#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
FLOT2	2319	broad.mit.edu	37	17	27208390	27208390	+	Silent	SNP	C	C	T			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr17:27208390C>T	ENST00000394908.4	-	9	1022	c.918G>A	c.(916-918)gtG>gtA	p.V306V	FLOT2_ENST00000585169.1_Silent_p.V306V|FLOT2_ENST00000394906.2_Silent_p.V361V|FLOT2_ENST00000577789.1_5'UTR	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	306					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GGACCTGCTTCACCCTGGGGG	0.627																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1081-1083)gtG>gtA		flotillin 2							62.0	62.0	62.0					17																	27208390		2003	4159	6162	SO:0001819	synonymous_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27208390C>T	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.918G>A	17.37:g.27208390C>T						FLOT2_ENST00000585169.1_Silent_p.V306V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Silent_p.V306V	p.V361V			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		11	1160	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		306						Silent	SNP	ENST00000394908.4	37	c.1083G>A	CCDS11245.2																																																																																				0.627	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		8	79	0	0	0	0.047766	0	8	79				
ARFGEF2	10564	broad.mit.edu	37	20	47626931	47626931	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr20:47626931C>G	ENST00000371917.4	+	27	3747	c.3747C>G	c.(3745-3747)tgC>tgG	p.C1249W		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1249					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGACCACTTGCCACATTGTCA	0.507																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3745-3747)tgC>tgG		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							122.0	88.0	100.0					20																	47626931		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47626931C>G	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3747C>G	20.37:g.47626931C>G	ENSP00000360985:p.Cys1249Trp						p.C1249W	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		27	3747	+			1249					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3747C>G	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829168	0.32329	.	.	ENSG00000124198	ENST00000371917	T	0.65549	-0.16	5.18	4.24	0.50183	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.097898	0.64402	D	0.000001	T	0.46737	0.1408	L	0.29908	0.895	0.46849	D	0.999221	B	0.32128	0.357	B	0.34536	0.185	T	0.49652	-0.8917	10	0.72032	D	0.01	.	4.6855	0.12755	0.1448:0.5397:0.2362:0.0793	.	1249	Q9Y6D5	BIG2_HUMAN	W	1249	ENSP00000360985:C1249W	ENSP00000360985:C1249W	C	+	3	2	ARFGEF2	47060338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.011000	0.29911	1.327000	0.45338	0.655000	0.94253	TGC		0.507	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		26	45	0	0	0	0.125774	0	26	45				
OSTC	58505	broad.mit.edu	37	4	109578625	109578625	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr4:109578625A>G	ENST00000361564.4	+	3	325	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	OSTC_ENST00000512478.2_Missense_Mutation_p.M85V	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	85					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACAATATATTATGGAAGGACT	0.338																																						ENST00000361564.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(253-255)Atg>Gtg		oligosaccharyltransferase complex subunit (non-catalytic)							49.0	47.0	48.0					4																	109578625		2203	4300	6503	SO:0001583	missense	58505					integral to membrane|oligosaccharyltransferase complex		g.chr4:109578625A>G	AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"""DC2 protein"""		"""oligosaccharyltransferase complex subunit"""			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.253A>G	4.37:g.109578625A>G	ENSP00000354676:p.Met85Val					OSTC_ENST00000512478.2_Missense_Mutation_p.M85V	p.M85V	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN			3	325	+			85					A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Missense_Mutation	SNP	ENST00000361564.4	37	c.253A>G	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.029247	0.54790	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	T;T	0.75367	-0.93;-0.93	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	T	0.75072	0.3800	M	0.72118	2.19	0.80722	D	1	B	0.26935	0.164	B	0.33690	0.168	T	0.72469	-0.4284	9	.	.	.	.	14.7601	0.69600	1.0:0.0:0.0:0.0	.	85	Q9NRP0	OSTC_HUMAN	V	85	ENSP00000354676:M85V;ENSP00000426167:M85V	.	M	+	1	0	OSTC	109798074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.841000	0.92131	1.944000	0.56390	0.445000	0.29226	ATG		0.338	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227		6	57	0	0	0	0.021553	0	6	57				
AHR	196	broad.mit.edu	37	7	17370506	17370506	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr7:17370506T>A	ENST00000242057.4	+	6	1344	c.701T>A	c.(700-702)tTt>tAt	p.F234Y		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	234					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TCATCTGGTTTTCTGGTAAGG	0.353																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(700-702)tTt>tAt		aryl hydrocarbon receptor							90.0	90.0	90.0					7																	17370506		2203	4299	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17370506T>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.701T>A	7.37:g.17370506T>A	ENSP00000242057:p.Phe234Tyr						p.F234Y	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			6	1344	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		234					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.701T>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	T	35	5.427174	0.96131	.	.	ENSG00000106546	ENST00000242057	T	0.06608	3.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	M	0.90369	3.11	0.80722	D	1	P	0.36282	0.546	P	0.49085	0.6	T	0.01472	-1.1346	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	234	P35869	AHR_HUMAN	Y	234	ENSP00000242057:F234Y	ENSP00000242057:F234Y	F	+	2	0	AHR	17337031	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.942000	0.87708	2.279000	0.76181	0.533000	0.62120	TTT		0.353	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		13	17	0	0	0	0.105934	0	13	17				
EFCAB7	84455	broad.mit.edu	37	1	63991290	63991290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr1:63991290C>A	ENST00000371088.4	+	2	293	c.47C>A	c.(46-48)tCa>tAa	p.S16*	ITGB3BP_ENST00000283568.8_5'Flank|ITGB3BP_ENST00000371092.3_5'Flank|ITGB3BP_ENST00000271002.10_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	16							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGTCAGAAATCAACACCTTCA	0.363																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(46-48)tCa>tAa		EF-hand calcium binding domain 7							75.0	81.0	79.0					1																	63991290		2203	4300	6503	SO:0001587	stop_gained	84455						calcium ion binding	g.chr1:63991290C>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.47C>A	1.37:g.63991290C>A	ENSP00000360129:p.Ser16*						p.S16*	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			2	293	+			16					Q658P0|Q96B95|Q96JM6	Nonsense_Mutation	SNP	ENST00000371088.4	37	c.47C>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401080	0.62288	.	.	ENSG00000203965	ENST00000371088	.	.	.	4.89	4.89	0.63831	.	0.923115	0.09262	N	0.826340	.	.	.	.	.	.	0.22112	N	0.999355	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8019	13.6868	0.62522	0.0:0.846:0.154:0.0	.	.	.	.	X	16	.	ENSP00000360129:S16X	S	+	2	0	EFCAB7	63763878	0.236000	0.23804	0.012000	0.15200	0.151000	0.21798	1.601000	0.36773	2.238000	0.73509	0.556000	0.70494	TCA		0.363	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		10	89	1	0	4.68919e-08	0.069234	5.92319e-08	10	89				
IFFO1	25900	broad.mit.edu	37	12	6664490	6664490	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr12:6664490G>T	ENST00000396840.2	-	1	747	c.706C>A	c.(706-708)Ccc>Acc	p.P236T	NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000336604.4_Missense_Mutation_p.P236T|IFFO1_ENST00000356896.4_Missense_Mutation_p.P236T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	236						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGGATCTCGGGCGTGATGGTG	0.662																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(706-708)Ccc>Acc		intermediate filament family orphan 1							104.0	105.0	105.0					12																	6664490		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6664490G>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.706C>A	12.37:g.6664490G>T	ENSP00000380052:p.Pro236Thr					IFFO1_ENST00000396840.2_Missense_Mutation_p.P236T|IFFO1_ENST00000356896.4_Missense_Mutation_p.P236T	p.P236T	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			1	747	-			236					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.706C>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.277057	0.80580	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	T;T;T	0.70045	-0.45;-0.45;-0.45	4.03	3.13	0.36017	.	0.086406	0.45606	D	0.000348	T	0.67078	0.2855	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.46277	0.875;0.875;0.875;0.875	P;P;P;P	0.48654	0.585;0.585;0.585;0.585	T	0.66606	-0.5881	10	0.41790	T	0.15	-17.6435	11.3142	0.49381	0.0905:0.0:0.9095:0.0	.	236;236;236;236	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	236	ENSP00000337593:P236T;ENSP00000380052:P236T;ENSP00000349364:P236T	ENSP00000337593:P236T	P	-	1	0	IFFO1	6534751	1.000000	0.71417	0.940000	0.37924	0.961000	0.63080	8.958000	0.93099	1.031000	0.39867	0.561000	0.74099	CCC		0.662	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		6	116	1	0	2.0095e-06	0.029380	2.4114e-06	6	116				
HIVEP3	59269	broad.mit.edu	37	1	42050343	42050343	+	Silent	SNP	T	T	A	rs147545420	byFrequency	TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr1:42050343T>A	ENST00000372583.1	-	4	1011	c.126A>T	c.(124-126)acA>acT	p.T42T	HIVEP3_ENST00000372584.1_Silent_p.T42T|HIVEP3_ENST00000247584.5_Silent_p.T42T|HIVEP3_ENST00000429157.2_Silent_p.T42T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	42					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGTGGCAGCTGTGCCGCTGC	0.627													T|||	5	0.000998403	0.0	0.0	5008	,	,		15928	0.0		0.005	False		,,,				2504	0.0					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(124-126)acA>acT		human immunodeficiency virus type I enhancer binding protein 3		T	,	4,4402	8.1+/-20.4	0,4,2199	88.0	105.0	99.0		126,126	-9.6	0.0	1	dbSNP_134	99	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,14,6489	AA,AT,TT		0.1163,0.0908,0.1076	,	42/2406,42/2407	42050343	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050343T>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.126A>T	1.37:g.42050343T>A						HIVEP3_ENST00000247584.5_Silent_p.T42T|HIVEP3_ENST00000429157.2_Silent_p.T42T|HIVEP3_ENST00000372583.1_Silent_p.T42T	p.T42T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1140	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	42					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.126A>T	CCDS463.1																																																																																				0.627	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	186	0	0	0	0.029380	0	7	186				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	93	0	0	0	0.029380	0	5	93				
FAM47A	158724	broad.mit.edu	37	X	34148211	34148211	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chrX:34148211C>T	ENST00000346193.3	-	1	2236	c.2185G>A	c.(2185-2187)Gtt>Att	p.V729I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	729										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCGTCAAGAACGTCAGGTTCA	0.438																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2185-2187)Gtt>Att		family with sequence similarity 47, member A							132.0	127.0	129.0					X																	34148211		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148211C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2185G>A	X.37:g.34148211C>T	ENSP00000345029:p.Val729Ile						p.V729I	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2236	-			729					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2185G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.563197	0.00134	.	.	ENSG00000185448	ENST00000346193	T	0.13089	2.62	1.17	-2.34	0.06704	.	.	.	.	.	T	0.01940	0.0061	N	0.00251	-1.775	0.09310	N	1	B	0.27594	0.182	B	0.18263	0.021	T	0.36792	-0.9733	9	0.02654	T	1	.	4.8336	0.13453	0.0:0.2308:0.0:0.7692	.	729	Q5JRC9	FA47A_HUMAN	I	729	ENSP00000345029:V729I	ENSP00000345029:V729I	V	-	1	0	FAM47A	34058132	0.011000	0.17503	0.003000	0.11579	0.006000	0.05464	-0.488000	0.06497	-0.626000	0.05596	-1.470000	0.01010	GTT		0.438	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		10	171	0	0	0	0.058154	0	10	171				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	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		23	32	0	0	0	0.099896	0	23	32				
FAM177A1P1	728710	broad.mit.edu	37	4	99877753	99877753	+	RNA	DEL	A	A	-	rs33952764|rs373692463|rs59266273	byFrequency	TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr4:99877753delA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaa	0.448													|||unknown(HR)	2780	0.555112	0.6649	0.4769	5008	,	,		14742	0.6627		0.4404	False		,,,				2504	0.4693					ENST00000583654.1																			0																																																			0							g.chr4:99877753delA																													4.37:g.99877753delA														0	237	+									RNA	DEL	ENST00000583654.1	37																																																																																						0.448	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1			2	4						2	4	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386																																						ENST00000521433.1																			0																																																			0							g.chr8:89498121_89498122insA																													8.37:g.89498131_89498131dupA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	INS	ENST00000521433.1	37																																																																																						0.386	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			3	5						3	5	---	---	---	---
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)gtcfs	p.V335fs		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	335	Pro-rich.																GAGTGAGCAGACACACTCGGGA	0.446																																						ENST00000360151.4																			0											c.(1003-1005)cfs		nuclear pore complex interacting protein family, member A5																																				SO:0001589	frameshift_variant	100288332							g.chr16:15457565_15457566delAC		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.1003_1004delGT	16.37:g.15457569_15457570delAC	ENSP00000433597:p.Val335fs						p.V335fs	NM_001277325.1	NP_001264254.1					8	1002_1003	-								Q0P618	Frame_Shift_Del	DEL	ENST00000360151.4	37	c.1003_1004delGT	CCDS59264.1																																																																																				0.446	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			7	52						7	52	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30339206	30339206	+	Frame_Shift_Del	DEL	T	T	-	rs560176639	byFrequency	TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr21:30339206delT	ENST00000361371.5	-	10	1686	c.1607delA	c.(1606-1608)aatfs	p.N536fs	LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	536					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N536fs*33(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AACCTTACCATTTTTTTTTTT	0.378													|||unknown(HR)	455	0.0908546	0.1248	0.0461	5008	,	,		18798	0.0714		0.0586	False		,,,				2504	0.1299					ENST00000361371.4																			1	Deletion - Frameshift(1)	p.N536fs*33(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(1606-1608)atfs		listerin E3 ubiquitin protein ligase 1							50.0	47.0	48.0					21																	30339206		2203	4300	6503	SO:0001589	frameshift_variant	26046						ligase activity|zinc ion binding	g.chr21:30339206delT	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1607delA	21.37:g.30339206delT	ENSP00000354977:p.Asn536fs					LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs	p.N536fs	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	1757	-			536					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Del	DEL	ENST00000361371.5	37	c.1607delA																																																																																					0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		8	59						8	59	---	---	---	---
IGLV3-9	28804	broad.mit.edu	37	22	23161844	23161845	+	RNA	DEL	CC	CC	-	rs72002333	byFrequency	TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr22:23161844_23161845delCC	ENST00000390316.2	+	0	161									immunoglobulin lambda variable 3-9 (gene/pseudogene)																		TGCTCATGGTCCCCTGAGGACA	0.554														616	0.123003	0.2451	0.1225	5008	,	,		15703	0.001		0.1491	False		,,,				2504	0.0573					ENST00000390316.2																			0																																																			0							g.chr22:23161844_23161845delCC	X97473		22q11.2	2012-02-08	2008-09-12		ENSG00000211670	ENSG00000211670		"""Immunoglobulins / IGL locus"""	5918	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-9"""				Standard	NG_000002		Approved				OTTHUMG00000151239		22.37:g.23161846_23161847delCC														0	161	+									RNA	DEL	ENST00000390316.2	37																																																																																						0.554	IGLV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321844.1	NG_000002		10	4						10	4	---	---	---	---
