Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 12800811 12800813 + In_Frame_Del DEL CCA CCA - TCGA-OR-A5KV-01A-11D-A29I-10 TCGA-OR-A5KV-10A-01D-A29L-10 g.chr19:12800811_12800813delCCA c.1085_1087delTGG c.(1084-1089)gtggac>gac p.V362del ACC 19 12805414 12805414 + Silent SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr19:12805414G>A c.672C>T c.(670-672)acC>acT p.T224T BLCA 19 12800096 12800096 + Silent SNP A A T TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr19:12800096A>T c.1401T>A c.(1399-1401)gcT>gcA p.A467A BLCA 19 12800192 12800192 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr19:12800192G>A c.1386C>T c.(1384-1386)ctC>ctT p.L462L BLCA 19 12805444 12805444 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr19:12805444G>C c.642C>G c.(640-642)atC>atG p.I214M BLCA 19 12805724 12805724 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 g.chr19:12805724G>A c.438C>T c.(436-438)tgC>tgT p.C146C BLCA 19 12807003 12807003 + Frame_Shift_Del DEL G G - TCGA-UY-A78M-01A-21D-A34U-08 TCGA-UY-A78M-10A-01D-A34X-08 g.chr19:12807003delG c.393delC c.(391-393)cccfs p.P131fs BLCA 19 12807065 12807065 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr19:12807065G>C c.331C>G c.(331-333)Cgc>Ggc p.R111G BLCA 19 12807343 12807343 + Nonsense_Mutation SNP G G T TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr19:12807343G>T c.53C>A c.(52-54)tCg>tAg p.S18* BRCA 19 12802058 12802058 + Missense_Mutation SNP C C T TCGA-BH-A0BS-01A-11D-A12Q-09 TCGA-BH-A0BS-11A-11D-A12Q-09 g.chr19:12802058C>T c.805G>A c.(805-807)Gtg>Atg p.V269M CESC 19 12800031 12800031 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr19:12800031C>T c.1466G>A c.(1465-1467)tGa>tAa p.*489* CESC 19 12800192 12800192 + Silent SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 g.chr19:12800192G>C c.1386C>G c.(1384-1386)ctC>ctG p.L462L CESC 19 12805444 12805444 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr19:12805444G>C c.642C>G c.(640-642)atC>atG p.I214M COAD 19 12800596 12800596 + Silent SNP G G A TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr19:12800596G>A c.1215C>T c.(1213-1215)aaC>aaT p.N405N COAD 19 12805673 12805673 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:12805673G>A c.489C>T c.(487-489)gtC>gtT p.V163V COADREAD 19 12800596 12800596 + Silent SNP G G A TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr19:12800596G>A c.1215C>T c.(1213-1215)aaC>aaT p.N405N COADREAD 19 12805673 12805673 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:12805673G>A c.489C>T c.(487-489)gtC>gtT p.V163V DLBC 19 12800597 12800597 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:12800597T>C c.1214A>G c.(1213-1215)aAc>aGc p.N405S DLBC 19 12802009 12802009 + Missense_Mutation SNP T T C TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr19:12802009T>C c.854A>G c.(853-855)gAc>gGc p.D285G DLBC 19 12805431 12805431 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:12805431T>C c.655A>G c.(655-657)Act>Gct p.T219A DLBC 19 12805525 12805525 + Silent SNP G G C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:12805525G>C c.561C>G c.(559-561)ctC>ctG p.L187L DLBC 19 12807066 12807066 + Silent SNP G G C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:12807066G>C c.330C>G c.(328-330)ctC>ctG p.L110L DLBC 19 12807187 12807187 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:12807187C>T c.209G>A c.(208-210)aGg>aAg p.R70K ESCA 19 12800370 12800370 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr19:12800370A>G c.1311T>C c.(1309-1311)acT>acC p.T437T KICH 19 12807079 12807079 + Missense_Mutation SNP A A G TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr19:12807079A>G c.317T>C c.(316-318)gTg>gCg p.V106A KIPAN 19 12800616 12800616 + Missense_Mutation SNP G G A TCGA-A4-7287-01A-11D-2136-08 TCGA-A4-7287-10A-01D-2136-08 g.chr19:12800616G>A c.1195C>T c.(1195-1197)Cac>Tac p.H399Y KIPAN 19 12805491 12805491 + Missense_Mutation SNP A A T TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr19:12805491A>T c.595T>A c.(595-597)Ttg>Atg p.L199M KIPAN 19 12805525 12805525 + Silent SNP G G T TCGA-F9-A97G-01A-11D-A382-10 TCGA-F9-A97G-10A-01D-A385-10 g.chr19:12805525G>T c.561C>A c.(559-561)ctC>ctA p.L187L KIPAN 19 12807079 12807079 + Missense_Mutation SNP A A G TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr19:12807079A>G c.317T>C c.(316-318)gTg>gCg p.V106A KIPAN 19 12807200 12807200 + Missense_Mutation SNP G G A TCGA-CJ-5686-01A-11D-1669-08 TCGA-CJ-5686-11A-01D-1669-08 g.chr19:12807200G>A c.196C>T c.(196-198)Cgg>Tgg p.R66W KIPAN 19 12807385 12807385 + Missense_Mutation SNP G G T TCGA-BQ-7058-01A-11D-1961-08 TCGA-BQ-7058-11A-01D-1961-08 g.chr19:12807385G>T c.11C>A c.(10-12)cCc>cAc p.P4H KIRC 19 12807200 12807200 + Missense_Mutation SNP G G A TCGA-CJ-5686-01A-11D-1669-08 TCGA-CJ-5686-11A-01D-1669-08 g.chr19:12807200G>A c.196C>T c.(196-198)Cgg>Tgg p.R66W KIRP 19 12800616 12800616 + Missense_Mutation SNP G G A TCGA-A4-7287-01A-11D-2136-08 TCGA-A4-7287-10A-01D-2136-08 g.chr19:12800616G>A c.1195C>T c.(1195-1197)Cac>Tac p.H399Y KIRP 19 12805491 12805491 + Missense_Mutation SNP A A T TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr19:12805491A>T c.595T>A c.(595-597)Ttg>Atg p.L199M KIRP 19 12805525 12805525 + Silent SNP G G T TCGA-F9-A97G-01A-11D-A382-10 TCGA-F9-A97G-10A-01D-A385-10 g.chr19:12805525G>T c.561C>A c.(559-561)ctC>ctA p.L187L KIRP 19 12807385 12807385 + Missense_Mutation SNP G G T TCGA-BQ-7058-01A-11D-1961-08 TCGA-BQ-7058-11A-01D-1961-08 g.chr19:12807385G>T c.11C>A c.(10-12)cCc>cAc p.P4H LIHC 19 12805705 12805705 + Missense_Mutation SNP G G T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr19:12805705G>T c.457C>A c.(457-459)Ctg>Atg p.L153M LUAD 19 12800190 12800190 + Missense_Mutation SNP T T A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chr19:12800190T>A c.1388A>T c.(1387-1389)aAt>aTt p.N463I LUAD 19 12805682 12805682 + Silent SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr19:12805682C>T c.480G>A c.(478-480)ggG>ggA p.G160G LUAD 19 12805683 12805683 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr19:12805683C>A c.479G>T c.(478-480)gGg>gTg p.G160V LUAD 19 12807158 12807158 + Missense_Mutation SNP G G C TCGA-91-6840-01A-11D-1945-08 TCGA-91-6840-10A-01D-1946-08 g.chr19:12807158G>C c.238C>G c.(238-240)Ctg>Gtg p.L80V LUAD 19 12807321 12807321 + Missense_Mutation SNP G G C TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr19:12807321G>C c.75C>G c.(73-75)gaC>gaG p.D25E LUAD 19 12807331 12807331 + Missense_Mutation SNP G G A TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 g.chr19:12807331G>A c.65C>T c.(64-66)tCa>tTa p.S22L LUSC 19 12800594 12800595 + Missense_Mutation DNP CC CC AA TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr19:12800594_12800595CC>AA c.1216_1217GG>TT c.(1216-1218)GGc>TTc p.G406F LUSC 19 12800824 12800824 + Silent SNP G G A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr19:12800824G>A c.1074C>T c.(1072-1074)acC>acT p.T358T LUSC 19 12805660 12805660 + Missense_Mutation SNP G G C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr19:12805660G>C c.502C>G c.(502-504)Ctg>Gtg p.L168V LUSC 19 12807343 12807343 + Missense_Mutation SNP G G C TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr19:12807343G>C c.53C>G c.(52-54)tCg>tGg p.S18W OV 19 12800620 12800620 + Silent SNP C C G TCGA-13-0883-01A-02W-0420-08 TCGA-13-0883-10A-01D-0399-08 g.chr19:12800620C>G c.1191G>C c.(1189-1191)ctG>ctC p.L397L PRAD 19 12800212 12800212 + Nonsense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr19:12800212G>A c.1366C>T c.(1366-1368)Cga>Tga p.R456* SKCM 19 12800063 12800063 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr19:12800063G>A c.1434C>T c.(1432-1434)gaC>gaT p.D478D SKCM 19 12800361 12800361 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr19:12800361G>A c.1320C>T c.(1318-1320)acC>acT p.T440T SKCM 19 12800923 12800923 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr19:12800923G>A c.975C>T c.(973-975)gcC>gcT p.A325A SKCM 19 12800924 12800924 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr19:12800924G>A c.974C>T c.(973-975)gCc>gTc p.A325V SKCM 19 12802014 12802014 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:12802014G>A c.849C>T c.(847-849)acC>acT p.T283T SKCM 19 12802235 12802235 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr19:12802235G>C c.712C>G c.(712-714)Cgc>Ggc p.R238G SKCM 19 12805448 12805448 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr19:12805448A>G c.638T>C c.(637-639)cTg>cCg p.L213P SKCM 19 12807335 12807335 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr19:12807335C>T c.61G>A c.(61-63)Gag>Aag p.E21K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 12800930 12800930 insertion of <=200bp - GAA inframe_insertion H313HS BLCA-US 19 12800930 12800930 insertion of <=200bp - GAA inframe_insertion H323HS BLCA-US 19 12800930 12800930 insertion of <=200bp - GAA splice_region_variant BLCA-US 19 12800989 12800989 single base substitution G C intron_variant BLCA-US 19 12800989 12800989 single base substitution G C synonymous_variant L293L 879C>G BLCA-US 19 12800989 12800989 single base substitution G C synonymous_variant L303L 909C>G BLCA-US 19 12805444 12805444 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 19 12805444 12805444 single base substitution G C exon_variant BLCA-US 19 12805444 12805444 single base substitution G C missense_variant I204M 612C>G BLCA-US 19 12805444 12805444 single base substitution G C missense_variant I214M 642C>G BLCA-US 19 12807065 12807065 single base substitution G C 5_prime_UTR_variant BLCA-US 19 12807065 12807065 single base substitution G C exon_variant BLCA-US 19 12807065 12807065 single base substitution G C missense_variant R111G 331C>G BRCA-EU 19 12794090 12794090 single base substitution T C downstream_gene_variant BRCA-EU 19 12795301 12795301 single base substitution C G downstream_gene_variant BRCA-EU 19 12797270 12797270 single base substitution C A downstream_gene_variant BRCA-EU 19 12797547 12797547 single base substitution G C downstream_gene_variant BRCA-EU 19 12797592 12797592 single base substitution C A downstream_gene_variant BRCA-EU 19 12797755 12797755 single base substitution T G downstream_gene_variant BRCA-EU 19 12798944 12798944 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 12798944 12798944 single base substitution G A downstream_gene_variant BRCA-EU 19 12799575 12799575 single base substitution G A downstream_gene_variant BRCA-EU 19 12799575 12799575 single base substitution G A intron_variant BRCA-EU 19 12800116 12800116 single base substitution G A intron_variant BRCA-EU 19 12800190 12800190 single base substitution T C 3_prime_UTR_variant BRCA-EU 19 12800190 12800190 single base substitution T C missense_variant N171S 512A>G BRCA-EU 19 12800190 12800190 single base substitution T C missense_variant N433S 1298A>G BRCA-EU 19 12800190 12800190 single base substitution T C missense_variant N453S 1358A>G BRCA-EU 19 12800190 12800190 single base substitution T C missense_variant N463S 1388A>G BRCA-EU 19 12800505 12800505 single base substitution C A intron_variant BRCA-EU 19 12800960 12800960 single base substitution G C intron_variant BRCA-EU 19 12800960 12800960 single base substitution G C missense_variant S303C 908C>G BRCA-EU 19 12800960 12800960 single base substitution G C missense_variant S313C 938C>G BRCA-EU 19 12802087 12802087 single base substitution C T intron_variant BRCA-EU 19 12802218 12802218 single base substitution G A intron_variant BRCA-EU 19 12802218 12802218 single base substitution G A synonymous_variant S233S 699C>T BRCA-EU 19 12802218 12802218 single base substitution G A synonymous_variant S243S 729C>T BRCA-EU 19 12802356 12802356 single base substitution G T intron_variant BRCA-EU 19 12804238 12804238 single base substitution T A intron_variant BRCA-EU 19 12804239 12804239 single base substitution G A intron_variant BRCA-EU 19 12804897 12804897 single base substitution G C intron_variant BRCA-EU 19 12804971 12804971 single base substitution G C intron_variant BRCA-EU 19 12805088 12805088 single base substitution G C intron_variant BRCA-EU 19 12805304 12805304 single base substitution G C intron_variant BRCA-EU 19 12805529 12805529 single base substitution G A 5_prime_UTR_variant BRCA-EU 19 12805529 12805529 single base substitution G A exon_variant BRCA-EU 19 12805529 12805529 single base substitution G A missense_variant S176L 527C>T BRCA-EU 19 12805529 12805529 single base substitution G A missense_variant S186L 557C>T BRCA-EU 19 12806419 12806419 single base substitution C T intron_variant BRCA-EU 19 12806976 12806976 single base substitution G A intron_variant BRCA-EU 19 12807422 12807422 single base substitution C A 5_prime_UTR_variant BRCA-EU 19 12807422 12807422 single base substitution C A upstream_gene_variant BRCA-EU 19 12807712 12807712 single base substitution G A upstream_gene_variant BRCA-EU 19 12807788 12807788 single base substitution G A upstream_gene_variant BRCA-EU 19 12808056 12808056 single base substitution C A upstream_gene_variant BRCA-EU 19 12808088 12808088 single base substitution G C upstream_gene_variant BRCA-EU 19 12808844 12808844 single base substitution G A upstream_gene_variant BRCA-EU 19 12808927 12808927 single base substitution G C upstream_gene_variant BRCA-EU 19 12810211 12810211 single base substitution G C upstream_gene_variant BRCA-EU 19 12810597 12810597 single base substitution G A upstream_gene_variant BRCA-EU 19 12810863 12810863 single base substitution C T upstream_gene_variant BRCA-EU 19 12811531 12811531 single base substitution G C upstream_gene_variant BRCA-EU 19 12811978 12811978 deletion of <=200bp C - upstream_gene_variant BRCA-FR 19 12794213 12794213 single base substitution C T downstream_gene_variant BRCA-FR 19 12794277 12794277 single base substitution C T downstream_gene_variant BRCA-FR 19 12807479 12807479 single base substitution T C upstream_gene_variant BRCA-FR 19 12808088 12808088 single base substitution G C upstream_gene_variant BRCA-UK 19 12795651 12795651 single base substitution G A downstream_gene_variant BRCA-UK 19 12810328 12810328 single base substitution G A upstream_gene_variant BRCA-US 19 12800969 12800969 single base substitution G C intron_variant BRCA-US 19 12800969 12800969 single base substitution G C missense_variant S300W 899C>G BRCA-US 19 12800969 12800969 single base substitution G C missense_variant S310W 929C>G BRCA-US 19 12800973 12800973 insertion of <=200bp - C frameshift_variant P299R? BRCA-US 19 12800973 12800973 insertion of <=200bp - C frameshift_variant P309R? BRCA-US 19 12800973 12800973 insertion of <=200bp - C intron_variant BRCA-US 19 12802058 12802058 single base substitution C T 3_prime_UTR_variant BRCA-US 19 12802058 12802058 single base substitution C T missense_variant V259M 775G>A BRCA-US 19 12802058 12802058 single base substitution C T missense_variant V269M 805G>A BRCA-US 19 12802058 12802058 single base substitution C T missense_variant V7M 19G>A BTCA-JP 19 12799303 12799303 single base substitution G C downstream_gene_variant BTCA-JP 19 12799303 12799303 single base substitution G C intron_variant BTCA-JP 19 12800396 12800396 single base substitution C T 3_prime_UTR_variant BTCA-JP 19 12800396 12800396 single base substitution C T missense_variant V137M 409G>A BTCA-JP 19 12800396 12800396 single base substitution C T missense_variant V399M 1195G>A BTCA-JP 19 12800396 12800396 single base substitution C T missense_variant V419M 1255G>A BTCA-JP 19 12800396 12800396 single base substitution C T missense_variant V429M 1285G>A BTCA-JP 19 12800974 12800974 deletion of <=200bp C - frameshift_variant G298 BTCA-JP 19 12800974 12800974 deletion of <=200bp C - frameshift_variant G308 BTCA-JP 19 12800974 12800974 deletion of <=200bp C - intron_variant CESC-US 19 12800031 12800031 single base substitution C T 3_prime_UTR_variant CESC-US 19 12800031 12800031 single base substitution C T stop_retained_variant *197* 590G>A CESC-US 19 12800031 12800031 single base substitution C T stop_retained_variant *459* 1376G>A CESC-US 19 12800031 12800031 single base substitution C T stop_retained_variant *479* 1436G>A CESC-US 19 12800031 12800031 single base substitution C T stop_retained_variant *489* 1466G>A CESC-US 19 12800192 12800192 single base substitution G C 3_prime_UTR_variant CESC-US 19 12800192 12800192 single base substitution G C synonymous_variant L170L 510C>G CESC-US 19 12800192 12800192 single base substitution G C synonymous_variant L432L 1296C>G CESC-US 19 12800192 12800192 single base substitution G C synonymous_variant L452L 1356C>G CESC-US 19 12800192 12800192 single base substitution G C synonymous_variant L462L 1386C>G CESC-US 19 12805444 12805444 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 19 12805444 12805444 single base substitution G C exon_variant CESC-US 19 12805444 12805444 single base substitution G C missense_variant I204M 612C>G CESC-US 19 12805444 12805444 single base substitution G C missense_variant I214M 642C>G CLLE-ES 19 12802931 12802931 single base substitution T A intron_variant COAD-US 19 12805525 12805525 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant COAD-US 19 12805525 12805525 single base substitution G C exon_variant COAD-US 19 12805525 12805525 single base substitution G C synonymous_variant L177L 531C>G COAD-US 19 12805525 12805525 single base substitution G C synonymous_variant L187L 561C>G COAD-US 19 12805673 12805673 single base substitution G A intron_variant COAD-US 19 12805673 12805673 single base substitution G A synonymous_variant V153V 459C>T COAD-US 19 12805673 12805673 single base substitution G A synonymous_variant V163V 489C>T COAD-US 19 12807066 12807066 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant COAD-US 19 12807066 12807066 single base substitution G C exon_variant COAD-US 19 12807066 12807066 single base substitution G C synonymous_variant L110L 330C>G COAD-US 19 12807187 12807187 single base substitution C T 5_prime_UTR_variant COAD-US 19 12807187 12807187 single base substitution C T exon_variant COAD-US 19 12807187 12807187 single base substitution C T missense_variant R70K 209G>A COAD-US 19 12807267 12807267 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 19 12807267 12807267 single base substitution G A exon_variant COAD-US 19 12807267 12807267 single base substitution G A synonymous_variant S43S 129C>T COAD-US 19 12807326 12807326 single base substitution T C 5_prime_UTR_variant COAD-US 19 12807326 12807326 single base substitution T C exon_variant COAD-US 19 12807326 12807326 single base substitution T C missense_variant T24A 70A>G COAD-US 19 12812169 12812169 single base substitution A G upstream_gene_variant COCA-CN 19 12799192 12799192 single base substitution G T downstream_gene_variant COCA-CN 19 12799192 12799192 single base substitution G T intron_variant COCA-CN 19 12805544 12805544 single base substitution G T splice_region_variant COCA-CN 19 12805651 12805651 single base substitution C T intron_variant COCA-CN 19 12805651 12805651 single base substitution C T missense_variant G161S 481G>A COCA-CN 19 12805651 12805651 single base substitution C T missense_variant G171S 511G>A ESAD-UK 19 12794144 12794144 single base substitution G A downstream_gene_variant ESAD-UK 19 12805900 12805900 single base substitution G A intron_variant ESAD-UK 19 12806670 12806670 single base substitution C G intron_variant ESAD-UK 19 12810959 12810959 single base substitution A T upstream_gene_variant ESAD-UK 19 12811708 12811708 single base substitution C T upstream_gene_variant ESAD-UK 19 12812200 12812200 single base substitution G A upstream_gene_variant ESCA-CN 19 12799790 12799790 deletion of <=200bp A - 3_prime_UTR_variant ESCA-CN 19 12799790 12799790 deletion of <=200bp A - downstream_gene_variant ESCA-CN 19 12799790 12799790 deletion of <=200bp A - intron_variant ESCA-CN 19 12800881 12800881 single base substitution G A 3_prime_UTR_variant ESCA-CN 19 12800881 12800881 single base substitution G A synonymous_variant P309P 927C>T ESCA-CN 19 12800881 12800881 single base substitution G A synonymous_variant P329P 987C>T ESCA-CN 19 12800881 12800881 single base substitution G A synonymous_variant P339P 1017C>T ESCA-CN 19 12800881 12800881 single base substitution G A synonymous_variant P47P 141C>T KIRC-US 19 12807200 12807200 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 19 12807200 12807200 single base substitution G A exon_variant KIRC-US 19 12807200 12807200 single base substitution G A missense_variant R66W 196C>T KIRP-US 19 12800616 12800616 single base substitution G A 3_prime_UTR_variant KIRP-US 19 12800616 12800616 single base substitution G A missense_variant H107Y 319C>T KIRP-US 19 12800616 12800616 single base substitution G A missense_variant H369Y 1105C>T KIRP-US 19 12800616 12800616 single base substitution G A missense_variant H389Y 1165C>T KIRP-US 19 12800616 12800616 single base substitution G A missense_variant H399Y 1195C>T KIRP-US 19 12807385 12807385 single base substitution G T 5_prime_UTR_variant KIRP-US 19 12807385 12807385 single base substitution G T exon_variant KIRP-US 19 12807385 12807385 single base substitution G T missense_variant P4H 11C>A LICA-CN 19 12800057 12800057 single base substitution C T 3_prime_UTR_variant LICA-CN 19 12800057 12800057 single base substitution C T synonymous_variant S188S 564G>A LICA-CN 19 12800057 12800057 single base substitution C T synonymous_variant S450S 1350G>A LICA-CN 19 12800057 12800057 single base substitution C T synonymous_variant S470S 1410G>A LICA-CN 19 12800057 12800057 single base substitution C T synonymous_variant S480S 1440G>A LICA-CN 19 12807119 12807119 single base substitution A G 5_prime_UTR_variant LICA-CN 19 12807119 12807119 single base substitution A G exon_variant LICA-CN 19 12807119 12807119 single base substitution A G missense_variant Y93H 277T>C LICA-FR 19 12800444 12800444 single base substitution A G missense_variant S121P 361T>C LICA-FR 19 12800444 12800444 single base substitution A G missense_variant S383P 1147T>C LICA-FR 19 12800444 12800444 single base substitution A G missense_variant S403P 1207T>C LICA-FR 19 12800444 12800444 single base substitution A G missense_variant S413P 1237T>C LICA-FR 19 12800444 12800444 single base substitution A G splice_region_variant LICA-FR 19 12810250 12810250 single base substitution T A upstream_gene_variant LINC-JP 19 12794092 12794092 single base substitution T G downstream_gene_variant LINC-JP 19 12794113 12794113 single base substitution G A downstream_gene_variant LINC-JP 19 12797902 12797902 single base substitution C G downstream_gene_variant LIRI-JP 19 12794807 12794807 single base substitution C T downstream_gene_variant LIRI-JP 19 12795062 12795062 single base substitution T G downstream_gene_variant LIRI-JP 19 12797951 12797951 single base substitution A C downstream_gene_variant LIRI-JP 19 12799508 12799508 single base substitution A G downstream_gene_variant LIRI-JP 19 12799508 12799508 single base substitution A G intron_variant LIRI-JP 19 12801169 12801169 single base substitution C A intron_variant LIRI-JP 19 12801783 12801783 single base substitution C A intron_variant LIRI-JP 19 12807801 12807801 single base substitution T G upstream_gene_variant LUSC-KR 19 12794297 12794297 single base substitution C A downstream_gene_variant LUSC-KR 19 12797447 12797447 single base substitution G A downstream_gene_variant LUSC-KR 19 12800735 12800735 single base substitution G C intron_variant LUSC-KR 19 12810168 12810168 single base substitution C G upstream_gene_variant LUSC-KR 19 12810320 12810320 single base substitution C T upstream_gene_variant LUSC-US 19 12800594 12800594 single base substitution C A 3_prime_UTR_variant LUSC-US 19 12800594 12800594 single base substitution C A missense_variant G114V 341G>T LUSC-US 19 12800594 12800594 single base substitution C A missense_variant G376V 1127G>T LUSC-US 19 12800594 12800594 single base substitution C A missense_variant G396V 1187G>T LUSC-US 19 12800594 12800594 single base substitution C A missense_variant G406V 1217G>T LUSC-US 19 12800595 12800595 single base substitution C A 3_prime_UTR_variant LUSC-US 19 12800595 12800595 single base substitution C A missense_variant G114C 340G>T LUSC-US 19 12800595 12800595 single base substitution C A missense_variant G376C 1126G>T LUSC-US 19 12800595 12800595 single base substitution C A missense_variant G396C 1186G>T LUSC-US 19 12800595 12800595 single base substitution C A missense_variant G406C 1216G>T LUSC-US 19 12800824 12800824 single base substitution G A 3_prime_UTR_variant LUSC-US 19 12800824 12800824 single base substitution G A synonymous_variant T328T 984C>T LUSC-US 19 12800824 12800824 single base substitution G A synonymous_variant T348T 1044C>T LUSC-US 19 12800824 12800824 single base substitution G A synonymous_variant T358T 1074C>T LUSC-US 19 12800824 12800824 single base substitution G A synonymous_variant T66T 198C>T LUSC-US 19 12805660 12805660 single base substitution G C intron_variant LUSC-US 19 12805660 12805660 single base substitution G C missense_variant L158V 472C>G LUSC-US 19 12805660 12805660 single base substitution G C missense_variant L168V 502C>G LUSC-US 19 12807343 12807343 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 19 12807343 12807343 single base substitution G C exon_variant LUSC-US 19 12807343 12807343 single base substitution G C missense_variant S18W 53C>G MALY-DE 19 12795307 12795307 single base substitution C T downstream_gene_variant MALY-DE 19 12797433 12797433 single base substitution G A downstream_gene_variant MELA-AU 19 12794615 12794615 single base substitution C T downstream_gene_variant MELA-AU 19 12795856 12795856 single base substitution A T downstream_gene_variant MELA-AU 19 12796068 12796068 single base substitution G A downstream_gene_variant MELA-AU 19 12796262 12796262 single base substitution C T downstream_gene_variant MELA-AU 19 12796939 12796939 single base substitution C T downstream_gene_variant MELA-AU 19 12797383 12797383 single base substitution G A downstream_gene_variant MELA-AU 19 12797451 12797451 single base substitution C A downstream_gene_variant MELA-AU 19 12797611 12797611 single base substitution G A downstream_gene_variant MELA-AU 19 12798170 12798170 single base substitution G A downstream_gene_variant MELA-AU 19 12798519 12798519 single base substitution G C downstream_gene_variant MELA-AU 19 12798690 12798690 single base substitution G A downstream_gene_variant MELA-AU 19 12798913 12798913 single base substitution A G 3_prime_UTR_variant MELA-AU 19 12798913 12798913 single base substitution A G downstream_gene_variant MELA-AU 19 12799162 12799162 single base substitution G A downstream_gene_variant MELA-AU 19 12799162 12799162 single base substitution G A intron_variant MELA-AU 19 12799403 12799403 single base substitution G A downstream_gene_variant MELA-AU 19 12799403 12799403 single base substitution G A intron_variant MELA-AU 19 12799576 12799576 single base substitution G A downstream_gene_variant MELA-AU 19 12799576 12799576 single base substitution G A intron_variant MELA-AU 19 12799627 12799627 single base substitution G A downstream_gene_variant MELA-AU 19 12799627 12799627 single base substitution G A intron_variant MELA-AU 19 12799775 12799775 single base substitution G A 3_prime_UTR_variant MELA-AU 19 12799775 12799775 single base substitution G A downstream_gene_variant MELA-AU 19 12799775 12799775 single base substitution G A intron_variant MELA-AU 19 12799865 12799865 single base substitution C T 3_prime_UTR_variant MELA-AU 19 12799865 12799865 single base substitution C T downstream_gene_variant MELA-AU 19 12799865 12799865 single base substitution C T intron_variant MELA-AU 19 12800213 12800213 single base substitution G A 3_prime_UTR_variant MELA-AU 19 12800213 12800213 single base substitution G A synonymous_variant T163T 489C>T MELA-AU 19 12800213 12800213 single base substitution G A synonymous_variant T425T 1275C>T MELA-AU 19 12800213 12800213 single base substitution G A synonymous_variant T445T 1335C>T MELA-AU 19 12800213 12800213 single base substitution G A synonymous_variant T455T 1365C>T MELA-AU 19 12800354 12800355 multiple base substitution (>=2bp and <=200bp) CC TT splice_donor_variant MELA-AU 19 12801093 12801093 single base substitution G A intron_variant MELA-AU 19 12801153 12801153 single base substitution G A intron_variant MELA-AU 19 12801721 12801721 single base substitution G A intron_variant MELA-AU 19 12801950 12801950 single base substitution C A intron_variant MELA-AU 19 12801958 12801958 single base substitution G A intron_variant MELA-AU 19 12802839 12802839 single base substitution G A intron_variant MELA-AU 19 12803608 12803608 single base substitution G A intron_variant MELA-AU 19 12803899 12803899 single base substitution G A intron_variant MELA-AU 19 12804793 12804793 single base substitution G A intron_variant MELA-AU 19 12805063 12805063 single base substitution G A intron_variant MELA-AU 19 12805503 12805503 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 12805503 12805503 single base substitution G A exon_variant MELA-AU 19 12805503 12805503 single base substitution G A missense_variant R185C 553C>T MELA-AU 19 12805503 12805503 single base substitution G A missense_variant R195C 583C>T MELA-AU 19 12805825 12805826 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 12805847 12805847 single base substitution C T intron_variant MELA-AU 19 12805905 12805905 single base substitution A G intron_variant MELA-AU 19 12805984 12805984 single base substitution G A intron_variant MELA-AU 19 12806226 12806226 single base substitution G A intron_variant MELA-AU 19 12806310 12806310 single base substitution G A intron_variant MELA-AU 19 12806466 12806466 single base substitution C T intron_variant MELA-AU 19 12807446 12807446 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 12807446 12807446 single base substitution G A upstream_gene_variant MELA-AU 19 12807456 12807456 single base substitution C T 5_prime_UTR_variant MELA-AU 19 12807456 12807456 single base substitution C T upstream_gene_variant MELA-AU 19 12807490 12807490 single base substitution G A upstream_gene_variant MELA-AU 19 12808087 12808087 single base substitution G C upstream_gene_variant MELA-AU 19 12808143 12808143 single base substitution G A upstream_gene_variant MELA-AU 19 12808440 12808440 single base substitution T G upstream_gene_variant MELA-AU 19 12810656 12810656 single base substitution G A upstream_gene_variant MELA-AU 19 12810737 12810737 single base substitution G A upstream_gene_variant MELA-AU 19 12810738 12810738 single base substitution G A upstream_gene_variant MELA-AU 19 12810744 12810744 single base substitution A G upstream_gene_variant MELA-AU 19 12810888 12810889 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 12811301 12811301 single base substitution C G upstream_gene_variant MELA-AU 19 12812273 12812273 single base substitution G A upstream_gene_variant MELA-AU 19 12812315 12812315 single base substitution A T upstream_gene_variant OV-AU 19 12798175 12798175 single base substitution T G downstream_gene_variant OV-AU 19 12802112 12802112 single base substitution C G intron_variant OV-AU 19 12802315 12802315 single base substitution G T intron_variant OV-AU 19 12807057 12807057 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant OV-AU 19 12807057 12807057 single base substitution G C exon_variant OV-AU 19 12807057 12807057 single base substitution G C synonymous_variant L113L 339C>G OV-AU 19 12809974 12809974 single base substitution A C upstream_gene_variant PACA-AU 19 12795997 12795997 deletion of <=200bp A - downstream_gene_variant PACA-AU 19 12797743 12797743 single base substitution T C downstream_gene_variant PACA-AU 19 12798965 12798965 single base substitution G A 3_prime_UTR_variant PACA-AU 19 12798965 12798965 single base substitution G A downstream_gene_variant PACA-AU 19 12800923 12800923 single base substitution G A splice_region_variant PACA-AU 19 12800923 12800923 single base substitution G A synonymous_variant A315A 945C>T PACA-AU 19 12800923 12800923 single base substitution G A synonymous_variant A325A 975C>T PACA-AU 19 12810298 12810298 single base substitution A G upstream_gene_variant PACA-CA 19 12794091 12794091 single base substitution A T downstream_gene_variant PACA-CA 19 12795293 12795293 single base substitution C T downstream_gene_variant PACA-CA 19 12797197 12797197 single base substitution C T downstream_gene_variant PACA-CA 19 12799635 12799635 single base substitution A T downstream_gene_variant PACA-CA 19 12799635 12799635 single base substitution A T intron_variant PACA-CA 19 12801029 12801029 single base substitution G A intron_variant PACA-CA 19 12801531 12801531 single base substitution A G intron_variant PACA-CA 19 12802223 12802223 single base substitution C T intron_variant PACA-CA 19 12802223 12802223 single base substitution C T missense_variant G232S 694G>A PACA-CA 19 12802223 12802223 single base substitution C T missense_variant G242S 724G>A PACA-CA 19 12803830 12803830 single base substitution C T intron_variant PACA-CA 19 12805781 12805781 single base substitution G T intron_variant PACA-CA 19 12806977 12806977 single base substitution C T intron_variant PACA-CA 19 12807323 12807323 deletion of <=200bp C - 5_prime_UTR_variant PACA-CA 19 12807323 12807323 deletion of <=200bp C - exon_variant PACA-CA 19 12807323 12807323 deletion of <=200bp C - frameshift_variant D25 PACA-CA 19 12810340 12810340 single base substitution A G upstream_gene_variant PAEN-AU 19 12809235 12809235 single base substitution T C upstream_gene_variant PBCA-DE 19 12806848 12806848 single base substitution C A intron_variant PRAD-CA 19 12801219 12801219 single base substitution T C intron_variant PRAD-CA 19 12804202 12804202 single base substitution G A intron_variant PRAD-CA 19 12810280 12810280 single base substitution A T upstream_gene_variant PRAD-UK 19 12797973 12797973 single base substitution G A downstream_gene_variant PRAD-UK 19 12798327 12798327 single base substitution A C downstream_gene_variant PRAD-UK 19 12799192 12799192 single base substitution G C downstream_gene_variant PRAD-UK 19 12799192 12799192 single base substitution G C intron_variant PRAD-UK 19 12799988 12799988 single base substitution C A 3_prime_UTR_variant PRAD-UK 19 12799988 12799988 single base substitution C A downstream_gene_variant PRAD-UK 19 12808866 12808866 single base substitution C T upstream_gene_variant PRAD-US 19 12800212 12800212 single base substitution G A 3_prime_UTR_variant PRAD-US 19 12800212 12800212 single base substitution G A stop_gained R164* 490C>T PRAD-US 19 12800212 12800212 single base substitution G A stop_gained R426* 1276C>T PRAD-US 19 12800212 12800212 single base substitution G A stop_gained R446* 1336C>T PRAD-US 19 12800212 12800212 single base substitution G A stop_gained R456* 1366C>T SKCA-BR 19 12794133 12794133 single base substitution A G downstream_gene_variant SKCA-BR 19 12795224 12795224 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 19 12800710 12800710 single base substitution G A intron_variant SKCA-BR 19 12803951 12803951 single base substitution G A intron_variant SKCA-BR 19 12804822 12804822 single base substitution T G intron_variant SKCA-BR 19 12804853 12804853 single base substitution T A intron_variant SKCA-BR 19 12806130 12806130 single base substitution A G intron_variant SKCA-BR 19 12808495 12808495 single base substitution T G upstream_gene_variant SKCA-BR 19 12811265 12811265 single base substitution A C upstream_gene_variant SKCA-BR 19 12812012 12812012 single base substitution C T upstream_gene_variant SKCM-US 19 12799935 12799935 single base substitution G A 3_prime_UTR_variant SKCM-US 19 12799935 12799935 single base substitution G A downstream_gene_variant SKCM-US 19 12799959 12799959 single base substitution G A 3_prime_UTR_variant SKCM-US 19 12799959 12799959 single base substitution G A downstream_gene_variant SKCM-US 19 12799973 12799973 single base substitution G A 3_prime_UTR_variant SKCM-US 19 12799973 12799973 single base substitution G A downstream_gene_variant SKCM-US 19 12800063 12800063 single base substitution G A 3_prime_UTR_variant SKCM-US 19 12800063 12800063 single base substitution G A synonymous_variant D186D 558C>T SKCM-US 19 12800063 12800063 single base substitution G A synonymous_variant D448D 1344C>T SKCM-US 19 12800063 12800063 single base substitution G A synonymous_variant D468D 1404C>T SKCM-US 19 12800063 12800063 single base substitution G A synonymous_variant D478D 1434C>T SKCM-US 19 12800361 12800361 single base substitution G A 3_prime_UTR_variant SKCM-US 19 12800361 12800361 single base substitution G A synonymous_variant T148T 444C>T SKCM-US 19 12800361 12800361 single base substitution G A synonymous_variant T410T 1230C>T SKCM-US 19 12800361 12800361 single base substitution G A synonymous_variant T430T 1290C>T SKCM-US 19 12800361 12800361 single base substitution G A synonymous_variant T440T 1320C>T SKCM-US 19 12800953 12800953 single base substitution G A intron_variant SKCM-US 19 12800953 12800953 single base substitution G A synonymous_variant I305I 915C>T SKCM-US 19 12800953 12800953 single base substitution G A synonymous_variant I315I 945C>T SKCM-US 19 12802014 12802014 single base substitution G A 3_prime_UTR_variant SKCM-US 19 12802014 12802014 single base substitution G A synonymous_variant T21T 63C>T SKCM-US 19 12802014 12802014 single base substitution G A synonymous_variant T273T 819C>T SKCM-US 19 12802014 12802014 single base substitution G A synonymous_variant T283T 849C>T SKCM-US 19 12802235 12802235 single base substitution G C intron_variant SKCM-US 19 12802235 12802235 single base substitution G C missense_variant R228G 682C>G SKCM-US 19 12802235 12802235 single base substitution G C missense_variant R238G 712C>G SKCM-US 19 12805448 12805448 single base substitution A G 5_prime_UTR_variant SKCM-US 19 12805448 12805448 single base substitution A G exon_variant SKCM-US 19 12805448 12805448 single base substitution A G missense_variant L203P 608T>C SKCM-US 19 12805448 12805448 single base substitution A G missense_variant L213P 638T>C SKCM-US 19 12807335 12807335 single base substitution C T 5_prime_UTR_variant SKCM-US 19 12807335 12807335 single base substitution C T exon_variant SKCM-US 19 12807335 12807335 single base substitution C T missense_variant E21K 61G>A STAD-US 19 12800036 12800036 single base substitution C T 3_prime_UTR_variant STAD-US 19 12800036 12800036 single base substitution C T synonymous_variant Q195Q 585G>A STAD-US 19 12800036 12800036 single base substitution C T synonymous_variant Q457Q 1371G>A STAD-US 19 12800036 12800036 single base substitution C T synonymous_variant Q477Q 1431G>A STAD-US 19 12800036 12800036 single base substitution C T synonymous_variant Q487Q 1461G>A STAD-US 19 12800607 12800607 single base substitution C T 3_prime_UTR_variant STAD-US 19 12800607 12800607 single base substitution C T missense_variant A110T 328G>A STAD-US 19 12800607 12800607 single base substitution C T missense_variant A372T 1114G>A STAD-US 19 12800607 12800607 single base substitution C T missense_variant A392T 1174G>A STAD-US 19 12800607 12800607 single base substitution C T missense_variant A402T 1204G>A STAD-US 19 12800856 12800856 single base substitution G A 3_prime_UTR_variant STAD-US 19 12800856 12800856 single base substitution G A missense_variant R318W 952C>T STAD-US 19 12800856 12800856 single base substitution G A missense_variant R338W 1012C>T STAD-US 19 12800856 12800856 single base substitution G A missense_variant R348W 1042C>T STAD-US 19 12800856 12800856 single base substitution G A missense_variant R56W 166C>T STAD-US 19 12800974 12800974 insertion of <=200bp - C frameshift_variant G298G? STAD-US 19 12800974 12800974 insertion of <=200bp - C frameshift_variant G308G? STAD-US 19 12800974 12800974 insertion of <=200bp - C intron_variant STAD-US 19 12805508 12805508 single base substitution C T 5_prime_UTR_variant STAD-US 19 12805508 12805508 single base substitution C T exon_variant STAD-US 19 12805508 12805508 single base substitution C T missense_variant R183Q 548G>A STAD-US 19 12805508 12805508 single base substitution C T missense_variant R193Q 578G>A STAD-US 19 12812201 12812201 single base substitution G A upstream_gene_variant THCA-SA 19 12805497 12805497 single base substitution C T 5_prime_UTR_variant THCA-SA 19 12805497 12805497 single base substitution C T exon_variant THCA-SA 19 12805497 12805497 single base substitution C T missense_variant V187I 559G>A THCA-SA 19 12805497 12805497 single base substitution C T missense_variant V197I 589G>A THCA-SA 19 12811045 12811045 single base substitution T C upstream_gene_variant THCA-SA 19 12811379 12811379 single base substitution T C upstream_gene_variant UCEC-US 19 12800211 12800211 single base substitution C T 3_prime_UTR_variant UCEC-US 19 12800211 12800211 single base substitution C T missense_variant R164Q 491G>A UCEC-US 19 12800211 12800211 single base substitution C T missense_variant R426Q 1277G>A UCEC-US 19 12800211 12800211 single base substitution C T missense_variant R446Q 1337G>A UCEC-US 19 12800211 12800211 single base substitution C T missense_variant R456Q 1367G>A UCEC-US 19 12800784 12800784 single base substitution G A 3_prime_UTR_variant UCEC-US 19 12800784 12800784 single base substitution G A missense_variant R342C 1024C>T UCEC-US 19 12800784 12800784 single base substitution G A missense_variant R362C 1084C>T UCEC-US 19 12800784 12800784 single base substitution G A missense_variant R372C 1114C>T UCEC-US 19 12800784 12800784 single base substitution G A missense_variant R80C 238C>T UCEC-US 19 12801980 12801980 single base substitution C A missense_variant A295S 883G>T UCEC-US 19 12801980 12801980 single base substitution C A missense_variant A33S 97G>T UCEC-US 19 12801980 12801980 single base substitution C A missense_variant D285Y 853G>T UCEC-US 19 12801980 12801980 single base substitution C A missense_variant D295Y 883G>T UCEC-US 19 12801980 12801980 single base substitution C A splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A2MJ-06 COSM3528799 c.284C>T p.P95L Substitution - Missense 19:12689547-12689547 - TCGA-A4-7287-01 COSM3989713 c.159C>T p.C53C Substitution - coding silent 19:12689802-12689802 - PD9702a COSM5772658 c.352A>G p.I118V Substitution - Missense 19:12689376-12689376 - TCGA-B5-A0JY-01 COSM991407 c.331G>A p.E111K Substitution - Missense 19:12689397-12689397 - C086 COSM5531125 c.309C>T p.T103T Substitution - coding silent 19:12689419-12689419 - CADO-ES1 COSM1390621 c.179C>T p.T60M Substitution - Missense 19:12689782-12689782 - Au4 COSM5603576 c.329C>T p.P110L Substitution - Missense 19:12689399-12689399 - TCGA-EE-A2GC-06 COSM3528796 c.398C>T p.T133I Substitution - Missense 19:12689249-12689249 - BD124T COSM5493839 c.249G>A p.P83P Substitution - coding silent 19:12689582-12689582 - TCGA-BI-A0VR-01 COSM460064 c.350C>G p.S117* Substitution - Nonsense 19:12689378-12689378 - TCGA-22-4613-01 COSM709941 c.181G>T p.A61S Substitution - Missense 19:12689780-12689780 - TCGA-13-0883-01 COSM79855 c.155G>C p.C52S Substitution - Missense 19:12689806-12689806 - TCGA-66-2744-01 COSM709938 c.38C>T p.P13L Substitution - Missense 19:12690010-12690010 - P05-3852 COSM244480 c.381G>T p.W127C Substitution - Missense 19:12689266-12689266 - SJDOSTEOS013 COSM5760341 c.201-7C>A p.? Unknown 19:12689637-12689637 - 250LT COSM4382202 c.27G>A p.A9A Substitution - coding silent 19:12690021-12690021 - CHC2098T COSM4788289 c.201T>C p.G67G Substitution - coding silent 19:12689630-12689630 - TCGA-KK-A59V-01 COSM4878297 c.330C>T p.P110P Substitution - coding silent 19:12689398-12689398 - HCC025T COSM2816235 c.404G>A p.R135H Substitution - Missense 19:12689243-12689243 - TCGA-HU-8602-01 COSM4074400 c.168G>A p.S56S Substitution - coding silent 19:12689793-12689793 - TCGA-AP-A0LM-01 COSM991408 c.78C>T p.S26S Substitution - coding silent 19:12689970-12689970 - TCGA-BR-7851-01 COSM4074403 c.6C>T p.T2T Substitution - coding silent 19:12690042-12690042 - TCGA-22-4613-01 COSM709939 c.180G>T p.T60T Substitution - coding silent 19:12689781-12689781 - TC71 COSM2816257 c.34A>C p.T12P Substitution - Missense 19:12690014-12690014 - T2932 COSM4684155 c.386C>T p.P129L Substitution - Missense 19:12689261-12689261 - CHC2098T COSM4788289 c.201T>C p.G67G Substitution - coding silent 19:12689630-12689630 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515154 19p13.2 609074

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1374+58T>C 19 12799975 CM C A Missense p.A295S c.883G>T 19 12801980 UCEC C A Missense p.G376C c.1126G>T 19 12800595 LUSC C A Missense p.G376V c.1127G>T 19 12800594 LUSC C G Synonymous p.L367L c.1101G>C 19 12800620 OV C T 5-UTRSNV . c.1-61G>A 19 12807456 CM C T Missense p.E21K c.61G>A 19 12807335 CM C T Missense p.V269M c.805G>A 19 12802058 BRCA C T Synonymous p.L313L c.939G>A 19 12800869 HNSC - GAA IntronicInsertion . c.884-8_884-7insTTC 19 12800931 BLCA G A IntronicSNV . c.884-14C>T 19 12800938 NB G A IntronicSNV . c.884-29C>T 19 12800953 CM G A IntronicSNV . c.884-94C>T 19 12801018 ESCA G A Missense p.R66W c.196C>T 19 12807200 RCCC G A Missense p.S22L c.65C>T 19 12807331 LUAD G A Synonymous p.D448D c.1344C>T 19 12800063 CM G A Synonymous p.T328T c.984C>T 19 12800824 LUSC G A Synonymous p.T410T c.1230C>T 19 12800361 CM G C IntronicSNV . c.884-45C>G 19 12800969 BRCA G C Missense p.I214M c.642C>G 19 12805444 BLCA G C Missense p.L168V c.502C>G 19 12805660 LUSC G C Missense p.R238G c.712C>G 19 12802235 CM G C Missense p.S18W c.53C>G 19 12807343 LUSC G C Missense p.S48W c.143C>G 19 12807253 ALL GG AA SpliceAcceptorBlockSubstitution . c.884_885delinsTT 19 12800923 CM T A IntronicSNV . c.679-663A>T 19 12802931 CLL