#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			6	138	0	0	0	0.001168	0	6	138				
PRRC2A	7916	broad.mit.edu	37	6	31602045	31602045	+	Missense_Mutation	SNP	C	C	A	rs146122581		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:31602045C>A	ENST00000376033.2	+	19	4986	c.4752C>A	c.(4750-4752)ttC>ttA	p.F1584L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.F1584L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1584	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTCTGGATTCTTGGGCTCTA	0.527																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4750-4752)ttC>ttA		proline-rich coiled-coil 2A							297.0	370.0	344.0					6																	31602045		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31602045C>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4752C>A	6.37:g.31602045C>A	ENSP00000365201:p.Phe1584Leu					PRRC2A_ENST00000376007.4_Missense_Mutation_p.F1584L	p.F1584L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			19	4986	+			1584			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.4752C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057987	0.36277	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01685	4.69;4.69	5.31	2.53	0.30540	.	0.201305	0.35970	N	0.002876	T	0.00496	0.0016	N	0.19112	0.55	0.32582	N	0.528301	B	0.06786	0.001	B	0.08055	0.003	T	0.49214	-0.8963	10	0.87932	D	0	-1.1559	4.6779	0.12720	0.0:0.5857:0.1592:0.2551	.	1584	P48634	PRC2A_HUMAN	L	1578;1567;1584;1584;809	ENSP00000365175:F1584L;ENSP00000365201:F1584L	ENSP00000365175:F1584L	F	+	3	2	PRRC2A	31710024	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.139000	0.16036	0.369000	0.24510	0.561000	0.74099	TTC		0.527	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	489	1	0	5.18039e-06	0.003080	7.67465e-06	8	489				
ARID1B	57492	broad.mit.edu	37	6	157521926	157521926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:157521926C>T	ENST00000350026.5	+	17	4160	c.4159C>T	c.(4159-4161)Cag>Tag	p.Q1387*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1382*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1440*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q1400*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1387					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCAGCCAGCAGCAGGAGAT	0.592																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4198-4200)Cag>Tag		AT rich interactive domain 1B (SWI1-like)							62.0	66.0	65.0					6																	157521926		2203	4296	6499	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521926C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4159C>T	6.37:g.157521926C>T	ENSP00000055163:p.Gln1387*					ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1440*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1387*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1382*	p.Q1400*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4199	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1387					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.4198C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	41	8.812488	0.98964	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.414	0.90562	0.0:1.0:0.0:0.0	.	.	.	.	X	1400;1387;1440;1382;909	.	ENSP00000275248:Q1382X	Q	+	1	0	ARID1B	157563618	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	6.988000	0.76212	2.413000	0.81919	0.655000	0.94253	CAG		0.592	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		26	44	0	0	0	0.003954	0	26	44				
TTN	7273	broad.mit.edu	37	2	179580380	179580380	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:179580380C>G	ENST00000591111.1	-	87	25034	c.24810G>C	c.(24808-24810)gaG>gaC	p.E8270D	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E8587D|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7343D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12448	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTTCAGTCTCGTCCTTAT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25759-25761)gaG>gaC		titin							84.0	82.0	82.0					2																	179580380		1939	4145	6084	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179580380C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24810G>C	2.37:g.179580380C>G	ENSP00000465570:p.Glu8270Asp					TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8270D|TTN_ENST00000342992.6_Missense_Mutation_p.E7343D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.E8587D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	25985	-			8270			Ig-like 68.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25761G>C		.	.	.	.	.	.	.	.	.	.	C	12.36	1.915378	0.33815	.	.	ENSG00000155657	ENST00000342992	T	0.39406	1.08	5.33	2.39	0.29439	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17109	0.0411	N	0.03177	-0.4	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	9	0.87932	D	0	.	2.6498	0.04995	0.3855:0.3571:0.0:0.2574	.	8270	Q8WZ42	TITIN_HUMAN	D	7343	ENSP00000343764:E7343D	ENSP00000343764:E7343D	E	-	3	2	TTN	179288625	0.863000	0.29885	1.000000	0.80357	0.966000	0.64601	0.321000	0.19558	1.375000	0.46248	-0.136000	0.14681	GAG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	18	0	0	0	0.004482	0	9	18				
ZBTB40	9923	broad.mit.edu	37	1	22816958	22816958	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr1:22816958G>T	ENST00000375647.4	+	2	724	c.517G>T	c.(517-519)Gct>Tct	p.A173S	ZBTB40_ENST00000404138.1_Missense_Mutation_p.A173S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.A173S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	173					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCCTGTGAAAGCTGAGACTGA	0.542																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(517-519)Gct>Tct		zinc finger and BTB domain containing 40							143.0	159.0	153.0					1																	22816958		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22816958G>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.517G>T	1.37:g.22816958G>T	ENSP00000364798:p.Ala173Ser					ZBTB40_ENST00000375647.4_Missense_Mutation_p.A173S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.A173S	p.A173S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	3	1028	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	173					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.517G>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829658	0.71258	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.07908	3.15;3.15;3.27;3.16	4.94	3.96	0.45880	.	0.257978	0.27424	N	0.019436	T	0.10852	0.0265	L	0.60455	1.87	0.09310	N	1	B;B	0.30281	0.275;0.18	B;B	0.38803	0.282;0.146	T	0.20107	-1.0285	10	0.15952	T	0.53	-12.3703	9.1729	0.37093	0.0:0.1576:0.6801:0.1624	.	173;173	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	173;127;173;173;173	ENSP00000384527:A173S;ENSP00000364798:A173S;ENSP00000383098:A173S;ENSP00000363782:A173S	ENSP00000363780:A127S	A	+	1	0	ZBTB40	22689545	0.985000	0.35326	0.729000	0.30791	0.450000	0.32258	2.123000	0.41996	2.444000	0.82710	0.591000	0.81541	GCT		0.542	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		13	219	1	0	6.72482e-11	0.003163	1.03459e-10	13	219				
PCDHA8	56140	broad.mit.edu	37	5	140222123	140222123	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr5:140222123C>T	ENST00000531613.1	+	1	1217	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S406L|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTACTACTCGTTGGTGCTG	0.632																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1216-1218)tCg>tTg									138.0	123.0	128.0					5																	140222123		2203	4299	6502	SO:0001583	missense	0							g.chr5:140222123C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1217C>T	5.37:g.140222123C>T	ENSP00000434655:p.Ser406Leu					PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S406L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.S406L	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1217	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1217C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380367	0.61845	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.02631	4.22;4.22	3.57	3.57	0.40892	Cadherin (4);Cadherin-like (1);	0.000000	0.33895	U	0.004458	T	0.09992	0.0245	L	0.45422	1.42	0.34296	D	0.683815	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.963	T	0.15925	-1.0420	10	0.72032	D	0.01	.	15.5787	0.76414	0.0:1.0:0.0:0.0	.	406;406	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	406	ENSP00000434655:S406L;ENSP00000367363:S406L	ENSP00000367363:S406L	S	+	2	0	PCDHA8	140202307	0.001000	0.12720	0.603000	0.28903	0.463000	0.32649	0.896000	0.28377	1.709000	0.51313	0.306000	0.20318	TCG		0.632	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		71	146	0	0	0	0.003610	0	71	146				
KCMF1	56888	broad.mit.edu	37	2	85276643	85276643	+	Silent	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:85276643C>T	ENST00000409785.4	+	6	1115	c.756C>T	c.(754-756)cgC>cgT	p.R252R		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	252							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AGACCGCACGCAACGCAACCC	0.537																																						ENST00000409785.3																			0				ovary(3)	3						c.(754-756)cgC>cgT		potassium channel modulatory factor 1							114.0	126.0	122.0					2																	85276643		2197	4296	6493	SO:0001819	synonymous_variant	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85276643C>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.756C>T	2.37:g.85276643C>T							p.R252R	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			6	1115	+			252					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Silent	SNP	ENST00000409785.4	37	c.756C>T	CCDS46350.1																																																																																				0.537	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		8	40	0	0	0	0.003080	0	8	40				
ZNF141	7700	broad.mit.edu	37	4	366799	366799	+	Silent	SNP	A	A	G			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr4:366799A>G	ENST00000240499.7	+	4	722	c.573A>G	c.(571-573)gtA>gtG	p.V191V	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	191					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AACATAAGGTAATTCATGCTG	0.343																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(571-573)gtA>gtG		zinc finger protein 141							66.0	71.0	70.0					4																	366799		2201	4299	6500	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:366799A>G	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.573A>G	4.37:g.366799A>G						ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	p.V191V	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	722	+			191					Q6DK07	Silent	SNP	ENST00000240499.7	37	c.573A>G	CCDS33931.1																																																																																				0.343	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		18	71	0	0	0	0.008871	0	18	71				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	7	63	0	0	0	0.003080	0	7	63				
TAAR5	9038	broad.mit.edu	37	6	132910122	132910122	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:132910122G>A	ENST00000258034.2	-	1	755	c.704C>T	c.(703-705)aCa>aTa	p.T235I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	235					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TTTGCTCAATGTGGTAATCTG	0.502																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(703-705)aCa>aTa		trace amine associated receptor 5							45.0	45.0	45.0					6																	132910122		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910122G>A	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.704C>T	6.37:g.132910122G>A	ENSP00000258034:p.Thr235Ile						p.T235I	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	755	-	Breast(56;0.112)		235					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.704C>T	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190753	0.06299	.	.	ENSG00000135569	ENST00000258034	T	0.38560	1.13	5.58	-0.832	0.10785	GPCR, rhodopsin-like superfamily (1);	0.280628	0.27231	N	0.020304	T	0.14013	0.0339	L	0.52266	1.64	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24941	-1.0146	10	0.59425	D	0.04	-3.8993	5.5091	0.16870	0.0608:0.3161:0.202:0.4211	.	235	O14804	TAAR5_HUMAN	I	235	ENSP00000258034:T235I	ENSP00000258034:T235I	T	-	2	0	TAAR5	132951815	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.284000	0.08422	-0.058000	0.13177	0.655000	0.94253	ACA		0.502	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		18	29	0	0	0	0.007413	0	18	29				
MYOM2	9172	broad.mit.edu	37	8	2027691	2027691	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr8:2027691G>C	ENST00000262113.4	+	13	1654	c.1513G>C	c.(1513-1515)Gaa>Caa	p.E505Q	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	505					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGATGACCTTGAAGGTAAGTA	0.512																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1513-1515)Gaa>Caa		myomesin 2							233.0	224.0	227.0					8																	2027691		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2027691G>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1513G>C	8.37:g.2027691G>C	ENSP00000262113:p.Glu505Gln					MYOM2_ENST00000523438.1_Intron	p.E505Q	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	13	1654	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	505					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1513G>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904729	0.52333	.	.	ENSG00000036448	ENST00000262113	T	0.54675	0.56	5.26	5.26	0.73747	.	0.138038	0.48286	D	0.000185	T	0.64125	0.2570	M	0.76002	2.32	0.80722	D	1	D	0.55800	0.973	P	0.49528	0.614	T	0.67791	-0.5579	10	0.48119	T	0.1	.	18.8744	0.92328	0.0:0.0:1.0:0.0	.	505	P54296	MYOM2_HUMAN	Q	505	ENSP00000262113:E505Q	ENSP00000262113:E505Q	E	+	1	0	MYOM2	2015098	1.000000	0.71417	0.942000	0.38095	0.025000	0.11179	7.783000	0.85696	2.449000	0.82847	0.655000	0.94253	GAA		0.512	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	230	0	0	0	0.001168	0	6	230				
RBM4B	83759	broad.mit.edu	37	11	66436191	66436191	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:66436191T>A	ENST00000525754.1	-	2	1652	c.984A>T	c.(982-984)ttA>ttT	p.L328F	RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000310046.4_Missense_Mutation_p.L328F|RP11-658F2.8_ENST00000550837.1_RNA			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	328	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AAGCCTGAGATAATTCACTCT	0.552																																						ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(982-984)ttA>ttT		RNA binding motif protein 4B							62.0	56.0	58.0					11																	66436191		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436191T>A	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.984A>T	11.37:g.66436191T>A	ENSP00000433071:p.Leu328Phe					RBM4B_ENST00000310046.4_Missense_Mutation_p.L328F|RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron	p.L328F			Q9BQ04	RBM4B_HUMAN			2	1652	-			328			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.984A>T	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471557	0.63737	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.27890	1.64;1.64	6.16	4.2	0.49525	.	0.300842	0.36628	N	0.002489	T	0.44973	0.1319	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.26292	-1.0107	10	0.48119	T	0.1	-4.0864	10.6089	0.45410	0.0:0.8142:0.0:0.1858	.	328	Q9BQ04	RBM4B_HUMAN	F	328	ENSP00000433071:L328F;ENSP00000310471:L328F	ENSP00000310471:L328F	L	-	3	2	RBM4B	66192767	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.018000	0.30002	0.823000	0.34589	-0.297000	0.09499	TTA		0.552	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		19	40	0	0	0	0.006122	0	19	40				
DNTT	1791	broad.mit.edu	37	10	98087290	98087290	+	Silent	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr10:98087290C>T	ENST00000371174.2	+	7	1042	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L	DNTT_ENST00000419175.1_Silent_p.L314L			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	314	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CGTCAGTGTGCTGGTTAAAGA	0.522																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(940-942)Ctg>Ttg		DNA nucleotidylexotransferase							268.0	244.0	252.0					10																	98087290		2203	4300	6503	SO:0001819	synonymous_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98087290C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.940C>T	10.37:g.98087290C>T						DNTT_ENST00000371174.2_Silent_p.L314L	p.L314L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	7	1110	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	314			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Silent	SNP	ENST00000371174.2	37	c.940C>T	CCDS7447.1																																																																																				0.522	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		4	209	0	0	0	0.000248	0	4	209				
DNAI2	64446	broad.mit.edu	37	17	72278108	72278108	+	Missense_Mutation	SNP	T	T	A	rs564894784		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr17:72278108T>A	ENST00000311014.6	+	2	219	c.152T>A	c.(151-153)aTc>aAc	p.I51N	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000579490.1_Missense_Mutation_p.I108N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I51N|DNAI2_ENST00000582036.1_Missense_Mutation_p.I51N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	51					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACACGGGCATCCAGTGCTCG	0.662									Kartagener syndrome				T|||	1	0.000199681	0.0	0.0	5008	,	,		17730	0.001		0.0	False		,,,				2504	0.0					ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(322-324)aTc>aAc		dynein, axonemal, intermediate chain 2							119.0	103.0	109.0					17																	72278108		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72278108T>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.152T>A	17.37:g.72278108T>A	ENSP00000308312:p.Ile51Asn					DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.I51N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I51N|DNAI2_ENST00000311014.6_Missense_Mutation_p.I51N	p.I108N			Q9GZS0	DNAI2_HUMAN			1	458	+			51					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.323T>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.418078	0.42918	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.15603	2.41;2.41	5.22	3.04	0.35103	.	0.563763	0.19226	N	0.119523	T	0.27798	0.0684	M	0.83852	2.665	0.80722	D	1	P	0.38370	0.628	B	0.42692	0.395	T	0.02813	-1.1107	10	0.62326	D	0.03	-28.043	9.2297	0.37430	0.0:0.1449:0.0:0.8551	.	51	Q9GZS0	DNAI2_HUMAN	N	51	ENSP00000308312:I51N;ENSP00000400252:I51N	ENSP00000308312:I51N	I	+	2	0	DNAI2	69789703	0.683000	0.27633	0.996000	0.52242	0.627000	0.37826	2.121000	0.41977	0.479000	0.27511	0.524000	0.50904	ATC		0.662	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		27	53	0	0	0	0.002096	0	27	53				
MYCBP2	23077	broad.mit.edu	37	13	77673090	77673090	+	Silent	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr13:77673090C>T	ENST00000544440.2	-	56	8102	c.8085G>A	c.(8083-8085)gaG>gaA	p.E2695E	MYCBP2_ENST00000357337.6_Silent_p.E2695E|MYCBP2_ENST00000407578.2_Silent_p.E2733E|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Silent_p.E218E|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGAGGACAGCTCTGATTTTC	0.413																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8197-8199)gaG>gaA		MYC binding protein 2, E3 ubiquitin protein ligase							130.0	125.0	127.0					13																	77673090		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77673090C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8085G>A	13.37:g.77673090C>T						MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.E2695E|MYCBP2_ENST00000360084.5_Silent_p.E218E|MYCBP2_ENST00000544440.2_Silent_p.E2695E	p.E2733E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	8465	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2695			Ser-rich.			Silent	SNP	ENST00000544440.2	37	c.8199G>A																																																																																					0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		32	66	0	0	0	0.002836	0	32	66				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	39	0	0	0	0.004672	0	3	39				
CNGA4	1262	broad.mit.edu	37	11	6261928	6261928	+	Nonsense_Mutation	SNP	C	C	T	rs532111437		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:6261928C>T	ENST00000379936.2	+	4	1019	c.904C>T	c.(904-906)Cga>Tga	p.R302*	CNGA4_ENST00000533426.1_Nonsense_Mutation_p.R71*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	302					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGAGCGGCGAGTTATTGA	0.542																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(904-906)Cga>Tga		cyclic nucleotide gated channel alpha 4							72.0	63.0	66.0					11																	6261928		2201	4296	6497	SO:0001587	stop_gained	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261928C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.904C>T	11.37:g.6261928C>T	ENSP00000369268:p.Arg302*					CNGA4_ENST00000533426.1_Nonsense_Mutation_p.R71*	p.R302*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	1019	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	302						Nonsense_Mutation	SNP	ENST00000379936.2	37	c.904C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876360	0.72180	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	.	.	.	5.15	2.11	0.27256	.	0.119205	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0481	0.58939	0.5604:0.4396:0.0:0.0	.	.	.	.	X	71;302	.	ENSP00000369268:R302X	R	+	1	2	CNGA4	6218504	0.372000	0.25064	0.604000	0.28916	0.399000	0.30720	0.922000	0.28734	0.231000	0.21079	-0.268000	0.10319	CGA		0.542	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		14	40	0	0	0	0.002450	0	14	40				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	17	0	0	0	0.004672	0	3	17				
NAV3	89795	broad.mit.edu	37	12	78583811	78583811	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr12:78583811C>T	ENST00000397909.2	+	34	6276	c.6103C>T	c.(6103-6105)Cct>Tct	p.P2035S	NAV3_ENST00000266692.7_Missense_Mutation_p.P1836S|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013S|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.P2013S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2035						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACGCTGATTCCTAAACCAAT	0.353										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6103-6105)Cct>Tct		neuron navigator 3							113.0	104.0	107.0					12																	78583811		1923	4147	6070	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583811C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6103C>T	12.37:g.78583811C>T	ENSP00000381007:p.Pro2035Ser	HNSCC(70;0.22)				NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013S|NAV3_ENST00000536525.2_Missense_Mutation_p.P2013S|NAV3_ENST00000266692.7_Missense_Mutation_p.P1836S	p.P2035S			Q8IVL0	NAV3_HUMAN			34	6276	+			2035					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6103C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.903370|4.903370	0.92035|0.92035	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.88124|.	-2.34;-2.34;-2.34;-2.34;-2.34|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.40064|.	U|.	0.001197|.	T|T	0.78755|0.78755	0.4333|0.4333	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.89917|.	1.0;0.911;1.0;0.835|.	D;P;D;P|.	0.97110|.	1.0;0.608;0.998;0.628|.	T|T	0.79813|0.79813	-0.1645|-0.1645	10|5	0.72032|.	D|.	0.01|.	-15.9984|-15.9984	18.7239|18.7239	0.91705|0.91705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2013;1836;2035;2013|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	S|F	2013;2035;2013;1836;627;635|907	ENSP00000446132:P2013S;ENSP00000381007:P2035S;ENSP00000228327:P2013S;ENSP00000266692:P1836S;ENSP00000448303:P635S|.	ENSP00000228327:P2013S|.	P|S	+|+	1|2	0|0	NAV3|NAV3	77107942|77107942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.720000|7.720000	0.84759|0.84759	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.353	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		37	56	0	0	0	0.004289	0	37	56				
SAMD15	161394	broad.mit.edu	37	14	77844257	77844257	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr14:77844257G>A	ENST00000216471.4	+	1	782	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	166										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCACCAACGGAAACCATGTC	0.493																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(496-498)Gaa>Aaa		sterile alpha motif domain containing 15							90.0	98.0	95.0					14																	77844257		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77844257G>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.496G>A	14.37:g.77844257G>A	ENSP00000216471:p.Glu166Lys					SAMD15_ENST00000533095.2_Intron	p.E166K	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	782	+			166					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.496G>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056959	0.76074	.	.	ENSG00000100583	ENST00000216471	T	0.24350	1.86	5.57	0.192	0.15134	.	.	.	.	.	T	0.16257	0.0391	L	0.46157	1.445	0.09310	N	1	B	0.24618	0.107	B	0.22386	0.039	T	0.31806	-0.9930	9	0.18710	T	0.47	-12.2146	1.1572	0.01798	0.249:0.2793:0.3287:0.143	.	166	Q9P1V8	SAM15_HUMAN	K	166	ENSP00000216471:E166K	ENSP00000216471:E166K	E	+	1	0	SAMD15	76914010	0.001000	0.12720	0.001000	0.08648	0.389000	0.30415	0.532000	0.23067	0.029000	0.15352	0.555000	0.69702	GAA		0.493	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		35	82	0	0	0	0.003271	0	35	82				
HTATIP2	10553	broad.mit.edu	37	11	20404724	20404724	+	Silent	SNP	G	G	A			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:20404724G>A	ENST00000451739.2	+	5	1143	c.702G>A	c.(700-702)ggG>ggA	p.G234G	HTATIP2_ENST00000443524.2_Silent_p.G234G|HTATIP2_ENST00000421577.2_Silent_p.G234G|HTATIP2_ENST00000419348.2_Silent_p.G268G|HTATIP2_ENST00000531058.1_Silent_p.G188G	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGACCTGGGGAAAGCGCATG	0.473																																						ENST00000451739.2																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(700-702)ggG>ggA		HIV-1 Tat interactive protein 2, 30kDa							86.0	70.0	76.0					11																	20404724		2203	4300	6503	SO:0001819	synonymous_variant	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20404724G>A	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.702G>A	11.37:g.20404724G>A						HTATIP2_ENST00000419348.2_Silent_p.G268G|HTATIP2_ENST00000531058.1_Silent_p.G188G|HTATIP2_ENST00000421577.2_Silent_p.G234G|HTATIP2_ENST00000443524.2_Silent_p.G234G	p.G234G	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN			5	1143	+			234						Silent	SNP	ENST00000451739.2	37	c.702G>A	CCDS7852.1																																																																																				0.473	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		4	13	0	0	0	0.000248	0	4	13				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	38	0	0	0	0.003163	0	15	38				
GPR98	84059	broad.mit.edu	37	5	90084066	90084066	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr5:90084066A>G	ENST00000405460.2	+	68	13928	c.13832A>G	c.(13831-13833)aAa>aGa	p.K4611R	GPR98_ENST00000425867.2_Missense_Mutation_p.K272R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4611	Calx-beta 31. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCATTATTAAACTTCATCTT	0.348																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13831-13833)aAa>aGa		G protein-coupled receptor 98							75.0	75.0	75.0					5																	90084066		1831	4085	5916	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90084066A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13832A>G	5.37:g.90084066A>G	ENSP00000384582:p.Lys4611Arg					GPR98_ENST00000425867.2_Missense_Mutation_p.K272R	p.K4611R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	68	13928	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4611			Calx-beta 31.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13832A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	0.325	-0.959332	0.02267	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.26810	1.71;1.71	4.94	3.78	0.43462	.	0.453841	0.26680	N	0.023053	T	0.14830	0.0358	L	0.38531	1.155	0.20307	N	0.999916	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.26985	-1.0087	10	0.13470	T	0.59	.	3.1188	0.06383	0.5978:0.0:0.2268:0.1753	.	272;4611;272	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	R	4611;4611;272	ENSP00000384582:K4611R;ENSP00000392618:K272R	ENSP00000296619:K4611R	K	+	2	0	GPR98	90119822	1.000000	0.71417	0.033000	0.17914	0.027000	0.11550	3.926000	0.56491	0.846000	0.35142	-0.256000	0.11100	AAA		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		19	29	0	0	0	0.008871	0	19	29				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	5						3	5	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGCTGC			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:16327864_16327865insTGCTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCAGCA	c.(676-678)cac>caGCAGCAc	p.225_226insQQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(676-678)cct>cGCAGCAct		ataxin 1																																				SO:0001652	inframe_insertion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327864_16327865insTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.672_677dupGCAGCA	6.37:g.16327865_16327870dupTGCTGC	ENSP00000244769:p.Gln224_Gln225dup					ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RST	p.226_226P>RST	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1613_1614	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	226					Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	c.677_678insGCAGCA	CCDS34342.1																																																																																				0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		8	11						8	11	---	---	---	---
FAM35A	54537	broad.mit.edu	37	10	88911590	88911591	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr10:88911590_88911591delGT	ENST00000298784.1	+	3	593_594	c.479_480delGT	c.(478-480)ggtfs	p.G160fs	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Frame_Shift_Del_p.G160fs	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	160										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATATATGTGGTAAGAACTTTA	0.366																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(478-480)gfs		family with sequence similarity 35, member A																																				SO:0001589	frameshift_variant	54537							g.chr10:88911590_88911591delGT	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.479_480delGT	10.37:g.88911590_88911591delGT	ENSP00000298784:p.Gly160fs					FAM35A_ENST00000298784.1_Frame_Shift_Del_p.G160fs	p.G160fs			Q86V20	FA35A_HUMAN			3	593_594	+			160					O95885|Q9H991	Frame_Shift_Del	DEL	ENST00000298784.1	37	c.479_480delGT	CCDS7383.1																																																																																				0.366	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		28	78						28	78	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	97						7	97	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21146788	21146789	+	RNA	INS	-	-	T	rs34056823|rs76065274	byFrequency	TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr20:21146788_21146789insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							tgtattttGTATTTTTTTTTTT	0.401													|||unknown(HR)	2147	0.428714	0.3328	0.4222	5008	,	,		19058	0.4216		0.4423	False		,,,				2504	0.5562					ENST00000591761.1																			0																																																			0							g.chr20:21146788_21146789insT																													20.37:g.21146799_21146799dupT						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	INS	ENST00000591761.1	37																																																																																						0.401	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			3	5						3	5	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194931	28194933	+	In_Frame_Del	DEL	TGT	TGT	-	rs572936881|rs373314940|rs71194738	byFrequency	TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr22:28194931_28194933delTGT	ENST00000302326.4	-	1	2553_2555	c.1599_1601delACA	c.(1597-1602)caacag>cag	p.533_534QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgctgttgctgctgct	0.65			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		1	Insertion - In frame(1)	p.Q550_R551insQ(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1597-1602)cag>ca		meningioma (disrupted in balanced translocation) 1				87,42,3551|120,342,2806		22,1,42,7,27,1741|13,5,89,53,231,1243						0.1|-1.4	0.9|1.0		dbSNP_131|dbSNP_126	5|5	113,63,7304|314,526,5950		24,1,64,8,46,3597|13,4,284,58,406,2630	no|no	codingComplex|codingComplex	MN1|MN1	NM_002430.2|NM_002430.2		46,2,106,15,73,5338|26,9,373,111,637,3873	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1A2,A1R,A2A2,A2R,RR		2.3529,3.5054,2.733|12.3711,14.1371,12.9449				200,105,10855|434,868,8756				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194931_28194933delTGT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1599_1601delACA	22.37:g.28194931_28194933delTGT	ENSP00000304956:p.Gln550del						p.QQ549del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2553_2555	-			549			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1599_1601delACA	CCDS42998.1																																																																																				0.650	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		4	7						4	7	---	---	---	---
