iUUCD 2.0 - integrated annotations for ubiquitin and ubiquitin-like conjugation database

Mutation - TCGA
Type	Chromosome	Start Position	End Position	Strand	Variant Classification	Variant Type	Reference Allele	Tumor_seq Allele 1	Tumor_seq Allele 2	Tumor Sample Barcode	Matched Norm Sample Barcode	Genome Change	cDNA Change	Codon Change	Protein Change
BLCA	20	48699389	48699389	+	Silent	SNP	G	G	A	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08	g.chr20:48699389G>A	c.360C>T	c.(358-360)gtC>gtT	p.V120V
BRCA	20	48699337	48699337	+	Nonsense_Mutation	SNP	G	G	A	TCGA-E2-A152-01A-11D-A12B-09	TCGA-E2-A152-10A-01D-A12B-09	g.chr20:48699337G>A	c.412C>T	c.(412-414)Cag>Tag	p.Q138*
BRCA	20	48700722	48700722	+	Missense_Mutation	SNP	A	A	C	TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	g.chr20:48700722A>C	c.241T>G	c.(241-243)Ttt>Gtt	p.F81V
COAD	20	48699330	48699330	+	Missense_Mutation	SNP	G	G	A	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:48699330G>A	c.419C>T	c.(418-420)cCc>cTc	p.P140L
COAD	20	48699348	48699348	+	Missense_Mutation	SNP	A	A	G	TCGA-AA-3492-01A-01D-1408-10	TCGA-AA-3492-11A-01D-1408-10	g.chr20:48699348A>G	c.401T>C	c.(400-402)aTg>aCg	p.M134T
COAD	20	48713259	48713259	+	Missense_Mutation	SNP	C	C	T	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:48713259C>T	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K
COADREAD	20	48699330	48699330	+	Missense_Mutation	SNP	G	G	A	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:48699330G>A	c.419C>T	c.(418-420)cCc>cTc	p.P140L
COADREAD	20	48699348	48699348	+	Missense_Mutation	SNP	A	A	G	TCGA-AA-3492-01A-01D-1408-10	TCGA-AA-3492-11A-01D-1408-10	g.chr20:48699348A>G	c.401T>C	c.(400-402)aTg>aCg	p.M134T
COADREAD	20	48700676	48700676	+	Missense_Mutation	SNP	G	G	T	TCGA-AG-A002-01A-01W-A00K-09	TCGA-AG-A002-10A-01W-A00K-09	g.chr20:48700676G>T	c.287C>A	c.(286-288)tCt>tAt	p.S96Y
COADREAD	20	48713259	48713259	+	Missense_Mutation	SNP	C	C	T	TCGA-AA-A010-01A-01W-A00E-09	TCGA-AA-A010-10A-01W-A00E-09	g.chr20:48713259C>T	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K
GBMLGG	20	48699376	48699376	+	Missense_Mutation	SNP	G	G	A	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08	g.chr20:48699376G>A	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W
GBMLGG	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08	g.chr20:48699408G>A	c.341C>T	c.(340-342)tCa>tTa	p.S114L
GBMLGG	20	48700714	48700714	+	Silent	SNP	T	T	C	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08	g.chr20:48700714T>C	c.249A>G	c.(247-249)agA>agG	p.R83R
LGG	20	48699376	48699376	+	Missense_Mutation	SNP	G	G	A	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08	g.chr20:48699376G>A	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W
LGG	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08	g.chr20:48699408G>A	c.341C>T	c.(340-342)tCa>tTa	p.S114L
LGG	20	48700714	48700714	+	Silent	SNP	T	T	C	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08	g.chr20:48700714T>C	c.249A>G	c.(247-249)agA>agG	p.R83R
PRAD	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08	g.chr20:48699408G>A	c.341C>T	c.(340-342)tCa>tTa	p.S114L
PRAD	20	48713342	48713342	+	Missense_Mutation	SNP	C	C	A	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08	g.chr20:48713342C>A	c.38G>T	c.(37-39)cGc>cTc	p.R13L
READ	20	48700676	48700676	+	Missense_Mutation	SNP	G	G	T	TCGA-AG-A002-01A-01W-A00K-09	TCGA-AG-A002-10A-01W-A00K-09	g.chr20:48700676G>T	c.287C>A	c.(286-288)tCt>tAt	p.S96Y
SKCM	20	48699376	48699376	+	Missense_Mutation	SNP	G	G	A	TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08	g.chr20:48699376G>A	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W
SKCM	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	TCGA-D3-A2JL-06A-11D-A196-08	TCGA-D3-A2JL-10A-01D-A198-08	g.chr20:48699408G>A	c.341C>T	c.(340-342)tCa>tTa	p.S114L
SKCM	20	48700666	48700666	+	Splice_Site	SNP	C	C	T	TCGA-EE-A3JH-06A-11D-A21A-08	TCGA-EE-A3JH-10A-01D-A21A-08	g.chr20:48700666C>T	c.297G>A	c.(295-297)gtG>gtA	p.V99V

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	20	48760211	48760211	single base substitution	G	C	intron_variant
BLCA-US	20	48699389	48699389	single base substitution	G	A	synonymous_variant	V343V	1029C>T
BRCA-EU	20	48693617	48693617	single base substitution	G	A	downstream_gene_variant
BRCA-EU	20	48693697	48693697	single base substitution	G	A	downstream_gene_variant
BRCA-EU	20	48694614	48694614	single base substitution	G	A	downstream_gene_variant
BRCA-EU	20	48697499	48697499	single base substitution	C	G	downstream_gene_variant
BRCA-EU	20	48698550	48698550	single base substitution	G	A	3_prime_UTR_variant
BRCA-EU	20	48698849	48698849	single base substitution	C	G	3_prime_UTR_variant
BRCA-EU	20	48699776	48699776	single base substitution	C	T	intron_variant
BRCA-EU	20	48700543	48700543	single base substitution	G	A	intron_variant
BRCA-EU	20	48700975	48700975	single base substitution	C	T	intron_variant
BRCA-EU	20	48701751	48701751	single base substitution	T	C	intron_variant
BRCA-EU	20	48702553	48702553	single base substitution	C	T	intron_variant
BRCA-EU	20	48702662	48702662	single base substitution	A	T	intron_variant
BRCA-EU	20	48702962	48702962	single base substitution	A	G	intron_variant
BRCA-EU	20	48703826	48703826	insertion of <=200bp	-	G	intron_variant
BRCA-EU	20	48704798	48704798	single base substitution	A	T	intron_variant
BRCA-EU	20	48705509	48705509	single base substitution	C	T	intron_variant
BRCA-EU	20	48705727	48705727	deletion of <=200bp	G	-	intron_variant
BRCA-EU	20	48705856	48705856	deletion of <=200bp	G	-	intron_variant
BRCA-EU	20	48706943	48706943	deletion of <=200bp	G	-	intron_variant
BRCA-EU	20	48709079	48709079	single base substitution	T	A	intron_variant
BRCA-EU	20	48709345	48709345	single base substitution	C	T	intron_variant
BRCA-EU	20	48709989	48709989	single base substitution	G	C	intron_variant
BRCA-EU	20	48710820	48710836	deletion of <=200bp	TATATAATATATAATTA	-	intron_variant
BRCA-EU	20	48711121	48711121	single base substitution	G	C	intron_variant
BRCA-EU	20	48711682	48711682	single base substitution	G	A	intron_variant
BRCA-EU	20	48713084	48713084	single base substitution	G	T	intron_variant
BRCA-EU	20	48713634	48713634	single base substitution	C	G	intron_variant
BRCA-EU	20	48715072	48715072	single base substitution	G	C	intron_variant
BRCA-EU	20	48715181	48715181	single base substitution	T	C	intron_variant
BRCA-EU	20	48716480	48716480	single base substitution	C	A	intron_variant
BRCA-EU	20	48717123	48717123	single base substitution	A	C	intron_variant
BRCA-EU	20	48717322	48717322	single base substitution	T	C	intron_variant
BRCA-EU	20	48720233	48720233	single base substitution	G	A	intron_variant
BRCA-EU	20	48721095	48721095	single base substitution	G	A	intron_variant
BRCA-EU	20	48723426	48723426	single base substitution	A	C	intron_variant
BRCA-EU	20	48725990	48725990	single base substitution	G	C	intron_variant
BRCA-EU	20	48726605	48726605	single base substitution	G	A	intron_variant
BRCA-EU	20	48727712	48727712	single base substitution	A	T	intron_variant
BRCA-EU	20	48728057	48728057	single base substitution	G	A	intron_variant
BRCA-EU	20	48728818	48728818	single base substitution	C	A	intron_variant
BRCA-EU	20	48729120	48729120	single base substitution	G	A	intron_variant
BRCA-EU	20	48731672	48731672	single base substitution	C	A	intron_variant
BRCA-EU	20	48732594	48732594	insertion of <=200bp	-	C	intron_variant
BRCA-EU	20	48733411	48733411	single base substitution	G	A	intron_variant
BRCA-EU	20	48733927	48733927	single base substitution	C	T	intron_variant
BRCA-EU	20	48733984	48733984	single base substitution	T	G	intron_variant
BRCA-EU	20	48734026	48734026	single base substitution	C	T	intron_variant
BRCA-EU	20	48735155	48735155	deletion of <=200bp	T	-	intron_variant
BRCA-EU	20	48735554	48735554	single base substitution	G	C	intron_variant
BRCA-EU	20	48736624	48736624	single base substitution	G	A	intron_variant
BRCA-EU	20	48737490	48737490	single base substitution	C	T	intron_variant
BRCA-EU	20	48738200	48738200	single base substitution	G	C	intron_variant
BRCA-EU	20	48738790	48738790	single base substitution	G	C	intron_variant
BRCA-EU	20	48739000	48739000	single base substitution	G	A	intron_variant
BRCA-EU	20	48739742	48739742	single base substitution	C	T	intron_variant
BRCA-EU	20	48740039	48740039	single base substitution	G	T	intron_variant
BRCA-EU	20	48740448	48740448	single base substitution	G	A	intron_variant
BRCA-EU	20	48740588	48740588	single base substitution	C	T	intron_variant
BRCA-EU	20	48741180	48741180	single base substitution	C	A	intron_variant
BRCA-EU	20	48741265	48741265	single base substitution	C	A	intron_variant
BRCA-EU	20	48741580	48741580	single base substitution	G	C	intron_variant
BRCA-EU	20	48741960	48741960	single base substitution	G	C	intron_variant
BRCA-EU	20	48743030	48743030	deletion of <=200bp	A	-	intron_variant
BRCA-EU	20	48744362	48744362	single base substitution	G	C	intron_variant
BRCA-EU	20	48744774	48744774	single base substitution	G	A	intron_variant
BRCA-EU	20	48748399	48748399	single base substitution	G	C	intron_variant
BRCA-EU	20	48750577	48750577	single base substitution	G	C	intron_variant
BRCA-EU	20	48753937	48753937	single base substitution	C	T	intron_variant
BRCA-EU	20	48754428	48754428	single base substitution	C	A	intron_variant
BRCA-EU	20	48754474	48754474	single base substitution	A	C	intron_variant
BRCA-EU	20	48755633	48755633	single base substitution	C	T	intron_variant
BRCA-EU	20	48755645	48755645	single base substitution	G	C	intron_variant
BRCA-EU	20	48759735	48759735	single base substitution	G	A	intron_variant
BRCA-EU	20	48760721	48760721	single base substitution	C	T	intron_variant
BRCA-EU	20	48761121	48761121	single base substitution	C	G	intron_variant
BRCA-EU	20	48761146	48761146	single base substitution	G	C	intron_variant
BRCA-EU	20	48761191	48761191	single base substitution	T	A	intron_variant
BRCA-EU	20	48761348	48761348	deletion of <=200bp	A	-	intron_variant
BRCA-EU	20	48762029	48762029	single base substitution	T	A	intron_variant
BRCA-EU	20	48762228	48762228	single base substitution	C	T	intron_variant
BRCA-EU	20	48763137	48763137	single base substitution	C	T	intron_variant
BRCA-EU	20	48765082	48765082	single base substitution	G	C	intron_variant
BRCA-EU	20	48766552	48766552	single base substitution	C	T	intron_variant
BRCA-EU	20	48768172	48768172	single base substitution	G	A	intron_variant
BRCA-EU	20	48768299	48768299	single base substitution	G	C	intron_variant
BRCA-EU	20	48768646	48768646	single base substitution	T	C	intron_variant
BRCA-EU	20	48769142	48769142	single base substitution	G	T	intron_variant
BRCA-EU	20	48769494	48769494	single base substitution	G	A	intron_variant
BRCA-EU	20	48770227	48770229	deletion of <=200bp	GCC	-	upstream_gene_variant
BRCA-EU	20	48770233	48770233	single base substitution	G	T	upstream_gene_variant
BRCA-EU	20	48770415	48770415	single base substitution	G	A	upstream_gene_variant
BRCA-EU	20	48770459	48770459	single base substitution	C	G	upstream_gene_variant
BRCA-EU	20	48770703	48770703	single base substitution	G	A	upstream_gene_variant
BRCA-EU	20	48770752	48770752	single base substitution	G	T	upstream_gene_variant
BRCA-EU	20	48771354	48771354	single base substitution	A	C	upstream_gene_variant
BRCA-EU	20	48774162	48774162	single base substitution	A	T	upstream_gene_variant
BRCA-FR	20	48728818	48728818	single base substitution	C	A	intron_variant
BRCA-FR	20	48731672	48731672	single base substitution	C	A	intron_variant
BRCA-FR	20	48737235	48737235	single base substitution	G	A	intron_variant
BRCA-FR	20	48748578	48748578	single base substitution	T	G	intron_variant
BRCA-FR	20	48754428	48754428	single base substitution	C	A	intron_variant
BRCA-FR	20	48755645	48755645	single base substitution	G	C	intron_variant
BRCA-FR	20	48759735	48759735	single base substitution	G	A	intron_variant
BRCA-FR	20	48762029	48762029	single base substitution	T	A	intron_variant
BRCA-FR	20	48769494	48769494	single base substitution	G	A	intron_variant
BRCA-UK	20	48701751	48701751	single base substitution	T	C	intron_variant
BRCA-UK	20	48702962	48702962	single base substitution	A	G	intron_variant
BRCA-UK	20	48707230	48707230	single base substitution	C	T	intron_variant
BRCA-UK	20	48721460	48721460	single base substitution	C	T	intron_variant
BRCA-UK	20	48726605	48726605	single base substitution	G	A	intron_variant
BRCA-UK	20	48728476	48728476	single base substitution	G	A	intron_variant
BRCA-UK	20	48747317	48747317	single base substitution	G	C	intron_variant
BRCA-UK	20	48754357	48754357	single base substitution	G	T	intron_variant
BRCA-UK	20	48758093	48758093	single base substitution	G	A	intron_variant
BRCA-UK	20	48758095	48758095	single base substitution	G	A	intron_variant
BRCA-US	20	48699337	48699337	single base substitution	G	A	stop_gained	Q361*	1081C>T
BRCA-US	20	48700722	48700722	single base substitution	A	C	missense_variant	F304V	910T>G
BTCA-JP	20	48700726	48700726	single base substitution	G	T	synonymous_variant	P302P	906C>A
BTCA-JP	20	48729711	48729711	single base substitution	C	T	intron_variant
BTCA-JP	20	48732154	48732154	single base substitution	G	A	intron_variant
BTCA-JP	20	48741400	48741400	deletion of <=200bp	A	-	intron_variant
BTCA-JP	20	48760250	48760250	single base substitution	T	C	intron_variant
BTCA-JP	20	48770191	48770191	single base substitution	G	C	upstream_gene_variant
CLLE-ES	20	48693249	48693249	single base substitution	C	T	downstream_gene_variant
CLLE-ES	20	48706941	48706942	multiple base substitution (>=2bp and <=200bp)	GC	AA	intron_variant
CLLE-ES	20	48768967	48768967	single base substitution	T	C	intron_variant
COAD-US	20	48741674	48741674	single base substitution	C	T	intron_variant
COAD-US	20	48744614	48744614	single base substitution	G	A	missense_variant	R197C	589C>T
COAD-US	20	48746189	48746189	single base substitution	C	T	synonymous_variant	P124P	372G>A
COCA-CN	20	48700975	48700975	single base substitution	C	T	intron_variant
COCA-CN	20	48701134	48701134	single base substitution	C	A	intron_variant
COCA-CN	20	48746110	48746110	single base substitution	C	G	missense_variant	A151P	451G>C
EOPC-DE	20	48760631	48760631	single base substitution	G	A	intron_variant
ESAD-UK	20	48693190	48693190	single base substitution	C	T	downstream_gene_variant
ESAD-UK	20	48694378	48694378	single base substitution	G	A	downstream_gene_variant
ESAD-UK	20	48696727	48696727	single base substitution	T	A	downstream_gene_variant
ESAD-UK	20	48698161	48698161	single base substitution	G	A	3_prime_UTR_variant
ESAD-UK	20	48698735	48698735	single base substitution	G	A	3_prime_UTR_variant
ESAD-UK	20	48704392	48704392	single base substitution	C	T	intron_variant
ESAD-UK	20	48705727	48705727	single base substitution	G	A	intron_variant
ESAD-UK	20	48709234	48709234	single base substitution	G	C	intron_variant
ESAD-UK	20	48710482	48710482	single base substitution	G	A	intron_variant
ESAD-UK	20	48712781	48712781	single base substitution	G	T	intron_variant
ESAD-UK	20	48714097	48714097	single base substitution	G	C	intron_variant
ESAD-UK	20	48716536	48716536	single base substitution	G	T	intron_variant
ESAD-UK	20	48716642	48716642	single base substitution	A	G	intron_variant
ESAD-UK	20	48716851	48716851	single base substitution	G	A	intron_variant
ESAD-UK	20	48717321	48717321	single base substitution	A	G	intron_variant
ESAD-UK	20	48718282	48718282	single base substitution	T	G	intron_variant
ESAD-UK	20	48718325	48718325	single base substitution	C	T	intron_variant
ESAD-UK	20	48718805	48718805	single base substitution	C	A	intron_variant
ESAD-UK	20	48719295	48719295	single base substitution	G	A	intron_variant
ESAD-UK	20	48719593	48719593	single base substitution	G	A	intron_variant
ESAD-UK	20	48719696	48719696	single base substitution	G	T	intron_variant
ESAD-UK	20	48720225	48720225	single base substitution	C	T	intron_variant
ESAD-UK	20	48723415	48723415	single base substitution	A	C	intron_variant
ESAD-UK	20	48726058	48726058	single base substitution	C	T	intron_variant
ESAD-UK	20	48726393	48726393	single base substitution	T	C	intron_variant
ESAD-UK	20	48729540	48729540	single base substitution	G	A	intron_variant
ESAD-UK	20	48731259	48731259	single base substitution	G	T	intron_variant
ESAD-UK	20	48732487	48732491	deletion of <=200bp	TAGGC	-	intron_variant
ESAD-UK	20	48735162	48735162	single base substitution	T	G	intron_variant
ESAD-UK	20	48735855	48735855	single base substitution	C	T	intron_variant
ESAD-UK	20	48736485	48736485	single base substitution	T	C	intron_variant
ESAD-UK	20	48737675	48737675	single base substitution	G	T	intron_variant
ESAD-UK	20	48737939	48737939	single base substitution	C	T	intron_variant
ESAD-UK	20	48741105	48741105	single base substitution	A	C	intron_variant
ESAD-UK	20	48742398	48742398	single base substitution	G	A	intron_variant
ESAD-UK	20	48742431	48742431	single base substitution	T	C	intron_variant
ESAD-UK	20	48744736	48744736	single base substitution	G	A	intron_variant
ESAD-UK	20	48745520	48745520	single base substitution	C	T	intron_variant
ESAD-UK	20	48746301	48746301	single base substitution	A	C	intron_variant
ESAD-UK	20	48746965	48746965	single base substitution	G	A	intron_variant
ESAD-UK	20	48752638	48752638	single base substitution	A	T	intron_variant
ESAD-UK	20	48753342	48753342	insertion of <=200bp	-	G	intron_variant
ESAD-UK	20	48755112	48755112	single base substitution	C	A	intron_variant
ESAD-UK	20	48756803	48756803	single base substitution	C	G	intron_variant
ESAD-UK	20	48757214	48757214	single base substitution	T	G	intron_variant
ESAD-UK	20	48761833	48761833	single base substitution	G	A	intron_variant
ESAD-UK	20	48769238	48769238	single base substitution	C	T	intron_variant
ESCA-CN	20	48697884	48697884	deletion of <=200bp	A	-	3_prime_UTR_variant
ESCA-CN	20	48699463	48699463	single base substitution	C	A	intron_variant
ESCA-CN	20	48729711	48729711	single base substitution	C	T	intron_variant
KIRC-US	20	48732051	48732051	single base substitution	C	G	intron_variant
KIRC-US	20	48760154	48760154	single base substitution	C	T	synonymous_variant	K42K	126G>A
KIRP-US	20	48713266	48713266	single base substitution	T	C	synonymous_variant	E261E	783A>G
LAML-KR	20	48692924	48692924	single base substitution	A	C	downstream_gene_variant
LAML-KR	20	48695528	48695528	single base substitution	T	A	downstream_gene_variant
LAML-KR	20	48771681	48771681	single base substitution	G	C	upstream_gene_variant
LAML-KR	20	48772379	48772379	single base substitution	T	G	upstream_gene_variant
LAML-KR	20	48773414	48773414	single base substitution	A	G	upstream_gene_variant
LGG-US	20	48700714	48700714	single base substitution	T	C	synonymous_variant	R306R	918A>G
LICA-CN	20	48741632	48741632	single base substitution	C	A	intron_variant
LICA-FR	20	48695061	48695061	single base substitution	C	A	downstream_gene_variant
LICA-FR	20	48702361	48702361	single base substitution	T	C	intron_variant
LICA-FR	20	48720486	48720486	single base substitution	T	C	intron_variant
LICA-FR	20	48721219	48721219	single base substitution	C	A	intron_variant
LICA-FR	20	48721236	48721236	single base substitution	A	T	intron_variant
LICA-FR	20	48726285	48726285	deletion of <=200bp	A	-	intron_variant
LICA-FR	20	48730304	48730304	insertion of <=200bp	-	ATTC	intron_variant
LICA-FR	20	48741457	48741457	single base substitution	T	G	intron_variant
LICA-FR	20	48761270	48761270	single base substitution	A	G	intron_variant
LICA-FR	20	48762435	48762435	single base substitution	C	T	intron_variant
LICA-FR	20	48770103	48770103	single base substitution	C	T	stop_gained	W24*	72G>A
LINC-JP	20	48694359	48694359	single base substitution	G	A	downstream_gene_variant
LINC-JP	20	48696767	48696767	deletion of <=200bp	T	-	downstream_gene_variant
LINC-JP	20	48710985	48710985	single base substitution	T	C	intron_variant
LINC-JP	20	48722267	48722267	single base substitution	G	C	intron_variant
LINC-JP	20	48724278	48724278	single base substitution	C	G	intron_variant
LINC-JP	20	48754629	48754629	single base substitution	T	A	intron_variant
LINC-JP	20	48755662	48755662	single base substitution	C	A	intron_variant
LINC-JP	20	48770191	48770191	single base substitution	G	C	upstream_gene_variant
LINC-JP	20	48770218	48770218	single base substitution	G	A	upstream_gene_variant
LIRI-JP	20	48693845	48693845	single base substitution	C	T	downstream_gene_variant
LIRI-JP	20	48694679	48694679	single base substitution	G	T	downstream_gene_variant
LIRI-JP	20	48696678	48696679	deletion of <=200bp	AT	-	downstream_gene_variant
LIRI-JP	20	48696820	48696820	single base substitution	T	A	downstream_gene_variant
LIRI-JP	20	48696993	48696993	single base substitution	T	C	downstream_gene_variant
LIRI-JP	20	48701073	48701073	single base substitution	T	C	intron_variant
LIRI-JP	20	48707119	48707119	single base substitution	T	C	intron_variant
LIRI-JP	20	48709580	48709580	single base substitution	A	G	intron_variant
LIRI-JP	20	48710985	48710985	single base substitution	T	C	intron_variant
LIRI-JP	20	48712556	48712556	single base substitution	G	C	intron_variant
LIRI-JP	20	48713107	48713107	single base substitution	T	A	intron_variant
LIRI-JP	20	48714408	48714408	single base substitution	T	C	intron_variant
LIRI-JP	20	48715451	48715451	single base substitution	T	C	intron_variant
LIRI-JP	20	48715978	48715978	single base substitution	C	A	intron_variant
LIRI-JP	20	48716071	48716071	single base substitution	C	T	intron_variant
LIRI-JP	20	48716072	48716072	single base substitution	C	A	intron_variant
LIRI-JP	20	48720528	48720528	single base substitution	T	C	intron_variant
LIRI-JP	20	48720799	48720799	single base substitution	T	C	intron_variant
LIRI-JP	20	48720897	48720897	single base substitution	T	C	intron_variant
LIRI-JP	20	48722856	48722856	single base substitution	C	T	intron_variant
LIRI-JP	20	48723872	48723872	single base substitution	G	A	intron_variant
LIRI-JP	20	48724198	48724198	single base substitution	T	C	intron_variant
LIRI-JP	20	48725828	48725828	single base substitution	T	A	intron_variant
LIRI-JP	20	48726145	48726145	single base substitution	G	A	intron_variant
LIRI-JP	20	48728413	48728413	single base substitution	T	G	intron_variant
LIRI-JP	20	48734701	48734701	single base substitution	G	A	intron_variant
LIRI-JP	20	48739820	48739820	single base substitution	T	C	intron_variant
LIRI-JP	20	48743313	48743313	single base substitution	G	C	intron_variant
LIRI-JP	20	48744405	48744405	single base substitution	G	A	intron_variant
LIRI-JP	20	48744977	48744977	single base substitution	C	A	intron_variant
LIRI-JP	20	48748432	48748432	single base substitution	T	C	intron_variant
LIRI-JP	20	48748716	48748716	single base substitution	G	A	intron_variant
LIRI-JP	20	48751894	48751894	single base substitution	C	T	intron_variant
LIRI-JP	20	48759132	48759132	single base substitution	C	T	intron_variant
LIRI-JP	20	48760228	48760232	deletion of <=200bp	CTTTT	-	intron_variant
LIRI-JP	20	48761083	48761083	single base substitution	A	G	intron_variant
LIRI-JP	20	48762004	48762004	single base substitution	G	C	intron_variant
LIRI-JP	20	48762043	48762043	single base substitution	C	A	intron_variant
LIRI-JP	20	48762994	48762994	single base substitution	C	T	intron_variant
LIRI-JP	20	48764387	48764387	single base substitution	C	G	intron_variant
LIRI-JP	20	48774995	48774995	single base substitution	G	T	upstream_gene_variant
LIRI-JP	20	48775009	48775009	single base substitution	A	G	upstream_gene_variant
LUSC-KR	20	48693565	48693565	single base substitution	G	T	downstream_gene_variant
LUSC-KR	20	48695941	48695941	single base substitution	G	A	downstream_gene_variant
LUSC-KR	20	48702721	48702721	single base substitution	C	T	intron_variant
LUSC-KR	20	48706975	48706975	single base substitution	C	A	intron_variant
LUSC-KR	20	48711909	48711909	single base substitution	C	T	intron_variant
LUSC-KR	20	48713434	48713434	single base substitution	T	A	intron_variant
LUSC-KR	20	48713706	48713706	single base substitution	G	C	intron_variant
LUSC-KR	20	48719154	48719154	single base substitution	C	A	intron_variant
LUSC-KR	20	48720920	48720920	single base substitution	C	T	intron_variant
LUSC-KR	20	48729711	48729711	single base substitution	C	T	intron_variant
LUSC-KR	20	48730332	48730332	single base substitution	G	A	intron_variant
LUSC-KR	20	48730692	48730692	single base substitution	G	C	intron_variant
LUSC-KR	20	48737156	48737156	single base substitution	G	C	intron_variant
LUSC-KR	20	48740195	48740195	single base substitution	C	G	intron_variant
LUSC-KR	20	48740545	48740545	single base substitution	G	A	intron_variant
LUSC-KR	20	48764742	48764742	single base substitution	C	G	intron_variant
LUSC-KR	20	48765293	48765293	single base substitution	G	A	intron_variant
LUSC-KR	20	48768124	48768124	single base substitution	C	G	intron_variant
LUSC-KR	20	48768737	48768737	single base substitution	G	A	intron_variant
LUSC-KR	20	48769708	48769708	single base substitution	T	G	intron_variant
LUSC-KR	20	48770401	48770401	single base substitution	C	A	upstream_gene_variant
LUSC-KR	20	48771957	48771957	single base substitution	G	A	upstream_gene_variant
LUSC-US	20	48746194	48746194	single base substitution	C	G	missense_variant	D123H	367G>C
MALY-DE	20	48694225	48694225	single base substitution	G	A	downstream_gene_variant
MALY-DE	20	48696201	48696201	single base substitution	A	T	downstream_gene_variant
MALY-DE	20	48697092	48697092	single base substitution	T	A	downstream_gene_variant
MALY-DE	20	48697679	48697679	insertion of <=200bp	-	T	3_prime_UTR_variant
MALY-DE	20	48711066	48711066	single base substitution	A	G	intron_variant
MALY-DE	20	48711287	48711287	single base substitution	G	A	intron_variant
MALY-DE	20	48711806	48711808	deletion of <=200bp	GAA	-	intron_variant
MALY-DE	20	48719632	48719632	single base substitution	T	G	intron_variant
MALY-DE	20	48733900	48733900	single base substitution	G	T	intron_variant
MALY-DE	20	48762105	48762105	single base substitution	G	A	intron_variant
MALY-DE	20	48771629	48771629	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48694801	48694801	single base substitution	G	A	downstream_gene_variant
MELA-AU	20	48695316	48695316	single base substitution	G	A	downstream_gene_variant
MELA-AU	20	48695737	48695737	single base substitution	G	A	downstream_gene_variant
MELA-AU	20	48695871	48695871	single base substitution	A	T	downstream_gene_variant
MELA-AU	20	48696717	48696717	single base substitution	C	A	downstream_gene_variant
MELA-AU	20	48697568	48697568	single base substitution	G	A	downstream_gene_variant
MELA-AU	20	48697812	48697812	single base substitution	A	T	3_prime_UTR_variant
MELA-AU	20	48698580	48698580	single base substitution	G	A	3_prime_UTR_variant
MELA-AU	20	48699277	48699277	single base substitution	G	A	3_prime_UTR_variant
MELA-AU	20	48699408	48699408	single base substitution	G	A	missense_variant	S337L	1010C>T
MELA-AU	20	48700361	48700361	single base substitution	G	A	intron_variant
MELA-AU	20	48701418	48701418	single base substitution	G	A	intron_variant
MELA-AU	20	48702380	48702381	deletion of <=200bp	CA	-	intron_variant
MELA-AU	20	48703165	48703165	single base substitution	C	T	intron_variant
MELA-AU	20	48703391	48703391	single base substitution	G	A	intron_variant
MELA-AU	20	48703664	48703664	single base substitution	G	A	intron_variant
MELA-AU	20	48705343	48705343	single base substitution	G	A	intron_variant
MELA-AU	20	48705696	48705696	single base substitution	G	A	intron_variant
MELA-AU	20	48705820	48705820	single base substitution	G	A	intron_variant
MELA-AU	20	48707372	48707372	single base substitution	G	A	intron_variant
MELA-AU	20	48707687	48707687	single base substitution	G	A	intron_variant
MELA-AU	20	48707863	48707863	single base substitution	G	C	intron_variant
MELA-AU	20	48708786	48708786	single base substitution	G	A	intron_variant
MELA-AU	20	48708948	48708949	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48708958	48708958	single base substitution	G	A	intron_variant
MELA-AU	20	48710451	48710451	single base substitution	G	A	intron_variant
MELA-AU	20	48710788	48710788	single base substitution	A	T	intron_variant
MELA-AU	20	48711378	48711378	single base substitution	G	A	intron_variant
MELA-AU	20	48711742	48711742	single base substitution	G	A	intron_variant
MELA-AU	20	48711866	48711866	single base substitution	G	A	intron_variant
MELA-AU	20	48712363	48712363	single base substitution	G	A	intron_variant
MELA-AU	20	48712436	48712436	single base substitution	G	A	intron_variant
MELA-AU	20	48712704	48712705	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48713204	48713204	single base substitution	C	A	splice_region_variant
MELA-AU	20	48713445	48713445	single base substitution	G	A	intron_variant
MELA-AU	20	48713809	48713809	single base substitution	G	A	intron_variant
MELA-AU	20	48714088	48714088	single base substitution	G	A	intron_variant
MELA-AU	20	48714250	48714250	insertion of <=200bp	-	A	intron_variant
MELA-AU	20	48715233	48715233	single base substitution	C	A	intron_variant
MELA-AU	20	48716331	48716331	single base substitution	G	A	intron_variant
MELA-AU	20	48716541	48716542	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48717676	48717676	single base substitution	G	A	intron_variant
MELA-AU	20	48718090	48718090	single base substitution	G	A	intron_variant
MELA-AU	20	48718465	48718465	single base substitution	G	A	intron_variant
MELA-AU	20	48718531	48718532	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48719041	48719041	single base substitution	G	A	intron_variant
MELA-AU	20	48719232	48719232	single base substitution	G	A	intron_variant
MELA-AU	20	48719814	48719814	single base substitution	C	T	intron_variant
MELA-AU	20	48720370	48720370	single base substitution	C	T	intron_variant
MELA-AU	20	48720961	48720961	single base substitution	G	A	intron_variant
MELA-AU	20	48721104	48721104	single base substitution	G	A	intron_variant
MELA-AU	20	48722511	48722511	single base substitution	G	A	intron_variant
MELA-AU	20	48722653	48722653	single base substitution	A	C	intron_variant
MELA-AU	20	48723000	48723000	single base substitution	A	G	intron_variant
MELA-AU	20	48723196	48723196	single base substitution	C	T	intron_variant
MELA-AU	20	48723517	48723517	single base substitution	G	A	intron_variant
MELA-AU	20	48723519	48723519	single base substitution	G	A	intron_variant
MELA-AU	20	48724041	48724041	single base substitution	G	A	intron_variant
MELA-AU	20	48724601	48724601	single base substitution	G	A	intron_variant
MELA-AU	20	48724827	48724827	single base substitution	G	A	intron_variant
MELA-AU	20	48725121	48725121	single base substitution	G	A	intron_variant
MELA-AU	20	48725315	48725315	single base substitution	A	C	intron_variant
MELA-AU	20	48725868	48725868	single base substitution	G	A	intron_variant
MELA-AU	20	48726165	48726165	single base substitution	G	A	intron_variant
MELA-AU	20	48728869	48728870	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48730320	48730320	single base substitution	A	G	intron_variant
MELA-AU	20	48731724	48731724	single base substitution	G	A	intron_variant
MELA-AU	20	48732474	48732474	single base substitution	C	T	intron_variant
MELA-AU	20	48732482	48732482	single base substitution	G	A	intron_variant
MELA-AU	20	48732636	48732636	single base substitution	C	T	intron_variant
MELA-AU	20	48732826	48732826	single base substitution	C	T	intron_variant
MELA-AU	20	48733220	48733220	single base substitution	G	A	intron_variant
MELA-AU	20	48733825	48733825	single base substitution	G	A	intron_variant
MELA-AU	20	48734178	48734178	single base substitution	G	A	intron_variant
MELA-AU	20	48734354	48734354	single base substitution	G	A	intron_variant
MELA-AU	20	48734680	48734680	single base substitution	G	A	intron_variant
MELA-AU	20	48735299	48735299	single base substitution	G	A	intron_variant
MELA-AU	20	48735615	48735615	single base substitution	G	A	intron_variant
MELA-AU	20	48736298	48736298	single base substitution	A	G	intron_variant
MELA-AU	20	48737190	48737191	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48737200	48737200	single base substitution	C	T	intron_variant
MELA-AU	20	48737379	48737379	single base substitution	G	A	intron_variant
MELA-AU	20	48737499	48737499	single base substitution	C	T	intron_variant
MELA-AU	20	48737838	48737838	single base substitution	C	T	intron_variant
MELA-AU	20	48738431	48738431	single base substitution	C	T	intron_variant
MELA-AU	20	48738752	48738752	single base substitution	A	G	intron_variant
MELA-AU	20	48740525	48740525	single base substitution	A	G	intron_variant
MELA-AU	20	48740692	48740692	single base substitution	G	A	intron_variant
MELA-AU	20	48740832	48740832	single base substitution	C	A	intron_variant
MELA-AU	20	48741048	48741048	single base substitution	C	T	intron_variant
MELA-AU	20	48741208	48741208	single base substitution	C	T	intron_variant
MELA-AU	20	48741364	48741364	single base substitution	G	A	intron_variant
MELA-AU	20	48741465	48741466	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48741484	48741484	single base substitution	G	A	intron_variant
MELA-AU	20	48741547	48741547	single base substitution	G	A	intron_variant
MELA-AU	20	48741554	48741554	single base substitution	G	A	intron_variant
MELA-AU	20	48741633	48741633	single base substitution	G	A	intron_variant
MELA-AU	20	48742121	48742121	single base substitution	C	T	intron_variant
MELA-AU	20	48742194	48742194	single base substitution	G	A	intron_variant
MELA-AU	20	48743153	48743154	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48743156	48743156	single base substitution	G	A	intron_variant
MELA-AU	20	48744306	48744306	single base substitution	G	A	intron_variant
MELA-AU	20	48744772	48744772	single base substitution	G	A	intron_variant
MELA-AU	20	48744802	48744802	single base substitution	T	G	intron_variant
MELA-AU	20	48744861	48744861	single base substitution	G	A	intron_variant
MELA-AU	20	48745213	48745213	single base substitution	G	A	intron_variant
MELA-AU	20	48745369	48745369	single base substitution	G	A	intron_variant
MELA-AU	20	48745782	48745782	single base substitution	G	A	intron_variant
MELA-AU	20	48745963	48745963	single base substitution	T	C	intron_variant
MELA-AU	20	48746014	48746014	single base substitution	G	A	intron_variant
MELA-AU	20	48746651	48746652	multiple base substitution (>=2bp and <=200bp)	GG	AA	intron_variant
MELA-AU	20	48746845	48746845	single base substitution	G	A	intron_variant
MELA-AU	20	48746891	48746891	single base substitution	A	C	intron_variant
MELA-AU	20	48747206	48747206	single base substitution	G	A	intron_variant
MELA-AU	20	48747593	48747594	multiple base substitution (>=2bp and <=200bp)	CC	TT	intron_variant
MELA-AU	20	48747826	48747826	single base substitution	G	A	intron_variant
MELA-AU	20	48748246	48748246	single base substitution	G	A	intron_variant
MELA-AU	20	48748448	48748448	single base substitution	G	A	intron_variant
MELA-AU	20	48748729	48748729	single base substitution	G	A	intron_variant
MELA-AU	20	48749105	48749105	single base substitution	A	G	intron_variant
MELA-AU	20	48749749	48749749	single base substitution	G	A	intron_variant
MELA-AU	20	48749908	48749908	single base substitution	G	A	intron_variant
MELA-AU	20	48750145	48750145	single base substitution	G	A	intron_variant
MELA-AU	20	48750196	48750196	single base substitution	C	A	intron_variant
MELA-AU	20	48750235	48750235	single base substitution	G	C	intron_variant
MELA-AU	20	48750433	48750433	single base substitution	G	A	intron_variant
MELA-AU	20	48751011	48751011	single base substitution	G	A	intron_variant
MELA-AU	20	48751176	48751176	single base substitution	G	A	intron_variant
MELA-AU	20	48753658	48753658	single base substitution	G	A	intron_variant
MELA-AU	20	48754118	48754118	single base substitution	C	T	intron_variant
MELA-AU	20	48754301	48754301	single base substitution	G	C	intron_variant
MELA-AU	20	48755167	48755167	single base substitution	C	T	intron_variant
MELA-AU	20	48755524	48755524	single base substitution	G	A	intron_variant
MELA-AU	20	48756433	48756433	single base substitution	G	A	intron_variant
MELA-AU	20	48757691	48757691	single base substitution	G	A	intron_variant
MELA-AU	20	48758724	48758724	single base substitution	G	A	intron_variant
MELA-AU	20	48759704	48759704	single base substitution	A	T	intron_variant
MELA-AU	20	48760225	48760225	single base substitution	G	A	intron_variant
MELA-AU	20	48760465	48760465	single base substitution	A	G	intron_variant
MELA-AU	20	48760503	48760503	single base substitution	G	A	intron_variant
MELA-AU	20	48760845	48760845	single base substitution	G	T	intron_variant
MELA-AU	20	48761055	48761055	single base substitution	G	A	intron_variant
MELA-AU	20	48764631	48764631	single base substitution	G	A	intron_variant
MELA-AU	20	48764632	48764632	single base substitution	G	A	intron_variant
MELA-AU	20	48764776	48764776	single base substitution	G	A	intron_variant
MELA-AU	20	48764993	48764993	single base substitution	C	T	intron_variant
MELA-AU	20	48765102	48765102	single base substitution	G	A	intron_variant
MELA-AU	20	48765336	48765336	single base substitution	G	A	intron_variant
MELA-AU	20	48765471	48765471	single base substitution	G	A	intron_variant
MELA-AU	20	48765673	48765673	single base substitution	G	A	intron_variant
MELA-AU	20	48766201	48766201	single base substitution	C	T	intron_variant
MELA-AU	20	48767042	48767042	single base substitution	T	C	intron_variant
MELA-AU	20	48767279	48767279	single base substitution	G	A	intron_variant
MELA-AU	20	48767763	48767763	single base substitution	G	A	intron_variant
MELA-AU	20	48768542	48768542	single base substitution	G	A	intron_variant
MELA-AU	20	48768787	48768787	single base substitution	G	A	intron_variant
MELA-AU	20	48768815	48768815	single base substitution	C	T	intron_variant
MELA-AU	20	48769617	48769617	single base substitution	G	A	intron_variant
MELA-AU	20	48770751	48770751	single base substitution	G	A	upstream_gene_variant
MELA-AU	20	48771384	48771384	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48771692	48771692	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48772060	48772060	single base substitution	G	A	upstream_gene_variant
MELA-AU	20	48772334	48772334	single base substitution	G	A	upstream_gene_variant
MELA-AU	20	48772618	48772618	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48773223	48773223	single base substitution	G	A	upstream_gene_variant
MELA-AU	20	48773508	48773508	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48773785	48773785	single base substitution	G	A	upstream_gene_variant
MELA-AU	20	48773939	48773939	single base substitution	G	A	upstream_gene_variant
MELA-AU	20	48773952	48773952	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48774088	48774088	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48774458	48774458	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48774485	48774485	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48774601	48774601	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48774748	48774748	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48774857	48774857	single base substitution	C	T	upstream_gene_variant
MELA-AU	20	48774966	48774966	single base substitution	G	A	upstream_gene_variant
ORCA-IN	20	48697175	48697175	single base substitution	C	G	downstream_gene_variant
ORCA-IN	20	48716952	48716952	single base substitution	G	A	intron_variant
ORCA-IN	20	48728267	48728267	single base substitution	G	C	intron_variant
ORCA-IN	20	48742515	48742515	single base substitution	G	C	intron_variant
ORCA-IN	20	48750182	48750182	deletion of <=200bp	C	-	intron_variant
ORCA-IN	20	48774449	48774449	single base substitution	G	C	upstream_gene_variant
OV-AU	20	48696577	48696577	single base substitution	T	A	downstream_gene_variant
OV-AU	20	48696927	48696927	single base substitution	G	C	downstream_gene_variant
OV-AU	20	48698478	48698478	single base substitution	C	T	3_prime_UTR_variant
OV-AU	20	48705159	48705159	single base substitution	C	A	intron_variant
OV-AU	20	48707381	48707381	single base substitution	G	C	intron_variant
OV-AU	20	48710177	48710177	single base substitution	C	A	intron_variant
OV-AU	20	48717774	48717774	single base substitution	T	G	intron_variant
OV-AU	20	48718496	48718496	single base substitution	C	G	intron_variant
OV-AU	20	48727855	48727855	single base substitution	G	C	intron_variant
OV-AU	20	48735187	48735187	single base substitution	C	T	intron_variant
OV-AU	20	48736225	48736225	single base substitution	G	C	intron_variant
OV-AU	20	48740972	48740972	single base substitution	C	T	intron_variant
OV-AU	20	48741088	48741088	single base substitution	G	A	intron_variant
OV-AU	20	48743370	48743370	single base substitution	T	G	intron_variant
OV-AU	20	48744372	48744372	single base substitution	A	C	intron_variant
OV-AU	20	48748101	48748101	single base substitution	G	T	intron_variant
OV-AU	20	48748316	48748316	single base substitution	C	T	intron_variant
OV-AU	20	48754217	48754217	single base substitution	G	A	intron_variant
OV-AU	20	48754357	48754357	single base substitution	G	C	intron_variant
OV-AU	20	48754849	48754849	single base substitution	G	A	intron_variant
OV-AU	20	48755991	48755991	single base substitution	A	T	intron_variant
OV-AU	20	48759011	48759011	single base substitution	G	A	intron_variant
OV-AU	20	48762083	48762083	single base substitution	C	T	intron_variant
OV-AU	20	48764922	48764922	single base substitution	C	T	intron_variant
OV-AU	20	48766205	48766205	single base substitution	A	G	intron_variant
OV-AU	20	48772635	48772635	single base substitution	T	G	upstream_gene_variant
PACA-AU	20	48695021	48695024	deletion of <=200bp	AGAG	-	downstream_gene_variant
PACA-AU	20	48701356	48701356	single base substitution	T	A	intron_variant
PACA-AU	20	48704257	48704257	single base substitution	C	T	intron_variant
PACA-AU	20	48705452	48705452	single base substitution	G	C	intron_variant
PACA-AU	20	48710254	48710254	single base substitution	C	T	intron_variant
PACA-AU	20	48715782	48715782	single base substitution	T	G	intron_variant
PACA-AU	20	48724337	48724337	single base substitution	C	G	intron_variant
PACA-AU	20	48726886	48726886	single base substitution	A	T	intron_variant
PACA-AU	20	48731463	48731463	single base substitution	C	T	intron_variant
PACA-AU	20	48732930	48732942	deletion of <=200bp	CAGTTTTGGAATC	-	intron_variant
PACA-AU	20	48734245	48734245	single base substitution	T	C	intron_variant
PACA-AU	20	48736620	48736620	single base substitution	T	C	intron_variant
PACA-AU	20	48737558	48737558	single base substitution	A	G	intron_variant
PACA-AU	20	48741180	48741180	single base substitution	C	G	intron_variant
PACA-AU	20	48742125	48742125	single base substitution	C	T	intron_variant
PACA-AU	20	48745939	48745943	deletion of <=200bp	TTTCC	-	intron_variant
PACA-AU	20	48746068	48746068	single base substitution	A	G	intron_variant
PACA-AU	20	48750552	48750552	single base substitution	T	C	intron_variant
PACA-AU	20	48753858	48753858	single base substitution	G	A	intron_variant
PACA-AU	20	48756611	48756611	single base substitution	G	A	intron_variant
PACA-AU	20	48770221	48770221	single base substitution	G	A	upstream_gene_variant
PACA-CA	20	48696477	48696477	single base substitution	G	C	downstream_gene_variant
PACA-CA	20	48698019	48698019	single base substitution	C	T	3_prime_UTR_variant
PACA-CA	20	48698735	48698735	single base substitution	G	A	3_prime_UTR_variant
PACA-CA	20	48703734	48703734	single base substitution	A	G	intron_variant
PACA-CA	20	48710797	48710799	deletion of <=200bp	GCA	-	intron_variant
PACA-CA	20	48716833	48716833	single base substitution	A	G	intron_variant
PACA-CA	20	48717255	48717255	insertion of <=200bp	-	A	intron_variant
PACA-CA	20	48717301	48717315	deletion of <=200bp	GGACTATTTATAGTA	-	intron_variant
PACA-CA	20	48721555	48721555	single base substitution	C	G	intron_variant
PACA-CA	20	48721614	48721614	single base substitution	T	A	intron_variant
PACA-CA	20	48723833	48723833	single base substitution	C	T	intron_variant
PACA-CA	20	48724203	48724203	single base substitution	A	G	intron_variant
PACA-CA	20	48725433	48725433	single base substitution	A	G	intron_variant
PACA-CA	20	48726163	48726179	deletion of <=200bp	GTGATCCCAGCTACTCA	-	intron_variant
PACA-CA	20	48732639	48732639	single base substitution	C	T	intron_variant
PACA-CA	20	48732653	48732653	single base substitution	T	C	intron_variant
PACA-CA	20	48736362	48736362	single base substitution	G	C	intron_variant
PACA-CA	20	48736540	48736540	single base substitution	C	T	intron_variant
PACA-CA	20	48739668	48739668	single base substitution	G	C	intron_variant
PACA-CA	20	48740193	48740193	single base substitution	C	G	intron_variant
PACA-CA	20	48744624	48744624	single base substitution	A	G	synonymous_variant	F193F	579T>C
PACA-CA	20	48745009	48745009	single base substitution	G	C	intron_variant
PACA-CA	20	48745131	48745131	single base substitution	G	T	intron_variant
PACA-CA	20	48749174	48749174	single base substitution	G	T	intron_variant
PACA-CA	20	48767429	48767429	single base substitution	C	T	intron_variant
PACA-CA	20	48767445	48767445	single base substitution	C	T	intron_variant
PACA-CA	20	48767820	48767820	single base substitution	C	T	intron_variant
PACA-CA	20	48768031	48768031	single base substitution	A	G	intron_variant
PACA-CA	20	48768114	48768114	single base substitution	G	A	intron_variant
PACA-CA	20	48773575	48773575	single base substitution	G	A	upstream_gene_variant
PACA-CA	20	48774897	48774897	single base substitution	C	T	upstream_gene_variant
PACA-CA	20	48774966	48774966	single base substitution	G	T	upstream_gene_variant
PAEN-AU	20	48707955	48707955	single base substitution	T	C	intron_variant
PAEN-AU	20	48758423	48758423	single base substitution	C	A	intron_variant
PAEN-IT	20	48696174	48696174	single base substitution	G	A	downstream_gene_variant
PAEN-IT	20	48721979	48721979	single base substitution	A	C	intron_variant
PAEN-IT	20	48758701	48758701	single base substitution	C	A	intron_variant
PBCA-DE	20	48692803	48692803	insertion of <=200bp	-	T	downstream_gene_variant
PBCA-DE	20	48710787	48710787	single base substitution	A	G	intron_variant
PBCA-DE	20	48715156	48715156	single base substitution	C	A	intron_variant
PBCA-DE	20	48719739	48719739	single base substitution	G	A	intron_variant
PBCA-DE	20	48723236	48723236	single base substitution	G	A	intron_variant
PBCA-DE	20	48735165	48735165	insertion of <=200bp	-	T	intron_variant
PBCA-DE	20	48735327	48735327	insertion of <=200bp	-	T	intron_variant
PBCA-DE	20	48737018	48737018	insertion of <=200bp	-	TA	intron_variant
PBCA-DE	20	48741060	48741060	single base substitution	G	C	intron_variant
PBCA-DE	20	48745813	48745813	single base substitution	C	T	intron_variant
PRAD-CA	20	48723091	48723091	single base substitution	G	A	intron_variant
PRAD-CA	20	48730320	48730320	single base substitution	A	G	intron_variant
PRAD-CA	20	48744899	48744899	single base substitution	C	T	intron_variant
PRAD-CA	20	48754972	48754972	single base substitution	A	C	intron_variant
PRAD-CA	20	48774885	48774885	single base substitution	T	C	upstream_gene_variant
PRAD-UK	20	48692768	48692768	single base substitution	C	T	downstream_gene_variant
PRAD-UK	20	48695553	48695553	single base substitution	C	T	downstream_gene_variant
PRAD-UK	20	48733180	48733180	single base substitution	A	T	intron_variant
PRAD-UK	20	48758871	48758871	single base substitution	A	C	intron_variant
PRAD-UK	20	48770582	48770582	single base substitution	G	T	upstream_gene_variant
PRAD-UK	20	48774109	48774109	single base substitution	C	T	upstream_gene_variant
PRAD-US	20	48699408	48699408	single base substitution	G	A	missense_variant	S337L	1010C>T
PRAD-US	20	48713342	48713342	single base substitution	C	A	missense_variant	R236L	707G>T
PRAD-US	20	48746131	48746131	single base substitution	G	C	missense_variant	L144V	430C>G
READ-US	20	48741643	48741643	single base substitution	G	A	intron_variant
READ-US	20	48744617	48744617	single base substitution	G	T	missense_variant	P196T	586C>A
RECA-EU	20	48700097	48700097	single base substitution	C	T	intron_variant
RECA-EU	20	48702288	48702288	single base substitution	C	G	intron_variant
RECA-EU	20	48707149	48707149	single base substitution	A	C	intron_variant
RECA-EU	20	48707150	48707150	single base substitution	C	T	intron_variant
RECA-EU	20	48719141	48719141	single base substitution	C	T	intron_variant
RECA-EU	20	48730878	48730878	single base substitution	C	T	intron_variant
RECA-EU	20	48739839	48739839	single base substitution	A	G	intron_variant
RECA-EU	20	48746059	48746059	single base substitution	C	T	intron_variant
SKCA-BR	20	48693444	48693444	single base substitution	G	A	downstream_gene_variant
SKCA-BR	20	48695304	48695304	single base substitution	G	A	downstream_gene_variant
SKCA-BR	20	48695912	48695912	insertion of <=200bp	-	CT	downstream_gene_variant
SKCA-BR	20	48697050	48697050	single base substitution	T	G	downstream_gene_variant
SKCA-BR	20	48698539	48698539	single base substitution	G	A	3_prime_UTR_variant
SKCA-BR	20	48699374	48699374	single base substitution	C	T	synonymous_variant	R348R	1044G>A
SKCA-BR	20	48701418	48701418	single base substitution	G	A	intron_variant
SKCA-BR	20	48703235	48703235	single base substitution	G	A	intron_variant
SKCA-BR	20	48706259	48706259	single base substitution	C	T	intron_variant
SKCA-BR	20	48707010	48707010	insertion of <=200bp	-	CA	intron_variant
SKCA-BR	20	48707947	48707947	insertion of <=200bp	-	CT	intron_variant
SKCA-BR	20	48710568	48710568	single base substitution	T	A	intron_variant
SKCA-BR	20	48721192	48721192	single base substitution	C	A	intron_variant
SKCA-BR	20	48721595	48721595	single base substitution	G	A	intron_variant
SKCA-BR	20	48723806	48723806	single base substitution	C	T	intron_variant
SKCA-BR	20	48725248	48725248	single base substitution	T	A	intron_variant
SKCA-BR	20	48725261	48725261	single base substitution	C	A	intron_variant
SKCA-BR	20	48726535	48726535	single base substitution	T	C	intron_variant
SKCA-BR	20	48729803	48729803	single base substitution	C	A	intron_variant
SKCA-BR	20	48730558	48730558	single base substitution	C	T	intron_variant
SKCA-BR	20	48732233	48732233	single base substitution	T	A	intron_variant
SKCA-BR	20	48732482	48732482	single base substitution	G	A	intron_variant
SKCA-BR	20	48733318	48733318	single base substitution	T	C	intron_variant
SKCA-BR	20	48734011	48734011	single base substitution	A	C	intron_variant
SKCA-BR	20	48734361	48734361	single base substitution	C	T	intron_variant
SKCA-BR	20	48735994	48735994	single base substitution	T	G	intron_variant
SKCA-BR	20	48738206	48738206	single base substitution	G	A	intron_variant
SKCA-BR	20	48739824	48739824	single base substitution	C	T	intron_variant
SKCA-BR	20	48741200	48741200	single base substitution	G	C	intron_variant
SKCA-BR	20	48742368	48742368	single base substitution	T	C	intron_variant
SKCA-BR	20	48747084	48747084	single base substitution	G	A	intron_variant
SKCA-BR	20	48750111	48750111	single base substitution	A	G	intron_variant
SKCA-BR	20	48752635	48752635	single base substitution	T	A	intron_variant
SKCA-BR	20	48753259	48753259	insertion of <=200bp	-	CAA	intron_variant
SKCA-BR	20	48754198	48754198	single base substitution	C	T	intron_variant
SKCA-BR	20	48755476	48755476	single base substitution	G	A	intron_variant
SKCA-BR	20	48757971	48757971	single base substitution	T	C	intron_variant
SKCA-BR	20	48758308	48758308	single base substitution	G	A	intron_variant
SKCA-BR	20	48761346	48761346	single base substitution	T	C	intron_variant
SKCA-BR	20	48766946	48766946	single base substitution	G	A	intron_variant
SKCA-BR	20	48771360	48771360	single base substitution	G	C	upstream_gene_variant
SKCA-BR	20	48773177	48773177	single base substitution	C	T	upstream_gene_variant
SKCM-US	20	48699376	48699376	single base substitution	G	A	missense_variant	R348W	1042C>T
SKCM-US	20	48699408	48699408	single base substitution	G	A	missense_variant	S337L	1010C>T
SKCM-US	20	48700666	48700666	single base substitution	C	T	splice_region_variant
SKCM-US	20	48746086	48746086	single base substitution	G	A	missense_variant	P159S	475C>T
SKCM-US	20	48746165	48746165	single base substitution	G	A	synonymous_variant	F132F	396C>T
SKCM-US	20	48760118	48760118	single base substitution	G	A	synonymous_variant	F54F	162C>T
SKCM-US	20	48760138	48760138	single base substitution	A	C	missense_variant	C48G	142T>G
STAD-US	20	48713282	48713282	single base substitution	A	G	missense_variant	V256A	767T>C
STAD-US	20	48741643	48741643	single base substitution	G	A	intron_variant
STAD-US	20	48744613	48744613	single base substitution	C	T	missense_variant	R197H	590G>A
THCA-SA	20	48741172	48741172	single base substitution	A	G	intron_variant
UCEC-US	20	48700776	48700776	single base substitution	G	A	stop_gained	R286*	856C>T
UCEC-US	20	48713259	48713259	single base substitution	C	T	missense_variant	E264K	790G>A
UCEC-US	20	48713345	48713345	single base substitution	G	T	missense_variant	P235H	704C>A
UCEC-US	20	48744613	48744613	single base substitution	C	T	missense_variant	R197H	590G>A
UCEC-US	20	48746097	48746097	single base substitution	C	T	missense_variant	R155H	464G>A

Mutation - COSMIC
Sample Name	Mutation ID	Mutation CDS	Mutation AA	Mutation Description	Mutation Genome Position	Mutation Strand
TCGA-AA-A010-01	COSM285795	c.790G>A	p.E264K	Substitution - Missense	20:50096722-50096722	-
TCGA-BS-A0UV-01	COSM1027923	c.590G>A	p.R197H	Substitution - Missense	20:50128076-50128076	-
CHC892T	COSM4960173	c.72G>A	p.W24*	Substitution - Nonsense	20:50153566-50153566	-
S00472	COSM315991	c.761G>A	p.G254D	Substitution - Missense	20:50096751-50096751	-
TCGA-FW-A3R5-06	COSM3911554	c.162C>T	p.F54F	Substitution - coding silent	20:50143581-50143581	-
TCGA-EE-A181-06	COSM3547617	c.475C>T	p.P159S	Substitution - Missense	20:50129549-50129549	-
SNUH_G45_S1	COSM4001936	c.1062A>G	p.K354K	Substitution - coding silent	20:50082819-50082819	-
TCGA-CK-5916-01	COSM3693569	c.589C>T	p.R197C	Substitution - Missense	20:50128077-50128077	-
S00472	COSM315991	c.761G>A	p.G254D	Substitution - Missense	20:50096751-50096751	-
2476_PT	COSM5755604	c.235G>A	p.G79S	Substitution - Missense	20:50143508-50143508	-
TCGA-G7-6790-01	COSM3991771	c.783A>G	p.E261E	Substitution - coding silent	20:50096729-50096729	-
TCGA-EE-A29E-06	COSM3547619	c.396C>T	p.F132F	Substitution - coding silent	20:50129628-50129628	-
TCGA-EE-A3JH-06	COSM3547615	c.966G>A	p.V322V	Substitution - coding silent	20:50084129-50084129	-
sysucc-834T	COSM5486144	c.451G>C	p.A151P	Substitution - Missense	20:50129573-50129573	-
T2269	COSM4734395	c.707G>A	p.R236H	Substitution - Missense	20:50096805-50096805	-
TCGA-HC-7233-01	COSM3673134	c.430C>G	p.L144V	Substitution - Missense	20:50129594-50129594	-
SNUH_G76_S1	COSM3758629	c.372G>A	p.P124P	Substitution - coding silent	20:50129652-50129652	-
TCGA-AM-5820-01	COSM3758629	c.372G>A	p.P124P	Substitution - coding silent	20:50129652-50129652	-
TCGA-AX-A05Z-01	COSM285795	c.790G>A	p.E264K	Substitution - Missense	20:50096722-50096722	-
TCGA-HC-7230-01	COSM3673132	c.707G>T	p.R236L	Substitution - Missense	20:50096805-50096805	-
PTC-54C	COSM4134648	c.16A>G	p.N6D	Substitution - Missense	20:50153622-50153622	-
pfg030T	COSM4754697	c.404C>G	p.T135S	Substitution - Missense	20:50129620-50129620	-
BD114T	COSM5504683	c.906C>A	p.P302P	Substitution - coding silent	20:50084189-50084189	-
I2L-P25-Tumor-Organoid	COSM5366016	c.528C>A	p.I176I	Substitution - coding silent	20:50128138-50128138	-
TCGA-DA-A1I1-06	COSM3911556	c.142T>G	p.C48G	Substitution - Missense	20:50143601-50143601	-
TCGA-BR-8487-01	COSM4099320	c.767T>C	p.V256A	Substitution - Missense	20:50096745-50096745	-
TCGA-HT-7467-01	COSM3972598	c.918A>G	p.R306R	Substitution - coding silent	20:50084177-50084177	-
TCGA-43-6770-01	COSM724221	c.367G>C	p.D123H	Substitution - Missense	20:50129657-50129657	-
447	COSM4435107	c.132C>A	p.L44L	Substitution - coding silent	20:50143611-50143611	-
Pat_06_B	COSM2762491	c.409G>A	p.G137R	Substitution - Missense	20:50129615-50129615	-
ESCC_60	COSM5632744	c.950A>G	p.N317S	Substitution - Missense	20:50084145-50084145	-
TCGA-DK-A3X1-01	COSM3799650	c.1029C>T	p.V343V	Substitution - coding silent	20:50082852-50082852	-
CHC892T	COSM4960173	c.72G>A	p.W24*	Substitution - Nonsense	20:50153566-50153566	-
TCGA-AA-A010-01	COSM285796	c.391G>A	p.D131N	Substitution - Missense	20:50129633-50129633	-
LUAD-5V8LT	COSM402213	c.1072A>G	p.K358E	Substitution - Missense	20:50082809-50082809	-
PCSI_0468_Pa_P_526	COSM4809305	c.579T>C	p.F193F	Substitution - coding silent	20:50128087-50128087	-
TCGA-AA-3821-01	COSM294896	c.1088C>T	p.P363L	Substitution - Missense	20:50082793-50082793	-
CSCC-7-T	COSM3547617	c.475C>T	p.P159S	Substitution - Missense	20:50129549-50129549	-
CSCC-38-T	COSM4510335	c.833C>T	p.P278L	Substitution - Missense	20:50096679-50096679	-
TCGA-B2-3924-01	COSM3363305	c.126G>A	p.K42K	Substitution - coding silent	20:50143617-50143617	-
PTC-70C	COSM4134648	c.16A>G	p.N6D	Substitution - Missense	20:50153622-50153622	-
TCGA-A7-A0DB-01	COSM444016	c.910T>G	p.F304V	Substitution - Missense	20:50084185-50084185	-
TCGA-AG-3592-01	COSM3423719	c.586C>A	p.P196T	Substitution - Missense	20:50128080-50128080	-
TCGA-BR-8361-01	COSM1027923	c.590G>A	p.R197H	Substitution - Missense	20:50128076-50128076	-
TCGA-AP-A053-01	COSM1027921	c.704C>A	p.P235H	Substitution - Missense	20:50096808-50096808	-
TCGA-D3-A2JL-06	COSM1471454	c.1010C>T	p.S337L	Substitution - Missense	20:50082871-50082871	-
TCGA-E2-A152-01	COSM444012	c.1081C>T	p.Q361*	Substitution - Nonsense	20:50082800-50082800	-
TCGA-B5-A0JZ-01	COSM1027925	c.464G>A	p.R155H	Substitution - Missense	20:50129560-50129560	-
TCGA-HC-7078-01	COSM1471454	c.1010C>T	p.S337L	Substitution - Missense	20:50082871-50082871	-
509T	COSM4381924	c.1036G>T	p.E346*	Substitution - Nonsense	20:50082845-50082845	-
CSCC-54-T	COSM4491533	c.381C>T	p.I127I	Substitution - coding silent	20:50129643-50129643	-
TCGA-D3-A5GN-06	COSM2762465	c.1042C>T	p.R348W	Substitution - Missense	20:50082839-50082839	-
9113_T	COSM3673132	c.707G>T	p.R236L	Substitution - Missense	20:50096805-50096805	-
TCGA-DA-A1HV-06	COSM3547619	c.396C>T	p.F132F	Substitution - coding silent	20:50129628-50129628	-
TCGA-BG-A0M8-01	COSM1027927	c.358C>T	p.H120Y	Substitution - Missense	20:50129666-50129666	-
TCGA-AP-A0LP-01	COSM1027919	c.856C>T	p.R286*	Substitution - Nonsense	20:50084239-50084239	-
TCGA-61-1915-01	COSM1326678	c.203C>T	p.A68V	Substitution - Missense	20:50143540-50143540	-
Pat_28_B	COSM5858099	c.704C>T	p.P235L	Substitution - Missense	20:50096808-50096808	-
1N34-VS-1T34	COSM4974735	c.442C>T	p.L148L	Substitution - coding silent	20:50129582-50129582	-
CHEWS001	COSM4581884	c.648C>T	p.I216I	Substitution - coding silent	20:50128018-50128018	-

Mutation - IntOGen
Mutated from(ref)	Mutated to(alt)	Consequence Type	AA Mutation	CDS Mutation	Chr	Pos	Cancer
A	C	Missense	p.C48G	c.142T>G	20	48760138	CM
A	C	Missense	p.F304V	c.910T>G	20	48700722	BRCA
C	A	Missense	p.R236L	c.707G>T	20	48713342	PRAD
C	G	Missense	p.D123H	c.367G>C	20	48746194	LUSC
C	T	Missense	p.A58T	c.172G>A	20	48760108	BRCA
C	T	Missense	p.G254D	c.761G>A	20	48713288	SCLC
C	T	Missense	p.G273R	c.817G>A	20	48713232	HNSC
C	T	Missense	p.R155H	c.464G>A	20	48746097	UCEC
G	A	Missense	p.P159S	c.475C>T	20	48746086	CM
G	A	Missense	p.S337L	c.1010C>T	20	48699408	CM
G	A	Missense	p.S337L	c.1010C>T	20	48699408	PRAD
G	A	Nonsense	p.Q361*	c.1081C>T	20	48699337	BRCA
G	A	Nonsense	p.R286*	c.856C>T	20	48700776	UCEC
G	C	Missense	p.L144V	c.430C>G	20	48746131	PRAD
G	T	Missense	p.P235H	c.704C>A	20	48713345	UCEC
G	T	Missense	p.P303T	c.907C>A	20	48700725	STAD