#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AARS	16	genome.wustl.edu	37	16	70292941	70292941	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr16:70292941G>C	ENST00000261772.8	-	14	2077	c.1934C>G	c.(1933-1935)tCc>tGc	p.S645C	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CTGTTGGGTGGACATGGCTCC	0.557																																						dbGAP											0													165.0	154.0	158.0					16																	70292941		2198	4300	6498	-	-	-	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1934C>G	16.37:g.70292941G>C	ENSP00000261772:p.Ser645Cys			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.S645C	ENST00000261772.8	37	c.1934	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917920	0.52546	.	.	ENSG00000090861	ENST00000261772	T	0.67171	-0.25	5.7	5.7	0.88788	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.207947	0.51477	D	0.000085	T	0.81706	0.4879	M	0.88979	2.995	0.58432	D	0.999999	D;P	0.58620	0.983;0.946	P;P	0.54965	0.765;0.765	D	0.85285	0.1064	10	0.87932	D	0	-18.1937	17.3409	0.87296	0.0:0.0:1.0:0.0	.	653;645	E7ETK8;P49588	.;SYAC_HUMAN	C	645	ENSP00000261772:S645C	ENSP00000261772:S645C	S	-	2	0	AARS	68850442	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.822000	0.69265	2.688000	0.91661	0.655000	0.94253	TCC	AARS	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	ENSG00000090861		0.557	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	44	0.00	0	G	NM_001605		70292941	70292941	-1	no_errors	ENST00000261772	ensembl	human	known	69_37n	missense	57	10.94	7	SNP	1.000	C
B3GNT3	10331	genome.wustl.edu	37	19	17922586	17922586	+	Silent	SNP	G	G	A			TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr19:17922586G>A	ENST00000318683.6	+	3	921	c.774G>A	c.(772-774)gtG>gtA	p.V258V	B3GNT3_ENST00000595387.1_Silent_p.V258V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	258					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAGAGGTGGTGACTCAGAATG	0.612																																						dbGAP											0													75.0	72.0	73.0					19																	17922586		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.774G>A	19.37:g.17922586G>A			B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	pfam_Glyco_trans_31	p.V258	ENST00000318683.6	37	c.774	CCDS12364.1	19																																																																																			B3GNT3	-	pfam_Glyco_trans_31	ENSG00000179913		0.612	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT3	HGNC	protein_coding	OTTHUMT00000466877.1	34	0.00	0	G	NM_014256		17922586	17922586	+1	no_errors	ENST00000318683	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.730	A
CDH24	64403	genome.wustl.edu	37	14	23518908	23518908	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr14:23518908C>G	ENST00000267383.5	-	10	1731	c.1639G>C	c.(1639-1641)Ggc>Cgc	p.G547R	CDH24_ENST00000487137.2_Missense_Mutation_p.G509R|CDH24_ENST00000397359.3_Missense_Mutation_p.G547R|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.G509R			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTACTGTTGCCAACTTCATCT	0.567																																						dbGAP											0													67.0	59.0	62.0					14																	23518908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1639G>C	14.37:g.23518908C>G	ENSP00000267383:p.Gly547Arg		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G547R	ENST00000267383.5	37	c.1639	CCDS9585.1	14	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412132	0.42817	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.7	4.7	0.59300	Cadherin (2);Cadherin-like (1);	0.136918	0.48286	D	0.000183	T	0.44307	0.1287	L	0.50333	1.59	0.47308	D	0.999388	D;D	0.89917	0.999;1.0	D;D	0.73708	0.967;0.981	T	0.13415	-1.0510	10	0.26408	T	0.33	.	10.2077	0.43122	0.0:0.907:0.0:0.093	.	509;547	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	R	547;509;509;547	ENSP00000380517:G547R;ENSP00000434821:G509R;ENSP00000452493:G509R;ENSP00000267383:G547R	ENSP00000267383:G547R	G	-	1	0	CDH24	22588748	0.000000	0.05858	0.958000	0.39756	0.917000	0.54804	0.203000	0.17315	2.448000	0.82819	0.555000	0.69702	GGC	CDH24	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000139880		0.567	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	23	0.00	0	C	NM_022478		23518908	23518908	-1	no_errors	ENST00000267383	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.984	G
CREBRF	153222	genome.wustl.edu	37	5	172537628	172537628	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr5:172537628G>C	ENST00000296953.2	+	6	1840	c.1521G>C	c.(1519-1521)aaG>aaC	p.K507N	CREBRF_ENST00000540014.1_Missense_Mutation_p.K509N	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	507					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AACTGAATAAGGTGATTAGTG	0.423																																						dbGAP											0													79.0	78.0	78.0					5																	172537628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1521G>C	5.37:g.172537628G>C	ENSP00000296953:p.Lys507Asn		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.K509N	ENST00000296953.2	37	c.1527	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726526	0.69074	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.23348	1.91;1.91	5.67	2.96	0.34315	.	0.044724	0.85682	D	0.000000	T	0.23572	0.0570	L	0.53249	1.67	0.80722	D	1	P	0.39250	0.665	B	0.37047	0.24	T	0.02098	-1.1214	10	0.59425	D	0.04	.	9.705	0.40209	0.276:0.0:0.724:0.0	.	507	Q8IUR6	CE041_HUMAN	N	507;509;507;507	ENSP00000296953:K507N;ENSP00000440075:K509N	ENSP00000296953:K507N	K	+	3	2	C5orf41	172470234	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.134000	0.31442	0.354000	0.24105	0.563000	0.77884	AAG	CREBRF	-	NULL	ENSG00000164463		0.423	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	190	0.00	0	G	NM_153607		172537628	172537628	+1	no_errors	ENST00000540014	ensembl	human	known	69_37n	missense	302	10.65	36	SNP	1.000	C
GOLGA6L2	283685	genome.wustl.edu	37	15	23685749	23685751	+	In_Frame_Del	DEL	CTC	CTC	-	rs147373023		TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr15:23685749_23685751delCTC	ENST00000567107.1	-	8	1923_1925	c.1871_1873delGAG	c.(1870-1875)ggagaa>gaa	p.G624del	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						ctcgcatcttctcctcctggtcc	0.586																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1871_1873delGAG	15.37:g.23685752_23685754delCTC	ENSP00000454407:p.Gly624del		A1L301	In_Frame_Del	DEL	NULL	p.G624in_frame_del	ENST00000567107.1	37	c.1873_1871		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.586	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	8	0.00	0	CTC	NM_182561		23685749	23685751	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	in_frame_del	6	33.33	3	DEL	0.050:0.050:0.058	-
GPR98	84059	genome.wustl.edu	37	5	89979505	89979505	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr5:89979505G>C	ENST00000405460.2	+	28	5863	c.5767G>C	c.(5767-5769)Gag>Cag	p.E1923Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1923	Calx-beta 13. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATCACATTTGAGATTGGGCA	0.473																																						dbGAP											0													96.0	95.0	95.0					5																	89979505		1943	4134	6077	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5767G>C	5.37:g.89979505G>C	ENSP00000384582:p.Glu1923Gln		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E1923Q	ENST00000405460.2	37	c.5767	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093894	0.36952	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27557	1.66	5.56	5.56	0.83823	Na-Ca exchanger/integrin-beta4 (1);	0.376534	0.32563	N	0.005937	T	0.27798	0.0684	L	0.40543	1.245	0.80722	D	1	P	0.45474	0.859	B	0.41988	0.372	T	0.01643	-1.1305	10	0.32370	T	0.25	.	13.769	0.63012	0.0735:0.0:0.9265:0.0	.	1923	Q8WXG9	GPR98_HUMAN	Q	1923	ENSP00000384582:E1923Q	ENSP00000296619:E1923Q	E	+	1	0	GPR98	90015261	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.615000	0.67702	2.609000	0.88269	0.585000	0.79938	GAG	GPR98	-	smart_Calx_beta	ENSG00000164199		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	53	0.00	0	G	NM_032119		89979505	89979505	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	1.000	C
MKRN3	7681	genome.wustl.edu	37	15	23811712	23811712	+	Silent	SNP	C	C	T			TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr15:23811712C>T	ENST00000314520.3	+	1	1259	c.783C>T	c.(781-783)ctC>ctT	p.L261L	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	261					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTATGTACCTCCATGGAGACA	0.542																																						dbGAP											0													107.0	110.0	109.0					15																	23811712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.783C>T	15.37:g.23811712C>T				Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.L261	ENST00000314520.3	37	c.783	CCDS10013.1	15																																																																																			MKRN3	-	smart_Znf_CCCH	ENSG00000179455		0.542	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	33	0.00	0	C	NM_005664		23811712	23811712	+1	no_errors	ENST00000314520	ensembl	human	known	69_37n	silent	40	11.11	5	SNP	0.999	T
POLR3E	55718	genome.wustl.edu	37	16	22337509	22337510	+	Frame_Shift_Ins	INS	-	-	C	rs377754724		TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr16:22337509_22337510insC	ENST00000299853.5	+	18	1943_1944	c.1776_1777insC	c.(1777-1779)cccfs	p.P593fs	POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.P593fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.P593fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.P557fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	593					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGGCCAGCCTGCCCCCCGGCCA	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1782dupC	16.37:g.22337515_22337515dupC	ENSP00000299853:p.Pro593fs		B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Ins	INS	pfam_RNA_pol_III_Rpc5	p.G594fs	ENST00000299853.5	37	c.1776_1777	CCDS10605.1	16																																																																																			POLR3E	-	NULL	ENSG00000058600		0.604	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	18	0.00	0	-	NM_018119		22337509	22337510	+1	no_errors	ENST00000299853	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	0.991:1.000	C
POTEB	100996331	genome.wustl.edu	37	15	22077651	22077651	+	Silent	SNP	A	A	G	rs201029243		TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr15:22077651A>G	ENST00000439682.1	-	3	630	c.579T>C	c.(577-579)gcT>gcC	p.A193A	POTEB_ENST00000553662.2_5'UTR	NM_001277304.1	NP_001264233.1	Q6S5H4	POTEB_HUMAN	POTE ankyrin domain family, member B	230										endometrium(2)|kidney(8)|lung(4)	14						TATTTCCATCAGCGCCATGTT	0.383																																						dbGAP											0													1.0	1.0	1.0					15																	22077651		221	346	567	-	-	-	SO:0001819	synonymous_variant	0			AY465170	CCDS59250.1	15q11.2	2014-01-10	2008-11-26	2008-11-26	ENSG00000233917	ENSG00000233917		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33734	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 5"""	608912	"""ANKRD26-like family B, member 1"""	A26B1			Standard	NM_001277304		Approved	POTE15, POTE-15, CT104.5	uc031qqz.1	Q6S5H4		ENST00000439682.1:c.579T>C	15.37:g.22077651A>G			Q6NXN7|Q6S5H7	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A193	ENST00000439682.1	37	c.579	CCDS59250.1	15																																																																																			POTEB	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000233917		0.383	POTEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEB	HGNC	protein_coding	OTTHUMT00000414911.2	9	0.00	0	A	NM_207355		22077651	22077651	-1	no_errors	ENST00000439682	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	0.570	G
PRG4	10216	genome.wustl.edu	37	1	186276520	186276520	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr1:186276520A>C	ENST00000445192.2	+	7	1714	c.1669A>C	c.(1669-1671)Acc>Ccc	p.T557P	PRG4_ENST00000367485.4_Missense_Mutation_p.T464P|PRG4_ENST00000367486.3_Missense_Mutation_p.T514P|PRG4_ENST00000367483.4_Missense_Mutation_p.T516P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	557	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.637																																						dbGAP											0													131.0	119.0	123.0					1																	186276520		2203	4299	6502	-	-	-	SO:0001583	missense	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1669A>C	1.37:g.186276520A>C	ENSP00000399679:p.Thr557Pro		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.T557P	ENST00000445192.2	37	c.1669	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	a	2.683	-0.274874	0.05679	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05025	3.54;3.63;3.51;3.64	3.65	-7.29	0.01451	.	.	.	.	.	T	0.01940	0.0061	N	0.03115	-0.41	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39313	-0.9620	8	.	.	.	.	3.7203	0.08453	0.5111:0.2553:0.0901:0.1434	.	423;464;557;516	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	514;423;516;464;557	ENSP00000356456:T514P;ENSP00000356453:T516P;ENSP00000356455:T464P;ENSP00000399679:T557P	.	T	+	1	0	PRG4	184543143	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.337000	0.00038	-3.257000	0.00203	-2.996000	0.00077	ACC	PRG4	-	NULL	ENSG00000116690		0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	30	0.00	0	A	NM_005807		186276520	186276520	+1	no_errors	ENST00000445192	ensembl	human	known	69_37n	missense	64	21.69	18	SNP	0.000	C
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-AO-A0JC-01A-11W-A071-09	TCGA-AO-A0JC-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	120f55df-5d1d-4073-a21a-632c892d3da9	a9132e75-b777-4399-969c-d1e8fab91117	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	29	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	29	25.64	10	SNP	0.994	A
