#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
TRIM24	8805	broad.mit.edu	37	7	138263957	138263957	+	Silent	SNP	T	T	C			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr7:138263957T>C	ENST00000343526.4	+	15	2480	c.2265T>C	c.(2263-2265)taT>taC	p.Y755Y	TRIM24_ENST00000415680.2_Silent_p.Y721Y			O15164	TIF1A_HUMAN	tripartite motif containing 24	755	Nuclear receptor binding site (NRBS).				calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGGCCAATTATCCAAGAAGCA	0.398																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2263-2265)taT>taC		tripartite motif containing 24							63.0	64.0	64.0					7																	138263957		2203	4300	6503	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138263957T>C	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2265T>C	7.37:g.138263957T>C						TRIM24_ENST00000415680.2_Silent_p.Y721Y	p.Y755Y			O15164	TIF1A_HUMAN			15	2480	+			755			Nuclear receptor binding site (NRBS).		A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.2265T>C	CCDS5847.1																																																																																				0.398	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		37	47	0	0	0	1	0	37	47				
ACSM2B	348158	broad.mit.edu	37	16	20576155	20576155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr16:20576155G>A	ENST00000329697.6	-	2	181	c.13C>T	c.(13-15)Cga>Tga	p.R5*	ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.R5*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R5*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGAACTTTTCGCAGCCAATGC	0.493																																						ENST00000329697.6																			1	Substitution - Nonsense(1)	p.R5*(1)	breast(1)	breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(13-15)Cga>Tga		acyl-CoA synthetase medium-chain family member 2B							63.0	62.0	62.0					16																	20576155		2201	4300	6501	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20576155G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.13C>T	16.37:g.20576155G>A	ENSP00000327453:p.Arg5*					ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.R5*	p.R5*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			2	181	-			5					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.13C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680203	0.88542	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	.	.	.	3.27	-3.12	0.05282	.	2.661960	0.01665	N	0.025335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	1.0797	3.5919	0.07991	0.5034:0.0:0.312:0.1846	.	.	.	.	X	5	.	ENSP00000327453:R5X	R	-	1	2	ACSM2B	20483656	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.025000	0.00640	-1.069000	0.03153	-0.362000	0.07510	CGA		0.493	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		31	27	0	0	0	1	0	31	27				
CCDC106	29903	broad.mit.edu	37	19	56160918	56160918	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:56160918A>C	ENST00000586790.1	+	3	1185	c.281A>C	c.(280-282)gAc>gCc	p.D94A	CCDC106_ENST00000591241.1_Missense_Mutation_p.D59A|CCDC106_ENST00000308964.3_Missense_Mutation_p.D94A|CCDC106_ENST00000588740.1_Missense_Mutation_p.D94A|CCDC106_ENST00000591578.1_Missense_Mutation_p.D94A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	94						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCAGCTGGACAAATTCATC	0.602																																						ENST00000586790.1																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(280-282)gAc>gCc		coiled-coil domain containing 106							66.0	62.0	63.0					19																	56160918		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56160918A>C	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.281A>C	19.37:g.56160918A>C	ENSP00000465757:p.Asp94Ala					CCDC106_ENST00000591578.1_Missense_Mutation_p.D94A|CCDC106_ENST00000591241.1_Missense_Mutation_p.D59A|CCDC106_ENST00000308964.3_Missense_Mutation_p.D94A|CCDC106_ENST00000588740.1_Missense_Mutation_p.D94A	p.D94A			Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	3	1185	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	94					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.281A>C	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831729	0.71258	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	L	0.48642	1.525	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.66666	-0.5866	9	0.48119	T	0.1	-33.6562	11.1849	0.48650	1.0:0.0:0.0:0.0	.	94	Q9BWC9	CC106_HUMAN	A	94	.	ENSP00000309681:D94A	D	+	2	0	CCDC106	60852730	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.497000	0.81536	1.556000	0.49512	0.379000	0.24179	GAC		0.602	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		10	3	0	0	0	1	0	10	3				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	50	0	0	0	1	0	5	50				
COL13A1	1305	broad.mit.edu	37	10	71690264	71690264	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr10:71690264G>A	ENST00000398978.3	+	29	2098	c.1606G>A	c.(1606-1608)Gga>Aga	p.G536R	COL13A1_ENST00000398972.3_Missense_Mutation_p.G536R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G514R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G479R|COL13A1_ENST00000356340.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G517R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G536R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G485R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G479R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G536R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G517R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G514R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G514R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G507R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G524R	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AGGGAGCCCAGGAGAGAAGGG	0.632																																						ENST00000356340.3																			0				endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1606-1608)Gga>Aga		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						50.0	63.0	59.0					10																	71690264		1989	4146	6135	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71690264G>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1606G>A	10.37:g.71690264G>A	ENSP00000381949:p.Gly536Arg					COL13A1_ENST00000522165.1_Missense_Mutation_p.G517R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G479R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G524R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G514R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G485R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G517R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G536R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G514R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G507R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G479R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G536R	p.G536R			Q5TAT6	CODA1_HUMAN			28	2142	+			536			Triple-helical region 3 (COL3).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1606G>A	CCDS44419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.53|10.53	1.376013|1.376013	0.24857|0.24857	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133|ENST00000456019	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.99537|.	-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11|.	3.3|3.3	3.3|3.3	0.37823|0.37823	.|.	0.078700|.	0.49305|.	D|.	0.000152|.	D|D	0.90229|0.90229	0.6945|0.6945	H|H	0.99011|0.99011	4.4|4.4	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.998;1.0;0.999;0.999;1.0;0.999;0.999;0.999;1.0;0.999|.	D|D	0.94386|0.94386	0.7609|0.7609	10|5	0.87932|.	D|.	0|.	-4.2058|-4.2058	15.8568|15.8568	0.78983|0.78983	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	479;536;536;536;536;514;517;536;524;536;485;514;514;545;536;517;514;507;536|.	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	R|K	524;536;517;514;507;479;536;536;536;536;514;514;479;514;517;485|19	ENSP00000381946:G524R;ENSP00000381943:G536R;ENSP00000381940:G517R;ENSP00000381938:G514R;ENSP00000381936:G507R;ENSP00000381941:G479R;ENSP00000348695:G536R;ENSP00000381944:G536R;ENSP00000381945:G536R;ENSP00000381949:G536R;ENSP00000346553:G514R;ENSP00000350463:G514R;ENSP00000428057:G479R;ENSP00000430061:G514R;ENSP00000428342:G517R;ENSP00000430173:G485R|.	ENSP00000346553:G514R|.	G|R	+|+	1|2	0|0	COL13A1|COL13A1	71360270|71360270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.710000|0.710000	0.40934|0.40934	5.300000|5.300000	0.65721|0.65721	2.161000|2.161000	0.67846|0.67846	0.561000|0.561000	0.74099|0.74099	GGA|AGG		0.632	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		14	11	0	0	0	1	0	14	11				
KRTAP10-8	386681	broad.mit.edu	37	21	46032420	46032420	+	Missense_Mutation	SNP	G	G	C	rs143687357		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:46032420G>C	ENST00000334662.2	+	1	425	c.403G>C	c.(403-405)Gtg>Ctg	p.V135L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	135	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CGTGTGCTGCGTGTCCATCTG	0.632																																						ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(403-405)Gtg>Ctg		keratin associated protein 10-8							177.0	141.0	153.0					21																	46032420		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032420G>C	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.403G>C	21.37:g.46032420G>C	ENSP00000335565:p.Val135Leu					TSPEAR_ENST00000323084.4_Intron	p.V135L	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	425	+			135			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.403G>C	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	a	0.708	-0.788418	0.02884	.	.	ENSG00000187766	ENST00000334662	T	0.00745	5.75	3.52	-7.03	0.01584	.	.	.	.	.	T	0.01222	0.0040	M	0.85945	2.785	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28004	-1.0057	9	0.29301	T	0.29	.	7.3344	0.26601	0.5969:0.179:0.2241:0.0	.	135	P60410	KR108_HUMAN	L	135	ENSP00000335565:V135L	ENSP00000335565:V135L	V	+	1	0	KRTAP10-8	44856848	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.342000	0.02645	-1.436000	0.01970	-0.643000	0.03959	GTG		0.632	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		79	102	0	0	0	1	0	79	102				
GML	2765	broad.mit.edu	37	8	143922564	143922564	+	Missense_Mutation	SNP	C	C	T	rs138790796		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr8:143922564C>T	ENST00000220940.1	+	3	194	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	35	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGACTGTGCGGTCATAAAT	0.463													c|||	1	0.000199681	0.0	0.0	5008	,	,		24363	0.001		0.0	False		,,,				2504	0.0					ENST00000220940.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18						c.(103-105)gCg>gTg		glycosylphosphatidylinositol anchored molecule like		C	VAL/ALA	1,4405		0,1,2202	199.0	159.0	173.0		104	-6.8	0.0	8	dbSNP_134	173	1,8599		0,1,4299	yes	missense	GML	NM_002066.2	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	35/159	143922564	2,13004	2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143922564C>T	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.104C>T	8.37:g.143922564C>T	ENSP00000220940:p.Ala35Val						p.A35V	NM_002066.2	NP_002057.1	Q99445	GML_HUMAN			3	194	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		35			UPAR/Ly6.		A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.104C>T	CCDS6391.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	0.007	-2.006103	0.00426	2.27E-4	1.16E-4	ENSG00000104499	ENST00000522728;ENST00000220940	T;T	0.21191	2.02;2.02	3.43	-6.85	0.01681	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	3.347490	0.00834	N	0.001691	T	0.10165	0.0249	N	0.14661	0.345	0.09310	N	1	B	0.21905	0.062	B	0.09377	0.004	T	0.10800	-1.0614	10	0.18710	T	0.47	-20.1734	3.7938	0.08732	0.2065:0.4663:0.0943:0.233	.	35	Q99445	GML_HUMAN	V	35	ENSP00000430799:A35V;ENSP00000220940:A35V	ENSP00000220940:A35V	A	+	2	0	GML	143919566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.040000	0.00157	-6.113000	0.00006	-2.245000	0.00285	GCG		0.463	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		4	130	0	0	0	1	0	4	130				
FAM65C	140876	broad.mit.edu	37	20	49236599	49236599	+	Missense_Mutation	SNP	G	G	A	rs148432777		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr20:49236599G>A	ENST00000327979.2	-	3	592	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FAM65C_ENST00000535356.1_Missense_Mutation_p.R65W|FAM65C_ENST00000045083.2_Missense_Mutation_p.R61W			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	61										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCCCTTCCGCAGCGTGCCG	0.547																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(181-183)Cgg>Tgg		family with sequence similarity 65, member C		G	TRP/ARG	0,4406		0,0,2203	103.0	93.0	96.0		181	-0.9	1.0	20	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM65C	NM_080829.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	61/947	49236599	1,13005	2203	4300	6503	SO:0001583	missense	140876							g.chr20:49236599G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.181C>T	20.37:g.49236599G>A	ENSP00000332663:p.Arg61Trp					FAM65C_ENST00000045083.2_Missense_Mutation_p.R61W|FAM65C_ENST00000535356.1_Missense_Mutation_p.R65W	p.R61W			Q96MK2	FA65C_HUMAN			3	592	-			61					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.181C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120374	0.37436	0.0	1.16E-4	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02395	4.31;4.31;4.31	3.93	-0.875	0.10628	.	0.067131	0.56097	D	0.000027	T	0.08223	0.0205	L	0.60455	1.87	0.35344	D	0.786735	D;D	0.76494	0.999;0.999	P;P	0.60886	0.855;0.88	T	0.02546	-1.1143	10	0.72032	D	0.01	-10.5372	11.3192	0.49410	0.0:0.0:0.3683:0.6317	.	65;61	F5H0X2;Q96MK2	.;FA65C_HUMAN	W	61;61;65	ENSP00000332663:R61W;ENSP00000045083:R61W;ENSP00000439802:R65W	ENSP00000045083:R61W	R	-	1	2	FAM65C	48670006	0.973000	0.33851	0.978000	0.43139	0.055000	0.15305	0.385000	0.20685	-0.325000	0.08577	0.561000	0.74099	CGG		0.547	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			56	59	0	0	0	1	0	56	59				
STX3	6809	broad.mit.edu	37	11	59564807	59564807	+	Silent	SNP	T	T	C			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr11:59564807T>C	ENST00000337979.4	+	10	1385	c.838T>C	c.(838-840)Ttg>Ctg	p.L280L	STX3_ENST00000535361.1_Silent_p.L243L|STX3_ENST00000529177.1_Intron|STX3_ENST00000437946.2_Intron|STX3_ENST00000300150.7_Silent_p.L249L	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	280					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CATTTTAGCATTGATTATTGG	0.388																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(727-729)Ttg>Ctg		syntaxin 3							274.0	243.0	253.0					11																	59564807		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59564807T>C	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.838T>C	11.37:g.59564807T>C						STX3_ENST00000337979.4_Silent_p.L280L|STX3_ENST00000529177.1_Intron|STX3_ENST00000437946.2_Intron|STX3_ENST00000300150.7_Silent_p.L249L	p.L243L			Q13277	STX3_HUMAN			9	1274	+			280			t-SNARE coiled-coil homology.		B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.727T>C	CCDS7975.1																																																																																				0.388	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		8	81	0	0	0	1	0	8	81				
CPAMD8	27151	broad.mit.edu	37	19	17015311	17015311	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:17015311G>A	ENST00000443236.1	-	31	4251	c.4220C>T	c.(4219-4221)aCa>aTa	p.T1407I	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1360						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTCAAGAATGTGCCCTTGTC	0.582																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4219-4221)aCa>aTa		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							94.0	101.0	99.0					19																	17015311		2006	4176	6182	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17015311G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4220C>T	19.37:g.17015311G>A	ENSP00000402505:p.Thr1407Ile						p.T1407I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			31	4251	-			1360					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4220C>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.052|4.052	0.007271|0.007271	0.07866|0.07866	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.72|2.72	1.65|1.65	0.23941|0.23941	.|Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.|0.268843	.|0.29073	.|U	.|0.013235	T|T	0.45115|0.45115	0.1326|0.1326	L|L	0.48986|0.48986	1.54|1.54	0.49483|0.49483	D|D	0.999796|0.999796	.|B	.|0.19445	.|0.036	.|B	.|0.16722	.|0.016	T|T	0.25117|0.25117	-1.0141|-1.0141	5|9	.|0.38643	.|T	.|0.18	.|.	5.5458|5.5458	0.17063|0.17063	0.2086:0.1637:0.6276:0.0|0.2086:0.1637:0.6276:0.0	.|.	.|1360	.|Q8IZJ3	.|CPMD8_HUMAN	Y|I	1418|1407	.|.	.|ENSP00000291440:T1407I	H|T	-|-	1|2	0|0	CPAMD8|CPAMD8	16876311|16876311	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	3.253000|3.253000	0.51469|0.51469	0.281000|0.281000	0.22233|0.22233	0.456000|0.456000	0.33151|0.33151	CAT|ACA		0.582	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		25	36	0	0	0	1	0	25	36				
SCAMP3	10067	broad.mit.edu	37	1	155226515	155226515	+	Missense_Mutation	SNP	C	C	T	rs563500300		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr1:155226515C>T	ENST00000302631.3	-	8	954	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	FAM189B_ENST00000472550.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.A257T|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000361361.2_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	283					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGAGCAGGGCGACCAGCAGC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21741	0.0		0.0	False		,,,				2504	0.0					ENST00000355379.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(769-771)Gcc>Acc		secretory carrier membrane protein 3							114.0	85.0	95.0					1																	155226515		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155226515C>T	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.847G>A	1.37:g.155226515C>T	ENSP00000307275:p.Ala283Thr					SCAMP3_ENST00000302631.3_Missense_Mutation_p.A283T|SCAMP3_ENST00000472397.1_5'UTR	p.A257T	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1047	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		283					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.769G>A	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	29.7	5.029663	0.93518	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.18810	2.19;2.19	5.21	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	M	0.64170	1.965	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.69824	0.966;0.942;0.893	T	0.04294	-1.0962	10	0.72032	D	0.01	-11.8828	9.3154	0.37930	0.0:0.7712:0.1465:0.0823	.	283;257;283	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	T	283;257	ENSP00000307275:A283T;ENSP00000347540:A257T	ENSP00000307275:A283T	A	-	1	0	SCAMP3	153493139	0.998000	0.40836	0.810000	0.32431	0.942000	0.58702	3.826000	0.55738	1.418000	0.47098	0.561000	0.74099	GCC		0.582	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		16	30	0	0	0	1	0	16	30				
NEDD8	4738	broad.mit.edu	37	14	24687634	24687634	+	Silent	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr14:24687634G>A	ENST00000250495.5	-	2	208	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|NEDD8_ENST00000524927.1_Silent_p.L8L|NEDD8-MDP1_ENST00000534348.1_Silent_p.L8L|MDP1_ENST00000396833.2_5'Flank|MDP1_ENST00000532557.1_5'Flank|MDP1_ENST00000288087.7_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	8		Interaction with UBE1C.			anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TTTCCGGTCAGCGTCTGAAAC	0.423																																						ENST00000250495.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(22-24)Ctg>Ttg		neural precursor cell expressed, developmentally down-regulated 8							223.0	187.0	199.0					14																	24687634		2203	4300	6503	SO:0001819	synonymous_variant	4738							g.chr14:24687634G>A	D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.22C>T	14.37:g.24687634G>A						NEDD8_ENST00000524927.1_Silent_p.L8L|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Silent_p.L8L	p.L8L	NM_006156.2	NP_006147.1				GBM - Glioblastoma multiforme(265;0.0186)	2	208	-								Q3SXN8|Q6LES6	Silent	SNP	ENST00000250495.5	37	c.22C>T	CCDS9621.1																																																																																				0.423	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2	NM_006156		3	23	0	0	0	1	0	3	23				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	59	0	0	0	1	0	27	59				
FGD2	221472	broad.mit.edu	37	6	36989372	36989372	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr6:36989372G>A	ENST00000274963.8	+	12	1489	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	440					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGACATCCAGGAGCAGGAGGT	0.557											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1318-1320)Gag>Aag		FYVE, RhoGEF and PH domain containing 2							47.0	45.0	46.0					6																	36989372		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36989372G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1318G>A	6.37:g.36989372G>A	ENSP00000274963:p.Glu440Lys		OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	867		p.E440K	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			12	1489	+			440					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1318G>A	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522988	0.27211	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.59083	0.29	5.25	5.25	0.73442	.	0.162210	0.29660	N	0.011538	T	0.29588	0.0738	N	0.19112	0.55	0.38866	D	0.956586	P	0.37781	0.608	B	0.35413	0.202	T	0.23691	-1.0181	10	0.38643	T	0.18	-9.3499	15.7578	0.78051	0.0:0.0:1.0:0.0	.	440	Q7Z6J4	FGD2_HUMAN	K	440;68	ENSP00000274963:E440K	ENSP00000274963:E440K	E	+	1	0	FGD2	37097350	1.000000	0.71417	0.911000	0.35937	0.309000	0.27889	6.346000	0.72999	2.460000	0.83146	0.561000	0.74099	GAG		0.557	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		9	9	0	0	0	1	0	9	9				
ANO7	50636	broad.mit.edu	37	2	242135327	242135327	+	Intron	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr2:242135327G>A	ENST00000274979.8	+	4	574				ANO7_ENST00000402530.3_Missense_Mutation_p.A179T|ANO7_ENST00000402430.3_Intron	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7						calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGACCTTGCCGCATGAGGCCT	0.632																																						ENST00000402530.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(535-537)Gca>Aca		anoctamin 7							60.0	58.0	59.0					2																	242135327		1327	2309	3636	SO:0001627	intron_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135327G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.471+67G>A	2.37:g.242135327G>A						ANO7_ENST00000402430.3_Intron|ANO7_ENST00000274979.8_Intron	p.A179T	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN			4	638	+			0					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.535G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	2.096	-0.407212	0.04832	.	.	ENSG00000146205	ENST00000402530	T	0.50277	0.75	1.11	-0.958	0.10347	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.09310	N	1	P	0.34826	0.471	B	0.16722	0.016	T	0.12708	-1.0537	8	0.87932	D	0	.	3.1367	0.06441	0.2871:0.4105:0.3024:0.0	.	179	Q6IWH7-2	.	T	179	ENSP00000383985:A179T	ENSP00000383985:A179T	A	+	1	0	ANO7	241784000	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-0.382000	0.07870	-1.545000	0.00906	GCA		0.632	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		12	15	0	0	0	1	0	12	15				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	31	0	0	0	1	0	5	31				
TNFAIP8	25816	broad.mit.edu	37	5	118728917	118728917	+	Silent	SNP	C	C	T			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr5:118728917C>T	ENST00000503646.1	+	3	1126	c.438C>T	c.(436-438)caC>caT	p.H146H	TNFAIP8_ENST00000504771.2_Silent_p.H146H|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Silent_p.H158H|TNFAIP8_ENST00000504642.1_Silent_p.H148H|TNFAIP8_ENST00000274456.6_Silent_p.H136H			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	146					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		TTCAGCGCCACCTCACTGCCA	0.408																																						ENST00000504771.2																			0				ovary(1)	1						c.(436-438)caC>caT		tumor necrosis factor, alpha-induced protein 8							111.0	112.0	112.0					5																	118728917		1990	4193	6183	SO:0001819	synonymous_variant	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728917C>T	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.438C>T	5.37:g.118728917C>T						TNFAIP8_ENST00000274456.6_Silent_p.H136H|TNFAIP8_ENST00000504642.1_Silent_p.H148H|TNFAIP8_ENST00000503646.1_Silent_p.H146H|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Silent_p.H158H	p.H146H	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	2	2215	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	146					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Silent	SNP	ENST00000503646.1	37	c.438C>T	CCDS47258.1																																																																																				0.408	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		34	57	0	0	0	1	0	34	57				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			7	23	0	0	0	1	0	7	23				
CDH4	1002	broad.mit.edu	37	20	60427938	60427938	+	Silent	SNP	C	C	T	rs2229574	byFrequency	TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCGTGGACGAGGGCTCCA	0.597													C|||	10	0.00199681	0.0	0.0043	5008	,	,		19177	0.001		0.005	False		,,,				2504	0.001					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(859-861)gaC>gaT		cadherin 4, type 1, R-cadherin (retinal)		C		4,4402	8.1+/-20.4	0,4,2199	203.0	165.0	178.0		861	1.1	1.0	20	dbSNP_134	178	51,8549	33.3+/-86.6	0,51,4249	no	coding-synonymous	CDH4	NM_001794.2		0,55,6448	TT,TC,CC		0.593,0.0908,0.4229		287/917	60427938	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60427938C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.861C>T	20.37:g.60427938C>T						CDH4_ENST00000543233.1_Silent_p.D213D	p.D287D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		6	949	+			287			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.861C>T	CCDS13488.1																																																																																				0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		43	86	0	0	0	1	0	43	86				
FCRL2	79368	broad.mit.edu	37	1	157737385	157737385	+	Intron	SNP	C	C	T			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr1:157737385C>T	ENST00000361516.3	-	6	932				FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000469986.1_Silent_p.R13R	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2						cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCAAAGGGCCTGGCCCCAT	0.448																																						ENST00000469986.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(37-39)agG>agA		Fc receptor-like 2							69.0	77.0	75.0					1																	157737385		2203	4300	6503	SO:0001627	intron_variant	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157737385C>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.884-86G>A	1.37:g.157737385C>T						FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000361516.3_Intron|FCRL2_ENST00000368181.4_Intron	p.R13R			Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		1	179	-	all_hematologic(112;0.0378)		0					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	c.39G>A	CCDS1168.1																																																																																				0.448	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		47	39	0	0	0	1	0	47	39				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	38	0	0	0	1	0	3	38				
FAM3B	54097	broad.mit.edu	37	21	42694893	42694893	+	Silent	SNP	C	C	G			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:42694893C>G	ENST00000357985.2	+	2	209	c.63C>G	c.(61-63)gcC>gcG	p.A21A	FAM3B_ENST00000398646.3_Silent_p.A44A|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398652.3_Silent_p.A60A|FAM3B_ENST00000479810.2_3'UTR	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	21					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCTTGTGTGCCTGGTATTCGG	0.607																																						ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(178-180)gcC>gcG		family with sequence similarity 3, member B							217.0	160.0	179.0					21																	42694893		2203	4300	6503	SO:0001819	synonymous_variant	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42694893C>G	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.63C>G	21.37:g.42694893C>G						FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.A44A|FAM3B_ENST00000357985.2_Silent_p.A21A	p.A60A			P58499	FAM3B_HUMAN			3	246	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	21						Silent	SNP	ENST00000357985.2	37	c.180C>G	CCDS13671.1																																																																																				0.607	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		35	36	0	0	0	1	0	35	36				
GRIN1	2902	broad.mit.edu	37	9	140062230	140062230	+	3'UTR	SNP	A	A	G			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr9:140062230A>G	ENST00000371561.3	+	0	4165				GRIN1_ENST00000371550.4_3'UTR|GRIN1_ENST00000315048.3_Missense_Mutation_p.Y902C|GRIN1_ENST00000371546.4_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.Y865C|GRIN1_ENST00000371560.3_Missense_Mutation_p.Y886C|RP11-350O14.18_ENST00000568665.1_RNA|GRIN1_ENST00000371555.4_3'UTR|MIR3621_ENST00000580529.1_RNA|GRIN1_ENST00000371553.3_Missense_Mutation_p.Y923C	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1						adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGCAGCAGTACCATCCCACT	0.682																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000315048.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(2704-2706)tAc>tGc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						51.0	60.0	57.0					9																	140062230		1948	4132	6080	SO:0001624	3_prime_UTR_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140062230A>G		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.*251A>G	9.37:g.140062230A>G						GRIN1_ENST00000371553.3_Missense_Mutation_p.Y923C|GRIN1_ENST00000371555.4_3'UTR|GRIN1_ENST00000371550.4_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.Y886C|GRIN1_ENST00000371561.3_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.Y865C|GRIN1_ENST00000371546.4_3'UTR	p.Y902C			Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	20	3802	+	all_cancers(76;0.0926)		0					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.2705A>G	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308416	0.60305	.	.	ENSG00000176884	ENST00000315048;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T	0.72835	-0.63;-0.4;-0.69;-0.47	3.66	3.66	0.41972	.	.	.	.	.	T	0.58323	0.2114	N	0.08118	0	0.40200	D	0.977504	D;D;D	0.59357	0.975;0.983;0.985	P;P;P	0.52267	0.498;0.613;0.694	T	0.61402	-0.7070	9	0.41790	T	0.15	.	10.2919	0.43601	1.0:0.0:0.0:0.0	.	886;923;865	Q5VSF4;Q5VSF5;Q05586-2	.;.;.	C	902;923;865;886	ENSP00000316696:Y902C;ENSP00000360608:Y923C;ENSP00000360614:Y865C;ENSP00000360615:Y886C	ENSP00000316696:Y902C	Y	+	2	0	GRIN1	139182051	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.304000	0.59104	1.546000	0.49388	0.459000	0.35465	TAC		0.682	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		3	39	0	0	0	1	0	3	39				
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr6:29761676C>G	ENST00000457107.1	+	0	902									major histocompatibility complex, class I, V (pseudogene)																		gagagggtttcatattcaaga	0.493																																						ENST00000457107.1																			0																																																			0							g.chr6:29761676C>G	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761676C>G														0	902	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.493	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		3	20	0	0	0	1	0	3	20				
LRRK1	79705	broad.mit.edu	37	15	101528897	101528897	+	Silent	SNP	G	G	A	rs183858799		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr15:101528897G>A	ENST00000388948.3	+	5	851	c.492G>A	c.(490-492)ggG>ggA	p.G164G	LRRK1_ENST00000284395.5_Silent_p.G161G|LRRK1_ENST00000532029.2_Silent_p.G164G	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAGCGAGGGCACCTGGGGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17180	0.0		0.001	False		,,,				2504	0.0					ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(481-483)ggG>ggA		leucine-rich repeat kinase 1							71.0	75.0	73.0					15																	101528897		2011	4165	6176	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528897G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.492G>A	15.37:g.101528897G>A						LRRK1_ENST00000388948.3_Silent_p.G164G|LRRK1_ENST00000532029.2_Silent_p.G164G	p.G161G			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	883	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		164						Silent	SNP	ENST00000388948.3	37	c.483G>A	CCDS42086.1																																																																																				0.627	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		56	57	0	0	0	1	0	56	57				
LCP1	3936	broad.mit.edu	37	13	46717525	46717525	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr13:46717525G>A	ENST00000398576.2	-	15	1656	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	LCP1_ENST00000435666.2_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.A423V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	423	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GATGACCAGGGCATCTGATAA	0.413			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1267-1269)gCc>gTc		lymphocyte cytosolic protein 1 (L-plastin)							118.0	106.0	110.0					13																	46717525		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46717525G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1268C>T	13.37:g.46717525G>A	ENSP00000381581:p.Ala423Val					LCP1_ENST00000323076.2_Missense_Mutation_p.A423V	p.A423V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	15	1656	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	423			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1268C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551926	0.96501	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.95518	-3.73;-3.73	5.65	5.65	0.86999	Calponin homology domain (5);	0.047990	0.85682	D	0.000000	D	0.96880	0.8981	M	0.69823	2.125	0.80722	D	1	P	0.39831	0.69	P	0.52189	0.692	D	0.97148	0.9829	10	0.87932	D	0	-14.9553	18.7084	0.91646	0.0:0.0:1.0:0.0	.	423	P13796	PLSL_HUMAN	V	423	ENSP00000315757:A423V;ENSP00000381581:A423V	ENSP00000315757:A423V	A	-	2	0	LCP1	45615526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.660000	0.90430	0.555000	0.69702	GCC		0.413	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		3	58	0	0	0	1	0	3	58				
SMARCA4	6597	broad.mit.edu	37	19	11134287	11134287	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:11134287G>A	ENST00000429416.3	+	21	3234	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E985K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E985K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E985K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E985K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	985					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGAAGTCGAGGCCCAGTT	0.592			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2953-2955)Gag>Aag		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							45.0	42.0	43.0					19																	11134287		2202	4300	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11134287G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2953G>A	19.37:g.11134287G>A	ENSP00000395654:p.Glu985Lys					SMARCA4_ENST00000344626.4_Missense_Mutation_p.E985K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E985K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E985K	p.E985K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			20	3237	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	985					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2953G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464052	0.96257	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	L	0.58925	1.835	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.988;0.988;0.988;0.992;0.962;0.998;0.988;0.988	D	0.96239	0.9174	10	0.87932	D	0	-38.3625	16.9975	0.86372	0.0:0.0:1.0:0.0	.	985;985;985;985;985;205;985;985	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	K	985;985;1049;985;985;985;985;985	ENSP00000395654:E985K;ENSP00000350720:E985K;ENSP00000343896:E985K;ENSP00000445036:E985K;ENSP00000392837:E985K;ENSP00000397783:E985K;ENSP00000414727:E985K	ENSP00000343896:E985K	E	+	1	0	SMARCA4	10995287	1.000000	0.71417	0.930000	0.37139	0.933000	0.57130	9.411000	0.97342	2.542000	0.85734	0.655000	0.94253	GAG		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	10	0	0	0	1	0	8	10				
CLUH	23277	broad.mit.edu	37	17	2594051	2594051	+	Missense_Mutation	SNP	A	A	T			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr17:2594051A>T	ENST00000570628.2	-	26	3872	c.3767T>A	c.(3766-3768)cTg>cAg	p.L1256Q	CLUH_ENST00000538975.1_Missense_Mutation_p.L1256Q|RP11-74E22.6_ENST00000608984.1_lincRNA|CLUH_ENST00000435359.1_Missense_Mutation_p.L1256Q			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1256					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CTCGGCTTTCAGATTCTCCAG	0.662																																						ENST00000570628.1																			0											c.(3766-3768)cTg>cAg		clustered mitochondria (cluA/CLU1) homolog							27.0	30.0	29.0					17																	2594051		1880	4108	5988	SO:0001583	missense	23277							g.chr17:2594051A>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3767T>A	17.37:g.2594051A>T	ENSP00000458986:p.Leu1256Gln					CLUH_ENST00000575014.1_Missense_Mutation_p.L1189Q|CLUH_ENST00000538975.1_Missense_Mutation_p.L1256Q|CLUH_ENST00000435359.1_Missense_Mutation_p.L1256Q	p.L1256Q							26	3872	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.3767T>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836634	0.71373	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.82619	-1.63;-1.63	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000008	D	0.88157	0.6361	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	P;D	0.65010	0.825;0.931	D	0.87953	0.2725	10	0.44086	T	0.13	.	13.5161	0.61541	1.0:0.0:0.0:0.0	.	1256;1257	O75153;C9J6D7	K0664_HUMAN;.	Q	1256;1257;1256	ENSP00000388872:L1256Q;ENSP00000439628:L1256Q	ENSP00000320468:L1257Q	L	-	2	0	KIAA0664	2540801	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.660000	0.68018	1.920000	0.55613	0.482000	0.46254	CTG		0.662	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		4	52	0	0	0	1	0	4	52				
OSTCP1	202459	broad.mit.edu	37	6	159262511	159262512	+	RNA	INS	-	-	A			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr6:159262511_159262512insA	ENST00000522287.1	-	0	831_832					NR_028496.1				oligosaccharyltransferase complex subunit pseudogene 1																		GTCAGCAGGGGAAAAAAAAATA	0.332																																						ENST00000522287.1																			0																																																			0							g.chr6:159262511_159262512insA	BC024224		6q25.3	2011-09-02	2011-09-02	2011-09-02	ENSG00000243775	ENSG00000243775			30530	pseudogene	pseudogene	"""DC2 protein-like"""		"""oligosaccharyltransferase complex subunit-like"""	OSTCL		12477932	Standard	NR_028496		Approved	DC2L	uc003qrw.4		OTTHUMG00000015919		6.37:g.159262520_159262520dupA								NR_028496.1						0	831_832	-									RNA	INS	ENST00000522287.1	37																																																																																						0.332	OSTCP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042884.2	NM_145303		2	4						2	4	---	---	---	---
AC005077.5	0	broad.mit.edu	37	7	75804672	75804673	+	RNA	INS	-	-	A	rs577982009		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr7:75804672_75804673insA	ENST00000437494.1	+	0	57																											catctcgaaccaaaaaaaaaag	0.545																																						ENST00000437494.1																			0																																																			0							g.chr7:75804672_75804673insA																													7.37:g.75804682_75804682dupA														0	57	+									RNA	INS	ENST00000437494.1	37																																																																																						0.545	AC005077.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344669.1			2	4						2	4	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102737945	102737945	+	RNA	DEL	A	A	-	rs28381681|rs576323391|rs61100998	byFrequency	TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GTTTTCTGACAAAAAAAATTT	0.338													?|AAAAAAAA|AAAAAAA|unsure	1399	0.279353	0.3699	0.3112	5008	,	,		20993	0.371		0.1819	False		,,,				2504	0.1401					ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102737945delA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102737945delA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1007	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	ENST00000532855.1	37																																																																																						0.338	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		6	0						6	0	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	4						4	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11049382	11049382	+	RNA	DEL	T	T	-			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:11049382delT	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACACAAACTTTTAGCGCCT	0.333																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11049382delT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049382delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.333	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		14	200						14	200	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49062190	49062190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chrX:49062190delC	ENST00000376265.2	-	47	5650	c.5589delG	c.(5587-5589)gggfs	p.G1863fs	AF196779.1_ENST00000583131.1_RNA|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.G1852fs|CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.G1798fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1863					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCGAGGTACCCCTCCCCCG	0.647																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5587-5589)ggfs		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						41.0	32.0	35.0					X																	49062190		2203	4298	6501	SO:0001589	frameshift_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49062190delC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5589delG	X.37:g.49062190delC	ENSP00000365441:p.Gly1863fs					CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.G1798fs|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.G1852fs	p.G1863fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			47	5650	-			1863					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Frame_Shift_Del	DEL	ENST00000376265.2	37	c.5589delG	CCDS35253.1																																																																																				0.647	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		8	2						8	2	---	---	---	---
