#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
MYBBP1A	10514	broad.mit.edu	37	17	4453557	4453557	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:4453557G>A	ENST00000254718.4	-	9	1421	c.1115C>T	c.(1114-1116)gCc>gTc	p.A372V	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A372V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	372	Interaction with MYB. {ECO:0000250}.				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						CACTAGCACGGCCAGCTGCCG	0.622																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1114-1116)gCc>gTc		MYB binding protein (P160) 1a							129.0	135.0	133.0					17																	4453557		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.chr17:4453557G>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.1115C>T	17.37:g.4453557G>A	ENSP00000254718:p.Ala372Val					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A372V	p.A372V			Q9BQG0	MBB1A_HUMAN			9	1421	-			372			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1115C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	1.581	-0.531543	0.04112	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.68181	-0.31;-0.31	4.89	4.89	0.63831	Armadillo-type fold (1);	0.357078	0.31976	N	0.006772	T	0.59662	0.2210	L	0.47716	1.5	0.28109	N	0.931077	P;B	0.35468	0.503;0.447	B;B	0.36244	0.22;0.14	T	0.54918	-0.8221	10	0.22109	T	0.4	-6.3061	14.906	0.70718	0.0:0.0:1.0:0.0	.	372;372	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	V	372	ENSP00000370968:A372V;ENSP00000254718:A372V	ENSP00000254718:A372V	A	-	2	0	MYBBP1A	4400306	0.995000	0.38212	0.011000	0.14972	0.022000	0.10575	2.762000	0.47597	2.559000	0.86315	0.655000	0.94253	GCC		0.622	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		4	220	0	0	0	1	0	4	220				
CLCN3	1182	broad.mit.edu	37	4	170618774	170618774	+	Silent	SNP	C	C	G			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr4:170618774C>G	ENST00000513761.1	+	9	2011	c.1452C>G	c.(1450-1452)gtC>gtG	p.V484V	CLCN3_ENST00000360642.3_Silent_p.V457V|CLCN3_ENST00000347613.4_Silent_p.V484V|CLCN3_ENST00000504131.2_Silent_p.V467V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	484					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GTAAAATTGTCGATGACATTC	0.403																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1450-1452)gtC>gtG		chloride channel, voltage-sensitive 3							123.0	117.0	119.0					4																	170618774		2203	4300	6503	SO:0001819	synonymous_variant	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170618774C>G	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1452C>G	4.37:g.170618774C>G						CLCN3_ENST00000504131.2_Silent_p.V467V|CLCN3_ENST00000347613.4_Silent_p.V484V|CLCN3_ENST00000360642.3_Silent_p.V457V	p.V484V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	9	2011	+		Prostate(90;0.00601)|Renal(120;0.0183)	484					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	c.1452C>G	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	5.955	0.360214	0.11296	.	.	ENSG00000109572	ENST00000515420	.	.	.	5.51	-6.66	0.01789	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45454	-0.9260	4	.	.	.	-12.9829	2.943	0.05836	0.1304:0.2381:0.4308:0.2007	.	.	.	.	W	139	.	.	S	+	2	0	CLCN3	170855349	0.052000	0.20516	0.987000	0.45799	0.766000	0.43426	-0.818000	0.04467	-0.551000	0.06175	-1.490000	0.00973	TCG		0.403	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			7	103	0	0	0	1	0	7	103				
RINL	126432	broad.mit.edu	37	19	39359959	39359959	+	Silent	SNP	G	G	C	rs369751216		TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr19:39359959G>C	ENST00000591812.1	-	11	1652	c.1566C>G	c.(1564-1566)tcC>tcG	p.S522S	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Silent_p.S408S|RINL_ENST00000598904.1_Silent_p.S408S|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	522					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S408S(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CGCGGGCCTCGGAGCTGAGCC	0.657																																						ENST00000340740.3																			1	Substitution - coding silent(1)	p.S408S(1)	lung(1)	endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(1222-1224)tcC>tcG		Ras and Rab interactor-like		G	,	0,4406		0,0,2203	64.0	72.0	69.0		1566,1224	-11.0	0.1	19		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RINL	NM_001195833.1,NM_198445.3	,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,	522/567,408/453	39359959	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126432						GTPase activator activity	g.chr19:39359959G>C	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1566C>G	19.37:g.39359959G>C						RINL_ENST00000591812.1_Silent_p.S522S|RINL_ENST00000598904.1_Silent_p.S408S	p.S408S	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			11	1611	-			408					B4DPG5	Silent	SNP	ENST00000591812.1	37	c.1224C>G	CCDS59386.1																																																																																				0.657	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		41	70	0	0	0	1	0	41	70				
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			6	Substitution - Missense(6)	p.I1077V(3)|p.I1029V(3)	lung(2)|prostate(2)|endometrium(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3229-3231)Ata>Gta		HYDIN, axonemal central pair apparatus protein							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val					HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	p.I1077V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			22	3379	-		Ovarian(137;0.0654)	1077		I -> V (in dbSNP:rs6416709).			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	41	0	0	0	1	0	3	41				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	136	0	0	0	1	0	7	136				
C9orf3	84909	broad.mit.edu	37	9	97717559	97717559	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr9:97717559A>G	ENST00000375315.2	+	7	1762	c.1762A>G	c.(1762-1764)Aag>Gag	p.K588E	C9orf3_ENST00000297979.5_Missense_Mutation_p.K489E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	588					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCATTATTTAAAGGTAAGCAC	0.423																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1762-1764)Aag>Gag		chromosome 9 open reading frame 3							94.0	82.0	86.0					9																	97717559		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97717559A>G	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1762A>G	9.37:g.97717559A>G	ENSP00000364464:p.Lys588Glu					C9orf3_ENST00000297979.5_Missense_Mutation_p.K489E	p.K588E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	7	1762	+			588					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.1762A>G	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952565	0.73787	.	.	ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	H	0.95816	3.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;0.999	D;D;D;D	0.97110	0.999;1.0;0.99;0.997	T	0.70238	-0.4927	10	0.87932	D	0	-25.926	12.6087	0.56538	1.0:0.0:0.0:0.0	.	7;588;489;489	E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.;AMPO_HUMAN;.;.	E	489;588;312;370;7	ENSP00000297979:K489E;ENSP00000364464:K588E;ENSP00000402171:K312E;ENSP00000401854:K370E	ENSP00000297979:K489E	K	+	1	0	C9orf3	96757380	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.260000	0.72502	2.226000	0.72624	0.533000	0.62120	AAG		0.423	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		24	30	0	0	0	1	0	24	30				
PCDHB4	56131	broad.mit.edu	37	5	140502423	140502423	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr5:140502423C>A	ENST00000194152.1	+	1	843	c.843C>A	c.(841-843)ttC>ttA	p.F281L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGCTTATTCCAAGCATCAG	0.368																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(841-843)ttC>ttA									97.0	112.0	107.0					5																	140502423		2201	4300	6501	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502423C>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.843C>A	5.37:g.140502423C>A	ENSP00000194152:p.Phe281Leu						p.F281L	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	843	+			281			Cadherin 3.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.843C>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	5.160	0.215057	0.09810	.	.	ENSG00000081818	ENST00000194152	T	0.39592	1.07	4.41	-0.895	0.10560	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18882	0.0453	N	0.05230	-0.09	0.21290	N	0.999737	B	0.17038	0.02	B	0.28991	0.097	T	0.26538	-1.0100	9	0.34782	T	0.22	.	1.6978	0.02866	0.1342:0.3583:0.1322:0.3753	.	281	Q9Y5E5	PCDB4_HUMAN	L	281	ENSP00000194152:F281L	ENSP00000194152:F281L	F	+	3	2	PCDHB4	140482607	0.017000	0.18338	0.267000	0.24556	0.616000	0.37450	0.378000	0.20569	-0.016000	0.14127	0.650000	0.86243	TTC		0.368	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		4	122	1	0	0.0215528	1	0.0215528	4	122				
TTLL6	284076	broad.mit.edu	37	17	46868938	46868938	+	Silent	SNP	C	C	T			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:46868938C>T	ENST00000393382.3	-	9	1167	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L	TTLL6_ENST00000433608.2_Silent_p.L35L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTGGTCCTCCAAGTATGCAC	0.557											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1024-1026)ttG>ttA		tubulin tyrosine ligase-like family, member 6							247.0	175.0	199.0					17																	46868938		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46868938C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1026G>A	17.37:g.46868938C>T			OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	TTLL6_ENST00000433608.2_Silent_p.L35L	p.L342L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			9	1167	-			294			TTL.			Silent	SNP	ENST00000393382.3	37	c.1026G>A	CCDS45724.1																																																																																				0.557	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		24	42	0	0	0	1	0	24	42				
INTS4	92105	broad.mit.edu	37	11	77702156	77702156	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr11:77702156T>C	ENST00000534064.1	-	2	278	c.244A>G	c.(244-246)Aag>Gag	p.K82E	INTS4_ENST00000529807.1_Missense_Mutation_p.K82E|INTS4_ENST00000527522.1_Missense_Mutation_p.K82E	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	82					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTTCTTACCTTGTAATAATGT	0.418																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(244-246)Aag>Gag		integrator complex subunit 4							86.0	85.0	85.0					11																	77702156		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77702156T>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.244A>G	11.37:g.77702156T>C	ENSP00000434466:p.Lys82Glu					INTS4_ENST00000529807.1_Missense_Mutation_p.K82E|INTS4_ENST00000527522.1_Missense_Mutation_p.K82E	p.K82E	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		2	278	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		82					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.244A>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	T	32	5.174823	0.94807	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	T;T	0.64991	-0.13;1.47	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.76898	-0.2789	10	0.49607	T	0.09	-19.0133	15.6077	0.76685	0.0:0.0:0.0:1.0	.	82	Q96HW7	INT4_HUMAN	E	82	ENSP00000434466:K82E;ENSP00000433644:K82E	ENSP00000407787:K82E	K	-	1	0	INTS4	77379804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.272000	0.75746	0.523000	0.50628	AAG		0.418	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		3	60	0	0	0	1	0	3	60				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	163	0	0	0	1	0	5	163				
RFX6	222546	broad.mit.edu	37	6	117203568	117203568	+	Silent	SNP	G	G	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr6:117203568G>A	ENST00000332958.2	+	4	559	c.543G>A	c.(541-543)cgG>cgA	p.R181R		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	181			R -> Q (in MTCHRS; abolishes DNA- binding). {ECO:0000269|PubMed:20148032}.		endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAACAAGGCGGCTTGGAACAA	0.393																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(541-543)cgG>cgA		regulatory factor X, 6							103.0	89.0	93.0					6																	117203568		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117203568G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.543G>A	6.37:g.117203568G>A							p.R181R	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			4	559	+			181		R -> Q (in MIRIS; abolishes DNA-binding).			Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.543G>A	CCDS5113.1																																																																																				0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		4	65	0	0	0	1	0	4	65				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	137	0	0	0	1	0	7	137				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																653390							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	93	0	0	0	1	0	5	93				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	113	0	0	0	1	0	4	113				
POPDC3	64208	broad.mit.edu	37	6	105609351	105609351	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr6:105609351G>A	ENST00000254765.3	-	2	712	c.434C>T	c.(433-435)gCc>gTc	p.A145V	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	145					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CCCCTGCATGGCATAACAGTG	0.443																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(433-435)gCc>gTc		popeye domain containing 3							125.0	129.0	127.0					6																	105609351		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105609351G>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.434C>T	6.37:g.105609351G>A	ENSP00000254765:p.Ala145Val					BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron	p.A145V	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			2	712	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	145					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.434C>T	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175650	0.94807	.	.	ENSG00000132429	ENST00000254765	T	0.50277	0.75	5.66	5.66	0.87406	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67814	-0.5573	10	0.49607	T	0.09	-9.4632	19.7218	0.96145	0.0:0.0:1.0:0.0	.	145	Q9HBV1	POPD3_HUMAN	V	145	ENSP00000254765:A145V	ENSP00000254765:A145V	A	-	2	0	POPDC3	105716044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.669000	0.90835	0.655000	0.94253	GCC		0.443	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		33	66	0	0	0	1	0	33	66				
FBF1	85302	broad.mit.edu	37	17	73909901	73909901	+	Splice_Site	SNP	C	C	T			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:73909901C>T	ENST00000586717.1	-	27	3358		c.e27-1		FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site|RP11-552F3.12_ENST00000587556.1_5'Flank			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1						apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCAGATGCTCCTGTCCCCGTT	0.677																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.e27-1		Fas (TNFRSF6) binding factor 1							18.0	21.0	20.0					17																	73909901		2002	4179	6181	SO:0001630	splice_region_variant	85302							g.chr17:73909901C>T	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.3085-1G>A	17.37:g.73909901C>T						FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site				A6NLR5	A6NLR5_HUMAN			27	3358	-								B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000586717.1	37			.	.	.	.	.	.	.	.	.	.	C	21.7	4.189074	0.78789	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7731	0.85544	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBF1	71421496	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.654000	0.54453	2.286000	0.76751	0.455000	0.32223	.		0.677	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	Intron	6	7	0	0	0	1	0	6	7				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			7	23						7	23	---	---	---	---
TSC22D2	9819	broad.mit.edu	37	3	150128088	150128088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr3:150128088delG	ENST00000361875.3	+	1	1967	c.951delG	c.(949-951)gcgfs	p.A317fs	TSC22D2_ENST00000361136.2_Frame_Shift_Del_p.A317fs	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	317					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCAGGGAGCGGGGCCCGGGG	0.756																																						ENST00000361875.2																			0				cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(949-951)gcfs		TSC22 domain family, member 2							4.0	5.0	4.0					3																	150128088		1713	3399	5112	SO:0001589	frameshift_variant	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150128088delG	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.951delG	3.37:g.150128088delG	ENSP00000354543:p.Ala317fs					TSC22D2_ENST00000361136.2_Frame_Shift_Del_p.A317fs	p.A317fs	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	1967	+			317					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Frame_Shift_Del	DEL	ENST00000361875.3	37	c.951delG	CCDS3149.1																																																																																				0.756	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		2	4						2	4	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr7:114271580_114271582delCAG	ENST00000393494.2	+	6	876		c.e6-1		FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114271580_114271582delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1CAG>-	7.37:g.114271589_114271591delCAG						FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000378237.3_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	DEL	ENST00000393494.2	37		CCDS5760.1																																																																																				0.512	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	2	4						2	4	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409540	22409541	+	RNA	INS	-	-	C	rs200693606|rs371270332|rs550259665	byFrequency	TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr14:22409540_22409541insC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		tctctctctctTTTTTTTTTTC	0.426																																						ENST00000390441.2																			0																	154,3322		5,144,1589							0.0		dbSNP_129	22	434,7342		4,426,3458	no	intergenic				9,570,5047	A1A1,A1R,RR		5.5813,4.4304,5.2257				588,10664						28677							g.chr14:22409540_22409541insC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409540_22409541insC														0	102	+									RNA	INS	ENST00000390441.2	37																																																																																						0.426	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		4	5						4	5	---	---	---	---
