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 18 29598847 29598847 + Silent SNP C C T TCGA-OR-A5JV-01A-11D-A29I-10 TCGA-OR-A5JV-10A-01D-A29L-10 g.chr18:29598847C>T c.21C>T c.(19-21)acC>acT p.T7T BLCA 18 29598873 29598873 + Missense_Mutation SNP C C T TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr18:29598873C>T c.47C>T c.(46-48)tCt>tTt p.S16F BLCA 18 29617078 29617078 + Splice_Site SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr18:29617078G>T c.e2-1 BLCA 18 29617112 29617112 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr18:29617112G>A c.198G>A c.(196-198)aaG>aaA p.K66K CESC 18 29598847 29598847 + Silent SNP C C A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 g.chr18:29598847C>A c.21C>A c.(19-21)acC>acA p.T7T CESC 18 29617087 29617087 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 g.chr18:29617087G>A c.173G>A c.(172-174)cGt>cAt p.R58H CESC 18 29617208 29617208 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr18:29617208G>C c.294G>C c.(292-294)aaG>aaC p.K98N CESC 18 29622159 29622159 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr18:29622159G>T c.336G>T c.(334-336)atG>atT p.M112I CESC 18 29645950 29645950 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 g.chr18:29645950C>G c.590C>G c.(589-591)aCt>aGt p.T197S CESC 18 29648335 29648335 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr18:29648335G>A c.687G>A c.(685-687)tcG>tcA p.S229S COAD 18 29598984 29598984 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr18:29598984G>A c.158G>A c.(157-159)gGc>gAc p.G53D COAD 18 29617087 29617087 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr18:29617087G>A c.173G>A c.(172-174)cGt>cAt p.R58H COAD 18 29617140 29617140 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr18:29617140C>T c.226C>T c.(226-228)Cgg>Tgg p.R76W COAD 18 29617157 29617159 + In_Frame_Del DEL AGA AGA - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr18:29617157_29617159delAGA c.243_245delAGA c.(241-246)tcagaa>tca p.E82del COAD 18 29648292 29648292 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:29648292G>A c.644G>A c.(643-645)cGa>cAa p.R215Q COADREAD 18 29598984 29598984 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr18:29598984G>A c.158G>A c.(157-159)gGc>gAc p.G53D COADREAD 18 29617087 29617087 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr18:29617087G>A c.173G>A c.(172-174)cGt>cAt p.R58H COADREAD 18 29617140 29617140 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr18:29617140C>T c.226C>T c.(226-228)Cgg>Tgg p.R76W COADREAD 18 29617157 29617159 + In_Frame_Del DEL AGA AGA - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr18:29617157_29617159delAGA c.243_245delAGA c.(241-246)tcagaa>tca p.E82del COADREAD 18 29648292 29648292 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:29648292G>A c.644G>A c.(643-645)cGa>cAa p.R215Q GBMLGG 18 29645962 29645962 + Missense_Mutation SNP A A C TCGA-S9-A89V-01A-11D-A36O-08 TCGA-S9-A89V-10A-01D-A367-08 g.chr18:29645962A>C c.602A>C c.(601-603)gAt>gCt p.D201A GBMLGG 18 29648291 29648291 + Nonsense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr18:29648291C>T c.643C>T c.(643-645)Cga>Tga p.R215* LGG 18 29645962 29645962 + Missense_Mutation SNP A A C TCGA-S9-A89V-01A-11D-A36O-08 TCGA-S9-A89V-10A-01D-A367-08 g.chr18:29645962A>C c.602A>C c.(601-603)gAt>gCt p.D201A LGG 18 29648291 29648291 + Nonsense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr18:29648291C>T c.643C>T c.(643-645)Cga>Tga p.R215* LUAD 18 29648259 29648259 + Splice_Site SNP A A T TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr18:29648259A>T c.e6-1 LUAD 18 29648260 29648260 + Splice_Site SNP G G T TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr18:29648260G>T c.e6-1 LUAD 18 29648277 29648277 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr18:29648277A>C c.629A>C c.(628-630)gAg>gCg p.E210A LUSC 18 29617122 29617122 + Missense_Mutation SNP T T C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr18:29617122T>C c.208T>C c.(208-210)Tgg>Cgg p.W70R LUSC 18 29648306 29648306 + Missense_Mutation SNP C C T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr18:29648306C>T c.658C>T c.(658-660)Cgg>Tgg p.R220W PAAD 18 29622203 29622203 + Missense_Mutation SNP G G C TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr18:29622203G>C c.380G>C c.(379-381)gGa>gCa p.G127A SARC 18 29648272 29648272 + Silent SNP A A T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 g.chr18:29648272A>T c.624A>T c.(622-624)atA>atT p.I208I SARC 18 29648343 29648343 + Missense_Mutation SNP C C A TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 g.chr18:29648343C>A c.695C>A c.(694-696)aCa>aAa p.T232K SKCM 18 29617132 29617132 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr18:29617132C>T c.218C>T c.(217-219)cCt>cTt p.P73L SKCM 18 29625679 29625679 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr18:29625679C>T c.488C>T c.(487-489)tCg>tTg p.S163L SKCM 18 29645969 29645969 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:29645969C>T c.609C>T c.(607-609)ttC>ttT p.F203F

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 18 29625636 29625636 single base substitution T C exon_variant BLCA-CN 18 29625636 29625636 single base substitution T C missense_variant Y149H 445T>C BLCA-US 18 29617078 29617078 single base substitution G T splice_acceptor_variant BLCA-US 18 29617078 29617078 single base substitution G T upstream_gene_variant BLCA-US 18 29617112 29617112 single base substitution G A synonymous_variant K66K 198G>A BLCA-US 18 29617112 29617112 single base substitution G A upstream_gene_variant BOCA-FR 18 29653565 29653565 single base substitution A T downstream_gene_variant BRCA-EU 18 29595503 29595503 single base substitution C G upstream_gene_variant BRCA-EU 18 29596314 29596314 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 29597144 29597144 single base substitution C A upstream_gene_variant BRCA-EU 18 29597294 29597294 single base substitution C T upstream_gene_variant BRCA-EU 18 29597911 29597911 single base substitution G A upstream_gene_variant BRCA-EU 18 29598458 29598458 single base substitution G A 5_prime_UTR_variant BRCA-EU 18 29598552 29598552 single base substitution C G 5_prime_UTR_variant BRCA-EU 18 29599258 29599258 single base substitution G T intron_variant BRCA-EU 18 29600885 29600885 insertion of <=200bp - A intron_variant BRCA-EU 18 29601950 29601950 single base substitution C G intron_variant BRCA-EU 18 29603232 29603232 single base substitution C T intron_variant BRCA-EU 18 29603300 29603300 single base substitution G C intron_variant BRCA-EU 18 29603452 29603452 single base substitution G C intron_variant BRCA-EU 18 29603660 29603660 single base substitution T C intron_variant BRCA-EU 18 29605777 29605777 single base substitution C T intron_variant BRCA-EU 18 29607163 29607163 single base substitution C A intron_variant BRCA-EU 18 29607894 29607894 deletion of <=200bp A - intron_variant BRCA-EU 18 29609356 29609356 single base substitution G A intron_variant BRCA-EU 18 29609764 29609764 single base substitution G C intron_variant BRCA-EU 18 29610057 29610057 single base substitution G A intron_variant BRCA-EU 18 29612974 29612974 single base substitution G A intron_variant BRCA-EU 18 29612974 29612974 single base substitution G A upstream_gene_variant BRCA-EU 18 29613133 29613133 single base substitution A C intron_variant BRCA-EU 18 29613133 29613133 single base substitution A C upstream_gene_variant BRCA-EU 18 29615839 29615839 single base substitution G T intron_variant BRCA-EU 18 29615839 29615839 single base substitution G T upstream_gene_variant BRCA-EU 18 29616090 29616090 single base substitution C A intron_variant BRCA-EU 18 29616090 29616090 single base substitution C A upstream_gene_variant BRCA-EU 18 29618562 29618562 single base substitution C G intron_variant BRCA-EU 18 29618562 29618562 single base substitution C G upstream_gene_variant BRCA-EU 18 29619944 29619944 single base substitution G T intron_variant BRCA-EU 18 29619944 29619944 single base substitution G T upstream_gene_variant BRCA-EU 18 29621368 29621368 single base substitution G A intron_variant BRCA-EU 18 29621368 29621368 single base substitution G A upstream_gene_variant BRCA-EU 18 29621873 29621873 single base substitution G A exon_variant BRCA-EU 18 29621873 29621873 single base substitution G A intron_variant BRCA-EU 18 29621873 29621873 single base substitution G A upstream_gene_variant BRCA-EU 18 29622106 29622106 single base substitution T A exon_variant BRCA-EU 18 29622106 29622106 single base substitution T A intron_variant BRCA-EU 18 29622846 29622846 single base substitution T G intron_variant BRCA-EU 18 29624997 29624997 single base substitution T C intron_variant BRCA-EU 18 29626326 29626326 single base substitution G A intron_variant BRCA-EU 18 29627008 29627008 single base substitution G A intron_variant BRCA-EU 18 29628389 29628389 single base substitution C G intron_variant BRCA-EU 18 29629030 29629030 single base substitution C T intron_variant BRCA-EU 18 29629247 29629247 single base substitution G T intron_variant BRCA-EU 18 29630807 29630869 deletion of <=200bp CTAGTCTCTCGGTCTAGAGTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGAGA - intron_variant BRCA-EU 18 29633217 29633217 single base substitution C T intron_variant BRCA-EU 18 29634323 29634323 single base substitution C T intron_variant BRCA-EU 18 29634538 29634538 single base substitution G A intron_variant BRCA-EU 18 29634885 29634885 single base substitution G T intron_variant BRCA-EU 18 29635520 29635520 single base substitution C T intron_variant BRCA-EU 18 29636122 29636122 single base substitution T C intron_variant BRCA-EU 18 29636137 29636137 single base substitution A T intron_variant BRCA-EU 18 29636675 29636675 single base substitution A T intron_variant BRCA-EU 18 29636715 29636715 single base substitution C G intron_variant BRCA-EU 18 29637209 29637209 single base substitution A G intron_variant BRCA-EU 18 29637487 29637487 single base substitution G A intron_variant BRCA-EU 18 29640604 29640604 single base substitution G A intron_variant BRCA-EU 18 29641217 29641217 single base substitution G A intron_variant BRCA-EU 18 29642276 29642276 single base substitution C T intron_variant BRCA-EU 18 29642638 29642638 single base substitution G C intron_variant BRCA-EU 18 29643261 29643261 single base substitution G T intron_variant BRCA-EU 18 29643893 29643893 single base substitution G A intron_variant BRCA-EU 18 29646965 29646965 single base substitution C T downstream_gene_variant BRCA-EU 18 29646965 29646965 single base substitution C T intron_variant BRCA-EU 18 29647562 29647562 single base substitution G A downstream_gene_variant BRCA-EU 18 29647562 29647562 single base substitution G A intron_variant BRCA-EU 18 29648259 29648259 single base substitution A G downstream_gene_variant BRCA-EU 18 29648259 29648259 single base substitution A G splice_acceptor_variant BRCA-EU 18 29648330 29648330 single base substitution C T downstream_gene_variant BRCA-EU 18 29648330 29648330 single base substitution C T exon_variant BRCA-EU 18 29648330 29648330 single base substitution C T missense_variant H228Y 682C>T BRCA-EU 18 29648756 29648756 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 29648756 29648756 single base substitution G A downstream_gene_variant BRCA-EU 18 29649025 29649025 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 29649025 29649025 single base substitution G A downstream_gene_variant BRCA-EU 18 29649383 29649383 single base substitution T C 3_prime_UTR_variant BRCA-EU 18 29649383 29649383 single base substitution T C downstream_gene_variant BRCA-EU 18 29649428 29649428 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 18 29649428 29649428 deletion of <=200bp T - downstream_gene_variant BRCA-EU 18 29649497 29649497 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 29649497 29649497 single base substitution G C downstream_gene_variant BRCA-EU 18 29652559 29652559 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 29652559 29652559 single base substitution G C downstream_gene_variant BRCA-EU 18 29653556 29653556 single base substitution C G downstream_gene_variant BRCA-EU 18 29655330 29655330 single base substitution G T downstream_gene_variant BRCA-EU 18 29655370 29655370 single base substitution A G downstream_gene_variant BRCA-EU 18 29656501 29656501 single base substitution T C downstream_gene_variant BRCA-EU 18 29658004 29658004 single base substitution C T downstream_gene_variant BRCA-EU 18 29658141 29658141 single base substitution T C downstream_gene_variant BRCA-FR 18 29595503 29595503 single base substitution C G upstream_gene_variant BRCA-FR 18 29597294 29597294 single base substitution C T upstream_gene_variant BRCA-FR 18 29604439 29604439 single base substitution G C intron_variant BRCA-FR 18 29605777 29605777 single base substitution C T intron_variant BRCA-FR 18 29617801 29617801 single base substitution G A intron_variant BRCA-FR 18 29617801 29617801 single base substitution G A upstream_gene_variant BRCA-FR 18 29623955 29623955 single base substitution G T intron_variant BRCA-FR 18 29626326 29626326 single base substitution G A intron_variant BRCA-FR 18 29636715 29636715 single base substitution C G intron_variant BRCA-FR 18 29640604 29640604 single base substitution G A intron_variant BRCA-FR 18 29641217 29641217 single base substitution G A intron_variant BRCA-FR 18 29658004 29658004 single base substitution C T downstream_gene_variant BRCA-UK 18 29643546 29643546 single base substitution G C intron_variant BRCA-UK 18 29646931 29646931 single base substitution C G downstream_gene_variant BRCA-UK 18 29646931 29646931 single base substitution C G intron_variant BTCA-JP 18 29617282 29617282 single base substitution C T intron_variant BTCA-JP 18 29617282 29617282 single base substitution C T upstream_gene_variant BTCA-JP 18 29625513 29625513 single base substitution G T intron_variant CESC-US 18 29598847 29598847 single base substitution C A synonymous_variant T7T 21C>A CESC-US 18 29617087 29617087 single base substitution G A missense_variant R58H 173G>A CESC-US 18 29617087 29617087 single base substitution G A upstream_gene_variant CESC-US 18 29617208 29617208 single base substitution G C exon_variant CESC-US 18 29617208 29617208 single base substitution G C missense_variant K98N 294G>C CESC-US 18 29617208 29617208 single base substitution G C upstream_gene_variant CESC-US 18 29622159 29622159 single base substitution G T exon_variant CESC-US 18 29622159 29622159 single base substitution G T intron_variant CESC-US 18 29622159 29622159 single base substitution G T missense_variant M112I 336G>T CESC-US 18 29645950 29645950 single base substitution C G 3_prime_UTR_variant CESC-US 18 29645950 29645950 single base substitution C G exon_variant CESC-US 18 29645950 29645950 single base substitution C G intron_variant CESC-US 18 29645950 29645950 single base substitution C G missense_variant T197S 590C>G CESC-US 18 29648335 29648335 single base substitution G A downstream_gene_variant CESC-US 18 29648335 29648335 single base substitution G A exon_variant CESC-US 18 29648335 29648335 single base substitution G A synonymous_variant S229S 687G>A CLLE-ES 18 29598103 29598103 single base substitution C T upstream_gene_variant CLLE-ES 18 29633395 29633395 single base substitution A G intron_variant CLLE-ES 18 29649745 29649745 single base substitution T G 3_prime_UTR_variant CLLE-ES 18 29649745 29649745 single base substitution T G downstream_gene_variant COAD-US 18 29598847 29598847 single base substitution C T synonymous_variant T7T 21C>T COAD-US 18 29598984 29598984 single base substitution G A missense_variant G53D 158G>A COAD-US 18 29617087 29617087 single base substitution G A missense_variant R58H 173G>A COAD-US 18 29617087 29617087 single base substitution G A upstream_gene_variant COAD-US 18 29617140 29617140 single base substitution C T missense_variant R76W 226C>T COAD-US 18 29617140 29617140 single base substitution C T upstream_gene_variant COAD-US 18 29617157 29617159 deletion of <=200bp AGA - exon_variant COAD-US 18 29617157 29617159 deletion of <=200bp AGA - inframe_deletion SE81S COAD-US 18 29617157 29617159 deletion of <=200bp AGA - upstream_gene_variant COAD-US 18 29648292 29648292 single base substitution G A downstream_gene_variant COAD-US 18 29648292 29648292 single base substitution G A exon_variant COAD-US 18 29648292 29648292 single base substitution G A missense_variant R215Q 644G>A COCA-CN 18 29602793 29602793 single base substitution G A intron_variant COCA-CN 18 29622214 29622214 single base substitution G T exon_variant COCA-CN 18 29622214 29622214 single base substitution G T intron_variant COCA-CN 18 29622214 29622214 single base substitution G T stop_gained E131* 391G>T COCA-CN 18 29625536 29625536 single base substitution G A intron_variant COCA-CN 18 29625537 29625537 single base substitution A G intron_variant COCA-CN 18 29638215 29638215 single base substitution A G intron_variant COCA-CN 18 29648291 29648291 single base substitution C T downstream_gene_variant COCA-CN 18 29648291 29648291 single base substitution C T exon_variant COCA-CN 18 29648291 29648291 single base substitution C T stop_gained R215* 643C>T EOPC-DE 18 29638982 29638982 single base substitution T C intron_variant ESAD-UK 18 29595625 29595625 single base substitution G A upstream_gene_variant ESAD-UK 18 29597489 29597489 single base substitution G T upstream_gene_variant ESAD-UK 18 29600157 29600157 single base substitution C T intron_variant ESAD-UK 18 29601646 29601646 single base substitution G A intron_variant ESAD-UK 18 29604100 29604100 single base substitution C G intron_variant ESAD-UK 18 29604617 29604617 single base substitution C G intron_variant ESAD-UK 18 29605033 29605033 single base substitution A C intron_variant ESAD-UK 18 29607979 29607979 single base substitution C T intron_variant ESAD-UK 18 29608693 29608693 single base substitution T C intron_variant ESAD-UK 18 29609637 29609637 single base substitution G T intron_variant ESAD-UK 18 29611873 29611873 single base substitution T G intron_variant ESAD-UK 18 29612052 29612052 single base substitution T C intron_variant ESAD-UK 18 29612150 29612150 single base substitution C T intron_variant ESAD-UK 18 29612150 29612150 single base substitution C T upstream_gene_variant ESAD-UK 18 29613989 29613989 single base substitution G C intron_variant ESAD-UK 18 29613989 29613989 single base substitution G C upstream_gene_variant ESAD-UK 18 29614501 29614501 single base substitution A T intron_variant ESAD-UK 18 29614501 29614501 single base substitution A T upstream_gene_variant ESAD-UK 18 29618387 29618387 single base substitution A G intron_variant ESAD-UK 18 29618387 29618387 single base substitution A G upstream_gene_variant ESAD-UK 18 29621040 29621040 single base substitution G C intron_variant ESAD-UK 18 29621040 29621040 single base substitution G C upstream_gene_variant ESAD-UK 18 29624706 29624706 single base substitution G C intron_variant ESAD-UK 18 29631493 29631493 single base substitution G A intron_variant ESAD-UK 18 29634607 29634607 single base substitution C G intron_variant ESAD-UK 18 29634632 29634632 single base substitution A G intron_variant ESAD-UK 18 29635719 29635719 single base substitution G A intron_variant ESAD-UK 18 29637608 29637608 deletion of <=200bp T - intron_variant ESAD-UK 18 29637705 29637705 single base substitution G A intron_variant ESAD-UK 18 29638645 29638645 single base substitution T C intron_variant ESAD-UK 18 29639523 29639523 single base substitution C T intron_variant ESAD-UK 18 29640304 29640304 single base substitution C T intron_variant ESAD-UK 18 29642483 29642483 single base substitution G A intron_variant ESAD-UK 18 29648657 29648657 single base substitution C A 3_prime_UTR_variant ESAD-UK 18 29648657 29648657 single base substitution C A downstream_gene_variant ESAD-UK 18 29650283 29650283 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 29650283 29650283 single base substitution G A downstream_gene_variant ESAD-UK 18 29650528 29650528 single base substitution G C 3_prime_UTR_variant ESAD-UK 18 29650528 29650528 single base substitution G C downstream_gene_variant ESAD-UK 18 29651536 29651536 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 29651536 29651536 single base substitution G A downstream_gene_variant ESAD-UK 18 29652922 29652922 single base substitution C G 3_prime_UTR_variant ESAD-UK 18 29652922 29652922 single base substitution C G downstream_gene_variant ESAD-UK 18 29655021 29655021 single base substitution C T downstream_gene_variant ESAD-UK 18 29656267 29656267 deletion of <=200bp T - downstream_gene_variant ESAD-UK 18 29657081 29657081 single base substitution A T downstream_gene_variant ESCA-CN 18 29646038 29646038 single base substitution C T 3_prime_UTR_variant ESCA-CN 18 29646038 29646038 single base substitution C T intron_variant LAML-KR 18 29597399 29597399 single base substitution C T upstream_gene_variant LGG-US 18 29648291 29648291 single base substitution C T downstream_gene_variant LGG-US 18 29648291 29648291 single base substitution C T exon_variant LGG-US 18 29648291 29648291 single base substitution C T stop_gained R215* 643C>T LICA-FR 18 29607191 29607191 deletion of <=200bp T - intron_variant LICA-FR 18 29620224 29620224 single base substitution A G intron_variant LICA-FR 18 29620224 29620224 single base substitution A G upstream_gene_variant LICA-FR 18 29650146 29650149 deletion of <=200bp GGTG - 3_prime_UTR_variant LICA-FR 18 29650146 29650149 deletion of <=200bp GGTG - downstream_gene_variant LINC-JP 18 29593867 29593867 single base substitution G A upstream_gene_variant LINC-JP 18 29599377 29599377 single base substitution G C intron_variant LINC-JP 18 29603725 29603725 single base substitution C A intron_variant LINC-JP 18 29603989 29603989 single base substitution A T intron_variant LINC-JP 18 29604155 29604155 deletion of <=200bp C - intron_variant LINC-JP 18 29628435 29628435 single base substitution G A intron_variant LINC-JP 18 29636286 29636286 single base substitution A G intron_variant LINC-JP 18 29636287 29636287 single base substitution A T intron_variant LINC-JP 18 29637786 29637786 single base substitution T C intron_variant LINC-JP 18 29650206 29650206 single base substitution G A 3_prime_UTR_variant LINC-JP 18 29650206 29650206 single base substitution G A downstream_gene_variant LIRI-JP 18 29593766 29593766 single base substitution G T upstream_gene_variant LIRI-JP 18 29594269 29594269 single base substitution G A upstream_gene_variant LIRI-JP 18 29595565 29595565 single base substitution C T upstream_gene_variant LIRI-JP 18 29598736 29598736 single base substitution G A 5_prime_UTR_variant LIRI-JP 18 29601814 29601814 single base substitution C A intron_variant LIRI-JP 18 29602067 29602067 single base substitution A G intron_variant LIRI-JP 18 29603010 29603010 single base substitution A G intron_variant LIRI-JP 18 29609186 29609186 single base substitution T C intron_variant LIRI-JP 18 29611667 29611667 single base substitution T C intron_variant LIRI-JP 18 29614354 29614354 single base substitution G T intron_variant LIRI-JP 18 29614354 29614354 single base substitution G T upstream_gene_variant LIRI-JP 18 29615416 29615416 single base substitution T C intron_variant LIRI-JP 18 29615416 29615416 single base substitution T C upstream_gene_variant LIRI-JP 18 29615628 29615628 single base substitution G A intron_variant LIRI-JP 18 29615628 29615628 single base substitution G A upstream_gene_variant LIRI-JP 18 29615634 29615634 single base substitution A G intron_variant LIRI-JP 18 29615634 29615634 single base substitution A G upstream_gene_variant LIRI-JP 18 29615668 29615668 single base substitution C G intron_variant LIRI-JP 18 29615668 29615668 single base substitution C G upstream_gene_variant LIRI-JP 18 29617475 29617475 single base substitution A G intron_variant LIRI-JP 18 29617475 29617475 single base substitution A G upstream_gene_variant LIRI-JP 18 29618815 29618815 single base substitution A G intron_variant LIRI-JP 18 29618815 29618815 single base substitution A G upstream_gene_variant LIRI-JP 18 29620538 29620538 single base substitution A G intron_variant LIRI-JP 18 29620538 29620538 single base substitution A G upstream_gene_variant LIRI-JP 18 29620667 29620667 single base substitution C G intron_variant LIRI-JP 18 29620667 29620667 single base substitution C G upstream_gene_variant LIRI-JP 18 29620860 29620860 single base substitution C G intron_variant LIRI-JP 18 29620860 29620860 single base substitution C G upstream_gene_variant LIRI-JP 18 29621130 29621130 single base substitution G A intron_variant LIRI-JP 18 29621130 29621130 single base substitution G A upstream_gene_variant LIRI-JP 18 29625637 29625637 single base substitution A G exon_variant LIRI-JP 18 29625637 29625637 single base substitution A G missense_variant Y149C 446A>G LIRI-JP 18 29629120 29629120 single base substitution C T intron_variant LIRI-JP 18 29631914 29631914 single base substitution G C intron_variant LIRI-JP 18 29634960 29634960 single base substitution T G intron_variant LIRI-JP 18 29637695 29637695 single base substitution A T intron_variant LIRI-JP 18 29638385 29638385 single base substitution T C intron_variant LIRI-JP 18 29639991 29639991 single base substitution C T intron_variant LIRI-JP 18 29641345 29641345 single base substitution G A intron_variant LIRI-JP 18 29641503 29641503 single base substitution G T intron_variant LIRI-JP 18 29643883 29643883 single base substitution G A intron_variant LIRI-JP 18 29648386 29648386 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 29648386 29648386 single base substitution A G downstream_gene_variant LIRI-JP 18 29648386 29648386 single base substitution A G exon_variant LIRI-JP 18 29654751 29654751 single base substitution C G downstream_gene_variant LIRI-JP 18 29655160 29655160 single base substitution C T downstream_gene_variant LUSC-KR 18 29593980 29593980 single base substitution A C upstream_gene_variant LUSC-KR 18 29598573 29598573 single base substitution G A 5_prime_UTR_variant LUSC-KR 18 29598847 29598847 single base substitution C T synonymous_variant T7T 21C>T LUSC-KR 18 29604418 29604418 single base substitution T C intron_variant LUSC-KR 18 29606324 29606324 single base substitution G C intron_variant LUSC-KR 18 29608865 29608865 single base substitution C T intron_variant LUSC-KR 18 29609238 29609238 single base substitution A G intron_variant LUSC-KR 18 29610152 29610152 single base substitution G A intron_variant LUSC-KR 18 29610697 29610697 single base substitution T A intron_variant LUSC-KR 18 29613235 29613235 single base substitution G C intron_variant LUSC-KR 18 29613235 29613235 single base substitution G C upstream_gene_variant LUSC-KR 18 29617255 29617255 single base substitution T G intron_variant LUSC-KR 18 29617255 29617255 single base substitution T G upstream_gene_variant LUSC-KR 18 29623492 29623492 single base substitution C G intron_variant LUSC-KR 18 29623752 29623752 single base substitution T C intron_variant LUSC-KR 18 29624522 29624522 single base substitution G C intron_variant LUSC-KR 18 29634074 29634074 single base substitution G T intron_variant LUSC-KR 18 29636016 29636016 single base substitution G C intron_variant LUSC-KR 18 29637479 29637479 single base substitution G A intron_variant LUSC-KR 18 29644645 29644645 single base substitution C G intron_variant LUSC-KR 18 29644743 29644743 single base substitution C T intron_variant LUSC-KR 18 29648829 29648829 single base substitution G C 3_prime_UTR_variant LUSC-KR 18 29648829 29648829 single base substitution G C downstream_gene_variant LUSC-KR 18 29650697 29650697 single base substitution C A 3_prime_UTR_variant LUSC-KR 18 29650697 29650697 single base substitution C A downstream_gene_variant LUSC-KR 18 29651739 29651739 single base substitution C T 3_prime_UTR_variant LUSC-KR 18 29651739 29651739 single base substitution C T downstream_gene_variant LUSC-KR 18 29652105 29652105 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 29652105 29652105 single base substitution A T downstream_gene_variant LUSC-KR 18 29652264 29652264 single base substitution G T 3_prime_UTR_variant LUSC-KR 18 29652264 29652264 single base substitution G T downstream_gene_variant LUSC-KR 18 29652827 29652827 single base substitution T C 3_prime_UTR_variant LUSC-KR 18 29652827 29652827 single base substitution T C downstream_gene_variant LUSC-KR 18 29652986 29652986 single base substitution C G 3_prime_UTR_variant LUSC-KR 18 29652986 29652986 single base substitution C G downstream_gene_variant LUSC-KR 18 29654238 29654238 single base substitution C T downstream_gene_variant LUSC-KR 18 29655773 29655773 single base substitution C G downstream_gene_variant LUSC-US 18 29617122 29617122 single base substitution T C missense_variant W70R 208T>C LUSC-US 18 29617122 29617122 single base substitution T C upstream_gene_variant LUSC-US 18 29648306 29648306 single base substitution C T downstream_gene_variant LUSC-US 18 29648306 29648306 single base substitution C T exon_variant LUSC-US 18 29648306 29648306 single base substitution C T missense_variant R220W 658C>T MALY-DE 18 29602943 29602946 deletion of <=200bp TTAT - intron_variant MALY-DE 18 29605707 29605708 deletion of <=200bp GT - intron_variant MALY-DE 18 29606079 29606079 single base substitution G T intron_variant MALY-DE 18 29611272 29611272 single base substitution G A intron_variant MALY-DE 18 29611502 29611502 single base substitution C A intron_variant MALY-DE 18 29615439 29615439 single base substitution A C intron_variant MALY-DE 18 29615439 29615439 single base substitution A C upstream_gene_variant MALY-DE 18 29616976 29616976 single base substitution G T intron_variant MALY-DE 18 29616976 29616976 single base substitution G T upstream_gene_variant MALY-DE 18 29628410 29628410 single base substitution C A intron_variant MALY-DE 18 29632398 29632398 single base substitution G A intron_variant MALY-DE 18 29639490 29639490 single base substitution T G intron_variant MALY-DE 18 29649000 29649000 single base substitution C A 3_prime_UTR_variant MALY-DE 18 29649000 29649000 single base substitution C A downstream_gene_variant MALY-DE 18 29657574 29657574 deletion of <=200bp T - downstream_gene_variant MELA-AU 18 29593460 29593460 single base substitution C T upstream_gene_variant MELA-AU 18 29593477 29593477 single base substitution C T upstream_gene_variant MELA-AU 18 29593624 29593624 single base substitution G A upstream_gene_variant MELA-AU 18 29593655 29593655 single base substitution C T upstream_gene_variant MELA-AU 18 29593754 29593754 single base substitution G A upstream_gene_variant MELA-AU 18 29593963 29593963 single base substitution G A upstream_gene_variant MELA-AU 18 29594377 29594377 single base substitution G A upstream_gene_variant MELA-AU 18 29594422 29594422 single base substitution G A upstream_gene_variant MELA-AU 18 29594861 29594861 single base substitution G A upstream_gene_variant MELA-AU 18 29595124 29595124 single base substitution C T upstream_gene_variant MELA-AU 18 29595318 29595318 single base substitution G A upstream_gene_variant MELA-AU 18 29595328 29595328 single base substitution G A upstream_gene_variant MELA-AU 18 29595383 29595383 single base substitution G A upstream_gene_variant MELA-AU 18 29595859 29595859 single base substitution G A upstream_gene_variant MELA-AU 18 29596791 29596791 single base substitution C T upstream_gene_variant MELA-AU 18 29597582 29597582 single base substitution C T upstream_gene_variant MELA-AU 18 29597962 29597962 single base substitution T G upstream_gene_variant MELA-AU 18 29597992 29597992 single base substitution C T upstream_gene_variant MELA-AU 18 29598370 29598371 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 18 29598431 29598431 single base substitution C T 5_prime_UTR_variant MELA-AU 18 29599184 29599184 single base substitution A G intron_variant MELA-AU 18 29599832 29599832 single base substitution C T intron_variant MELA-AU 18 29602976 29602976 single base substitution C T intron_variant MELA-AU 18 29603034 29603034 single base substitution C T intron_variant MELA-AU 18 29603116 29603116 single base substitution C T intron_variant MELA-AU 18 29603184 29603184 single base substitution C T intron_variant MELA-AU 18 29605172 29605172 single base substitution C T intron_variant MELA-AU 18 29605297 29605297 single base substitution C A intron_variant MELA-AU 18 29606334 29606334 single base substitution C T intron_variant MELA-AU 18 29606496 29606496 single base substitution C T intron_variant MELA-AU 18 29606566 29606566 single base substitution C T intron_variant MELA-AU 18 29606603 29606603 single base substitution C T intron_variant MELA-AU 18 29607014 29607014 single base substitution C T intron_variant MELA-AU 18 29607221 29607221 single base substitution C T intron_variant MELA-AU 18 29607586 29607586 single base substitution C T intron_variant MELA-AU 18 29607688 29607688 single base substitution C T intron_variant MELA-AU 18 29608184 29608184 single base substitution T G intron_variant MELA-AU 18 29608248 29608248 single base substitution G A intron_variant MELA-AU 18 29608970 29608970 single base substitution C T intron_variant MELA-AU 18 29609106 29609106 single base substitution C T intron_variant MELA-AU 18 29610116 29610116 single base substitution C T intron_variant MELA-AU 18 29610666 29610666 single base substitution G A intron_variant MELA-AU 18 29610966 29610967 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 29611818 29611818 single base substitution T C intron_variant MELA-AU 18 29612504 29612504 single base substitution C T intron_variant MELA-AU 18 29612504 29612504 single base substitution C T upstream_gene_variant MELA-AU 18 29612590 29612590 single base substitution C T intron_variant MELA-AU 18 29612590 29612590 single base substitution C T upstream_gene_variant MELA-AU 18 29612854 29612854 single base substitution C T intron_variant MELA-AU 18 29612854 29612854 single base substitution C T upstream_gene_variant MELA-AU 18 29612958 29612958 single base substitution G A intron_variant MELA-AU 18 29612958 29612958 single base substitution G A upstream_gene_variant MELA-AU 18 29613025 29613025 single base substitution G A intron_variant MELA-AU 18 29613025 29613025 single base substitution G A upstream_gene_variant MELA-AU 18 29613155 29613155 single base substitution G A intron_variant MELA-AU 18 29613155 29613155 single base substitution G A upstream_gene_variant MELA-AU 18 29613882 29613882 single base substitution C T intron_variant MELA-AU 18 29613882 29613882 single base substitution C T upstream_gene_variant MELA-AU 18 29614140 29614140 single base substitution C T intron_variant MELA-AU 18 29614140 29614140 single base substitution C T upstream_gene_variant MELA-AU 18 29614965 29614966 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 29614965 29614966 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 29615970 29615970 single base substitution G A intron_variant MELA-AU 18 29615970 29615970 single base substitution G A upstream_gene_variant MELA-AU 18 29617085 29617085 single base substitution C T synonymous_variant C57C 171C>T MELA-AU 18 29617085 29617085 single base substitution C T upstream_gene_variant MELA-AU 18 29617132 29617132 single base substitution C T missense_variant P73L 218C>T MELA-AU 18 29617132 29617132 single base substitution C T upstream_gene_variant MELA-AU 18 29617490 29617490 single base substitution C T intron_variant MELA-AU 18 29617490 29617490 single base substitution C T upstream_gene_variant MELA-AU 18 29617767 29617767 single base substitution G A intron_variant MELA-AU 18 29617767 29617767 single base substitution G A upstream_gene_variant MELA-AU 18 29617943 29617943 single base substitution G A intron_variant MELA-AU 18 29617943 29617943 single base substitution G A upstream_gene_variant MELA-AU 18 29618752 29618752 single base substitution A G intron_variant MELA-AU 18 29618752 29618752 single base substitution A G upstream_gene_variant MELA-AU 18 29618959 29618959 single base substitution C T intron_variant MELA-AU 18 29618959 29618959 single base substitution C T upstream_gene_variant MELA-AU 18 29619137 29619137 single base substitution G A intron_variant MELA-AU 18 29619137 29619137 single base substitution G A upstream_gene_variant MELA-AU 18 29620070 29620070 single base substitution C T intron_variant MELA-AU 18 29620070 29620070 single base substitution C T upstream_gene_variant MELA-AU 18 29622909 29622909 single base substitution C T intron_variant MELA-AU 18 29623826 29623826 single base substitution G A intron_variant MELA-AU 18 29623893 29623893 single base substitution C T intron_variant MELA-AU 18 29624532 29624532 single base substitution T G intron_variant MELA-AU 18 29624711 29624711 single base substitution G A intron_variant MELA-AU 18 29625436 29625436 single base substitution C T intron_variant MELA-AU 18 29626562 29626562 single base substitution A T intron_variant MELA-AU 18 29626834 29626834 single base substitution C T intron_variant MELA-AU 18 29627388 29627388 single base substitution C T intron_variant MELA-AU 18 29627389 29627389 single base substitution C T intron_variant MELA-AU 18 29628355 29628355 single base substitution C T intron_variant MELA-AU 18 29628704 29628704 single base substitution G A intron_variant MELA-AU 18 29629620 29629620 single base substitution G A intron_variant MELA-AU 18 29629876 29629876 single base substitution C T intron_variant MELA-AU 18 29630496 29630496 single base substitution C T intron_variant MELA-AU 18 29631026 29631026 single base substitution C T intron_variant MELA-AU 18 29631765 29631765 single base substitution C T intron_variant MELA-AU 18 29632038 29632038 single base substitution T C intron_variant MELA-AU 18 29632719 29632719 single base substitution C T intron_variant MELA-AU 18 29633575 29633575 single base substitution C T intron_variant MELA-AU 18 29633924 29633924 single base substitution C T intron_variant MELA-AU 18 29634252 29634252 single base substitution C T intron_variant MELA-AU 18 29634464 29634464 single base substitution C T intron_variant MELA-AU 18 29635177 29635177 single base substitution C T intron_variant MELA-AU 18 29635779 29635779 single base substitution C T intron_variant MELA-AU 18 29635834 29635834 single base substitution C T intron_variant MELA-AU 18 29637774 29637774 single base substitution C T intron_variant MELA-AU 18 29637813 29637813 single base substitution C T intron_variant MELA-AU 18 29638282 29638282 single base substitution C T intron_variant MELA-AU 18 29638316 29638316 single base substitution C T intron_variant MELA-AU 18 29638851 29638851 single base substitution C T intron_variant MELA-AU 18 29639574 29639574 single base substitution A G intron_variant MELA-AU 18 29639653 29639653 single base substitution C T intron_variant MELA-AU 18 29640648 29640648 single base substitution C T intron_variant MELA-AU 18 29640712 29640712 single base substitution G A intron_variant MELA-AU 18 29641061 29641061 single base substitution C T intron_variant MELA-AU 18 29642083 29642083 single base substitution G A intron_variant MELA-AU 18 29642482 29642482 single base substitution A G intron_variant MELA-AU 18 29642546 29642546 single base substitution A G intron_variant MELA-AU 18 29643116 29643116 single base substitution G A intron_variant MELA-AU 18 29643184 29643184 single base substitution C T intron_variant MELA-AU 18 29643998 29643998 single base substitution T G intron_variant MELA-AU 18 29644374 29644374 single base substitution T G intron_variant MELA-AU 18 29645124 29645124 single base substitution G A intron_variant MELA-AU 18 29645434 29645434 single base substitution C T intron_variant MELA-AU 18 29645512 29645512 single base substitution T A intron_variant MELA-AU 18 29646937 29646937 single base substitution C T downstream_gene_variant MELA-AU 18 29646937 29646937 single base substitution C T intron_variant MELA-AU 18 29646987 29646988 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 29646987 29646988 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 29647514 29647514 single base substitution T A downstream_gene_variant MELA-AU 18 29647514 29647514 single base substitution T A intron_variant MELA-AU 18 29647516 29647516 single base substitution C T downstream_gene_variant MELA-AU 18 29647516 29647516 single base substitution C T intron_variant MELA-AU 18 29647813 29647813 single base substitution C T downstream_gene_variant MELA-AU 18 29647813 29647813 single base substitution C T intron_variant MELA-AU 18 29647982 29647982 single base substitution G A downstream_gene_variant MELA-AU 18 29647982 29647982 single base substitution G A intron_variant MELA-AU 18 29648250 29648250 single base substitution C T downstream_gene_variant MELA-AU 18 29648250 29648250 single base substitution C T intron_variant MELA-AU 18 29648330 29648330 single base substitution C T downstream_gene_variant MELA-AU 18 29648330 29648330 single base substitution C T exon_variant MELA-AU 18 29648330 29648330 single base substitution C T missense_variant H228Y 682C>T MELA-AU 18 29649054 29649054 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29649054 29649054 single base substitution C T downstream_gene_variant MELA-AU 18 29649761 29649761 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29649761 29649761 single base substitution C T downstream_gene_variant MELA-AU 18 29650072 29650072 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29650072 29650072 single base substitution C T downstream_gene_variant MELA-AU 18 29650287 29650287 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29650287 29650287 single base substitution C T downstream_gene_variant MELA-AU 18 29650654 29650654 single base substitution T G 3_prime_UTR_variant MELA-AU 18 29650654 29650654 single base substitution T G downstream_gene_variant MELA-AU 18 29650750 29650750 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29650750 29650750 single base substitution C T downstream_gene_variant MELA-AU 18 29650791 29650791 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29650791 29650791 single base substitution C T downstream_gene_variant MELA-AU 18 29650908 29650908 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29650908 29650908 single base substitution C T downstream_gene_variant MELA-AU 18 29651188 29651188 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29651188 29651188 single base substitution C T downstream_gene_variant MELA-AU 18 29651548 29651548 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29651548 29651548 single base substitution C T downstream_gene_variant MELA-AU 18 29653723 29653723 single base substitution C T downstream_gene_variant MELA-AU 18 29653903 29653903 single base substitution C T downstream_gene_variant MELA-AU 18 29654274 29654274 single base substitution A T downstream_gene_variant MELA-AU 18 29654386 29654386 single base substitution G A downstream_gene_variant MELA-AU 18 29654487 29654487 single base substitution C T downstream_gene_variant MELA-AU 18 29654986 29654986 single base substitution C T downstream_gene_variant MELA-AU 18 29655404 29655404 single base substitution C T downstream_gene_variant MELA-AU 18 29655405 29655405 single base substitution C T downstream_gene_variant MELA-AU 18 29655871 29655871 single base substitution C T downstream_gene_variant MELA-AU 18 29656388 29656388 single base substitution C T downstream_gene_variant MELA-AU 18 29656468 29656468 single base substitution G A downstream_gene_variant MELA-AU 18 29656928 29656928 single base substitution C T downstream_gene_variant MELA-AU 18 29656983 29656983 single base substitution G A downstream_gene_variant MELA-AU 18 29656991 29656991 single base substitution C T downstream_gene_variant ORCA-IN 18 29612109 29612109 single base substitution G A intron_variant ORCA-IN 18 29614862 29614862 single base substitution T A intron_variant ORCA-IN 18 29614862 29614862 single base substitution T A upstream_gene_variant ORCA-IN 18 29617586 29617586 single base substitution C T intron_variant ORCA-IN 18 29617586 29617586 single base substitution C T upstream_gene_variant OV-AU 18 29593500 29593500 single base substitution T C upstream_gene_variant OV-AU 18 29596419 29596419 single base substitution C T upstream_gene_variant OV-AU 18 29597117 29597117 single base substitution G A upstream_gene_variant OV-AU 18 29598169 29598169 single base substitution G A upstream_gene_variant OV-AU 18 29618097 29618097 single base substitution C T intron_variant OV-AU 18 29618097 29618097 single base substitution C T upstream_gene_variant OV-AU 18 29626775 29626775 single base substitution G C intron_variant OV-AU 18 29634159 29634159 single base substitution C T intron_variant OV-AU 18 29637954 29637954 single base substitution G T intron_variant OV-AU 18 29641971 29641971 single base substitution A G intron_variant OV-AU 18 29643980 29643980 single base substitution C A intron_variant OV-AU 18 29648657 29648657 single base substitution C G 3_prime_UTR_variant OV-AU 18 29648657 29648657 single base substitution C G downstream_gene_variant OV-AU 18 29655984 29655984 single base substitution A G downstream_gene_variant OV-AU 18 29656122 29656122 single base substitution T A downstream_gene_variant PACA-AU 18 29594772 29594772 single base substitution G A upstream_gene_variant PACA-AU 18 29597770 29597770 single base substitution T A upstream_gene_variant PACA-AU 18 29608592 29608592 single base substitution G T intron_variant PACA-AU 18 29612497 29612497 deletion of <=200bp T - intron_variant PACA-AU 18 29612497 29612497 deletion of <=200bp T - upstream_gene_variant PACA-AU 18 29617416 29617416 single base substitution C A intron_variant PACA-AU 18 29617416 29617416 single base substitution C A upstream_gene_variant PACA-AU 18 29619282 29619282 single base substitution C T intron_variant PACA-AU 18 29619282 29619282 single base substitution C T upstream_gene_variant PACA-AU 18 29631754 29631754 single base substitution G C intron_variant PACA-AU 18 29643625 29643625 single base substitution G A intron_variant PACA-AU 18 29643674 29643674 single base substitution G A intron_variant PACA-AU 18 29643875 29643875 single base substitution G A intron_variant PACA-AU 18 29644539 29644539 single base substitution G A intron_variant PACA-AU 18 29644670 29644670 single base substitution G C intron_variant PACA-AU 18 29646671 29646671 single base substitution A G downstream_gene_variant PACA-AU 18 29646671 29646671 single base substitution A G intron_variant PACA-AU 18 29646746 29646746 single base substitution T A downstream_gene_variant PACA-AU 18 29646746 29646746 single base substitution T A intron_variant PACA-AU 18 29651761 29651761 single base substitution G T 3_prime_UTR_variant PACA-AU 18 29651761 29651761 single base substitution G T downstream_gene_variant PACA-AU 18 29654473 29654473 single base substitution C G downstream_gene_variant PACA-AU 18 29654546 29654546 single base substitution C T downstream_gene_variant PACA-AU 18 29657159 29657159 single base substitution C A downstream_gene_variant PACA-CA 18 29597265 29597265 single base substitution G C upstream_gene_variant PACA-CA 18 29601567 29601567 single base substitution G C intron_variant PACA-CA 18 29607308 29607308 single base substitution G T intron_variant PACA-CA 18 29609254 29609254 single base substitution G T intron_variant PACA-CA 18 29612497 29612497 deletion of <=200bp T - intron_variant PACA-CA 18 29612497 29612497 deletion of <=200bp T - upstream_gene_variant PACA-CA 18 29616132 29616132 single base substitution A G intron_variant PACA-CA 18 29616132 29616132 single base substitution A G upstream_gene_variant PACA-CA 18 29617780 29617780 single base substitution C T intron_variant PACA-CA 18 29617780 29617780 single base substitution C T upstream_gene_variant PACA-CA 18 29619441 29619441 insertion of <=200bp - AT intron_variant PACA-CA 18 29619441 29619441 insertion of <=200bp - AT upstream_gene_variant PACA-CA 18 29623121 29623121 single base substitution A G intron_variant PACA-CA 18 29625535 29625535 single base substitution A G intron_variant PACA-CA 18 29625536 29625536 single base substitution G A intron_variant PACA-CA 18 29627252 29627252 single base substitution C T intron_variant PACA-CA 18 29628408 29628408 deletion of <=200bp C - intron_variant PACA-CA 18 29629910 29629910 single base substitution G T intron_variant PACA-CA 18 29629911 29629911 single base substitution G T intron_variant PACA-CA 18 29632975 29632975 single base substitution A C intron_variant PACA-CA 18 29635980 29635980 insertion of <=200bp - A intron_variant PACA-CA 18 29643307 29643307 single base substitution G C intron_variant PACA-CA 18 29646148 29646148 single base substitution C T downstream_gene_variant PACA-CA 18 29646148 29646148 single base substitution C T intron_variant PACA-CA 18 29649768 29649768 single base substitution T A 3_prime_UTR_variant PACA-CA 18 29649768 29649768 single base substitution T A downstream_gene_variant PACA-CA 18 29651205 29651205 single base substitution C G 3_prime_UTR_variant PACA-CA 18 29651205 29651205 single base substitution C G downstream_gene_variant PACA-CA 18 29653849 29653849 single base substitution A T downstream_gene_variant PACA-CA 18 29656198 29656198 single base substitution C A downstream_gene_variant PAEN-AU 18 29600831 29600831 single base substitution C G intron_variant PAEN-AU 18 29601788 29601788 single base substitution C G intron_variant PAEN-AU 18 29603176 29603176 single base substitution C T intron_variant PAEN-AU 18 29607003 29607003 single base substitution G T intron_variant PAEN-AU 18 29607745 29607745 single base substitution A G intron_variant PAEN-AU 18 29624078 29624078 single base substitution T A intron_variant PAEN-AU 18 29639104 29639104 single base substitution G T intron_variant PBCA-DE 18 29597073 29597073 single base substitution A T upstream_gene_variant PBCA-DE 18 29599555 29599555 single base substitution C G intron_variant PBCA-DE 18 29601136 29601136 single base substitution C T intron_variant PBCA-DE 18 29601371 29601371 single base substitution C A intron_variant PBCA-DE 18 29605707 29605708 deletion of <=200bp GT - intron_variant PBCA-DE 18 29606835 29606835 single base substitution C A intron_variant PBCA-DE 18 29610454 29610454 single base substitution A T intron_variant PBCA-DE 18 29611502 29611502 single base substitution C A intron_variant PBCA-DE 18 29628054 29628054 single base substitution T C intron_variant PBCA-DE 18 29633867 29633867 deletion of <=200bp G - intron_variant PBCA-DE 18 29642592 29642592 single base substitution A G intron_variant PBCA-DE 18 29643893 29643893 single base substitution G A intron_variant PBCA-DE 18 29647603 29647603 single base substitution A G downstream_gene_variant PBCA-DE 18 29647603 29647603 single base substitution A G intron_variant PBCA-DE 18 29654466 29654466 single base substitution A C downstream_gene_variant PBCA-DE 18 29657576 29657576 single base substitution G A downstream_gene_variant PRAD-CA 18 29599981 29599981 single base substitution G T intron_variant PRAD-CA 18 29599997 29599997 single base substitution T G intron_variant PRAD-CA 18 29607709 29607709 single base substitution G A intron_variant PRAD-CA 18 29629170 29629170 single base substitution G A intron_variant PRAD-CA 18 29631303 29631303 single base substitution G T intron_variant PRAD-UK 18 29597190 29597190 single base substitution G T upstream_gene_variant PRAD-UK 18 29599855 29599855 single base substitution C G intron_variant PRAD-UK 18 29600087 29600087 single base substitution T A intron_variant PRAD-UK 18 29603379 29603379 single base substitution G C intron_variant PRAD-UK 18 29611889 29611889 single base substitution G A intron_variant PRAD-UK 18 29628047 29628047 single base substitution G A intron_variant PRAD-UK 18 29642180 29642180 single base substitution A G intron_variant PRAD-UK 18 29647054 29647054 single base substitution A C downstream_gene_variant PRAD-UK 18 29647054 29647054 single base substitution A C intron_variant PRAD-UK 18 29650517 29650517 single base substitution C T 3_prime_UTR_variant PRAD-UK 18 29650517 29650517 single base substitution C T downstream_gene_variant PRAD-UK 18 29652773 29652773 single base substitution T A 3_prime_UTR_variant PRAD-UK 18 29652773 29652773 single base substitution T A downstream_gene_variant RECA-EU 18 29600433 29600433 single base substitution T A intron_variant RECA-EU 18 29601980 29601980 single base substitution A T intron_variant RECA-EU 18 29609676 29609676 single base substitution C T intron_variant RECA-EU 18 29610460 29610460 single base substitution C T intron_variant RECA-EU 18 29614041 29614041 single base substitution A T intron_variant RECA-EU 18 29614041 29614041 single base substitution A T upstream_gene_variant RECA-EU 18 29626199 29626199 single base substitution A G intron_variant RECA-EU 18 29642760 29642760 single base substitution A C intron_variant SKCA-BR 18 29595845 29595845 single base substitution G A upstream_gene_variant SKCA-BR 18 29595983 29595983 single base substitution G A upstream_gene_variant SKCA-BR 18 29597026 29597026 single base substitution G A upstream_gene_variant SKCA-BR 18 29597027 29597027 single base substitution G A upstream_gene_variant SKCA-BR 18 29599214 29599214 single base substitution C T intron_variant SKCA-BR 18 29599712 29599712 single base substitution A C intron_variant SKCA-BR 18 29599965 29599981 deletion of <=200bp CTGTGTGTGTGTGTGTG - intron_variant SKCA-BR 18 29606305 29606305 single base substitution G C intron_variant SKCA-BR 18 29608522 29608522 single base substitution A T intron_variant SKCA-BR 18 29616207 29616207 single base substitution T C intron_variant SKCA-BR 18 29616207 29616207 single base substitution T C upstream_gene_variant SKCA-BR 18 29617860 29617860 single base substitution A G intron_variant SKCA-BR 18 29617860 29617860 single base substitution A G upstream_gene_variant SKCA-BR 18 29619210 29619210 single base substitution T A intron_variant SKCA-BR 18 29619210 29619210 single base substitution T A upstream_gene_variant SKCA-BR 18 29622737 29622737 single base substitution C T intron_variant SKCA-BR 18 29626177 29626179 deletion of <=200bp CAA - intron_variant SKCA-BR 18 29626199 29626199 insertion of <=200bp - AG intron_variant SKCA-BR 18 29626262 29626262 single base substitution A G intron_variant SKCA-BR 18 29626559 29626559 insertion of <=200bp - CA intron_variant SKCA-BR 18 29627718 29627718 single base substitution T G intron_variant SKCA-BR 18 29630827 29630827 insertion of <=200bp - GC intron_variant SKCA-BR 18 29630829 29630829 single base substitution T C intron_variant SKCA-BR 18 29638313 29638315 deletion of <=200bp ACT - intron_variant SKCA-BR 18 29640269 29640269 single base substitution C T intron_variant SKCA-BR 18 29643055 29643055 single base substitution C T intron_variant SKCA-BR 18 29644359 29644359 single base substitution C T intron_variant SKCA-BR 18 29657315 29657315 insertion of <=200bp - TA downstream_gene_variant SKCM-US 18 29617132 29617132 single base substitution C T missense_variant P73L 218C>T SKCM-US 18 29617132 29617132 single base substitution C T upstream_gene_variant SKCM-US 18 29625679 29625679 single base substitution C T 3_prime_UTR_variant SKCM-US 18 29625679 29625679 single base substitution C T exon_variant SKCM-US 18 29625679 29625679 single base substitution C T missense_variant S163L 488C>T SKCM-US 18 29645969 29645969 single base substitution C T 3_prime_UTR_variant SKCM-US 18 29645969 29645969 single base substitution C T exon_variant SKCM-US 18 29645969 29645969 single base substitution C T intron_variant SKCM-US 18 29645969 29645969 single base substitution C T synonymous_variant F203F 609C>T STAD-US 18 29617122 29617122 single base substitution T C missense_variant W70R 208T>C STAD-US 18 29617122 29617122 single base substitution T C upstream_gene_variant STAD-US 18 29617149 29617149 single base substitution C G exon_variant STAD-US 18 29617149 29617149 single base substitution C G missense_variant L79V 235C>G STAD-US 18 29617149 29617149 single base substitution C G upstream_gene_variant STAD-US 18 29645945 29645945 single base substitution T C 3_prime_UTR_variant STAD-US 18 29645945 29645945 single base substitution T C exon_variant STAD-US 18 29645945 29645945 single base substitution T C intron_variant STAD-US 18 29645945 29645945 single base substitution T C synonymous_variant S195S 585T>C THCA-SA 18 29652129 29652129 single base substitution C A 3_prime_UTR_variant THCA-SA 18 29652129 29652129 single base substitution C A downstream_gene_variant UCEC-US 18 29598948 29598948 single base substitution T C missense_variant L41P 122T>C UCEC-US 18 29617189 29617189 single base substitution G T exon_variant UCEC-US 18 29617189 29617189 single base substitution G T missense_variant R92I 275G>T UCEC-US 18 29617189 29617189 single base substitution G T upstream_gene_variant UCEC-US 18 29617215 29617215 single base substitution G A exon_variant UCEC-US 18 29617215 29617215 single base substitution G A missense_variant A101T 301G>A UCEC-US 18 29617215 29617215 single base substitution G A upstream_gene_variant UCEC-US 18 29617224 29617224 single base substitution G A exon_variant UCEC-US 18 29617224 29617224 single base substitution G A missense_variant D104N 310G>A UCEC-US 18 29617224 29617224 single base substitution G A upstream_gene_variant UCEC-US 18 29622192 29622192 single base substitution A G exon_variant UCEC-US 18 29622192 29622192 single base substitution A G intron_variant UCEC-US 18 29622192 29622192 single base substitution A G missense_variant I123M 369A>G UCEC-US 18 29622214 29622214 single base substitution G T exon_variant UCEC-US 18 29622214 29622214 single base substitution G T intron_variant UCEC-US 18 29622214 29622214 single base substitution G T stop_gained E131* 391G>T UCEC-US 18 29622236 29622236 single base substitution G T intron_variant UCEC-US 18 29622236 29622236 single base substitution G T missense_variant R138M 413G>T UCEC-US 18 29622236 29622236 single base substitution G T splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK190_C01 COSM3742603 c.446A>G p.Y149C Substitution - Missense 18:32045674-32045674 + LOVO COSM2809776 c.675T>C p.Y225Y Substitution - coding silent 18:32068360-32068360 + TCGA-FW-A3R5-06 COSM3890933 c.609C>T p.F203F Substitution - coding silent 18:32066006-32066006 + TCGA-AU-6004-01 COSM1388419 c.226C>T p.R76W Substitution - Missense 18:32037177-32037177 + B66 COSM1750499 c.445T>C p.Y149H Substitution - Missense 18:32045673-32045673 + TCGA-18-3419-01 COSM708063 c.658C>T p.R220W Substitution - Missense 18:32068343-32068343 + YUOTHO COSM5388010 c.511C>T p.P171S Substitution - Missense 18:32065908-32065908 + B66-Tumor COSM1750499 c.445T>C p.Y149H Substitution - Missense 18:32045673-32045673 + 46M COSM5588818 c.39G>A p.A13A Substitution - coding silent 18:32018902-32018902 + PD4874a COSM5787807 c.682C>T p.H228Y Substitution - Missense 18:32068367-32068367 + TCGA-EE-A2MT-06 COSM3525301 c.488C>T p.S163L Substitution - Missense 18:32045716-32045716 + TCGA-AP-A051-01 COSM987711 c.413G>T p.R138M Substitution - Missense 18:32042273-32042273 + CSB1 COSM5028423 c.151C>T p.R51C Substitution - Missense 18:32019014-32019014 + TCGA-BS-A0UA-01 COSM987710 c.391G>T p.E131* Substitution - Nonsense 18:32042251-32042251 + TCGA-B5-A0JV-01 COSM987710 c.391G>T p.E131* Substitution - Nonsense 18:32042251-32042251 + TCGA-AP-A056-01 COSM987709 c.369A>G p.I123M Substitution - Missense 18:32042229-32042229 + Gp2D COSM4627587 c.214T>A p.C72S Substitution - Missense 18:32037165-32037165 + TCGA-DS-A7WF-01 COSM4821679 c.21C>A p.T7T Substitution - coding silent 18:32018884-32018884 + YULAN COSM1711177 c.437G>A p.R146K Substitution - Missense 18:32045665-32045665 + TCGA-R2-A69V-01 COSM4851135 c.590C>G p.T197S Substitution - Missense 18:32065987-32065987 + TCGA-BS-A0UF-01 COSM987704 c.122T>C p.L41P Substitution - Missense 18:32018985-32018985 + CSCC-45-T COSM4536328 c.228G>A p.R76R Substitution - coding silent 18:32037179-32037179 + C086 COSM5538284 c.238C>T p.P80S Substitution - Missense 18:32037189-32037189 + TCGA-BR-8059-01 COSM4071828 c.235C>G p.L79V Substitution - Missense 18:32037186-32037186 + TCGA-BR-6452-01 COSM708064 c.208T>C p.W70R Substitution - Missense 18:32037159-32037159 + SJRHB036A COSM3737863 c.662C>T p.S221L Substitution - Missense 18:32068347-32068347 + TCGA-EK-A3GK-01 COSM4853589 c.336G>T p.M112I Substitution - Missense 18:32042196-32042196 + 2734_T COSM3959113 c.464A>G p.D155G Substitution - Missense 18:32045692-32045692 + TCGA-AZ-4315-01 COSM1388421 c.644G>A p.R215Q Substitution - Missense 18:32068329-32068329 + TCGA-D1-A16F-01 COSM987708 c.310G>A p.D104N Substitution - Missense 18:32037261-32037261 + TCGA-AM-5820-01 COSM3756125 c.21C>T p.T7T Substitution - coding silent 18:32018884-32018884 + sysucc-783T COSM2809775 c.643C>T p.R215* Substitution - Nonsense 18:32068328-32068328 + 13280 COSM5614545 c.318+1G>C p.? Unknown 18:32037270-32037270 + HN_63048 COSM125890 c.224G>T p.C75F Substitution - Missense 18:32037175-32037175 + TCGA-HT-8564-01 COSM2809775 c.643C>T p.R215* Substitution - Nonsense 18:32068328-32068328 + sysucc-311T COSM987710 c.391G>T p.E131* Substitution - Nonsense 18:32042251-32042251 + S01297 COSM5667509 c.299G>A p.C100Y Substitution - Missense 18:32037250-32037250 + TCGA-F4-6570-01 COSM1388420 c.243_245delAGA p.E82delE Deletion - In frame 18:32037194-32037196 + TCGA-BS-A0UF-01 COSM987706 c.275G>T p.R92I Substitution - Missense 18:32037226-32037226 + I2L-P19Ta-Tumor-Organoid COSM5364571 c.532G>A p.D178N Substitution - Missense 18:32065929-32065929 + TCGA-DK-A1AC-01 COSM1303684 c.198G>A p.K66K Substitution - coding silent 18:32037149-32037149 + PD13755a COSM5777093 c.613-2A>G p.? Unknown 18:32068296-32068296 + TCGA-CM-5861-01 COSM1388416 c.158G>A p.G53D Substitution - Missense 18:32019021-32019021 + PTC-10C COSM4130954 c.570A>C p.R190S Substitution - Missense 18:32065967-32065967 + TCGA-DK-A1AF-01 COSM1303683 c.165-1G>T p.? Unknown 18:32037115-32037115 + TCGA-EE-A2ML-06 COSM3525300 c.218C>T p.P73L Substitution - Missense 18:32037169-32037169 + TCGA-BR-6452-01 COSM4071829 c.585T>C p.S195S Substitution - coding silent 18:32065982-32065982 + TCGA-C5-A7CJ-01 COSM2809777 c.687G>A p.S229S Substitution - coding silent 18:32068372-32068372 + TCGA-18-3410-01 COSM708064 c.208T>C p.W70R Substitution - Missense 18:32037159-32037159 + TARGET-30-PASFGG COSM1287650 c.159C>A p.G53G Substitution - coding silent 18:32019022-32019022 + SWE-2B COSM1178246 c.433C>A p.Q145K Substitution - Missense 18:32045661-32045661 + TCGA-AP-A056-01 COSM987707 c.301G>A p.A101T Substitution - Missense 18:32037252-32037252 + TCGA-AP-A0LM-01 COSM987710 c.391G>T p.E131* Substitution - Nonsense 18:32042251-32042251 + TCGA-G4-6628-01 COSM1388418 c.173G>A p.R58H Substitution - Missense 18:32037124-32037124 + PT37 COSM2809775 c.643C>T p.R215* Substitution - Nonsense 18:32068328-32068328 + TCGA-IR-A3LH-01 COSM4832327 c.294G>C p.K98N Substitution - Missense 18:32037245-32037245 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.633658;Hs.633659;Hs.633666;Hs.633667;Hs.633669;Hs.633671;Hs.633672;Hs.633676;Hs.633677;Hs.633681;Hs.633684;Hs.633687;Hs.633688;Hs.633694;Hs.633695;Hs.633701;Hs.633703 18q12.1 610432

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T 3-UTRSNV . c.696+2A>T 18 29648346 LUAD C A Synonymous p.G53G c.159C>A 18 29598985 NB C T Missense p.P73L c.218C>T 18 29617132 CM C T Missense p.R220W c.658C>T 18 29648306 LUSC C T Missense p.R51C c.151C>T 18 29598977 BRCA C T Missense p.S163L c.488C>T 18 29625679 CM C T Synonymous p.F203F c.609C>T 18 29645969 CM G A Missense p.D104N c.310G>A 18 29617224 UCEC G A Missense p.R174H c.521G>A 18 29645881 BRCA G C SpliceDonorSNV . c.318+1G>C 18 29617233 NSCLC G T Missense p.C75F c.224G>T 18 29617138 HNSC G T SpliceAcceptorSNV . c.165-1G>T 18 29617078 BLCA T C Missense p.W70R c.208T>C 18 29617122 LUSC