#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
ZAN	7455	broad.mit.edu	37	7	100349994	100349994	+	RNA	SNP	C	C	A	rs221829		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:100349994C>A	ENST00000348028.3	+	0	2431				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P756T(8)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACC	0.517																																						ENST00000542585.1																			8	Substitution - Missense(8)	p.P756T(8)	endometrium(4)|lung(2)|skin(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							119.0	132.0	128.0					7																	100349994		1818	4059	5877			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349994C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349994C>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2414	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	6.303	0.423974	0.11928	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.60040	0.43;0.22;0.43	4.07	-8.15	0.01065	.	.	.	.	.	T	0.19046	0.0457	N	0.01140	-0.99	0.19575	N	0.999965	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14062	-1.0486	9	0.26408	T	0.33	.	3.2868	0.06935	0.2668:0.4393:0.0778:0.2161	rs221829;rs2406149;rs221829	756;756	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	756	ENSP00000445943:P756T;ENSP00000445091:P756T;ENSP00000444427:P756T	ENSP00000423579:P756T	P	+	1	0	ZAN	100187930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.034000	0.03567	-1.458000	0.01916	-0.996000	0.02517	CCA		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	152	1	0	0.000157383	1	0.000164647	6	152				
DST	667	broad.mit.edu	37	6	56373517	56373517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:56373517C>T	ENST00000361203.3	-	70	18096	c.18089G>A	c.(18088-18090)tGg>tAg	p.W6030*	DST_ENST00000370769.4_Nonsense_Mutation_p.W6141*|DST_ENST00000446842.2_Nonsense_Mutation_p.W5815*|DST_ENST00000370788.2_Nonsense_Mutation_p.W3944*|DST_ENST00000244364.6_Nonsense_Mutation_p.W3727*|DST_ENST00000370754.5_Nonsense_Mutation_p.W6319*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.W4053*|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6026					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTTCTCCCAAATGAAAAC	0.438																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(18955-18957)tGg>tAg		dystonin							134.0	135.0	135.0					6																	56373517		1933	4140	6073	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56373517C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18089G>A	6.37:g.56373517C>T	ENSP00000354508:p.Trp6030*					DST_ENST00000370788.2_Nonsense_Mutation_p.W3944*|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.W6030*|DST_ENST00000446842.2_Nonsense_Mutation_p.W5815*|DST_ENST00000370769.4_Nonsense_Mutation_p.W6141*|DST_ENST00000421834.2_Nonsense_Mutation_p.W4053*|DST_ENST00000244364.6_Nonsense_Mutation_p.W3727*	p.W6319*			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		75	18955	-	Lung NSC(77;0.103)		6139					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.18956G>A		.	.	.	.	.	.	.	.	.	.	C	57	30.121814	0.99977	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	.	.	.	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	X	3727;6319;6141;4053;5815;3944;6030;143	.	ENSP00000244364:W3727X	W	-	2	0	DST	56481476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.765000	0.95021	0.557000	0.71058	TGG		0.438	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		25	67	0	0	0	1	0	25	67				
MIB2	142678	broad.mit.edu	37	1	1560431	1560431	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:1560431G>A	ENST00000357210.4	+	6	977	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	MIB2_ENST00000504599.1_Missense_Mutation_p.R210Q|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378710.3_Missense_Mutation_p.R254Q|MIB2_ENST00000355826.5_Missense_Mutation_p.R297Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R196Q|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000360522.4_Missense_Mutation_p.R254Q|MIB2_ENST00000505820.2_Missense_Mutation_p.R311Q|MIB2_ENST00000520777.1_Missense_Mutation_p.R311Q	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	254	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGACAGGCCGGAGTGTGGCC	0.657																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(760-762)cGg>cAg		mindbomb E3 ubiquitin protein ligase 2							60.0	71.0	67.0					1																	1560431		2200	4298	6498	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1560431G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.761G>A	1.37:g.1560431G>A	ENSP00000349741:p.Arg254Gln					MIB2_ENST00000520777.1_Missense_Mutation_p.R311Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R196Q|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000505820.2_Missense_Mutation_p.R311Q|MIB2_ENST00000360522.4_Missense_Mutation_p.R254Q|MIB2_ENST00000355826.5_Missense_Mutation_p.R297Q|MIB2_ENST00000504599.1_Missense_Mutation_p.R210Q|MIB2_ENST00000378710.3_Missense_Mutation_p.R254Q|MIB2_ENST00000518681.1_Intron	p.R254Q	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	977	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	254			MIB/HERC2 2.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.761G>A		.	.	.	.	.	.	.	.	.	.	G	23.1	4.374158	0.82573	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000505820;ENST00000504599;ENST00000378708	T;T;T;T;T;T;T;T	0.38722	1.12;1.15;1.16;1.16;1.14;1.12;1.15;1.18	5.01	5.01	0.66863	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.71674	0.992;0.998;0.996;0.994	D;P;P;D	0.66979	0.94;0.88;0.809;0.948	T	0.64533	-0.6385	10	0.52906	T	0.07	-0.3799	17.2944	0.87166	0.0:0.0:1.0:0.0	.	254;311;240;254	Q96AX9-5;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;MIB2_HUMAN	Q	311;254;254;254;297;311;210;196	ENSP00000428660:R311Q;ENSP00000349741:R254Q;ENSP00000353713:R254Q;ENSP00000367982:R254Q;ENSP00000348081:R297Q;ENSP00000426103:R311Q;ENSP00000426128:R210Q;ENSP00000367980:R196Q	ENSP00000348081:R297Q	R	+	2	0	MIB2	1550294	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.379000	0.97198	2.321000	0.78463	0.462000	0.41574	CGG		0.657	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		4	140	0	0	0	1	0	4	140				
ATF4	468	broad.mit.edu	37	22	39917543	39917543	+	Silent	SNP	A	A	G	rs200926784		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:39917543A>G	ENST00000337304.2	+	1	975	c.93A>G	c.(91-93)ctA>ctG	p.L31L	ATF4_ENST00000396680.1_Silent_p.L31L|ATF4_ENST00000404241.2_Silent_p.L31L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	31					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AAGAAAGCCTAGGTCTCTTAG	0.572																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(91-93)ctA>ctG		activating transcription factor 4							65.0	64.0	64.0					22																	39917543		2203	4300	6503	SO:0001819	synonymous_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917543A>G	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.93A>G	22.37:g.39917543A>G						ATF4_ENST00000404241.2_Silent_p.L31L|ATF4_ENST00000396680.1_Silent_p.L31L	p.L31L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			1	975	+	Melanoma(58;0.04)		31					Q9UH31	Silent	SNP	ENST00000337304.2	37	c.93A>G	CCDS13996.1																																																																																				0.572	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		32	97	0	0	0	1	0	32	97				
CBX2	84733	broad.mit.edu	37	17	77758020	77758020	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:77758020A>G	ENST00000310942.4	+	5	882	c.778A>G	c.(778-780)Atg>Gtg	p.M260V		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	260					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGTGCACTACATGAACCGGAT	0.657																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(778-780)Atg>Gtg		chromobox homolog 2							31.0	35.0	33.0					17																	77758020		2202	4297	6499	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758020A>G	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.778A>G	17.37:g.77758020A>G	ENSP00000308750:p.Met260Val						p.M260V	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	882	+			260					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.778A>G	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.774418	0.31411	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.0	5.0	0.66597	.	0.955008	0.08679	N	0.909727	T	0.41143	0.1146	N	0.19112	0.55	0.80722	D	1	P	0.43788	0.817	B	0.38500	0.275	T	0.20472	-1.0274	9	0.31617	T	0.26	-5.4135	14.8583	0.70359	1.0:0.0:0.0:0.0	.	260	Q14781	CBX2_HUMAN	V	260	.	ENSP00000308750:M260V	M	+	1	0	CBX2	75372615	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	4.372000	0.59530	2.099000	0.63709	0.533000	0.62120	ATG		0.657	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		5	108	0	0	0	1	0	5	108				
IGKV1-12	28940	broad.mit.edu	37	2	89339991	89339991	+	RNA	SNP	G	G	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:89339991G>C	ENST00000480492.1	-	0	127									immunoglobulin kappa variable 1-12																		ATGGAGACTGGGTCATCTGGA	0.463																																						ENST00000480492.1																			0																				223.0	174.0	190.0					2																	89339991		1994	4157	6151			0							g.chr2:89339991G>C	V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89339991G>C														0	127	-									RNA	SNP	ENST00000480492.1	37																																																																																						0.463	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323392.1	NG_000834		51	363	0	0	0	1	0	51	363				
RYR1	6261	broad.mit.edu	37	19	38960079	38960079	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:38960079C>T	ENST00000359596.3	+	27	3691	c.3691C>T	c.(3691-3693)Cgc>Tgc	p.R1231C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1231C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1231C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1231	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAACATGCAGCGCCCAGTCAC	0.577																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3691-3693)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						146.0	135.0	139.0					19																	38960079		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38960079C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3691C>T	19.37:g.38960079C>T	ENSP00000352608:p.Arg1231Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.R1231C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1231C	p.R1231C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		27	3822	+	all_cancers(60;7.91e-06)		1231			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3691C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	13.99	2.401958	0.42613	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97209	-4.29;-4.29;-4.29	3.48	3.48	0.39840	.	0.000000	0.56097	U	0.000025	D	0.97732	0.9256	M	0.69523	2.12	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	D	0.97750	1.0214	10	0.87932	D	0	.	10.3225	0.43775	0.1971:0.8029:0.0:0.0	.	1231;1231	P21817-2;P21817	.;RYR1_HUMAN	C	1231	ENSP00000352608:R1231C;ENSP00000347667:R1231C;ENSP00000354254:R1231C	ENSP00000347667:R1231C	R	+	1	0	RYR1	43651919	0.999000	0.42202	0.998000	0.56505	0.944000	0.59088	0.793000	0.26944	1.816000	0.52996	0.434000	0.28630	CGC		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	216	0	0	0	1	0	8	216				
GPRIN2	9721	broad.mit.edu	37	10	47000209	47000209	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:47000209C>T	ENST00000374317.1	+	3	1602	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	GPRIN2_ENST00000374314.4_Silent_p.S443S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	443										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCATGCAGTCCCTGCGGCGCC	0.706																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1327-1329)tcC>tcT		G protein regulated inducer of neurite outgrowth 2							13.0	13.0	13.0					10																	47000209		2159	4204	6363	SO:0001819	synonymous_variant	9721							g.chr10:47000209C>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1329C>T	10.37:g.47000209C>T						GPRIN2_ENST00000374317.1_Silent_p.S443S	p.S443S			O60269	GRIN2_HUMAN			1	2284	+			443					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1329C>T	CCDS31192.1																																																																																				0.706	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		3	20	0	0	0	1	0	3	20				
VAV1	7409	broad.mit.edu	37	19	6772975	6772975	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:6772975C>A	ENST00000602142.1	+	1	239	c.157C>A	c.(157-159)Cat>Aat	p.H53N	VAV1_ENST00000596764.1_Missense_Mutation_p.H53N|VAV1_ENST00000304076.2_Missense_Mutation_p.H53N|VAV1_ENST00000539284.1_De_novo_Start_OutOfFrame	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	53	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCTACCCCATGCCATCAA	0.657																																						ENST00000539284.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62								vav 1 guanine nucleotide exchange factor							155.0	115.0	128.0					19																	6772975		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6772975C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.157C>A	19.37:g.6772975C>A	ENSP00000472929:p.His53Asn					VAV1_ENST00000304076.2_Missense_Mutation_p.H53N|VAV1_ENST00000602142.1_Missense_Mutation_p.H53N|VAV1_ENST00000596764.1_Missense_Mutation_p.H53N				P15498	VAV_HUMAN			0	7	+								B4DVK9|M0QXX6|Q15860	Translation_Start_Site	SNP	ENST00000602142.1	37		CCDS12174.1	.	.	.	.	.	.	.	.	.	.	c	5.464	0.270637	0.10349	.	.	ENSG00000141968	ENST00000304076	T	0.58210	0.35	4.18	4.18	0.49190	Calponin homology domain (5);	0.289946	0.27345	U	0.019786	T	0.21550	0.0519	N	0.01464	-0.85	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.001;0.006	T	0.11348	-1.0591	10	0.11485	T	0.65	.	9.4482	0.38710	0.2121:0.7879:0.0:0.0	.	53;53	B2R8B5;P15498	.;VAV_HUMAN	N	53	ENSP00000302269:H53N	ENSP00000302269:H53N	H	+	1	0	VAV1	6723975	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	4.346000	0.59367	1.870000	0.54199	0.306000	0.20318	CAT		0.657	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			5	161	1	0	8.12818e-05	1	8.6362e-05	5	161				
OR52E8	390079	broad.mit.edu	37	11	5878305	5878305	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:5878305A>G	ENST00000537935.1	-	1	659	c.628T>C	c.(628-630)Tct>Cct	p.S210P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAAGAGAGATATGTTGCCA	0.478																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(628-630)Tct>Cct		olfactory receptor, family 52, subfamily E, member 8							82.0	90.0	87.0					11																	5878305		2146	4296	6442	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878305A>G	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.628T>C	11.37:g.5878305A>G	ENSP00000444054:p.Ser210Pro					TRIM5_ENST00000380027.1_Intron	p.S210P	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	659	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	210					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.628T>C	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.273519	0.40194	.	.	ENSG00000183269	ENST00000537935	T	0.00179	8.61	4.53	0.365	0.16131	GPCR, rhodopsin-like superfamily (1);	0.385414	0.22296	N	0.061938	T	0.00210	0.0006	M	0.72479	2.2	0.09310	N	1	B	0.18863	0.031	B	0.23852	0.049	T	0.37126	-0.9719	10	0.48119	T	0.1	.	7.4283	0.27113	0.4595:0.415:0.0:0.1255	.	210	Q6IFG1	O52E8_HUMAN	P	210	ENSP00000444054:S210P	ENSP00000444054:S210P	S	-	1	0	OR52E8	5834881	0.000000	0.05858	0.002000	0.10522	0.693000	0.40251	-2.365000	0.01079	-0.041000	0.13558	0.448000	0.29417	TCT		0.478	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		5	106	0	0	0	1	0	5	106				
PCDHB16	57717	broad.mit.edu	37	5	140563340	140563340	+	Silent	SNP	C	C	A	rs376322288		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:140563340C>A	ENST00000361016.2	+	1	2361	c.1206C>A	c.(1204-1206)acC>acA	p.T402T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTTTACACCTTGGTAACGG	0.473																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1204-1206)acC>acA									86.0	93.0	90.0					5																	140563340		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563340C>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1206C>A	5.37:g.140563340C>A							p.T402T	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2361	+			402			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1206C>A	CCDS4251.1																																																																																				0.473	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		21	91	1	0	8.10497e-08	1	9.03505e-08	21	91				
KLB	152831	broad.mit.edu	37	4	39448817	39448817	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448817A>T	ENST00000257408.4	+	4	2568	c.2471A>T	c.(2470-2472)aAc>aTc	p.N824I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGCGCGCTCAACCACTTCACC	0.657																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2470-2472)aAc>aTc		klotho beta							49.0	44.0	46.0					4																	39448817		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448817A>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2471A>T	4.37:g.39448817A>T	ENSP00000257408:p.Asn824Ile						p.N824I	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2568	+			824			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2471A>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.664938	0.67700	.	.	ENSG00000134962	ENST00000257408	T	0.39592	1.07	4.75	4.75	0.60458	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	M	0.88979	2.995	0.47819	D	0.999523	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76774	-0.2835	10	0.87932	D	0	-29.7844	14.2597	0.66076	1.0:0.0:0.0:0.0	.	815;824	B7ZL50;Q86Z14	.;KLOTB_HUMAN	I	824	ENSP00000257408:N824I	ENSP00000257408:N824I	N	+	2	0	KLB	39125212	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.375000	0.79646	1.774000	0.52232	0.260000	0.18958	AAC		0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		9	89	0	0	0	1	0	9	89				
LILRB1	10859	broad.mit.edu	37	19	55148088	55148088	+	Silent	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:55148088G>A	ENST00000396331.1	+	15	2148	c.1791G>A	c.(1789-1791)agG>agA	p.R597R	LILRB1_ENST00000427581.2_Silent_p.R648R|LILRB1_ENST00000396332.4_Silent_p.R598R|LILRB1_ENST00000434867.2_Silent_p.R597R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.R597R|LILRB1_ENST00000396317.1_Silent_p.R581R|LILRB1_ENST00000324602.7_Silent_p.R599R|LILRB1_ENST00000448689.1_3'UTR|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396327.3_Silent_p.R598R|LILRB1_ENST00000396315.1_Silent_p.R599R|LILRB1_ENST00000418536.2_Silent_p.R581R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	597					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AAGAGGACAGGCAGATGGACA	0.607										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1789-1791)agG>agA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							97.0	81.0	86.0					19																	55148088		2201	4296	6497	SO:0001819	synonymous_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148088G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1791G>A	19.37:g.55148088G>A		HNSCC(37;0.09)				LILRB1_ENST00000324602.7_Silent_p.R599R|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.R599R|LILRB1_ENST00000396332.4_Silent_p.R598R|LILRB1_ENST00000396317.1_Silent_p.R581R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.R597R|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Silent_p.R581R|LILRB1_ENST00000396327.3_Silent_p.R598R|LILRB1_ENST00000427581.2_Silent_p.R648R|LILRB1_ENST00000434867.2_Silent_p.R597R	p.R597R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	15	2148	+			597					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1791G>A	CCDS42617.1																																																																																				0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			3	44	0	0	0	1	0	3	44				
PLAC8	51316	broad.mit.edu	37	4	84015882	84015882	+	Silent	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:84015882G>T	ENST00000509973.1	-	3	258	c.135C>A	c.(133-135)atC>atA	p.I45I	PLAC8_ENST00000426923.2_Silent_p.I102I|PLAC8_ENST00000505406.1_Silent_p.I102I|PLAC8_ENST00000411416.2_Silent_p.I102I|PLAC8_ENST00000515389.1_5'UTR|PLAC8_ENST00000311507.4_Silent_p.I102I			Q9UHV8	PP13_HUMAN	placenta-specific 8	0	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TATCTCTCTTGATTTGGCAAA	0.353																																						ENST00000426923.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(304-306)atC>atA		placenta-specific 8							113.0	104.0	107.0					4																	84015882		2203	4300	6503	SO:0001819	synonymous_variant	51316							g.chr4:84015882G>T	AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.135C>A	4.37:g.84015882G>T						PLAC8_ENST00000515389.1_5'UTR|PLAC8_ENST00000509973.1_Silent_p.I45I|PLAC8_ENST00000411416.2_Silent_p.I102I|PLAC8_ENST00000311507.4_Silent_p.I102I|PLAC8_ENST00000505406.1_Silent_p.I102I	p.I102I	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN			4	384	-		Hepatocellular(203;0.114)	102					C5HZ15	Silent	SNP	ENST00000509973.1	37	c.306C>A																																																																																					0.353	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363078.1	NM_016619		5	44	1	0	0.0215528	1	0.0218744	5	44				
MAP3K10	4294	broad.mit.edu	37	19	40715127	40715127	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:40715127G>A	ENST00000253055.3	+	6	1840		c.e6+1			NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCATTCGCCGTGAGTATCTC	0.552																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.e6+1		mitogen-activated protein kinase kinase kinase 10							42.0	48.0	46.0					19																	40715127		2203	4300	6503	SO:0001630	splice_region_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40715127G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1552+1G>A	19.37:g.40715127G>A								NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			6	1840	+								Q12761|Q14871	Splice_Site	SNP	ENST00000253055.3	37		CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754113	0.89843	.	.	ENSG00000130758	ENST00000253055	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2537	0.82501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K10	45406967	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	9.712000	0.98738	2.518000	0.84900	0.555000	0.69702	.		0.552	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446	Intron	4	98	0	0	0	1	0	4	98				
MYO15A	51168	broad.mit.edu	37	17	18023064	18023064	+	Missense_Mutation	SNP	C	C	T	rs372516960	byFrequency	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:18023064C>T	ENST00000205890.5	+	2	1288	c.950C>T	c.(949-951)gCg>gTg	p.A317V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	317					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCCATATGCGCCCCCGTCG	0.602													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16061	0.0		0.0	False		,,,				2504	0.0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(949-951)gCg>gTg		myosin XVA		C	VAL/ALA	3,3829		0,3,1913	49.0	55.0	53.0		950	5.8	1.0	17		53	0,8222		0,0,4111	no	missense	MYO15A	NM_016239.3	64	0,3,6024	TT,TC,CC		0.0,0.0783,0.0249	probably-damaging	317/3531	18023064	3,12051	1916	4111	6027	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023064C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.950C>T	17.37:g.18023064C>T	ENSP00000205890:p.Ala317Val						p.A317V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1288	+	all_neural(463;0.228)		317			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.950C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896449	0.52121	7.83E-4	0.0	ENSG00000091536	ENST00000205890	D	0.91521	-2.86	5.82	5.82	0.92795	.	.	.	.	.	D	0.90913	0.7144	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.60415	0.874	D	0.91124	0.4932	9	0.56958	D	0.05	.	14.3736	0.66857	0.1486:0.8514:0.0:0.0	.	317	Q9UKN7	MYO15_HUMAN	V	317	ENSP00000205890:A317V	ENSP00000205890:A317V	A	+	2	0	MYO15A	17963789	0.933000	0.31639	0.966000	0.40874	0.115000	0.19883	2.315000	0.43752	2.756000	0.94617	0.561000	0.74099	GCG		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	138	0	0	0	1	0	4	138				
LRRC37A4P	55073	broad.mit.edu	37	17	43587708	43587708	+	RNA	SNP	A	A	G	rs574499127	byFrequency	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:43587708A>G	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		AACAACCACCATCTCCAAATC	0.348													A|||	33	0.00658946	0.0023	0.0058	5008	,	,		18816	0.002		0.0219	False		,,,				2504	0.002					ENST00000253803.2																			0																																																			0							g.chr17:43587708A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587708A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.348	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	89	0	0	0	1	0	6	89				
CNGA4	1262	broad.mit.edu	37	11	6261374	6261374	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:6261374T>G	ENST00000379936.2	+	4	465	c.350T>G	c.(349-351)tTg>tGg	p.L117W	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	117					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTTCTTCTTGGACCTGGCT	0.632																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(349-351)tTg>tGg		cyclic nucleotide gated channel alpha 4							138.0	132.0	134.0					11																	6261374		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261374T>G	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.350T>G	11.37:g.6261374T>G	ENSP00000369268:p.Leu117Trp					CNGA4_ENST00000533426.1_Intron	p.L117W	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	465	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	117						Missense_Mutation	SNP	ENST00000379936.2	37	c.350T>G	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.848118	0.32699	.	.	ENSG00000132259	ENST00000379936	D	0.99089	-5.41	5.15	2.65	0.31530	Ion transport (1);	0.335390	0.34178	N	0.004185	D	0.97377	0.9142	M	0.66297	2.02	0.26858	N	0.968027	B;B	0.30068	0.267;0.193	B;B	0.33339	0.118;0.162	D	0.94788	0.7959	10	0.49607	T	0.09	.	6.2218	0.20685	0.0:0.0915:0.3063:0.6022	.	117;77	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	W	117	ENSP00000369268:L117W	ENSP00000369268:L117W	L	+	2	0	CNGA4	6217950	0.416000	0.25424	0.672000	0.29872	0.827000	0.46813	0.679000	0.25291	0.903000	0.36546	0.533000	0.62120	TTG		0.632	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		97	238	0	0	0	1	0	97	238				
EZH2	2146	broad.mit.edu	37	7	148544345	148544345	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:148544345G>A	ENST00000460911.1	-	2	134	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	EZH2_ENST00000476773.1_Missense_Mutation_p.R16W|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R16W|EZH2_ENST00000350995.2_Missense_Mutation_p.R16W|EZH2_ENST00000320356.2_Missense_Mutation_p.R16W|EZH2_ENST00000483967.1_Missense_Mutation_p.R16W|EZH2_ENST00000478654.1_Missense_Mutation_p.R16W			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	16	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACGCTTCCGCCAACAAACT	0.388			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(46-48)Cgg>Tgg		enhancer of zeste homolog 2 (Drosophila)							203.0	202.0	202.0					7																	148544345		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148544345G>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.46C>T	7.37:g.148544345G>A	ENSP00000419711:p.Arg16Trp					EZH2_ENST00000483967.1_Missense_Mutation_p.R16W|EZH2_ENST00000460911.1_Missense_Mutation_p.R16W|EZH2_ENST00000350995.2_Missense_Mutation_p.R16W|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R16W|EZH2_ENST00000478654.1_Missense_Mutation_p.R16W|EZH2_ENST00000476773.1_Missense_Mutation_p.R16W	p.R16W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		2	167	-	Melanoma(164;0.15)		16			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.46C>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328305	0.81690	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.95035	-3.57;-3.57;-3.57;-3.59;-3.57;-3.57;-3.57	5.84	5.84	0.93424	.	0.054003	0.64402	D	0.000001	D	0.95207	0.8446	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.999;0.999	D;D;D;D;D;D	0.66847	0.947;0.946;0.946;0.92;0.946;0.929	D	0.95583	0.8648	10	0.87932	D	0	.	16.4093	0.83701	0.0:0.0:0.868:0.132	.	16;16;16;16;16;16	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	W	16	ENSP00000417062:R16W;ENSP00000320147:R16W;ENSP00000419711:R16W;ENSP00000223193:R16W;ENSP00000443219:R16W;ENSP00000419050:R16W;ENSP00000419856:R16W	ENSP00000320147:R16W	R	-	1	2	EZH2	148175278	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.819000	0.48049	2.764000	0.94973	0.650000	0.86243	CGG		0.388	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		5	351	0	0	0	1	0	5	351				
AJAP1	55966	broad.mit.edu	37	1	4832521	4832521	+	Missense_Mutation	SNP	G	G	A	rs201524940		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:4832521G>A	ENST00000378191.4	+	4	1480	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	AJAP1_ENST00000378190.3_Missense_Mutation_p.V367M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	367	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCTGTGCCCGTGTACACCGA	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.0					ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1099-1101)Gtg>Atg		adherens junctions associated protein 1							67.0	61.0	63.0					1																	4832521		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832521G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1099G>A	1.37:g.4832521G>A	ENSP00000367433:p.Val367Met					AJAP1_ENST00000378190.3_Missense_Mutation_p.V367M	p.V367M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1480	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	367			Targeting signals.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1099G>A	CCDS54.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.75	2.329884	0.41297	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.48836	0.8;0.8	5.12	3.2	0.36748	.	0.193573	0.44097	D	0.000495	T	0.23210	0.0561	N	0.12182	0.205	0.40351	D	0.97913	P	0.43431	0.807	B	0.30029	0.11	T	0.15636	-1.0430	10	0.72032	D	0.01	-19.4098	10.0917	0.42451	0.1685:0.0:0.8315:0.0	.	367	Q9UKB5	AJAP1_HUMAN	M	367	ENSP00000367432:V367M;ENSP00000367433:V367M	ENSP00000367432:V367M	V	+	1	0	AJAP1	4732381	0.998000	0.40836	0.577000	0.28562	0.047000	0.14425	2.793000	0.47845	1.126000	0.42016	0.561000	0.74099	GTG		0.587	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		5	56	0	0	0	1	0	5	56				
RP1L1	94137	broad.mit.edu	37	8	10474068	10474068	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:10474068G>T	ENST00000382483.3	-	3	862	c.639C>A	c.(637-639)agC>agA	p.S213R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	213	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACAGAGGGGCTGTGCAGCA	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(637-639)agC>agA		retinitis pigmentosa 1-like 1							34.0	37.0	36.0					8																	10474068		1936	4137	6073	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10474068G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.639C>A	8.37:g.10474068G>T	ENSP00000371923:p.Ser213Arg						p.S213R	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	862	-			213					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.639C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772595	0.31411	.	.	ENSG00000183638	ENST00000382483	D	0.86497	-2.13	4.3	3.39	0.38822	.	0.381500	0.19355	N	0.116292	D	0.90779	0.7105	M	0.65975	2.015	0.24638	N	0.99358	D	0.67145	0.996	D	0.71184	0.972	T	0.81890	-0.0725	10	0.66056	D	0.02	-5.3628	8.8611	0.35258	0.1784:0.0:0.8216:0.0	.	213	A6NKC6	.	R	213	ENSP00000371923:S213R	ENSP00000371923:S213R	S	-	3	2	RP1L1	10511478	1.000000	0.71417	0.539000	0.28077	0.134000	0.20937	1.231000	0.32624	2.228000	0.72767	0.313000	0.20887	AGC		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			14	45	1	0	4.3838e-07	1	4.80804e-07	14	45				
WDR60	55112	broad.mit.edu	37	7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	715					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACTGTTTGCCGGAACAGCGCA	0.502																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(2143-2145)Gga>Aga		WD repeat domain 60							144.0	148.0	146.0					7																	158716310		2177	4285	6462	SO:0001583	missense	55112							g.chr7:158716310G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2143G>A	7.37:g.158716310G>A	ENSP00000384290:p.Gly715Arg						p.G715R	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	17	2301	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	715					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2143G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305740	0.23736	.	.	ENSG00000126870	ENST00000407559	D	0.86164	-2.08	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.954	D	0.95188	0.8305	10	0.87932	D	0	-33.8171	17.2998	0.87180	0.0:0.0:1.0:0.0	.	198;715	A4D230;Q8WVS4	.;WDR60_HUMAN	R	715	ENSP00000384290:G715R	ENSP00000384290:G715R	G	+	1	0	WDR60	158409071	1.000000	0.71417	0.187000	0.23214	0.081000	0.17604	7.228000	0.78079	2.407000	0.81776	0.655000	0.94253	GGA		0.502	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		4	159	0	0	0	1	0	4	159				
OPLAH	26873	broad.mit.edu	37	8	145109715	145109715	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:145109715C>T	ENST00000426825.1	-	18	2592	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	837					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCCTCACCGGTGTGATAA	0.672																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.e18+1		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						24.0	30.0	28.0					8																	145109715		2123	4235	6358	SO:0001630	splice_region_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145109715C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2511+1G>A	8.37:g.145109715C>T						OPLAH_ENST00000534424.1_5'UTR	p.P837_splice	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		18	2592	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		837					A5PKY8|Q75W65|Q9Y4Q0	Splice_Site	SNP	ENST00000426825.1	37	c.2511_splice																																																																																					0.672	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	Silent	14	52	0	0	0	1	0	14	52				
KCNS1	3787	broad.mit.edu	37	20	43727084	43727084	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:43727084A>T	ENST00000306117.1	-	4	725	c.329T>A	c.(328-330)tTc>tAc	p.F110Y	KCNS1_ENST00000537075.1_Missense_Mutation_p.F110Y	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	110					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCTCAGGAAGAAGCCCGGGTG	0.692																																						ENST00000306117.1																			0				endometrium(1)|lung(3)|ovary(1)|stomach(1)	6						c.(328-330)tTc>tAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1							22.0	24.0	23.0					20																	43727084		2188	4281	6469	SO:0001583	missense	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43727084A>T	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.329T>A	20.37:g.43727084A>T	ENSP00000307694:p.Phe110Tyr					KCNS1_ENST00000537075.1_Missense_Mutation_p.F110Y	p.F110Y	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN			4	725	-		Myeloproliferative disorder(115;0.0122)	110					A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	c.329T>A	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881879	0.91740	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	T;T	0.76316	-1.01;-1.01	4.72	4.72	0.59763	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.056737	0.85682	D	0.000000	T	0.79816	0.4511	N	0.25825	0.765	0.42344	D	0.992348	D	0.64830	0.994	D	0.64410	0.925	T	0.82194	-0.0578	10	0.56958	D	0.05	.	14.2256	0.65858	1.0:0.0:0.0:0.0	.	110	Q96KK3	KCNS1_HUMAN	Y	110	ENSP00000307694:F110Y;ENSP00000445595:F110Y	ENSP00000307694:F110Y	F	-	2	0	KCNS1	43160498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.028000	0.93712	1.760000	0.52011	0.533000	0.62120	TTC		0.692	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		5	13	0	0	0	1	0	5	13				
DSCAML1	57453	broad.mit.edu	37	11	117307910	117307910	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:117307910G>A	ENST00000321322.6	-	26	4829	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1340C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1550					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCCTCATGCGCAGCTCGTAC	0.647																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4828-4830)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							102.0	95.0	97.0					11																	117307910		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117307910G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4828C>T	11.37:g.117307910G>A	ENSP00000315465:p.Arg1610Cys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1340C	p.R1610C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4829	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1550					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4828C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123915	0.77436	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.59364	0.27;0.27	4.1	4.1	0.47936	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61048	0.2316	L	0.50333	1.59	0.52501	D	0.999957	D	0.65815	0.995	P	0.52343	0.696	T	0.65631	-0.6121	9	0.87932	D	0	.	12.0703	0.53611	0.0:0.0:0.8281:0.1719	.	1550	Q8TD84	DSCL1_HUMAN	C	1340;1610;1317	ENSP00000434335:R1340C;ENSP00000315465:R1610C	ENSP00000315465:R1610C	R	-	1	0	DSCAML1	116813120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.639000	0.67868	2.286000	0.76751	0.655000	0.94253	CGC		0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		4	198	0	0	0	1	0	4	198				
KLB	152831	broad.mit.edu	37	4	39448818	39448818	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448818C>T	ENST00000257408.4	+	4	2569	c.2472C>T	c.(2470-2472)aaC>aaT	p.N824N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCGCGCTCAACCACTTCACCA	0.652																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2470-2472)aaC>aaT		klotho beta							49.0	44.0	46.0					4																	39448818		2203	4300	6503	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448818C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2472C>T	4.37:g.39448818C>T							p.N824N	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2569	+			824			Glycosyl hydrolase-1 2.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.2472C>T	CCDS3451.1																																																																																				0.652	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		10	89	0	0	0	1	0	10	89				
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:47696688T>C	ENST00000393328.2	-	5	625	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87C|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.Y87C(2)|p.Y87S(2)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)tAc>tGc		speckle-type POZ protein							114.0	107.0	109.0					17																	47696688		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696688T>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.260A>G	17.37:g.47696688T>C	ENSP00000377001:p.Tyr87Cys	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87C|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C	p.Y87C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	730	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.260A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356797	0.82243	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.93550	3.43	0.80722	D	1	P	0.43633	0.813	P	0.49226	0.603	D	0.85384	0.1121	10	0.54805	T	0.06	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	C	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87C;ENSP00000377004:Y87C;ENSP00000240327:Y87C;ENSP00000425905:Y87C;ENSP00000420908:Y87C;ENSP00000426986:Y87C;ENSP00000420960:Y87C;ENSP00000426262:Y87C;ENSP00000424119:Y87C;ENSP00000426537:Y87C	ENSP00000240327:Y87C	Y	-	2	0	SPOP	45051687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		20	60	0	0	0	1	0	20	60				
ACSM5	54988	broad.mit.edu	37	16	20442593	20442593	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:20442593G>A	ENST00000331849.4	+	10	1405	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	420					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGGGAATGTTGCCGTCCGTAT	0.512																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1258-1260)Gcc>Acc		acyl-CoA synthetase medium-chain family member 5							191.0	158.0	169.0					16																	20442593		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442593G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1258G>A	16.37:g.20442593G>A	ENSP00000327916:p.Ala420Thr						p.A420T	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			10	1405	+			420					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1258G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464402	0.84425	.	.	ENSG00000183549	ENST00000331849	T	0.41400	1.0	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.254426	0.27275	N	0.020113	T	0.62539	0.2436	M	0.88640	2.97	0.40144	D	0.976869	P	0.46512	0.879	P	0.51550	0.673	T	0.74109	-0.3771	10	0.87932	D	0	-6.9187	16.0686	0.80907	0.0:0.0:1.0:0.0	.	420	Q6NUN0	ACSM5_HUMAN	T	420	ENSP00000327916:A420T	ENSP00000327916:A420T	A	+	1	0	ACSM5	20350094	1.000000	0.71417	0.083000	0.20561	0.774000	0.43823	7.352000	0.79404	2.119000	0.64992	0.650000	0.86243	GCC		0.512	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		9	162	0	0	0	1	0	9	162				
ANKS1B	56899	broad.mit.edu	37	12	100166698	100166698	+	Splice_Site	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr12:100166698A>G	ENST00000547776.2	-	8	1128		c.e8+1		ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Splice_Site	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGCCTTACTTACTACACTCTG	0.433																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.e8+1		ankyrin repeat and sterile alpha motif domain containing 1B							113.0	114.0	114.0					12																	100166698		1935	4136	6071	SO:0001630	splice_region_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100166698A>G	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1128+1T>C	12.37:g.100166698A>G						ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Intron		NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	8	1128	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)						A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Splice_Site	SNP	ENST00000547776.2	37		CCDS55872.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985764	0.74589	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4423	0.67325	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKS1B	98690829	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.990000	0.56965	2.219000	0.72066	0.533000	0.62120	.		0.433	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	Intron	7	47	0	0	0	1	0	7	47				
DNM1P34	729809	broad.mit.edu	37	15	75594029	75594029	+	RNA	SNP	A	A	G	rs555203099	byFrequency	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr15:75594029A>G	ENST00000567292.1	-	0	540							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCTTGTCCCCATGCAAGTACA	0.577													a|||	17	0.00339457	0.0121	0.0014	5008	,	,		20069	0.0		0.0	False		,,,				2504	0.0					ENST00000567292.1																			0																																																			0							g.chr15:75594029A>G	AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75594029A>G														0	540	-									RNA	SNP	ENST00000567292.1	37																																																																																						0.577	DNM1P34-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419799.1	NG_009143		8	7	0	0	0	1	0	8	7				
DHX30	22907	broad.mit.edu	37	3	47889325	47889325	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr3:47889325T>C	ENST00000445061.1	+	14	2572	c.2165T>C	c.(2164-2166)gTt>gCt	p.V722A	DHX30_ENST00000348968.4_Missense_Mutation_p.V694A|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.V750A|DHX30_ENST00000446256.2_Missense_Mutation_p.V683A	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	722	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGCCTCCAGTTGGGGTGCGC	0.527																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2047-2049)gTt>gCt		DEAH (Asp-Glu-Ala-His) box helicase 30							113.0	90.0	98.0					3																	47889325		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889325T>C	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2165T>C	3.37:g.47889325T>C	ENSP00000405620:p.Val722Ala					DHX30_ENST00000348968.4_Missense_Mutation_p.V694A|DHX30_ENST00000457607.1_Missense_Mutation_p.V750A|DHX30_ENST00000445061.1_Missense_Mutation_p.V722A	p.V683A	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2620	+			722			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2048T>C	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	T	0.064	-1.216119	0.01542	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.73	2.06	0.26882	Helicase, C-terminal (3);	1.512850	0.03716	N	0.250992	T	0.38480	0.1042	N	0.01522	-0.82	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45877	-0.9231	10	0.06625	T	0.88	.	3.3982	0.07313	0.2078:0.4343:0.0:0.3579	.	722;683	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	A	683;722;694;750	ENSP00000392601:V683A;ENSP00000405620:V722A;ENSP00000343442:V694A;ENSP00000394682:V750A	ENSP00000343442:V694A	V	+	2	0	DHX30	47864329	0.000000	0.05858	0.025000	0.17156	0.974000	0.67602	0.171000	0.16685	0.439000	0.26476	0.460000	0.39030	GTT		0.527	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	63	0	0	0	1	0	4	63				
SYNE1	23345	broad.mit.edu	37	6	152469436	152469436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:152469436C>T	ENST00000367255.5	-	137	25321	c.24720G>A	c.(24718-24720)tgG>tgA	p.W8240*	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.W2764*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.W395*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W8240*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.W395*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W7852*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8240					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCGGTCGTGCCAGTGCAGGT	0.617										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24718-24720)tgG>tgA		spectrin repeat containing, nuclear envelope 1							70.0	72.0	71.0					6																	152469436		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469436C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24720G>A	6.37:g.152469436C>T	ENSP00000356224:p.Trp8240*	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.W2764*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.W395*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W8240*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W7852*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.W395*	p.W8240*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25321	-		Ovarian(120;0.0955)	8240					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.24720G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	50	16.716932	0.99870	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	.	.	.	5.4	5.4	0.78164	.	0.000000	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1644	0.93548	0.0:1.0:0.0:0.0	.	.	.	.	X	8240;395;886;8169;8240;8169;7852;2764;402;397;1162;395	.	ENSP00000265368:W8240X	W	-	3	0	SYNE1	152511129	1.000000	0.71417	0.997000	0.53966	0.679000	0.39708	7.263000	0.78421	2.530000	0.85305	0.655000	0.94253	TGG		0.617	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	86	0	0	0	1	0	9	86				
CNTNAP1	8506	broad.mit.edu	37	17	40843951	40843951	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:40843951G>T	ENST00000264638.4	+	16	2689	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	824	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTCCTAGAGAATATGGGGG	0.607																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2470-2472)gaG>gaT		contactin associated protein 1							107.0	118.0	114.0					17																	40843951		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843951G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2472G>T	17.37:g.40843951G>T	ENSP00000264638:p.Glu824Asp					CTD-3193K9.3_ENST00000592440.1_RNA	p.E824D	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2689	+		Breast(137;0.000143)	824			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2472G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320517	0.81469	.	.	ENSG00000108797	ENST00000264638	T	0.77877	-1.13	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	T	0.79644	0.4481	M	0.81112	2.525	0.42626	D	0.993366	B	0.29766	0.256	B	0.38880	0.284	T	0.77194	-0.2677	10	0.37606	T	0.19	.	8.8348	0.35107	0.1611:0.0:0.8389:0.0	.	824	P78357	CNTP1_HUMAN	D	824	ENSP00000264638:E824D	ENSP00000264638:E824D	E	+	3	2	CNTNAP1	38097477	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.301000	0.51842	2.755000	0.94549	0.655000	0.94253	GAG		0.607	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		6	370	1	0	8.12818e-05	1	8.6362e-05	6	370				
MAZ	4150	broad.mit.edu	37	16	29820948	29820948	+	Intron	SNP	T	T	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:29820948T>A	ENST00000322945.6	+	5	1444				MAZ_ENST00000568544.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Missense_Mutation_p.L456Q|PRRT2_ENST00000567659.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568282.1_Missense_Mutation_p.L57Q|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000545521.1_Intron|PRRT2_ENST00000358758.7_5'Flank|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGTGCAAGCTGTGCAGCGTG	0.711																																					Colon(72;875 1167 15364 30899 37091)	ENST00000219782.6																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1366-1368)cTg>cAg		MYC-associated zinc finger protein (purine-binding transcription factor)							16.0	17.0	17.0					16																	29820948		2005	4156	6161	SO:0001627	intron_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29820948T>A	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1280-450T>A	16.37:g.29820948T>A						MAZ_ENST00000568544.1_Intron|MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_Missense_Mutation_p.L57Q|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000322945.6_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Intron	p.L456Q	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN			5	1473	+			194					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.1367T>A	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252380	0.80135	.	.	ENSG00000103495	ENST00000219782	T	0.10668	2.85	4.64	4.64	0.57946	.	2.450850	0.04033	U	0.301838	T	0.20373	0.0490	N	0.16903	0.455	0.39596	D	0.969664	D	0.89917	1.0	D	0.91635	0.999	T	0.16070	-1.0415	10	0.15066	T	0.55	.	12.3194	0.54977	0.0:0.0:0.0:1.0	.	456	G5E927	.	Q	456	ENSP00000219782:L456Q	ENSP00000219782:L456Q	L	+	2	0	MAZ	29728449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.346000	0.52190	1.874000	0.54306	0.459000	0.35465	CTG		0.711	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		13	35	0	0	0	1	0	13	35				
JMJD1C	221037	broad.mit.edu	37	10	64968222	64968222	+	Silent	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:64968222A>G	ENST00000399262.2	-	10	3425	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D	JMJD1C_ENST00000542921.1_Silent_p.D887D|JMJD1C_ENST00000399251.1_Silent_p.D850D|JMJD1C_ENST00000402544.1_Silent_p.D850D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1069					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCGTTCTACATCCATATCTT	0.388																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3205-3207)gaT>gaC		jumonji domain containing 1C							214.0	201.0	205.0					10																	64968222		1885	4122	6007	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968222A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3207T>C	10.37:g.64968222A>G						JMJD1C_ENST00000399251.1_Silent_p.D850D|JMJD1C_ENST00000402544.1_Silent_p.D850D|JMJD1C_ENST00000542921.1_Silent_p.D887D	p.D1069D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3425	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1069					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.3207T>C	CCDS41532.1																																																																																				0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		70	167	0	0	0	1	0	70	167				
KLHL13	90293	broad.mit.edu	37	X	117033092	117033092	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chrX:117033092C>T	ENST00000262820.3	-	7	2656	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	KLHL13_ENST00000371882.1_Missense_Mutation_p.A532T|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567T|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586T|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567T|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532T|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541T|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532T|KLHL13_ENST00000371876.1_Missense_Mutation_p.A532T	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	583					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCGAAGACAGCGACCCCAACA	0.413																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1594-1596)Gct>Act		kelch-like family member 13							180.0	155.0	163.0					X																	117033092		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033092C>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1747G>A	X.37:g.117033092C>T	ENSP00000262820:p.Ala583Thr					KLHL13_ENST00000262820.3_Missense_Mutation_p.A583T|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532T|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532T|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567T|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586T|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532T|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567T|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541T	p.A532T			Q9P2N7	KLH13_HUMAN			6	4015	-			583					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1594G>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967507	0.74131	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.103199	0.64402	D	0.000003	T	0.79381	0.4436	L	0.39514	1.22	0.80722	D	1	P;P;P;P	0.48694	0.809;0.82;0.809;0.914	B;P;B;P	0.48270	0.293;0.496;0.293;0.572	T	0.76966	-0.2763	10	0.27082	T	0.32	.	17.9026	0.88909	0.0:1.0:0.0:0.0	.	567;586;577;583	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	T	532;532;532;532;567;567;586;583;541;532	ENSP00000360949:A532T;ENSP00000360943:A532T;ENSP00000360945:A532T;ENSP00000412640:A532T;ENSP00000444450:A567T;ENSP00000441029:A567T;ENSP00000443191:A586T;ENSP00000262820:A583T;ENSP00000440707:A541T;ENSP00000419803:A532T	ENSP00000262820:A583T	A	-	1	0	KLHL13	116917120	1.000000	0.71417	0.860000	0.33809	0.973000	0.67179	5.913000	0.69957	2.417000	0.82017	0.600000	0.82982	GCT		0.413	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		4	117	0	0	0	1	0	4	117				
CACNA1E	777	broad.mit.edu	37	1	181726120	181726120	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:181726120G>A	ENST00000367573.2	+	30	4187	c.4187G>A	c.(4186-4188)cGc>cAc	p.R1396H	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1377H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1396					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCAGCAACCGCATGGAGATG	0.488																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4129-4131)cGc>cAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							183.0	190.0	188.0					1																	181726120		1962	4166	6128	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181726120G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4187G>A	1.37:g.181726120G>A	ENSP00000356545:p.Arg1396His					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1396H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328H	p.R1377H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			29	4295	+			1396					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4130G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459294	0.96240	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.75	5.75	0.90469	Ion transport (1);	0.050918	0.85682	D	0.000000	D	0.98789	0.9592	M	0.67953	2.075	0.80722	D	1	P;D;D	0.89917	0.888;1.0;1.0	P;D;D	0.97110	0.453;1.0;0.996	D	0.99885	1.1121	10	0.87932	D	0	.	19.5549	0.95342	0.0:0.0:1.0:0.0	.	1377;1396;1396	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1396;1377;1347;1328;1003;1377;1396	ENSP00000356542:R1396H;ENSP00000434814:R1377H;ENSP00000350183:R1347H;ENSP00000351101:R1328H;ENSP00000356539:R1003H;ENSP00000353222:R1377H;ENSP00000356545:R1396H	ENSP00000350183:R1347H	R	+	2	0	CACNA1E	179992743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.716000	0.92895	0.655000	0.94253	CGC		0.488	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		26	92	0	0	0	1	0	26	92				
DLGAP2	9228	broad.mit.edu	37	8	1624784	1624784	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:1624784G>A	ENST00000421627.2	+	8	2182	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GATGAGAAGCGGTAACTCAGC	0.582																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.e8+1		discs, large (Drosophila) homolog-associated protein 2							33.0	36.0	35.0					8																	1624784		1911	4132	6043	SO:0001630	splice_region_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1624784G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2048+1G>A	8.37:g.1624784G>A							p.R683_splice	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	8	2182	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	762					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Splice_Site	SNP	ENST00000421627.2	37	c.2048_splice	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.19|19.19	3.779607|3.779607	0.70107|0.70107	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.17854	.|2.25	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.107337	.|0.64402	.|D	.|0.000010	T|T	0.42653|0.42653	0.1212|0.1212	M|M	0.77820|0.77820	2.39|2.39	0.43930|0.43930	D|D	0.99658|0.99658	.|D;D	.|0.67145	.|0.966;0.996	.|P;P	.|0.60609	.|0.487;0.877	T|T	0.17258|0.17258	-1.0375|-1.0375	5|10	.|0.44086	.|T	.|0.13	-4.6979|-4.6979	19.7475|19.7475	0.96257|0.96257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|748;762	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	N|Q	686|714;683	.|ENSP00000400258:R683Q	.|ENSP00000348366:R714Q	D|R	+|+	1|2	0|0	DLGAP2|DLGAP2	1612191|1612191	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.063000|0.063000	0.16089|0.16089	7.616000|7.616000	0.83018|0.83018	2.659000|2.659000	0.90383|0.90383	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.582	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	Missense_Mutation	3	26	0	0	0	1	0	3	26				
INSRR	3645	broad.mit.edu	37	1	156828373	156828373	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:156828373G>A	ENST00000368195.3	-	1	437	c.41C>T	c.(40-42)cCt>cTt	p.P14L	NTRK1_ENST00000368196.3_5'Flank|NTRK1_ENST00000358660.3_5'Flank|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000524377.1_5'Flank	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	14					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGATCACAGGCAGGCATGC	0.632																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(40-42)cCt>cTt		insulin receptor-related receptor							113.0	102.0	106.0					1																	156828373		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156828373G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.41C>T	1.37:g.156828373G>A	ENSP00000357178:p.Pro14Leu					NTRK1_ENST00000392302.2_Intron	p.P14L	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			1	437	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		14					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.41C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.738648	0.00681	.	.	ENSG00000027644	ENST00000368195	T	0.72615	-0.67	4.97	3.86	0.44501	.	0.180275	0.26955	N	0.021657	T	0.23965	0.0580	.	.	.	0.32192	N	0.578948	B	0.02656	0.0	B	0.01281	0.0	T	0.06661	-1.0814	9	0.07990	T	0.79	.	6.7195	0.23323	0.8915:0.0:0.1085:0.0	.	14	P14616	INSRR_HUMAN	L	14	ENSP00000357178:P14L	ENSP00000357178:P14L	P	-	2	0	INSRR	155094997	0.949000	0.32298	0.149000	0.22428	0.187000	0.23431	2.806000	0.47947	0.927000	0.37143	-0.302000	0.09304	CCT		0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		17	77	0	0	0	1	0	17	77				
PPP1R3D	5509	broad.mit.edu	37	20	58514330	58514330	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:58514330C>T	ENST00000370996.3	-	1	1022	c.657G>A	c.(655-657)gcG>gcA	p.A219A	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	219	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			ACCGCGCCACCGCCTCGTGGG	0.687																																						ENST00000370996.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13						c.(655-657)gcG>gcA		protein phosphatase 1, regulatory subunit 3D							30.0	30.0	30.0					20																	58514330		2199	4296	6495	SO:0001819	synonymous_variant	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514330C>T	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.657G>A	20.37:g.58514330C>T						FAM217B_ENST00000358293.3_Intron	p.A219A	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	1022	-	all_lung(29;0.00391)		219			CBM21.		Q6DK02	Silent	SNP	ENST00000370996.3	37	c.657G>A	CCDS13483.1																																																																																				0.687	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		11	72	0	0	0	1	0	11	72				
ARAP3	64411	broad.mit.edu	37	5	141049577	141049577	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:141049577C>G	ENST00000239440.4	-	15	2226	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ARAP3_ENST00000513878.1_Missense_Mutation_p.E383Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.E623Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	721					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGCTGTTTTCCGATGCAAAC	0.587																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2161-2163)Gaa>Caa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							62.0	67.0	65.0					5																	141049577		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049577C>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2161G>C	5.37:g.141049577C>G	ENSP00000239440:p.Glu721Gln					ARAP3_ENST00000513878.1_Missense_Mutation_p.E383Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.E623Q	p.E721Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			15	2226	-			721					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2161G>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288793	0.80914	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.13901	2.55;2.55;2.55	5.14	5.14	0.70334	Pleckstrin homology domain (1);	0.243603	0.39834	N	0.001248	T	0.34250	0.0891	M	0.62723	1.935	0.37899	D	0.930989	D;D;D	0.76494	0.999;0.996;0.985	D;P;P	0.66196	0.942;0.889;0.715	T	0.15464	-1.0436	10	0.54805	T	0.06	.	17.145	0.86764	0.0:1.0:0.0:0.0	.	383;623;721	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	623;721;383	ENSP00000421826:E623Q;ENSP00000239440:E721Q;ENSP00000421468:E383Q	ENSP00000239440:E721Q	E	-	1	0	ARAP3	141029761	0.998000	0.40836	0.991000	0.47740	0.808000	0.45660	4.158000	0.58150	2.389000	0.81357	0.557000	0.71058	GAA		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	95	0	0	0	1	0	8	95				
GFI1	2672	broad.mit.edu	37	1	92944268	92944268	+	Silent	SNP	T	T	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:92944268T>G	ENST00000370332.1	-	6	1285	c.967A>C	c.(967-969)Agg>Cgg	p.R323R	GFI1_ENST00000427103.1_Silent_p.R323R|GFI1_ENST00000294702.5_Silent_p.R323R	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	323					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GTGGATGACCTCTTGAAGCTC	0.517																																						ENST00000370332.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(967-969)Agg>Cgg		growth factor independent 1 transcription repressor							188.0	166.0	174.0					1																	92944268		2203	4300	6503	SO:0001819	synonymous_variant	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92944268T>G	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.967A>C	1.37:g.92944268T>G						GFI1_ENST00000294702.5_Silent_p.R323R|GFI1_ENST00000427103.1_Silent_p.R323R	p.R323R	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	6	1285	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	323					Q8N564	Silent	SNP	ENST00000370332.1	37	c.967A>C	CCDS30773.1																																																																																				0.517	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		23	85	0	0	0	1	0	23	85				
ALKBH4	54784	broad.mit.edu	37	7	102100103	102100103	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:102100103C>T	ENST00000292566.3	-	2	308	c.269G>A	c.(268-270)cGg>cAg	p.R90Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	90					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|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)			kidney(1)|lung(5)|skin(2)	8						GTCCATGAGCCGCACCAACTC	0.627																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(268-270)cGg>cAg		alkB, alkylation repair homolog 4 (E. coli)							116.0	104.0	108.0					7																	102100103		2203	4300	6503	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102100103C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.269G>A	7.37:g.102100103C>T	ENSP00000292566:p.Arg90Gln						p.R90Q	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			2	308	-			90					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.269G>A	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	0.389	-0.924511	0.02377	.	.	ENSG00000160993	ENST00000292566	T	0.57107	0.42	3.99	0.996	0.19844	.	0.568413	0.18050	N	0.153309	T	0.27798	0.0684	N	0.20845	0.615	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27434	-1.0074	10	0.02654	T	1	-11.9571	7.2496	0.26142	0.0:0.4814:0.0:0.5186	.	90	Q9NXW9	ALKB4_HUMAN	Q	90	ENSP00000292566:R90Q	ENSP00000292566:R90Q	R	-	2	0	ALKBH4	101887108	0.000000	0.05858	0.063000	0.19743	0.518000	0.34316	-0.026000	0.12392	-0.005000	0.14395	-0.258000	0.10820	CGG		0.627	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		47	180	0	0	0	1	0	47	180				
LPAR3	23566	broad.mit.edu	37	1	85279651	85279651	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:85279651C>G	ENST00000440886.1	-	2	978	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	LPAR3_ENST00000370611.3_Missense_Mutation_p.E314Q|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	314					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCTGGGTTCTCCTGAGAGAAG	0.547																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(940-942)Gag>Cag		lysophosphatidic acid receptor 3							114.0	105.0	108.0					1																	85279651		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279651C>G	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.940G>C	1.37:g.85279651C>G	ENSP00000395389:p.Glu314Gln					LPAR3_ENST00000370611.3_Missense_Mutation_p.E314Q|LPAR3_ENST00000491034.1_5'UTR	p.E314Q			Q9UBY5	LPAR3_HUMAN			2	978	-			314					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.940G>C	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054690	0.36277	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.36520	1.25;1.25	5.85	5.85	0.93711	.	2.814840	0.00944	N	0.002875	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.31052	-0.9957	10	0.29301	T	0.29	.	14.0364	0.64646	0.1508:0.8492:0.0:0.0	.	314	Q9UBY5	LPAR3_HUMAN	Q	314	ENSP00000395389:E314Q;ENSP00000359643:E314Q	ENSP00000359643:E314Q	E	-	1	0	LPAR3	85052239	0.985000	0.35326	0.989000	0.46669	0.955000	0.61496	2.769000	0.47654	2.773000	0.95371	0.650000	0.86243	GAG		0.547	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		28	82	0	0	0	1	0	28	82				
RAI14	26064	broad.mit.edu	37	5	34824457	34824457	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:34824457A>C	ENST00000265109.3	+	15	2797	c.2510A>C	c.(2509-2511)aAt>aCt	p.N837T	RAI14_ENST00000503673.1_Missense_Mutation_p.N837T|RAI14_ENST00000512629.1_Missense_Mutation_p.N808T|RAI14_ENST00000515799.1_Missense_Mutation_p.N840T|RAI14_ENST00000397449.1_Missense_Mutation_p.N830T|RAI14_ENST00000428746.2_Missense_Mutation_p.N837T|RAI14_ENST00000506376.1_Missense_Mutation_p.N829T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	837						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAAGGAAAATATTCAGACT	0.383																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2509-2511)aAt>aCt		retinoic acid induced 14							73.0	78.0	76.0					5																	34824457		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824457A>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2510A>C	5.37:g.34824457A>C	ENSP00000265109:p.Asn837Thr					RAI14_ENST00000506376.1_Missense_Mutation_p.N829T|RAI14_ENST00000512629.1_Missense_Mutation_p.N808T|RAI14_ENST00000397449.1_Missense_Mutation_p.N830T|RAI14_ENST00000503673.1_Missense_Mutation_p.N837T|RAI14_ENST00000515799.1_Missense_Mutation_p.N840T|RAI14_ENST00000428746.2_Missense_Mutation_p.N837T	p.N837T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	2797	+	all_lung(31;0.000191)		837					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.2510A>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	0.990	-0.694305	0.03303	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.35973	1.3;1.28;1.3;1.3;1.29;1.34;1.33	5.48	-0.364	0.12553	.	.	.	.	.	T	0.23572	0.0570	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.10296	0.003;0.002;0.002;0.002	B;B;B;B	0.11329	0.004;0.001;0.006;0.003	T	0.28554	-1.0040	9	0.18710	T	0.47	-10.9589	1.7995	0.03068	0.4368:0.2602:0.1888:0.1141	.	829;808;840;837	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	T	837;808;837;837;840;829;830	ENSP00000265109:N837T;ENSP00000422377:N808T;ENSP00000388725:N837T;ENSP00000422942:N837T;ENSP00000427123:N840T;ENSP00000423854:N829T;ENSP00000380591:N830T	ENSP00000265109:N837T	N	+	2	0	RAI14	34860214	0.126000	0.22350	0.041000	0.18516	0.974000	0.67602	0.833000	0.27504	0.033000	0.15463	-0.451000	0.05528	AAT		0.383	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		31	97	0	0	0	1	0	31	97				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	113	0	0	0	1	0	4	113				
SPTBN4	57731	broad.mit.edu	37	19	41029534	41029534	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:41029534G>A	ENST00000352632.3	+	17	3931	c.3845G>A	c.(3844-3846)cGg>cAg	p.R1282Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000392025.1_5'Flank|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1282Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1282					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTGACCCGGCTGCTGGAG	0.657																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3844-3846)cGg>cAg		spectrin, beta, non-erythrocytic 4							43.0	41.0	42.0					19																	41029534		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41029534G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3845G>A	19.37:g.41029534G>A	ENSP00000263373:p.Arg1282Gln					SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1282Q	p.R1282Q			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	3931	+			1282					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3845G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	g	6.493	0.459136	0.12342	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.33438	1.41;1.41;1.45	4.31	2.06	0.26882	.	0.272710	0.27906	U	0.017367	T	0.08133	0.0203	N	0.01352	-0.895	0.27774	N	0.943374	B;B	0.09022	0.002;0.001	B;B	0.08055	0.0;0.003	T	0.21552	-1.0242	10	0.20046	T	0.44	.	3.5223	0.07747	0.2445:0.2147:0.5408:0.0	.	1282;1282	Q9H254;Q71S06	SPTN4_HUMAN;.	Q	1282	ENSP00000263373:R1282Q;ENSP00000340345:R1282Q;ENSP00000340741:R1282Q	ENSP00000340345:R1282Q	R	+	2	0	SPTBN4	45721374	0.000000	0.05858	0.893000	0.35052	0.163000	0.22366	-0.873000	0.04214	1.043000	0.40175	0.165000	0.16767	CGG		0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	80	0	0	0	1	0	4	80				
ZNF37A	7587	broad.mit.edu	37	10	38406449	38406449	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:38406449G>T	ENST00000361085.5	+	7	715	c.370G>T	c.(370-372)Ggg>Tgg	p.G124W	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G124W	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAATAAAAATGGGAACAGCTT	0.333																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(370-372)Ggg>Tgg		zinc finger protein 37A							72.0	84.0	80.0					10																	38406449		2202	4297	6499	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406449G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.370G>T	10.37:g.38406449G>T	ENSP00000354377:p.Gly124Trp					ZNF37A_ENST00000361085.4_Missense_Mutation_p.G124W	p.G124W	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1200	+			124					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.370G>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277067	0.23307	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.08546	3.08;3.08	2.62	1.69	0.24217	.	.	.	.	.	T	0.23965	0.0580	M	0.86740	2.835	0.24983	N	0.991585	D	0.59767	0.986	P	0.57283	0.817	T	0.04347	-1.0958	9	0.87932	D	0	.	7.0475	0.25055	0.1529:0.0:0.8471:0.0	.	124	P17032	ZN37A_HUMAN	W	124	ENSP00000329141:G124W;ENSP00000354377:G124W	ENSP00000329141:G124W	G	+	1	0	ZNF37A	38446455	0.026000	0.19158	0.343000	0.25615	0.217000	0.24651	-0.284000	0.08422	1.468000	0.48064	0.591000	0.81541	GGG		0.333	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		13	170	1	0	0.0135373	1	0.0139475	13	170				
LAMC1	3915	broad.mit.edu	37	1	183085994	183085994	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:183085994C>G	ENST00000258341.4	+	8	1777	c.1520C>G	c.(1519-1521)gCt>gGt	p.A507G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	507					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGTACAAACGCTGTTGGCTAC	0.403																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1519-1521)gCt>gGt		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						114.0	109.0	111.0					1																	183085994		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183085994C>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1520C>G	1.37:g.183085994C>G	ENSP00000258341:p.Ala507Gly						p.A507G	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			8	1777	+			507					Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1520C>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006504	0.93287	.	.	ENSG00000135862	ENST00000258341	T	0.35973	1.28	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.87456	2.885	0.80722	D	1	D	0.63880	0.993	P	0.60473	0.875	T	0.71724	-0.4506	10	0.62326	D	0.03	.	17.8649	0.88793	0.0:1.0:0.0:0.0	.	507	P11047	LAMC1_HUMAN	G	507	ENSP00000258341:A507G	ENSP00000258341:A507G	A	+	2	0	LAMC1	181352617	1.000000	0.71417	0.791000	0.31998	0.910000	0.53928	7.217000	0.77982	2.220000	0.72140	0.591000	0.81541	GCT		0.403	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		15	101	0	0	0	1	0	15	101				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	28	0	0	0	1	0	3	28				
VCAN	1462	broad.mit.edu	37	5	82836888	82836888	+	Missense_Mutation	SNP	C	C	T	rs182041589		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:82836888C>T	ENST00000265077.3	+	8	8631	c.8066C>T	c.(8065-8067)aCg>aTg	p.T2689M	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.T1702M|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2689	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTACTTCCCACGGCAACATCC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		21401	0.001		0.0	False		,,,				2504	0.0					ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8065-8067)aCg>aTg		versican							109.0	101.0	104.0					5																	82836888		2202	4299	6501	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836888C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8066C>T	5.37:g.82836888C>T	ENSP00000265077:p.Thr2689Met					VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1702M|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	p.T2689M	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8631	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2689			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8066C>T	CCDS4060.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.93	2.086156	0.36855	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.38887	1.11;1.11	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	T	0.66247	0.2770	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65393	-0.6179	10	0.66056	D	0.02	.	18.6676	0.91497	0.0:1.0:0.0:0.0	.	1702;2689	P13611-2;P13611	.;CSPG2_HUMAN	M	2689;1702	ENSP00000265077:T2689M;ENSP00000340062:T1702M	ENSP00000265077:T2689M	T	+	2	0	VCAN	82872644	0.917000	0.31117	0.978000	0.43139	0.284000	0.27059	1.733000	0.38156	2.941000	0.99782	0.655000	0.94253	ACG		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		23	112	0	0	0	1	0	23	112				
LIME1	54923	broad.mit.edu	37	20	62370021	62370021	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:62370021A>G	ENST00000309546.3	+	6	743	c.656A>G	c.(655-657)gAc>gGc	p.D219G	SLC2A4RG_ENST00000266077.2_5'Flank|RP4-583P15.14_ENST00000467211.1_Intron|LIME1_ENST00000490824.1_3'UTR|RP4-583P15.15_ENST00000490623.2_3'UTR|RP4-583P15.14_ENST00000476221.1_3'UTR	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	219					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GACCCGCTGGACCCCAAGGGC	0.667																																						ENST00000309546.3																			0				kidney(1)|large_intestine(1)|liver(1)	3						c.(655-657)gAc>gGc		Lck interacting transmembrane adaptor 1							25.0	31.0	29.0					20																	62370021		2196	4296	6492	SO:0001583	missense	54923							g.chr20:62370021A>G	AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.656A>G	20.37:g.62370021A>G	ENSP00000309521:p.Asp219Gly					ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	p.D219G	NM_017806.2	NP_060276.2					6	743	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)							E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Missense_Mutation	SNP	ENST00000309546.3	37	c.656A>G	CCDS13536.1	.	.	.	.	.	.	.	.	.	.	a	10.15	1.272013	0.23221	.	.	ENSG00000203896	ENST00000309546	T	0.57595	0.39	3.15	0.505	0.16953	.	.	.	.	.	T	0.34366	0.0895	L	0.29908	0.895	0.09310	N	0.999991	B	0.06786	0.001	B	0.09377	0.004	T	0.29119	-1.0022	9	0.59425	D	0.04	.	2.4555	0.04528	0.4659:0.0:0.2531:0.2809	.	219	Q9H400	LIME1_HUMAN	G	219	ENSP00000309521:D219G	ENSP00000309521:D219G	D	+	2	0	LIME1	61840465	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.048000	0.11944	0.410000	0.25675	0.375000	0.23000	GAC		0.667	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080225.1	NM_017806		10	45	0	0	0	1	0	10	45				
KLHDC9	126823	broad.mit.edu	37	1	161069967	161069967	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:161069967G>A	ENST00000368011.4	+	4	1145	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	KLHDC9_ENST00000490724.2_3'UTR|PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	335										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTTTGGTGAGGATGGCAGGAC	0.502																																						ENST00000368011.4																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(1003-1005)Gat>Aat		kelch domain containing 9							189.0	165.0	173.0					1																	161069967		2203	4300	6503	SO:0001583	missense	126823							g.chr1:161069967G>A	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.1003G>A	1.37:g.161069967G>A	ENSP00000356990:p.Asp335Asn					KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_3'UTR	p.D335N	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		4	1145	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		335					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	37	c.1003G>A	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463368	0.84425	.	.	ENSG00000162755	ENST00000368011	T	0.73258	-0.73	5.24	5.24	0.73138	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000009	T	0.75788	0.3897	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73770	-0.3878	10	0.40728	T	0.16	-4.0979	16.3815	0.83462	0.0:0.0:1.0:0.0	.	335	Q8NEP7	KLDC9_HUMAN	N	335	ENSP00000356990:D335N	ENSP00000356990:D335N	D	+	1	0	KLHDC9	159336591	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.445000	0.66594	2.724000	0.93272	0.561000	0.74099	GAT		0.502	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		43	124	0	0	0	1	0	43	124				
PKHD1	5314	broad.mit.edu	37	6	51613289	51613289	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:51613289A>G	ENST00000371117.3	-	58	9400	c.9125T>C	c.(9124-9126)aTt>aCt	p.I3042T	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3042					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCAAACACAATATTGTCATT	0.498																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9124-9126)aTt>aCt		polycystic kidney and hepatic disease 1 (autosomal recessive)							71.0	66.0	67.0					6																	51613289		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613289A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9125T>C	6.37:g.51613289A>G	ENSP00000360158:p.Ile3042Thr					PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042T	p.I3042T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9400	-	Lung NSC(77;0.0605)		3042					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9125T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610022	0.28712	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.76709	-1.04;-1.04	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.369895	0.28431	N	0.015373	T	0.71358	0.3330	M	0.72894	2.215	0.09310	N	1	P;P;P	0.48834	0.916;0.897;0.916	B;B;B	0.44224	0.418;0.444;0.418	T	0.71241	-0.4651	10	0.72032	D	0.01	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	3042;3042;3042	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	3042	ENSP00000360158:I3042T;ENSP00000341097:I3042T	ENSP00000341097:I3042T	I	-	2	0	PKHD1	51721248	0.144000	0.22641	0.036000	0.18154	0.022000	0.10575	4.564000	0.60830	2.240000	0.73641	0.533000	0.62120	ATT		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		26	79	0	0	0	1	0	26	79				
UGT2A1	10941	broad.mit.edu	37	4	70455304	70455304	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:70455304C>T	ENST00000503640.1	-	6	1425	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q|UGT2A1_ENST00000502343.1_5'Flank	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1369-1371)cGa>cAa		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							118.0	120.0	120.0					4																	70455304		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455304C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1370G>A	4.37:g.70455304C>T	ENSP00000424478:p.Arg457Gln					UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q	p.R457Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			6	1425	-			457					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1370G>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956625	0.53293	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.03	4.65	4.65	0.58169	.	0.238654	0.38272	N	0.001747	T	0.59595	0.2205	L	0.43598	1.365	.	.	.	P;P;D;B;P	0.52996	0.916;0.945;0.957;0.341;0.65	B;P;B;B;B	0.46940	0.387;0.532;0.298;0.024;0.119	T	0.65738	-0.6095	9	0.30854	T	0.27	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	623;623;413;466;457	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	Q	466;457;413;623;457	ENSP00000387888:R466Q;ENSP00000424478:R457Q;ENSP00000421432:R413Q;ENSP00000425497:R623Q;ENSP00000286604:R457Q	ENSP00000286604:R457Q	R	-	2	0	UGT2A1	70489893	0.975000	0.34042	1.000000	0.80357	0.993000	0.82548	0.988000	0.29616	2.526000	0.85167	0.579000	0.79373	CGA		0.448	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		4	165	0	0	0	1	0	4	165				
PLD5	200150	broad.mit.edu	37	1	242511506	242511506	+	Silent	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:242511506G>A	ENST00000536534.2	-	2	469	c.228C>T	c.(226-228)tgC>tgT	p.C76C	PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000427495.1_Silent_p.C14C			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	76						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGGCAAAGCAGCACACCAGGG	0.453																																						ENST00000427495.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(40-42)tgC>tgT		phospholipase D family, member 5							54.0	39.0	44.0					1																	242511506		692	1591	2283	SO:0001819	synonymous_variant	200150					integral to membrane	catalytic activity	g.chr1:242511506G>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.228C>T	1.37:g.242511506G>A						PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000536534.1_Silent_p.C76C	p.C14C	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		2	167	-	Melanoma(84;0.242)		76					A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	c.42C>T	CCDS1621.2																																																																																				0.453	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		4	89	0	0	0	1	0	4	89				
DST	667	broad.mit.edu	37	6	56471131	56471131	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:56471131C>G	ENST00000361203.3	-	36	7669	c.7662G>C	c.(7660-7662)tgG>tgC	p.W2554C	DST_ENST00000370769.4_Missense_Mutation_p.W2554C|DST_ENST00000446842.2_Missense_Mutation_p.W2228C|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.W2732C|DST_ENST00000312431.6_Missense_Mutation_p.W2554C|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	2554					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTCCTCTCCAACTGCCAC	0.368																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(8194-8196)tgG>tgC		dystonin							54.0	48.0	50.0					6																	56471131		1889	4117	6006	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56471131C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7662G>C	6.37:g.56471131C>G	ENSP00000354508:p.Trp2554Cys					DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.W2554C|DST_ENST00000361203.3_Missense_Mutation_p.W2554C|DST_ENST00000446842.2_Missense_Mutation_p.W2228C|DST_ENST00000370769.4_Missense_Mutation_p.W2554C|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron	p.W2732C			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	8195	-	Lung NSC(77;0.103)		2554					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.8196G>C		.	.	.	.	.	.	.	.	.	.	C	10.75	1.437842	0.25900	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.84730	-0.37;-0.4;0.53;-1.89;-0.41;-0.73	4.51	4.51	0.55191	.	0.297230	0.24628	N	0.036920	D	0.88477	0.6447	.	.	.	0.31527	N	0.6616219999999999	D	0.76494	0.999	D	0.66979	0.948	D	0.89689	0.3896	8	0.87932	D	0	.	10.1955	0.43051	0.1985:0.8015:0.0:0.0	.	2228	Q03001-9	.	C	2732;2554;2228;2554;2554;2228	ENSP00000359790:W2732C;ENSP00000359805:W2554C;ENSP00000393645:W2228C;ENSP00000307959:W2554C;ENSP00000354508:W2554C;ENSP00000404924:W2228C	ENSP00000307959:W2554C	W	-	3	0	DST	56579090	0.008000	0.16893	0.989000	0.46669	0.128000	0.20619	0.518000	0.22847	2.501000	0.84356	0.455000	0.32223	TGG		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		6	26	0	0	0	1	0	6	26				
NIFK-AS1	254128	broad.mit.edu	37	2	122466739	122466739	+	RNA	DEL	G	G	-	rs201278872|rs6733674|rs201879622	byFrequency	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:122466739delG	ENST00000419902.1	+	0	637					NR_037857.1																						tttttttgttgtttttttttt	0.458																																						ENST00000419902.1																			0																																																			0							g.chr2:122466739delG																													2.37:g.122466739delG								NR_037857.1						0	637	+									RNA	DEL	ENST00000419902.1	37																																																																																						0.458	AC018737.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000330755.2			3	6						3	6	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187505689	187505689	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:187505689delA	ENST00000261023.3	+	11	1225	c.951delA	c.(949-951)ggafs	p.G317fs	ITGAV_ENST00000433736.2_Frame_Shift_Del_p.G271fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.G281fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	317					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACATTAATGGAGATGAGTAAG	0.289																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(949-951)ggfs		integrin, alpha V							27.0	28.0	28.0					2																	187505689		2195	4276	6471	SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187505689delA		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.951delA	2.37:g.187505689delA	ENSP00000261023:p.Gly317fs					ITGAV_ENST00000433736.2_Frame_Shift_Del_p.G271fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.G281fs	p.G317fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	11	1225	+			317					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	ENST00000261023.3	37	c.951delA	CCDS2292.1																																																																																				0.289	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		2	4						2	4	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	138						9	138	---	---	---	---
HMGB3P22	729595	broad.mit.edu	37	5	179121146	179121152	+	RNA	DEL	AAAAAAA	AAAAAAA	-	rs544126756|rs55708497	byFrequency	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:179121146_179121152delAAAAAAA	ENST00000442010.2	+	0	253									high mobility group box 3 pseudogene 22																		actccgtctcaaaaaaaaaaaaaaaaa	0.483																																						ENST00000442010.2																			0																																																			0							g.chr5:179121146_179121152delAAAAAAA			5q35.3	2011-09-21	2011-04-05		ENSG00000225051	ENSG00000225051		"""High mobility group / HMG-box pseudogenes"""	39314	pseudogene	pseudogene			"""high-mobility group box 3 pseudogene 22"""			12727900	Standard	NG_028953		Approved				OTTHUMG00000163166		5.37:g.179121153_179121159delAAAAAAA														0	253	+									RNA	DEL	ENST00000442010.2	37																																																																																						0.483	HMGB3P22-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000371885.1			2	4						2	4	---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18864349	18864349	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:18864349delC	ENST00000321949.8	+	6	604	c.578delC	c.(577-579)tcafs	p.S193fs	CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S118fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S152fs|CRTC1_ENST00000338797.6_Frame_Shift_Del_p.S209fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GAGACCACATCAGAGGCAGAC	0.453																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(625-627)tafs		CREB regulated transcription coactivator 1							202.0	212.0	209.0					19																	18864349		2203	4300	6503	SO:0001589	frameshift_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18864349delC	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.578delC	19.37:g.18864349delC	ENSP00000323332:p.Ser193fs					CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S118fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S193fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S152fs	p.S209fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			7	651	+			193						Frame_Shift_Del	DEL	ENST00000321949.8	37	c.626delC	CCDS32963.1																																																																																				0.453	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		102	349						102	349	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40042647	40042647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:40042647delA	ENST00000402142.3	+	8	1223	c.1223delA	c.(1222-1224)gagfs	p.E408fs	CACNA1I_ENST00000401624.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000400164.3_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000407673.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000404898.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000336649.4_Frame_Shift_Del_p.E408fs	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	408					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGCAACGGGAGCACCGGCTG	0.612																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1222-1224)ggfs		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						13.0	15.0	14.0					22																	40042647		2102	4230	6332	SO:0001589	frameshift_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40042647delA	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1223delA	22.37:g.40042647delA	ENSP00000385019:p.Glu408fs					CACNA1I_ENST00000407673.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000404898.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000402142.3_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000401624.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000400164.3_Frame_Shift_Del_p.E408fs	p.E408fs			Q9P0X4	CAC1I_HUMAN			10	1223	+	Melanoma(58;0.0749)		408					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Frame_Shift_Del	DEL	ENST00000402142.3	37	c.1223delA	CCDS46710.1																																																																																				0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		2	4						2	4	---	---	---	---
