ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for XIRP2

Gene summary

Gene information	Gene symbol	XIRP2
	Gene ID	129446
	Gene name	xin actin binding repeat containing 2
	Synonyms	CMYA3
	Cytomap	2q24.3
	Type of gene	protein-coding
	Description	xin actin-binding repeat-containing protein 2beta-xincardiomyopathy associated 3cardiomyopathy-associated protein 3myomaxinxeplinxin repeat protein 2
	Modification date	20180519
	UniProtAcc	A4UGR9
	Context	PubMed: XIRP2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for XIRP2 from UCSC genome browser

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Gene isoform structures and expression levels for XIRP2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for XIRP2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_330836	2	168074675:168074810:168096364:168096475:168097173:168097246	168096364:168096475	ENSG00000163092.15	ENST00000409728.1,ENST00000409756.2,ENST00000295237.9,ENST00000409273.1,ENST00000409195.1,ENST00000420519.1,ENST00000409605.1,ENST00000409043.1
exon_skip_330837	2	168098286:168098420:168099078:168108457:168110541:168110675	168099078:168108457	ENSG00000163092.15	ENST00000295237.9,ENST00000409273.1,ENST00000409195.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for XIRP2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_330836	2	168074675:168074810:168096364:168096475:168097173:168097246	168096364:168096475	ENSG00000163092.15	ENST00000409043.1,ENST00000409728.1,ENST00000409195.1,ENST00000409756.2,ENST00000420519.1,ENST00000295237.9,ENST00000409273.1,ENST00000409605.1
exon_skip_330837	2	168098286:168098420:168099078:168108457:168110541:168110675	168099078:168108457	ENSG00000163092.15	ENST00000409195.1,ENST00000295237.9,ENST00000409273.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for XIRP2

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST

Start of skipped exon

End of skipped exon

ORF

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST

Start of skipped exon

End of skipped exon

ORF

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Infer the effects of exon skipping event on protein functional features for XIRP2

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST

Length of mRNA

Length of AA seq.

Genomic start

Genomic end

mRNA start

mRNA end

AA start

AA end

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST

Length of mRNA

Length of AA seq.

Genomic start

Genomic end

mRNA start

mRNA end

AA start

AA end

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

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SNVs in the skipped exons for XIRP2

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

XIRP2_HNSC_exon_skip_330837_psi_boxplot.png
boxplot

XIRP2_SKCM_exon_skip_330837_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LUAD	TCGA-83-5908-01	exon_skip_330837	168099079	168108457	168099314	168099314	Frame_Shift_Del	A	-	p.Q471fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168099328	168099328	Frame_Shift_Del	C	-	p.P476fs
LUAD	TCGA-75-6214-01	exon_skip_330837	168099079	168108457	168099354	168099354	Frame_Shift_Del	C	-	p.V484fs
STAD	TCGA-B7-A5TI-01	exon_skip_330837	168099079	168108457	168099432	168099432	Frame_Shift_Del	A	-	p.R510fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168099536	168099536	Frame_Shift_Del	T	-	p.V545fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168099815	168099815	Frame_Shift_Del	A	-	p.E638fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168099815	168099815	Frame_Shift_Del	A	-	p.E638fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.G687fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.G687fs
STAD	TCGA-BR-8360-01	exon_skip_330837	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.T685fs
THYM	TCGA-ZB-A966-01	exon_skip_330837	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.D688fs
THYM	TCGA-ZB-A966-01	exon_skip_330837	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.G687fs
THYM	TCGA-ZB-A966-01	exon_skip_330837	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.T685fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168100107	168100107	Frame_Shift_Del	T	-	p.C735fs
COAD	TCGA-G4-6586-01	exon_skip_330837	168099079	168108457	168100190	168100190	Frame_Shift_Del	A	-	p.E541fs
BLCA	TCGA-UY-A78K-01	exon_skip_330837	168099079	168108457	168100309	168100309	Frame_Shift_Del	G	-	p.G804fs
OV	TCGA-23-1124-01	exon_skip_330837	168099079	168108457	168100320	168100336	Frame_Shift_Del	TAAGGCAAAGTGGTTAT	-	p.K807fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168100394	168100394	Frame_Shift_Del	A	-	p.E831fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168100394	168100394	Frame_Shift_Del	A	-	p.E831fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168100461	168100461	Frame_Shift_Del	A	-	p.L853fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168100537	168100537	Frame_Shift_Del	T	-	p.F879fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168101225	168101225	Frame_Shift_Del	A	-	p.E1108fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168101275	168101275	Frame_Shift_Del	A	-	p.K1125fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168102380	168102380	Frame_Shift_Del	T	-	p.L1493fs
LUAD	TCGA-95-7039-01	exon_skip_330837	168099079	168108457	168102600	168102600	Frame_Shift_Del	G	-	p.Q1566fs
COAD	TCGA-CM-5348-01	exon_skip_330837	168099079	168108457	168102759	168102772	Frame_Shift_Del	TGAAAGAGAGATTT	-	p.1397_1401del
LIHC	TCGA-ZP-A9CY-01	exon_skip_330837	168099079	168108457	168102782	168102782	Frame_Shift_Del	A	-	p.E1627fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168102792	168102792	Frame_Shift_Del	G	-	p.K1630fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168102795	168102795	Frame_Shift_Del	A	-	p.G1631fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168102891	168102891	Frame_Shift_Del	A	-	p.I1663fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168102891	168102891	Frame_Shift_Del	A	-	p.I1663fs
LIHC	TCGA-RC-A6M6-01	exon_skip_330837	168099079	168108457	168102891	168102891	Frame_Shift_Del	A	-	p.I1663fs
LUAD	TCGA-64-1679-01	exon_skip_330837	168099079	168108457	168103030	168103030	Frame_Shift_Del	G	-	p.G1710fs
LUAD	TCGA-64-1679-01	exon_skip_330837	168099079	168108457	168103030	168103030	Frame_Shift_Del	G	-	p.G1711fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168103135	168103135	Frame_Shift_Del	T	-	p.F1746fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168103282	168103282	Frame_Shift_Del	A	-	p.K1794fs
BLCA	TCGA-DK-AA6R-01	exon_skip_330837	168099079	168108457	168103736	168103736	Frame_Shift_Del	T	-	p.I1945fs
STAD	TCGA-HU-A4G8-01	exon_skip_330837	168099079	168108457	168103737	168103737	Frame_Shift_Del	A	-	p.I1945fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168103964	168103964	Frame_Shift_Del	C	-	p.A2021fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168104066	168104066	Frame_Shift_Del	T	-	p.V2055fs
LUAD	TCGA-86-8672-01	exon_skip_330837	168099079	168108457	168104122	168104122	Frame_Shift_Del	C	-	p.L2074fs
LUAD	TCGA-55-8302-01	exon_skip_330837	168099079	168108457	168104577	168104577	Frame_Shift_Del	G	-	p.M2225fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168104668	168104668	Frame_Shift_Del	A	-	p.K2256fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168104691	168104691	Frame_Shift_Del	A	-	p.L2263fs
LUAD	TCGA-86-8585-01	exon_skip_330837	168099079	168108457	168104791	168104791	Frame_Shift_Del	C	-	p.P2299fs
COAD	TCGA-G4-6320-01	exon_skip_330837	168099079	168108457	168104864	168104864	Frame_Shift_Del	A	-	p.E2099fs
LIHC	TCGA-BC-A3KG-01	exon_skip_330837	168099079	168108457	168104922	168104922	Frame_Shift_Del	T	-	p.S2340fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168105095	168105095	Frame_Shift_Del	A	-	p.Q2398fs
LUAD	TCGA-55-A4DG-01	exon_skip_330837	168099079	168108457	168105187	168105187	Frame_Shift_Del	C	-	p.L2429fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168105224	168105224	Frame_Shift_Del	C	-	p.S2441fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168105263	168105263	Frame_Shift_Del	A	-	p.E2454fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168105292	168105292	Frame_Shift_Del	A	-	p.K2465fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168105292	168105292	Frame_Shift_Del	A	-	p.K2465fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168105436	168105436	Frame_Shift_Del	A	-	p.K2513fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168105629	168105629	Frame_Shift_Del	A	-	p.Q2576fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168105629	168105629	Frame_Shift_Del	A	-	p.Q2576fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168105868	168105868	Frame_Shift_Del	A	-	p.K2657fs
LUAD	TCGA-86-7955-01	exon_skip_330837	168099079	168108457	168105918	168105918	Frame_Shift_Del	T	-	p.A2672fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168105932	168105932	Frame_Shift_Del	A	-	p.Q2677fs
LIHC	TCGA-RC-A6M6-01	exon_skip_330837	168099079	168108457	168105997	168105997	Frame_Shift_Del	C	-	p.L2698fs
LIHC	TCGA-RC-A6M6-01	exon_skip_330837	168099079	168108457	168105997	168105997	Frame_Shift_Del	C	-	p.P2699fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168106033	168106033	Frame_Shift_Del	A	-	p.K2711fs
COAD	TCGA-AD-6895-01	exon_skip_330837	168099079	168108457	168106361	168106361	Frame_Shift_Del	A	-	p.E2598fs
COAD	TCGA-D5-6928-01	exon_skip_330837	168099079	168108457	168106361	168106361	Frame_Shift_Del	A	-	p.E2598fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168106361	168106361	Frame_Shift_Del	A	-	p.E2820fs
STAD	TCGA-HU-8602-01	exon_skip_330837	168099079	168108457	168106361	168106361	Frame_Shift_Del	A	-	p.E2820fs
LUAD	TCGA-50-7109-01	exon_skip_330837	168099079	168108457	168106663	168106664	Frame_Shift_Del	AC	-	p.T2921fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168106672	168106672	Frame_Shift_Del	A	-	p.K2924fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168106677	168106677	Frame_Shift_Del	T	-	p.S2925fs
KIRP	TCGA-A4-A5XZ-01	exon_skip_330837	168099079	168108457	168106686	168106687	Frame_Shift_Del	CT	-	p.S2928fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168106749	168106749	Frame_Shift_Del	A	-	p.R2949fs
COAD	TCGA-CM-6171-01	exon_skip_330837	168099079	168108457	168106943	168106944	Frame_Shift_Del	AT	-	p.2792_2792del
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168107031	168107031	Frame_Shift_Del	A	-	p.G3043fs
LIHC	TCGA-DD-A39Y-01	exon_skip_330837	168099079	168108457	168107038	168107038	Frame_Shift_Del	C	-	p.P3046fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168107485	168107485	Frame_Shift_Del	G	-	p.G3195fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168107540	168107540	Frame_Shift_Del	A	-	p.E3213fs
LIHC	TCGA-DD-A3A0-01	exon_skip_330837	168099079	168108457	168107547	168107547	Frame_Shift_Del	C	-	p.I3215fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168108098	168108098	Frame_Shift_Del	A	-	p.E3399fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168108238	168108238	Frame_Shift_Del	A	-	p.K3446fs
LIHC	TCGA-DD-A1EG-01	exon_skip_330837	168099079	168108457	168108299	168108299	Frame_Shift_Del	T	-	p.I3466fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_330837	168099079	168108457	168108333	168108333	Frame_Shift_Del	A	-	p.R3477fs
LIHC	TCGA-BC-A112-01	exon_skip_330837	168099079	168108457	168099431	168099432	Frame_Shift_Ins	-	A	p.K510fs
KIRC	TCGA-A3-3320-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-A3-3346-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-A3-3363-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-A3-3365-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-A3-3372-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-A3-3374-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-AK-3427-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-AK-3443-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-AK-3453-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-AK-3465-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
KIRC	TCGA-AS-3778-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
LUAD	TCGA-44-2656-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.T685fs
LUAD	TCGA-44-2656-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
LUAD	TCGA-44-2659-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
LUAD	TCGA-44-2665-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
LUAD	TCGA-55-1592-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
LUAD	TCGA-55-1596-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.TG685fs
LUAD	TCGA-64-1678-01	exon_skip_330837	168099079	168108457	168099957	168099958	Frame_Shift_Ins	-	G	p.T685fs
LIHC	TCGA-BC-A112-01	exon_skip_330837	168099079	168108457	168100591	168100592	Frame_Shift_Ins	-	A	p.K897fs
UCS	TCGA-ND-A4WC-01	exon_skip_330837	168099079	168108457	168101562	168101563	Frame_Shift_Ins	-	A	p.LK1220fs
STAD	TCGA-BR-7703-01	exon_skip_330837	168099079	168108457	168101959	168101960	Frame_Shift_Ins	-	T	p.L1353fs
STAD	TCGA-BR-7703-01	exon_skip_330837	168099079	168108457	168101960	168101961	Frame_Shift_Ins	-	T	p.L1353fs
KIRC	TCGA-A3-3374-01	exon_skip_330837	168099079	168108457	168102336	168102337	Frame_Shift_Ins	-	G	p.G1479fs
STAD	TCGA-VQ-A8P2-01	exon_skip_330837	168099079	168108457	168102744	168102745	Frame_Shift_Ins	-	A	p.S1614fs
STAD	TCGA-VQ-A8P2-01	exon_skip_330837	168099079	168108457	168102744	168102745	Frame_Shift_Ins	-	A	p.SK1614fs
LIHC	TCGA-BC-A112-01	exon_skip_330837	168099079	168108457	168102775	168102776	Frame_Shift_Ins	-	T	p.*1625fs
SKCM	TCGA-EE-A2GI-06	exon_skip_330837	168099079	168108457	168103439	168103440	Frame_Shift_Ins	-	T	p.I1846fs
LIHC	TCGA-BC-A112-01	exon_skip_330837	168099079	168108457	168103641	168103642	Frame_Shift_Ins	-	A	p.LK1913fs
STAD	TCGA-BR-8360-01	exon_skip_330837	168099079	168108457	168103736	168103737	Frame_Shift_Ins	-	A	p.I1945fs
STAD	TCGA-BR-8360-01	exon_skip_330837	168099079	168108457	168103737	168103738	Frame_Shift_Ins	-	A	p.I1945fs
LIHC	TCGA-BC-A112-01	exon_skip_330837	168099079	168108457	168104502	168104503	Frame_Shift_Ins	-	A	p.K2200fs
LIHC	TCGA-BC-A112-01	exon_skip_330837	168099079	168108457	168104502	168104503	Frame_Shift_Ins	-	A	p.KK2200fs
COAD	TCGA-F4-6856-01	exon_skip_330837	168099079	168108457	168104863	168104864	Frame_Shift_Ins	-	A	p.E2099fs
HNSC	TCGA-UF-A7JA-01	exon_skip_330837	168099079	168108457	168104863	168104864	Frame_Shift_Ins	-	A	p.K2321fs
LUAD	TCGA-44-8120-01	exon_skip_330837	168099079	168108457	168106134	168106135	Frame_Shift_Ins	-	A	p.TK2744fs
PAAD	TCGA-IB-7651-01	exon_skip_330837	168099079	168108457	168106134	168106135	Frame_Shift_Ins	-	A	p.T2744fs
PAAD	TCGA-IB-7651-01	exon_skip_330837	168099079	168108457	168106134	168106135	Frame_Shift_Ins	-	A	p.TK2744fs
UCEC	TCGA-AP-A0LH-01	exon_skip_330837	168099079	168108457	168106624	168106625	Frame_Shift_Ins	-	A	p.Q2908fs
COAD	TCGA-CA-6717-01	exon_skip_330837	168099079	168108457	168108332	168108333	Frame_Shift_Ins	-	A	p.R3255fs
LIHC	TCGA-BC-A112-01	exon_skip_330837	168099079	168108457	168108332	168108333	Frame_Shift_Ins	-	A	p.K3477fs
BLCA	TCGA-K4-A83P-01	exon_skip_330836	168096365	168096475	168096396	168096396	Nonsense_Mutation	C	G	p.S297*
READ	TCGA-EI-6917-01	exon_skip_330837	168099079	168108457	168099253	168099253	Nonsense_Mutation	G	T	p.E229X
UCEC	TCGA-BS-A0UF-01	exon_skip_330837	168099079	168108457	168099253	168099253	Nonsense_Mutation	G	T	p.E451*
LUAD	TCGA-50-6590-01	exon_skip_330837	168099079	168108457	168099600	168099600	Nonsense_Mutation	G	A	p.W566*
ESCA	TCGA-L5-A8NN-01	exon_skip_330837	168099079	168108457	168099625	168099625	Nonsense_Mutation	C	T	p.Q575*
ESCA	TCGA-L5-A8NN-01	exon_skip_330837	168099079	168108457	168099625	168099625	Nonsense_Mutation	C	T	p.Q575X
SKCM	TCGA-EE-A2MS-06	exon_skip_330837	168099079	168108457	168099639	168099639	Nonsense_Mutation	G	A	p.W357X
SKCM	TCGA-EE-A2MS-06	exon_skip_330837	168099079	168108457	168099639	168099639	Nonsense_Mutation	G	A	p.W579*
HNSC	TCGA-QK-A8Z9-01	exon_skip_330837	168099079	168108457	168100081	168100081	Nonsense_Mutation	G	T	p.G727*
HNSC	TCGA-CV-7568-01	exon_skip_330837	168099079	168108457	168100279	168100279	Nonsense_Mutation	C	T	p.R793*
SKCM	TCGA-D3-A2JH-06	exon_skip_330837	168099079	168108457	168100390	168100390	Nonsense_Mutation	A	T	p.K830*
LUAD	TCGA-MN-A4N5-01	exon_skip_330837	168099079	168108457	168100393	168100393	Nonsense_Mutation	G	T	p.E831*
LUAD	TCGA-97-8176-01	exon_skip_330837	168099079	168108457	168100900	168100900	Nonsense_Mutation	C	T	p.Q1000*
KICH	TCGA-KL-8328-01	exon_skip_330837	168099079	168108457	168100984	168100984	Nonsense_Mutation	C	T	p.Q1028*
SKCM	TCGA-W3-AA1V-06	exon_skip_330837	168099079	168108457	168101011	168101011	Nonsense_Mutation	C	T	p.Q1037*
LUAD	TCGA-64-1678-01	exon_skip_330837	168099079	168108457	168101224	168101224	Nonsense_Mutation	G	T	p.E1108*
LUAD	TCGA-05-4427-01	exon_skip_330837	168099079	168108457	168101659	168101659	Nonsense_Mutation	G	T	p.E1253*
LUAD	TCGA-55-7907-01	exon_skip_330837	168099079	168108457	168101740	168101740	Nonsense_Mutation	G	T	p.E1280*
HNSC	TCGA-BA-6872-01	exon_skip_330837	168099079	168108457	168101809	168101809	Nonsense_Mutation	G	T	p.E1303*
SKCM	TCGA-WE-A8K1-06	exon_skip_330837	168099079	168108457	168101857	168101857	Nonsense_Mutation	C	T	p.Q1319*
STAD	TCGA-HU-8602-01	exon_skip_330837	168099079	168108457	168101881	168101881	Nonsense_Mutation	C	T	p.R1327*
STAD	TCGA-HU-8602-01	exon_skip_330837	168099079	168108457	168101881	168101881	Nonsense_Mutation	C	T	p.R1327X
KIRC	TCGA-BP-4989-01	exon_skip_330837	168099079	168108457	168101917	168101917	Nonsense_Mutation	A	T	p.K1339X
SKCM	TCGA-FS-A1ZA-06	exon_skip_330837	168099079	168108457	168101944	168101944	Nonsense_Mutation	C	T	p.R1348*
LUAD	TCGA-05-5425-01	exon_skip_330837	168099079	168108457	168102031	168102031	Nonsense_Mutation	G	T	p.E1377*
COAD	TCGA-AZ-4315-01	exon_skip_330837	168099079	168108457	168102211	168102211	Nonsense_Mutation	C	T	p.R1215X
LUSC	TCGA-63-6202-01	exon_skip_330837	168099079	168108457	168102211	168102211	Nonsense_Mutation	C	T	p.R1437*
ESCA	TCGA-R6-A6Y2-01	exon_skip_330837	168099079	168108457	168102391	168102391	Nonsense_Mutation	C	T	p.R1497*
ESCA	TCGA-R6-A6Y2-01	exon_skip_330837	168099079	168108457	168102391	168102391	Nonsense_Mutation	C	T	p.R1497X
UCEC	TCGA-AP-A051-01	exon_skip_330837	168099079	168108457	168102483	168102483	Nonsense_Mutation	G	A	p.W1527*
UCEC	TCGA-AX-A0J0-01	exon_skip_330837	168099079	168108457	168102643	168102643	Nonsense_Mutation	C	T	p.R1581*
LUAD	TCGA-17-Z055-01	exon_skip_330837	168099079	168108457	168102688	168102688	Nonsense_Mutation	C	T	p.Q1596*
BLCA	TCGA-DK-A6AW-01	exon_skip_330837	168099079	168108457	168102694	168102694	Nonsense_Mutation	G	T	p.E1598*
COAD	TCGA-A6-6141-01	exon_skip_330837	168099079	168108457	168103076	168103076	Nonsense_Mutation	C	A	p.S1503X
LUAD	TCGA-67-4679-01	exon_skip_330837	168099079	168108457	168103076	168103076	Nonsense_Mutation	C	A	p.S1725*
BLCA	TCGA-K4-A54R-01	exon_skip_330837	168099079	168108457	168103117	168103117	Nonsense_Mutation	G	T	p.E1739*
UCS	TCGA-ND-A4WC-01	exon_skip_330837	168099079	168108457	168103196	168103196	Nonsense_Mutation	C	A	p.S1765*
UCS	TCGA-ND-A4WC-01	exon_skip_330837	168099079	168108457	168103196	168103196	Nonsense_Mutation	C	A	p.S1765X
READ	TCGA-F5-6814-01	exon_skip_330837	168099079	168108457	168103237	168103237	Nonsense_Mutation	G	T	p.E1557X
GBM	TCGA-27-1838-01	exon_skip_330837	168099079	168108457	168103543	168103543	Nonsense_Mutation	C	T	p.R1881*
SKCM	TCGA-ER-A19E-06	exon_skip_330837	168099079	168108457	168103547	168103547	Nonsense_Mutation	G	A	p.W1660X
SKCM	TCGA-ER-A19E-06	exon_skip_330837	168099079	168108457	168103547	168103547	Nonsense_Mutation	G	A	p.W1882*
LUAD	TCGA-78-7167-01	exon_skip_330837	168099079	168108457	168103772	168103773	Nonsense_Mutation	CG	AA	p.S1957*
BLCA	TCGA-G2-A3IE-01	exon_skip_330837	168099079	168108457	168103798	168103798	Nonsense_Mutation	C	T	p.Q1966*
SKCM	TCGA-EE-A2MD-06	exon_skip_330837	168099079	168108457	168103798	168103798	Nonsense_Mutation	C	T	p.Q1744X
SKCM	TCGA-EE-A2MD-06	exon_skip_330837	168099079	168108457	168103798	168103798	Nonsense_Mutation	C	T	p.Q1966*
READ	TCGA-F5-6814-01	exon_skip_330837	168099079	168108457	168103936	168103936	Nonsense_Mutation	G	T	p.E1790X
STAD	TCGA-BR-A4PD-01	exon_skip_330837	168099079	168108457	168103939	168103939	Nonsense_Mutation	A	T	p.R2013*
STAD	TCGA-BR-A4PD-01	exon_skip_330837	168099079	168108457	168103939	168103939	Nonsense_Mutation	A	T	p.R2013X
BRCA	TCGA-E9-A295-01	exon_skip_330837	168099079	168108457	168104572	168104572	Nonsense_Mutation	G	T	p.E2224*
UCEC	TCGA-B5-A11E-01	exon_skip_330837	168099079	168108457	168104752	168104752	Nonsense_Mutation	G	T	p.E2284*
KIRC	TCGA-EU-5904-01	exon_skip_330837	168099079	168108457	168105254	168105254	Nonsense_Mutation	C	A	p.S2451*
KIRC	TCGA-EU-5904-01	exon_skip_330837	168099079	168108457	168105254	168105254	Nonsense_Mutation	C	A	p.S2451X
BRCA	TCGA-D8-A1J9-01	exon_skip_330837	168099079	168108457	168106216	168106216	Nonsense_Mutation	C	T	p.Q2772*
UCEC	TCGA-A5-A0GP-01	exon_skip_330837	168099079	168108457	168106318	168106318	Nonsense_Mutation	G	T	p.E2806*
LUSC	TCGA-34-2600-01	exon_skip_330837	168099079	168108457	168106414	168106414	Nonsense_Mutation	G	T	p.E2838*
SKCM	TCGA-FS-A1ZZ-06	exon_skip_330837	168099079	168108457	168106510	168106510	Nonsense_Mutation	C	T	p.Q2648X
SKCM	TCGA-FS-A1ZZ-06	exon_skip_330837	168099079	168108457	168106510	168106510	Nonsense_Mutation	C	T	p.Q2870*
LUAD	TCGA-53-A4EZ-01	exon_skip_330837	168099079	168108457	168106649	168106649	Nonsense_Mutation	C	G	p.S2916*
LUAD	TCGA-50-6590-01	exon_skip_330837	168099079	168108457	168106954	168106954	Nonsense_Mutation	C	T	p.Q3018*
COAD	TCGA-D5-6928-01	exon_skip_330837	168099079	168108457	168107293	168107293	Nonsense_Mutation	C	T	p.R2909X
LUAD	TCGA-05-4420-01	exon_skip_330837	168099079	168108457	168107680	168107680	Nonsense_Mutation	G	T	p.E3260*
LUAD	TCGA-44-7659-01	exon_skip_330837	168099079	168108457	168107682	168107683	Nonsense_Mutation	GG	TT	p.3260_3261EE>D*
LUAD	TCGA-44-7659-01	exon_skip_330837	168099079	168108457	168107683	168107683	Nonsense_Mutation	G	T	p.E3261*
ACC	TCGA-OR-A5KB-01	exon_skip_330837	168099079	168108457	168107715	168107715	Nonsense_Mutation	T	G	p.Y3049X
ACC	TCGA-OR-A5KB-01	exon_skip_330837	168099079	168108457	168107715	168107715	Nonsense_Mutation	T	G	p.Y3271*
ACC	TCGA-OR-A5KB-01	exon_skip_330837	168099079	168108457	168107715	168107715	Nonsense_Mutation	T	G	p.Y3271X
COAD	TCGA-AA-3510-01	exon_skip_330837	168099079	168108457	168107951	168107951	Nonsense_Mutation	C	A	p.S3128X
LUSC	TCGA-18-4086-01	exon_skip_330837	168099079	168108457	168108097	168108097	Nonsense_Mutation	G	T	p.E3399*
LUAD	TCGA-75-5126-01	exon_skip_330837	168099079	168108457	168108197	168108197	Nonsense_Mutation	C	A	p.S3432*
STAD	TCGA-BR-4357-01	exon_skip_330836	168096365	168096475	168096364	168096364	Splice_Site	G	T	p.E287_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-W3-AA1V-06
	Cancer type: SKCM
	ESID: exon_skip_330837
	Skipped exon start: 168099079
	Skipped exon end: 168108457
	Mutation start: 168101011
	Mutation end: 168101011
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q1037*
exon_skip_286364_SKCM_TCGA-W3-AA1V-06.png
exon_skip_297961_SKCM_TCGA-W3-AA1V-06.png
exon_skip_316320_SKCM_TCGA-W3-AA1V-06.png
exon_skip_330837_SKCM_TCGA-W3-AA1V-06.png
exon_skip_349643_SKCM_TCGA-W3-AA1V-06.png
exon_skip_349644_SKCM_TCGA-W3-AA1V-06.png
exon_skip_463424_SKCM_TCGA-W3-AA1V-06.png
exon_skip_478361_SKCM_TCGA-W3-AA1V-06.png

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
HCT116_LARGE_INTESTINE	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.G687fs
JHUEM1_ENDOMETRIUM	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.G687fs
RCCFG2_KIDNEY	168099079	168108457	168099958	168099958	Frame_Shift_Del	G	-	p.G687fs
IGROV1_OVARY	168099079	168108457	168101580	168101580	Frame_Shift_Del	A	-	p.L1226fs
LXF289_LUNG	168099079	168108457	168102682	168102683	Frame_Shift_Del	GA	-	p.E1594fs
SNU1040_LARGE_INTESTINE	168099079	168108457	168103737	168103737	Frame_Shift_Del	A	-	p.I1945fs
TGBC11TKB_STOMACH	168099079	168108457	168103737	168103737	Frame_Shift_Del	A	-	p.I1945fs
NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168103975	168103975	Frame_Shift_Del	A	-	p.T2025fs
2313287_STOMACH	168099079	168108457	168104763	168104763	Frame_Shift_Del	C	-	p.C2287fs
LNCAPCLONEFGC_PROSTATE	168099079	168108457	168104937	168104937	Frame_Shift_Del	T	-	p.P2345fs
HEC59_ENDOMETRIUM	168099079	168108457	168105868	168105868	Frame_Shift_Del	A	-	p.K2657fs
NCIH2342_LUNG	168099079	168108457	168106016	168106016	Frame_Shift_Del	C	-	p.S2705fs
PLCPRF5_LIVER	168099079	168108457	168106225	168106225	Frame_Shift_Del	A	-	p.K2776fs
CORL88_LUNG	168099079	168108457	168106288	168106288	Frame_Shift_Del	A	-	p.K2796fs
DU145_PROSTATE	168099079	168108457	168106336	168106337	Frame_Shift_Del	AG	-	p.R2812fs
OC316_OVARY	168099079	168108457	168106361	168106361	Frame_Shift_Del	A	-	p.E2820fs
FTC238_THYROID	168099079	168108457	168106361	168106361	Frame_Shift_Del	A	-	p.E2820fs
OC314_OVARY	168099079	168108457	168106361	168106361	Frame_Shift_Del	A	-	p.E2820fs
NCIH510_LUNG	168099079	168108457	168107126	168107126	Frame_Shift_Del	C	-	p.A3075fs
IM95_STOMACH	168099079	168108457	168100591	168100592	Frame_Shift_Ins	-	A	p.Q897fs
SKUT1_SOFT_TISSUE	168099079	168108457	168104587	168104588	Frame_Shift_Ins	-	A	p.E2229fs
HS695T_SKIN	168099079	168108457	168104762	168104763	Frame_Shift_Ins	-	CC	p.CP2287fs
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168105291	168105292	Frame_Shift_Ins	-	A	p.K2464fs
GAMG_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168105547	168105548	Frame_Shift_Ins	-	A	p.E2549fs
HCT116_LARGE_INTESTINE	168099079	168108457	168106018	168106019	Frame_Shift_Ins	-	A	p.P2706fs
JAR_PLACENTA	168099079	168108457	168106223	168106224	Frame_Shift_Ins	-	T	p.K2775fs
SKNAS_AUTONOMIC_GANGLIA	168099079	168108457	168106545	168106546	Frame_Shift_Ins	-	GA	p.E2882fs
HMVII_SKIN	168099079	168108457	168104839	168104841	In_Frame_Del	CCA	-	p.P2315del
NCIH2286_LUNG	168099079	168108457	168107838	168107852	In_Frame_Del	TGAAGCGGCCAACCG	-	p.3312_3317YEAANR>*
MKN28_STOMACH	168096365	168096475	168096374	168096374	Missense_Mutation	C	A	p.H323N
DU145_PROSTATE	168096365	168096475	168096381	168096381	Missense_Mutation	G	A	p.S325N
YD38_UPPER_AERODIGESTIVE_TRACT	168096365	168096475	168096464	168096464	Missense_Mutation	G	A	p.G353R
RERFLCKJ_LUNG	168099079	168108457	168099170	168099170	Missense_Mutation	C	T	p.T423I
JHUEM7_ENDOMETRIUM	168099079	168108457	168099209	168099209	Missense_Mutation	C	T	p.S436L
T24_URINARY_TRACT	168099079	168108457	168099268	168099268	Missense_Mutation	C	A	p.P456T
NCIH2009_LUNG	168099079	168108457	168099269	168099269	Missense_Mutation	C	A	p.P456Q
NB13_AUTONOMIC_GANGLIA	168099079	168108457	168099275	168099275	Missense_Mutation	A	T	p.D458V
LUDLU1_LUNG	168099079	168108457	168099277	168099277	Missense_Mutation	G	A	p.V459I
JAR_PLACENTA	168099079	168108457	168099305	168099305	Missense_Mutation	C	A	p.A468E
DU145_PROSTATE	168099079	168108457	168099311	168099311	Missense_Mutation	C	A	p.S470Y
NCIH2009_LUNG	168099079	168108457	168099361	168099361	Missense_Mutation	G	C	p.D487H
NCIH2171_LUNG	168099079	168108457	168099388	168099388	Missense_Mutation	T	C	p.Y496H
RL952_ENDOMETRIUM	168099079	168108457	168099425	168099425	Missense_Mutation	A	G	p.E508G
SCC4_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168099446	168099446	Missense_Mutation	A	T	p.K515I
JHUEM7_ENDOMETRIUM	168099079	168108457	168099448	168099448	Missense_Mutation	G	T	p.D516Y
NCIH650_LUNG	168099079	168108457	168099499	168099499	Missense_Mutation	A	T	p.S533C
CALU3_LUNG	168099079	168108457	168099569	168099569	Missense_Mutation	A	G	p.D556G
HCC2450_LUNG	168099079	168108457	168099575	168099575	Missense_Mutation	A	C	p.N558T
TE5_OESOPHAGUS	168099079	168108457	168099604	168099604	Missense_Mutation	G	A	p.E568K
NCIH2110_LUNG	168099079	168108457	168099616	168099616	Missense_Mutation	G	A	p.G572R
SNGM_ENDOMETRIUM	168099079	168108457	168099781	168099781	Missense_Mutation	G	A	p.D627N
JIMT1_BREAST	168099079	168108457	168099799	168099799	Missense_Mutation	T	G	p.S633A
SW684_SOFT_TISSUE	168099079	168108457	168099832	168099832	Missense_Mutation	C	T	p.P644S
NCIH748_LUNG	168099079	168108457	168099863	168099863	Missense_Mutation	C	G	p.A654G
SW684_SOFT_TISSUE	168099079	168108457	168099931	168099931	Missense_Mutation	G	A	p.A677T
A704_KIDNEY	168099079	168108457	168099937	168099937	Missense_Mutation	A	G	p.T679A
NCIH2009_LUNG	168099079	168108457	168099951	168099951	Missense_Mutation	C	A	p.D683E
KPNYN_AUTONOMIC_GANGLIA	168099079	168108457	168099959	168099959	Missense_Mutation	G	A	p.G686E
NCIH2227_LUNG	168099079	168108457	168100009	168100009	Missense_Mutation	C	A	p.Q703K
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168100063	168100063	Missense_Mutation	G	A	p.E721K
CL34_LARGE_INTESTINE	168099079	168108457	168100070	168100070	Missense_Mutation	A	G	p.K723R
COLO680N_OESOPHAGUS	168099079	168108457	168100082	168100082	Missense_Mutation	G	C	p.G727A
SW684_SOFT_TISSUE	168099079	168108457	168100082	168100082	Missense_Mutation	G	A	p.G727E
HO1U1_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168100111	168100111	Missense_Mutation	G	A	p.E737K
SW684_SOFT_TISSUE	168099079	168108457	168100159	168100159	Missense_Mutation	G	A	p.E753K
NCIH2887_LUNG	168099079	168108457	168100172	168100172	Missense_Mutation	T	G	p.V757G
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	168099079	168108457	168100186	168100186	Missense_Mutation	G	A	p.V762I
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168100190	168100190	Missense_Mutation	A	G	p.E763G
SISO_CERVIX	168099079	168108457	168100211	168100211	Missense_Mutation	C	T	p.A770V
BICR16_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168100235	168100235	Missense_Mutation	C	T	p.P778L
HEC251_ENDOMETRIUM	168099079	168108457	168100255	168100255	Missense_Mutation	G	T	p.D785Y
NCIH508_LARGE_INTESTINE	168099079	168108457	168100255	168100255	Missense_Mutation	G	A	p.D785N
HCE4_OESOPHAGUS	168099079	168108457	168100259	168100259	Missense_Mutation	T	C	p.I786T
GCIY_STOMACH	168099079	168108457	168100292	168100292	Missense_Mutation	T	C	p.M797T
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168100316	168100316	Missense_Mutation	T	G	p.V805G
SNU475_LIVER	168099079	168108457	168100381	168100381	Missense_Mutation	A	G	p.I827V
KARPAS231_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168100385	168100385	Missense_Mutation	T	C	p.I828T
SKMG1_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168100392	168100392	Missense_Mutation	G	C	p.K830N
M14_SKIN	168099079	168108457	168100393	168100393	Missense_Mutation	G	A	p.E831K
HEC251_ENDOMETRIUM	168099079	168108457	168100398	168100398	Missense_Mutation	A	C	p.K832N
GP2D_LARGE_INTESTINE	168099079	168108457	168100401	168100401	Missense_Mutation	A	G	p.I833M
MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168100409	168100409	Missense_Mutation	C	T	p.T836I
KMH2_THYROID	168099079	168108457	168100409	168100409	Missense_Mutation	C	T	p.T836I
KGN_OVARY	168099079	168108457	168100421	168100421	Missense_Mutation	G	A	p.R840K
NCIH1568_LUNG	168099079	168108457	168100430	168100430	Missense_Mutation	G	T	p.W843L
DSH1_URINARY_TRACT	168099079	168108457	168100465	168100465	Missense_Mutation	G	C	p.E855Q
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168100483	168100483	Missense_Mutation	T	G	p.S861A
SNU738_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168100667	168100667	Missense_Mutation	A	T	p.E922V
DU145_PROSTATE	168099079	168108457	168100705	168100705	Missense_Mutation	G	C	p.V935L
T3M10_LUNG	168099079	168108457	168100799	168100799	Missense_Mutation	T	C	p.I966T
IPC298_SKIN	168099079	168108457	168100807	168100807	Missense_Mutation	G	A	p.E969K
NCIBL2126_MATCHED_NORMAL_TISSUE	168099079	168108457	168100822	168100822	Missense_Mutation	G	A	p.G974S
NCIH2126_LUNG	168099079	168108457	168100822	168100822	Missense_Mutation	G	A	p.G974S
HARA_LUNG	168099079	168108457	168100828	168100828	Missense_Mutation	G	T	p.V976L
HCC2450_LUNG	168099079	168108457	168100846	168100846	Missense_Mutation	C	A	p.L982I
H4_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168100852	168100852	Missense_Mutation	G	A	p.E984K
NCIH1339_LUNG	168099079	168108457	168100917	168100917	Missense_Mutation	G	C	p.Q1005H
SW1463_LARGE_INTESTINE	168099079	168108457	168100943	168100943	Missense_Mutation	T	A	p.V1014E
NCIH23_LUNG	168099079	168108457	168100949	168100949	Missense_Mutation	G	T	p.S1016I
JMSU1_URINARY_TRACT	168099079	168108457	168100966	168100966	Missense_Mutation	G	C	p.E1022Q
NCIH650_LUNG	168099079	168108457	168100981	168100981	Missense_Mutation	G	A	p.D1027N
HMC18_BREAST	168099079	168108457	168100997	168100997	Missense_Mutation	G	A	p.S1032N
HCC2998_LARGE_INTESTINE	168099079	168108457	168101110	168101110	Missense_Mutation	T	G	p.F1070V
NCIH2110_LUNG	168099079	168108457	168101131	168101131	Missense_Mutation	G	C	p.E1077Q
NCIH1373_LUNG	168099079	168108457	168101161	168101161	Missense_Mutation	G	A	p.V1087I
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168101212	168101212	Missense_Mutation	G	A	p.E1104K
KM12_LARGE_INTESTINE	168099079	168108457	168101242	168101242	Missense_Mutation	A	G	p.T1114A
LB1047EBV_MATCHED_NORMAL_TISSUE	168099079	168108457	168101261	168101261	Missense_Mutation	A	G	p.H1120R
LB1047RCC_KIDNEY	168099079	168108457	168101261	168101261	Missense_Mutation	A	G	p.H1120R
KYSE50_OESOPHAGUS	168099079	168108457	168101287	168101288	Missense_Mutation	TG	CT	p.W1129L
NCIH1435_LUNG	168099079	168108457	168101325	168101325	Missense_Mutation	T	A	p.D1141E
SNU1076_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168101350	168101350	Missense_Mutation	C	A	p.Q1150K
HEC6_ENDOMETRIUM	168099079	168108457	168101370	168101370	Missense_Mutation	G	T	p.E1156D
MEWO_SKIN	168099079	168108457	168101380	168101380	Missense_Mutation	G	A	p.G1160R
KYAE1_OESOPHAGUS	168099079	168108457	168101383	168101383	Missense_Mutation	G	A	p.D1161N
HKA1_SKIN	168099079	168108457	168101416	168101416	Missense_Mutation	G	A	p.E1172K
HS944T_SKIN	168099079	168108457	168101452	168101452	Missense_Mutation	G	A	p.E1184K
HT115_LARGE_INTESTINE	168099079	168108457	168101534	168101534	Missense_Mutation	C	A	p.S1211Y
UACC893_BREAST	168099079	168108457	168101562	168101562	Missense_Mutation	G	C	p.L1220F
UDSCC2_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168101574	168101574	Missense_Mutation	A	T	p.K1224N
HCC2450_LUNG	168099079	168108457	168101588	168101588	Missense_Mutation	A	T	p.E1229V
2313287_STOMACH	168099079	168108457	168101621	168101621	Missense_Mutation	G	T	p.R1240M
C4I_CERVIX	168099079	168108457	168101690	168101690	Missense_Mutation	C	T	p.T1263M
HEC251_ENDOMETRIUM	168099079	168108457	168101742	168101742	Missense_Mutation	G	T	p.E1280D
NCIH2342_LUNG	168099079	168108457	168101755	168101755	Missense_Mutation	G	A	p.D1285N
NCIH1734_LUNG	168099079	168108457	168101804	168101804	Missense_Mutation	C	A	p.T1301N
5637_URINARY_TRACT	168099079	168108457	168101824	168101824	Missense_Mutation	G	A	p.D1308N
NCIH2810_PLEURA	168099079	168108457	168101903	168101903	Missense_Mutation	T	G	p.V1334G
CORL24_LUNG	168099079	168108457	168101921	168101921	Missense_Mutation	A	C	p.E1340A
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168101964	168101964	Missense_Mutation	T	A	p.F1354L
SNU81_LARGE_INTESTINE	168099079	168108457	168101984	168101984	Missense_Mutation	C	A	p.S1361Y
NCIH1944_LUNG	168099079	168108457	168102094	168102095	Missense_Mutation	CA	AG	p.Q1398R
MON_SOFT_TISSUE	168099079	168108457	168102096	168102096	Missense_Mutation	G	C	p.Q1398H
HEC251_ENDOMETRIUM	168099079	168108457	168102101	168102101	Missense_Mutation	C	A	p.S1400Y
NCIH23_LUNG	168099079	168108457	168102170	168102170	Missense_Mutation	A	T	p.Q1423L
HCC2998_LARGE_INTESTINE	168099079	168108457	168102190	168102190	Missense_Mutation	T	G	p.F1430V
BT483_BREAST	168099079	168108457	168102206	168102206	Missense_Mutation	A	G	p.Y1435C
YD38_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168102241	168102241	Missense_Mutation	G	A	p.G1447S
DU145_PROSTATE	168099079	168108457	168102260	168102260	Missense_Mutation	C	G	p.T1453S
SH10TC_STOMACH	168099079	168108457	168102341	168102341	Missense_Mutation	A	G	p.E1480G
NCIH2066_LUNG	168099079	168108457	168102344	168102344	Missense_Mutation	A	C	p.D1481A
NCIH650_LUNG	168099079	168108457	168102356	168102356	Missense_Mutation	G	T	p.G1485V
HEC251_ENDOMETRIUM	168099079	168108457	168102392	168102392	Missense_Mutation	G	A	p.R1497Q
HCC2998_LARGE_INTESTINE	168099079	168108457	168102392	168102392	Missense_Mutation	G	A	p.R1497Q
IGR1_SKIN	168099079	168108457	168102392	168102392	Missense_Mutation	G	A	p.R1497Q
SNU423_LIVER	168099079	168108457	168102394	168102394	Missense_Mutation	A	G	p.T1498A
HCC2998_LARGE_INTESTINE	168099079	168108457	168102434	168102434	Missense_Mutation	A	C	p.K1511T
MDAMB361_BREAST	168099079	168108457	168102463	168102463	Missense_Mutation	G	A	p.D1521N
DMS53_LUNG	168099079	168108457	168102463	168102463	Missense_Mutation	G	A	p.D1521N
SKMES1_LUNG	168099079	168108457	168102466	168102466	Missense_Mutation	G	T	p.V1522F
TE125T_FIBROBLAST	168099079	168108457	168102554	168102554	Missense_Mutation	G	A	p.S1551N
HCC2998_LARGE_INTESTINE	168099079	168108457	168102684	168102684	Missense_Mutation	G	T	p.E1594D
NCIH2291_LUNG	168099079	168108457	168102688	168102688	Missense_Mutation	C	G	p.Q1596E
NCIH1573_LUNG	168099079	168108457	168102688	168102689	Missense_Mutation	CA	TT	p.Q1596L
NCIH250_LUNG	168099079	168108457	168102708	168102708	Missense_Mutation	G	T	p.R1602S
MEWO_SKIN	168099079	168108457	168102729	168102729	Missense_Mutation	G	A	p.M1609I
A2780_OVARY	168099079	168108457	168102739	168102739	Missense_Mutation	C	G	p.L1613V
NCIH2172_LUNG	168099079	168108457	168102755	168102755	Missense_Mutation	G	A	p.C1618Y
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168102783	168102783	Missense_Mutation	A	C	p.E1627D
NO10_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168102838	168102838	Missense_Mutation	G	A	p.E1646K
NCIH2030_LUNG	168099079	168108457	168102844	168102844	Missense_Mutation	C	T	p.H1648Y
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168102895	168102895	Missense_Mutation	A	C	p.N1665H
SNU81_LARGE_INTESTINE	168099079	168108457	168102903	168102903	Missense_Mutation	C	A	p.F1667L
MCF7_BREAST	168099079	168108457	168102905	168102905	Missense_Mutation	C	T	p.S1668F
SNU478_BILIARY_TRACT	168099079	168108457	168102929	168102929	Missense_Mutation	G	A	p.G1676D
NCIH513_PLEURA	168099079	168108457	168102934	168102934	Missense_Mutation	T	G	p.L1678V
HKA1_SKIN	168099079	168108457	168102969	168102969	Missense_Mutation	G	A	p.M1689I
MM127_SKIN	168099079	168108457	168102991	168102991	Missense_Mutation	G	A	p.E1697K
NCIH1648_LUNG	168099079	168108457	168103015	168103015	Missense_Mutation	C	A	p.R1705S
HS936T_SKIN	168099079	168108457	168103024	168103024	Missense_Mutation	G	C	p.V1708L
GP2D_LARGE_INTESTINE	168099079	168108457	168103051	168103051	Missense_Mutation	A	G	p.I1717V
GP5D_LARGE_INTESTINE	168099079	168108457	168103051	168103051	Missense_Mutation	A	G	p.I1717V
HS940T_FIBROBLAST	168099079	168108457	168103070	168103070	Missense_Mutation	C	T	p.S1723F
JHUEM7_ENDOMETRIUM	168099079	168108457	168103090	168103090	Missense_Mutation	T	G	p.S1730A
HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168103097	168103097	Missense_Mutation	G	A	p.R1732K
KYSE140_OESOPHAGUS	168099079	168108457	168103121	168103121	Missense_Mutation	G	C	p.R1740T
NCIH1568_LUNG	168099079	168108457	168103142	168103142	Missense_Mutation	C	A	p.T1747K
NB1_AUTONOMIC_GANGLIA	168099079	168108457	168103168	168103168	Missense_Mutation	G	T	p.D1756Y
NCIH650_LUNG	168099079	168108457	168103190	168103190	Missense_Mutation	C	A	p.T1763K
HEC108_ENDOMETRIUM	168099079	168108457	168103264	168103264	Missense_Mutation	A	G	p.T1788A
BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168103282	168103282	Missense_Mutation	A	G	p.K1794E
LNCAPCLONEFGC_PROSTATE	168099079	168108457	168103290	168103290	Missense_Mutation	G	T	p.Q1796H
NCIH650_LUNG	168099079	168108457	168103290	168103290	Missense_Mutation	G	T	p.Q1796H
BB65EBV_MATCHED_NORMAL_TISSUE	168099079	168108457	168103336	168103336	Missense_Mutation	G	A	p.D1812N
BB65RCC_KIDNEY	168099079	168108457	168103336	168103336	Missense_Mutation	G	A	p.D1812N
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168103376	168103376	Missense_Mutation	A	G	p.Q1825R
LS411N_LARGE_INTESTINE	168099079	168108457	168103406	168103406	Missense_Mutation	A	C	p.E1835A
HCC2998_LARGE_INTESTINE	168099079	168108457	168103425	168103425	Missense_Mutation	G	T	p.L1841F
HCC1833_LUNG	168099079	168108457	168103427	168103427	Missense_Mutation	C	T	p.T1842I
NUGC2_STOMACH	168099079	168108457	168103433	168103433	Missense_Mutation	C	T	p.T1844I
TE10_OESOPHAGUS	168099079	168108457	168103433	168103433	Missense_Mutation	C	T	p.T1844I
MM370_SKIN	168099079	168108457	168103441	168103441	Missense_Mutation	T	A	p.S1847T
NCIH1836_LUNG	168099079	168108457	168103448	168103448	Missense_Mutation	G	T	p.S1849I
HEC251_ENDOMETRIUM	168099079	168108457	168103466	168103466	Missense_Mutation	A	G	p.K1855R
COLO792_SKIN	168099079	168108457	168103466	168103466	Missense_Mutation	A	G	p.K1855R
BICR31_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168103483	168103483	Missense_Mutation	G	A	p.E1861K
CAL12T_LUNG	168099079	168108457	168103516	168103516	Missense_Mutation	C	A	p.L1872I
NCIH1373_LUNG	168099079	168108457	168103541	168103541	Missense_Mutation	A	G	p.H1880R
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168103544	168103544	Missense_Mutation	G	A	p.R1881Q
NCIH460_LUNG	168099079	168108457	168103625	168103625	Missense_Mutation	C	A	p.T1908K
LB647SCLC_LUNG	168099079	168108457	168103629	168103629	Missense_Mutation	G	T	p.K1909N
HEC108_ENDOMETRIUM	168099079	168108457	168103646	168103646	Missense_Mutation	A	G	p.K1915R
HCC1569_BREAST	168099079	168108457	168103666	168103666	Missense_Mutation	C	A	p.L1922M
LS1034_LARGE_INTESTINE	168099079	168108457	168103678	168103678	Missense_Mutation	C	G	p.L1926V
HCC1833_LUNG	168099079	168108457	168103723	168103723	Missense_Mutation	A	G	p.K1941E
NCIH727_LUNG	168099079	168108457	168103759	168103759	Missense_Mutation	A	G	p.M1953V
SW780_URINARY_TRACT	168099079	168108457	168103769	168103769	Missense_Mutation	C	T	p.S1956F
RVH421_SKIN	168099079	168108457	168103791	168103791	Missense_Mutation	T	A	p.D1963E
NCIH1339_LUNG	168099079	168108457	168103858	168103858	Missense_Mutation	C	A	p.P1986T
HCC33_LUNG	168099079	168108457	168103859	168103859	Missense_Mutation	C	A	p.P1986Q
HS944T_SKIN	168099079	168108457	168103905	168103905	Missense_Mutation	G	A	p.M2001I
SNU407_LARGE_INTESTINE	168099079	168108457	168103907	168103907	Missense_Mutation	G	T	p.G2002V
JHUEM7_ENDOMETRIUM	168099079	168108457	168103940	168103940	Missense_Mutation	G	T	p.R2013I
NCIH1339_LUNG	168099079	168108457	168103978	168103978	Missense_Mutation	G	T	p.V2026L
HEC251_ENDOMETRIUM	168099079	168108457	168103996	168103996	Missense_Mutation	C	T	p.R2032C
LS123_LARGE_INTESTINE	168099079	168108457	168104014	168104014	Missense_Mutation	G	A	p.A2038T
JHU011_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168104072	168104072	Missense_Mutation	A	G	p.E2057G
SW1710_URINARY_TRACT	168099079	168108457	168104130	168104130	Missense_Mutation	T	A	p.D2076E
KOSC2_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168104195	168104195	Missense_Mutation	C	T	p.S2098L
HCC515_LUNG	168099079	168108457	168104200	168104200	Missense_Mutation	A	G	p.R2100G
SKMEL30_SKIN	168099079	168108457	168104203	168104203	Missense_Mutation	G	C	p.A2101P
NCIH650_LUNG	168099079	168108457	168104204	168104204	Missense_Mutation	C	A	p.A2101E
SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168104204	168104204	Missense_Mutation	C	A	p.A2101E
NCIH1623_LUNG	168099079	168108457	168104284	168104284	Missense_Mutation	G	A	p.E2128K
NCIH716_LARGE_INTESTINE	168099079	168108457	168104345	168104345	Missense_Mutation	A	C	p.K2148T
HCC56_LARGE_INTESTINE	168099079	168108457	168104350	168104350	Missense_Mutation	A	G	p.I2150V
EN_ENDOMETRIUM	168099079	168108457	168104381	168104381	Missense_Mutation	A	G	p.K2160R
LN464_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168104423	168104423	Missense_Mutation	G	A	p.G2174E
ACN_AUTONOMIC_GANGLIA	168099079	168108457	168104423	168104423	Missense_Mutation	G	A	p.G2174E
NCIH2286_LUNG	168099079	168108457	168104426	168104426	Missense_Mutation	C	A	p.T2175N
NCIH23_LUNG	168099079	168108457	168104435	168104435	Missense_Mutation	T	A	p.L2178H
MDAMB453_BREAST	168099079	168108457	168104633	168104633	Missense_Mutation	C	G	p.T2244S
NCIH358_LUNG	168099079	168108457	168104643	168104643	Missense_Mutation	C	A	p.H2247Q
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168104771	168104771	Missense_Mutation	C	T	p.P2290L
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168104813	168104813	Missense_Mutation	C	T	p.S2304F
IGR39_SKIN	168099079	168108457	168104827	168104827	Missense_Mutation	C	T	p.P2309S
IGR37_SKIN	168099079	168108457	168104827	168104827	Missense_Mutation	C	T	p.P2309S
NCIH322_LUNG	168099079	168108457	168104840	168104840	Missense_Mutation	C	A	p.P2313Q
MCC142_SKIN	168099079	168108457	168104872	168104872	Missense_Mutation	G	A	p.G2324R
NCIH513_PLEURA	168099079	168108457	168104882	168104882	Missense_Mutation	C	A	p.P2327H
SNU1040_LARGE_INTESTINE	168099079	168108457	168104896	168104896	Missense_Mutation	G	A	p.E2332K
MM386_SKIN	168099079	168108457	168104911	168104911	Missense_Mutation	G	A	p.E2337K
COLO792_SKIN	168099079	168108457	168104917	168104917	Missense_Mutation	G	A	p.E2339K
HCC2998_LARGE_INTESTINE	168099079	168108457	168104923	168104923	Missense_Mutation	T	G	p.F2341V
MEWO_SKIN	168099079	168108457	168104935	168104935	Missense_Mutation	C	T	p.P2345S
NCIH1155_LUNG	168099079	168108457	168104974	168104974	Missense_Mutation	G	C	p.E2358Q
JHUEM7_ENDOMETRIUM	168099079	168108457	168104989	168104989	Missense_Mutation	T	A	p.F2363I
NCIH2347_LUNG	168099079	168108457	168105005	168105005	Missense_Mutation	C	A	p.P2368H
HCC33_LUNG	168099079	168108457	168105092	168105092	Missense_Mutation	C	A	p.S2397Y
COLO792_SKIN	168099079	168108457	168105143	168105143	Missense_Mutation	G	A	p.G2414E
MEWO_SKIN	168099079	168108457	168105143	168105143	Missense_Mutation	G	A	p.G2414E
PANC0813_PANCREAS	168099079	168108457	168105149	168105149	Missense_Mutation	C	A	p.T2416N
SN12C_KIDNEY	168099079	168108457	168105164	168105164	Missense_Mutation	C	A	p.P2421H
ISTSL2_LUNG	168099079	168108457	168105199	168105199	Missense_Mutation	A	G	p.I2433V
MEWO_SKIN	168099079	168108457	168105217	168105217	Missense_Mutation	G	A	p.D2439N
SW684_SOFT_TISSUE	168099079	168108457	168105217	168105217	Missense_Mutation	G	A	p.D2439N
BFTC905_URINARY_TRACT	168099079	168108457	168105218	168105218	Missense_Mutation	A	G	p.D2439G
PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168105304	168105304	Missense_Mutation	G	C	p.V2468L
A101D_SKIN	168099079	168108457	168105315	168105315	Missense_Mutation	C	G	p.S2471R
HS294T_SKIN	168099079	168108457	168105315	168105315	Missense_Mutation	C	G	p.S2471R
NCIH1793_LUNG	168099079	168108457	168105317	168105317	Missense_Mutation	G	T	p.S2472I
FADU_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168105332	168105332	Missense_Mutation	C	A	p.T2477K
SKMEL5_SKIN	168099079	168108457	168105464	168105464	Missense_Mutation	C	T	p.S2521F
COLO783_SKIN	168099079	168108457	168105466	168105466	Missense_Mutation	C	T	p.H2522Y
MCC13_SKIN	168099079	168108457	168105470	168105470	Missense_Mutation	C	T	p.S2523L
HCT15_LARGE_INTESTINE	168099079	168108457	168105479	168105479	Missense_Mutation	A	C	p.E2526A
MM127_SKIN	168099079	168108457	168105485	168105485	Missense_Mutation	C	T	p.S2528L
JHUEM7_ENDOMETRIUM	168099079	168108457	168105515	168105515	Missense_Mutation	G	T	p.R2538I
NCIH1930_LUNG	168099079	168108457	168105664	168105664	Missense_Mutation	C	A	p.P2588T
NCIH1573_LUNG	168099079	168108457	168105737	168105737	Missense_Mutation	C	A	p.P2612Q
MEWO_SKIN	168099079	168108457	168105757	168105757	Missense_Mutation	C	T	p.R2619W
SW684_SOFT_TISSUE	168099079	168108457	168105802	168105802	Missense_Mutation	C	T	p.P2634S
SW156_KIDNEY	168099079	168108457	168105824	168105824	Missense_Mutation	G	C	p.R2641T
EN_ENDOMETRIUM	168099079	168108457	168105851	168105851	Missense_Mutation	A	G	p.E2650G
MERO83_LUNG	168099079	168108457	168105858	168105858	Missense_Mutation	A	C	p.K2652N
HEC108_ENDOMETRIUM	168099079	168108457	168105901	168105901	Missense_Mutation	A	G	p.M2667V
HCC2450_LUNG	168099079	168108457	168105917	168105917	Missense_Mutation	C	T	p.A2672V
HCC2450_LUNG	168099079	168108457	168105919	168105919	Missense_Mutation	T	G	p.C2673G
JHUEM7_ENDOMETRIUM	168099079	168108457	168105922	168105922	Missense_Mutation	G	A	p.E2674K
KYSE150_OESOPHAGUS	168099079	168108457	168105922	168105922	Missense_Mutation	G	A	p.E2674K
SNU1040_LARGE_INTESTINE	168099079	168108457	168105922	168105922	Missense_Mutation	G	A	p.E2674K
NCIH2291_LUNG	168099079	168108457	168105958	168105958	Missense_Mutation	C	A	p.Q2686K
A673_BONE	168099079	168108457	168105998	168105998	Missense_Mutation	C	G	p.P2699R
NCIH2342_LUNG	168099079	168108457	168106044	168106044	Missense_Mutation	A	C	p.K2714N
MM370_SKIN	168099079	168108457	168106072	168106072	Missense_Mutation	G	A	p.E2724K
COGN278_AUTONOMIC_GANGLIA	168099079	168108457	168106199	168106199	Missense_Mutation	T	C	p.L2766P
SNU719_STOMACH	168099079	168108457	168106253	168106253	Missense_Mutation	T	G	p.L2784W
NCIH28_PLEURA	168099079	168108457	168106255	168106255	Missense_Mutation	C	G	p.P2785A
COLO792_SKIN	168099079	168108457	168106316	168106316	Missense_Mutation	G	A	p.R2805K
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168106318	168106318	Missense_Mutation	G	A	p.E2806K
COLO792_SKIN	168099079	168108457	168106318	168106318	Missense_Mutation	G	A	p.E2806K
HCC2998_LARGE_INTESTINE	168099079	168108457	168106348	168106348	Missense_Mutation	C	T	p.P2816S
NCIH1105_LUNG	168099079	168108457	168106376	168106376	Missense_Mutation	C	T	p.P2825L
NCIH1993_LUNG	168099079	168108457	168106459	168106459	Missense_Mutation	G	T	p.V2853F
WM2664_SKIN	168099079	168108457	168106477	168106477	Missense_Mutation	G	A	p.D2859N
WM115_SKIN	168099079	168108457	168106477	168106477	Missense_Mutation	G	A	p.D2859N
NCIH1838_LUNG	168099079	168108457	168106567	168106568	Missense_Mutation	CC	GA	p.P2889E
HEC251_ENDOMETRIUM	168099079	168108457	168106600	168106600	Missense_Mutation	G	A	p.E2900K
U118MG_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168106621	168106621	Missense_Mutation	A	G	p.K2907E
OCUBM_BREAST	168099079	168108457	168106754	168106754	Missense_Mutation	G	A	p.R2951H
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168106873	168106873	Missense_Mutation	G	T	p.D2991Y
LNCAPCLONEFGC_PROSTATE	168099079	168108457	168106964	168106964	Missense_Mutation	A	G	p.D3021G
SARC9371_BONE	168099079	168108457	168107030	168107030	Missense_Mutation	G	A	p.G3043E
HEC251_ENDOMETRIUM	168099079	168108457	168107047	168107047	Missense_Mutation	C	A	p.L3049I
DU145_PROSTATE	168099079	168108457	168107097	168107097	Missense_Mutation	A	T	p.K3065N
EKVX_LUNG	168099079	168108457	168107104	168107104	Missense_Mutation	G	A	p.E3068K
SH10TC_STOMACH	168099079	168108457	168107109	168107109	Missense_Mutation	G	T	p.Q3069H
LN215_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168107138	168107138	Missense_Mutation	C	A	p.T3079K
HCT15_LARGE_INTESTINE	168099079	168108457	168107183	168107183	Missense_Mutation	G	T	p.S3094I
BICR22_UPPER_AERODIGESTIVE_TRACT	168099079	168108457	168107252	168107252	Missense_Mutation	G	A	p.R3117H
HEC265_ENDOMETRIUM	168099079	168108457	168107271	168107271	Missense_Mutation	T	A	p.F3123L
SNUC4_LARGE_INTESTINE	168099079	168108457	168107291	168107291	Missense_Mutation	C	T	p.A3130V
JHUEM7_ENDOMETRIUM	168099079	168108457	168107297	168107297	Missense_Mutation	G	A	p.R3132Q
MCC13_SKIN	168099079	168108457	168107335	168107335	Missense_Mutation	C	T	p.P3145S
NCIH748_LUNG	168099079	168108457	168107336	168107336	Missense_Mutation	C	G	p.P3145R
A253_SALIVARY_GLAND	168099079	168108457	168107366	168107366	Missense_Mutation	C	A	p.P3155Q
NCIH2227_LUNG	168099079	168108457	168107414	168107414	Missense_Mutation	C	G	p.S3171C
CALU6_LUNG	168099079	168108457	168107435	168107435	Missense_Mutation	G	T	p.R3178L
HT115_LARGE_INTESTINE	168099079	168108457	168107566	168107566	Missense_Mutation	C	T	p.R3222C
NCC010_KIDNEY	168099079	168108457	168107566	168107566	Missense_Mutation	C	A	p.R3222S
CHLA99_BONE	168099079	168108457	168107582	168107582	Missense_Mutation	T	G	p.I3227R
NCIH1573_LUNG	168099079	168108457	168107591	168107591	Missense_Mutation	G	A	p.R3230H
JHH1_LIVER	168099079	168108457	168107624	168107624	Missense_Mutation	C	A	p.P3241Q
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168107660	168107660	Missense_Mutation	G	T	p.R3253I
ISTMEL1_SKIN	168099079	168108457	168107683	168107683	Missense_Mutation	G	A	p.E3261K
NCIH23_LUNG	168099079	168108457	168107791	168107791	Missense_Mutation	C	A	p.R3297S
HEC251_ENDOMETRIUM	168099079	168108457	168107852	168107852	Missense_Mutation	G	A	p.R3317Q
SKMEL1_SKIN	168099079	168108457	168107852	168107852	Missense_Mutation	G	A	p.R3317Q
NCIH23_LUNG	168099079	168108457	168107884	168107884	Missense_Mutation	G	T	p.D3328Y
A549_LUNG	168099079	168108457	168107887	168107887	Missense_Mutation	C	A	p.P3329T
JHU028_LUNG	168099079	168108457	168107887	168107887	Missense_Mutation	C	A	p.P3329T
NCIH510_LUNG	168099079	168108457	168107903	168107903	Missense_Mutation	A	T	p.N3334I
NCIH2342_LUNG	168099079	168108457	168107984	168107984	Missense_Mutation	A	T	p.N3361I
HCC15_LUNG	168099079	168108457	168107986	168107986	Missense_Mutation	C	G	p.H3362D
MCC13_SKIN	168099079	168108457	168108025	168108025	Missense_Mutation	G	A	p.E3375K
HCC2108_LUNG	168099079	168108457	168108055	168108055	Missense_Mutation	A	G	p.S3385G
MORCPR_LUNG	168099079	168108457	168108055	168108055	Missense_Mutation	A	G	p.S3385G
JHUEM7_ENDOMETRIUM	168099079	168108457	168108071	168108071	Missense_Mutation	C	A	p.S3390Y
CORL88_LUNG	168099079	168108457	168108089	168108089	Missense_Mutation	A	T	p.E3396V
MCF7_BREAST	168099079	168108457	168108125	168108125	Missense_Mutation	T	C	p.I3408T
CAL148_BREAST	168099079	168108457	168108159	168108159	Missense_Mutation	C	G	p.F3419L
NCIH441_LUNG	168099079	168108457	168108180	168108180	Missense_Mutation	G	C	p.E3426D
HS888T_FIBROBLAST	168099079	168108457	168108230	168108230	Missense_Mutation	A	T	p.E3443V
MM127_SKIN	168099079	168108457	168108235	168108235	Missense_Mutation	G	A	p.G3445S
HEC59_ENDOMETRIUM	168099079	168108457	168108339	168108339	Missense_Mutation	T	A	p.N3479K
KYSE70_OESOPHAGUS	168099079	168108457	168108367	168108367	Missense_Mutation	A	G	p.R3489G
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168096365	168096475	168096398	168096398	Nonsense_Mutation	A	T	p.R331*
CW2_LARGE_INTESTINE	168096365	168096475	168096428	168096428	Nonsense_Mutation	C	T	p.Q341*
HCC1599_BREAST	168099079	168108457	168099638	168099638	Nonsense_Mutation	G	A	p.W579*
IPC298_SKIN	168099079	168108457	168099870	168099870	Nonsense_Mutation	G	A	p.W656*
SNU478_BILIARY_TRACT	168099079	168108457	168099896	168099896	Nonsense_Mutation	C	G	p.S665*
NCIH322_LUNG	168099079	168108457	168099997	168099997	Nonsense_Mutation	C	T	p.Q699*
DMS79_LUNG	168099079	168108457	168100159	168100159	Nonsense_Mutation	G	T	p.E753*
MCC13_SKIN	168099079	168108457	168100643	168100643	Nonsense_Mutation	G	A	p.W914*
EKVX_LUNG	168099079	168108457	168101049	168101050	Nonsense_Mutation	TG	CT	p.G1050*
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168101579	168101579	Nonsense_Mutation	T	A	p.L1226*
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	168099079	168108457	168101809	168101809	Nonsense_Mutation	G	T	p.E1303*
JHUEM7_ENDOMETRIUM	168099079	168108457	168102538	168102538	Nonsense_Mutation	G	T	p.E1546*
GAMG_CENTRAL_NERVOUS_SYSTEM	168099079	168108457	168102559	168102559	Nonsense_Mutation	A	T	p.K1553*
JHUEM7_ENDOMETRIUM	168099079	168108457	168102643	168102643	Nonsense_Mutation	C	T	p.R1581*
HCC2998_LARGE_INTESTINE	168099079	168108457	168102643	168102643	Nonsense_Mutation	C	T	p.R1581*
LCLC103H_LUNG	168099079	168108457	168102766	168102766	Nonsense_Mutation	G	T	p.E1622*
HEC251_ENDOMETRIUM	168099079	168108457	168103201	168103201	Nonsense_Mutation	G	T	p.E1767*
JHUEM7_ENDOMETRIUM	168099079	168108457	168103531	168103531	Nonsense_Mutation	G	T	p.E1877*
LS411N_LARGE_INTESTINE	168099079	168108457	168103547	168103547	Nonsense_Mutation	G	A	p.W1882*
HT115_LARGE_INTESTINE	168099079	168108457	168104191	168104191	Nonsense_Mutation	G	T	p.E2097*
ME180_CERVIX	168099079	168108457	168104438	168104438	Nonsense_Mutation	C	A	p.S2179*
NCIH2347_LUNG	168099079	168108457	168105616	168105616	Nonsense_Mutation	A	T	p.K2572*
KYM1_SOFT_TISSUE	168099079	168108457	168105670	168105670	Nonsense_Mutation	C	T	p.Q2590*
ECGI10_OESOPHAGUS	168099079	168108457	168105848	168105848	Nonsense_Mutation	C	G	p.S2649*
JEG3_PLACENTA	168099079	168108457	168106253	168106253	Nonsense_Mutation	T	A	p.L2784*
SW403_LARGE_INTESTINE	168099079	168108457	168106261	168106261	Nonsense_Mutation	G	T	p.E2787*
HEC251_ENDOMETRIUM	168099079	168108457	168106390	168106390	Nonsense_Mutation	C	T	p.R2830*
SW1463_LARGE_INTESTINE	168099079	168108457	168107819	168107819	Nonsense_Mutation	C	A	p.S3306*
NCIH1944_LUNG	168099079	168108457	168107869	168107869	Nonsense_Mutation	G	T	p.E3323*
HEC251_ENDOMETRIUM	168099079	168108457	168108088	168108088	Nonsense_Mutation	G	T	p.E3396*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for XIRP2

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XIRP2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XIRP2

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RelatedDrugs for XIRP2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for XIRP2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for XIRP2

Exon skipping events across known transcript of Ensembl for XIRP2 from UCSC genome browser

Gene isoform structures and expression levels for XIRP2

Exon skipping events with PSIs in TCGA for XIRP2

Exon skipping events with PSIs in GTEx for XIRP2

Open reading frame (ORF) annotation in the exon skipping event for XIRP2

Infer the effects of exon skipping event on protein functional features for XIRP2

SNVs in the skipped exons for XIRP2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for XIRP2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XIRP2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XIRP2

RelatedDrugs for XIRP2

RelatedDiseases for XIRP2