#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
DSCR3	10311	broad.mit.edu	37	21	38593635	38593635	+	IGR	SNP	G	G	C			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr21:38593635G>C	ENST00000309117.6	-	0	3256				DSCR9_ENST00000454482.2_lincRNA|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000399000.3_5'Flank	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CTAGGCAGGCGCGCCCCGCCC	0.642																																						ENST00000454482.2																			0																				37.0	40.0	39.0					21																	38593635		2202	4298	6500	SO:0001628	intergenic_variant	0							g.chr21:38593635G>C	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659		21.37:g.38593635G>C								NR_026719.2						0	1242	+								B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	RNA	SNP	ENST00000309117.6	37		CCDS33553.1																																																																																				0.642	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			16	26	0	0	0	1	0	16	26				
MCMDC2	157777	broad.mit.edu	37	8	67786786	67786786	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:67786786C>G	ENST00000422365.2	+	4	421	c.250C>G	c.(250-252)Ctc>Gtc	p.L84V	MCMDC2_ENST00000492775.1_Missense_Mutation_p.L84V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L84V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L21V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L84V|MCMDC2_ENST00000469823.1_3'UTR	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	84					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TGTTAAGACTCTCTCATTAAT	0.294																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(250-252)Ctc>Gtc		minichromosome maintenance domain containing 2							81.0	76.0	77.0					8																	67786786		2203	4299	6502	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67786786C>G	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.250C>G	8.37:g.67786786C>G	ENSP00000413632:p.Leu84Val					MCMDC2_ENST00000541540.1_Missense_Mutation_p.L21V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L84V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L84V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L84V|MCMDC2_ENST00000469823.1_3'UTR	p.L84V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			4	421	+			84					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.250C>G	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918560	0.73098	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.32988	3.6;3.6;3.6;3.6;1.43	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.66939	2.045	0.51482	D	0.999922	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.83275	0.996;0.991;0.991;0.996	T	0.40040	-0.9584	10	0.28530	T	0.3	-5.4278	12.3172	0.54964	0.0:0.9102:0.0:0.0898	.	21;84;84;84	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	V	84;84;84;84;21	ENSP00000379837:L84V;ENSP00000413632:L84V;ENSP00000428037:L84V;ENSP00000317234:L84V;ENSP00000445629:L21V	ENSP00000317234:L84V	L	+	1	0	C8orf45	67949340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.452000	0.44961	2.423000	0.82170	0.650000	0.86243	CTC		0.294	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		4	36	0	0	0	1	0	4	36				
HSP90AA1	3320	broad.mit.edu	37	14	102551071	102551071	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr14:102551071C>G	ENST00000216281.8	-	5	1133	c.928G>C	c.(928-930)Gga>Cga	p.G310R	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.G432R|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.G131R	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	310					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TAGAATTCTCCGTACTCCTCA	0.418																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1294-1296)Gga>Cga		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						139.0	131.0	134.0					14																	102551071		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551071C>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.928G>C	14.37:g.102551071C>G	ENSP00000216281:p.Gly310Arg					HSP90AA1_ENST00000216281.8_Missense_Mutation_p.G310R|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.G131R	p.G432R	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			6	1575	-			310					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1294G>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	26.3	4.720186	0.89205	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09445	2.98;2.98;2.98	4.47	4.47	0.54385	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000001	T	0.38639	0.1048	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.998;0.997	T	0.46775	-0.9167	10	0.87932	D	0	-24.0844	17.1138	0.86683	0.0:1.0:0.0:0.0	.	131;432;310	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	R	310;432;131	ENSP00000216281:G310R;ENSP00000335153:G432R;ENSP00000396189:G131R	ENSP00000216281:G310R	G	-	1	0	HSP90AA1	101620824	1.000000	0.71417	0.435000	0.26784	0.938000	0.57974	7.592000	0.82676	2.200000	0.70718	0.655000	0.94253	GGA		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		57	89	0	0	0	1	0	57	89				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			4	152	0	0	0	1	0	4	152				
GRM8	2918	broad.mit.edu	37	7	126882812	126882812	+	Silent	SNP	G	G	A			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr7:126882812G>A	ENST00000339582.2	-	2	1255	c.447C>T	c.(445-447)ggC>ggT	p.G149G	GRM8_ENST00000444921.2_Silent_p.G149G|GRM8_ENST00000358373.3_Silent_p.G149G|GRM8_ENST00000405249.1_Silent_p.G149G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	149					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CACCTATGACGCCAGAAATCT	0.438										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(445-447)ggC>ggT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						160.0	133.0	142.0					7																	126882812		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882812G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.447C>T	7.37:g.126882812G>A		HNSCC(24;0.065)				GRM8_ENST00000405249.1_Silent_p.G149G|GRM8_ENST00000358373.3_Silent_p.G149G|GRM8_ENST00000444921.2_Silent_p.G149G	p.G149G			O00222	GRM8_HUMAN			2	1255	-		Prostate(267;0.186)	149					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.447C>T	CCDS5794.1																																																																																				0.438	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			32	56	0	0	0	1	0	32	56				
HIST1H4B	8366	broad.mit.edu	37	6	26027174	26027174	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr6:26027174C>A	ENST00000377364.3	-	1	306	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	103					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AAAGATTAACCGCCGAAGCCG	0.537											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(307-309)Ggt>Tgt		histone cluster 1, H4b							65.0	61.0	62.0					6																	26027174		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027174C>A	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.307G>T	6.37:g.26027174C>A	ENSP00000366581:p.Gly103Cys		OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.G103C	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	306	-			103					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.307G>T	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	17.11	3.304739	0.60305	.	.	ENSG00000124529	ENST00000377364	.	.	.	4.65	4.65	0.58169	.	0.000000	0.53938	U	0.000044	T	0.72011	0.3408	.	.	.	0.46167	D	0.998907	.	.	.	.	.	.	T	0.76318	-0.3003	6	0.87932	D	0	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	C	103	.	ENSP00000366581:G103C	G	-	1	0	HIST1H4B	26135153	1.000000	0.71417	0.762000	0.31397	0.006000	0.05464	7.393000	0.79851	2.506000	0.84524	0.563000	0.77884	GGT		0.537	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		21	35	1	0	4.96729e-08	1	5.37004e-08	21	35				
HERC2	8924	broad.mit.edu	37	15	28463681	28463681	+	Silent	SNP	G	G	A	rs376870436		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr15:28463681G>A	ENST00000261609.7	-	38	6090	c.5982C>T	c.(5980-5982)tgC>tgT	p.C1994C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.C1994C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGCAGTCCGCATAAAGTCT	0.517																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.C1994C(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(5980-5982)tgC>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		1,2789		0,1,1394	129.0	145.0	139.0		5982	0.3	1.0	15		139	0,4764		0,0,2382	no	coding-synonymous	HERC2	NM_004667.4		0,1,3776	AA,AG,GG		0.0,0.0358,0.0132		1994/4835	28463681	1,7553	1395	2382	3777	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28463681G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5982C>T	15.37:g.28463681G>A							p.C1994C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6090	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1994						Silent	SNP	ENST00000261609.7	37	c.5982C>T	CCDS10021.1																																																																																				0.517	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	145	0	0	0	1	0	4	145				
SBSN	374897	broad.mit.edu	37	19	36018434	36018434	+	Silent	SNP	C	C	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr19:36018434C>T	ENST00000452271.2	-	1	778	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	250	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGCCTGCCCCGCAGCATGGT	0.627																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(748-750)gcG>gcA		suprabasin							31.0	37.0	35.0					19																	36018434		692	1591	2283	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36018434C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.750G>A	19.37:g.36018434C>T						SBSN_ENST00000518157.1_Intron	p.A250A	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	778	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		123					A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.750G>A	CCDS54253.1																																																																																				0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		3	5	0	0	0	1	0	3	5				
IGHG2	3501	broad.mit.edu	37	14	106110891	106110891	+	RNA	SNP	C	C	G			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr14:106110891C>G	ENST00000390545.2	-	0	236							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGGTGTAGGTCTGGGTGCCGA	0.612																																						ENST00000390545.2																			0																				174.0	156.0	162.0					14																	106110891		2140	4253	6393			0							g.chr14:106110891C>G	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110891C>G														0	236	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.612	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		4	106	0	0	0	1	0	4	106				
TMEM174	134288	broad.mit.edu	37	5	72469163	72469163	+	Silent	SNP	C	C	T	rs140016650		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr5:72469163C>T	ENST00000296776.5	+	1	142	c.93C>T	c.(91-93)tcC>tcT	p.S31S	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	31						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TCCAGGTGTCCGATGATGACA	0.567																																						ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(91-93)tcC>tcT		transmembrane protein 174		C		0,4406		0,0,2203	164.0	155.0	158.0		93	-11.0	0.2	5	dbSNP_134	158	1,8599		0,1,4299	no	coding-synonymous	TMEM174	NM_153217.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		31/244	72469163	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	134288					integral to membrane		g.chr5:72469163C>T	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.93C>T	5.37:g.72469163C>T						TMEM174_ENST00000511737.1_3'UTR	p.S31S	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	142	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	31					B2RDA0|Q96N81	Silent	SNP	ENST00000296776.5	37	c.93C>T	CCDS4018.1																																																																																				0.567	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		63	93	0	0	0	1	0	63	93				
SCN3A	6328	broad.mit.edu	37	2	165952053	165952053	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr2:165952053T>C	ENST00000360093.3	-	25	4890	c.4399A>G	c.(4399-4401)Atc>Gtc	p.I1467V	SCN3A_ENST00000283254.7_Missense_Mutation_p.I1467V|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1418V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1467					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTATCTATGATGACACCAATG	0.333																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4399-4401)Atc>Gtc		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						95.0	93.0	94.0					2																	165952053		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952053T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4399A>G	2.37:g.165952053T>C	ENSP00000353206:p.Ile1467Val					SCN3A_ENST00000409101.3_Missense_Mutation_p.I1418V|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1467V	p.I1467V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			25	4890	-			1467					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4399A>G		.	.	.	.	.	.	.	.	.	.	T	17.53	3.413519	0.62511	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98876	-5.2;-5.2;-5.2	5.25	5.25	0.73442	.	0.070211	0.53938	D	0.000052	D	0.98934	0.9638	M	0.73430	2.235	0.80722	D	1	P;P;B	0.46327	0.876;0.876;0.02	D;D;B	0.64595	0.927;0.927;0.206	D	0.99690	1.1001	10	0.66056	D	0.02	.	15.619	0.76790	0.0:0.0:0.0:1.0	.	1418;1418;1467	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	V	1467;1467;1418	ENSP00000353206:I1467V;ENSP00000283254:I1467V;ENSP00000386726:I1418V	ENSP00000283254:I1467V	I	-	1	0	SCN3A	165660299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.333000	0.79357	0.482000	0.46254	ATC		0.333	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		29	46	0	0	0	1	0	29	46				
KDM7A	80853	broad.mit.edu	37	7	139790982	139790982	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr7:139790982C>T	ENST00000397560.2	-	20	2835	c.2738G>A	c.(2737-2739)cGt>cAt	p.R913H		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		913					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R913H(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTTTTTTGGACGTTTACCTAT	0.423																																						ENST00000397560.2																			1	Substitution - Missense(1)	p.R913H(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(2737-2739)cGt>cAt									130.0	125.0	127.0					7																	139790982		1906	4121	6027	SO:0001583	missense	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139790982C>T																												ENST00000397560.2:c.2738G>A	7.37:g.139790982C>T	ENSP00000380692:p.Arg913His						p.R913H	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			20	2835	-	Melanoma(164;0.0142)		913					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.2738G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677085	0.68042	.	.	ENSG00000006459	ENST00000397560	T	0.27890	1.64	5.66	4.78	0.61160	.	1.949490	0.02485	N	0.088909	T	0.62344	0.2420	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08617	-1.0713	10	0.87932	D	0	-0.2121	14.6992	0.69145	0.0:0.93:0.0:0.07	.	913	Q6ZMT4	KDM7_HUMAN	H	913	ENSP00000380692:R913H	ENSP00000380692:R913H	R	-	2	0	JHDM1D	139437451	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.306000	0.72810	1.390000	0.46547	0.591000	0.81541	CGT		0.423	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			18	25	0	0	0	1	0	18	25				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	50	0	0	0	1	0	4	50				
WASF1	8936	broad.mit.edu	37	6	110426721	110426721	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr6:110426721C>T	ENST00000392589.1	-	8	1438	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WASF1_ENST00000392588.1_Missense_Mutation_p.R201Q|WASF1_ENST00000392586.1_Missense_Mutation_p.R201Q|WASF1_ENST00000392587.2_Missense_Mutation_p.R201Q|WASF1_ENST00000359451.2_Missense_Mutation_p.R201Q	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	201					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CCATTCTCGCCGCCTGTCATG	0.448																																						ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(601-603)cGg>cAg		WAS protein family, member 1							95.0	89.0	91.0					6																	110426721		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110426721C>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.602G>A	6.37:g.110426721C>T	ENSP00000376368:p.Arg201Gln					WASF1_ENST00000392587.2_Missense_Mutation_p.R201Q|WASF1_ENST00000359451.2_Missense_Mutation_p.R201Q|WASF1_ENST00000392586.1_Missense_Mutation_p.R201Q|WASF1_ENST00000392588.1_Missense_Mutation_p.R201Q	p.R201Q	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	8	1438	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	201					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.602G>A	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968063	0.74131	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.54	5.54	0.83059	.	0.177091	0.48767	D	0.000161	T	0.25382	0.0617	L	0.32530	0.975	0.39854	D	0.973287	P	0.38745	0.645	B	0.28011	0.085	T	0.21621	-1.0240	10	0.59425	D	0.04	.	19.543	0.95281	0.0:1.0:0.0:0.0	.	201	Q92558	WASF1_HUMAN	Q	201	ENSP00000376365:R201Q;ENSP00000376366:R201Q;ENSP00000376368:R201Q;ENSP00000376367:R201Q;ENSP00000352425:R201Q	ENSP00000352425:R201Q	R	-	2	0	WASF1	110533414	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.230000	0.58632	2.607000	0.88179	0.586000	0.80456	CGG		0.448	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		25	51	0	0	0	1	0	25	51				
NSMAF	8439	broad.mit.edu	37	8	59508192	59508192	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:59508192C>T	ENST00000038176.3	-	22	2031	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	NSMAF_ENST00000427130.2_Missense_Mutation_p.E638K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	607					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTGCTTTCTTCGGTCAGGTCT	0.388																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1819-1821)Gaa>Aaa		neutral sphingomyelinase (N-SMase) activation associated factor							174.0	159.0	164.0					8																	59508192		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59508192C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1819G>A	8.37:g.59508192C>T	ENSP00000038176:p.Glu607Lys					NSMAF_ENST00000427130.2_Missense_Mutation_p.E638K	p.E607K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			22	2031	-		all_lung(136;0.174)|Lung NSC(129;0.2)	607					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1819G>A	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078496	0.94000	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.54279	0.59;0.58	5.95	5.95	0.96441	WD40 repeat-like-containing domain (1);	0.046390	0.85682	D	0.000000	T	0.72819	0.3508	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.89917	1.0;0.994	D;P	0.83275	0.996;0.492	T	0.69320	-0.5176	9	.	.	.	.	20.3921	0.98947	0.0:1.0:0.0:0.0	.	638;607	Q92636-2;Q92636	.;FAN_HUMAN	K	607;638	ENSP00000038176:E607K;ENSP00000411012:E638K	.	E	-	1	0	NSMAF	59670746	1.000000	0.71417	0.967000	0.41034	0.913000	0.54294	7.340000	0.79292	2.822000	0.97130	0.650000	0.86243	GAA		0.388	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		21	50	0	0	0	1	0	21	50				
CELSR3	1951	broad.mit.edu	37	3	48679866	48679866	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr3:48679866C>T	ENST00000164024.4	-	31	8870	c.8590G>A	c.(8590-8592)Gac>Aac	p.D2864N	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.D2869N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2864					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCAGTGTGGTCAGCGGCTGAG	0.622																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8605-8607)Gac>Aac		cadherin, EGF LAG seven-pass G-type receptor 3							69.0	59.0	62.0					3																	48679866		2202	4299	6501	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48679866C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8590G>A	3.37:g.48679866C>T	ENSP00000164024:p.Asp2864Asn					CELSR3_ENST00000164024.4_Missense_Mutation_p.D2864N	p.D2869N			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	32	8885	-			2864					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8605G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690931	0.48097	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70516	-0.49;-0.48	5.43	5.43	0.79202	.	.	.	.	.	T	0.64994	0.2649	L	0.44542	1.39	0.28031	N	0.934134	B;B;B	0.31318	0.003;0.001;0.319	B;B;B	0.30572	0.004;0.001;0.117	T	0.54906	-0.8223	9	0.13108	T	0.6	.	19.5952	0.95535	0.0:1.0:0.0:0.0	.	2869;2864;2962	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2864;2869	ENSP00000164024:D2864N;ENSP00000445694:D2869N	ENSP00000164024:D2864N	D	-	1	0	CELSR3	48654870	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.536000	0.45693	2.711000	0.92665	0.511000	0.50034	GAC		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	19	0	0	0	1	0	7	19				
GRM2	2912	broad.mit.edu	37	3	51746586	51746586	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr3:51746586G>A	ENST00000395052.3	+	3	782	c.548G>A	c.(547-549)cGc>cAc	p.R183H	GRM2_ENST00000442933.2_Missense_Mutation_p.R183H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	183					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R183H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TACTTTGCCCGCACAGTGCCT	0.542																																						ENST00000395052.3																			1	Substitution - Missense(1)	p.R183H(1)	breast(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(547-549)cGc>cAc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						171.0	151.0	158.0					3																	51746586		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746586G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.548G>A	3.37:g.51746586G>A	ENSP00000378492:p.Arg183His					GRM2_ENST00000442933.2_Missense_Mutation_p.R183H|GRM2_ENST00000475478.1_Intron	p.R183H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	782	+			183					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.548G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141549	0.94560	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.91295	-2.82;-2.82	5.04	5.04	0.67666	Extracellular ligand-binding receptor (1);	0.055708	0.64402	D	0.000001	D	0.96950	0.9004	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98074	1.0400	10	0.87932	D	0	.	18.7614	0.91853	0.0:0.0:1.0:0.0	.	183	Q14416	GRM2_HUMAN	H	183	ENSP00000378492:R183H;ENSP00000408906:R183H	ENSP00000296479:R183H	R	+	2	0	GRM2	51721626	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	9.869000	0.99810	2.524000	0.85096	0.655000	0.94253	CGC		0.542	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			5	136	0	0	0	1	0	5	136				
LIMCH1	22998	broad.mit.edu	37	4	41621368	41621368	+	Silent	SNP	G	G	A	rs139697872		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr4:41621368G>A	ENST00000313860.7	+	8	900	c.846G>A	c.(844-846)gcG>gcA	p.A282A	LIMCH1_ENST00000509638.1_Silent_p.A123A|LIMCH1_ENST00000512632.1_Silent_p.A282A|LIMCH1_ENST00000513024.1_Silent_p.A123A|LIMCH1_ENST00000512946.1_Silent_p.A282A|LIMCH1_ENST00000396595.3_Silent_p.A128A|LIMCH1_ENST00000508501.1_Silent_p.A282A|LIMCH1_ENST00000509454.1_Silent_p.A130A|LIMCH1_ENST00000511496.1_Silent_p.A123A|LIMCH1_ENST00000509277.1_Silent_p.A128A|LIMCH1_ENST00000381753.4_Silent_p.A128A|LIMCH1_ENST00000503057.1_Silent_p.A123A|LIMCH1_ENST00000514096.1_Silent_p.A135A|LIMCH1_ENST00000512820.1_Silent_p.A282A	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	282					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACGTCCCCGCGCCTCTGAGAA	0.577																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(844-846)gcG>gcA		LIM and calponin homology domains 1		G	,,,,	2,4404	4.2+/-10.8	0,2,2201	71.0	74.0	73.0		846,846,384,384,846	-6.7	0.4	4	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LIMCH1	NM_001112717.1,NM_001112718.1,NM_001112719.1,NM_001112720.1,NM_014988.2	,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,	282/1058,282/1057,128/903,128/891,282/1084	41621368	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621368G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.846G>A	4.37:g.41621368G>A						LIMCH1_ENST00000513024.1_Silent_p.A123A|LIMCH1_ENST00000509638.1_Silent_p.A123A|LIMCH1_ENST00000508501.1_Silent_p.A282A|LIMCH1_ENST00000503057.1_Silent_p.A123A|LIMCH1_ENST00000509277.1_Silent_p.A128A|LIMCH1_ENST00000509454.1_Silent_p.A130A|LIMCH1_ENST00000512820.1_Silent_p.A282A|LIMCH1_ENST00000514096.1_Silent_p.A135A|LIMCH1_ENST00000512632.1_Silent_p.A282A|LIMCH1_ENST00000381753.4_Silent_p.A128A|LIMCH1_ENST00000511496.1_Silent_p.A123A|LIMCH1_ENST00000512946.1_Silent_p.A282A|LIMCH1_ENST00000396595.3_Silent_p.A128A	p.A282A	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			8	900	+			282					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.846G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	5.786	0.329387	0.10956	4.54E-4	0.0	ENSG00000064042	ENST00000508466	.	.	.	5.74	-6.73	0.01749	.	.	.	.	.	T	0.33962	0.0881	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40961	-0.9535	4	.	.	.	-7.8941	0.4675	0.00526	0.274:0.1757:0.2956:0.2546	.	.	.	.	H	117	.	.	R	+	2	0	LIMCH1	41316125	0.024000	0.19004	0.433000	0.26760	0.350000	0.29205	-0.920000	0.04013	-1.151000	0.02836	-0.244000	0.11960	CGC		0.577	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		21	43	0	0	0	1	0	21	43				
MIR99AHG	388815	broad.mit.edu	37	21	17566914	17566914	+	lincRNA	SNP	A	A	G			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr21:17566914A>G	ENST00000458468.1	+	0	409					NR_027790.1																						GGGGCAGAAAATAGCACACTT	0.403																																						ENST00000458468.1																			0																				84.0	93.0	90.0					21																	17566914		2203	4300	6503			0							g.chr21:17566914A>G																													21.37:g.17566914A>G								NR_027790.1						0	409	+									RNA	SNP	ENST00000458468.1	37																																																																																						0.403	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			14	32	0	0	0	1	0	14	32				
UTP20	27340	broad.mit.edu	37	12	101757394	101757394	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr12:101757394A>G	ENST00000261637.4	+	45	6005	c.5831A>G	c.(5830-5832)aAg>aGg	p.K1944R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1944					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTGAAGAGAAGGAAGTAAAG	0.393																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(5830-5832)aAg>aGg		UTP20, small subunit (SSU) processome component, homolog (yeast)							122.0	111.0	115.0					12																	101757394		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101757394A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5831A>G	12.37:g.101757394A>G	ENSP00000261637:p.Lys1944Arg						p.K1944R	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			45	6005	+			1944					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5831A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962846	0.92791	.	.	ENSG00000120800	ENST00000261637	T	0.50277	0.75	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.58510	1.815	0.80722	D	1	D	0.60575	0.988	P	0.52309	0.695	T	0.53479	-0.8433	10	0.32370	T	0.25	-23.9861	16.3662	0.83325	1.0:0.0:0.0:0.0	.	1944	O75691	UTP20_HUMAN	R	1944	ENSP00000261637:K1944R	ENSP00000261637:K1944R	K	+	2	0	UTP20	100281525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.155000	0.94700	2.274000	0.75844	0.533000	0.62120	AAG		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		18	34	0	0	0	1	0	18	34				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	54	0	0	0	1	0	4	54				
ZFHX4	79776	broad.mit.edu	37	8	77767702	77767702	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:77767702C>T	ENST00000521891.2	+	10	8993	c.8545C>T	c.(8545-8547)Cca>Tca	p.P2849S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2804S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2823S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2804S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGATACTCTGCCAAAACCTGC	0.488										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8545-8547)Cca>Tca		zinc finger homeobox 4							70.0	72.0	72.0					8																	77767702		1941	4141	6082	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767702C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8545C>T	8.37:g.77767702C>T	ENSP00000430497:p.Pro2849Ser	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2804S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2804S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2823S	p.P2849S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8993	+			2804					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8545C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	2.569	-0.299972	0.05532	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.41065	1.01;1.05;1.02;1.01	5.25	5.25	0.73442	.	0.745176	0.11366	U	0.571359	T	0.29652	0.0740	N	0.19112	0.55	0.27443	N	0.953663	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.002;0.004;0.007	T	0.06463	-1.0825	10	0.09590	T	0.72	.	15.4471	0.75238	0.139:0.861:0.0:0.0	.	2804;2804;2849	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2849;2833;2804;2804;2823	ENSP00000430497:P2849S;ENSP00000399605:P2804S;ENSP00000050961:P2804S;ENSP00000430848:P2823S	ENSP00000050961:P2804S	P	+	1	0	ZFHX4	77930257	0.983000	0.35010	0.766000	0.31476	0.022000	0.10575	1.005000	0.29834	2.733000	0.93635	0.561000	0.74099	CCA		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	21	0	0	0	1	0	13	21				
WDR7	23335	broad.mit.edu	37	18	54339808	54339808	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr18:54339808G>T	ENST00000254442.3	+	2	273	c.62G>T	c.(61-63)tGc>tTc	p.C21F	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.C21F	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	21					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCCACACATTGCATCTCAGCC	0.433																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(61-63)tGc>tTc		WD repeat domain 7							96.0	83.0	88.0					18																	54339808		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54339808G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.62G>T	18.37:g.54339808G>T	ENSP00000254442:p.Cys21Phe					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.C21F	p.C21F	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	2	273	+			21					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.62G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369801	0.82573	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.58652	0.32;0.32	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	L	0.31294	0.92	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.87578	0.899;0.998	T	0.55717	-0.8097	10	0.10111	T	0.7	.	19.4836	0.95020	0.0:0.0:1.0:0.0	.	21;21	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	F	21	ENSP00000254442:C21F;ENSP00000350187:C21F	ENSP00000254442:C21F	C	+	2	0	WDR7	52490806	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	7.308000	0.78929	2.700000	0.92200	0.563000	0.77884	TGC		0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			25	64	1	0	3.17567e-06	1	3.34281e-06	25	64				
AEBP1	165	broad.mit.edu	37	7	44146386	44146386	+	Silent	SNP	G	G	A	rs144974496		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr7:44146386G>A	ENST00000223357.3	+	2	800	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	165	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCCCCGTCAGGGAAGA	0.652																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(493-495)ccG>ccA		AE binding protein 1		G		0,4388		0,0,2194	49.0	54.0	52.0		495	-1.8	0.0	7	dbSNP_134	52	1,8591		0,1,4295	no	coding-synonymous	AEBP1	NM_001129.3		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		165/1159	44146386	1,12979	2194	4296	6490	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44146386G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.495G>A	7.37:g.44146386G>A							p.P165P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			2	800	+			165			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.495G>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	5.468	0.271352	0.10349	0.0	1.16E-4	ENSG00000106624	ENST00000455443	.	.	.	4.33	-1.83	0.07833	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	2.0383	1.4654	0.02405	0.2831:0.1443:0.4262:0.1463	.	.	.	.	I	123	.	.	V	+	1	0	AEBP1	44112911	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.552000	0.06020	-0.223000	0.09943	0.462000	0.41574	GTC		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	7	0	0	0	1	0	8	7				
UIMC1	51720	broad.mit.edu	37	5	176395642	176395642	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr5:176395642T>C	ENST00000377227.4	-	6	1246	c.1114A>G	c.(1114-1116)Aaa>Gaa	p.K372E	UIMC1_ENST00000377219.2_Missense_Mutation_p.K372E|UIMC1_ENST00000511320.1_Missense_Mutation_p.K372E|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Intron			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	372	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTTGGTTTTTGAGTGCCAG	0.443																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1114-1116)Aaa>Gaa		ubiquitin interaction motif containing 1							147.0	142.0	144.0					5																	176395642		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176395642T>C	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1114A>G	5.37:g.176395642T>C	ENSP00000366434:p.Lys372Glu					UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Missense_Mutation_p.K372E|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.K372E	p.K372E	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1280	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	372			AIR.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.1114A>G	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.267613	0.40095	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000377220	T;T;T	0.30448	1.53;1.53;1.53	5.74	-1.01	0.10169	.	0.389995	0.28098	N	0.016618	T	0.09069	0.0224	N	0.08118	0	0.09310	N	0.999999	B;B	0.12630	0.006;0.004	B;B	0.14578	0.011;0.007	T	0.23833	-1.0177	10	0.06236	T	0.91	.	1.8066	0.03082	0.1239:0.2815:0.1282:0.4664	.	372;294	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	E	372;372;372;294	ENSP00000366434:K372E;ENSP00000366425:K372E;ENSP00000421926:K372E	ENSP00000366425:K372E	K	-	1	0	UIMC1	176328248	0.891000	0.30450	0.982000	0.44146	0.990000	0.78478	-0.200000	0.09478	-0.085000	0.12573	0.454000	0.30748	AAA		0.443	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		54	85	0	0	0	1	0	54	85				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	86	0	0	0	1	0	6	86				
FOXG1	2290	broad.mit.edu	37	14	29237877	29237877	+	Silent	SNP	G	G	A			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr14:29237877G>A	ENST00000313071.4	+	1	1591	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	FOXG1_ENST00000382535.3_Silent_p.T464T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	464					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CAAGTTTTACGACGGGACTGT	0.547																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1390-1392)acG>acA		forkhead box G1							85.0	85.0	85.0					14																	29237877		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237877G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1392G>A	14.37:g.29237877G>A						FOXG1_ENST00000313071.4_Silent_p.T464T	p.T464T			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1761	+			464					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.1392G>A	CCDS9636.1																																																																																				0.547	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			52	69	0	0	0	1	0	52	69				
SNTB1	6641	broad.mit.edu	37	8	121823566	121823566	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:121823566T>C	ENST00000395601.3	-	2	932	c.518A>G	c.(517-519)cAc>cGc	p.H173R	RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000517992.1_Missense_Mutation_p.H173R|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	173	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGCCTCGTCGTGGGTGGCGTC	0.692																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(517-519)cAc>cGc		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							68.0	72.0	71.0					8																	121823566		2202	4298	6500	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823566T>C	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.518A>G	8.37:g.121823566T>C	ENSP00000378965:p.His173Arg					SNTB1_ENST00000517992.1_Missense_Mutation_p.H173R|SNTB1_ENST00000519177.1_5'UTR	p.H173R	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	932	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		173			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.518A>G	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914985	0.92178	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.56444	0.46;0.46	4.84	4.84	0.62591	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.77343	-0.2623	10	0.87932	D	0	.	14.7111	0.69232	0.0:0.0:0.0:1.0	.	173;173	Q13884;Q13884-2	SNTB1_HUMAN;.	R	173	ENSP00000378965:H173R;ENSP00000431124:H173R	ENSP00000378965:H173R	H	-	2	0	SNTB1	121892747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.863000	0.87023	1.927000	0.55829	0.459000	0.35465	CAC		0.692	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		36	51	0	0	0	1	0	36	51				
MYPN	84665	broad.mit.edu	37	10	69961683	69961683	+	Silent	SNP	C	C	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr10:69961683C>T	ENST00000358913.5	+	18	4079	c.3591C>T	c.(3589-3591)ggC>ggT	p.G1197G	MYPN_ENST00000354393.2_Silent_p.G922G|MYPN_ENST00000540630.1_Silent_p.G1197G	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1197	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCGTGATAGGCATGCCCCCAC	0.562																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3589-3591)ggC>ggT		myopalladin							146.0	130.0	136.0					10																	69961683		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69961683C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3591C>T	10.37:g.69961683C>T						MYPN_ENST00000354393.2_Silent_p.G922G|MYPN_ENST00000540630.1_Silent_p.G1197G	p.G1197G	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			18	4079	+			1197			Ig-like 5.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3591C>T	CCDS7275.1																																																																																				0.562	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		36	47	0	0	0	1	0	36	47				
TTN	7273	broad.mit.edu	37	2	179580332	179580332	+	Silent	SNP	C	C	T	rs369099681		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr2:179580332C>T	ENST00000591111.1	-	87	25082	c.24858G>A	c.(24856-24858)tcG>tcA	p.S8286S	TTN_ENST00000589042.1_Silent_p.S8603S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.S7359S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12464	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)			GCACAGCCACCGAGTCAACGA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19816	0.0		0.0	False		,,,				2504	0.0					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.(25807-25809)tcG>tcA		titin		C	,,,	1,4123		0,1,2061	88.0	90.0	89.0		,22077,,	-10.7	0.0	2		89	0,8428		0,0,4214	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6275	TT,TC,CC		0.0,0.0242,0.0080	,,,	,7359/33424,,	179580332	1,12551	2062	4214	6276	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179580332C>T	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.24858G>A	2.37:g.179580332C>T						TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7359S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8286S|TTN-AS1_ENST00000585451.1_RNA	p.S8603S	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	26033	-			8286			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	Silent	SNP	ENST00000591111.1	37	c.25809G>A																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	28	0	0	0	1	0	17	28				
MUC5AC	4586	broad.mit.edu	37	11	1159382	1159382	+	Silent	SNP	C	C	T			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr11:1159382C>T	ENST00000356191.2	+	16	1350	c.1350C>T	c.(1348-1350)caC>caT	p.H450H				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	453	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		ACACGGTGCACGGCGACTGCA	0.662																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1348-1350)caC>caT		mucin 5AC, oligomeric mucus/gel-forming							130.0	130.0	130.0					11																	1159382		875	1990	2865	SO:0001819	synonymous_variant	4586							g.chr11:1159382C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1350C>T	11.37:g.1159382C>T							p.H450H						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	16	1350	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.1350C>T																																																																																					0.662	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		31	48	0	0	0	1	0	31	48				
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753|rs2272754	byFrequency	TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2635-2640)tca>tc		zinc finger CCCH-type containing 3																																				SO:0001651	inframe_deletion	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522387_144522389delGAG	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637_2639delCTC	8.37:g.144522396_144522398delGAG	ENSP00000262577:p.Ser881del						p.SS879del	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2668_2670	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		879			Poly-Ser.		Q14163|Q8N4E2|Q9BUS4	In_Frame_Del	DEL	ENST00000262577.5	37	c.2637_2639delCTC	CCDS6402.1																																																																																				0.655	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		2	4						2	4	---	---	---	---
SETD8	387893	broad.mit.edu	37	12	123879653	123879653	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr12:123879653delA	ENST00000402868.3	+	4	775	c.349delA	c.(349-351)aaafs	p.K117fs	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Frame_Shift_Del_p.K117fs			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	158					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACAGAAGATCAAAGACGCCAG	0.502																																						ENST00000402868.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13						c.(349-351)aafs		SET domain containing (lysine methyltransferase) 8							42.0	42.0	42.0					12																	123879653		2202	4299	6501	SO:0001589	frameshift_variant	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123879653delA	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.349delA	12.37:g.123879653delA	ENSP00000384629:p.Lys117fs					SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Frame_Shift_Del_p.K117fs	p.K117fs			Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	4	775	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		158					A8K9D0|Q86W83|Q8TD09	Frame_Shift_Del	DEL	ENST00000402868.3	37	c.349delA	CCDS9247.1																																																																																				0.502	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		2	4						2	4	---	---	---	---
CORO2B	10391	broad.mit.edu	37	15	68937526	68937541	+	Frame_Shift_Del	DEL	TCCAAGTTCCGGAATG	TCCAAGTTCCGGAATG	-	rs372843642		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr15:68937526_68937541delTCCAAGTTCCGGAATG	ENST00000566799.1	+	2	72_87	c.43_58delTCCAAGTTCCGGAATG	c.(43-60)tccaagttccggaatgtcfs	p.SKFRNV15fs	CORO2B_ENST00000543950.1_Frame_Shift_Del_p.SKFRNV10fs|CORO2B_ENST00000540068.1_Frame_Shift_Del_p.SKFRNV10fs|CORO2B_ENST00000261861.5_Frame_Shift_Del_p.SKFRNV10fs			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	15					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.R18Q(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ATACCGTAGCTCCAAGTTCCGGAATGTCTACGGGAA	0.611																																						ENST00000543950.1																			1	Substitution - Missense(1)	p.R18Q(1)	large_intestine(1)	kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(28-45)tcfs		coronin, actin binding protein, 2B																																				SO:0001589	frameshift_variant	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:68937526_68937541delTCCAAGTTCCGGAATG	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.43_58delTCCAAGTTCCGGAATG	15.37:g.68937526_68937541delTCCAAGTTCCGGAATG	ENSP00000454783:p.Ser15fs					CORO2B_ENST00000540068.1_Frame_Shift_Del_p.SKFRNV10fs|CORO2B_ENST00000566799.1_Frame_Shift_Del_p.SKFRNV15fs|CORO2B_ENST00000261861.5_Frame_Shift_Del_p.SKFRNV10fs	p.SKFRNV10fs	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			2	382_397	+			15					A8K0W3|O94767|Q8TAN1	Frame_Shift_Del	DEL	ENST00000566799.1	37	c.28_43delTCCAAGTTCCGGAATG	CCDS10229.2																																																																																				0.611	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		5	9						5	9	---	---	---	---
ABCC6P1	653190	broad.mit.edu	37	16	18593648	18593649	+	RNA	INS	-	-	A	rs534869505	byFrequency	TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr16:18593648_18593649insA	ENST00000546162.2	+	0	805					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		accctgtctcgaaaaaaaaaaa	0.505																																						ENST00000546162.2																			0																																																			0							g.chr16:18593648_18593649insA	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18593659_18593659dupA								NR_003569.1						0	805	+									RNA	INS	ENST00000546162.2	37																																																																																						0.505	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		3	5						3	5	---	---	---	---
