_variant ESAD-UK 5 137671374 137671374 single base substitution G A intron_variant ESAD-UK 5 137671374 137671374 single base substitution G A upstream_gene_variant ESAD-UK 5 137671475 137671475 insertion of <=200bp - T intron_variant ESAD-UK 5 137671475 137671475 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 137674464 137674464 single base substitution G A downstream_gene_variant ESAD-UK 5 137674464 137674464 single base substitution G A intron_variant ESAD-UK 5 137674464 137674464 single base substitution G A upstream_gene_variant ESAD-UK 5 137679324 137679324 single base substitution C T downstream_gene_variant ESAD-UK 5 137679324 137679324 single base substitution C T intron_variant ESCA-CN 5 137677516 137677516 single base substitution G A downstream_gene_variant ESCA-CN 5 137677516 137677516 single base substitution G A exon_variant ESCA-CN 5 137677516 137677516 single base substitution G A intron_variant ESCA-CN 5 137677516 137677516 single base substitution G A missense_variant D23N 67G>A ESCA-CN 5 137677516 137677516 single base substitution G A missense_variant D33N 97G>A GBM-US 5 137680780 137680780 insertion of <=200bp - G downstream_gene_variant GBM-US 5 137680780 137680780 insertion of <=200bp - G exon_variant GBM-US 5 137680780 137680780 insertion of <=200bp - G frameshift_variant R125A? GBM-US 5 137680780 137680780 insertion of <=200bp - G frameshift_variant R135A? GBM-US 5 137680780 137680780 insertion of <=200bp - G intron_variant GBM-US 5 137682463 137682463 single base substitution A G 3_prime_UTR_variant GBM-US 5 137682463 137682463 single base substitution A G downstream_gene_variant GBM-US 5 137682463 137682463 single base substitution A G missense_variant M332V 994A>G KIRC-US 5 137665253 137665253 single base substitution A T upstream_gene_variant LICA-CN 5 137673671 137673671 single base substitution G T downstream_gene_variant LICA-CN 5 137673671 137673671 single base substitution G T intron_variant LICA-CN 5 137673671 137673671 single base substitution G T upstream_gene_variant LICA-CN 5 137680701 137680701 single base substitution G T downstream_gene_variant LICA-CN 5 137680701 137680701 single base substitution G T exon_variant LICA-CN 5 137680701 137680701 single base substitution G T intron_variant LICA-CN 5 137680701 137680701 single base substitution G T synonymous_variant V108V 324G>T LICA-CN 5 137680701 137680701 single base substitution G T synonymous_variant V98V 294G>T LICA-FR 5 137681168 137681168 single base substitution G A downstream_gene_variant LICA-FR 5 137681168 137681168 single base substitution G A missense_variant G264D 791G>A LICA-FR 5 137681168 137681168 single base substitution G A missense_variant V74I 220G>A LICA-FR 5 137688497 137688497 single base substitution G A downstream_gene_variant LIHC-US 5 137681062 137681062 single base substitution C T downstream_gene_variant LIHC-US 5 137681062 137681062 single base substitution C T exon_variant LIHC-US 5 137681062 137681062 single base substitution C T intron_variant LIHC-US 5 137681062 137681062 single base substitution C T missense_variant R229C 685C>T LIHC-US 5 137681160 137681160 single base substitution A G downstream_gene_variant LIHC-US 5 137681160 137681160 single base substitution A G missense_variant D71G 212A>G LIHC-US 5 137681160 137681160 single base substitution A G synonymous_variant R261R 783A>G LINC-JP 5 137664920 137664920 single base substitution T C upstream_gene_variant LINC-JP 5 137665160 137665160 single base substitution C A upstream_gene_variant LINC-JP 5 137669162 137669162 single base substitution T C exon_variant LINC-JP 5 137669162 137669162 single base substitution T C upstream_gene_variant LINC-JP 5 137680411 137680411 single base substitution G A downstream_gene_variant LINC-JP 5 137680411 137680411 single base substitution G A intron_variant LINC-JP 5 137680688 137680688 single base substitution A G downstream_gene_variant LINC-JP 5 137680688 137680688 single base substitution A G exon_variant LINC-JP 5 137680688 137680688 single base substitution A G intron_variant LINC-JP 5 137680688 137680688 single base substitution A G missense_variant E104G 311A>G LINC-JP 5 137680688 137680688 single base substitution A G missense_variant E94G 281A>G LINC-JP 5 137682455 137682455 single base substitution C T 3_prime_UTR_variant LINC-JP 5 137682455 137682455 single base substitution C T downstream_gene_variant LINC-JP 5 137682455 137682455 single base substitution C T missense_variant P329L 986C>T LINC-JP 5 137682558 137682558 single base substitution T C 3_prime_UTR_variant LINC-JP 5 137682558 137682558 single base substitution T C downstream_gene_variant LINC-JP 5 137682558 137682558 single base substitution T C synonymous_variant A363A 1089T>C LINC-JP 5 137684102 137684102 single base substitution T G 3_prime_UTR_variant LINC-JP 5 137684102 137684102 single base substitution T G downstream_gene_variant LINC-JP 5 137686530 137686530 single base substitution C T downstream_gene_variant LIRI-JP 5 137664036 137664036 single base substitution G A upstream_gene_variant LIRI-JP 5 137664913 137664913 single base substitution G A upstream_gene_variant LIRI-JP 5 137668865 137668865 single base substitution T C intron_variant LIRI-JP 5 137668865 137668865 single base substitution T C upstream_gene_variant LIRI-JP 5 137669666 137669666 single base substitution G C intron_variant LIRI-JP 5 137669666 137669666 single base substitution G C upstream_gene_variant LIRI-JP 5 137669947 137669947 single base substitution A G intron_variant LIRI-JP 5 137669947 137669947 single base substitution A G upstream_gene_variant LIRI-JP 5 137670454 137670454 single base substitution T C intron_variant LIRI-JP 5 137670454 137670454 single base substitution T C upstream_gene_variant LIRI-JP 5 137680384 137680384 single base substitution C T downstream_gene_variant LIRI-JP 5 137680384 137680384 single base substitution C T intron_variant LIRI-JP 5 137683610 137683613 deletion of <=200bp TAGG - 3_prime_UTR_variant LIRI-JP 5 137683610 137683613 deletion of <=200bp TAGG - downstream_gene_variant LIRI-JP 5 137683996 137683996 single base substitution A T 3_prime_UTR_variant LIRI-JP 5 137683996 137683996 single base substitution A T downstream_gene_variant LIRI-JP 5 137684250 137684250 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 137684250 137684250 single base substitution G A downstream_gene_variant LIRI-JP 5 137684514 137684514 single base substitution T A 3_prime_UTR_variant LIRI-JP 5 137684514 137684514 single base substitution T A downstream_gene_variant LIRI-JP 5 137684553 137684553 single base substitution C T 3_prime_UTR_variant LIRI-JP 5 137684553 137684553 single base substitution C T downstream_gene_variant LIRI-JP 5 137689022 137689022 single base substitution G A downstream_gene_variant LUSC-KR 5 137662634 137662634 single base substitution T C upstream_gene_variant LUSC-KR 5 137679458 137679458 single base substitution C T downstream_gene_variant LUSC-KR 5 137679458 137679458 single base substitution C T intron_variant LUSC-KR 5 137680252 137680252 single base substitution C T downstream_gene_variant LUSC-KR 5 137680252 137680252 single base substitution C T intron_variant LUSC-KR 5 137680878 137680878 single base substitution C G downstream_gene_variant LUSC-KR 5 137680878 137680878 single base substitution C G exon_variant LUSC-KR 5 137680878 137680878 single base substitution C G intron_variant LUSC-KR 5 137680878 137680878 single base substitution C G synonymous_variant V157V 471C>G LUSC-KR 5 137680878 137680878 single base substitution C G synonymous_variant V167V 501C>G LUSC-KR 5 137688676 137688676 single base substitution G T downstream_gene_variant LUSC-US 5 137680742 137680742 single base substitution C T downstream_gene_variant LUSC-US 5 137680742 137680742 single base substitution C T exon_variant LUSC-US 5 137680742 137680742 single base substitution C T intron_variant LUSC-US 5 137680742 137680742 single base substitution C T missense_variant S112L 335C>T LUSC-US 5 137680742 137680742 single base substitution C T missense_variant S122L 365C>T LUSC-US 5 137680859 137680859 single base substitution A G downstream_gene_variant LUSC-US 5 137680859 137680859 single base substitution A G exon_variant LUSC-US 5 137680859 137680859 single base substitution A G intron_variant LUSC-US 5 137680859 137680859 single base substitution A G missense_variant Q151R 452A>G LUSC-US 5 137680859 137680859 single base substitution A G missense_variant Q161R 482A>G LUSC-US 5 137682482 137682482 single base substitution C T 3_prime_UTR_variant LUSC-US 5 137682482 137682482 single base substitution C T downstream_gene_variant LUSC-US 5 137682482 137682482 single base substitution C T missense_variant P338L 1013C>T MALY-DE 5 137669629 137669629 deletion of <=200bp T - intron_variant MALY-DE 5 137669629 137669629 deletion of <=200bp T - upstream_gene_variant MALY-DE 5 137678033 137678033 single base substitution T G exon_variant MALY-DE 5 137678033 137678033 single base substitution T G intron_variant MELA-AU 5 137662721 137662721 single base substitution G A upstream_gene_variant MELA-AU 5 137662852 137662852 single base substitution G A upstream_gene_variant MELA-AU 5 137663078 137663078 single base substitution G A upstream_gene_variant MELA-AU 5 137663134 137663134 single base substitution A G upstream_gene_variant MELA-AU 5 137663180 137663180 single base substitution C T upstream_gene_variant MELA-AU 5 137663253 137663253 single base substitution G A upstream_gene_variant MELA-AU 5 137663256 137663256 single base substitution G A upstream_gene_variant MELA-AU 5 137664107 137664107 single base substitution G A upstream_gene_variant MELA-AU 5 137664521 137664521 single base substitution G A upstream_gene_variant MELA-AU 5 137664718 137664718 single base substitution C T upstream_gene_variant MELA-AU 5 137664756 137664756 single base substitution A G upstream_gene_variant MELA-AU 5 137665650 137665650 single base substitution C T upstream_gene_variant MELA-AU 5 137665705 137665705 single base substitution C T upstream_gene_variant MELA-AU 5 137665798 137665798 single base substitution G A upstream_gene_variant MELA-AU 5 137667386 137667386 single base substitution G A upstream_gene_variant MELA-AU 5 137667529 137667529 single base substitution C T upstream_gene_variant MELA-AU 5 137669070 137669070 single base substitution G A intron_variant MELA-AU 5 137669070 137669070 single base substitution G A upstream_gene_variant MELA-AU 5 137669498 137669498 single base substitution G A intron_variant MELA-AU 5 137669498 137669498 single base substitution G A upstream_gene_variant MELA-AU 5 137669874 137669874 single base substitution C T intron_variant MELA-AU 5 137669874 137669874 single base substitution C T upstream_gene_variant MELA-AU 5 137670183 137670183 single base substitution G A intron_variant MELA-AU 5 137670183 137670183 single base substitution G A upstream_gene_variant MELA-AU 5 137670293 137670293 single base substitution G A intron_variant MELA-AU 5 137670293 137670293 single base substitution G A upstream_gene_variant MELA-AU 5 137670350 137670350 single base substitution C T intron_variant MELA-AU 5 137670350 137670350 single base substitution C T upstream_gene_variant MELA-AU 5 137670734 137670734 single base substitution C T intron_variant MELA-AU 5 137670734 137670734 single base substitution C T upstream_gene_variant MELA-AU 5 137671022 137671022 single base substitution G A intron_variant MELA-AU 5 137671022 137671022 single base substitution G A upstream_gene_variant MELA-AU 5 137671920 137671920 single base substitution C G intron_variant MELA-AU 5 137671920 137671920 single base substitution C G upstream_gene_variant MELA-AU 5 137672180 137672180 single base substitution C T intron_variant MELA-AU 5 137672180 137672180 single base substitution C T upstream_gene_variant MELA-AU 5 137672286 137672286 single base substitution G A intron_variant MELA-AU 5 137672286 137672286 single base substitution G A upstream_gene_variant MELA-AU 5 137673116 137673116 single base substitution T A downstream_gene_variant MELA-AU 5 137673116 137673116 single base substitution T A intron_variant MELA-AU 5 137673116 137673116 single base substitution T A upstream_gene_variant MELA-AU 5 137673151 137673151 single base substitution C T downstream_gene_variant MELA-AU 5 137673151 137673151 single base substitution C T intron_variant MELA-AU 5 137673151 137673151 single base substitution C T upstream_gene_variant MELA-AU 5 137673541 137673541 single base substitution G A downstream_gene_variant MELA-AU 5 137673541 137673541 single base substitution G A intron_variant MELA-AU 5 137673541 137673541 single base substitution G A splice_region_variant MELA-AU 5 137673541 137673541 single base substitution G A upstream_gene_variant MELA-AU 5 137673578 137673578 single base substitution G A downstream_gene_variant MELA-AU 5 137673578 137673578 single base substitution G A intron_variant MELA-AU 5 137673578 137673578 single base substitution G A upstream_gene_variant MELA-AU 5 137673583 137673583 single base substitution G A downstream_gene_variant MELA-AU 5 137673583 137673583 single base substitution G A intron_variant MELA-AU 5 137673583 137673583 single base substitution G A upstream_gene_variant MELA-AU 5 137673726 137673726 single base substitution G A 5_prime_UTR_variant MELA-AU 5 137673726 137673726 single base substitution G A downstream_gene_variant MELA-AU 5 137673726 137673726 single base substitution G A exon_variant MELA-AU 5 137673726 137673726 single base substitution G A intron_variant MELA-AU 5 137673726 137673726 single base substitution G A upstream_gene_variant MELA-AU 5 137673839 137673839 single base substitution C T 5_prime_UTR_variant MELA-AU 5 137673839 137673839 single base substitution C T downstream_gene_variant MELA-AU 5 137673839 137673839 single base substitution C T exon_variant MELA-AU 5 137673839 137673839 single base substitution C T intron_variant MELA-AU 5 137673839 137673839 single base substitution C T upstream_gene_variant MELA-AU 5 137673898 137673898 single base substitution G A 5_prime_UTR_variant MELA-AU 5 137673898 137673898 single base substitution G A downstream_gene_variant MELA-AU 5 137673898 137673898 single base substitution G A exon_variant MELA-AU 5 137673898 137673898 single base substitution G A intron_variant MELA-AU 5 137673898 137673898 single base substitution G A upstream_gene_variant MELA-AU 5 137673912 137673912 single base substitution C T 5_prime_UTR_variant MELA-AU 5 137673912 137673912 single base substitution C T downstream_gene_variant MELA-AU 5 137673912 137673912 single base substitution C T exon_variant MELA-AU 5 137673912 137673912 single base substitution C T intron_variant MELA-AU 5 137673912 137673912 single base substitution C T upstream_gene_variant MELA-AU 5 137673947 137673947 single base substitution G A 5_prime_UTR_variant MELA-AU 5 137673947 137673947 single base substitution G A downstream_gene_variant MELA-AU 5 137673947 137673947 single base substitution G A exon_variant MELA-AU 5 137673947 137673947 single base substitution G A intron_variant MELA-AU 5 137673947 137673947 single base substitution G A upstream_gene_variant MELA-AU 5 137674189 137674189 single base substitution C T downstream_gene_variant MELA-AU 5 137674189 137674189 single base substitution C T intron_variant MELA-AU 5 137674189 137674189 single base substitution C T upstream_gene_variant MELA-AU 5 137675620 137675620 single base substitution C T downstream_gene_variant MELA-AU 5 137675620 137675620 single base substitution C T intron_variant MELA-AU 5 137675620 137675620 single base substitution C T upstream_gene_variant MELA-AU 5 137675896 137675896 single base substitution G A downstream_gene_variant MELA-AU 5 137675896 137675896 single base substitution G A intron_variant MELA-AU 5 137675896 137675896 single base substitution G A upstream_gene_variant MELA-AU 5 137676771 137676771 single base substitution A C downstream_gene_variant MELA-AU 5 137676771 137676771 single base substitution A C intron_variant MELA-AU 5 137676771 137676771 single base substitution A C upstream_gene_variant MELA-AU 5 137676858 137676858 single base substitution C T downstream_gene_variant MELA-AU 5 137676858 137676858 single base substitution C T intron_variant MELA-AU 5 137676858 137676858 single base substitution C T upstream_gene_variant MELA-AU 5 137677379 137677379 single base substitution C T downstream_gene_variant MELA-AU 5 137677379 137677379 single base substitution C T exon_variant MELA-AU 5 137677379 137677379 single base substitution C T intron_variant MELA-AU 5 137677979 137677979 single base substitution C T exon_variant MELA-AU 5 137677979 137677979 single base substitution C T intron_variant MELA-AU 5 137678712 137678712 single base substitution C T exon_variant MELA-AU 5 137678712 137678712 single base substitution C T intron_variant MELA-AU 5 137678963 137678963 single base substitution C T downstream_gene_variant MELA-AU 5 137678963 137678963 single base substitution C T intron_variant MELA-AU 5 137679091 137679091 single base substitution C T downstream_gene_variant MELA-AU 5 137679091 137679091 single base substitution C T intron_variant MELA-AU 5 137679332 137679332 single base substitution C T downstream_gene_variant MELA-AU 5 137679332 137679332 single base substitution C T intron_variant MELA-AU 5 137679674 137679674 single base substitution C T downstream_gene_variant MELA-AU 5 137679674 137679674 single base substitution C T intron_variant MELA-AU 5 137679731 137679731 single base substitution C T downstream_gene_variant MELA-AU 5 137679731 137679731 single base substitution C T intron_variant MELA-AU 5 137679943 137679943 single base substitution C T downstream_gene_variant MELA-AU 5 137679943 137679943 single base substitution C T intron_variant MELA-AU 5 137680170 137680170 single base substitution C T downstream_gene_variant MELA-AU 5 137680170 137680170 single base substitution C T intron_variant MELA-AU 5 137680196 137680196 single base substitution G A downstream_gene_variant MELA-AU 5 137680196 137680196 single base substitution G A intron_variant MELA-AU 5 137680523 137680524 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 5 137680523 137680524 multiple base substitution (>=2bp and <=200bp) CC TA exon_variant MELA-AU 5 137680523 137680524 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 5 137680523 137680524 multiple base substitution (>=2bp and <=200bp) CC TA missense_variant S39L 116CC>TA MELA-AU 5 137680523 137680524 multiple base substitution (>=2bp and <=200bp) CC TA missense_variant S49L 146CC>TA MELA-AU 5 137680705 137680705 single base substitution C T downstream_gene_variant MELA-AU 5 137680705 137680705 single base substitution C T exon_variant MELA-AU 5 137680705 137680705 single base substitution C T intron_variant MELA-AU 5 137680705 137680705 single base substitution C T missense_variant P100S 298C>T MELA-AU 5 137680705 137680705 single base substitution C T missense_variant P110S 328C>T MELA-AU 5 137681350 137681350 single base substitution G A downstream_gene_variant MELA-AU 5 137681350 137681350 single base substitution G A intron_variant MELA-AU 5 137681554 137681554 single base substitution C T downstream_gene_variant MELA-AU 5 137681554 137681554 single base substitution C T intron_variant MELA-AU 5 137681644 137681644 single base substitution C T downstream_gene_variant MELA-AU 5 137681644 137681644 single base substitution C T intron_variant MELA-AU 5 137681981 137681981 single base substitution C T downstream_gene_variant MELA-AU 5 137681981 137681981 single base substitution C T intron_variant MELA-AU 5 137682306 137682306 single base substitution C T downstream_gene_variant MELA-AU 5 137682306 137682306 single base substitution C T intron_variant MELA-AU 5 137682339 137682339 single base substitution C T downstream_gene_variant MELA-AU 5 137682339 137682339 single base substitution C T intron_variant MELA-AU 5 137682483 137682483 single base substitution C T 3_prime_UTR_variant MELA-AU 5 137682483 137682483 single base substitution C T downstream_gene_variant MELA-AU 5 137682483 137682483 single base substitution C T synonymous_variant P338P 1014C>T MELA-AU 5 137682494 137682494 single base substitution C T 3_prime_UTR_variant MELA-AU 5 137682494 137682494 single base substitution C T downstream_gene_variant MELA-AU 5 137682494 137682494 single base substitution C T missense_variant S342F 1025C>T MELA-AU 5 137682879 137682880 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 5 137682879 137682880 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 137683546 137683546 single base substitution C A 3_prime_UTR_variant MELA-AU 5 137683546 137683546 single base substitution C A downstream_gene_variant MELA-AU 5 137684660 137684660 single base substitution C T 3_prime_UTR_variant MELA-AU 5 137684660 137684660 single base substitution C T downstream_gene_variant MELA-AU 5 137686747 137686747 single base substitution C T downstream_gene_variant MELA-AU 5 137686854 137686854 single base substitution C T downstream_gene_variant MELA-AU 5 137687000 137687000 single base substitution C T downstream_gene_variant MELA-AU 5 137689350 137689350 single base substitution G A downstream_gene_variant ORCA-IN 5 137671399 137671399 single base substitution G C intron_variant ORCA-IN 5 137671399 137671399 single base substitution G C upstream_gene_variant ORCA-IN 5 137680181 137680181 single base substitution G C downstream_gene_variant ORCA-IN 5 137680181 137680181 single base substitution G C intron_variant ORCA-IN 5 137680589 137680589 single base substitution C A downstream_gene_variant ORCA-IN 5 137680589 137680589 single base substitution C A exon_variant ORCA-IN 5 137680589 137680589 single base substitution C A intron_variant ORCA-IN 5 137680589 137680589 single base substitution C A missense_variant P61H 182C>A ORCA-IN 5 137680589 137680589 single base substitution C A missense_variant P71H 212C>A OV-AU 5 137663513 137663513 single base substitution C A upstream_gene_variant OV-AU 5 137672293 137672293 single base substitution T C intron_variant OV-AU 5 137672293 137672293 single base substitution T C upstream_gene_variant OV-AU 5 137686060 137686060 single base substitution T A downstream_gene_variant OV-US 5 137682561 137682561 single base substitution G T 3_prime_UTR_variant OV-US 5 137682561 137682561 single base substitution G T downstream_gene_variant OV-US 5 137682561 137682561 single base substitution G T synonymous_variant V364V 1092G>T PACA-AU 5 137664291 137664291 single base substitution C T upstream_gene_variant PACA-AU 5 137666176 137666176 single base substitution G T upstream_gene_variant PACA-AU 5 137668411 137668411 single base substitution C T intron_variant PACA-AU 5 137668411 137668411 single base substitution C T upstream_gene_variant PACA-AU 5 137671696 137671696 single base substitution C A intron_variant PACA-AU 5 137671696 137671696 single base substitution C A upstream_gene_variant PACA-AU 5 137673734 137673734 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 5 137673734 137673734 single base substitution C T downstream_gene_variant PACA-AU 5 137673734 137673734 single base substitution C T exon_variant PACA-AU 5 137673734 137673734 single base substitution C T intron_variant PACA-AU 5 137673734 137673734 single base substitution C T upstream_gene_variant PACA-AU 5 137678720 137678720 single base substitution A C downstream_gene_variant PACA-AU 5 137678720 137678720 single base substitution A C intron_variant PACA-CA 5 137664247 137664247 single base substitution A G upstream_gene_variant PACA-CA 5 137665898 137665898 single base substitution A T upstream_gene_variant PACA-CA 5 137670251 137670251 single base substitution G A intron_variant PACA-CA 5 137670251 137670251 single base substitution G A upstream_gene_variant PACA-CA 5 137673943 137673943 single base substitution A C 5_prime_UTR_variant PACA-CA 5 137673943 137673943 single base substitution A C downstream_gene_variant PACA-CA 5 137673943 137673943 single base substitution A C exon_variant PACA-CA 5 137673943 137673943 single base substitution A C intron_variant PACA-CA 5 137673943 137673943 single base substitution A C upstream_gene_variant PACA-CA 5 137674171 137674180 deletion of <=200bp TCCCAGACCC - downstream_gene_variant PACA-CA 5 137674171 137674180 deletion of <=200bp TCCCAGACCC - intron_variant PACA-CA 5 137674171 137674180 deletion of <=200bp TCCCAGACCC - upstream_gene_variant PACA-CA 5 137676897 137676897 single base substitution G A 5_prime_UTR_variant PACA-CA 5 137676897 137676897 single base substitution G A downstream_gene_variant PACA-CA 5 137676897 137676897 single base substitution G A exon_variant PACA-CA 5 137676897 137676897 single base substitution G A intron_variant PACA-CA 5 137680463 137680463 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 137680463 137680463 insertion of <=200bp - A intron_variant PACA-CA 5 137684378 137684378 single base substitution C T 3_prime_UTR_variant PACA-CA 5 137684378 137684378 single base substitution C T downstream_gene_variant PACA-CA 5 137688878 137688878 single base substitution C T downstream_gene_variant PACA-CA 5 137690226 137690226 single base substitution C T downstream_gene_variant PAEN-AU 5 137688442 137688442 single base substitution T G downstream_gene_variant PBCA-DE 5 137672422 137672422 single base substitution A G intron_variant PBCA-DE 5 137672422 137672422 single base substitution A G upstream_gene_variant PRAD-UK 5 137672621 137672621 single base substitution G A exon_variant PRAD-UK 5 137672621 137672621 single base substitution G A intron_variant PRAD-UK 5 137672621 137672621 single base substitution G A upstream_gene_variant PRAD-UK 5 137673825 137673825 single base substitution C T 5_prime_UTR_variant PRAD-UK 5 137673825 137673825 single base substitution C T downstream_gene_variant PRAD-UK 5 137673825 137673825 single base substitution C T exon_variant PRAD-UK 5 137673825 137673825 single base substitution C T intron_variant PRAD-UK 5 137673825 137673825 single base substitution C T upstream_gene_variant PRAD-UK 5 137688210 137688210 single base substitution C T downstream_gene_variant PRAD-US 5 137680780 137680780 insertion of <=200bp - G downstream_gene_variant PRAD-US 5 137680780 137680780 insertion of <=200bp - G exon_variant PRAD-US 5 137680780 137680780 insertion of <=200bp - G frameshift_variant R125A? PRAD-US 5 137680780 137680780 insertion of <=200bp - G frameshift_variant R135A? PRAD-US 5 137680780 137680780 insertion of <=200bp - G intron_variant PRAD-US 5 137681219 137681219 single base substitution G A downstream_gene_variant PRAD-US 5 137681219 137681219 single base substitution G A missense_variant A91T 271G>A PRAD-US 5 137681219 137681219 single base substitution G A missense_variant R281H 842G>A RECA-EU 5 137664405 137664405 single base substitution A T upstream_gene_variant RECA-EU 5 137675457 137675457 single base substitution A G downstream_gene_variant RECA-EU 5 137675457 137675457 single base substitution A G intron_variant RECA-EU 5 137675457 137675457 single base substitution A G upstream_gene_variant RECA-EU 5 137681063 137681063 single base substitution G A downstream_gene_variant RECA-EU 5 137681063 137681063 single base substitution G A exon_variant RECA-EU 5 137681063 137681063 single base substitution G A intron_variant RECA-EU 5 137681063 137681063 single base substitution G A missense_variant R229H 686G>A SKCA-BR 5 137662942 137662942 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 5 137663776 137663776 single base substitution G A upstream_gene_variant SKCA-BR 5 137665462 137665462 single base substitution C G upstream_gene_variant SKCA-BR 5 137668350 137668350 single base substitution T G intron_variant SKCA-BR 5 137668350 137668350 single base substitution T G upstream_gene_variant SKCA-BR 5 137669249 137669249 single base substitution G A intron_variant SKCA-BR 5 137669249 137669249 single base substitution G A upstream_gene_variant SKCA-BR 5 137669874 137669874 single base substitution C T intron_variant SKCA-BR 5 137669874 137669874 single base substitution C T upstream_gene_variant SKCA-BR 5 137672144 137672144 single base substitution G A intron_variant SKCA-BR 5 137672144 137672144 single base substitution G A upstream_gene_variant SKCA-BR 5 137673578 137673578 single base substitution G A downstream_gene_variant SKCA-BR 5 137673578 137673578 single base substitution G A intron_variant SKCA-BR 5 137673578 137673578 single base substitution G A upstream_gene_variant SKCA-BR 5 137676814 137676814 single base substitution C T downstream_gene_variant SKCA-BR 5 137676814 137676814 single base substitution C T intron_variant SKCA-BR 5 137676814 137676814 single base substitution C T upstream_gene_variant SKCA-BR 5 137676815 137676815 single base substitution C T downstream_gene_variant SKCA-BR 5 137676815 137676815 single base substitution C T intron_variant SKCA-BR 5 137676815 137676815 single base substitution C T upstream_gene_variant SKCA-BR 5 137682716 137682716 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 137682716 137682716 single base substitution C T downstream_gene_variant SKCA-BR 5 137689320 137689320 single base substitution T G downstream_gene_variant SKCM-US 5 137665301 137665301 single base substitution A C upstream_gene_variant SKCM-US 5 137665307 137665307 single base substitution G A upstream_gene_variant SKCM-US 5 137665315 137665315 single base substitution G A upstream_gene_variant SKCM-US 5 137666877 137666877 single base substitution G A upstream_gene_variant SKCM-US 5 137677062 137677062 single base substitution C T downstream_gene_variant SKCM-US 5 137677062 137677062 single base substitution C T exon_variant SKCM-US 5 137677062 137677062 single base substitution C T intron_variant SKCM-US 5 137677062 137677062 single base substitution C T missense_variant T13I 38C>T SKCM-US 5 137680657 137680657 single base substitution C T downstream_gene_variant SKCM-US 5 137680657 137680657 single base substitution C T exon_variant SKCM-US 5 137680657 137680657 single base substitution C T intron_variant SKCM-US 5 137680657 137680657 single base substitution C T stop_gained Q84* 250C>T SKCM-US 5 137680657 137680657 single base substitution C T stop_gained Q94* 280C>T SKCM-US 5 137680685 137680685 single base substitution C T downstream_gene_variant SKCM-US 5 137680685 137680685 single base substitution C T exon_variant SKCM-US 5 137680685 137680685 single base substitution C T intron_variant SKCM-US 5 137680685 137680685 single base substitution C T missense_variant P103L 308C>T SKCM-US 5 137680685 137680685 single base substitution C T missense_variant P93L 278C>T SKCM-US 5 137680697 137680697 single base substitution C T downstream_gene_variant SKCM-US 5 137680697 137680697 single base substitution C T exon_variant SKCM-US 5 137680697 137680697 single base substitution C T intron_variant SKCM-US 5 137680697 137680697 single base substitution C T missense_variant P107L 320C>T SKCM-US 5 137680697 137680697 single base substitution C T missense_variant P97L 290C>T SKCM-US 5 137680705 137680705 single base substitution C T downstream_gene_variant SKCM-US 5 137680705 137680705 single base substitution C T exon_variant SKCM-US 5 137680705 137680705 single base substitution C T intron_variant SKCM-US 5 137680705 137680705 single base substitution C T missense_variant P100S 298C>T SKCM-US 5 137680705 137680705 single base substitution C T missense_variant P110S 328C>T SKCM-US 5 137680711 137680711 single base substitution C G downstream_gene_variant SKCM-US 5 137680711 137680711 single base substitution C G exon_variant SKCM-US 5 137680711 137680711 single base substitution C G intron_variant SKCM-US 5 137680711 137680711 single base substitution C G missense_variant P102A 304C>G SKCM-US 5 137680711 137680711 single base substitution C G missense_variant P112A 334C>G SKCM-US 5 137680718 137680718 single base substitution C T downstream_gene_variant SKCM-US 5 137680718 137680718 single base substitution C T exon_variant SKCM-US 5 137680718 137680718 single base substitution C T intron_variant SKCM-US 5 137680718 137680718 single base substitution C T missense_variant S104F 311C>T SKCM-US 5 137680718 137680718 single base substitution C T missense_variant S114F 341C>T SKCM-US 5 137680896 137680896 single base substitution C T downstream_gene_variant SKCM-US 5 137680896 137680896 single base substitution C T exon_variant SKCM-US 5 137680896 137680896 single base substitution C T intron_variant SKCM-US 5 137680896 137680896 single base substitution C T synonymous_variant L163L 489C>T SKCM-US 5 137680896 137680896 single base substitution C T synonymous_variant L173L 519C>T SKCM-US 5 137680962 137680967 deletion of <=200bp CCTGGC - downstream_gene_variant SKCM-US 5 137680962 137680967 deletion of <=200bp CCTGGC - exon_variant SKCM-US 5 137680962 137680967 deletion of <=200bp CCTGGC - inframe_deletion SLA195S SKCM-US 5 137680962 137680967 deletion of <=200bp CCTGGC - intron_variant SKCM-US 5 137681040 137681040 single base substitution C T downstream_gene_variant SKCM-US 5 137681040 137681040 single base substitution C T exon_variant SKCM-US 5 137681040 137681040 single base substitution C T intron_variant SKCM-US 5 137681040 137681040 single base substitution C T synonymous_variant S221S 663C>T SKCM-US 5 137681138 137681138 single base substitution C T downstream_gene_variant SKCM-US 5 137681138 137681138 single base substitution C T exon_variant SKCM-US 5 137681138 137681138 single base substitution C T missense_variant P64S 190C>T SKCM-US 5 137681138 137681138 single base substitution C T missense_variant S254F 761C>T SKCM-US 5 137681191 137681191 single base substitution C T downstream_gene_variant SKCM-US 5 137681191 137681191 single base substitution C T missense_variant R272C 814C>T SKCM-US 5 137681191 137681191 single base substitution C T synonymous_variant A81A 243C>T STAD-US 5 137665314 137665314 single base substitution C T upstream_gene_variant STAD-US 5 137677044 137677044 single base substitution A T downstream_gene_variant STAD-US 5 137677044 137677044 single base substitution A T exon_variant STAD-US 5 137677044 137677044 single base substitution A T intron_variant STAD-US 5 137677044 137677044 single base substitution A T missense_variant E7V 20A>T STAD-US 5 137677511 137677511 single base substitution A G downstream_gene_variant STAD-US 5 137677511 137677511 single base substitution A G exon_variant STAD-US 5 137677511 137677511 single base substitution A G intron_variant STAD-US 5 137677511 137677511 single base substitution A G missense_variant H21R 62A>G STAD-US 5 137677511 137677511 single base substitution A G missense_variant H31R 92A>G STAD-US 5 137680703 137680703 single base substitution C T downstream_gene_variant STAD-US 5 137680703 137680703 single base substitution C T exon_variant STAD-US 5 137680703 137680703 single base substitution C T intron_variant STAD-US 5 137680703 137680703 single base substitution C T missense_variant P109L 326C>T STAD-US 5 137680703 137680703 single base substitution C T missense_variant P99L 296C>T STAD-US 5 137680803 137680803 single base substitution G C downstream_gene_variant STAD-US 5 137680803 137680803 single base substitution G C exon_variant STAD-US 5 137680803 137680803 single base substitution G C intron_variant STAD-US 5 137680803 137680803 single base substitution G C missense_variant W132C 396G>C STAD-US 5 137680803 137680803 single base substitution G C missense_variant W142C 426G>C STAD-US 5 137681158 137681158 single base substitution C T downstream_gene_variant STAD-US 5 137681158 137681158 single base substitution C T stop_gained R261* 781C>T STAD-US 5 137681158 137681158 single base substitution C T synonymous_variant G70G 210C>T STAD-US 5 137682483 137682483 single base substitution C A 3_prime_UTR_variant STAD-US 5 137682483 137682483 single base substitution C A downstream_gene_variant STAD-US 5 137682483 137682483 single base substitution C A synonymous_variant P338P 1014C>A THCA-SA 5 137683898 137683898 single base substitution G A 3_prime_UTR_variant THCA-SA 5 137683898 137683898 single base substitution G A downstream_gene_variant UCEC-US 5 137666772 137666772 single base substitution A G upstream_gene_variant UCEC-US 5 137681105 137681105 single base substitution G A downstream_gene_variant UCEC-US 5 137681105 137681105 single base substitution G A exon_variant UCEC-US 5 137681105 137681105 single base substitution G A missense_variant A53T 157G>A UCEC-US 5 137681105 137681105 single base substitution G A missense_variant R243H 728G>A UCEC-US 5 137682562 137682562 single base substitution C T 3_prime_UTR_variant UCEC-US 5 137682562 137682562 single base substitution C T downstream_gene_variant UCEC-US 5 137682562 137682562 single base substitution C T missense_variant R365W 1093C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-19-2631-01 COSM2156395 c.994A>G p.M332V Substitution - Missense 5:138346774-138346774 + TCGA-BS-A0UV-01 COSM1061302 c.728G>A p.R243H Substitution - Missense 5:138345416-138345416 + LUAD-B00859 COSM332446 c.386G>A p.R129H Substitution - Missense 5:138345074-138345074 + TCGA-EE-A3AE-06 COSM3608959 c.814C>T p.R272C Substitution - Missense 5:138345502-138345502 + TCGA-B6-A0I6-01 COSM448652 c.867C>T p.H289H Substitution - coding silent 5:138345555-138345555 + CHEWS009 COSM4585426 c.552A>C p.P184P Substitution - coding silent 5:138345240-138345240 + HN_62505 COSM123019 c.807C>T p.P269P Substitution - coding silent 5:138345495-138345495 + TCGA-EE-A17X-06 COSM3608954 c.320C>T p.P107L Substitution - Missense 5:138345008-138345008 + TCGA-CK-5916-01 COSM1433356 c.610C>T p.R204* Substitution - Nonsense 5:138345298-138345298 + TCGA-37-4135-01 COSM735557 c.482A>G p.Q161R Substitution - Missense 5:138345170-138345170 + NB2186 COSM5703052 c.439C>A p.H147N Substitution - Missense 5:138345127-138345127 + CSCC-4-T COSM4548828 c.457G>A p.G153R Substitution - Missense 5:138345145-138345145 + TCGA-DD-A113-01 COSM4925257 c.783A>G p.R261R Substitution - coding silent 5:138345471-138345471 + ESCC_BICR_070T COSM5445063 c.97G>A p.D33N Substitution - Missense 5:138341827-138341827 + HCC122 COSM1619527 c.986C>T p.P329L Substitution - Missense 5:138346766-138346766 + TCGA-EB-A431-01 COSM3608958 c.761C>T p.S254F Substitution - Missense 5:138345449-138345449 + LUAD-YINHD COSM351126 c.91C>T p.H31Y Substitution - Missense 5:138341821-138341821 + C008 COSM5522640 c.478C>T p.H160Y Substitution - Missense 5:138345166-138345166 + TCGA-AD-6889-01 COSM1433354 c.459G>T p.G153G Substitution - coding silent 5:138345147-138345147 + PT34 COSM5910451 c.335C>T p.P112L Substitution - Missense 5:138345023-138345023 + 24T COSM3715089 c.212C>A p.P71H Substitution - Missense 5:138344900-138344900 + TCGA-EE-A29G-06 COSM3608956 c.334C>G p.P112A Substitution - Missense 5:138345022-138345022 + TCGA-13-1498-01 COSM81170 c.1092G>T p.V364V Substitution - coding silent 5:138346872-138346872 + Pat_70_A COSM5867370 c.307C>T p.P103S Substitution - Missense 5:138344995-138344995 + TCGA-CC-5260-01 COSM4937461 c.685C>T p.R229C Substitution - Missense 5:138345373-138345373 + TCGA-ER-A3PL-06 COSM3608953 c.308C>T p.P103L Substitution - Missense 5:138344996-138344996 + pfg057T COSM4747919 c.1005delC p.P337fs*17 Deletion - Frameshift 5:138346785-138346785 + BN28T COSM1619526 c.311A>G p.E104G Substitution - Missense 5:138344999-138344999 + HCC122T COSM1619527 c.986C>T p.P329L Substitution - Missense 5:138346766-138346766 + B47 COSM1753995 c.510C>A p.L170L Substitution - coding silent 5:138345198-138345198 + TCGA-FS-A1ZP-06 COSM3608957 c.519C>T p.L173L Substitution - coding silent 5:138345207-138345207 + TCGA-D9-A6EC-06 COSM4400449 c.280C>T p.Q94* Substitution - Nonsense 5:138344968-138344968 + TCGA-24-0975-01 COSM116196 c.1054G>A p.V352M Substitution - Missense 5:138346834-138346834 + TCGA-D9-A6EC-06 COSM4401424 c.663C>T p.S221S Substitution - coding silent 5:138345351-138345351 + TCGA-D1-A0ZO-01 COSM1061303 c.1093C>T p.R365W Substitution - Missense 5:138346873-138346873 + BN23T COSM1619528 c.1089T>C p.A363A Substitution - coding silent 5:138346869-138346869 + B47-Tumor COSM1753995 c.510C>A p.L170L Substitution - coding silent 5:138345198-138345198 + T2269 COSM4683075 c.298C>T p.P100S Substitution - Missense 5:138344986-138344986 + TCGA-ER-A19Q-06 COSM3608952 c.38C>T p.T13I Substitution - Missense 5:138341373-138341373 + 16 COSM3735689 c.736C>T p.P246S Substitution - Missense 5:138345424-138345424 + TCGA-BR-6452-01 COSM3850419 c.92A>G p.H31R Substitution - Missense 5:138341822-138341822 + TCGA-HU-A4GQ-01 COSM3850422 c.781C>T p.R261* Substitution - Nonsense 5:138345469-138345469 + TCGA-A6-5665-01 COSM1061303 c.1093C>T p.R365W Substitution - Missense 5:138346873-138346873 + pfg129T COSM4747919 c.1005delC p.P337fs*17 Deletion - Frameshift 5:138346785-138346785 + PT35 COSM5912225 c.695C>T p.S232F Substitution - Missense 5:138345383-138345383 + C0073T COSM4155467 c.686G>A p.R229H Substitution - Missense 5:138345374-138345374 + Pat_24_B COSM5867373 c.1090G>A p.V364M Substitution - Missense 5:138346870-138346870 + TCGA-AG-A002-01 COSM260801 c.146C>T p.S49F Substitution - Missense 5:138344834-138344834 + OSCC-GB_00240111 COSM3715089 c.212C>A p.P71H Substitution - Missense 5:138344900-138344900 + TCGA-A2-A0CZ-01 COSM5834947 c.1004_1005insC p.P338fs*18 Insertion - Frameshift 5:138346784-138346785 + TCGA-GF-A6C9-06 COSM4899790 c.341C>T p.S114F Substitution - Missense 5:138345029-138345029 + HCC111T COSM5818527 c.324G>T p.V108V Substitution - coding silent 5:138345012-138345012 + TCGA-18-3409-01 COSM735555 c.1013C>T p.P338L Substitution - Missense 5:138346793-138346793 + CHC892T COSM4797162 c.791G>A p.G264D Substitution - Missense 5:138345479-138345479 + TCGA-A2-A0T5-01 COSM3826841 c.612A>C p.R204R Substitution - coding silent 5:138345300-138345300 + TCGA-G4-6322-01 COSM1242259 c.841C>T p.R281C Substitution - Missense 5:138345529-138345529 + TCGA-GM-A2D9-01 COSM3826842 c.829G>A p.D277N Substitution - Missense 5:138345517-138345517 + S00501 COSM311067 c.1076A>G p.E359G Substitution - Missense 5:138346856-138346856 + C91 COSM4444986 c.62G>A p.R21H Substitution - Missense 5:138341397-138341397 + S01578 COSM5670559 c.1059G>C p.L353L Substitution - coding silent 5:138346839-138346839 + PT55 COSM5941962 c.487C>T p.P163S Substitution - Missense 5:138345175-138345175 + TCGA-CD-A4MG-01 COSM3850420 c.326C>T p.P109L Substitution - Missense 5:138345014-138345014 + TCGA-A6-5665-01 COSM1433353 c.159_160insC p.H55fs*6 Insertion - Frameshift 5:138344847-138344848 + CSCC-29-T COSM4457580 c.1050C>T p.S350S Substitution - coding silent 5:138346830-138346830 + S02355 COSM5695806 c.737C>T p.P246L Substitution - Missense 5:138345425-138345425 + 35M COSM3608953 c.308C>T p.P103L Substitution - Missense 5:138344996-138344996 + TCGA-63-5128-01 COSM735558 c.365C>T p.S122L Substitution - Missense 5:138345053-138345053 + PT49 COSM5934967 c.466C>T p.P156S Substitution - Missense 5:138345154-138345154 + sysucc-834T COSM3608959 c.814C>T p.R272C Substitution - Missense 5:138345502-138345502 + TCGA-CH-5744-01 COSM1130931 c.842G>A p.R281H Substitution - Missense 5:138345530-138345530 + Pat_41_B COSM5867372 c.776C>T p.P259L Substitution - Missense 5:138345464-138345464 + Au1 COSM5596690 c.258C>T p.S86S Substitution - coding silent 5:138344946-138344946 + TCGA-BH-A0RX-01 COSM448651 c.779_785delGGCGACC p.W260fs*44 Deletion - Frameshift 5:138345467-138345473 + TCGA-EE-A2GB-06 COSM3608955 c.328C>T p.P110S Substitution - Missense 5:138345016-138345016 + ESO-717 COSM1242259 c.841C>T p.R281C Substitution - Missense 5:138345529-138345529 + 222 COSM4425329 c.404G>T p.R135L Substitution - Missense 5:138345092-138345092 + CHEWS031 COSM448652 c.867C>T p.H289H Substitution - coding silent 5:138345555-138345555 + Pat_06_A COSM5867371 c.467C>T p.P156L Substitution - Missense 5:138345155-138345155 + TCGA-CG-5723-01 COSM3850423 c.1014C>A p.P338P Substitution - coding silent 5:138346794-138346794 + TCGA-CG-4300-01 COSM3850421 c.426G>C p.W142C Substitution - Missense 5:138345114-138345114 + S02292 COSM5688005 c.338C>T p.P113L Substitution - Missense 5:138345026-138345026 + S00501 COSM311067 c.1076A>G p.E359G Substitution - Missense 5:138346856-138346856 + CHC892T COSM4797162 c.791G>A p.G264D Substitution - Missense 5:138345479-138345479 + Pat_70_B COSM5867370 c.307C>T p.P103S Substitution - Missense 5:138344995-138344995 + CSCC-7-T COSM4571687 c.514T>A p.F172I Substitution - Missense 5:138345202-138345202 + LAU63 COSM234696 c.606C>T p.S202S Substitution - coding silent 5:138345294-138345294 + TCGA-23-1111-01 COSM1328262 c.849T>G p.T283T Substitution - coding silent 5:138345537-138345537 + TCGA-AG-A002-01 COSM260802 c.921G>T p.Q307H Substitution - Missense 5:138345609-138345609 + LUAD-B01811 COSM334620 c.881G>T p.R294L Substitution - Missense 5:138345569-138345569 + 2293774 COSM4609798 c.1162_1163ins18 p.L388>* Unknown 5:138346942-138346943 + BN23 COSM1619528 c.1089T>C p.A363A Substitution - coding silent 5:138346869-138346869 + TCGA-HJ-7597-01 COSM3850418 c.20A>T p.E7V Substitution - Missense 5:138341355-138341355 + TCGA-CK-5916-01 COSM1433355 c.558C>T p.H186H Substitution - coding silent 5:138345246-138345246 + TCGA-19-2631 COSM2156395 c.994A>G p.M332V Substitution - Missense 5:138346774-138346774 + LUAD_E01047 COSM390257 c.709C>T p.L237L Substitution - coding silent 5:138345397-138345397 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.594648;Hs.594650;Hs.594653;Hs.594654;Hs.594655;Hs.594657;Hs.594658 5q31 609372

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E359G c.1076A>G 5 137682545 SCLC A G Missense p.M332V c.994A>G 5 137682463 GBM A G Missense p.Q161R c.482A>G 5 137680859 LUSC C A Missense p.L4M c.10C>A 5 137677034 LUAD CCTGGC - InFrameDeletion p.L198_A199delLA c.593_598delTGGCCC 5 137680962 CM C G 5-UTRSNV . c.1-45C>G 5 137676980 LUAD C G Missense p.P112A c.334C>G 5 137680711 CM C G Missense p.Q181E c.541C>G 5 137680918 LUAD C G Missense p.S251C c.752C>G 5 137681129 LUAD C T 3-UTRSNV . c.1176+46C>T 5 137682691 CM C T Missense p.P107L c.320C>T 5 137680697 CM C T Missense p.P110S c.328C>T 5 137680705 CM C T Missense p.R272C c.814C>T 5 137681191 CM C T Missense p.R365W c.1093C>T 5 137682562 UCEC C T Missense p.S122L c.365C>T 5 137680742 LUSC C T Missense p.S49F c.146C>T 5 137680523 CM C T Missense p.T13I c.38C>T 5 137677062 CM C T Synonymous p.F172F c.516C>T 5 137680893 CM C T Synonymous p.H289H c.867C>T 5 137681244 BRCA C T Synonymous p.L173L c.519C>T 5 137680896 CM C T Synonymous p.P269P c.807C>T 5 137681184 HNSC G A 3-UTRSNV . c.1176+1605G>A 5 137684250 HC G A Missense p.R187K c.560G>A 5 137680937 HNSC G A Missense p.R83Q c.248G>A 5 137680625 HNSC G A Missense p.V352M c.1054G>A 5 137682523 OV G C Missense p.R187T c.560G>C 5 137680937 CM G C Missense p.W142C c.426G>C 5 137680803 STAD - G Frameshift p.P136Afs*83 c.405dupG 5 137680781 GBM - G Frameshift p.P136Afs*83 c.405dupG 5 137680781 HNSC - G Frameshift p.P136Afs*83 c.405dupG 5 137680781 PRAD GGCGACC - Frameshift p.W260Ffs*44 c.779_785delGGCGACC 5 137681156 BRCA G T Missense p.Q307H c.921G>T 5 137681298 LUAD G T Missense p.R135L c.404G>T 5 137680781 HNSC G T Synonymous p.V364V c.1092G>T 5 137682561 OV