#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EFNA3	1944	broad.mit.edu	37	1	155057707	155057707	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr1:155057707T>C	ENST00000368408.3	+	2	339	c.269T>C	c.(268-270)aTg>aCg	p.M90T	EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T|EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T|EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	90	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCTGTACATGGTGAGCCGC	0.677																																						ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(268-270)aTg>aCg		ephrin-A3							17.0	20.0	19.0					1																	155057707		2198	4295	6493	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155057707T>C	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.269T>C	1.37:g.155057707T>C	ENSP00000357393:p.Met90Thr					EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T|EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T|EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T	p.M90T	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	339	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		90					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.269T>C	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412972	0.62511	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.38	5.38	0.77491	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	M	0.88105	2.93	0.58432	D	0.999995	D;D;D	0.76494	0.977;0.999;0.996	D;D;D	0.85130	0.979;0.997;0.993	D	0.97398	0.9994	10	0.87932	D	0	-3.4517	13.3327	0.60497	0.0:0.0:0.0:1.0	.	90;85;90	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	T	85;90;90;85	ENSP00000450814:M85T;ENSP00000357393:M90T;ENSP00000391370:M90T;ENSP00000426741:M85T	ENSP00000357393:M90T	M	+	2	0	RP11-540D14.8;EFNA3	153324331	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	7.698000	0.84413	2.050000	0.60909	0.459000	0.35465	ATG		0.677	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		5	19	5	19	---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191851586	191851586	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:191851586C>T	ENST00000361099.3	-	14	1602	c.1215G>A	c.(1213-1215)cgG>cgA	p.R405R	STAT1_ENST00000392323.2_Silent_p.R407R|STAT1_ENST00000392322.3_Silent_p.R405R|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.R405R	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	405					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTACCAGGTGCCGAAATTCAG	0.458																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1213-1215)cgG>cgA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						239.0	248.0	245.0					2																	191851586		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191851586C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1215G>A	2.37:g.191851586C>T						STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.R405R|STAT1_ENST00000392323.2_Silent_p.R407R|STAT1_ENST00000392322.3_Silent_p.R405R	p.R405R	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		14	1602	-			405					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1215G>A	CCDS2309.1																																																																																				0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		4	214	4	214	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210560413	210560413	+	Missense_Mutation	SNP	A	A	G	rs201672675		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:210560413A>G	ENST00000360351.4	+	7	4025	c.3519A>G	c.(3517-3519)atA>atG	p.I1173M	MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1173					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGTGGAAATACCTTGCCCAC	0.443																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3517-3519)atA>atG		microtubule-associated protein 2	Estramustine(DB01196)						69.0	64.0	66.0					2																	210560413		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560413A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3519A>G	2.37:g.210560413A>G	ENSP00000353508:p.Ile1173Met					MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	p.I1173M	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4025	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1173					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3519A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	8.616	0.890356	0.17613	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25414	1.8;1.8	5.83	-2.35	0.06684	MAP2/Tau projection (1);	0.410508	0.23026	N	0.052781	T	0.20007	0.0481	L	0.36672	1.1	0.09310	N	1	B;B	0.33826	0.374;0.427	B;P	0.45998	0.366;0.5	T	0.20273	-1.0280	10	0.45353	T	0.12	-7.0052	0.6765	0.00867	0.3451:0.2583:0.1101:0.2865	.	1169;1173	P11137-3;P11137	.;MAP2_HUMAN	M	1173;1169	ENSP00000353508:I1173M;ENSP00000392164:I1169M	ENSP00000353508:I1173M	I	+	3	3	MAP2	210268658	0.000000	0.05858	0.982000	0.44146	0.878000	0.50629	-0.440000	0.06888	-0.136000	0.11475	0.528000	0.53228	ATA		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	33	21	33	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14545076	14545076	+	RNA	SNP	C	C	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:14545076C>A	ENST00000273083.3	-	0	2741							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCCATACCTCCAGTTCCCTC	0.617																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							28.0	32.0	31.0					3																	14545076		2107	4211	6318			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14545076C>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14545076C>A										Q9C0E4	GRIP2_HUMAN			0	2741	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		5	12	5	12	---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130698121	130698121	+	Silent	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:130698121G>T	ENST00000510168.1	+	19	2149	c.1599G>T	c.(1597-1599)ctG>ctT	p.L533L	ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000359644.3_Silent_p.L533L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000533801.2_Silent_p.L528L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	533					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCCTGAACTGGGACAGCTGA	0.383									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1597-1599)ctG>ctT		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						133.0	129.0	130.0					3																	130698121		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130698121G>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1599G>T	3.37:g.130698121G>T						ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000533801.2_Silent_p.L528L|ATP2C1_ENST00000359644.3_Silent_p.L533L	p.L533L			P98194	AT2C1_HUMAN			19	2149	+			533					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.1599G>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012284	0.19277	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.68	3.76	0.43208	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53422	-0.8441	4	.	.	.	.	7.7177	0.28715	0.0778:0.0:0.5184:0.4038	.	.	.	.	L	487	.	.	W	+	2	0	ATP2C1	132180811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	1.366000	0.46076	0.655000	0.94253	TGG		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		17	111	17	111	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167045902	167045902	+	Silent	SNP	T	T	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:167045902T>C	ENST00000392766.2	-	11	1030	c.690A>G	c.(688-690)gtA>gtG	p.V230V	ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.V230V|ZBBX_ENST00000392767.2_Silent_p.V230V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	230						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTAATTTCTACCTAATTAA	0.323																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(688-690)gtA>gtG		zinc finger, B-box domain containing							153.0	137.0	142.0					3																	167045902		1838	4087	5925	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167045902T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.690A>G	3.37:g.167045902T>C						ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.V230V	p.V230V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			11	1030	-			230					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.690A>G	CCDS3199.2																																																																																				0.323	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		34	86	34	86	---	---	---	---
SORCS2	57537	broad.mit.edu	37	4	7741958	7741958	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr4:7741958C>T	ENST00000507866.2	+	27	3556	c.3447C>T	c.(3445-3447)aaC>aaT	p.N1149N	SORCS2_ENST00000329016.9_Silent_p.N992N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1149					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAGCATCAACTCCCGAGAGA	0.612																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3445-3447)aaC>aaT		sortilin-related VPS10 domain containing receptor 2							47.0	52.0	50.0					4																	7741958		2073	4195	6268	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7741958C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.3447C>T	4.37:g.7741958C>T						SORCS2_ENST00000329016.9_Silent_p.N992N	p.N1149N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			27	3556	+			1149					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.3447C>T	CCDS47008.1																																																																																				0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	9	7	9	---	---	---	---
GZMK	3003	broad.mit.edu	37	5	54327292	54327292	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:54327292G>A	ENST00000231009.2	+	4	534	c.464G>A	c.(463-465)gGa>gAa	p.G155E	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	155	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACTGGCTGGGGAGCCACCGAT	0.443																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(463-465)gGa>gAa		granzyme K (granzyme 3; tryptase II)							86.0	89.0	88.0					5																	54327292		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54327292G>A	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.464G>A	5.37:g.54327292G>A	ENSP00000231009:p.Gly155Glu					CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	p.G155E	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			4	534	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	155			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.464G>A	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083239	0.76642	.	.	ENSG00000113088	ENST00000231009	D	0.93547	-3.24	5.16	4.27	0.50696	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.064055	0.64402	D	0.000007	D	0.98160	0.9392	H	0.99600	4.65	0.44309	D	0.997181	D	0.89917	1.0	D	0.97110	1.0	D	0.98147	1.0439	10	0.87932	D	0	.	13.0868	0.59146	0.0807:0.0:0.9193:0.0	.	155	P49863	GRAK_HUMAN	E	155	ENSP00000231009:G155E	ENSP00000231009:G155E	G	+	2	0	GZMK	54363049	1.000000	0.71417	0.977000	0.42913	0.907000	0.53573	4.376000	0.59556	2.689000	0.91719	0.655000	0.94253	GGA		0.443	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		22	49	22	49	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121187964	121187964	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:121187964C>T	ENST00000321339.1	+	1	315	c.306C>T	c.(304-306)tcC>tcT	p.S102S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	102	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		ATTACTTCTCCCGGGATGACG	0.577																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(304-306)tcC>tcT		ferritin mitochondrial							84.0	66.0	72.0					5																	121187964		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187964C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.306C>T	5.37:g.121187964C>T							p.S102S	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	315	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	102			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.306C>T	CCDS4128.1																																																																																				0.577	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		4	47	4	47	---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2752291	2752291	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr7:2752291G>T	ENST00000312371.4	+	7	1644	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	426							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GGCAGAGGAGGACCTGGTGCA	0.697																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1276-1278)Gac>Tac		archaelysin family metallopeptidase 1							46.0	44.0	45.0					7																	2752291		2202	4298	6500	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752291G>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1276G>T	7.37:g.2752291G>T	ENSP00000308149:p.Asp426Tyr					AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	p.D426Y	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1644	+		Ovarian(82;0.0779)	426					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1276G>T	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561899	0.27915	.	.	ENSG00000174945	ENST00000312371	T	0.25085	1.82	4.67	4.67	0.58626	.	0.102732	0.42294	D	0.000738	T	0.16085	0.0387	N	0.08118	0	0.80722	D	1	B	0.18166	0.026	B	0.19666	0.026	T	0.07404	-1.0774	10	0.87932	D	0	-26.0979	15.3648	0.74513	0.0:0.0:1.0:0.0	.	426	Q400G9	AMZ1_HUMAN	Y	426	ENSP00000308149:D426Y	ENSP00000308149:D426Y	D	+	1	0	AMZ1	2718817	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	3.363000	0.52321	2.133000	0.65898	0.462000	0.41574	GAC		0.697	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		20	6	20	6	---	---	---	---
CA9	768	broad.mit.edu	37	9	35676348	35676348	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr9:35676348C>T	ENST00000378357.4	+	5	906	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	268	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGCCTTGGGGCGCCCGGGAGG	0.647																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(802-804)Cgc>Tgc		carbonic anhydrase IX							118.0	123.0	121.0					9																	35676348		2203	4300	6503	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35676348C>T	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.802C>T	9.37:g.35676348C>T	ENSP00000367608:p.Arg268Cys					CA9_ENST00000493245.1_Intron	p.R268C	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	906	+	all_epithelial(49;0.217)		268			Catalytic.		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.802C>T	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.962008	0.53400	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.53857	0.6	4.85	4.85	0.62838	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.199693	0.33457	N	0.004885	T	0.67970	0.2950	M	0.62723	1.935	0.48236	D	0.999613	D;D	0.89917	1.0;1.0	D;D	0.70016	0.952;0.967	T	0.70447	-0.4869	10	0.87932	D	0	.	13.6467	0.62286	0.0:1.0:0.0:0.0	.	268;268	F5H404;Q16790	.;CAH9_HUMAN	C	268	ENSP00000367608:R268C	ENSP00000367608:R268C	R	+	1	0	CA9	35666348	0.121000	0.22262	0.999000	0.59377	0.026000	0.11368	1.123000	0.31308	2.676000	0.91093	0.655000	0.94253	CGC		0.647	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		5	151	5	151	---	---	---	---
IFIT2	3433	broad.mit.edu	37	10	91066938	91066938	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr10:91066938G>A	ENST00000371826.3	+	2	1394	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	409					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGGGAGAAAGAAAAGATGAA	0.408																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(1225-1227)Gaa>Aaa		interferon-induced protein with tetratricopeptide repeats 2							110.0	101.0	104.0					10																	91066938		1830	4095	5925	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066938G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1225G>A	10.37:g.91066938G>A	ENSP00000360891:p.Glu409Lys					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.E409K	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	1394	+		Colorectal(252;0.0161)	409					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.1225G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622142	0.28889	.	.	ENSG00000119922	ENST00000371826	T	0.14144	2.53	4.58	3.66	0.41972	.	0.806535	0.10916	N	0.619985	T	0.12689	0.0308	L	0.45051	1.395	0.09310	N	1	B	0.27498	0.18	B	0.20577	0.03	T	0.16719	-1.0393	10	0.28530	T	0.3	3.0E-4	11.3624	0.49651	0.1581:0.0:0.8419:0.0	.	409	P09913	IFIT2_HUMAN	K	409	ENSP00000360891:E409K	ENSP00000360891:E409K	E	+	1	0	IFIT2	91056918	0.000000	0.05858	0.554000	0.28268	0.080000	0.17528	0.806000	0.27126	1.498000	0.48600	0.655000	0.94253	GAA		0.408	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		30	60	30	60	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	20869195	20869195	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:20869195G>A	ENST00000357134.5	+	4	554	c.402G>A	c.(400-402)aaG>aaA	p.K134K	NELL1_ENST00000298925.5_Silent_p.K162K|NELL1_ENST00000532434.1_Silent_p.K134K|NELL1_ENST00000325319.5_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	134	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACAATGGGAAGCCAAGGACAG	0.463																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(484-486)aaG>aaA		NEL-like 1 (chicken)							243.0	170.0	195.0					11																	20869195		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20869195G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.402G>A	11.37:g.20869195G>A						NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Silent_p.K134K|NELL1_ENST00000532434.1_Silent_p.K134K	p.K162K			Q92832	NELL1_HUMAN			5	639	+			134			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.486G>A	CCDS7855.1																																																																																				0.463	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		13	24	13	24	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65310638	65310638	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:65310638T>G	ENST00000301873.5	-	18	2802	c.2534A>C	c.(2533-2535)aAt>aCt	p.N845T	LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000529189.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	845	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTAGGAGCCATTGGTATTGAT	0.577																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2533-2535)aAt>aCt		latent transforming growth factor beta binding protein 3							127.0	111.0	116.0					11																	65310638		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65310638T>G	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2534A>C	11.37:g.65310638T>G	ENSP00000301873:p.Asn845Thr					LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000529189.1_5'UTR	p.N845T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			18	2802	-			845			Cys-rich.|EGF-like 8; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.2534A>C	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.65|11.65	1.701075|1.701075	0.30142|0.30142	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.91894|.	-2.93;-2.93;-2.93;-2.93;-2.93|.	4.23|4.23	4.23|4.23	0.50019|0.50019	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.261494|.	0.39407|.	N|.	0.001375|.	T|T	0.30696|0.30696	0.0773|0.0773	N|N	0.25286|0.25286	0.73|0.73	0.27152|0.27152	N|N	0.961385|0.961385	P;P;P;P;P;P|.	0.52170|.	0.698;0.951;0.488;0.454;0.622;0.536|.	B;P;B;B;B;B|.	0.50109|.	0.2;0.631;0.101;0.104;0.275;0.288|.	T|T	0.17501|0.17501	-1.0367|-1.0367	10|5	0.14656|.	T|.	0.56|.	.|.	7.8791|7.8791	0.29612|0.29612	0.0:0.0:0.2102:0.7898|0.0:0.0:0.2102:0.7898	.|.	756;471;728;845;845;275|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	T|H	845;845;275;471;756|495	ENSP00000326647:N845T;ENSP00000301873:N845T;ENSP00000435530:N275T;ENSP00000441912:N471T;ENSP00000435276:N756T|.	ENSP00000301873:N845T|.	N|Q	-|-	2|3	0|2	LTBP3|LTBP3	65067214|65067214	0.469000|0.469000	0.25846|0.25846	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.498000|0.498000	0.22530|0.22530	1.543000|1.543000	0.49345|0.49345	0.363000|0.363000	0.22086|0.22086	AAT|CAA		0.577	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	74	5	74	---	---	---	---
PDGFD	80310	broad.mit.edu	37	11	103870820	103870820	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:103870820G>T	ENST00000393158.2	-	2	467	c.288C>A	c.(286-288)gaC>gaA	p.D96E	PDGFD_ENST00000302251.5_Missense_Mutation_p.D90E			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	96	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAAACTGATTGTCAAACACTA	0.418																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(268-270)gaC>gaA		platelet derived growth factor D							123.0	123.0	123.0					11																	103870820		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870820G>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.288C>A	11.37:g.103870820G>T	ENSP00000376865:p.Asp96Glu					PDGFD_ENST00000393158.2_Missense_Mutation_p.D96E	p.D90E	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	721	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	96			CUB.		A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.270C>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504243	0.26949	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.16073	2.37;2.37;2.37	5.55	3.65	0.41850	CUB (5);	0.095784	0.64402	D	0.000002	T	0.28599	0.0708	L	0.41236	1.265	0.48040	D	0.999577	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.01316	-1.1387	10	0.40728	T	0.16	-28.3284	9.4403	0.38664	0.2504:0.0:0.7496:0.0	.	96;90	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	E	96;90;119	ENSP00000376865:D96E;ENSP00000302193:D90E;ENSP00000432909:D119E	ENSP00000302193:D90E	D	-	3	2	PDGFD	103376030	0.994000	0.37717	1.000000	0.80357	0.042000	0.13812	1.365000	0.34182	1.484000	0.48361	0.561000	0.74099	GAC		0.418	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		34	55	34	55	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7653874	7653874	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:7653874G>A	ENST00000359156.4	-	3	520	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CD163_ENST00000541972.1_Silent_p.S94S|CD163_ENST00000432237.2_Silent_p.S106S|CD163_ENST00000396620.3_Silent_p.S106S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	106	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AACCTGCACTGGAATTAGCCC	0.483																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(316-318)tcC>tcT		CD163 molecule							131.0	128.0	129.0					12																	7653874		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7653874G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.318C>T	12.37:g.7653874G>A						CD163_ENST00000432237.2_Silent_p.S106S|CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S	p.S106S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			3	520	-			106			SRCR 1.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.318C>T	CCDS8578.1																																																																																				0.483	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		50	56	50	56	---	---	---	---
KRT86	3892	broad.mit.edu	37	12	52700020	52700020	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:52700020C>T	ENST00000423955.2	+	9	1381	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	KRT86_ENST00000293525.5_Silent_p.I401I|KRT86_ENST00000544024.1_Silent_p.I401I|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	401	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTGGACATCGAGATCGCCA	0.627											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(1201-1203)atC>atT		keratin 86							72.0	73.0	73.0					12																	52700020		2203	4296	6499	SO:0001819	synonymous_variant	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52700020C>T	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1203C>T	12.37:g.52700020C>T			OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	KRT86_ENST00000423955.2_Silent_p.I401I|KRT86_ENST00000544024.1_Silent_p.I401I	p.I401I	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1255	+			401			Coil 2.|Rod.		P78387	Silent	SNP	ENST00000423955.2	37	c.1203C>T	CCDS41785.1																																																																																				0.627	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		40	60	40	60	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65461530	65461530	+	Silent	SNP	A	A	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:65461530A>G	ENST00000286574.4	-	5	953	c.579T>C	c.(577-579)aaT>aaC	p.N193N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	193	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGCGTCTTTCATTACAAAAGC	0.493			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(577-579)aaT>aaC		WNT inhibitory factor 1							95.0	85.0	88.0					12																	65461530		2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461530A>G	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.579T>C	12.37:g.65461530A>G							p.N193N	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	953	-			193			EGF-like 1.		Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.579T>C	CCDS8971.1																																																																																				0.493	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			17	30	17	30	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57731273	57731273	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:57731273A>C	ENST00000281282.5	+	2	1154	c.1076A>C	c.(1075-1077)aAa>aCa	p.K359T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	359	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTAATTGAAAAATTTGATCAA	0.433																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(1075-1077)aAa>aCa		cingulin-like 1							44.0	47.0	46.0					15																	57731273		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731273A>C	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1076A>C	15.37:g.57731273A>C	ENSP00000281282:p.Lys359Thr						p.K359T	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1154	+			359			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1076A>C	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766126	0.69878	.	.	ENSG00000128849	ENST00000281282	T	0.57907	0.37	5.79	4.68	0.58851	.	0.113355	0.39475	N	0.001359	T	0.69637	0.3133	M	0.71036	2.16	0.44485	D	0.997422	D	0.89917	1.0	D	0.87578	0.998	T	0.71974	-0.4430	10	0.87932	D	0	-32.122	11.4457	0.50123	0.9303:0.0:0.0697:0.0	.	359	Q0VF96	CGNL1_HUMAN	T	359	ENSP00000281282:K359T	ENSP00000281282:K359T	K	+	2	0	CGNL1	55518565	1.000000	0.71417	0.227000	0.23927	0.959000	0.62525	5.988000	0.70579	1.028000	0.39785	0.533000	0.62120	AAA		0.433	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		22	34	22	34	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65621731	65621731	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:65621731G>A	ENST00000327987.4	-	13	2453	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	734					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACTCACTGTGGGTCTGGGGT	0.642																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2200-2202)ccC>ccT		immunoglobulin superfamily, DCC subclass, member 3							70.0	83.0	79.0					15																	65621731		2194	4268	6462	SO:0001819	synonymous_variant	9543							g.chr15:65621731G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2202C>T	15.37:g.65621731G>A							p.P734P	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			13	2453	-			734					O95215	Silent	SNP	ENST00000327987.4	37	c.2202C>T	CCDS10205.1																																																																																				0.642	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		6	112	6	112	---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6513363	6513363	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:6513363C>T	ENST00000361413.3	-	9	2021	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	555						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATCCATGGTGCCTTGCGGTCT	0.483																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1663-1665)Gca>Aca		KIAA0753							172.0	173.0	172.0					17																	6513363		1932	4125	6057	SO:0001583	missense	9851					centrosome		g.chr17:6513363C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1663G>A	17.37:g.6513363C>T	ENSP00000355250:p.Ala555Thr					KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T	p.A555T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	9	2021	-			555					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1663G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368625	0.42003	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.07327	3.2;3.2	5.14	3.09	0.35607	.	0.258040	0.39687	N	0.001298	T	0.12050	0.0293	M	0.61703	1.905	0.09310	N	1	P	0.48162	0.906	P	0.49192	0.602	T	0.09818	-1.0657	10	0.23891	T	0.37	-9.2309	6.5376	0.22363	0.0:0.7177:0.1853:0.0971	.	555	Q2KHM9	K0753_HUMAN	T	555;256;11	ENSP00000355250:A555T;ENSP00000444634:A256T	ENSP00000355250:A555T	A	-	1	0	KIAA0753	6454087	0.940000	0.31905	0.973000	0.42090	0.445000	0.32107	1.663000	0.37429	1.284000	0.44531	0.650000	0.86243	GCA		0.483	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		11	108	11	108	---	---	---	---
SPECC1	92521	broad.mit.edu	37	17	20224905	20224905	+	IGR	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:20224905C>T	ENST00000395530.2	+	0	8133				CCDC144CP_ENST00000340196.4_RNA|U6_ENST00000517027.1_RNA|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTCGGGCGACGTCCCTGGGG	0.652																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	348254							g.chr17:20224905C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224905C>T						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1																																																																																				0.652	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		6	209	6	209	---	---	---	---
RAD51D	5892	broad.mit.edu	37	17	33430506	33430506	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:33430506C>T	ENST00000345365.6	-	7	889	c.634G>A	c.(634-636)Gtt>Att	p.V212I	RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	212					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGTGGGGAAACCACCGCAGTG	0.582								Direct reversal of damage																														ENST00000345365.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(634-636)Gtt>Att	Direct reversal of damage	RAD51 paralog D							108.0	91.0	96.0					17																	33430506		2203	4300	6503	SO:0001583	missense	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33430506C>T	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.634G>A	17.37:g.33430506C>T	ENSP00000338790:p.Val212Ile					RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I	p.V212I	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN			7	889	-			212					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	c.634G>A	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.736156	0.30774	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766;ENST00000418935	T;T	0.66099	1.11;-0.19	5.05	4.08	0.47627	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.247806	0.41396	N	0.000895	T	0.49150	0.1540	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.21688	0.059;0.049;0.0;0.002	B;B;B;B	0.24974	0.057;0.013;0.005;0.004	T	0.37911	-0.9685	10	0.20519	T	0.43	-19.3575	6.8472	0.23994	0.0:0.7292:0.1777:0.0931	.	232;100;212;212	B4DJU7;O75771-3;O75771;F8W8E6	.;.;RA51D_HUMAN;.	I	212;232;212;167;100;212	ENSP00000338790:V212I;ENSP00000353417:V167I	ENSP00000338408:V212I	V	-	1	0	RAD51D	30454619	0.976000	0.34144	0.992000	0.48379	0.834000	0.47266	0.875000	0.28079	1.366000	0.46076	0.591000	0.81541	GTT		0.582	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		13	22	13	22	---	---	---	---
ZNF652	22834	broad.mit.edu	37	17	47394509	47394509	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:47394509C>G	ENST00000362063.2	-	2	897	c.579G>C	c.(577-579)agG>agC	p.R193S	ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGCAGCTCTCCTGGTTCTCC	0.493																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(577-579)agG>agC		zinc finger protein 652							85.0	88.0	87.0					17																	47394509		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394509C>G	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.579G>C	17.37:g.47394509C>G	ENSP00000354686:p.Arg193Ser					ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S	p.R193S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	897	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		193					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.579G>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559283	0.45590	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08807	3.05;3.05	5.22	5.22	0.72569	.	0.146243	0.64402	D	0.000008	T	0.07007	0.0178	L	0.29908	0.895	0.45580	D	0.998521	B	0.33694	0.421	B	0.25140	0.058	T	0.42413	-0.9453	10	0.15952	T	0.53	-14.0516	18.5632	0.91108	0.0:1.0:0.0:0.0	.	193	Q9Y2D9	ZN652_HUMAN	S	193	ENSP00000354686:R193S;ENSP00000416305:R193S	ENSP00000354686:R193S	R	-	3	2	ZNF652	44749508	0.581000	0.26741	0.996000	0.52242	0.971000	0.66376	0.149000	0.16243	2.715000	0.92844	0.655000	0.94253	AGG		0.493	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		4	85	4	85	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046680	9046680	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:9046680G>A	ENST00000397910.4	-	5	35154	c.34951C>T	c.(34951-34953)Cct>Tct	p.P11651S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11653	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGAAGGAGTCAAAGTT	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34951-34953)Cct>Tct		mucin 16, cell surface associated							154.0	151.0	152.0					19																	9046680		2085	4217	6302	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046680G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34951C>T	19.37:g.9046680G>A	ENSP00000381008:p.Pro11651Ser						p.P11651S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35154	-			11653			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34951C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.031	-0.199657	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02015	4.5	3.0	-5.99	0.02213	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	.	.	.	B	0.22080	0.064	B	0.25506	0.061	T	0.48328	-0.9045	8	0.87932	D	0	.	2.9455	0.05845	0.1047:0.1367:0.4188:0.3398	.	11651	B5ME49	.	S	11651	ENSP00000381008:P11651S	ENSP00000381008:P11651S	P	-	1	0	MUC16	8907680	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-3.605000	0.00417	-2.538000	0.00487	-0.743000	0.03520	CCT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	116	9	116	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935474	30935474	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:30935474C>T	ENST00000355537.3	+	2	1152	c.1005C>T	c.(1003-1005)aaC>aaT	p.N335N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	335					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGCCCCAACGGCGGTGGCG	0.657																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1003-1005)aaC>aaT		zinc finger protein 536							84.0	96.0	92.0					19																	30935474		2203	4298	6501	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935474C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1005C>T	19.37:g.30935474C>T							p.N335N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1152	+	Esophageal squamous(110;0.0834)		335					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1005C>T	CCDS32984.1																																																																																				0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	137	6	137	---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56206217	56206217	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:56206217A>G	ENST00000270460.6	+	10	1701	c.1390A>G	c.(1390-1392)Acg>Gcg	p.T464A	EPN1_ENST00000085079.7_Missense_Mutation_p.T438A|EPN1_ENST00000411543.2_Missense_Mutation_p.T550A|AC010525.6_ENST00000587937.1_lincRNA|AC010525.7_ENST00000589698.1_lincRNA|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	464	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACCAACTCCCACGCCCCCCAC	0.716																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1648-1650)Acg>Gcg		epsin 1							17.0	28.0	25.0					19																	56206217		2053	4179	6232	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206217A>G	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1390A>G	19.37:g.56206217A>G	ENSP00000270460:p.Thr464Ala					EPN1_ENST00000270460.6_Missense_Mutation_p.T464A|EPN1_ENST00000085079.7_Missense_Mutation_p.T438A	p.T550A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	10	2195	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	464			3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1648A>G	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	A	3.436	-0.115166	0.06881	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15139	2.49;2.46;2.45	4.57	3.54	0.40534	.	0.240857	0.33591	N	0.004744	T	0.07052	0.0179	N	0.05124	-0.11	0.51012	D	0.999903	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.13407	0.0;0.009;0.0;0.0	T	0.20472	-1.0274	10	0.08599	T	0.76	-7.8821	9.3784	0.38297	0.8054:0.1946:0.0:0.0	.	424;550;464;438	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	A	464;438;424;550	ENSP00000270460:T464A;ENSP00000085079:T438A;ENSP00000406209:T550A	ENSP00000085079:T438A	T	+	1	0	EPN1	60898029	0.318000	0.24598	0.531000	0.27976	0.242000	0.25591	1.122000	0.31295	0.889000	0.36185	0.459000	0.35465	ACG		0.716	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		10	11	10	11	---	---	---	---
VAPB	9217	broad.mit.edu	37	20	56993284	56993284	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr20:56993284G>A	ENST00000475243.1	+	2	414	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V26I	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	26	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CACCGATGTTGTCACCACCAA	0.473																																						ENST00000475243.1																			0				kidney(2)|lung(3)|prostate(1)	6						c.(76-78)Gtc>Atc		VAMP (vesicle-associated membrane protein)-associated protein B and C							158.0	141.0	146.0					20																	56993284		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:56993284G>A	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.76G>A	20.37:g.56993284G>A	ENSP00000417175:p.Val26Ile					VAPB_ENST00000395802.3_Missense_Mutation_p.V26I|VAPB_ENST00000265619.2_3'UTR	p.V26I	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		2	414	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		26			MSP.		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.76G>A	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009837	0.75046	.	.	ENSG00000124164	ENST00000475243;ENST00000395802	T;T	0.62941	-0.01;-0.01	6.16	6.16	0.99307	PapD-like (2);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	L	0.52823	1.66	0.80722	D	1	D;B	0.67145	0.996;0.044	D;B	0.77557	0.99;0.031	T	0.75013	-0.3467	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	26;26	O95292-2;O95292	.;VAPB_HUMAN	I	26	ENSP00000417175:V26I;ENSP00000379147:V26I	ENSP00000379147:V26I	V	+	1	0	VAPB	56426690	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GTC		0.473	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			4	116	4	116	---	---	---	---
FMR1NB	158521	broad.mit.edu	37	X	147084823	147084824	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chrX:147084823_147084824insT	ENST00000370467.3	+	2	454_455	c.380_381insT	c.(379-384)aattttfs	p.NF127fs		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTTC	0.371																																						ENST00000370467.3																			1	Insertion - Frameshift(1)	p.F130fs*17(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(379-384)aattttfs		fragile X mental retardation 1 neighbor																																				SO:0001589	frameshift_variant	158521					integral to membrane		g.chrX:147084823_147084824insT		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.386dupT	X.37:g.147084829_147084829dupT	ENSP00000359498:p.Asn127fs						p.NF127fs	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			2	454_455	+	Acute lymphoblastic leukemia(192;6.56e-05)		127			P-type.		D3DWT3	Frame_Shift_Ins	INS	ENST00000370467.3	37	c.380_381insT	CCDS14683.1																																																																																				0.371	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		8	53	8	53	---	---	---	---
