#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
FLNA	2316	broad.mit.edu	37	X	153580679	153580679	+	Silent	SNP	G	G	A			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chrX:153580679G>A	ENST00000369850.3	-	41	6875	c.6639C>T	c.(6637-6639)agC>agT	p.S2213S	FLNA_ENST00000422373.1_Silent_p.S2205S|FLNA_ENST00000369856.3_Silent_p.S346S|FLNA_ENST00000360319.4_Silent_p.S2205S|FLNA_ENST00000344736.4_Silent_p.S2173S|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2213					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTACTTCACGCTGACTGTGT	0.647																																						ENST00000422373.1																			0				breast(6)	6	GRCh37	CD012847	FLNA	D		c.(6613-6615)agC>agT		filamin A, alpha							70.0	74.0	72.0					X																	153580679		2192	4271	6463	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580679G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6639C>T	X.37:g.153580679G>A						FLNA_ENST00000369850.3_Silent_p.S2213S|FLNA_ENST00000369856.3_Silent_p.S346S|FLNA_ENST00000360319.4_Silent_p.S2205S|FLNA_ENST00000344736.4_Silent_p.S2173S	p.S2205S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			40	6863	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2213					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6615C>T	CCDS48194.1																																																																																				0.647	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	32	0	0	0	1	0	4	32				
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T														0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	26	0	0	0	1	0	3	26				
HSP90AA1	3320	broad.mit.edu	37	14	102548619	102548619	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr14:102548619G>A	ENST00000216281.8	-	10	2123	c.1918C>T	c.(1918-1920)Cat>Tat	p.H640Y	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.H762Y	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	640					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ATAATGGAATGGTCAGGGTTT	0.448																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2284-2286)Cat>Tat		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						179.0	181.0	180.0					14																	102548619		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548619G>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1918C>T	14.37:g.102548619G>A	ENSP00000216281:p.His640Tyr					HSP90AA1_ENST00000216281.8_Missense_Mutation_p.H640Y	p.H762Y	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			11	2565	-			640					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.2284C>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.591491	0.86953	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.59224	0.28;0.28	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	D	0.88347	0.6412	H	0.99954	5.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.94569	0.7769	10	0.87932	D	0	-31.6851	17.5881	0.87988	0.0:0.0:1.0:0.0	.	762;640	P07900-2;P07900	.;HS90A_HUMAN	Y	640;762	ENSP00000216281:H640Y;ENSP00000335153:H762Y	ENSP00000216281:H640Y	H	-	1	0	HSP90AA1	101618372	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.436000	0.97532	2.228000	0.72767	0.585000	0.79938	CAT		0.448	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		6	195	0	0	0	1	0	6	195				
RNF113A	7737	broad.mit.edu	37	X	119005413	119005413	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chrX:119005413C>T	ENST00000371442.2	-	1	378	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	55							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTTTTCCGGTCGAACCACAGT	0.607																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(163-165)cGa>cAa		ring finger protein 113A							151.0	145.0	147.0					X																	119005413		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005413C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.164G>A	X.37:g.119005413C>T	ENSP00000360497:p.Arg55Gln						p.R55Q	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	378	-			55					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.164G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887862	0.52014	.	.	ENSG00000125352	ENST00000371442	T	0.31769	1.48	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.73598	2.24	0.53688	D	0.999978	P	0.43662	0.814	B	0.34452	0.183	T	0.23762	-1.0179	10	0.41790	T	0.15	-6.4327	13.7608	0.62966	0.0:1.0:0.0:0.0	.	55	O15541	R113A_HUMAN	Q	55	ENSP00000360497:R55Q	ENSP00000360497:R55Q	R	-	2	0	RNF113A	118889441	0.993000	0.37304	0.763000	0.31416	0.667000	0.39255	4.605000	0.61119	2.318000	0.78349	0.600000	0.82982	CGA		0.607	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		9	152	0	0	0	1	0	9	152				
MAN1C1	57134	broad.mit.edu	37	1	26107493	26107493	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr1:26107493C>A	ENST00000374332.4	+	10	1870	c.1540C>A	c.(1540-1542)Ctg>Atg	p.L514M	MAN1C1_ENST00000374329.1_Missense_Mutation_p.L285M|MAN1C1_ENST00000263979.3_Missense_Mutation_p.L334M	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	514					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGCCACCCAGCTGAGCGAGAG	0.612																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(1540-1542)Ctg>Atg		mannosidase, alpha, class 1C, member 1							88.0	90.0	89.0					1																	26107493		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26107493C>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1540C>A	1.37:g.26107493C>A	ENSP00000363452:p.Leu514Met					MAN1C1_ENST00000374329.1_Missense_Mutation_p.L285M|MAN1C1_ENST00000263979.3_Missense_Mutation_p.L334M	p.L514M	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	10	1870	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	514					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1540C>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869293	0.32977	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.73047	-0.71;-0.71;-0.71	5.14	3.24	0.37175	.	0.270023	0.30850	N	0.008756	T	0.58177	0.2104	L	0.31845	0.965	0.20489	N	0.999895	B	0.17852	0.024	B	0.32149	0.141	T	0.48375	-0.9041	10	0.32370	T	0.25	.	6.1167	0.20130	0.1612:0.6831:0.0:0.1558	.	514	Q9NR34	MA1C1_HUMAN	M	514;334;334;285	ENSP00000363452:L514M;ENSP00000263979:L334M;ENSP00000363449:L285M	ENSP00000263979:L334M	L	+	1	2	MAN1C1	25980080	0.998000	0.40836	0.587000	0.28692	0.836000	0.47400	2.620000	0.46410	0.530000	0.28619	0.561000	0.74099	CTG		0.612	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		4	119	1	0	1	1	1	4	119				
CARF	79800	broad.mit.edu	37	2	203806639	203806639	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr2:203806639A>G	ENST00000402905.3	+	3	335	c.14A>G	c.(13-15)aAt>aGt	p.N5S	CARF_ENST00000471271.1_3'UTR|CARF_ENST00000444724.1_Missense_Mutation_p.N5S|CARF_ENST00000428585.1_Missense_Mutation_p.N5S|CARF_ENST00000434998.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.N5S|CARF_ENST00000320443.8_Missense_Mutation_p.N5S|CARF_ENST00000438828.2_Missense_Mutation_p.N5S|CARF_ENST00000456821.2_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000545253.1_Intron|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	5					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAACAATCTAATGATTCATTA	0.343																																						ENST00000320443.8																			0											c.(13-15)aAt>aGt		calcium responsive transcription factor							132.0	125.0	127.0					2																	203806639		1852	4088	5940	SO:0001583	missense	79800							g.chr2:203806639A>G	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.14A>G	2.37:g.203806639A>G	ENSP00000384006:p.Asn5Ser					CARF_ENST00000428585.1_Missense_Mutation_p.N5S|CARF_ENST00000545253.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.N5S|CARF_ENST00000434998.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000456821.2_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.N5S|CARF_ENST00000414439.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.N5S|CARF_ENST00000438828.2_Missense_Mutation_p.N5S	p.N5S							3	1057	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.14A>G	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	A	6.002	0.368746	0.11352	.	.	ENSG00000138380	ENST00000402905;ENST00000414490;ENST00000444724;ENST00000414857;ENST00000430899;ENST00000441569;ENST00000432024;ENST00000443740;ENST00000428585;ENST00000545262;ENST00000447539;ENST00000320443;ENST00000438828	.	.	.	5.28	1.64	0.23874	.	0.806228	0.11198	N	0.589123	T	0.19765	0.0475	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.11235	0.0;0.004;0.001;0.002	B;B;B;B	0.10450	0.001;0.005;0.002;0.003	T	0.20773	-1.0265	9	0.41790	T	0.15	-0.0492	3.7259	0.08474	0.6512:0.0:0.1775:0.1713	.	5;5;5;5	G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	S	5	.	ENSP00000316224:N5S	N	+	2	0	ALS2CR8	203514884	0.001000	0.12720	0.003000	0.11579	0.960000	0.62799	0.683000	0.25349	0.318000	0.23185	0.528000	0.53228	AAT		0.343	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		6	78	0	0	0	1	0	6	78				
TMEM261	90871	broad.mit.edu	37	9	7799725	7799725	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr9:7799725G>A	ENST00000358227.4	-	1	342	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	4						integral component of membrane (GO:0016021)											TGGGACAACCGAGACCCCATG	0.642																																						ENST00000358227.4																			0				lung(1)	1						c.(10-12)Cgg>Tgg									23.0	23.0	23.0					9																	7799725		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr9:7799725G>A	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 123"""	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.10C>T	9.37:g.7799725G>A	ENSP00000350961:p.Arg4Trp					C9orf123_ENST00000484082.1_Intron	p.R4W	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	342	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	4					A8K9B7|Q5T6Y9|Q9NT74	Missense_Mutation	SNP	ENST00000358227.4	37	c.10C>T	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	g	12.70	2.017552	0.35606	.	.	ENSG00000137038	ENST00000358227	T	0.45668	0.89	4.48	-2.3	0.06785	.	4.734690	0.00682	N	0.000688	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	P;P	0.48350	0.909;0.909	B;B	0.41723	0.365;0.365	T	0.07139	-1.0788	10	0.49607	T	0.09	-18.367	0.6756	0.00866	0.3386:0.3027:0.1875:0.1711	.	4;4	Q96GE9-2;Q96GE9	.;CI123_HUMAN	W	4	ENSP00000350961:R4W	ENSP00000350961:R4W	R	-	1	2	C9orf123	7789725	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.712000	0.05013	-0.387000	0.07809	-1.116000	0.02052	CGG		0.642	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1	NM_033428		20	28	0	0	0	1	0	20	28				
OR5I1	10798	broad.mit.edu	37	11	55702995	55702995	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr11:55702995C>G	ENST00000301532.3	-	1	881	c.882G>C	c.(880-882)ttG>ttC	p.L294F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	294					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTTATTTCTCAAACTATAAA	0.358																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(880-882)ttG>ttC		olfactory receptor, family 5, subfamily I, member 1							62.0	61.0	61.0					11																	55702995		2200	4294	6494	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55702995C>G	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.882G>C	11.37:g.55702995C>G	ENSP00000301532:p.Leu294Phe						p.L294F	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	881	-			294					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.882G>C	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745148	0.30955	.	.	ENSG00000167825	ENST00000301532	T	0.39787	1.06	4.96	2.06	0.26882	.	0.000000	0.37715	N	0.001980	T	0.63010	0.2475	M	0.87097	2.86	0.34057	D	0.656884	D	0.76494	0.999	D	0.80764	0.994	T	0.70457	-0.4866	10	0.87932	D	0	.	6.9734	0.24662	0.0:0.6931:0.1428:0.1641	.	294	Q13606	OR5I1_HUMAN	F	294	ENSP00000301532:L294F	ENSP00000301532:L294F	L	-	3	2	OR5I1	55459571	0.000000	0.05858	0.050000	0.19076	0.469000	0.32828	-1.281000	0.02802	0.219000	0.20840	-0.149000	0.13747	TTG		0.358	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		11	16	0	0	0	1	0	11	16				
GPR45	11250	broad.mit.edu	37	2	105859266	105859266	+	Silent	SNP	C	C	T	rs370186894		TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr2:105859266C>T	ENST00000258456.1	+	1	1067	c.951C>T	c.(949-951)tcC>tcT	p.S317S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ACCTCAAGTCCGTCTTCAACC	0.552																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(949-951)tcC>tcT		G protein-coupled receptor 45							121.0	120.0	120.0					2																	105859266		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859266C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.951C>T	2.37:g.105859266C>T							p.S317S	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	1067	+			317					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.951C>T	CCDS2066.1																																																																																				0.552	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		7	135	0	0	0	1	0	7	135				
LILRB5	10990	broad.mit.edu	37	19	54754946	54754946	+	Intron	SNP	G	G	A	rs146755009	byFrequency	TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr19:54754946G>A	ENST00000316219.5	-	13	1734				LILRB5_ENST00000450632.1_Silent_p.P563P|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGTGGGGAGGGAGGAGAGG	0.577													.|||	1524	0.304313	0.2405	0.2262	5008	,	,		13329	0.5546		0.2356	False		,,,				2504	0.2587					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1687-1689)ccC>ccT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754946G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-150C>T	19.37:g.54754946G>A						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	p.P563P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1766	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		570					Q8N760	Silent	SNP	ENST00000316219.5	37	c.1689C>T	CCDS12885.1																																																																																				0.577	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			3	21	0	0	0	1	0	3	21				
IL17RB	55540	broad.mit.edu	37	3	53898851	53898851	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr3:53898851T>C	ENST00000288167.3	+	11	1034	c.1025T>C	c.(1024-1026)aTa>aCa	p.I342T		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	342	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCATCTGAAATATGTTTCCAT	0.393																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(1024-1026)aTa>aCa		interleukin 17 receptor B							131.0	125.0	127.0					3																	53898851		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898851T>C	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.1025T>C	3.37:g.53898851T>C	ENSP00000288167:p.Ile342Thr						p.I342T	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	1034	+			342			SEFIR.		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.1025T>C	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.383257	0.25031	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.28454	1.61;1.61	5.84	4.67	0.58626	SEFIR (1);	0.261257	0.31102	N	0.008245	T	0.29458	0.0734	M	0.63428	1.95	0.09310	N	1	P	0.43231	0.801	B	0.43990	0.438	T	0.13656	-1.0501	10	0.09590	T	0.72	-12.4256	8.0515	0.30581	0.0:0.1503:0.0:0.8497	.	342	Q9NRM6	I17RB_HUMAN	T	342;326	ENSP00000288167:I342T;ENSP00000418638:I326T	ENSP00000288167:I342T	I	+	2	0	IL17RB	53873891	0.003000	0.15002	0.416000	0.26546	0.998000	0.95712	0.892000	0.28322	2.230000	0.72887	0.528000	0.53228	ATA		0.393	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		5	86	0	0	0	1	0	5	86				
TNC	3371	broad.mit.edu	37	9	117849425	117849425	+	Silent	SNP	G	G	A			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr9:117849425G>A	ENST00000350763.4	-	3	996	c.585C>T	c.(583-585)caC>caT	p.H195H	TNC_ENST00000535648.1_Silent_p.H195H|TNC_ENST00000542877.1_Silent_p.H195H|TNC_ENST00000537320.1_Silent_p.H195H|TNC_ENST00000340094.3_Silent_p.H195H|TNC_ENST00000341037.4_Silent_p.H195H|TNC_ENST00000345230.3_Silent_p.H195H|TNC_ENST00000423613.2_Silent_p.H195H|TNC_ENST00000346706.3_Silent_p.H195H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	195	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGCCTCGAAGGTGACAGTTGC	0.622																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(583-585)caC>caT		tenascin C							108.0	95.0	99.0					9																	117849425		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849425G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.585C>T	9.37:g.117849425G>A						TNC_ENST00000535648.1_Silent_p.H195H|TNC_ENST00000542877.1_Silent_p.H195H|TNC_ENST00000341037.4_Silent_p.H195H|TNC_ENST00000537320.1_Silent_p.H195H|TNC_ENST00000346706.3_Silent_p.H195H|TNC_ENST00000340094.3_Silent_p.H195H|TNC_ENST00000345230.3_Silent_p.H195H|TNC_ENST00000423613.2_Silent_p.H195H	p.H195H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	996	-			195			EGF-like 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.585C>T	CCDS6811.1																																																																																				0.622	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		51	48	0	0	0	1	0	51	48				
DCTD	1635	broad.mit.edu	37	4	183815718	183815718	+	Silent	SNP	C	C	T			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr4:183815718C>T	ENST00000438320.2	-	4	575	c.285G>A	c.(283-285)tcG>tcA	p.S95S	DCTD_ENST00000510370.1_Silent_p.S95S|DCTD_ENST00000357067.3_Silent_p.S106S	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	95				S -> L (in Ref. 6; AAH01286). {ECO:0000305}.	nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	TCACATCGGTCGAATTTTTGT	0.438																																						ENST00000438320.2																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18						c.(283-285)tcG>tcA		dCMP deaminase							210.0	169.0	183.0					4																	183815718		2203	4300	6503	SO:0001819	synonymous_variant	1635				nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	g.chr4:183815718C>T	L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.285G>A	4.37:g.183815718C>T						DCTD_ENST00000357067.3_Silent_p.S106S|DCTD_ENST00000510370.1_Silent_p.S95S	p.S95S	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	4	575	-		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)	95	S -> L (in Ref. 6; AAH01286).				B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Silent	SNP	ENST00000438320.2	37	c.285G>A	CCDS3831.1																																																																																				0.438	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			14	33	0	0	0	1	0	14	33				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	29	0	0	0	1	0	4	29				
CEP120	153241	broad.mit.edu	37	5	122717833	122717833	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr5:122717833C>T	ENST00000306467.5	-	14	2379	c.2075G>A	c.(2074-2076)cGa>cAa	p.R692Q	CEP120_ENST00000328236.5_Missense_Mutation_p.R692Q|CEP120_ENST00000306481.6_Missense_Mutation_p.R666Q			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	692					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTCTCTTTCTCGGTCCCTTTT	0.363																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2074-2076)cGa>cAa		centrosomal protein 120kDa							135.0	133.0	134.0					5																	122717833		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122717833C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2075G>A	5.37:g.122717833C>T	ENSP00000303058:p.Arg692Gln					CEP120_ENST00000328236.5_Missense_Mutation_p.R692Q|CEP120_ENST00000306481.6_Missense_Mutation_p.R666Q	p.R692Q			Q8N960	CE120_HUMAN			14	2379	-			692					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2075G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369864	0.24771	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.1	3.29	0.37713	.	0.700034	0.14099	N	0.341506	T	0.31575	0.0801	L	0.32530	0.975	0.21782	N	0.999549	B	0.25743	0.133	B	0.16289	0.015	T	0.12630	-1.0540	10	0.21014	T	0.42	-7.3996	7.7009	0.28621	0.0:0.6864:0.0:0.3136	.	692	Q8N960	CE120_HUMAN	Q	692;692;666;666	ENSP00000303058:R692Q;ENSP00000327504:R692Q;ENSP00000307419:R666Q;ENSP00000421620:R666Q	ENSP00000303058:R692Q	R	-	2	0	CEP120	122745732	0.536000	0.26378	1.000000	0.80357	0.943000	0.58893	0.419000	0.21247	1.288000	0.44600	-0.225000	0.12378	CGA		0.363	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		22	27	0	0	0	1	0	22	27				
STIM1	6786	broad.mit.edu	37	11	4107718	4107718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr11:4107718C>T	ENST00000300737.4	+	11	2055	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q323*|STIM1_ENST00000527651.1_Nonsense_Mutation_p.Q496*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	496					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CCCTAGCCTGCAGAGCAGTGT	0.587																																						ENST00000300737.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1486-1488)Cag>Tag		stromal interaction molecule 1							37.0	34.0	35.0					11																	4107718		2201	4298	6499	SO:0001587	stop_gained	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4107718C>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1486C>T	11.37:g.4107718C>T	ENSP00000300737:p.Gln496*					STIM1_ENST00000527651.1_Nonsense_Mutation_p.Q496*|STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q323*	p.Q496*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	11	2055	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	496					E9PQJ4|Q8N382	Nonsense_Mutation	SNP	ENST00000300737.4	37	c.1486C>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325269	0.95708	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	.	.	.	5.33	5.33	0.75918	.	0.320665	0.35970	N	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-34.6079	14.517	0.67826	0.0:1.0:0.0:0.0	.	.	.	.	X	496;496;323	.	ENSP00000300737:Q496X	Q	+	1	0	STIM1	4064294	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.561000	0.45905	2.498000	0.84270	0.407000	0.27541	CAG		0.587	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		4	21	0	0	0	1	0	4	21				
KMT2D	8085	broad.mit.edu	37	12	49440047	49440047	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr12:49440047C>T	ENST00000301067.7	-	16	4578	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1527					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCTCACCGTTCACAGTGGCGG	0.542																																						ENST00000301067.7																			0											c.(4579-4581)Gaa>Aaa		lysine (K)-specific methyltransferase 2D							62.0	71.0	68.0					12																	49440047		2169	4277	6446	SO:0001583	missense	8085							g.chr12:49440047C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4579G>A	12.37:g.49440047C>T	ENSP00000301067:p.Glu1527Lys						p.E1527K	NM_003482.3	NP_003473.3					16	4578	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4579G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368330	0.61513	.	.	ENSG00000167548	ENST00000301067	T	0.63417	-0.04	5.22	5.22	0.72569	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.39687	N	0.001286	T	0.51244	0.1663	L	0.31476	0.935	0.52099	D	0.999942	P	0.49090	0.919	B	0.38378	0.272	T	0.61073	-0.7136	10	0.87932	D	0	.	17.5423	0.87851	0.0:1.0:0.0:0.0	.	1527	O14686	MLL2_HUMAN	K	1527	ENSP00000301067:E1527K	ENSP00000301067:E1527K	E	-	1	0	MLL2	47726314	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.487000	0.81328	2.434000	0.82447	0.655000	0.94253	GAA		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	18	0	0	0	1	0	12	18				
ERF	2077	broad.mit.edu	37	19	42753122	42753122	+	Missense_Mutation	SNP	G	G	A	rs1063897		TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr19:42753122G>A	ENST00000222329.4	-	4	1299	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.P306L	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	381				P -> R (in Ref. 1; AAA86686). {ECO:0000305}.	cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAGTGGGGGCGGCTGGAGCTT	0.692																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1141-1143)cCg>cTg		Ets2 repressor factor							33.0	43.0	40.0					19																	42753122		2000	4098	6098	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753122G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1142C>T	19.37:g.42753122G>A	ENSP00000222329:p.Pro381Leu					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.P306L	p.P381L	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1299	-		Prostate(69;0.00682)	381	P -> R (in Ref. 1; AAA86686).				B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1142C>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169817	0.57584	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.48201	1.93;0.82	4.01	4.01	0.46588	.	5.351290	0.00520	N	0.000180	T	0.69305	0.3096	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.53507	-0.8429	10	0.87932	D	0	.	14.016	0.64525	0.0:0.0:1.0:0.0	.	381	P50548	ERF_HUMAN	L	381;306	ENSP00000222329:P381L;ENSP00000388173:P306L	ENSP00000222329:P381L	P	-	2	0	ERF	47444962	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.532000	0.60608	2.220000	0.72140	0.655000	0.94253	CCG		0.692	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		11	140	0	0	0	1	0	11	140				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	43	0	0	0	1	0	3	43				
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	3						3	3	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59423492	59423492	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr11:59423492delA	ENST00000300146.9	-	7	834	c.750delT	c.(748-750)tttfs	p.F250fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	250	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CACTAGGAGGAAAAGGGTGAC	0.438																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(748-750)ttfs		protein associated with topoisomerase II homolog 1 (yeast)							14.0	14.0	14.0					11																	59423492		1821	4070	5891	SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59423492delA	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.750delT	11.37:g.59423492delA	ENSP00000300146:p.Phe250fs						p.F250fs	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			7	834	-			250			Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Del	DEL	ENST00000300146.9	37	c.750delT	CCDS44613.1																																																																																				0.438	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		2	4						2	4	---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114542718	114542718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr13:114542718delC	ENST00000327773.6	-	5	595	c.449delG	c.(448-450)ggcfs	p.G150fs	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Frame_Shift_Del_p.G150fs|GAS6_ENST00000355761.4_Frame_Shift_Del_p.G96fs	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	150	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCAGAGCCGGCCCCCCCAGCC	0.647																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(448-450)gcfs		growth arrest-specific 6							101.0	100.0	100.0					13																	114542718		2203	4300	6503	SO:0001589	frameshift_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114542718delC		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.449delG	13.37:g.114542718delC	ENSP00000331831:p.Gly150fs					GAS6_ENST00000355761.4_Frame_Shift_Del_p.G96fs|GAS6_ENST00000327773.6_Frame_Shift_Del_p.G150fs	p.G150fs			Q14393	GAS6_HUMAN			5	601	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	150			EGF-like 1; calcium-binding (Potential).		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Del	DEL	ENST00000327773.6	37	c.449delG	CCDS45072.1																																																																																				0.647	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		7	176						7	176	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53403272	53403273	+	RNA	INS	-	-	A			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr16:53403272_53403273insA	ENST00000565421.1	-	0	1344_1345																											gactccatctcaaaaaaaaaag	0.436																																						ENST00000565421.1																			0																																																			0							g.chr16:53403272_53403273insA																													16.37:g.53403282_53403282dupA														0	1344_1345	-									RNA	INS	ENST00000565421.1	37																																																																																						0.436	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			2	4						2	4	---	---	---	---
RP11-640N20.6	0	broad.mit.edu	37	17	30415976	30415976	+	RNA	DEL	A	A	-			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr17:30415976delA	ENST00000358484.4	+	0	144				RP11-640N20.8_ENST00000581225.1_RNA																							ATTGCAGGATAAATCTCTAGG	0.264																																						ENST00000581225.1																			0																																																			0							g.chr17:30415976delA																													17.37:g.30415976delA						RP11-640N20.6_ENST00000358484.4_RNA								0	151	-									RNA	DEL	ENST00000358484.4	37																																																																																						0.264	RP11-640N20.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000447090.1			2	4						2	4	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15272238	15272238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A2MX-01A-11D-A23M-08	TCGA-ET-A2MX-11C-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6818a84d-3c69-4a28-b435-cc24bc054277	598b09bc-2542-4146-89d3-fdbb1bbe1f60	g.chr19:15272238delG	ENST00000263388.2	-	33	6276	c.6201delC	c.(6199-6201)cccfs	p.P2067fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2067					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ccgccTTCCCGGGGGGCCTCC	0.751																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6199-6201)ccfs		notch 3							2.0	3.0	3.0					19																	15272238		1563	3406	4969	SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15272238delG	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6201delC	19.37:g.15272238delG	ENSP00000263388:p.Pro2067fs						p.P2067fs	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6276	-			2067					Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	c.6201delC	CCDS12326.1																																																																																				0.751	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		2	4						2	4	---	---	---	---
