#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	49	0	0	0	1	0	4	49				
BFAR	51283	broad.mit.edu	37	16	14761536	14761536	+	Missense_Mutation	SNP	C	C	T	rs547915921		TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:14761536C>T	ENST00000261658.2	+	8	1482	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	402					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AAAGTATCAACGCAGGGGCTT	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18312	0.0		0.0	False		,,,				2504	0.0					ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(1204-1206)aCg>aTg		bifunctional apoptosis regulator							141.0	139.0	140.0					16																	14761536		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14761536C>T	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1205C>T	16.37:g.14761536C>T	ENSP00000261658:p.Thr402Met					BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M|BFAR_ENST00000563082.1_3'UTR	p.T402M	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			8	1482	+			402					A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.1205C>T	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787573	0.90367	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.49720	3.11;0.77	5.69	5.69	0.88448	.	0.054362	0.85682	D	0.000000	T	0.56062	0.1960	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.64506	0.849;0.926;0.926	T	0.60219	-0.7306	10	0.87932	D	0	.	18.7875	0.91961	0.0:1.0:0.0:0.0	.	274;402;402	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	M	402;274	ENSP00000261658:T402M;ENSP00000400634:T274M	ENSP00000261658:T402M	T	+	2	0	BFAR	14669037	1.000000	0.71417	0.720000	0.30636	0.982000	0.71751	5.799000	0.69101	2.673000	0.90976	0.563000	0.77884	ACG		0.488	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		49	100	0	0	0	1	0	49	100				
ACTL6B	51412	broad.mit.edu	37	7	100244387	100244387	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr7:100244387A>G	ENST00000160382.5	-	11	1110	c.1004T>C	c.(1003-1005)aTt>aCt	p.I335T		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	335					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGAATATCAATGTCACACAT	0.667																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(1003-1005)aTt>aCt		actin-like 6B							50.0	48.0	49.0					7																	100244387		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100244387A>G	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.1004T>C	7.37:g.100244387A>G	ENSP00000160382:p.Ile335Thr						p.I335T	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			11	1110	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		335					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.1004T>C	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169330	0.38315	.	.	ENSG00000077080	ENST00000160382	D	0.94576	-3.46	5.56	3.07	0.35406	.	0.067694	0.53938	D	0.000049	D	0.92805	0.7712	M	0.77486	2.375	0.49582	D	0.9998	B	0.29378	0.243	B	0.27262	0.078	D	0.89118	0.3501	10	0.87932	D	0	.	9.1934	0.37213	0.7132:0.0:0.0:0.2868	.	335	O94805	ACL6B_HUMAN	T	335	ENSP00000160382:I335T	ENSP00000160382:I335T	I	-	2	0	ACTL6B	100082323	1.000000	0.71417	0.912000	0.35992	0.954000	0.61252	8.637000	0.91014	0.347000	0.23924	0.533000	0.62120	ATT		0.667	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		5	49	0	0	0	1	0	5	49				
SLC27A3	11000	broad.mit.edu	37	1	153750999	153750999	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr1:153750999C>G	ENST00000368661.3	+	6	1623	c.1558C>G	c.(1558-1560)Ccc>Gcc	p.P520A	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.P601A	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	520					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATTCGGGACCCCCAGGGGCA	0.577																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(1801-1803)Ccc>Gcc		solute carrier family 27 (fatty acid transporter), member 3							107.0	108.0	108.0					1																	153750999		2203	4300	6503	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153750999C>G	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1558C>G	1.37:g.153750999C>G	ENSP00000357650:p.Pro520Ala					SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.P520A	p.P601A			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	2561	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		520					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.1801C>G	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.318071	0.00235	.	.	ENSG00000143554	ENST00000271857;ENST00000368661;ENST00000532853	T;T;T	0.46063	2.72;2.72;0.88	5.01	-3.96	0.04106	AMP-dependent synthetase/ligase (1);	1.071620	0.07225	N	0.861444	T	0.05502	0.0145	N	0.05592	-0.015	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.31696	-0.9934	10	0.15066	T	0.55	-1.2619	6.1815	0.20474	0.2833:0.3715:0.3451:0.0	.	520	Q5K4L6	S27A3_HUMAN	A	601;520;74	ENSP00000271857:P601A;ENSP00000357650:P520A;ENSP00000433959:P74A	ENSP00000271857:P601A	P	+	1	0	SLC27A3	152017623	0.000000	0.05858	0.001000	0.08648	0.116000	0.19942	-0.593000	0.05740	-1.039000	0.03275	-0.539000	0.04255	CCC		0.577	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		8	104	0	0	0	1	0	8	104				
RAPGEF6	51735	broad.mit.edu	37	5	130846180	130846180	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr5:130846180G>A	ENST00000509018.1	-	8	837	c.632C>T	c.(631-633)aCg>aTg	p.T211M	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T211M|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T211M|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T211M|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T261M|RAPGEF6_ENST00000512052.1_5'Flank	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	211					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTCACTCTCCGTAGCCTATGA	0.368																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(631-633)aCg>aTg		Rap guanine nucleotide exchange factor (GEF) 6							98.0	93.0	95.0					5																	130846180		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130846180G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.632C>T	5.37:g.130846180G>A	ENSP00000421684:p.Thr211Met					RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T211M|FNIP1_ENST00000514667.1_Missense_Mutation_p.T261M|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T211M|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T211M	p.T211M	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	8	837	-			211					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.632C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651775	0.88056	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000504575;ENST00000504039;ENST00000514667	T;T;T;T;T;T;T;T	0.47869	1.77;1.69;1.69;1.77;1.61;2.17;0.83;1.87	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.99;0.997;0.996;0.997;0.998;0.997	T	0.71444	-0.4591	10	0.87932	D	0	.	19.359	0.94428	0.0:0.0:1.0:0.0	.	211;211;211;261;211;211	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	M	211;211;211;211;211;211;211;39;64;64;261	ENSP00000421684:T211M;ENSP00000309298:T211M;ENSP00000426081:T211M;ENSP00000296859:T211M;ENSP00000311419:T211M;ENSP00000425389:T211M;ENSP00000424574:T39M;ENSP00000426948:T261M	ENSP00000426948:T261M	T	-	2	0	RAPGEF6;FNIP1	130874079	1.000000	0.71417	0.995000	0.50966	0.850000	0.48378	9.813000	0.99286	2.657000	0.90304	0.563000	0.77884	ACG		0.368	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		6	75	0	0	0	1	0	6	75				
NOTCH4	4855	broad.mit.edu	37	6	32163439	32163439	+	Silent	SNP	T	T	A			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr6:32163439T>A	ENST00000375023.3	-	30	5925	c.5787A>T	c.(5785-5787)atA>atT	p.I1929I	GPSM3_ENST00000375040.3_5'Flank|GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000487761.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1929					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTCCTCGCATTATCGCAGGGT	0.667																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5785-5787)atA>atT		notch 4							69.0	72.0	71.0					6																	32163439		1510	2707	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163439T>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5787A>T	6.37:g.32163439T>A						NOTCH4_ENST00000443903.2_3'UTR	p.I1929I	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	5925	-			1929					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5787A>T	CCDS34420.1																																																																																				0.667	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			11	89	0	0	0	1	0	11	89				
LOC401127	401127	broad.mit.edu	37	4	39483038	39483038	+	RNA	SNP	C	C	T	rs16995316	byFrequency	TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr4:39483038C>T	ENST00000513652.1	+	0	1045																											TCACCTCTGCCGCGCTAGAAA	0.453													C|||	196	0.0391374	0.0764	0.0303	5008	,	,		19711	0.0		0.0686	False		,,,				2504	0.0051					ENST00000513652.1																			0																																																			0							g.chr4:39483038C>T																													4.37:g.39483038C>T														0	1045	+									RNA	SNP	ENST00000513652.1	37																																																																																						0.453	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			5	55	0	0	0	1	0	5	55				
KIAA2018	205717	broad.mit.edu	37	3	113374352	113374352	+	Silent	SNP	T	T	C			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:113374352T>C	ENST00000478658.1	-	5	6194	c.6177A>G	c.(6175-6177)ctA>ctG	p.L2059L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.L2059L			Q68DE3	K2018_HUMAN	KIAA2018	2059						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AATTTTGTGATAGTGTATGCT	0.418																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(6175-6177)ctA>ctG		KIAA2018							79.0	79.0	79.0					3																	113374352		1923	4117	6040	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374352T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.6177A>G	3.37:g.113374352T>C						KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.L2059L	p.L2059L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	6587	-			2059					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.6177A>G	CCDS43133.1																																																																																				0.418	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	103	0	0	0	1	0	5	103				
WASH3P	374666	broad.mit.edu	37	15	102515257	102515257	+	RNA	SNP	C	C	T	rs74969461	byFrequency	TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr15:102515257C>T	ENST00000557932.1	+	0	1103				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCCGGTGGCCGGGCCACTCT	0.647																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515257C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515257C>T														0	1103	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	N	0.940	-0.709821	0.03230	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.058881	0.64402	N	0.000002	T	0.35508	0.0934	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32719	-0.9896	4	.	.	.	-10.605	4.2952	0.10897	0.3925:0.6075:0.0:0.0	.	.	.	.	W	369;360	.	.	R	+	1	2	WASH3P	100332780	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	2.970000	0.49240	0.863000	0.35553	0.184000	0.17185	CGG		0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	8	0	0	0	1	0	3	8				
TSGA10	80705	broad.mit.edu	37	2	99767210	99767210	+	Intron	SNP	T	T	C			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr2:99767210T>C	ENST00000393483.3	-	1	225				C2ORF15_ENST00000409684.1_Silent_p.T97T|C2ORF15_ENST00000302513.2_Silent_p.T97T	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGAAGGGACTGGCACAGGAT	0.388																																						ENST00000302513.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(289-291)acT>acC		chromosome 2 open reading frame 15							93.0	96.0	95.0					2																	99767210		2203	4300	6503	SO:0001627	intron_variant	150590							g.chr2:99767210T>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+3945A>G	2.37:g.99767210T>C						TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Silent_p.T97T	p.T97T	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN			4	927	+			97					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Silent	SNP	ENST00000393483.3	37	c.291T>C	CCDS2037.1																																																																																				0.388	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		10	92	0	0	0	1	0	10	92				
TEAD1	7003	broad.mit.edu	37	11	12785928	12785928	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr11:12785928A>G	ENST00000527575.1	+	2	262	c.149A>G	c.(148-150)tAt>tGt	p.Y50C	TEAD1_ENST00000361905.4_Missense_Mutation_p.Y35C|TEAD1_ENST00000361985.2_Missense_Mutation_p.Y50C|TEAD1_ENST00000527636.1_Missense_Mutation_p.Y50C|TEAD1_ENST00000334310.6_Missense_Mutation_p.Y35C			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	50					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTGGCTATCTATCCACCATGT	0.478																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(103-105)tAt>tGt		TEA domain family member 1 (SV40 transcriptional enhancer factor)							92.0	92.0	92.0					11																	12785928		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12785928A>G	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.149A>G	11.37:g.12785928A>G	ENSP00000435977:p.Tyr50Cys					TEAD1_ENST00000334310.6_Missense_Mutation_p.Y35C|TEAD1_ENST00000361985.2_Missense_Mutation_p.Y50C|TEAD1_ENST00000527636.1_Missense_Mutation_p.Y50C|TEAD1_ENST00000527575.1_Missense_Mutation_p.Y50C	p.Y35C	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	3	769	+			50					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000527575.1	37	c.104A>G		.	.	.	.	.	.	.	.	.	.	A	26.2	4.717076	0.89205	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527376;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.51	5.51	0.81932	.	0.064977	0.64402	D	0.000005	T	0.69940	0.3167	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79045	-0.1964	10	0.87932	D	0	-9.928	15.5927	0.76550	1.0:0.0:0.0:0.0	.	50	P28347	TEAD1_HUMAN	C	35;50;50;50;35;50	ENSP00000355332:Y35C;ENSP00000435233:Y50C;ENSP00000432587:Y50C;ENSP00000435977:Y50C;ENSP00000334754:Y35C;ENSP00000354588:Y50C	ENSP00000334754:Y35C	Y	+	2	0	TEAD1	12742504	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.287000	0.95975	2.217000	0.71921	0.482000	0.46254	TAT		0.478	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961		11	92	0	0	0	1	0	11	92				
ADPGK	83440	broad.mit.edu	37	15	73044692	73044692	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr15:73044692G>A	ENST00000311669.8	-	7	1574	c.1481C>T	c.(1480-1482)cCt>cTt	p.P494L	ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	495	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTAATAGTGAGGGTGTACTTC	0.433																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1480-1482)cCt>cTt		ADP-dependent glucokinase							41.0	39.0	40.0					15																	73044692		1838	4086	5924	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73044692G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1481C>T	15.37:g.73044692G>A	ENSP00000312250:p.Pro494Leu					ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L	p.P494L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1574	-			495			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1481C>T	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255531	0.80135	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471	T	0.44881	0.91	5.63	4.72	0.59763	.	0.276116	0.43919	D	0.000515	T	0.26629	0.0651	N	0.22421	0.69	0.43448	D	0.995634	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.002	T	0.06463	-1.0825	10	0.09338	T	0.73	-10.1017	12.5046	0.55973	0.1385:0.0:0.8615:0.0	.	437;495;494;220	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	L	494;414;220	ENSP00000312250:P494L	ENSP00000312250:P494L	P	-	2	0	ADPGK	70831745	1.000000	0.71417	0.033000	0.17914	0.551000	0.35334	4.948000	0.63590	1.390000	0.46547	-0.136000	0.14681	CCT		0.433	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		15	35	0	0	0	1	0	15	35				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	50	0	0	0	1	0	33	50				
SENP2	59343	broad.mit.edu	37	3	185327074	185327074	+	Silent	SNP	T	T	C			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:185327074T>C	ENST00000296257.5	+	7	898	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	SENP2_ENST00000545472.1_Silent_p.L210L|SENP2_ENST00000427465.2_Silent_p.L44L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	220					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCGAAAGTTATTGGAACGACT	0.358																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(658-660)Ttg>Ctg		SUMO1/sentrin/SMT3 specific peptidase 2							114.0	115.0	115.0					3																	185327074		2203	4300	6503	SO:0001819	synonymous_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185327074T>C	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.658T>C	3.37:g.185327074T>C						SENP2_ENST00000545472.1_Silent_p.L210L|SENP2_ENST00000427465.2_Silent_p.L44L	p.L220L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		7	898	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		220					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	c.658T>C	CCDS33902.1																																																																																				0.358	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		35	55	0	0	0	1	0	35	55				
KIF19	124602	broad.mit.edu	37	17	72340946	72340946	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr17:72340946C>T	ENST00000389916.4	+	7	767	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	210	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCCAGGAGCCCACGGCCGCC	0.667																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(628-630)cCc>cTc		kinesin family member 19							36.0	40.0	39.0					17																	72340946		2201	4297	6498	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72340946C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.629C>T	17.37:g.72340946C>T	ENSP00000374566:p.Pro210Leu						p.P210L	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			7	767	+			210			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.629C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	32	5.105984	0.94292	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74737	-0.87;-0.87	5.49	5.49	0.81192	Kinesin, motor domain (4);	.	.	.	.	D	0.85737	0.5766	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.963;0.963	D;D;P;P	0.74348	0.983;0.957;0.835;0.864	D	0.86952	0.2086	9	0.87932	D	0	.	18.1998	0.89834	0.0:1.0:0.0:0.0	.	210;168;168;210	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	L	168;210	ENSP00000449134:P168L;ENSP00000374566:P210L	ENSP00000374566:P210L	P	+	2	0	KIF19	69852541	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	7.383000	0.79741	2.595000	0.87683	0.556000	0.70494	CCC		0.667	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		6	41	0	0	0	1	0	6	41				
RGPD4	285190	broad.mit.edu	37	2	108488523	108488523	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr2:108488523A>G	ENST00000408999.3	+	20	4140	c.4063A>G	c.(4063-4065)Aaa>Gaa	p.K1355E	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1355	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAATGAAAAAGTTGTTTT	0.363																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4063-4065)Aaa>Gaa		RANBP2-like and GRIP domain containing 4							46.0	32.0	37.0					2																	108488523		692	1590	2282	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488523A>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4063A>G	2.37:g.108488523A>G	ENSP00000386810:p.Lys1355Glu					RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E	p.K1355E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4140	+			1355			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4063A>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.076809	0.00375	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.38240	1.15;1.15	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.09379	0.0231	N	0.00514	-1.41	0.21445	N	0.999688	B	0.09022	0.002	B	0.11329	0.006	T	0.33059	-0.9883	9	0.02654	T	1	-15.6262	9.1598	0.37016	0.2196:0.7804:0.0:0.0	.	1355	Q7Z3J3	RGPD4_HUMAN	E	1355	ENSP00000347081:K1355E;ENSP00000386810:K1355E	ENSP00000347081:K1355E	K	+	1	0	RGPD4	107854955	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.773000	0.55333	0.317000	0.23160	-2.054000	0.00404	AAA		0.363	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		27	184	0	0	0	1	0	27	184				
NXNL1	115861	broad.mit.edu	37	19	17571489	17571489	+	Missense_Mutation	SNP	C	C	T	rs150719211	byFrequency	TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:17571489C>T	ENST00000301944.2	-	1	274	c.190G>A	c.(190-192)Gag>Aag	p.E64K	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	64	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ACATAGAACTCATCTGTGAGC	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		17461	0.0		0.002	False		,,,				2504	0.0					ENST00000301944.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6	GRCh37	CM067483	NXNL1	M	rs150719211	c.(190-192)Gag>Aag		nucleoredoxin-like 1		C	LYS/GLU	4,4402	9.9+/-24.2	0,4,2199	77.0	72.0	74.0		190	3.9	1.0	19	dbSNP_134	74	28,8572	19.8+/-62.0	0,28,4272	yes	missense	NXNL1	NM_138454.1	56	0,32,6471	TT,TC,CC		0.3256,0.0908,0.246	benign	64/213	17571489	32,12974	2203	4300	6503	SO:0001583	missense	115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571489C>T	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"""thioredoxin-like 6"""	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.190G>A	19.37:g.17571489C>T	ENSP00000305631:p.Glu64Lys					CTD-2521M24.10_ENST00000594663.1_5'UTR	p.E64K	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN			1	274	-			64			Thioredoxin.		Q0QD37	Missense_Mutation	SNP	ENST00000301944.2	37	c.190G>A	CCDS12360.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	c	14.22	2.469554	0.43839	9.08E-4	0.003256	ENSG00000171773	ENST00000301944	D	0.88201	-2.35	3.92	3.92	0.45320	Thioredoxin-like fold (3);	0.113857	0.64402	D	0.000018	D	0.87795	0.6267	N	0.26042	0.785	0.52099	D	0.999946	D	0.61697	0.99	P	0.60173	0.87	D	0.84749	0.0755	10	0.20046	T	0.44	-34.5012	13.4448	0.61134	0.0:1.0:0.0:0.0	.	64	Q96CM4	NXNL1_HUMAN	K	64	ENSP00000305631:E64K	ENSP00000305631:E64K	E	-	1	0	NXNL1	17432489	0.938000	0.31826	0.955000	0.39395	0.588000	0.36517	1.370000	0.34238	2.018000	0.59344	0.467000	0.42956	GAG		0.597	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	NM_138454		5	103	0	0	0	1	0	5	103				
GRB14	2888	broad.mit.edu	37	2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaacatfs	p.H298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.H211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371																																						ENST00000263915.3																			2	Deletion - Frameshift(2)	p.K297fs*23(2)	ovary(1)|breast(1)	breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(889-894)aaatggfs		growth factor receptor-bound protein 14																																				SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365287_165365288insT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.892dupA	2.37:g.165365296_165365296dupT	ENSP00000263915:p.His298fs					GRB14_ENST00000543549.1_Frame_Shift_Ins_p.W211fs	p.W298fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			7	1429_1430	-			298			PH.		B7Z7F9|Q7Z6I1	Frame_Shift_Ins	INS	ENST00000263915.3	37	c.891_892insA	CCDS2222.1																																																																																				0.371	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			9	137						9	137	---	---	---	---
PURA	5813	broad.mit.edu	37	5	139494097	139494098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr5:139494097_139494098insA	ENST00000331327.3	+	1	390_391	c.331_332insA	c.(331-333)cgcfs	p.R111fs		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	111					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGAGTTCCGCGACTACCTG	0.688																																						ENST00000331327.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(331-333)cgafs		purine-rich element binding protein A																																				SO:0001589	frameshift_variant	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139494097_139494098insA	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	Exception_encountered	5.37:g.139494097_139494098insA	ENSP00000332706:p.Arg111fs						p.R111fs	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	390_391	+			111						Frame_Shift_Ins	INS	ENST00000331327.3	37	c.331_332insA	CCDS4220.1																																																																																				0.688	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	NM_005859		7	13						7	13	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			3	6						3	6	---	---	---	---
RP11-478B9.1	0	broad.mit.edu	37	12	45466373	45466374	+	RNA	INS	-	-	A			TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr12:45466373_45466374insA	ENST00000548424.1	+	0	448																											AAGAAGCATTGAAAAAAATCTT	0.386																																						ENST00000548424.1																			0																																																			0							g.chr12:45466373_45466374insA																													12.37:g.45466380_45466380dupA														0	448	+									RNA	INS	ENST00000548424.1	37																																																																																						0.386	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			2	4						2	4	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			0							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		2	4						2	4	---	---	---	---
TUBB8P7	197331	broad.mit.edu	37	16	90161966	90161966	+	RNA	DEL	T	T	-	rs56265310	byFrequency	TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:90161966delT	ENST00000564451.1	+	0	1319				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTACCATGAGTTGGGGTCACC	0.542													|||unknown(NO_COVERAGE)	2930	0.585064	0.9251	0.4539	5008	,	,		11430	0.7718		0.3807	False		,,,				2504	0.2362					ENST00000564451.1																			0																																																			0							g.chr16:90161966delT			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161966delT						TUBB8P7_ENST00000567960.1_RNA								0	1319	+									RNA	DEL	ENST00000564451.1	37																																																																																						0.542	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	2						7	2	---	---	---	---
ARID3A	1820	broad.mit.edu	37	19	932497	932499	+	In_Frame_Del	DEL	GAG	GAG	-	rs201472856		TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:932497_932499delGAG	ENST00000263620.3	+	3	775_777	c.448_450delGAG	c.(448-450)gagdel	p.E154del		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	154	Acidic.|Glu-rich.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ttacgaggatgaggaggaggagg	0.67																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(448-450)del		AT rich interactive domain 3A (BRIGHT-like)				28,4098		1,26,2036						-7.3	0.2			11	102,7952		9,84,3934	no	coding	ARID3A	NM_005224.2		10,110,5970	A1A1,A1R,RR		1.2665,0.6786,1.0673				130,12050				SO:0001651	inframe_deletion	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:932497_932499delGAG	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.448_450delGAG	19.37:g.932506_932508delGAG	ENSP00000263620:p.Glu154del						p.E154del	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	775_777	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	154			Acidic.|Glu-rich.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	In_Frame_Del	DEL	ENST00000263620.3	37	c.448_450delGAG	CCDS12050.1																																																																																				0.670	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		3	6						3	6	---	---	---	---
LILRP2	79166	broad.mit.edu	37	19	55221804	55221805	+	RNA	INS	-	-	AC	rs45583536|rs201829099|rs376003578	byFrequency	TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:55221804_55221805insAC	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		CAGAGACAGAGACTGAGGGTCC	0.614														612	0.122204	0.1067	0.1484	5008	,	,		15697	0.1577		0.1054	False		,,,				2504	0.1053				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221804_55221805insAC	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221805_55221806dupAC														0	1415	+									RNA	INS	ENST00000413439.1	37																																																																																						0.614	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		4	9						4	9	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084384	26084384	+	RNA	DEL	T	T	-	rs373531723	byFrequency	TCGA-EM-A2CS-01A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55ab2585-c937-4a29-9caf-62daf8fccc5d	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr20:26084384delT	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		AAAAAGTCAGTTTTAAACCAC	0.328													?|TTTT|TTT|unsure	52	0.0103834	0.003	0.0202	5008	,	,		17211	0.0		0.0308	False		,,,				2504	0.0031					ENST00000478176.1																			0																																																			0							g.chr20:26084384delT	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084384delT								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.328	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			9	11						9	11	---	---	---	---
