#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
PSG7	5676	broad.mit.edu	37	19	43439887	43439887	+	RNA	SNP	T	T	A			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr19:43439887T>A	ENST00000406070.2	-	0	195				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGACTTGGGCTGTGGTGGGCG	0.493																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							137.0	142.0	141.0					19																	43439887		2202	4300	6502			5676				female pregnancy	extracellular region		g.chr19:43439887T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439887T>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	195	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		5	182	0	0	0	1	0	5	182				
TPTE2P2	644623	broad.mit.edu	37	13	52855033	52855033	+	RNA	SNP	A	A	G	rs187910190	byFrequency	TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr13:52855033A>G	ENST00000451298.1	-	0	396																											GTCTTTTTAGATGAGCCAGAT	0.343													A|||	10	0.00199681	0.0	0.0	5008	,	,		21373	0.001		0.007	False		,,,				2504	0.002					ENST00000451298.1																			0																																																			644623							g.chr13:52855033A>G																													13.37:g.52855033A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	396	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.343	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			6	14	0	0	0	1	0	6	14				
HIST1H2BC	8347	broad.mit.edu	37	6	26123939	26123939	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr6:26123939G>T	ENST00000314332.5	-	1	199	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65Y|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	65					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S65Y(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GTTAACGAAAGAATTCATGAT	0.562																																						ENST00000314332.5																			1	Substitution - Missense(1)	p.S65Y(1)	large_intestine(1)	NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						c.(193-195)tCt>tAt		histone cluster 1, H2bc							161.0	152.0	155.0					6																	26123939		2203	4300	6503	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26123939G>T	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.194C>A	6.37:g.26123939G>T	ENSP00000321744:p.Ser65Tyr					HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65Y	p.S65Y			P62807	H2B1C_HUMAN			1	199	-			65					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.194C>A	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.093851	0.76870	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.71103	-0.54;-0.54	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.83640	0.5298	.	.	.	0.46279	D	0.998964	D	0.89917	1.0	D	0.85130	0.997	D	0.84829	0.0801	8	0.87932	D	0	.	18.9929	0.92801	0.0:0.0:1.0:0.0	.	65	P62807	H2B1C_HUMAN	Y	65	ENSP00000321744:S65Y;ENSP00000380180:S65Y	ENSP00000321744:S65Y	S	-	2	0	HIST1H2BC	26231918	1.000000	0.71417	0.993000	0.49108	0.146000	0.21551	7.708000	0.84633	2.799000	0.96334	0.650000	0.86243	TCT		0.562	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		50	115	1	0	3.21987e-24	1	3.62236e-24	50	115				
KDM5A	5927	broad.mit.edu	37	12	464375	464375	+	Silent	SNP	G	G	A	rs377672033		TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr12:464375G>A	ENST00000399788.2	-	7	1181	c.819C>T	c.(817-819)gaC>gaT	p.D273D	KDM5A_ENST00000382815.4_Silent_p.D273D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	273					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTTAAATGCGTCTGACCTGT	0.373			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(817-819)gaC>gaT		lysine (K)-specific demethylase 5A		G		0,3736		0,0,1868	141.0	133.0	136.0		819	-2.0	1.0	12		136	1,8199		0,1,4099	no	coding-synonymous	KDM5A	NM_001042603.1		0,1,5967	AA,AG,GG		0.0122,0.0,0.0084		273/1691	464375	1,11935	1868	4100	5968	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:464375G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.819C>T	12.37:g.464375G>A						KDM5A_ENST00000382815.4_Silent_p.D273D	p.D273D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			7	1181	-			273					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.819C>T	CCDS41736.1																																																																																				0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		6	67	0	0	0	1	0	6	67				
AFF4	27125	broad.mit.edu	37	5	132272835	132272835	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr5:132272835C>T	ENST00000265343.5	-	2	426	c.47G>A	c.(46-48)aGg>aAg	p.R16K	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.R16K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	16					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGATTCCGCCTTTCCCGTTC	0.433																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(46-48)aGg>aAg		AF4/FMR2 family, member 4							90.0	73.0	79.0					5																	132272835		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132272835C>T	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.47G>A	5.37:g.132272835C>T	ENSP00000265343:p.Arg16Lys					AFF4_ENST00000378595.3_Missense_Mutation_p.R16K|AFF4_ENST00000491831.1_5'UTR	p.R16K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	426	-		all_cancers(142;0.145)|Breast(839;0.198)	16					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.47G>A	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726126	0.96847	.	.	ENSG00000072364	ENST00000265343;ENST00000378595;ENST00000421773	T;T;T	0.77358	-1.09;-1.09;-1.09	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.84082	2.675	0.80722	D	1	D;D;D	0.61697	0.959;0.99;0.979	D;D;D	0.74023	0.937;0.979;0.982	D	0.89164	0.3532	10	0.52906	T	0.07	-16.3092	19.8978	0.96973	0.0:1.0:0.0:0.0	.	16;16;16	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	K	16	ENSP00000265343:R16K;ENSP00000367858:R16K;ENSP00000395268:R16K	ENSP00000265343:R16K	R	-	2	0	AFF4	132300734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.703000	0.92315	0.557000	0.71058	AGG		0.433	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		5	35	0	0	0	1	0	5	35				
MED30	90390	broad.mit.edu	37	8	118533175	118533175	+	Missense_Mutation	SNP	G	G	C			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr8:118533175G>C	ENST00000297347.3	+	1	224	c.60G>C	c.(58-60)caG>caC	p.Q20H	MED30_ENST00000522839.1_Missense_Mutation_p.Q20H	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	20					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCGGGCCCCAGGCTCAGCAGG	0.706																																					Melanoma(81;817 1341 9674 26244 29255)	ENST00000297347.3																			0				kidney(1)|lung(3)|prostate(3)	7						c.(58-60)caG>caC		mediator complex subunit 30							13.0	14.0	14.0					8																	118533175		2182	4271	6453	SO:0001583	missense	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118533175G>C	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.60G>C	8.37:g.118533175G>C	ENSP00000297347:p.Gln20His					MED30_ENST00000522839.1_Missense_Mutation_p.Q20H	p.Q20H	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		1	224	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		20					C6GKU9	Missense_Mutation	SNP	ENST00000297347.3	37	c.60G>C	CCDS6323.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170369	0.57584	.	.	ENSG00000164758	ENST00000297347;ENST00000522839	.	.	.	5.52	1.3	0.21679	.	0.111534	0.64402	D	0.000007	T	0.46737	0.1408	L	0.47716	1.5	0.58432	D	0.999998	P;D	0.56521	0.932;0.976	P;P	0.47528	0.549;0.549	T	0.36866	-0.9730	9	0.45353	T	0.12	-8.9446	8.5281	0.33317	0.4227:0.0:0.5773:0.0	.	20;20	C6GKU9;Q96HR3	.;MED30_HUMAN	H	20	.	ENSP00000297347:Q20H	Q	+	3	2	MED30	118602356	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	1.901000	0.39838	0.313000	0.23062	0.563000	0.77884	CAG		0.706	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		5	24	0	0	0	1	0	5	24				
MAPK6	5597	broad.mit.edu	37	15	52339183	52339183	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr15:52339183C>T	ENST00000261845.5	+	2	1333	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTCTTGCACGGATCATGGA	0.383																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(526-528)Cgg>Tgg		mitogen-activated protein kinase 6							92.0	93.0	93.0					15																	52339183		2177	4278	6455	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52339183C>T	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.526C>T	15.37:g.52339183C>T	ENSP00000261845:p.Arg176Trp						p.R176W	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	2	1333	+			176			Protein kinase.		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.526C>T	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806578	0.70682	.	.	ENSG00000069956	ENST00000261845	T	0.68025	-0.3	5.53	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	H	0.95114	3.625	0.80722	D	1	B	0.30741	0.293	B	0.22386	0.039	T	0.80830	-0.1207	10	0.87932	D	0	-2.9694	14.8169	0.70041	0.0:0.9295:0.0:0.0705	.	176	Q16659	MK06_HUMAN	W	176	ENSP00000261845:R176W	ENSP00000261845:R176W	R	+	1	2	MAPK6	50126475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.882000	0.56160	2.636000	0.89361	0.650000	0.86243	CGG		0.383	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		24	64	0	0	0	1	0	24	64				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			414212							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	26	0	0	0	1	0	4	26				
ATP1B4	23439	broad.mit.edu	37	X	119505020	119505020	+	Missense_Mutation	SNP	G	G	C			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chrX:119505020G>C	ENST00000218008.3	+	4	574	c.517G>C	c.(517-519)Gac>Cac	p.D173H	ATP1B4_ENST00000361319.3_Missense_Mutation_p.D169H|ATP1B4_ENST00000539306.1_Missense_Mutation_p.D130H	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	173					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCTGAACCCGACACTTGGCA	0.428																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(517-519)Gac>Cac		ATPase, Na+/K+ transporting, beta 4 polypeptide							129.0	107.0	115.0					X																	119505020		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119505020G>C	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.517G>C	X.37:g.119505020G>C	ENSP00000218008:p.Asp173His					ATP1B4_ENST00000539306.1_Missense_Mutation_p.D130H|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D169H	p.D173H	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			4	574	+			173					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.517G>C	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085970	0.36758	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.30182	1.54;1.54;1.54	5.51	4.53	0.55603	.	0.225560	0.51477	D	0.000087	T	0.16599	0.0399	N	0.16903	0.455	0.31542	N	0.659784	B;B;B;B	0.14012	0.009;0.001;0.009;0.007	B;B;B;B	0.22386	0.039;0.013;0.039;0.023	T	0.05178	-1.0901	10	0.41790	T	0.15	-10.9426	3.907	0.09186	0.2725:0.0:0.7275:0.0	.	130;138;173;169	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	H	173;169;130	ENSP00000218008:D173H;ENSP00000355346:D169H;ENSP00000443334:D130H	ENSP00000218008:D173H	D	+	1	0	ATP1B4	119389048	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.807000	0.62576	2.293000	0.77203	0.544000	0.68410	GAC		0.428	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		11	52	0	0	0	1	0	11	52				
HTT	3064	broad.mit.edu	37	4	3237362	3237362	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr4:3237362G>T	ENST00000355072.5	+	63	8787	c.8642G>T	c.(8641-8643)gGc>gTc	p.G2881V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2881					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCCTCAGAGGCCTGGAGCGC	0.597																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(8641-8643)gGc>gTc		huntingtin							41.0	46.0	44.0					4																	3237362		2104	4212	6316	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3237362G>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8642G>T	4.37:g.3237362G>T	ENSP00000347184:p.Gly2881Val						p.G2881V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	63	8787	+		all_epithelial(65;0.18)	2881					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.8642G>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453972	0.84209	.	.	ENSG00000197386	ENST00000355072	T	0.69040	-0.37	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85375	0.1116	10	0.87932	D	0	.	16.7442	0.85467	0.0:0.0:1.0:0.0	.	2881	P42858	HD_HUMAN	V	2881	ENSP00000347184:G2881V	ENSP00000347184:G2881V	G	+	2	0	HTT	3207160	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	9.208000	0.95075	2.502000	0.84385	0.462000	0.41574	GGC		0.597	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		10	23	1	0	4.68919e-08	1	4.96502e-08	10	23				
FAM167A	83648	broad.mit.edu	37	8	11282013	11282013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr8:11282013C>A	ENST00000528897.1	-	3	1133	c.514G>T	c.(514-516)Gag>Tag	p.E172*	C8orf12_ENST00000529305.1_Intron|FAM167A_ENST00000534308.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000531564.1_5'UTR|FAM167A_ENST00000284486.4_Nonsense_Mutation_p.E172*			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	172										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TCCCGCTCCTCCAGCTCGTAG	0.577																																						ENST00000284486.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						c.(514-516)Gag>Tag		family with sequence similarity 167, member A							186.0	132.0	150.0					8																	11282013		2203	4300	6503	SO:0001587	stop_gained	83648							g.chr8:11282013C>A		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.514G>T	8.37:g.11282013C>A	ENSP00000436655:p.Glu172*					FAM167A_ENST00000531564.1_5'UTR|FAM167A_ENST00000528897.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000534308.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000529305.1_Intron	p.E172*	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN			3	1052	-			172					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Nonsense_Mutation	SNP	ENST00000528897.1	37	c.514G>T	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	41	8.775364	0.98950	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897	.	.	.	5.04	5.04	0.67666	.	0.116585	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.2231	17.6189	0.88075	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000284486:E172X	E	-	1	0	FAM167A	11319423	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.502000	0.66956	2.627000	0.88993	0.650000	0.86243	GAG		0.577	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			4	47	1	0	1	1	1	4	47				
BARHL1	56751	broad.mit.edu	37	9	135458232	135458232	+	Silent	SNP	C	C	T			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr9:135458232C>T	ENST00000263610.2	+	1	661	c.48C>T	c.(46-48)cgC>cgT	p.R16R	BARHL1_ENST00000542090.1_Silent_p.R16R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	16					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCTCCCACCGCGCGGGCAGCC	0.657																																						ENST00000263610.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(46-48)cgC>cgT		BarH-like homeobox 1							53.0	56.0	55.0					9																	135458232		2203	4300	6503	SO:0001819	synonymous_variant	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135458232C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.48C>T	9.37:g.135458232C>T						BARHL1_ENST00000542090.1_Silent_p.R16R	p.R16R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	1	661	+			16					Q5T6V2|Q9NY88	Silent	SNP	ENST00000263610.2	37	c.48C>T	CCDS6950.1																																																																																				0.657	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			24	62	0	0	0	1	0	24	62				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714					ENST00000414190.2																			0																																																			642402							g.chr15:85053142C>T																													15.37:g.85053142C>T								NR_003246.2						0	310	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			3	13	0	0	0	1	0	3	13				
DBF4	10926	broad.mit.edu	37	7	87514300	87514302	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr7:87514300_87514302delGAA	ENST00000265728.1	+	3	730_732	c.226_228delGAA	c.(226-228)gaadel	p.E77del		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	77	BRCT 1.				DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTAGCGAGTTGAAGAATTTCTCA	0.35																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(226-228)del		DBF4 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87514300_87514302delGAA	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.226_228delGAA	7.37:g.87514303_87514305delGAA	ENSP00000265728:p.Glu77del						p.E77del	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			3	730_732	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	77			BRCT 1.		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	In_Frame_Del	DEL	ENST00000265728.1	37	c.226_228delGAA	CCDS5611.1																																																																																				0.350	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		10	41						10	41	---	---	---	---
