#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
SLC12A3	6559	broad.mit.edu	37	16	56938317	56938317	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr16:56938317A>G	ENST00000563236.1	+	25	2892	c.2867A>G	c.(2866-2868)cAg>cGg	p.Q956R	SLC12A3_ENST00000566786.1_Missense_Mutation_p.Q964R|SLC12A3_ENST00000438926.2_Missense_Mutation_p.Q965R|SLC12A3_ENST00000262502.5_Missense_Mutation_p.Q955R			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	956					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCCTTCGGCAGGTGAGGCTG	0.537																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2893-2895)cAg>cGg		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						153.0	146.0	148.0					16																	56938317		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56938317A>G		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2867A>G	16.37:g.56938317A>G	ENSP00000456149:p.Gln956Arg					SLC12A3_ENST00000566786.1_Missense_Mutation_p.Q964R|SLC12A3_ENST00000262502.5_Missense_Mutation_p.Q955R|SLC12A3_ENST00000563236.1_Missense_Mutation_p.Q956R	p.Q965R	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			25	2923	+			956					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2894A>G	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576515	0.86645	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	M	0.88640	2.97	0.58432	D	0.999997	D;P;P	0.53745	0.962;0.695;0.798	P;B;P	0.52672	0.706;0.313;0.511	T	0.81475	-0.0916	9	0.56958	D	0.05	.	14.2153	0.65788	1.0:0.0:0.0:0.0	.	964;956;965	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	R	964;965	.	ENSP00000262502:Q965R	Q	+	2	0	SLC12A3	55495818	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.997000	0.93544	2.027000	0.59764	0.460000	0.39030	CAG		0.537	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			4	136	0	0	0	1	0	4	136				
EMID1	129080	broad.mit.edu	37	22	29628273	29628273	+	Silent	SNP	C	C	T			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr22:29628273C>T	ENST00000404820.3	+	8	832	c.705C>T	c.(703-705)ggC>ggT	p.G235G	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.G235G|EMID1_ENST00000334018.6_Silent_p.G235G			Q96A84	EMID1_HUMAN	EMI domain containing 1	233	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGAGCCCTGGCCGGGCTGGAG	0.697																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(703-705)ggC>ggT		EMI domain containing 1							22.0	28.0	26.0					22																	29628273		2164	4221	6385	SO:0001819	synonymous_variant	129080					collagen		g.chr22:29628273C>T	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.705C>T	22.37:g.29628273C>T						EMID1_ENST00000404755.3_Silent_p.G235G|EMID1_ENST00000404820.3_Silent_p.G235G|EMID1_ENST00000484039.1_3'UTR	p.G235G	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			8	893	+			233			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.705C>T		.	.	.	.	.	.	.	.	.	.	C	10.34	1.323237	0.24080	.	.	ENSG00000186998	ENST00000433143	.	.	.	4.85	3.75	0.43078	.	.	.	.	.	T	0.49167	0.1541	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44605	-0.9317	4	.	.	.	-11.5436	5.2502	0.15517	0.0:0.812:0.0:0.188	.	.	.	.	V	98	.	.	A	+	2	0	EMID1	27958273	0.426000	0.25506	0.999000	0.59377	0.969000	0.65631	0.070000	0.14573	2.249000	0.74217	0.555000	0.69702	GCC		0.697	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		4	69	0	0	0	1	0	4	69				
HIST1H2BK	85236	broad.mit.edu	37	6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr6:27114417C>T	ENST00000356950.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G54D|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(160-162)gGc>gAc		histone cluster 1, H2bk							106.0	96.0	99.0					6																	27114417		2203	4296	6499	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114417C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.161G>A	6.37:g.27114417C>T	ENSP00000349430:p.Gly54Asp					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	202	-			54					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.161G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.382839	0.82792	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.69435	-0.4;-0.4	4.05	3.14	0.36123	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.84817	0.5556	H	0.98487	4.245	0.46317	D	0.998988	D	0.71674	0.998	D	0.72075	0.976	D	0.89042	0.3449	9	0.87932	D	0	.	11.8762	0.52548	0.0:0.821:0.179:0.0	.	54	O60814	H2B1K_HUMAN	D	54	ENSP00000380100:G54D;ENSP00000349430:G54D	ENSP00000349430:G54D	G	-	2	0	HIST1H2BK	27222396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.198000	0.65147	0.961000	0.38030	0.650000	0.86243	GGC		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		5	293	0	0	0	1	0	5	293				
FOXA1	3169	broad.mit.edu	37	14	38060702	38060702	+	Silent	SNP	G	G	A			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr14:38060702G>A	ENST00000250448.2	-	2	1348	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	FOXA1_ENST00000540786.1_Silent_p.Y396Y|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	429					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGTAGAGCCGTAAGGCGAGT	0.607																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1285-1287)taC>taT		forkhead box A1							106.0	88.0	94.0					14																	38060702		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060702G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1287C>T	14.37:g.38060702G>A						FOXA1_ENST00000540786.1_Silent_p.Y396Y|FOXA1_ENST00000545425.2_5'UTR	p.Y429Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1348	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		429					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.1287C>T	CCDS9665.1																																																																																				0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	64	0	0	0	1	0	4	64				
MUC17	140453	broad.mit.edu	37	7	100681963	100681963	+	Silent	SNP	T	T	C			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr7:100681963T>C	ENST00000306151.4	+	3	7330	c.7266T>C	c.(7264-7266)gtT>gtC	p.V2422V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2422	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7264-7266)gtT>gtC		mucin 17, cell surface associated							373.0	361.0	365.0					7																	100681963		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681963T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7266T>C	7.37:g.100681963T>C							p.V2422V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7330	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2422			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7266T>C	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	588	0	0	0	1	0	5	588				
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr17:39274150T>A	ENST00000391413.2	-	1	456	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S140C(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672																																						ENST00000391413.2																			2	Substitution - Missense(2)	p.S140C(2)	prostate(1)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(418-420)Agc>Tgc		keratin associated protein 4-11							8.0	13.0	12.0					17																	39274150		686	1587	2273	SO:0001583	missense	653240					keratin filament		g.chr17:39274150T>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.418A>T	17.37:g.39274150T>A	ENSP00000375232:p.Ser140Cys						p.S140C	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	456	-		Breast(137;0.000496)	140			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.418A>T	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	6.114	0.389323	0.11581	.	.	ENSG00000212721	ENST00000391413	T	0.00832	5.64	3.95	-4.72	0.03269	.	.	.	.	.	T	0.00178	0.0005	N	0.00010	-3.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48139	-0.9061	9	0.02654	T	1	.	4.7994	0.13289	0.3484:0.2238:0.0:0.4278	.	140	Q9BYQ6	KR411_HUMAN	C	140	ENSP00000375232:S140C	ENSP00000375232:S140C	S	-	1	0	KRTAP4-11	36527676	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	0.038000	0.13862	-0.681000	0.05204	-0.924000	0.02725	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	53	0	0	0	1	0	5	53				
NBPF9	400818	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G	rs199822480	byFrequency	TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr1:144815953A>G	ENST00000440491.2	+	4	550	c.550A>G	c.(550-552)Aat>Gat	p.N184D	NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	442	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.N184D(2)		NS(2)|prostate(1)	3						CAACGATGACAATGAAGATGT	0.423													.|||	2409	0.48103	0.388	0.4496	5008	,	,		14195	0.755		0.4533	False		,,,				2504	0.3753					ENST00000440491.2																			2	Substitution - Missense(2)	p.N184D(2)	kidney(2)	NS(2)|prostate(1)	3						c.(550-552)Aat>Gat		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144815953A>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.550A>G	1.37:g.144815953A>G	ENSP00000390934:p.Asn184Asp					NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D	p.N184D	NM_001037675.2	NP_001032764.1					4	550	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.550A>G		.	.	.	.	.	.	.	.	.	.	.	0.004	-2.349402	0.00219	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.02323	4.34;4.34	0.723	0.723	0.18231	DUF1220 (1);	.	.	.	.	T	0.00328	0.0010	.	.	.	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	7	0.02654	T	1	.	3.2222	0.06720	0.3262:0.0:0.6738:0.0	.	442	Q3BBV1	NBPFK_HUMAN	D	184	ENSP00000342975:N184D;ENSP00000390934:N184D	ENSP00000342975:N184D	N	+	1	0	NBPF9	143527310	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-1.711000	0.01886	-0.094000	0.12374	-1.032000	0.02404	AAT		0.423	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		4	159	0	0	0	1	0	4	159				
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	39	0	0	0	1	0	4	39				
TMEM223	79064	broad.mit.edu	37	11	62559255	62559255	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr11:62559255delG	ENST00000307366.7	-	1	238	c.212delC	c.(211-213)ccgfs	p.P71fs	TMEM223_ENST00000525631.1_Frame_Shift_Del_p.P71fs|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000533048.1_5'Flank	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	71						integral component of membrane (GO:0016021)											CACCGGAACCGGGGGCCGGGA	0.706																																						ENST00000307366.7																			0											c.(211-213)cgfs		transmembrane protein 223							11.0	19.0	16.0					11																	62559255		1848	4047	5895	SO:0001589	frameshift_variant	79064					integral to membrane		g.chr11:62559255delG		CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.212delC	11.37:g.62559255delG	ENSP00000303987:p.Pro71fs					TMEM223_ENST00000525631.1_Frame_Shift_Del_p.P71fs	p.P71fs	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN			1	238	-			71					Q504S0|Q86YD4|Q8WUC5|Q96HG0	Frame_Shift_Del	DEL	ENST00000307366.7	37	c.212delC	CCDS44628.1																																																																																				0.706	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395674.1			2	4						2	4	---	---	---	---
ALDH3B1	221	broad.mit.edu	37	11	67782802	67782802	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr11:67782802delG	ENST00000539229.1	+	2	151	c.35delG	c.(34-36)cggfs	p.R12fs	ALDH3B1_ENST00000316367.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000342456.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Frame_Shift_Del_p.R12fs	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	12					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CGGCGACTGCGGGAGGCCTTC	0.687																																						ENST00000539229.1																			0											c.(34-36)cgfs		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)						7.0	9.0	9.0					11																	67782802		1974	4062	6036	SO:0001589	frameshift_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67782802delG	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.35delG	11.37:g.67782802delG	ENSP00000474034:p.Arg12fs					ALDH3B1_ENST00000316367.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000342456.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Frame_Shift_Del_p.R12fs	p.R12fs	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			2	151	+			12					A3FMP9|Q53XL5|Q8N515|Q96CK8	Frame_Shift_Del	DEL	ENST00000539229.1	37	c.35delG																																																																																					0.687	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		2	4						2	4	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	-	TGGGTCC			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr15:79058183_79058184insTGGGTCC	ENST00000388820.4	-	19	4279_4280	c.4069_4070insGGACCCA	c.(4069-4071)aagfs	p.K1357fs	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1357					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGCTGACCCTTGGGTCCTGGG	0.653																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4069-4071)gggfs		ADAM metallopeptidase with thrombospondin type 1 motif, 7				119,2525		11,97,1214						-5.9	0.0			8	119,5765		2,115,2825	no	frameshift	ADAMTS7	NM_014272.3		13,212,4039	A1A1,A1R,RR		2.0224,4.5008,2.7908				238,8290				SO:0001589	frameshift_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058183_79058184insTGGGTCC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4063_4069dupGGACCCA	15.37:g.79058184_79058190dupTGGGTCC	ENSP00000373472:p.Lys1357fs						p.-1357fs	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	4279_4280	-								Q14F51|Q6P7J9	Frame_Shift_Ins	INS	ENST00000388820.4	37	c.4069_4070insGGACCCA	CCDS32303.1																																																																																				0.653	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		7	25						7	25	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433																																						ENST00000400873.3																			0																																																			0							g.chr17:62750914delT																													17.37:g.62750914delT								NR_026899.1						0	1841	-									RNA	DEL	ENST00000400873.3	37																																																																																						0.433	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
