#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
ADAMTS9	56999	broad.mit.edu	37	3	64619453	64619453	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:64619453C>A	ENST00000498707.1	-	13	2301	c.1959G>T	c.(1957-1959)caG>caT	p.Q653H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q625H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	653	Cys-rich.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGTGAGCACACTGTTCATCTC	0.453																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(1957-1959)caG>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 9							186.0	166.0	173.0					3																	64619453		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64619453C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1959G>T	3.37:g.64619453C>A	ENSP00000418735:p.Gln653His					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q625H	p.Q653H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	13	2301	-		Lung NSC(201;0.00682)	653			Cys-rich.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.1959G>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140416	0.77775	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.05382	3.45;3.45	5.51	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	H	0.95816	3.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.44574	-0.9319	10	0.87932	D	0	.	12.3511	0.55148	0.0:0.8761:0.0:0.1239	.	625;653;653;653	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	H	625;653	ENSP00000295903:Q625H;ENSP00000418735:Q653H	ENSP00000295903:Q625H	Q	-	3	2	ADAMTS9	64594493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.106000	0.50322	2.600000	0.87896	0.655000	0.94253	CAG		0.453	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			16	151	1	0	6.31663e-08	1	6.99341e-08	16	151				
BFAR	51283	broad.mit.edu	37	16	14761536	14761536	+	Missense_Mutation	SNP	C	C	T	rs547915921		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:14761536C>T	ENST00000261658.2	+	8	1482	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	BFAR_ENST00000563971.1_Missense_Mutation_p.T277M|BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.T274M	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	402					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AAAGTATCAACGCAGGGGCTT	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18312	0.0		0.0	False		,,,				2504	0.0					ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(1204-1206)aCg>aTg		bifunctional apoptosis regulator							141.0	139.0	140.0					16																	14761536		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14761536C>T	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1205C>T	16.37:g.14761536C>T	ENSP00000261658:p.Thr402Met					BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M	p.T402M	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			8	1482	+			402					A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.1205C>T	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787573	0.90367	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.49720	3.11;0.77	5.69	5.69	0.88448	.	0.054362	0.85682	D	0.000000	T	0.56062	0.1960	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.64506	0.849;0.926;0.926	T	0.60219	-0.7306	10	0.87932	D	0	.	18.7875	0.91961	0.0:1.0:0.0:0.0	.	274;402;402	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	M	402;274	ENSP00000261658:T402M;ENSP00000400634:T274M	ENSP00000261658:T402M	T	+	2	0	BFAR	14669037	1.000000	0.71417	0.720000	0.30636	0.982000	0.71751	5.799000	0.69101	2.673000	0.90976	0.563000	0.77884	ACG		0.488	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		22	94	0	0	0	1	0	22	94				
FUT5	2527	broad.mit.edu	37	19	5867413	5867413	+	Silent	SNP	G	G	A	rs148489400	byFrequency	TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:5867413G>A	ENST00000588525.1	-	2	411	c.324C>T	c.(322-324)gcC>gcT	p.A108A	FUT5_ENST00000252675.5_Silent_p.A108A	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	108					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CACTGGAGTCGGCAGTGATGT	0.642													G|||	26	0.00519169	0.0	0.0014	5008	,	,		16160	0.0238		0.0	False		,,,				2504	0.001					ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(322-324)gcC>gcT		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							65.0	60.0	62.0					19																	5867413		2203	4300	6503	SO:0001819	synonymous_variant	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867413G>A		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.324C>T	19.37:g.5867413G>A						FUT5_ENST00000588525.1_Silent_p.A108A	p.A108A			Q11128	FUT5_HUMAN			5	886	-			108					A8K4X2	Silent	SNP	ENST00000588525.1	37	c.324C>T	CCDS12154.1																																																																																				0.642	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		4	76	0	0	0	1	0	4	76				
RAB37	326624	broad.mit.edu	37	17	72733183	72733183	+	5'Flank	SNP	C	C	A	rs569982744	byFrequency	TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr17:72733183C>A	ENST00000392613.5	+	0	0				RAB37_ENST00000528438.1_Intron|RAB37_ENST00000392612.3_5'Flank|RAB37_ENST00000392610.1_5'Flank|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.P12Q|RAB37_ENST00000392615.5_Missense_Mutation_p.P12Q|RAB37_ENST00000402449.4_Intron	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAGCCGAGCCGGTGTTGCTC	0.731													C|||	3	0.000599042	0.0	0.0	5008	,	,		9768	0.003		0.0	False		,,,				2504	0.0					ENST00000392614.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(34-36)cCg>cAg		RAB37, member RAS oncogene family							13.0	16.0	15.0					17																	72733183		1552	3559	5111	SO:0001631	upstream_gene_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72733183C>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282		17.37:g.72733183C>A	Exception_encountered					RAB37_ENST00000528438.1_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Missense_Mutation_p.P12Q	p.P12Q	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN			1	128	+			0					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.35C>A	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899580	0.33535	.	.	ENSG00000172794	ENST00000392615;ENST00000392614	T;T	0.63255	0.42;-0.03	3.3	2.31	0.28768	.	0.553774	0.17838	N	0.160319	T	0.56426	0.1984	.	.	.	0.20074	N	0.999938	P;P	0.43519	0.809;0.662	P;B	0.45343	0.477;0.187	T	0.51092	-0.8749	9	0.72032	D	0.01	.	5.7954	0.18383	0.0:0.8482:0.0:0.1518	.	12;12	A8MZI4;A8MYT0	.;.	Q	12	ENSP00000376391:P12Q;ENSP00000376390:P12Q	ENSP00000376390:P12Q	P	+	2	0	RAB37	70244778	0.042000	0.20092	0.001000	0.08648	0.004000	0.04260	1.923000	0.40055	0.943000	0.37553	0.462000	0.41574	CCG		0.731	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		3	20	1	0	0.150653	1	0.155675	3	20				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	0							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		9	126	0	0	0	1	0	9	126				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	40	0	0	0	1	0	5	40				
RNF186	54546	broad.mit.edu	37	1	20141059	20141059	+	Missense_Mutation	SNP	C	C	T	rs202025693		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr1:20141059C>T	ENST00000375121.2	-	1	712	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	179						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCACCCATCGTAAGACACC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		19152	0.001		0.0	False		,,,				2504	0.0					ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(535-537)cGa>cAa		ring finger protein 186							75.0	82.0	80.0					1																	20141059		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141059C>T		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.536G>A	1.37:g.20141059C>T	ENSP00000364263:p.Arg179Gln					RP11-91K11.2_ENST00000454736.1_RNA	p.R179Q	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	712	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	179					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.536G>A	CCDS199.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.00	2.403681	0.42613	.	.	ENSG00000178828	ENST00000375121	T	0.32272	1.46	5.81	1.95	0.26073	.	0.179491	0.27253	N	0.020206	T	0.21022	0.0506	L	0.46157	1.445	0.19575	N	0.999964	P	0.36647	0.563	B	0.28465	0.09	T	0.14282	-1.0478	10	0.72032	D	0.01	-12.7825	7.2504	0.26146	0.0:0.6081:0.0:0.3919	.	179	Q9NXI6	RN186_HUMAN	Q	179	ENSP00000364263:R179Q	ENSP00000364263:R179Q	R	-	2	0	RNF186	20013646	0.014000	0.17966	0.585000	0.28666	0.887000	0.51463	0.401000	0.20948	0.393000	0.25203	0.655000	0.94253	CGA		0.642	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		5	59	0	0	0	1	0	5	59				
TREX1	11277	broad.mit.edu	37	3	48508910	48508910	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:48508910G>A	ENST00000422277.2	+	1	1682	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	TREX1_ENST00000433541.1_Missense_Mutation_p.G147R|TREX1_ENST00000296443.9_Missense_Mutation_p.G286R|TREX1_ENST00000456089.1_Missense_Mutation_p.G147R|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Missense_Mutation_p.G286R|TREX1_ENST00000444177.1_Missense_Mutation_p.G276R	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	341	Interaction with UBQLN1.|Necessary for cytoplasmic retention. {ECO:0000250}.|Necessary for endoplasmic reticulum localization. {ECO:0000250}.				cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCCAGGGAGGGGCTGCTGGC	0.607																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(856-858)Ggg>Agg		three prime repair exonuclease 1							53.0	58.0	56.0					3																	48508910		2203	4300	6503	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508910G>A	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.1021G>A	3.37:g.48508910G>A	ENSP00000390478:p.Gly341Arg					TREX1_ENST00000422277.2_Missense_Mutation_p.G341R|TREX1_ENST00000433541.1_Missense_Mutation_p.G147R|TREX1_ENST00000436480.2_Missense_Mutation_p.G286R|TREX1_ENST00000444177.1_Missense_Mutation_p.G276R|TREX1_ENST00000456089.1_Missense_Mutation_p.G147R	p.G286R			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1743	+			341					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.856G>A	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545582	0.45280	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	T;T;T;T;T;T	0.46819	1.47;0.86;1.47;1.43;1.47;0.86	4.5	1.67	0.24075	.	.	.	.	.	T	0.43255	0.1239	M	0.63428	1.95	0.09310	N	1	B	0.22683	0.073	B	0.23018	0.043	T	0.43507	-0.9387	9	0.72032	D	0.01	.	7.3865	0.26884	0.3037:0.0:0.6963:0.0	.	341	Q9NSU2	TREX1_HUMAN	R	286;147;286;341;276;147	ENSP00000296443:G286R;ENSP00000412404:G147R;ENSP00000392569:G286R;ENSP00000390478:G341R;ENSP00000415972:G276R;ENSP00000411331:G147R	ENSP00000296443:G286R	G	+	1	0	TREX1	48483914	0.999000	0.42202	0.141000	0.22245	0.066000	0.16364	1.773000	0.38563	0.456000	0.26937	-1.002000	0.02502	GGG		0.607	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		5	62	0	0	0	1	0	5	62				
RYR1	6261	broad.mit.edu	37	19	38991503	38991503	+	Missense_Mutation	SNP	C	C	T	rs193922817		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:38991503C>T	ENST00000359596.3	+	47	7487	c.7487C>T	c.(7486-7488)cCg>cTg	p.P2496L	RYR1_ENST00000360985.3_Missense_Mutation_p.P2496L|RYR1_ENST00000355481.4_Missense_Mutation_p.P2496L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2496	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCTTCGTGCCGGACCACAAG	0.642																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM064207	RYR1	M		c.(7486-7488)cCg>cTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						100.0	68.0	79.0					19																	38991503		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38991503C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7487C>T	19.37:g.38991503C>T	ENSP00000352608:p.Pro2496Leu					RYR1_ENST00000359596.3_Missense_Mutation_p.P2496L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2496L	p.P2496L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		47	7618	+	all_cancers(60;7.91e-06)		2496			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7487C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423825	0.62733	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93659	-3.26;-3.26;-3.26	4.17	4.17	0.49024	.	0.000000	0.64402	U	0.000002	D	0.96747	0.8938	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97520	1.0072	10	0.87932	D	0	.	15.4029	0.74855	0.0:1.0:0.0:0.0	.	2496;2496	P21817-2;P21817	.;RYR1_HUMAN	L	2496	ENSP00000352608:P2496L;ENSP00000347667:P2496L;ENSP00000354254:P2496L	ENSP00000347667:P2496L	P	+	2	0	RYR1	43683343	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	7.621000	0.83083	2.142000	0.66516	0.491000	0.48974	CCG		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	44	0	0	0	1	0	7	44				
KCNJ4	3761	broad.mit.edu	37	22	38823832	38823832	+	Silent	SNP	A	A	C			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr22:38823832A>C	ENST00000303592.3	-	2	564	c.306T>G	c.(304-306)ggT>ggG	p.G102G	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	102	Poly-Gly.|Val/Gly/Ala/Pro stretch.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTCCGCCACCAcccgccgccg	0.687																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(304-306)ggT>ggG		potassium inwardly-rectifying channel, subfamily J, member 4							27.0	26.0	26.0					22																	38823832		2199	4298	6497	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823832A>C	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.306T>G	22.37:g.38823832A>C							p.G102G	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	564	-	Melanoma(58;0.0286)		102			Poly-Gly.|Val/Gly/Ala/Pro stretch.		Q14D44	Silent	SNP	ENST00000303592.3	37	c.306T>G	CCDS13971.1																																																																																				0.687	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		9	26	0	0	0	1	0	9	26				
PLEKHM1P	440456	broad.mit.edu	37	17	62817956	62817956	+	RNA	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr17:62817956G>A	ENST00000582986.1	-	0	542					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										TGGGCTCCTCGCAATGGTCTG	0.562																																						ENST00000582986.1																			0																																																			0							g.chr17:62817956G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62817956G>A								NR_024386.1						0	542	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.562	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		3	33	0	0	0	1	0	3	33				
SENP2	59343	broad.mit.edu	37	3	185327074	185327074	+	Silent	SNP	T	T	C			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:185327074T>C	ENST00000296257.5	+	7	898	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	SENP2_ENST00000545472.1_Silent_p.L210L|SENP2_ENST00000427465.2_Silent_p.L44L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	220					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCGAAAGTTATTGGAACGACT	0.358																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(658-660)Ttg>Ctg		SUMO1/sentrin/SMT3 specific peptidase 2							114.0	115.0	115.0					3																	185327074		2203	4300	6503	SO:0001819	synonymous_variant	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185327074T>C	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.658T>C	3.37:g.185327074T>C						SENP2_ENST00000427465.2_Silent_p.L44L|SENP2_ENST00000545472.1_Silent_p.L210L	p.L220L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		7	898	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		220					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	c.658T>C	CCDS33902.1																																																																																				0.358	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		7	74	0	0	0	1	0	7	74				
OR2C1	4993	broad.mit.edu	37	16	3406386	3406386	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:3406386G>C	ENST00000304936.2	+	1	498	c.446G>C	c.(445-447)tGc>tCc	p.C149S		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	149			C -> W (in dbSNP:rs1218763). {ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9847080, ECO:0000269|Ref.3}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGATTGCCTGCCTGGGTGGC	0.617																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(445-447)tGc>tCc		olfactory receptor, family 2, subfamily C, member 1							46.0	45.0	45.0					16																	3406386		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406386G>C	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.446G>C	16.37:g.3406386G>C	ENSP00000307726:p.Cys149Ser						p.C149S	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	498	+			149		C -> W (in dbSNP:rs1218763).			A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.446G>C	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	g	7.727	0.698366	0.15106	.	.	ENSG00000168158	ENST00000304936	T	0.36699	1.24	4.63	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.206583	0.24628	N	0.036918	T	0.35098	0.0920	L	0.48362	1.52	0.26221	N	0.979154	B	0.14012	0.009	B	0.29267	0.1	T	0.39941	-0.9589	10	0.87932	D	0	.	12.0047	0.53252	0.0:0.0:0.8265:0.1735	.	149	O95371	OR2C1_HUMAN	S	149	ENSP00000307726:C149S	ENSP00000307726:C149S	C	+	2	0	OR2C1	3346387	0.995000	0.38212	0.921000	0.36526	0.357000	0.29423	2.135000	0.42112	1.155000	0.42497	0.509000	0.49947	TGC		0.617	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			8	74	0	0	0	1	0	8	74				
ADPGK	83440	broad.mit.edu	37	15	73044692	73044692	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr15:73044692G>A	ENST00000311669.8	-	7	1574	c.1481C>T	c.(1480-1482)cCt>cTt	p.P494L	ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	495	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTAATAGTGAGGGTGTACTTC	0.433																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1480-1482)cCt>cTt		ADP-dependent glucokinase							41.0	39.0	40.0					15																	73044692		1838	4086	5924	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73044692G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1481C>T	15.37:g.73044692G>A	ENSP00000312250:p.Pro494Leu					ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L	p.P494L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1574	-			495			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1481C>T	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255531	0.80135	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471	T	0.44881	0.91	5.63	4.72	0.59763	.	0.276116	0.43919	D	0.000515	T	0.26629	0.0651	N	0.22421	0.69	0.43448	D	0.995634	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.002	T	0.06463	-1.0825	10	0.09338	T	0.73	-10.1017	12.5046	0.55973	0.1385:0.0:0.8615:0.0	.	437;495;494;220	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	L	494;414;220	ENSP00000312250:P494L	ENSP00000312250:P494L	P	-	2	0	ADPGK	70831745	1.000000	0.71417	0.033000	0.17914	0.551000	0.35334	4.948000	0.63590	1.390000	0.46547	-0.136000	0.14681	CCT		0.433	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		5	33	0	0	0	1	0	5	33				
SH2D7	646892	broad.mit.edu	37	15	78393483	78393483	+	Silent	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr15:78393483G>A	ENST00000328828.5	+	5	888	c.888G>A	c.(886-888)ggG>ggA	p.G296G	SH2D7_ENST00000409568.2_Silent_p.G160G	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	296										endometrium(2)|kidney(2)|lung(3)	7						ATGGCCTGGGGCCTGTCCTTT	0.637																																						ENST00000328828.5																			0				endometrium(2)|kidney(2)|lung(3)	7						c.(886-888)ggG>ggA		SH2 domain containing 7							21.0	24.0	23.0					15																	78393483		1877	4110	5987	SO:0001819	synonymous_variant	646892							g.chr15:78393483G>A		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.888G>A	15.37:g.78393483G>A						SH2D7_ENST00000409568.2_Silent_p.G160G	p.G296G	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN			5	888	+			296						Silent	SNP	ENST00000328828.5	37	c.888G>A	CCDS45315.1																																																																																				0.637	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		4	30	0	0	0	1	0	4	30				
ERAP2	64167	broad.mit.edu	37	5	96232138	96232138	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr5:96232138G>A	ENST00000437043.3	+	8	2012	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.R389H|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	434					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AATTCATCCCGCCCTATCTCC	0.358																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1300-1302)cGc>cAc		endoplasmic reticulum aminopeptidase 2							79.0	81.0	80.0					5																	96232138		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96232138G>A	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1301G>A	5.37:g.96232138G>A	ENSP00000400376:p.Arg434His					ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.R389H	p.R434H	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	8	2012	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	434					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.1301G>A	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	3.887	-0.024713	0.07589	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	T;T;T;T	0.02258	4.37;4.37;4.37;4.37	5.36	-10.5	0.00291	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.526299	0.18587	N	0.136848	T	0.00552	0.0018	N	0.01289	-0.905	0.20307	N	0.999912	B;B	0.09022	0.002;0.0	B;B	0.11329	0.002;0.006	T	0.31223	-0.9951	10	0.02654	T	1	.	6.3617	0.21433	0.6044:0.0772:0.2413:0.0771	.	389;434	Q6P179-3;Q6P179	.;ERAP2_HUMAN	H	434;434;434;389	ENSP00000400376:R434H;ENSP00000421175:R434H;ENSP00000421849:R434H;ENSP00000369235:R389H	ENSP00000369235:R389H	R	+	2	0	ERAP2	96257894	0.000000	0.05858	0.000000	0.03702	0.953000	0.61014	-0.589000	0.05767	-2.296000	0.00662	-0.219000	0.12488	CGC		0.358	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		3	37	0	0	0	1	0	3	37				
DLGAP5	9787	broad.mit.edu	37	14	55618430	55618430	+	Missense_Mutation	SNP	G	G	T	rs60954195		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr14:55618430G>T	ENST00000247191.2	-	17	2567	c.2351C>A	c.(2350-2352)aCt>aAt	p.T784N	DLGAP5_ENST00000395425.2_Missense_Mutation_p.T784N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	784					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGAAATTTTAGTTTCCCCTTC	0.313																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2350-2352)aCt>aAt		discs, large (Drosophila) homolog-associated protein 5							53.0	54.0	54.0					14																	55618430		2201	4298	6499	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618430G>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2351C>A	14.37:g.55618430G>T	ENSP00000247191:p.Thr784Asn					DLGAP5_ENST00000395425.2_Missense_Mutation_p.T784N	p.T784N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			17	2567	-			784					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2351C>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671262	0.29693	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.30714	1.52;1.52	3.9	2.06	0.26882	.	5.035320	0.00166	N	0.000002	T	0.32041	0.0816	L	0.29908	0.895	0.09310	N	1	P;D	0.56035	0.915;0.974	B;P	0.49140	0.374;0.601	T	0.15723	-1.0427	10	0.59425	D	0.04	.	5.4903	0.16773	0.1093:0.2032:0.6875:0.0	.	784;784	A8MTM6;Q15398	.;DLGP5_HUMAN	N	784	ENSP00000378815:T784N;ENSP00000247191:T784N	ENSP00000247191:T784N	T	-	2	0	DLGAP5	54688183	0.003000	0.15002	0.006000	0.13384	0.665000	0.39181	0.612000	0.24283	0.623000	0.30267	0.655000	0.94253	ACT		0.313	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		5	40	1	0	0.184627	1	0.184627	5	40				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	61	0	0	0	1	0	25	61				
RGPD4	285190	broad.mit.edu	37	2	108488523	108488523	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr2:108488523A>G	ENST00000408999.3	+	20	4140	c.4063A>G	c.(4063-4065)Aaa>Gaa	p.K1355E	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1355	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAATGAAAAAGTTGTTTT	0.363																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4063-4065)Aaa>Gaa		RANBP2-like and GRIP domain containing 4							46.0	32.0	37.0					2																	108488523		692	1590	2282	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488523A>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4063A>G	2.37:g.108488523A>G	ENSP00000386810:p.Lys1355Glu					RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E	p.K1355E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4140	+			1355			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4063A>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.076809	0.00375	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.38240	1.15;1.15	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.09379	0.0231	N	0.00514	-1.41	0.21445	N	0.999688	B	0.09022	0.002	B	0.11329	0.006	T	0.33059	-0.9883	9	0.02654	T	1	-15.6262	9.1598	0.37016	0.2196:0.7804:0.0:0.0	.	1355	Q7Z3J3	RGPD4_HUMAN	E	1355	ENSP00000347081:K1355E;ENSP00000386810:K1355E	ENSP00000347081:K1355E	K	+	1	0	RGPD4	107854955	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.773000	0.55333	0.317000	0.23160	-2.054000	0.00404	AAA		0.363	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		20	245	0	0	0	1	0	20	245				
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		2	4						2	4	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			5	7						5	7	---	---	---	---
RP11-405A12.2	0	broad.mit.edu	37	12	20096042	20096042	+	lincRNA	DEL	A	A	-			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr12:20096042delA	ENST00000535764.1	+	0	212																											ACAAGCTGTTAAAAAAAAAAT	0.303																																						ENST00000535764.1																			0																																																			0							g.chr12:20096042delA																													12.37:g.20096042delA														0	212	+									RNA	DEL	ENST00000535764.1	37																																																																																						0.303	RP11-405A12.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401672.1			3	3						3	3	---	---	---	---
TUBB8P7	197331	broad.mit.edu	37	16	90161966	90161966	+	RNA	DEL	T	T	-	rs56265310	byFrequency	TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:90161966delT	ENST00000564451.1	+	0	1319				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTACCATGAGTTGGGGTCACC	0.542													|||unknown(NO_COVERAGE)	2930	0.585064	0.9251	0.4539	5008	,	,		11430	0.7718		0.3807	False		,,,				2504	0.2362					ENST00000567960.1																			0																																																			0							g.chr16:90161966delT			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161966delT						TUBB8P7_ENST00000564451.1_RNA								0	702	+									RNA	DEL	ENST00000564451.1	37																																																																																						0.542	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	0						7	0	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	lincRNA	DEL	TG	TG	-	rs144024329		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401																																						ENST00000598131.1																			0																																																			0							g.chr19:20634038_20634039delTG																													19.37:g.20634048_20634049delTG														0	160	+									RNA	DEL	ENST00000598131.1	37																																																																																						0.401	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			6	13						6	13	---	---	---	---
LILRP2	79166	broad.mit.edu	37	19	55221804	55221805	+	RNA	INS	-	-	AC	rs45583536|rs201829099|rs376003578	byFrequency	TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:55221804_55221805insAC	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		CAGAGACAGAGACTGAGGGTCC	0.614														612	0.122204	0.1067	0.1484	5008	,	,		15697	0.1577		0.1054	False		,,,				2504	0.1053				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221804_55221805insAC	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221805_55221806dupAC														0	1415	+									RNA	INS	ENST00000413439.1	37																																																																																						0.614	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	5						5	5	---	---	---	---
