#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
FIGF	2277	broad.mit.edu	37	X	15365368	15365368	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chrX:15365368T>G	ENST00000297904.3	-	6	1285	c.856A>C	c.(856-858)Aaa>Caa	p.K286Q	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	286	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CTGCAGTTTTTGGGGTGCTGG	0.488																																						uc004cwt.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(856-858)Aaa>Caa		Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.							151.0	137.0	142.0					X																	15365368		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15365368T>G	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.856A>C	X.37:g.15365368T>G	ENSP00000297904:p.Lys286Gln					FIGF_uc022bth.1_Non-coding_Transcript	p.K286Q	NM_004469	NP_004460	O43915	VEGFD_HUMAN			5	1323	-	Hepatocellular(33;0.183)		286			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.856A>C	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	T	7.506	0.653672	0.14580	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.02	3.15	0.36227	.	0.417921	0.24375	N	0.039061	T	0.14442	0.0349	N	0.03608	-0.345	0.22050	N	0.999395	B	0.09022	0.002	B	0.06405	0.002	T	0.25117	-1.0141	9	0.19590	T	0.45	-23.2321	7.6511	0.28348	0.0:0.7409:0.1605:0.0986	.	286	O43915	VEGFD_HUMAN	Q	286	.	ENSP00000297904:K286Q	K	-	1	0	FIGF	15275289	0.992000	0.36948	0.687000	0.30102	0.642000	0.38348	1.533000	0.36040	0.376000	0.24707	-0.378000	0.06908	AAA		0.488	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		3	82	0	0	0	1	0	3	82				
ECEL1	9427	broad.mit.edu	37	2	233348844	233348844	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:233348844G>A	ENST00000304546.1	-	7	1484	c.1274C>T	c.(1273-1275)gCa>gTa	p.A425V	ECEL1_ENST00000409941.1_Missense_Mutation_p.A425V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	425					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CATCTCCTGTGCCAGCTCGTG	0.647																																						uc002vsv.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1273-1275)gCa>gTa		Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.							50.0	51.0	51.0					2																	233348844		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233348844G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1274C>T	2.37:g.233348844G>A	ENSP00000302051:p.Ala425Val					ECEL1_uc010fya.1_Missense_Mutation_p.A425V|ECEL1_uc010fyb.1_Missense_Mutation_p.A132V	p.A425V	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	1479	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	425					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1274C>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713077	0.30413	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.73789	-0.78;-0.78	5.33	5.33	0.75918	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.057395	0.64402	D	0.000001	T	0.66616	0.2807	N	0.19112	0.55	0.51482	D	0.999925	B;B	0.30542	0.127;0.284	B;B	0.36719	0.047;0.231	T	0.63386	-0.6649	10	0.30854	T	0.27	-31.7905	19.0163	0.92896	0.0:0.0:1.0:0.0	.	425;425	O95672-2;O95672	.;ECEL1_HUMAN	V	425	ENSP00000302051:A425V;ENSP00000386333:A425V	ENSP00000302051:A425V	A	-	2	0	ECEL1	233057088	1.000000	0.71417	0.951000	0.38953	0.108000	0.19459	9.869000	0.99810	2.503000	0.84419	0.557000	0.71058	GCA		0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		42	67	0	0	0	1	0	42	67				
TAPBP	6892	broad.mit.edu	37	6	33272093	33272093	+	Silent	SNP	C	C	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:33272093C>T	ENST00000489157.1	-	4	1142	c.930G>A	c.(928-930)gaG>gaA	p.E310E	TAPBP_ENST00000434618.2_Silent_p.E397E|TAPBP_ENST00000426633.2_Silent_p.E397E|TAPBP_ENST00000456592.2_Silent_p.E397E|TAPBP_ENST00000475304.1_Silent_p.E415E			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	397	Ig-like C1-type.				amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CCAGGGTGACCTCAGCGCTGC	0.642																																						uc003odz.3																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(1189-1191)gaG>gaA		Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 2, mRNA.							49.0	51.0	50.0					6																	33272093		2203	4300	6503	SO:0001819	synonymous_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding	g.chr6:33272093C>T	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.930G>A	6.37:g.33272093C>T						TAPBP_uc003odx.2_Silent_p.E397E|TAPBP_uc010jut.2_Silent_p.E310E|TAPBP_uc003ody.3_3'UTR|TAPBP_uc011drc.2_Silent_p.E397E	p.E397E	NM_172208	NP_757345	O15533	TPSN_HUMAN			4	1537	-			397			Ig-like C1-type.		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Silent	SNP	ENST00000489157.1	37	c.1191G>A	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315690	0.10789	.	.	ENSG00000231925	ENST00000458089	.	.	.	5.57	-0.785	0.10950	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.32798	-0.9893	5	0.87932	D	0	-7.2454	5.2721	0.15630	0.0:0.4141:0.1419:0.444	.	.	.	.	K	152	.	ENSP00000406838:R152K	R	-	2	0	TAPBP	33380071	0.006000	0.16342	0.012000	0.15200	0.924000	0.55760	-0.264000	0.08658	-0.512000	0.06505	0.549000	0.68633	AGG		0.642	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			52	88	0	0	0	1	0	52	88				
ALOX12	239	broad.mit.edu	37	17	6908626	6908626	+	Silent	SNP	G	G	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:6908626G>T	ENST00000251535.6	+	9	1265	c.1212G>T	c.(1210-1212)cgG>cgT	p.R404R	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	404	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCCGGGCCCGGACCCAACTCA	0.552											OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gdx.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1210-1212)cgG>cgT		Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.							148.0	155.0	152.0					17																	6908626		2203	4300	6503	SO:0001819	synonymous_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6908626G>T	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1212G>T	17.37:g.6908626G>T			OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron	p.R404R	NM_000697	NP_000688	P18054	LOX12_HUMAN			8	1265	+			404			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	c.1212G>T	CCDS11084.1																																																																																				0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			7	534	0	0	0	1	0	7	534				
ENPP6	133121	broad.mit.edu	37	4	185012454	185012454	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr4:185012454G>A	ENST00000296741.2	-	8	1340	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	400					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTGGGCAGCGGGGTGATGCC	0.587																																						uc003iwc.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(1198-1200)cCg>cTg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.							100.0	95.0	97.0					4																	185012454		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012454G>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1199C>T	4.37:g.185012454G>A	ENSP00000296741:p.Pro400Leu						p.P400L	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	7	1341	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	400					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1199C>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850704	0.71719	.	.	ENSG00000164303	ENST00000296741	T	0.80033	-1.33	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93290	0.6667	10	0.87932	D	0	-31.513	20.2825	0.98528	0.0:0.0:1.0:0.0	.	400	Q6UWR7	ENPP6_HUMAN	L	400	ENSP00000296741:P400L	ENSP00000296741:P400L	P	-	2	0	ENPP6	185249448	1.000000	0.71417	0.613000	0.29037	0.104000	0.19210	9.144000	0.94629	2.894000	0.99253	0.591000	0.81541	CCG		0.587	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		61	130	0	0	0	1	0	61	130				
ZNF142	7701	broad.mit.edu	37	2	219503377	219503377	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:219503377G>C	ENST00000449707.1	-	10	5170	c.4749C>G	c.(4747-4749)caC>caG	p.H1583Q	ZNF142_ENST00000411696.2_Missense_Mutation_p.H1583Q	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTTGCGAAGGTGGGTGCGCA	0.622																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.3																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4747-4749)caC>caG		Homo sapiens zinc finger protein 142 (ZNF142), mRNA.							57.0	63.0	61.0					2																	219503377		2181	4274	6455	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503377G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4749C>G	2.37:g.219503377G>C	ENSP00000408643:p.His1583Gln					ZNF142_uc002vil.3_Missense_Mutation_p.H1544Q|ZNF142_uc010fvt.3_Missense_Mutation_p.H1420Q|ZNF142_uc002vim.3_Missense_Mutation_p.H1420Q	p.H1583Q	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	5185	-		Renal(207;0.0474)	1583					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4749C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678190	0.68042	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	D;D	0.99974	-10.2;-10.2	6.01	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.96365	3.81	0.43559	D	0.99587	P;P	0.52316	0.952;0.952	P;P	0.57911	0.816;0.829	D	0.95485	0.8564	10	0.87932	D	0	-35.5354	11.7252	0.51706	0.1707:0.0:0.8293:0.0	.	1583;1420	P52746;A8MWU9	ZN142_HUMAN;.	Q	1583	ENSP00000408643:H1583Q;ENSP00000398798:H1583Q	ENSP00000398798:H1583Q	H	-	3	2	ZNF142	219211621	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.738000	0.55067	0.397000	0.25310	-0.320000	0.08662	CAC		0.622	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		28	61	0	0	0	1	0	28	61				
OR3A3	8392	broad.mit.edu	37	17	3324444	3324444	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:3324444C>A	ENST00000291231.1	+	1	583	c.583C>A	c.(583-585)Cag>Aag	p.Q195K		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	195					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ACAGCTCTTCCAGCTCTCCTG	0.552																																						uc010vrd.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(583-585)Cag>Aag		Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.							75.0	72.0	73.0					17																	3324444		2203	4298	6501	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324444C>A	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.583C>A	17.37:g.3324444C>A	ENSP00000291231:p.Gln195Lys						p.Q195K	NM_012373	NP_036505	P47888	OR3A3_HUMAN			0	583	+			195					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.583C>A	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	0.044	-1.272735	0.01421	.	.	ENSG00000159961	ENST00000291231	T	0.00016	9.12	2.52	0.365	0.16131	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01019	-1.045	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.23332	-1.0191	9	0.02654	T	1	.	4.2322	0.10608	0.5327:0.3393:0.0:0.1279	.	195	P47888	OR3A3_HUMAN	K	195	ENSP00000291231:Q195K	ENSP00000291231:Q195K	Q	+	1	0	OR3A3	3271194	0.000000	0.05858	0.966000	0.40874	0.992000	0.81027	-0.140000	0.10342	0.116000	0.18110	0.650000	0.86243	CAG		0.552	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			56	90	0	0	0	1	0	56	90				
CCDC40	55036	broad.mit.edu	37	17	78073390	78073390	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:78073390G>A	ENST00000397545.4	+	20	3272	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H	GAA_ENST00000390015.3_5'Flank|GAA_ENST00000302262.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1082					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGAGGGGCGCTACGTGTTC	0.602																																						uc010dht.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(3244-3246)cGc>cAc		Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.							53.0	60.0	58.0					17																	78073390		2011	4184	6195	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073390G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3245G>A	17.37:g.78073390G>A	ENSP00000380679:p.Arg1082His					CCDC40_uc002jxm.4_Missense_Mutation_p.R865H|CCDC40_uc002jxn.4_Missense_Mutation_p.R478H|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	p.R1082H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		19	3276	+	all_neural(118;0.167)		1082					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.3245G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853545	0.32791	.	.	ENSG00000141519	ENST00000397545	T	0.50548	0.74	4.76	0.524	0.17066	.	.	.	.	.	T	0.53578	0.1805	L	0.56769	1.78	0.09310	N	1	D;D	0.69078	0.997;0.996	P;P	0.54965	0.765;0.742	T	0.45920	-0.9228	9	0.59425	D	0.04	-14.9157	9.1347	0.36866	0.6443:0.0:0.3557:0.0	.	1082;865	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	H	1082	ENSP00000380679:R1082H	ENSP00000380679:R1082H	R	+	2	0	CCDC40	75687985	0.995000	0.38212	0.002000	0.10522	0.101000	0.19017	1.345000	0.33953	0.024000	0.15214	0.655000	0.94253	CGC		0.602	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		3	67	0	0	0	1	0	3	67				
LRP2	4036	broad.mit.edu	37	2	169995788	169995788	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:169995788A>G	ENST00000263816.3	-	74	13646	c.13361T>C	c.(13360-13362)cTt>cCt	p.L4454P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4454					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGCAGGCAAAAGGGAGCCGGT	0.468																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(13360-13362)cTt>cCt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						77.0	81.0	80.0					2																	169995788		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	g.chr2:169995788A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13361T>C	2.37:g.169995788A>G	ENSP00000263816:p.Leu4454Pro						p.L4454P	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	73	13574	-			4454					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13361T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447890	0.84101	.	.	ENSG00000081479	ENST00000263816	D	0.90620	-2.7	5.53	5.53	0.82687	.	0.179582	0.50627	D	0.000117	D	0.90549	0.7038	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.62491	0.903	D	0.90092	0.4178	10	0.33940	T	0.23	.	15.6705	0.77270	1.0:0.0:0.0:0.0	.	4454	P98164	LRP2_HUMAN	P	4454	ENSP00000263816:L4454P	ENSP00000263816:L4454P	L	-	2	0	LRP2	169704034	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.495000	0.90481	2.106000	0.64143	0.455000	0.32223	CTT		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	90	0	0	0	1	0	4	90				
KRBA2	124751	broad.mit.edu	37	17	8273458	8273458	+	Missense_Mutation	SNP	C	C	A	rs139656920	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:8273458C>A	ENST00000331336.2	-	2	478	c.473G>T	c.(472-474)cGt>cTt	p.R158L	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.R76L|RP11-849F2.5_ENST00000580537.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	158					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TTTTGCTGCACGGCGATAATC	0.378																																						uc002glf.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(472-474)cGt>cTt		Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.							249.0	225.0	233.0					17																	8273458		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273458C>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.473G>T	17.37:g.8273458C>A	ENSP00000328017:p.Arg158Leu					KRBA2_uc002glg.1_Missense_Mutation_p.R75L	p.R158L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			1	479	-			158					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.473G>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924057	0.18056	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.21543	2.04;2.0	2.4	0.321	0.15883	.	.	.	.	.	T	0.12817	0.0311	N	0.24115	0.695	0.23346	N	0.997866	B	0.18968	0.032	B	0.12837	0.008	T	0.26326	-1.0106	9	0.49607	T	0.09	.	6.7159	0.23302	0.0:0.7366:0.0:0.2634	.	158	Q6ZNG9	KRBA2_HUMAN	L	76;158	ENSP00000379565:R76L;ENSP00000328017:R158L	ENSP00000328017:R158L	R	-	2	0	KRBA2	8214183	0.005000	0.15991	0.526000	0.27913	0.619000	0.37552	-0.005000	0.12855	0.130000	0.18549	0.550000	0.68814	CGT		0.378	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		35	204	0	0	0	1	0	35	204				
ZNF263	10127	broad.mit.edu	37	16	3339612	3339612	+	Missense_Mutation	SNP	C	C	T	rs541895788	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr16:3339612C>T	ENST00000219069.5	+	6	1982	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L	ZNF263_ENST00000574253.1_Nonsense_Mutation_p.R203*|ZNF263_ENST00000538765.1_Missense_Mutation_p.P17L	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	369					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGGGGCGACCGAAGGAACTG	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		19165	0.0		0.0	False		,,,				2504	0.002					uc002cuq.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(1105-1107)cCg>cTg		Homo sapiens zinc finger protein 263 (ZNF263), mRNA.							55.0	53.0	54.0					16																	3339612		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339612C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1106C>T	16.37:g.3339612C>T	ENSP00000219069:p.Pro369Leu					ZNF263_uc010uww.2_Missense_Mutation_p.P17L|ZNF263_uc002cur.2_Missense_Mutation_p.P17L	p.P369L	NM_005741	NP_005732	O14978	ZN263_HUMAN			5	1438	+			369					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1106C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417524	0.62622	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.05996	3.36;3.46	5.84	3.73	0.42828	.	0.682009	0.13481	N	0.384684	T	0.03095	0.0091	N	0.08118	0	0.37786	D	0.927202	B	0.32731	0.382	B	0.19666	0.026	T	0.53878	-0.8376	10	0.21014	T	0.42	.	10.8049	0.46512	0.3439:0.6561:0.0:0.0	.	369	O14978	ZN263_HUMAN	L	17;369	ENSP00000444497:P17L;ENSP00000219069:P369L	ENSP00000219069:P369L	P	+	2	0	ZNF263	3279613	0.442000	0.25633	0.140000	0.22221	0.007000	0.05969	2.314000	0.43743	1.423000	0.47198	0.655000	0.94253	CCG		0.532	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			33	37	0	0	0	1	0	33	37				
ACLY	47	broad.mit.edu	37	17	40024146	40024146	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:40024146C>A	ENST00000352035.2	-	29	3353	c.3223G>T	c.(3223-3225)Gat>Tat	p.D1075Y	ACLY_ENST00000590151.1_Missense_Mutation_p.D1075Y|ACLY_ENST00000393896.2_Missense_Mutation_p.D1065Y|ACLY_ENST00000537919.1_Missense_Mutation_p.D804Y|KLHL11_ENST00000319121.3_5'Flank|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000353196.1_Missense_Mutation_p.D1065Y	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1075					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTCTTCTGATCAAGATAGTGT	0.433																																					Colon(64;807 1396 15971 30971)	uc002hyi.3																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(3385-3387)Gat>Tat		Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.							134.0	122.0	126.0					17																	40024146		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40024146C>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3223G>T	17.37:g.40024146C>A	ENSP00000253792:p.Asp1075Tyr					KLHL11_uc002hyf.1_5'Flank|ACLY_uc002hyg.3_Missense_Mutation_p.D1075Y|ACLY_uc002hyh.3_Missense_Mutation_p.D1065Y|ACLY_uc010wfx.2_Missense_Mutation_p.D1119Y|ACLY_uc010wfy.2_Missense_Mutation_p.D804Y	p.D1129Y	NM_001096	NP_001087	P53396	ACLY_HUMAN			28	3390	-		Breast(137;0.000143)	1075					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.3385G>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	-	23.5	4.418587	0.83559	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.91740	-2.0;-1.99;-2.9;-1.99	5.95	4.93	0.64822	Citrate synthase-like, core (1);	0.101533	0.64402	D	0.000004	D	0.96907	0.8990	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.947;0.977;0.977;0.994;0.964	D	0.97451	1.0028	10	0.87932	D	0	.	16.6515	0.85203	0.0:0.8704:0.1296:0.0	.	804;1119;1129;1065;1075	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	Y	1075;1129;1065;804;1065	ENSP00000253792:D1075Y;ENSP00000345398:D1065Y;ENSP00000445349:D804Y;ENSP00000377474:D1065Y	ENSP00000253792:D1075Y	D	-	1	0	ACLY	37277672	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.993000	0.70616	2.821000	0.97095	0.650000	0.86243	GAT		0.433	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		3	89	0	0	0	1	0	3	89				
KCNA5	3741	broad.mit.edu	37	12	5154100	5154100	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr12:5154100T>G	ENST00000252321.3	+	1	1016	c.787T>G	c.(787-789)Tcc>Gcc	p.S263A		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	263					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TATCCTCATCTCCATCATCAC	0.642																																						uc001qni.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(787-789)Tcc>Gcc		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.							108.0	114.0	112.0					12																	5154100		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154100T>G	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.787T>G	12.37:g.5154100T>G	ENSP00000252321:p.Ser263Ala						p.S263A	NM_002234	NP_002225	P22460	KCNA5_HUMAN			0	1016	+			263					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.787T>G	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938397	0.73557	.	.	ENSG00000130037	ENST00000252321	T	0.69561	-0.41	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	T	0.81791	0.4897	M	0.90542	3.125	0.80722	D	1	D	0.56287	0.975	P	0.58210	0.835	D	0.86101	0.1556	10	0.87932	D	0	.	13.6401	0.62246	0.0:0.0:0.0:1.0	.	263	P22460	KCNA5_HUMAN	A	263	ENSP00000252321:S263A	ENSP00000252321:S263A	S	+	1	0	KCNA5	5024361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.799000	0.85936	2.007000	0.58848	0.459000	0.35465	TCC		0.642	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		35	258	0	0	0	1	0	35	258				
EFTUD2	9343	broad.mit.edu	37	17	42941058	42941058	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:42941058C>T	ENST00000426333.2	-	15	1675	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EFTUD2_ENST00000591382.1_Missense_Mutation_p.D460N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D450N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D425N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	460					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCGCCGAGGTCGGAGTCCACA	0.552																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1378-1380)Gac>Aac		Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.							123.0	96.0	106.0					17																	42941058		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42941058C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1378G>A	17.37:g.42941058C>T	ENSP00000392094:p.Asp460Asn					EFTUD2_uc010wje.1_Missense_Mutation_p.D425N|EFTUD2_uc010wjf.1_Missense_Mutation_p.D450N	p.D460N	NM_004247	NP_001136077	Q15029	U5S1_HUMAN			14	1639	-		Prostate(33;0.109)	460					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1378G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785628	0.70337	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.80214	-1.35;-1.35	6.04	6.04	0.98038	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.044050	0.85682	D	0.000000	T	0.76579	0.4007	L	0.38175	1.15	0.80722	D	1	B;B	0.15719	0.014;0.014	B;B	0.11329	0.006;0.006	T	0.68743	-0.5328	10	0.48119	T	0.1	-10.6099	20.5792	0.99380	0.0:1.0:0.0:0.0	.	450;460	B4DMC0;Q15029	.;U5S1_HUMAN	N	460;450;425	ENSP00000392094:D460N;ENSP00000385873:D425N	ENSP00000262414:D450N	D	-	1	0	EFTUD2	40296584	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.453000	0.80700	2.873000	0.98535	0.561000	0.74099	GAC		0.552	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		4	141	0	0	0	1	0	4	141				
NXPE2	120406	broad.mit.edu	37	11	114569205	114569205	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr11:114569205C>G	ENST00000389586.4	+	3	761	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	NXPE2_ENST00000375475.5_Missense_Mutation_p.L191V	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	191						integral component of membrane (GO:0016021)											TTCCCTGTCTCTGCTGCTCAT	0.537																																						uc009yyy.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						c.(571-573)Ctg>Gtg		Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.							92.0	102.0	99.0					11																	114569205		692	1591	2283	SO:0001583	missense	120406					integral to membrane		g.chr11:114569205C>G	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.571C>G	11.37:g.114569205C>G	ENSP00000374237:p.Leu191Val						p.L191V	NM_182495	NP_872301	Q96DL1	FA55B_HUMAN			2	669	+			191					Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.571C>G	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	C	4.689	0.128170	0.08981	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.08720	3.57;3.06	4.66	-6.61	0.01818	Immunoglobulin E-set (1);	1.685130	0.03965	N	0.290589	T	0.04003	0.0112	N	0.04132	-0.27	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.48246	-0.9052	10	0.02654	T	1	.	17.5256	0.87799	0.0956:0.1602:0.7441:0.0	.	191	Q96DL1	FA55B_HUMAN	V	191	ENSP00000374237:L191V;ENSP00000364624:L191V	ENSP00000364624:L191V	L	+	1	2	FAM55B	114074415	0.000000	0.05858	0.025000	0.17156	0.961000	0.63080	-2.489000	0.00976	-1.163000	0.02793	-0.282000	0.10007	CTG		0.537	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		3	47	0	0	0	1	0	3	47				
ETNK2	55224	broad.mit.edu	37	1	204115853	204115853	+	Silent	SNP	G	G	A	rs139650333		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr1:204115853G>A	ENST00000367202.4	-	3	708	c.558C>T	c.(556-558)caC>caT	p.H186H	ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367201.3_Silent_p.H186H|ETNK2_ENST00000367198.2_Silent_p.H8H	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	186					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.H186H(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCGTTGGCGTGGATAGTAT	0.498																																						uc001han.4																			1	Substitution - coding silent(1)	p.H186H(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(556-558)caC>caT		Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	151.0	129.0	136.0		558	-4.5	0.9	1	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	ETNK2	NM_018208.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		186/387	204115853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204115853G>A	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.558C>T	1.37:g.204115853G>A						ETNK2_uc010pqr.2_Silent_p.H8H|ETNK2_uc001hao.4_Silent_p.H186H|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Silent_p.H8H	p.H186H			Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	885	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		186					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Silent	SNP	ENST00000367202.4	37	c.558C>T	CCDS1442.2																																																																																				0.498	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		4	114	0	0	0	1	0	4	114				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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	NP_004324	P15056	BRAF_HUMAN			14	1860	-	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		27	43	0	0	0	1	0	27	43				
ILF3	3609	broad.mit.edu	37	19	10789305	10789305	+	Silent	SNP	C	C	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr19:10789305C>T	ENST00000590261.1	+	5	576	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_ENST00000449870.1_Silent_p.N192N|ILF3_ENST00000250241.8_Silent_p.N192N|ILF3_ENST00000407004.3_Silent_p.N192N|ILF3_ENST00000588657.1_Silent_p.N192N|ILF3_ENST00000592763.1_Silent_p.N192N|ILF3_ENST00000420083.1_Silent_p.N192N|ILF3_ENST00000318511.3_Silent_p.N192N|ILF3_ENST00000589998.1_Silent_p.N192N			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	192	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502																																						uc002mpo.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(574-576)aaC>aaT		Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 4, mRNA.							96.0	84.0	88.0					19																	10789305		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10789305C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.576C>T	19.37:g.10789305C>T						ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpn.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N	p.N192N	NM_017620	NP_060090	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		5	893	+			192			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.576C>T	CCDS12246.1																																																																																				0.502	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			4	154	0	0	0	1	0	4	154				
SLC22A16	85413	broad.mit.edu	37	6	110746110	110746110	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:110746110G>C	ENST00000368919.3	-	8	1766	c.1700C>G	c.(1699-1701)gCg>gGg	p.A567G	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A533G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	567					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GGGGGTAATCGCTTCCGTTTT	0.423																																						uc003puf.3																			0		p.A567A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1699-1701)gCg>gGg		Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.							149.0	140.0	143.0					6																	110746110		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746110G>C		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1700C>G	6.37:g.110746110G>C	ENSP00000357915:p.Ala567Gly					SLC22A16_uc003pue.3_Missense_Mutation_p.A548G	p.A567G	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	7	1767	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	567					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.1700C>G	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827903	0.16749	.	.	ENSG00000004809	ENST00000368919;ENST00000330550	T;T	0.69040	-0.16;-0.37	4.96	-0.224	0.13115	.	6.532570	0.00166	N	0.000000	T	0.26774	0.0655	N	0.08118	0	0.09310	N	1	P;P	0.45768	0.789;0.866	B;B	0.43331	0.237;0.416	T	0.12553	-1.0543	10	0.23302	T	0.38	.	7.7078	0.28661	0.6332:0.0:0.3668:0.0	.	567;533	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	G	567;533	ENSP00000357915:A567G;ENSP00000328583:A533G	ENSP00000328583:A533G	A	-	2	0	SLC22A16	110852803	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.565000	0.23578	-0.206000	0.10203	-0.229000	0.12294	GCG		0.423	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		78	113	0	0	0	1	0	78	113				
SAMD5	389432	broad.mit.edu	37	6	147830172	147830172	+	Silent	SNP	C	C	A	rs373282999	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:147830172C>A	ENST00000367474.1	+	1	110	c.108C>A	c.(106-108)atC>atA	p.I36I		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	36	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GCAAGCAGATCGGGGACCCGG	0.667													C|||	4	0.000798722	0.0	0.0	5008	,	,		7928	0.0		0.0	False		,,,				2504	0.0041					uc003qmc.2																			0											c.(106-108)atC>atA		Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA.							42.0	40.0	41.0					6																	147830172		2203	4300	6503	SO:0001819	synonymous_variant	389432							g.chr6:147830172C>A	AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"""Sterile alpha motif (SAM) domain containing"""	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.108C>A	6.37:g.147830172C>A							p.I36I	NM_001030060	NP_001025231	Q5TGI4	SAMD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)	0	345	+		Ovarian(120;0.0907)	36			SAM.			Silent	SNP	ENST00000367474.1	37	c.108C>A	CCDS34548.1																																																																																				0.667	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		11	70	0	0	0	1	0	11	70				
