#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	28	0	0	0	1	0	3	28				
ALDH6A1	4329	broad.mit.edu	37	14	74535667	74535667	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr14:74535667C>A	ENST00000553458.1	-	7	846	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.D237Y|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'Flank|ALDH6A1_ENST00000555126.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	250					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TCCGGATGATCGCAAATAAAA	0.418																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(748-750)Gat>Tat		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						63.0	60.0	61.0					14																	74535667		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74535667C>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.748G>T	14.37:g.74535667C>A	ENSP00000450436:p.Asp250Tyr					CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.D237Y|ALDH6A1_ENST00000555126.1_5'UTR|AC005484.5_ENST00000492026.1_RNA	p.D250Y	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	7	846	-			250					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.748G>T	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200179	0.79015	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.91180	-2.8;-2.8	5.98	5.1	0.69264	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	M	0.92122	3.275	0.80722	D	1	D;D	0.67145	0.996;0.991	D;D	0.70016	0.967;0.967	D	0.97112	0.9805	10	0.87932	D	0	.	15.2548	0.73576	0.0:0.9331:0.0:0.0669	.	237;250	B4DFS8;Q02252	.;MMSA_HUMAN	Y	250;237	ENSP00000450436:D250Y;ENSP00000342564:D237Y	ENSP00000342564:D250Y	D	-	1	0	ALDH6A1	73605420	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.812000	0.86109	1.541000	0.49316	-0.145000	0.13849	GAT		0.418	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			5	27	1	0	0.014758	1	0.014758	5	27				
GHR	2690	broad.mit.edu	37	5	42699991	42699991	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:42699991G>T	ENST00000230882.4	+	6	695	c.505G>T	c.(505-507)Gca>Tca	p.A169S	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.A147S	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	169	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGGATTCATGCAGATATCCA	0.428																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(505-507)Gca>Tca		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						137.0	117.0	124.0					5																	42699991		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42699991G>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.505G>T	5.37:g.42699991G>T	ENSP00000230882:p.Ala169Ser					GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.A147S	p.A169S	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			6	695	+		Myeloproliferative disorder(839;0.00878)	169			Fibronectin type-III.		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.505G>T	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952873	0.73787	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.94232	-3.38;-3.38	5.91	5.91	0.95273	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.360599	0.30347	N	0.009823	D	0.91489	0.7313	L	0.48642	1.525	0.80722	D	1	B	0.31318	0.319	B	0.38616	0.277	D	0.88052	0.2788	10	0.23302	T	0.38	-4.8065	14.4562	0.67418	0.0699:0.0:0.9301:0.0	.	169	P10912	GHR_HUMAN	S	169;147;169	ENSP00000230882:A169S;ENSP00000350335:A147S	ENSP00000230882:A169S	A	+	1	0	GHR	42735748	1.000000	0.71417	0.493000	0.27502	0.984000	0.73092	5.629000	0.67798	2.791000	0.96007	0.655000	0.94253	GCA		0.428	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		8	63	1	0	0.000274275	1	0.000287989	8	63				
SPG11	80208	broad.mit.edu	37	15	44858098	44858098	+	Missense_Mutation	SNP	C	C	T	rs373233936		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr15:44858098C>T	ENST00000261866.7	-	38	6969	c.6953G>A	c.(6952-6954)cGc>cAc	p.R2318H	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.R2205H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2318					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGCTTGTGGCGGCCCAAGTT	0.527																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6952-6954)cGc>cAc		spastic paraplegia 11 (autosomal recessive)							54.0	39.0	44.0					15																	44858098		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44858098C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6953G>A	15.37:g.44858098C>T	ENSP00000261866:p.Arg2318His					SPG11_ENST00000535302.2_Missense_Mutation_p.R2205H|SPG11_ENST00000427534.2_Intron	p.R2318H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	38	6969	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2318					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.6953G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	6.893	0.534177	0.13188	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	T;T	0.78364	-1.17;-0.88	5.86	1.32	0.21799	.	0.465487	0.22272	N	0.062249	T	0.62720	0.2451	L	0.39566	1.225	0.09310	N	0.999995	B;B;B	0.29627	0.017;0.252;0.252	B;B;B	0.23716	0.016;0.048;0.048	T	0.45145	-0.9281	10	0.19147	T	0.46	.	8.498	0.33141	0.0:0.6559:0.0:0.3441	.	2205;2318;2318	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	H	2318;2205	ENSP00000261866:R2318H;ENSP00000445278:R2205H	ENSP00000261866:R2318H	R	-	2	0	SPG11	42645390	0.995000	0.38212	0.864000	0.33941	0.096000	0.18686	2.348000	0.44045	0.050000	0.15949	-0.142000	0.14014	CGC		0.527	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			3	34	0	0	0	1	0	3	34				
POLR3A	11128	broad.mit.edu	37	10	79777419	79777419	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr10:79777419T>C	ENST00000372371.3	-	10	1482	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	449					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTCTCTACGATGTCACCATAC	0.448																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1345-1347)Atc>Gtc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							183.0	161.0	168.0					10																	79777419		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79777419T>C	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1345A>G	10.37:g.79777419T>C	ENSP00000361446:p.Ile449Val					POLR3A_ENST00000484760.1_5'UTR	p.I449V	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		10	1482	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		449					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1345A>G	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	6.170	0.399524	0.11696	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68025	-0.3	5.9	2.25	0.28309	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.199336	0.53938	N	0.000060	T	0.43500	0.1250	N	0.12422	0.21	0.39559	D	0.9691	B	0.09022	0.002	B	0.15870	0.014	T	0.13629	-1.0502	9	.	.	.	-12.8084	9.91	0.41399	0.0:0.1914:0.0:0.8086	.	449	O14802	RPC1_HUMAN	V	449	ENSP00000361446:I449V	.	I	-	1	0	POLR3A	79447425	1.000000	0.71417	0.852000	0.33557	0.971000	0.66376	1.862000	0.39448	0.132000	0.18615	0.528000	0.53228	ATC		0.448	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		14	82	0	0	0	1	0	14	82				
EPN2	22905	broad.mit.edu	37	17	19213263	19213263	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:19213263C>G	ENST00000314728.5	+	5	1316	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V	EPN2_ENST00000395620.2_Missense_Mutation_p.L221V|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000347697.2_Missense_Mutation_p.L221V|EPN2_ENST00000395626.1_Missense_Mutation_p.L278V|EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000571254.1_Missense_Mutation_p.L221V	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	278					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGAAGAGGAGCTTCAGCTGCA	0.597																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(832-834)Ctt>Gtt		epsin 2							60.0	58.0	58.0					17																	19213263		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19213263C>G	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.832C>G	17.37:g.19213263C>G	ENSP00000320543:p.Leu278Val					EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395626.1_Missense_Mutation_p.L278V|EPN2_ENST00000571254.1_Missense_Mutation_p.L221V|EPN2_ENST00000395620.2_Missense_Mutation_p.L221V|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000347697.2_Missense_Mutation_p.L221V	p.L278V	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			5	1316	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		278					A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.832C>G	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094723	0.76870	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.45668	2.19;1.92;1.2;2.19;0.89	5.52	4.56	0.56223	Ubiquitin interacting motif (2);	0.331941	0.32430	N	0.006114	T	0.62708	0.2450	M	0.82823	2.61	0.54753	D	0.99998	D;D;D;D;D;D	0.76494	0.998;0.998;0.999;0.998;0.998;0.999	D;D;D;D;D;D	0.87578	0.996;0.996;0.998;0.99;0.996;0.998	T	0.62613	-0.6817	10	0.23891	T	0.37	-15.02	10.3009	0.43653	0.0:0.8502:0.0:0.1498	.	221;221;278;221;221;278	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	V	221;278;221;221;278	ENSP00000261495:L221V;ENSP00000320543:L278V;ENSP00000378990:L221V;ENSP00000378982:L221V;ENSP00000378988:L278V	ENSP00000320543:L278V	L	+	1	0	EPN2	19153856	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.950000	0.56676	1.335000	0.45486	0.655000	0.94253	CTT		0.597	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		9	104	0	0	0	1	0	9	104				
BRCA2	675	broad.mit.edu	37	13	32907165	32907165	+	Missense_Mutation	SNP	A	A	G	rs80358439		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr13:32907165A>G	ENST00000380152.3	+	10	1783	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	BRCA2_ENST00000544455.1_Missense_Mutation_p.N517S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	517					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGACTTTCAATGCAAGTTTT	0.373			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1549-1551)aAt>aGt	Homologous recombination	breast cancer 2, early onset							72.0	80.0	77.0					13																	32907165		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907165A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1550A>G	13.37:g.32907165A>G	ENSP00000369497:p.Asn517Ser	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.N517S	p.N517S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1777	+		Lung SC(185;0.0262)	517					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.1550A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.048524	0.00394	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00653	5.96;5.96	5.35	-2.85	0.05734	.	1.375650	0.04183	N	0.326941	T	0.00384	0.0012	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46091	-0.9216	10	0.06625	T	0.88	.	12.6549	0.56782	0.5378:0.0:0.4622:0.0	.	517;517	P51587;A1YBP1	BRCA2_HUMAN;.	S	517;517;515	ENSP00000369497:N517S;ENSP00000439902:N517S	ENSP00000369497:N517S	N	+	2	0	BRCA2	31805165	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.147000	0.10234	-0.610000	0.05716	-0.783000	0.03347	AAT		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		10	119	0	0	0	1	0	10	119				
FAM86HP	729375	broad.mit.edu	37	3	129821661	129821661	+	RNA	SNP	T	T	C	rs199979104	byFrequency	TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr3:129821661T>C	ENST00000500074.2	-	0	484									family with sequence similarity 86, member H, pseudogene																		GTAAAGGCCATGTAGACCTCA	0.667													t|||	16	0.00319489	0.0023	0.0	5008	,	,		15464	0.0089		0.003	False		,,,				2504	0.001					ENST00000500074.2																			0																																																			0							g.chr3:129821661T>C			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129821661T>C														0	484	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.667	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			5	177	0	0	0	1	0	5	177				
HMCN1	83872	broad.mit.edu	37	1	186084409	186084409	+	Silent	SNP	G	G	A			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr1:186084409G>A	ENST00000271588.4	+	75	11653	c.11424G>A	c.(11422-11424)ccG>ccA	p.P3808P	HMCN1_ENST00000367492.2_Silent_p.P3808P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3808	Ig-like C2-type 37.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTATTGCTCCGGGTCCTACCA	0.398																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11422-11424)ccG>ccA		hemicentin 1							174.0	161.0	166.0					1																	186084409		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186084409G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11424G>A	1.37:g.186084409G>A						HMCN1_ENST00000367492.2_Silent_p.P3808P	p.P3808P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			75	11653	+			3808			Ig-like C2-type 37.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.11424G>A	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	94	0	0	0	1	0	11	94				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	161	0	0	0	1	0	4	161				
CEP72	55722	broad.mit.edu	37	5	620298	620298	+	Missense_Mutation	SNP	C	C	T	rs148249239		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:620298C>T	ENST00000264935.5	+	3	415	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	CEP72_ENST00000444221.1_Missense_Mutation_p.R109W	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	109					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGTGGACTTCCGGCTGAACCC	0.572																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(325-327)Cgg>Tgg		centrosomal protein 72kDa		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	141.0	119.0	127.0		325	3.9	0.9	5	dbSNP_134	127	0,8600		0,0,4300	no	missense	CEP72	NM_018140.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	109/648	620298	1,13005	2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:620298C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.325C>T	5.37:g.620298C>T	ENSP00000264935:p.Arg109Trp					CEP72_ENST00000444221.1_Missense_Mutation_p.R109W	p.R109W	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		3	415	+			109					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.325C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750130	0.49257	2.27E-4	0.0	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.25085	1.82;1.82	4.81	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.80183	2.485	0.41209	D	0.986429	D	0.89917	1.0	D	0.91635	0.999	T	0.54510	-0.8283	10	0.72032	D	0.01	-34.1059	10.4488	0.44509	0.3522:0.6478:0.0:0.0	.	109	Q9P209	CEP72_HUMAN	W	109	ENSP00000264935:R109W;ENSP00000392052:R109W	ENSP00000264935:R109W	R	+	1	2	CEP72	673298	0.941000	0.31946	0.917000	0.36280	0.355000	0.29361	1.787000	0.38704	1.081000	0.41110	0.462000	0.41574	CGG		0.572	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		4	111	0	0	0	1	0	4	111				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			8	115	0	0	0	1	0	8	115				
TNFAIP3	7128	broad.mit.edu	37	6	138201287	138201287	+	Silent	SNP	C	C	T			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr6:138201287C>T	ENST00000237289.4	+	8	2052	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	Interaction with TNIP1. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.C662fs*36(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		26	Whole gene deletion(25)|Complex - frameshift(1)	p.0?(25)|p.C662fs*36(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1984-1986)tgC>tgT		tumor necrosis factor, alpha-induced protein 3							98.0	89.0	92.0					6																	138201287		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138201287C>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1986C>T	6.37:g.138201287C>T							p.C662C	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	8	2052	+	Breast(32;0.135)|Colorectal(23;0.24)		662			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.1986C>T	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130355	0.21041	.	.	ENSG00000118503	ENST00000544646	.	.	.	6.08	-6.69	0.01772	.	.	.	.	.	T	0.62344	0.2420	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75895	-0.3156	5	0.87932	D	0	-17.8663	16.8377	0.85961	0.0:0.595:0.0:0.405	.	.	.	.	W	662	.	ENSP00000442207:R662W	R	+	1	2	TNFAIP3	138242980	0.008000	0.16893	0.185000	0.23176	0.928000	0.56348	-1.071000	0.03437	-1.541000	0.01727	-0.302000	0.09304	CGG		0.502	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			4	75	0	0	0	1	0	4	75				
GALNT14	79623	broad.mit.edu	37	2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T	rs200913085		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:31178596C>T	ENST00000349752.5	-	6	1181	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000486564.1_5'Flank|GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	181	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(541-543)cGg>cAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							59.0	59.0	59.0					2																	31178596		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31178596C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.542G>A	2.37:g.31178596C>T	ENSP00000288988:p.Arg181Gln					GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q	p.R181Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			6	1181	-	Acute lymphoblastic leukemia(172;0.155)		181			Catalytic subdomain A.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.542G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	36	5.935953	0.97122	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.61	5.61	0.85477	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.996;0.998;1.0;0.998	D	0.85433	0.1150	10	0.87932	D	0	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	146;146;148;186;181;161	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	Q	181;186;161;148;146;148	ENSP00000288988:R181Q;ENSP00000314500:R186Q;ENSP00000385435:R161Q;ENSP00000348497:R148Q;ENSP00000415514:R146Q;ENSP00000406399:R148Q	ENSP00000314500:R186Q	R	-	2	0	GALNT14	31032100	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.428000	0.80296	2.656000	0.90262	0.561000	0.74099	CGG		0.602	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		10	89	0	0	0	1	0	10	89				
ZSCAN5B	342933	broad.mit.edu	37	19	56704284	56704284	+	Silent	SNP	A	A	G			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr19:56704284A>G	ENST00000586855.2	-	2	451	c.138T>C	c.(136-138)aaT>aaC	p.N46N	ZSCAN5B_ENST00000358992.3_Silent_p.N46N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	46	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N46N(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATCCTGAAATTCATGTGCC	0.577																																						ENST00000586855.2																			2	Substitution - coding silent(2)	p.N46N(2)	prostate(2)	breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(136-138)aaT>aaC		zinc finger and SCAN domain containing 5B							51.0	49.0	50.0					19																	56704284		2203	4300	6503	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704284A>G		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.138T>C	19.37:g.56704284A>G						ZSCAN5B_ENST00000358992.3_Silent_p.N46N	p.N46N			A6NJL1	ZSA5B_HUMAN			2	451	-			46			SCAN box.			Silent	SNP	ENST00000586855.2	37	c.138T>C	CCDS46203.1																																																																																				0.577	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		3	36	0	0	0	1	0	3	36				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			5	66	0	0	0	1	0	5	66				
MYBBP1A	10514	broad.mit.edu	37	17	4445773	4445773	+	Missense_Mutation	SNP	G	G	A	rs369018364		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:4445773G>A	ENST00000254718.4	-	22	3379	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1025W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1025					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGACGGGGCCGCACCGGGCCC	0.617																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3073-3075)Cgg>Tgg		MYB binding protein (P160) 1a		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	79.0	76.0		3073,3073	3.2	0.5	17		76	0,8600		0,0,4300	no	missense,missense	MYBBP1A	NM_001105538.1,NM_014520.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1025/1333,1025/1329	4445773	1,13005	2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4445773G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3073C>T	17.37:g.4445773G>A	ENSP00000254718:p.Arg1025Trp					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1025W	p.R1025W			Q9BQG0	MBB1A_HUMAN			22	3379	-			1025					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3073C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165834	0.38217	2.27E-4	0.0	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.68331	-0.32;-0.32	5.3	3.25	0.37280	Armadillo-type fold (1);	0.054052	0.64402	D	0.000001	T	0.77579	0.4151	M	0.67953	2.075	0.38604	D	0.950742	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77832	-0.2441	10	0.49607	T	0.09	-39.9853	10.7458	0.46179	0.0:0.0:0.6537:0.3463	.	1025;1025	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	W	1025	ENSP00000370968:R1025W;ENSP00000254718:R1025W	ENSP00000254718:R1025W	R	-	1	2	MYBBP1A	4392522	0.575000	0.26692	0.542000	0.28115	0.003000	0.03518	1.047000	0.30367	0.578000	0.29487	0.561000	0.74099	CGG		0.617	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		4	132	0	0	0	1	0	4	132				
LTBP3	4054	broad.mit.edu	37	11	65306608	65306608	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr11:65306608delT	ENST00000301873.5	-	28	4123	c.3855delA	c.(3853-3855)aaafs	p.K1285fs	LTBP3_ENST00000322147.4_Frame_Shift_Del_p.K1238fs|LTBP3_ENST00000530785.1_Frame_Shift_Del_p.K288fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.K715fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.K864fs|LTBP3_ENST00000529189.1_Frame_Shift_Del_p.K241fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1285	EGF-like 13; 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						CGAAGCCGGCTTTGCAGACGC	0.706																																						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.(3853-3855)aafs		latent transforming growth factor beta binding protein 3							3.0	3.0	3.0					11																	65306608		1816	3498	5314	SO:0001589	frameshift_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65306608delT	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.3855delA	11.37:g.65306608delT	ENSP00000301873:p.Lys1285fs					LTBP3_ENST00000529189.1_Frame_Shift_Del_p.K241fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.K1238fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.K715fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.K864fs|LTBP3_ENST00000530785.1_Frame_Shift_Del_p.K288fs	p.K1285fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			28	4123	-			1285			EGF-like 13; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Frame_Shift_Del	DEL	ENST00000301873.5	37	c.3855delA	CCDS44647.1																																																																																				0.706	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		2	4						2	4	---	---	---	---
FTCD	10841	broad.mit.edu	37	21	47572855	47572855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr21:47572855delA	ENST00000291670.5	-	3	376	c.333delT	c.(331-333)tttfs	p.F111fs	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Frame_Shift_Del_p.F111fs|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397743.1_Frame_Shift_Del_p.F111fs|FTCD_ENST00000355384.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000359679.2_Frame_Shift_Del_p.F111fs	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	111	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GCCTCTGGCCAAAGGCCTGGG	0.672																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(331-333)ttfs		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						12.0	13.0	13.0					21																	47572855		2165	4252	6417	SO:0001589	frameshift_variant	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47572855delA	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.333delT	21.37:g.47572855delA	ENSP00000291670:p.Phe111fs					FTCD_ENST00000355384.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397746.3_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397743.1_Frame_Shift_Del_p.F111fs|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Frame_Shift_Del_p.F111fs|FTCD_ENST00000359679.2_Frame_Shift_Del_p.F111fs	p.F111fs			O95954	FTCD_HUMAN		Colorectal(79;0.235)	3	376	-	Breast(49;0.214)		111			Formiminotransferase N-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Frame_Shift_Del	DEL	ENST00000291670.5	37	c.333delT	CCDS13731.1																																																																																				0.672	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		2	4						2	4	---	---	---	---
