#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NBPF9	400818	broad.mit.edu	37	1	144823878	144823878	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr1:144823878A>C	ENST00000281815.8	+	9	946	c.200A>C	c.(199-201)tAt>tCt	p.Y67S	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y382S|NBPF9_ENST00000440491.2_Missense_Mutation_p.Y382S			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	715						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TATAGATGTTATTCAACTCCT	0.483																																						uc009wig.1		NA																	0					0						c.(1918-1920)TAT>TCT		hypothetical protein LOC400818																																				SO:0001583	missense	400818					cytoplasm		g.chr1:144823878A>C		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.200A>C	1.37:g.144823878A>C	ENSP00000281815:p.Tyr67Ser					NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.Y441S|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Y300S	p.Y640S	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			17	1995	+			640			NBPF 4.			Missense_Mutation	SNP	ENST00000281815.8	37	c.1919A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.138|8.138	0.784620|0.784620	0.16189|0.16189	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491;ENST00000281815	.|T;T;T	.|0.08282	.|3.11;3.11;3.11	0.431|0.431	-0.862|-0.862	0.10673|0.10673	.|.	.|.	.|.	.|.	.|.	T|T	0.06325|0.06325	0.0163|0.0163	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.91635	.|0.999	T|T	0.20638|0.20638	-1.0269|-1.0269	3|7	.|0.20046	.|T	.|0.44	.|.	.|.	.|.	.|.	.|.	.|380	.|A2BGT5	.|.	L|S	381|382;382;67	.|ENSP00000342975:Y382S;ENSP00000390934:Y382S;ENSP00000281815:Y67S	.|ENSP00000281815:Y67S	I|Y	+|+	1|2	0|0	NBPF9|NBPF9	143535235|143535235	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.041000|0.041000	0.13682|0.13682	-1.315000|-1.315000	0.02713|0.02713	-0.698000|-0.698000	0.05085|0.05085	0.163000|0.163000	0.16589|0.16589	ATT|TAT		0.483	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		3	75	0	0	0	0	3	75				
OR14I1	401994	broad.mit.edu	37	1	248844912	248844912	+	Nonsense_Mutation	SNP	G	G	A	rs374606822	byFrequency	TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr1:248844912G>A	ENST00000342623.3	-	1	717	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GCTTTTGCTCGACTCTGTCCT	0.493																																						uc001ieu.1		NA																	0					0						c.(694-696)CGA>TGA		olfactory receptor, family 14, subfamily I,		G	stop/ARG	2,4404		0,2,2201	86.0	86.0	86.0		694	-7.0	0.0	1		86	1,8599		0,1,4299	no	stop-gained	OR14I1	NM_001004734.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		232/312	248844912	3,13003	2203	4300	6503	SO:0001587	stop_gained	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844912G>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.694C>T	1.37:g.248844912G>A	ENSP00000339726:p.Arg232*						p.R232*	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	694	-			232			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000342623.3	37	c.694C>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.054682	0.75960	4.54E-4	1.16E-4	ENSG00000189181	ENST00000342623	.	.	.	3.49	-6.97	0.01616	.	0.185598	0.25619	N	0.029424	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6158	0.39690	0.0919:0.0:0.1568:0.7513	.	.	.	.	X	232	.	ENSP00000339726:R232X	R	-	1	2	OR14I1	246911535	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	-2.744000	0.00796	-1.904000	0.01092	0.543000	0.68304	CGA		0.493	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		5	78	0	0	0	0	5	78				
ANK3	288	broad.mit.edu	37	10	61835630	61835630	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr10:61835630A>G	ENST00000280772.2	-	37	5200	c.5009T>C	c.(5008-5010)cTa>cCa	p.L1670P	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1670	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAAGATATTAGCGGTGCTGC	0.388																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(5008-5010)CTA>CCA		ankyrin 3 isoform 1							128.0	122.0	124.0					10																	61835630		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835630A>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5009T>C	10.37:g.61835630A>G	ENSP00000280772:p.Leu1670Pro					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.L1670P	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	5201	-			1670			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5009T>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906502	0.33628	.	.	ENSG00000151150	ENST00000280772	T	0.65364	-0.15	5.82	5.82	0.92795	.	0.000000	0.33180	N	0.005185	T	0.70762	0.3261	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	P	0.57548	0.823	T	0.68788	-0.5316	10	0.33141	T	0.24	.	16.1809	0.81898	1.0:0.0:0.0:0.0	.	1670	Q12955	ANK3_HUMAN	P	1670	ENSP00000280772:L1670P	ENSP00000280772:L1670P	L	-	2	0	ANK3	61505636	1.000000	0.71417	0.013000	0.15412	0.932000	0.56968	6.095000	0.71439	2.229000	0.72834	0.383000	0.25322	CTA		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		3	84	0	0	0	0	3	84				
SERPING1	710	broad.mit.edu	37	11	57382046	57382046	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr11:57382046A>G	ENST00000278407.4	+	8	1722	c.1495A>G	c.(1495-1497)Agg>Ggg	p.R499G	SERPING1_ENST00000340687.6_Missense_Mutation_p.R462G|SERPING1_ENST00000378323.4_Missense_Mutation_p.R504G|SERPING1_ENST00000403558.1_Missense_Mutation_p.R542G|SERPING1_ENST00000378324.2_Missense_Mutation_p.R447G	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	499					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATATGACCCCAGGGCCTGAGA	0.622																																						uc001nkp.1		NA																	0				central_nervous_system(1)	1						c.(1495-1497)AGG>GGG		serpin peptidase inhibitor, clade G, member 1							29.0	30.0	29.0					11																	57382046		2201	4296	6497	SO:0001583	missense	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57382046A>G	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1495A>G	11.37:g.57382046A>G	ENSP00000278407:p.Arg499Gly					SERPING1_uc001nkq.1_Missense_Mutation_p.R462G|SERPING1_uc010rju.1_Missense_Mutation_p.R447G|SERPING1_uc010rjv.1_Missense_Mutation_p.R504G|SERPING1_uc001nkr.1_Missense_Mutation_p.R499G|SERPING1_uc009ymi.1_Missense_Mutation_p.R508G|SERPING1_uc009ymj.1_3'UTR|SERPING1_uc001nks.1_Missense_Mutation_p.R190G	p.R499G	NM_000062	NP_000053	P05155	IC1_HUMAN			8	1686	+			499					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.1495A>G	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650086	0.29336	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.86164	-2.01;-2.01;-2.01;-1.99;-2.08	4.92	1.08	0.20341	.	1.185670	0.06065	N	0.658983	T	0.79695	0.4490	L	0.34521	1.04	0.09310	N	0.999996	P;P;P	0.39376	0.543;0.67;0.67	B;B;B	0.34873	0.191;0.191;0.191	T	0.68637	-0.5356	10	0.87932	D	0	.	7.0719	0.25183	0.4101:0.5019:0.088:0.0	.	504;499;499	B4E1F0;E9KL26;P05155	.;.;IC1_HUMAN	G	499;462;504;447;542	ENSP00000278407:R499G;ENSP00000341861:R462G;ENSP00000367574:R504G;ENSP00000367575:R447G;ENSP00000384420:R542G	ENSP00000278407:R499G	R	+	1	2	SERPING1	57138622	0.062000	0.20869	0.359000	0.25824	0.788000	0.44548	0.290000	0.18975	0.248000	0.21435	0.459000	0.35465	AGG		0.622	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		3	31	0	0	0	0	3	31				
HCAR3	8843	broad.mit.edu	37	12	123200861	123200861	+	Missense_Mutation	SNP	A	A	G	rs202161035	byFrequency	TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr12:123200861A>G	ENST00000528880.2	-	1	578	c.424T>C	c.(424-426)Tgg>Cgg	p.W142R	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	142					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GCTGCTGTCCAATTGGAGATC	0.542													a|||	48	0.00958466	0.0	0.0014	5008	,	,		20111	0.0		0.001	False		,,,				2504	0.047					uc001ucy.3		NA																	0				ovary(1)|skin(1)	2						c.(424-426)TGG>CGG		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)	A	ARG/TRP	3,4403	6.2+/-15.9	0,3,2200	112.0	107.0	109.0		424	-1.5	0.0	12		109	3,8597	2.2+/-6.3	0,3,4297	no	missense	HCAR3	NM_006018.2	101	0,6,6497	GG,GA,AA		0.0349,0.0681,0.0461	benign	142/388	123200861	6,13000	2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200861A>G	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.424T>C	12.37:g.123200861A>G	ENSP00000436714:p.Trp142Arg					GPR81_uc001ucw.1_Intron	p.W142R	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	579	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		142			Cytoplasmic (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.424T>C	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.417547	0.00013	6.81E-4	3.49E-4	ENSG00000255398	ENST00000528880	T	0.31247	1.5	3.41	-1.55	0.08558	.	.	.	.	.	T	0.04497	0.0123	N	0.00174	-1.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38156	-0.9674	9	0.02654	T	1	.	3.3871	0.07276	0.228:0.0:0.4367:0.3353	.	142	E9PI97	.	R	142	ENSP00000436714:W142R	ENSP00000436714:W142R	W	-	1	0	HCAR3	121766814	0.990000	0.36364	0.005000	0.12908	0.143000	0.21401	0.082000	0.14847	-0.211000	0.10124	-1.392000	0.01152	TGG		0.542	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		3	77	0	0	0	0	3	77				
ATAD5	79915	broad.mit.edu	37	17	29162940	29162940	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr17:29162940C>G	ENST00000321990.4	+	2	2219	c.1841C>G	c.(1840-1842)tCt>tGt	p.S614C	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	614					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGTATTGATTCTGACGATGTA	0.393																																						uc002hfs.1		NA																	0				ovary(3)	3						c.(1840-1842)TCT>TGT		ATPase family, AAA domain containing 5							95.0	89.0	91.0					17																	29162940		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162940C>G		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1841C>G	17.37:g.29162940C>G	ENSP00000313171:p.Ser614Cys					ATAD5_uc002hft.1_Missense_Mutation_p.S511C	p.S614C	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			2	2187	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	614					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1841C>G	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	3.158	-0.172768	0.06421	.	.	ENSG00000176208	ENST00000321990	T	0.10288	2.89	5.31	3.24	0.37175	.	1.256300	0.05238	N	0.511710	T	0.27967	0.0689	M	0.66939	2.045	0.31141	N	0.706661	D;D	0.76494	0.999;0.999	D;P	0.63192	0.912;0.879	T	0.03587	-1.1022	10	0.72032	D	0.01	.	5.2301	0.15416	0.1623:0.6517:0.0:0.186	.	614;614	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	614	ENSP00000313171:S614C	ENSP00000313171:S614C	S	+	2	0	ATAD5	26187066	0.992000	0.36948	0.983000	0.44433	0.373000	0.29922	0.835000	0.27531	0.640000	0.30582	0.655000	0.94253	TCT		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		6	64	0	0	0	0	6	64				
RANBP2	5903	broad.mit.edu	37	2	109352601	109352601	+	Silent	SNP	T	T	C			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr2:109352601T>C	ENST00000283195.6	+	6	804	c.678T>C	c.(676-678)agT>agC	p.S226S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	226					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTGATAAAAGTGACTGGCGAG	0.368																																						uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(676-678)AGT>AGC		RAN binding protein 2							103.0	133.0	123.0					2																	109352601		2202	4283	6485	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109352601T>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.678T>C	2.37:g.109352601T>C							p.S226S	NM_006267	NP_006258	P49792	RBP2_HUMAN			6	804	+			226					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.678T>C	CCDS2079.1																																																																																				0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	269	0	0	0	0	7	269				
PTPRT	11122	broad.mit.edu	37	20	40727119	40727119	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr20:40727119A>G	ENST00000373187.1	-	27	3787	c.3788T>C	c.(3787-3789)cTg>cCg	p.L1263P	PTPRT_ENST00000373198.4_Missense_Mutation_p.L1282P|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1262P|PTPRT_ENST00000356100.2_Missense_Mutation_p.L1272P|PTPRT_ENST00000373184.1_Missense_Mutation_p.L1273P|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1266P|PTPRT_ENST00000373201.1_Missense_Mutation_p.L1253P			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1263	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCGAACACCAGCCTCCAGAA	0.592																																						uc002xkg.2		NA																	0		p.K1263K(1)		skin(8)|ovary(7)|lung(5)	20						c.(3787-3789)CTG>CCG		protein tyrosine phosphatase, receptor type, T							73.0	78.0	76.0					20																	40727119		2102	4235	6337	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40727119A>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3788T>C	20.37:g.40727119A>G	ENSP00000362283:p.Leu1263Pro					PTPRT_uc010ggj.2_Missense_Mutation_p.L1282P|PTPRT_uc010ggi.2_Missense_Mutation_p.L466P	p.L1263P	NM_007050	NP_008981	O14522	PTPRT_HUMAN			27	3972	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1263			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3788T>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632020	0.87660	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000002	T	0.52917	0.1764	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65207	-0.6224	10	0.87932	D	0	.	16.1175	0.81319	1.0:0.0:0.0:0.0	.	1285;1263	O14522-1;O14522	.;PTPRT_HUMAN	P	1262;1263;1266;1272;1285;1273;1253	ENSP00000362286:L1262P;ENSP00000362283:L1263P;ENSP00000362289:L1266P;ENSP00000348408:L1272P;ENSP00000362294:L1285P;ENSP00000362280:L1273P;ENSP00000362297:L1253P	ENSP00000348408:L1272P	L	-	2	0	PTPRT	40160533	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.211000	0.71520	0.460000	0.39030	CTG		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			3	67	0	0	0	0	3	67				
ECE2	9718	broad.mit.edu	37	3	184009925	184009925	+	Missense_Mutation	SNP	C	C	T	rs373409868		TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr3:184009925C>T	ENST00000402825.3	+	19	2551	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C	ECE2_ENST00000359140.4_Missense_Mutation_p.R704C|ECE2_ENST00000357474.5_Missense_Mutation_p.R779C|ECE2_ENST00000404464.3_Missense_Mutation_p.R733C|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	851	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.R779C(1)|p.R704C(1)|p.R851C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCCGCTTCCGCGTGCTGGG	0.677																																						uc003fni.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)	4						c.(2551-2553)CGC>TGC		endothelin converting enzyme 2 isoform A		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	40.0	42.0	42.0		2110,2335,2197,2551	5.4	1.0	3		42	1,8599		0,1,4299	no	missense,missense,missense,missense	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	704/737,779/812,733/766,851/884	184009925	1,13005	2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184009925C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2551C>T	3.37:g.184009925C>T	ENSP00000384223:p.Arg851Cys					ECE2_uc003fnl.3_Missense_Mutation_p.R779C|ECE2_uc003fnm.3_Missense_Mutation_p.R733C|ECE2_uc003fnk.3_Missense_Mutation_p.R704C	p.R851C	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2589	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		851			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2551C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233361	0.79688	0.0	1.16E-4	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.38	5.38	0.77491	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	H	0.99758	4.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98463	1.0597	10	0.87932	D	0	-13.1781	11.6875	0.51494	0.1768:0.8232:0.0:0.0	.	733;779;704;851	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	C	851;704;733;779	ENSP00000384223:R851C;ENSP00000352052:R704C;ENSP00000385846:R733C;ENSP00000350066:R779C	ENSP00000350066:R779C	R	+	1	0	ECE2	185492619	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.403000	0.34612	2.515000	0.84797	0.491000	0.48974	CGC		0.677	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		8	61	0	0	0	0	8	61				
TEX15	56154	broad.mit.edu	37	8	30701885	30701885	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr8:30701885T>A	ENST00000256246.2	-	1	4723	c.4649A>T	c.(4648-4650)gAc>gTc	p.D1550V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGACTGCGAGTCTTTACTAAC	0.383																																						uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(4648-4650)GAC>GTC		testis expressed 15							192.0	191.0	192.0					8																	30701885		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701885T>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4649A>T	8.37:g.30701885T>A	ENSP00000256246:p.Asp1550Val						p.D1550V	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4649	-			1550						Missense_Mutation	SNP	ENST00000256246.2	37	c.4649A>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123423	0.37436	.	.	ENSG00000133863	ENST00000256246	T	0.12774	2.65	5.47	-1.56	0.08532	.	0.636064	0.15283	N	0.270573	T	0.08403	0.0209	L	0.38531	1.155	0.19300	N	0.999971	B	0.12630	0.006	B	0.17098	0.017	T	0.30475	-0.9977	10	0.87932	D	0	.	1.207	0.01896	0.1378:0.2391:0.1429:0.4802	.	1550	Q9BXT5	TEX15_HUMAN	V	1550	ENSP00000256246:D1550V	ENSP00000256246:D1550V	D	-	2	0	TEX15	30821427	0.184000	0.23200	0.000000	0.03702	0.007000	0.05969	0.473000	0.22132	-0.415000	0.07484	-0.301000	0.09380	GAC		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			8	126	0	0	0	0	8	126				
EPPK1	83481	broad.mit.edu	37	8	144946714	144946714	+	Silent	SNP	G	G	A			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr8:144946714G>A	ENST00000525985.1	-	2	779	c.708C>T	c.(706-708)cgC>cgT	p.R236R				P58107	EPIPL_HUMAN	epiplakin 1	236						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCATGGAGCGGAAGGTGA	0.682																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(706-708)CGC>CGT		epiplakin 1							15.0	19.0	18.0					8																	144946714		2129	4226	6355	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946714G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.708C>T	8.37:g.144946714G>A							p.R236R	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	721	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		236					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.708C>T																																																																																					0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	15	0	0	0	0	3	15				
MORC4	79710	broad.mit.edu	37	X	106186359	106186359	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chrX:106186359G>C	ENST00000355610.4	-	15	2036	c.1762C>G	c.(1762-1764)Cta>Gta	p.L588V	MORC4_ENST00000535534.1_Missense_Mutation_p.L336V|MORC4_ENST00000255495.7_Missense_Mutation_p.L588V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	588						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAATAATCTAGAGAAGGTGTT	0.453													G|||	1	0.000264901	0.0	0.0	3775	,	,		14744	0.0		0.0	False		,,,				2504	0.001					uc004emu.3		NA																	0				ovary(1)	1						c.(1762-1764)CTA>GTA		zinc finger, CW type with coiled-coil domain 2							133.0	132.0	133.0					X																	106186359		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106186359G>C	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1762C>G	X.37:g.106186359G>C	ENSP00000347821:p.Leu588Val					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.L588V|MORC4_uc004emw.3_Missense_Mutation_p.L336V	p.L588V	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			15	2005	-			588					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.1762C>G	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	G	2.905	-0.226573	0.06022	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.32023	2.73;1.47;2.71	4.3	1.28	0.21552	.	0.207947	0.24247	N	0.040201	T	0.18841	0.0452	L	0.47716	1.5	0.22684	N	0.99885	B;B;B	0.24721	0.11;0.062;0.036	B;B;B	0.21917	0.037;0.037;0.013	T	0.30851	-0.9964	10	0.07813	T	0.8	-2.305	4.9273	0.13900	0.1137:0.0:0.5467:0.3396	.	336;588;588	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	V	588;336;588	ENSP00000347821:L588V;ENSP00000440359:L336V;ENSP00000255495:L588V	ENSP00000255495:L588V	L	-	1	2	MORC4	106073015	1.000000	0.71417	0.927000	0.36925	0.103000	0.19146	0.608000	0.24223	0.011000	0.14865	-0.268000	0.10319	CTA		0.453	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		8	154	0	0	0	0	8	154				
C8orf58	541565	broad.mit.edu	37	8	22459568	22459570	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CR-7391-01A-11D-2012-08	TCGA-CR-7391-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7236609c-34dd-425a-b882-2dff36983f7b	d00e373a-4fb4-42e6-b71e-a61bad73e27e	g.chr8:22459568_22459570delGCT	ENST00000289989.5	+	4	815_817	c.741_743delGCT	c.(739-744)gagctg>gag	p.L249del	C8orf58_ENST00000409586.3_In_Frame_Del_p.L249del|CCAR2_ENST00000389279.3_5'Flank|CCAR2_ENST00000521301.1_5'Flank|CCAR2_ENST00000308511.4_5'Flank			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	249										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCCATGGGAGCTGCTAAGCCAG	0.64																																						uc003xce.2		NA																	0				skin(1)	1						c.(739-744)GAGCTG>GAG		hypothetical protein LOC541565			,,	2,4216		1,0,2108					,,	3.5	0.1			33	8,8216		3,2,4107	no	coding,coding,coding	C8orf58	NM_173686.2,NM_001198827.1,NM_001013842.2	,,	4,2,6215	A1A1,A1R,RR		0.0973,0.0474,0.0804	,,	,,		10,12432				SO:0001651	inframe_deletion	541565							g.chr8:22459568_22459570delGCT	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.741_743delGCT	8.37:g.22459571_22459573delGCT	ENSP00000289989:p.Leu249del					C8orf58_uc011kzl.1_In_Frame_Del_p.L249del|C8orf58_uc003xcf.2_In_Frame_Del_p.L249del|KIAA1967_uc003xch.2_5'Flank|KIAA1967_uc003xci.2_5'Flank	p.L249del	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	853_855	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	249					B4DI44	In_Frame_Del	DEL	ENST00000289989.5	37	c.741_743delGCT	CCDS34862.1																																																																																				0.640	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		6	5	NA	NA	NA	NA	6	5	---	---	---	---
