#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
ZNF185	7739	broad.mit.edu	37	X	152085712	152085712	+	Splice_Site	SNP	C	C	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chrX:152085712C>A	ENST00000370268.4	+	4	299	c.262C>A	c.(262-264)Cgg>Agg	p.R88R	ZNF185_ENST00000449285.2_Splice_Site_p.R88R|ZNF185_ENST00000539731.1_Splice_Site_p.R88R|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000535861.1_Splice_Site_p.R88R|ZNF185_ENST00000318504.7_Splice_Site_p.R88R|ZNF185_ENST00000370270.2_Splice_Site_p.R88R|ZNF185_ENST00000318529.8_5'Flank			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	88						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CTACATCATCCGGTAAGTGAC	0.622																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.e4+1		zinc finger protein 185 (LIM domain)							69.0	73.0	72.0					X																	152085712		2067	4177	6244	SO:0001630	splice_region_variant	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152085712C>A	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.263+1C>A	X.37:g.152085712C>A						ZNF185_ENST00000539731.1_Splice_Site_p.R88_splice|ZNF185_ENST00000318504.7_Splice_Site_p.R88_splice|ZNF185_ENST00000449285.2_Splice_Site_p.R88_splice|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Splice_Site_p.R88_splice	p.R88_splice	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			4	310	+	Acute lymphoblastic leukemia(192;6.56e-05)		88					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Splice_Site	SNP	ENST00000370268.4	37	c.263_splice	CCDS48184.1																																																																																				0.622	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	Silent	3	29	1	0	0.004672	1	0.00511695	3	29				
LAMA3	3909	broad.mit.edu	37	18	21523936	21523936	+	Splice_Site	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr18:21523936G>A	ENST00000313654.9	+	69	9451		c.e69+1		LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATGGCACACGGTAAGAGCTGG	0.478																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	GRCh37	CS020062	LAMA3	S		c.e69+1		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						63.0	56.0	58.0					18																	21523936		2203	4300	6503	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21523936G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9210+1G>A	18.37:g.21523936G>A						LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site		NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			69	9451	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)							B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	ENST00000313654.9	37		CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073374	0.76415	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5778	0.91161	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19777934	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.408000	0.80041	2.617000	0.88574	0.655000	0.94253	.		0.478	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Intron	3	20	0	0	0	1	0	3	20				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		4	23	0	0	0	1	0	4	23				
ELTD1	64123	broad.mit.edu	37	1	79401981	79401981	+	Splice_Site	SNP	A	A	T			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr1:79401981A>T	ENST00000370742.3	-	7	939	c.876T>A	c.(874-876)aaT>aaA	p.N292K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	292					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGTCCTACCATTTGAATCAT	0.269																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.e7+1		EGF, latrophilin and seven transmembrane domain containing 1							106.0	112.0	110.0					1																	79401981		1807	4027	5834	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79401981A>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.877+1T>A	1.37:g.79401981A>T							p.N292_splice	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	7	939	-			292					B1AR71|Q5KU34	Splice_Site	SNP	ENST00000370742.3	37	c.877_splice	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	9.222	1.033608	0.19590	.	.	ENSG00000162618	ENST00000370742	T	0.10477	2.87	5.86	-2.41	0.06562	Domain of unknown function DUF3497 (1);	0.391187	0.31519	N	0.007512	T	0.02012	0.0063	L	0.43923	1.385	0.30146	N	0.803503	B	0.18166	0.026	B	0.27500	0.08	T	0.43410	-0.9393	9	.	.	.	.	0.8723	0.01217	0.471:0.1151:0.192:0.2219	.	292	Q9HBW9	ELTD1_HUMAN	K	292	ENSP00000359778:N292K	.	N	-	3	2	ELTD1	79174569	0.969000	0.33509	0.037000	0.18230	0.059000	0.15707	1.091000	0.30915	-0.369000	0.08028	0.533000	0.62120	AAT		0.269	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Missense_Mutation	8	63	0	0	0	1	0	8	63				
SCNN1B	6338	broad.mit.edu	37	16	23387059	23387059	+	Splice_Site	SNP	G	G	T			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr16:23387059G>T	ENST00000343070.2	+	8	1329	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	SCNN1B_ENST00000568085.1_Splice_Site_p.A349S|SCNN1B_ENST00000568923.1_Splice_Site_p.A358S|SCNN1B_ENST00000307331.5_Splice_Site_p.A430S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	385					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTCCCCAGGCCTGTCTTCG	0.557																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.e8-1		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						186.0	150.0	162.0					16																	23387059		2197	4300	6497	SO:0001630	splice_region_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23387059G>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1153-1G>T	16.37:g.23387059G>T						SCNN1B_ENST00000568085.1_Splice_Site_p.A349_splice|SCNN1B_ENST00000568923.1_Splice_Site_p.A358_splice|SCNN1B_ENST00000307331.5_Splice_Site_p.A430_splice	p.A385_splice	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	8	1329	+			385					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Splice_Site	SNP	ENST00000343070.2	37	c.1152_splice	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	g	13.34	2.208992	0.39003	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.66815	-0.23;-0.23	4.76	4.76	0.60689	Na+ channel, amiloride-sensitive, conserved site (1);	0.472610	0.20949	N	0.082787	T	0.62417	0.2426	L	0.43554	1.36	0.58432	D	0.999995	B	0.32876	0.388	B	0.40506	0.331	T	0.58994	-0.7537	9	.	.	.	-13.5574	12.2562	0.54625	0.0:0.0:0.8301:0.1699	.	385	P51168	SCNNB_HUMAN	S	385;430	ENSP00000345751:A385S;ENSP00000302874:A430S	.	A	+	1	0	SCNN1B	23294560	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.131000	0.57970	2.343000	0.79666	0.651000	0.88453	GCC		0.557	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		Missense_Mutation	4	68	1	0	0.0215528	1	0.0215528	4	68				
ZNF417	147687	broad.mit.edu	37	19	58420525	58420525	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:58420525T>C	ENST00000312026.5	-	3	1285	c.1121A>G	c.(1120-1122)cAc>cGc	p.H374R	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.H175R|ZNF417_ENST00000595559.1_Missense_Mutation_p.H373R	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TTCTCCAGTGTGAACACGCTG	0.463																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1120-1122)cAc>cGc		zinc finger protein 417							133.0	125.0	128.0					19																	58420525		2203	4300	6503	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420525T>C	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1121A>G	19.37:g.58420525T>C	ENSP00000311319:p.His374Arg					CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.H175R|ZNF417_ENST00000595559.1_Missense_Mutation_p.H373R	p.H374R	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1285	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	374					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.1121A>G	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	15.93	2.978987	0.53827	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.67523	-0.27;-0.27	1.66	1.66	0.24008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83390	0.5244	H	0.94423	3.535	0.30241	N	0.795025	P;D	0.67145	0.469;0.996	B;D	0.69824	0.329;0.966	T	0.77175	-0.2684	9	0.87932	D	0	.	7.3804	0.26851	0.0:0.0:0.0:1.0	.	374;374	F5H0M9;Q8TAU3	.;ZN417_HUMAN	R	374;175	ENSP00000311319:H374R;ENSP00000442760:H175R	ENSP00000311319:H374R	H	-	2	0	ZNF417	63112337	1.000000	0.71417	0.031000	0.17742	0.115000	0.19883	1.968000	0.40500	1.025000	0.39708	0.254000	0.18369	CAC		0.463	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		30	79	0	0	0	1	0	30	79				
RP11-481J13.1	0	broad.mit.edu	37	2	56216166	56216166	+	lincRNA	SNP	A	A	T			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr2:56216166A>T	ENST00000606639.1	+	0	82				MIR216A_ENST00000385063.1_RNA|AC011306.2_ENST00000446139.1_lincRNA																							CACAGTTGCCAGCTGAGATTA	0.483																																						ENST00000606639.1																			0																				140.0	124.0	129.0					2																	56216166		1568	3582	5150			0							g.chr2:56216166A>T																													2.37:g.56216166A>T						MIR216A_ENST00000385063.1_RNA|AC011306.2_ENST00000446139.1_lincRNA								0	82	+									RNA	SNP	ENST00000606639.1	37																																																																																						0.483	RP11-481J13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470754.1			8	88	0	0	0	1	0	8	88				
UGT8	7368	broad.mit.edu	37	4	115544471	115544471	+	Silent	SNP	T	T	C			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr4:115544471T>C	ENST00000310836.6	+	2	957	c.435T>C	c.(433-435)ttT>ttC	p.F145F	UGT8_ENST00000394511.3_Silent_p.F145F	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	145					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGTGTGGATTTGTGATAGCTC	0.463																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(433-435)ttT>ttC		UDP glycosyltransferase 8							172.0	167.0	169.0					4																	115544471		2203	4300	6503	SO:0001819	synonymous_variant	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544471T>C	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.435T>C	4.37:g.115544471T>C						UGT8_ENST00000394511.3_Silent_p.F145F	p.F145F	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	957	+		Ovarian(17;0.156)	145					B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	c.435T>C	CCDS3705.1																																																																																				0.463	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		4	129	0	0	0	1	0	4	129				
SHKBP1	92799	broad.mit.edu	37	19	41094581	41094581	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:41094581G>A	ENST00000291842.5	+	14	1437	c.1388G>A	c.(1387-1389)gGc>gAc	p.G463D	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G438D|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	463					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCTTCCGCGGCATGATTTCC	0.607																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1387-1389)gGc>gAc		SH3KBP1 binding protein 1							153.0	138.0	143.0					19																	41094581		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41094581G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1388G>A	19.37:g.41094581G>A	ENSP00000291842:p.Gly463Asp					SHKBP1_ENST00000600733.1_Missense_Mutation_p.G438D|SHKBP1_ENST00000597649.1_3'UTR	p.G463D	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		14	1437	+			463					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1388G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240886	0.79912	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.75589	-0.95	4.21	3.17	0.36434	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.86178	2.8	0.80722	D	1	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.95;1.0;0.957	D;D;D;P;D;P	0.97110	1.0;1.0;0.999;0.752;0.999;0.711	D	0.86888	0.2046	10	0.87932	D	0	-0.906	11.1437	0.48417	0.0927:0.0:0.9073:0.0	.	341;243;386;300;463;463	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	D	463;243	ENSP00000291842:G463D	ENSP00000291842:G463D	G	+	2	0	SHKBP1	45786421	1.000000	0.71417	0.976000	0.42696	0.913000	0.54294	9.141000	0.94612	0.989000	0.38761	0.462000	0.41574	GGC		0.607	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		4	83	0	0	0	1	0	4	83				
AHRR	57491	broad.mit.edu	37	5	434411	434411	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr5:434411C>T	ENST00000505113.1	+	11	1612	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	AHRR_ENST00000506456.1_Missense_Mutation_p.P379L|AHRR_ENST00000512529.1_Missense_Mutation_p.P369L|AHRR_ENST00000316418.5_Missense_Mutation_p.P541L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	523					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCGATGCCTCCGGGGGACCTG	0.617																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1621-1623)cCg>cTg		aryl-hydrocarbon receptor repressor							68.0	75.0	73.0					5																	434411		2202	4299	6501	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434411C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1568C>T	5.37:g.434411C>T	ENSP00000424601:p.Pro523Leu					AHRR_ENST00000506456.1_Missense_Mutation_p.P379L|AHRR_ENST00000505113.1_Missense_Mutation_p.P523L|AHRR_ENST00000512529.1_Missense_Mutation_p.P369L	p.P541L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1666	+			523					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1622C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090857	0.20471	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.50277	2.15;2.15;1.85;1.85;0.75	4.27	-1.12	0.09808	.	1.214040	0.05658	N	0.586331	T	0.27489	0.0675	N	0.17082	0.46	0.09310	N	1	B;B;B	0.34255	0.059;0.013;0.445	B;B;B	0.22386	0.012;0.003;0.039	T	0.12734	-1.0536	10	0.36615	T	0.2	.	8.6194	0.33851	0.0:0.5175:0.0:0.4825	.	379;523;541	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	L	523;541;369;379;178	ENSP00000424601:P523L;ENSP00000323816:P541L;ENSP00000424880:P369L;ENSP00000426932:P379L;ENSP00000426076:P178L	ENSP00000323816:P541L	P	+	2	0	AHRR	487411	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.511000	0.22739	-0.542000	0.06249	-0.241000	0.12123	CCG		0.617	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		5	15	0	0	0	1	0	5	15				
C1orf86	199990	broad.mit.edu	37	1	2125338	2125338	+	Silent	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr1:2125338G>A	ENST00000378546.4	-	3	234	c.210C>T	c.(208-210)tgC>tgT	p.C70C	C1orf86_ENST00000378545.3_Silent_p.C173C|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	70					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTCCGGGCCGCACCTGGGCT	0.652																																						ENST00000378545.3																			0				central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(517-519)tgC>tgT		chromosome 1 open reading frame 86							46.0	55.0	52.0					1																	2125338		2202	4300	6502	SO:0001819	synonymous_variant	199990							g.chr1:2125338G>A	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.210C>T	1.37:g.2125338G>A						C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378546.4_Silent_p.C70C	p.C173C			Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	518	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	70					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Silent	SNP	ENST00000378546.4	37	c.519C>T	CCDS38.2	.	.	.	.	.	.	.	.	.	.	G	9.490	1.100497	0.20552	.	.	ENSG00000162585	ENST00000378543;ENST00000420515	T	0.46063	0.88	2.95	0.662	0.17880	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.09310	N	0.999999	P	0.46952	0.887	B	0.37780	0.258	T	0.27971	-1.0058	8	0.87932	D	0	-4.2572	0.8829	0.01238	0.1591:0.2301:0.3774:0.2334	.	66	Q6ZRT9	.	V	25;70	ENSP00000367804:A25V	ENSP00000367804:A25V	A	-	2	0	C1orf86	2115198	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.339000	0.07832	0.500000	0.27991	0.462000	0.41574	GCG		0.652	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		3	37	0	0	0	1	0	3	37				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	75	0	0	0	1	0	5	75				
NFE2L2	4780	broad.mit.edu	37	2	178095647	178095647	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr2:178095647G>A	ENST00000397062.3	-	5	2238	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	562					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAACTTCGAGATATAAGGTG	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1684-1686)Ctc>Ttc		nuclear factor, erythroid 2-like 2							208.0	188.0	194.0					2																	178095647		1854	4092	5946	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095647G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1684C>T	2.37:g.178095647G>A	ENSP00000380252:p.Leu562Phe	HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F	p.L562F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2238	-			562					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1684C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138408	0.56936	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151	T;T;T	0.18502	2.22;2.21;2.21	6.03	6.03	0.97812	.	0.253980	0.41823	D	0.000815	T	0.31420	0.0796	L	0.57536	1.79	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.56916	0.809;0.809	T	0.00333	-1.1810	10	0.28530	T	0.3	-6.0507	14.5599	0.68128	0.0:0.0:0.7434:0.2566	.	539;562	E9PGJ7;Q16236	.;NF2L2_HUMAN	F	546;562;539	ENSP00000380253:L546F;ENSP00000380252:L562F;ENSP00000411575:L539F	ENSP00000380252:L562F	L	-	1	0	NFE2L2	177803893	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.642000	0.67888	2.881000	0.98747	0.650000	0.86243	CTC		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		19	90	0	0	0	1	0	19	90				
ANKRD44	91526	broad.mit.edu	37	2	197987396	197987396	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr2:197987396T>C	ENST00000328737.2	-	7	672	c.596A>G	c.(595-597)cAt>cGt	p.H199R	ANKRD44_ENST00000337207.5_Missense_Mutation_p.H199R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H216R|ANKRD44_ENST00000450567.1_Missense_Mutation_p.H199R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H152R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H224R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	224										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCAGGAGATGCTTGACAAC	0.438																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(595-597)cAt>cGt		ankyrin repeat domain 44							126.0	102.0	110.0					2																	197987396		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197987396T>C	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.596A>G	2.37:g.197987396T>C	ENSP00000331516:p.His199Arg					ANKRD44_ENST00000450567.1_Missense_Mutation_p.H199R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H199R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H216R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H152R	p.H199R			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		7	672	-			224					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.596A>G		.	.	.	.	.	.	.	.	.	.	T	13.25	2.181141	0.38511	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.06;-0.06;-0.06;-0.07;-0.06;-0.06	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	N	0.16567	0.415	0.41821	D	0.99002	B;P	0.40398	0.0;0.716	B;B	0.36567	0.006;0.228	T	0.54016	-0.8356	10	0.49607	T	0.09	.	15.2874	0.73838	0.0:0.0:0.0:1.0	.	152;224	F5H682;Q8N8A2-3	.;.	R	21;216;199;199;199;224;152;224	ENSP00000403415:H21R;ENSP00000282272:H216R;ENSP00000331516:H199R;ENSP00000402420:H199R;ENSP00000338794:H199R;ENSP00000387141:H224R;ENSP00000437825:H152R;ENSP00000387233:H224R	ENSP00000282272:H216R	H	-	2	0	ANKRD44	197695641	1.000000	0.71417	0.992000	0.48379	0.902000	0.53008	4.760000	0.62235	2.248000	0.74166	0.459000	0.35465	CAT		0.438	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		6	62	0	0	0	1	0	6	62				
DCN	1634	broad.mit.edu	37	12	91550888	91550888	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr12:91550888G>A	ENST00000052754.5	-	5	1117	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.R206C|DCN_ENST00000441303.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.R97C|DCN_ENST00000393155.1_Missense_Mutation_p.R206C|DCN_ENST00000228329.5_Missense_Mutation_p.R97C|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	206					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCAGCAATGCGGATGTAGGAG	0.378																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(616-618)Cgc>Tgc		decorin							137.0	131.0	133.0					12																	91550888		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91550888G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.616C>T	12.37:g.91550888G>A	ENSP00000052754:p.Arg206Cys					DCN_ENST00000393155.1_Missense_Mutation_p.R206C|DCN_ENST00000552962.1_Missense_Mutation_p.R206C|DCN_ENST00000420120.2_Missense_Mutation_p.R97C|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.R97C|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron	p.R206C	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			5	1117	-			206					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.616C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250378	0.80024	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.58060	0.36;3.57;0.36;0.36;3.57	5.69	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81324	-0.0984	10	0.72032	D	0.01	.	16.085	0.81038	0.0:0.0:0.8656:0.1344	.	206;97	P07585;P07585-2	PGS2_HUMAN;.	C	206;97;206;206;97	ENSP00000052754:R206C;ENSP00000228329:R97C;ENSP00000376862:R206C;ENSP00000447654:R206C;ENSP00000413723:R97C	ENSP00000052754:R206C	R	-	1	0	DCN	90075019	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.175000	0.71949	2.666000	0.90696	0.585000	0.79938	CGC		0.378	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		4	77	0	0	0	1	0	4	77				
OSMR	9180	broad.mit.edu	37	5	38904125	38904128	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr5:38904125_38904128delAAGT	ENST00000274276.3	+	8	1535_1536	c.1133_1134delAAGT	c.(1132-1134)caa>c	p.Q378fs		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	378	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAATGATGCAAGTAAGAACCCTG	0.343																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.e8+1		oncostatin M receptor																																				SO:0001630	splice_region_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38904125_38904128delAAGT	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1134+1AAGT>-	5.37:g.38904125_38904128delAAGT							p.378_splice	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			8	1535_1536	+	all_lung(31;0.000365)		378			Fibronectin type-III 1.		Q6P4E8|Q96QJ6	Splice_Site	DEL	ENST00000274276.3	37	c.1134_splice	CCDS3928.1																																																																																				0.343	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	Frame_Shift_Del	11	25						11	25	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3594163	3594163	+	RNA	DEL	A	A	-	rs60164526		TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3																																						197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3594163delA	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3594163delA						NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	3261	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	DEL	ENST00000301749.7	37																																																																																						0.488	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		3	4						3	4	---	---	---	---
NDUFS7	374291	broad.mit.edu	37	19	1395440	1395440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:1395440delA	ENST00000233627.9	+	8	891	c.595delA	c.(595-597)aggfs	p.R199fs	AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000313408.7_3'UTR|AC005329.7_ENST00000585596.1_RNA|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	199					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	GCAGCTGCAGAGGAAGATCAA	0.706																																						ENST00000233627.9																			0				ovary(1)	1						c.(595-597)ggfs		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						23.0	21.0	22.0					19																	1395440		2192	4283	6475	SO:0001589	frameshift_variant	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1395440delA	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.595delA	19.37:g.1395440delA	ENSP00000233627:p.Arg199fs					NDUFS7_ENST00000313408.7_3'UTR|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000540530.1_3'UTR	p.R199fs	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	891	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	199					B3KRI2|Q2T9H7|Q9BV17	Frame_Shift_Del	DEL	ENST00000233627.9	37	c.595delA	CCDS12063.1																																																																																				0.706	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		2	4						2	4	---	---	---	---
