#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DFNA5	1687	broad.mit.edu	37	7	24758768	24758768	+	Missense_Mutation	SNP	C	C	G			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr7:24758768C>G	ENST00000342947.3	-	4	899	c.474G>C	c.(472-474)ttG>ttC	p.L158F	DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.L158F|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	158					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCTTCTGTGTCAAAACGCACA	0.502																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(472-474)ttG>ttC		deafness, autosomal dominant 5							214.0	177.0	189.0					7																	24758768		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24758768C>G	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.474G>C	7.37:g.24758768C>G	ENSP00000339587:p.Leu158Phe		Somatic				DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.L158F|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	p.L158F	NM_004403.2	NP_004394.1	WXS	Illumina GAIIx	Phase_I	O60443	DFNA5_HUMAN			4	899	-			158					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.474G>C	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656975	0.47467	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.25912	1.77;1.77	5.08	5.08	0.68730	.	0.074293	0.56097	D	0.000037	T	0.52773	0.1755	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.57780	-0.7752	10	0.72032	D	0.01	-13.3118	15.9613	0.79933	0.0:1.0:0.0:0.0	.	158;158	A4FTY0;O60443	.;DFNA5_HUMAN	F	158	ENSP00000339587:L158F;ENSP00000386670:L158F	ENSP00000339587:L158F	L	-	3	2	DFNA5	24725293	1.000000	0.71417	0.808000	0.32385	0.017000	0.09413	4.565000	0.60836	2.369000	0.80426	0.591000	0.81541	TTG		0.502	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		28	39	0	0	0	1	0	28	39				
TENC1	23371	broad.mit.edu	37	12	53449609	53449609	+	Silent	SNP	C	C	T			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr12:53449609C>T	ENST00000314250.6	+	10	1031	c.741C>T	c.(739-741)caC>caT	p.H247H	TENC1_ENST00000314276.3_Silent_p.H257H|TENC1_ENST00000549700.1_Silent_p.H247H|TENC1_ENST00000546602.1_Silent_p.H247H|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Silent_p.H247H|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Silent_p.H123H|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000451358.1_Silent_p.H247H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	247	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCTACATGCACTACAGCAAGA	0.597																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(739-741)caC>caT		tensin like C1 domain containing phosphatase (tensin 2)							195.0	183.0	187.0					12																	53449609		2203	4300	6503	SO:0001819	synonymous_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53449609C>T	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.741C>T	12.37:g.53449609C>T			Somatic				TENC1_ENST00000549700.1_Silent_p.H247H|TENC1_ENST00000314276.3_Silent_p.H257H|TENC1_ENST00000552570.1_Silent_p.H247H|TENC1_ENST00000379902.3_Silent_p.H123H|TENC1_ENST00000451358.1_Silent_p.H247H|TENC1_ENST00000546602.1_Silent_p.H247H	p.H247H	NM_170754.2	NP_736610.2	WXS	Illumina GAIIx	Phase_I	Q63HR2	TENC1_HUMAN			10	1031	+			247			Phosphatase tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.741C>T	CCDS8843.1																																																																																				0.597	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		42	74	0	0	0	1	0	42	74				
WDR16	146845	broad.mit.edu	37	17	9490111	9490111	+	Missense_Mutation	SNP	G	G	C			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr17:9490111G>C	ENST00000576499.1	+	3	377	c.363G>C	c.(361-363)atG>atC	p.M121I	WDR16_ENST00000396219.3_Missense_Mutation_p.D55H|WDR16_ENST00000352665.5_Missense_Mutation_p.D123H|WDR16_ENST00000299764.5_Missense_Mutation_p.D133H					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTCCAAATGATTTGTACTT	0.388																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(367-369)Gat>Cat		WD repeat domain 16							77.0	77.0	77.0					17																	9490111		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9490111G>C	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.363G>C	17.37:g.9490111G>C	ENSP00000476293:p.Met121Ile		Somatic				WDR16_ENST00000576499.1_Missense_Mutation_p.M121I|WDR16_ENST00000299764.5_Missense_Mutation_p.D133H|WDR16_ENST00000396219.3_Missense_Mutation_p.D55H	p.D123H	NM_145054.4	NP_659491.4	WXS	Illumina GAIIx	Phase_I	Q8N1V2	WDR16_HUMAN			3	436	+			123						Missense_Mutation	SNP	ENST00000576499.1	37	c.367G>C		.	.	.	.	.	.	.	.	.	.	G	20.2	3.948229	0.73787	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.90385	0.93;-2.66;4.95	5.69	3.6	0.41247	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.127271	0.64402	D	0.000001	D	0.95033	0.8392	M	0.90019	3.08	0.58432	D	0.999995	D;D;D	0.69078	0.994;0.989;0.997	D;P;D	0.69307	0.91;0.86;0.963	D	0.94116	0.7375	10	0.48119	T	0.1	-28.085	10.7048	0.45948	0.0743:0.0:0.7913:0.1344	.	133;55;123	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	H	123;55;133	ENSP00000339449:D123H;ENSP00000379521:D55H;ENSP00000299764:D133H	ENSP00000299764:D133H	D	+	1	0	WDR16	9430836	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.934000	0.63491	2.690000	0.91761	0.455000	0.32223	GAT		0.388	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2	NM_145054		39	45	0	0	0	1	0	39	45				
C17orf80	55028	broad.mit.edu	37	17	71239111	71239111	+	Silent	SNP	C	C	G			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr17:71239111C>G	ENST00000535032.2	+	4	1811	c.1698C>G	c.(1696-1698)gtC>gtG	p.V566V	C17orf80_ENST00000582793.1_Silent_p.V35V|RP11-661C3.2_ENST00000579037.1_RNA|C17orf80_ENST00000577615.1_Silent_p.V530V|C17orf80_ENST00000268942.8_Silent_p.V530V|C17orf80_ENST00000359042.2_Silent_p.V566V|C17orf80_ENST00000426147.2_Silent_p.V566V|C17orf80_ENST00000255557.4_Silent_p.V530V			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	566						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GATACTTCGTCCTGTGTTGTA	0.468																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(1696-1698)gtC>gtG		chromosome 17 open reading frame 80							181.0	134.0	150.0					17																	71239111		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71239111C>G	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1698C>G	17.37:g.71239111C>G			Somatic				C17orf80_ENST00000255557.4_Silent_p.V530V|C17orf80_ENST00000577615.1_Silent_p.V530V|C17orf80_ENST00000535032.2_Silent_p.V566V|C17orf80_ENST00000582793.1_Silent_p.V35V|C17orf80_ENST00000268942.8_Silent_p.V530V|C17orf80_ENST00000426147.2_Silent_p.V566V	p.V566V	NM_017941.4	NP_060411	WXS	Illumina GAIIx	Phase_I	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		5	1892	+			566					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.1698C>G	CCDS11694.1																																																																																				0.468	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		12	13	0	0	0	1	0	12	13				
GGA2	23062	broad.mit.edu	37	16	23481415	23481415	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr16:23481415C>T	ENST00000309859.4	-	15	1604	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	508	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGCCCAGGGGCTCCCGTCTGG	0.552																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(1522-1524)Gcc>Acc		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							74.0	75.0	75.0					16																	23481415		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23481415C>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1522G>A	16.37:g.23481415C>T	ENSP00000311962:p.Ala508Thr		Somatic				GGA2_ENST00000567468.1_Intron	p.A508T	NM_015044.4	NP_055859.1	WXS	Illumina GAIIx	Phase_I	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	15	1604	-			508			GAE.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.1522G>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324671	0.60634	.	.	ENSG00000103365	ENST00000309859	T	0.29397	1.57	4.93	4.93	0.64822	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.272836	0.35708	N	0.003039	T	0.28566	0.0707	L	0.29908	0.895	0.80722	D	1	P	0.42010	0.768	P	0.48627	0.584	T	0.01988	-1.1234	10	0.14252	T	0.57	-14.3517	11.8415	0.52357	0.0:0.823:0.177:0.0	.	508	Q9UJY4	GGA2_HUMAN	T	508	ENSP00000311962:A508T	ENSP00000311962:A508T	A	-	1	0	GGA2	23388916	0.991000	0.36638	0.871000	0.34182	0.833000	0.47200	2.508000	0.45450	2.418000	0.82041	0.561000	0.74099	GCC		0.552	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			15	38	0	0	0	1	0	15	38				
PRAMEF6	440561	broad.mit.edu	37	1	13108945	13108945	+	Missense_Mutation	SNP	C	C	A			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr1:13108945C>A	ENST00000376182.1	-	4	1423	c.1324G>T	c.(1324-1326)Gtg>Ttg	p.V442L	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000414205.2_Missense_Mutation_p.V442L	NM_001282323.1	NP_001269252.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	442					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCCCTCACTCTCTTCATC	0.517																																						ENST00000376182.1																			0				NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9						c.(1324-1326)Gtg>Ttg		PRAME family member 6																																				SO:0001583	missense	440561							g.chr1:13108945C>A		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376182.1:c.1324G>T	1.37:g.13108945C>A	ENSP00000365353:p.Val442Leu		Somatic				PRAMEF6_ENST00000414205.2_Missense_Mutation_p.V442L|PRAMEF6_ENST00000376192.5_Intron	p.V442L	NM_001282323.1	NP_001269252.1	WXS	Illumina GAIIx	Phase_I	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1423	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	442					A0AUJ9	Missense_Mutation	SNP	ENST00000376182.1	37	c.1324G>T		.	.	.	.	.	.	.	.	.	.	.	0.004	-2.353666	0.00217	.	.	ENSG00000232423	ENST00000376182;ENST00000414205	T;T	0.43688	0.94;0.94	1.21	-2.17	0.07059	.	0.473069	0.18384	N	0.142871	T	0.11196	0.0273	N	0.02973	-0.45	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.25398	-1.0133	10	0.02654	T	1	.	2.8471	0.05547	0.0:0.3133:0.3916:0.2952	.	442	A6NMV5	PRA23_HUMAN	L	442	ENSP00000365353:V442L;ENSP00000393084:V442L	ENSP00000365353:V442L	V	-	1	0	PRAMEF6	13031532	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.499000	0.06413	-0.512000	0.06505	0.184000	0.17185	GTG		0.517	PRAMEF6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001010889		10	92	1	0	1.49906e-05	1	1.69893e-05	10	92				
PLEKHF2	79666	broad.mit.edu	37	8	96166799	96166799	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr8:96166799G>A	ENST00000315367.3	+	2	768	c.527G>A	c.(526-528)cGc>cAc	p.R176H	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.R176H	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	176					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CACCATTGCCGCAAATGTGGT	0.478																																						ENST00000315367.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(526-528)cGc>cAc		pleckstrin homology domain containing, family F (with FYVE domain) member 2							99.0	91.0	94.0					8																	96166799		2203	4300	6503	SO:0001583	missense	79666					transport vesicle	metal ion binding|protein binding	g.chr8:96166799G>A	AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.527G>A	8.37:g.96166799G>A	ENSP00000322373:p.Arg176His		Somatic				PLEKHF2_ENST00000519516.1_Missense_Mutation_p.R176H	p.R176H	NM_024613.3	NP_078889.1	WXS	Illumina GAIIx	Phase_I	Q9H8W4	PKHF2_HUMAN			2	768	+	Breast(36;3.18e-05)		176						Missense_Mutation	SNP	ENST00000315367.3	37	c.527G>A	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745385	0.89663	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	T;T	0.81247	-1.47;-1.47	6.07	6.07	0.98685	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94026	0.8086	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94345	0.7574	10	0.49607	T	0.09	-12.2797	20.6525	0.99598	0.0:0.0:1.0:0.0	.	176	Q9H8W4	PKHF2_HUMAN	H	176	ENSP00000322373:R176H;ENSP00000427792:R176H	ENSP00000322373:R176H	R	+	2	0	PLEKHF2	96235975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.361000	0.97122	2.890000	0.99128	0.585000	0.79938	CGC		0.478	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		5	187	0	0	0	1	0	5	187				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		20	29	0	0	0	1	0	20	29				
SPACA6P-AS	102238594	broad.mit.edu	37	19	52196513	52196513	+	lincRNA	SNP	T	T	A			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr19:52196513T>A	ENST00000602324.1	-	0	196				MIRLET7E_ENST00000362102.1_RNA|MIR125A_ENST00000385273.1_RNA|LINC00085_ENST00000573266.1_RNA|MIR99B_ENST00000384819.1_RNA	NR_029482.1|NR_029693.1																						ATGTTGCCAGTCTCTAGGTCC	0.577																																						ENST00000602324.1																			0																				35.0	34.0	35.0					19																	52196513		1568	3580	5148			0							g.chr19:52196513T>A																													19.37:g.52196513T>A			Somatic				MIR125A_ENST00000385273.1_RNA		NR_029482.1|NR_029693.1		WXS	Illumina GAIIx	Phase_I					0	196	-									RNA	SNP	ENST00000602324.1	37																																																																																						0.577	hsa-mir-125a.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467329.1			3	5	0	0	0	1	0	3	5				
P2RX3	5024	broad.mit.edu	37	11	57118298	57118298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr11:57118298C>A	ENST00000263314.2	+	8	802	c.768C>A	c.(766-768)tgC>tgA	p.C256*		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	256					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GGGACCAGTGCATCCCCAAAT	0.582																																						ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(766-768)tgC>tgA		purinergic receptor P2X, ligand-gated ion channel, 3							102.0	85.0	91.0					11																	57118298		2201	4296	6497	SO:0001587	stop_gained	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57118298C>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.768C>A	11.37:g.57118298C>A	ENSP00000263314:p.Cys256*		Somatic					p.C256*	NM_002559.3	NP_002550.2	WXS	Illumina GAIIx	Phase_I	P56373	P2RX3_HUMAN			8	802	+			256					Q6DK37|Q9UQB6	Nonsense_Mutation	SNP	ENST00000263314.2	37	c.768C>A	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893386	0.91889	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	.	.	.	5.73	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.9567	11.758	0.51886	0.0:0.9176:0.0:0.0824	.	.	.	.	X	256	.	ENSP00000263314:C256X	C	+	3	2	P2RX3	56874874	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.870000	0.28010	1.428000	0.47296	0.650000	0.86243	TGC		0.582	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		3	26	1	0	0.115264	1	0.122468	3	26				
CNTN5	53942	broad.mit.edu	37	11	100179204	100179204	+	Intron	SNP	T	T	C			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr11:100179204T>C	ENST00000524871.1	+	21	3020				CNTN5_ENST00000528682.1_Intron|CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000527185.1_Nonstop_Mutation_p.*912R|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTTGAGGTATGAACAGAATG	0.393																																						ENST00000527185.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2734-2736)Tga>Cga		contactin 5							59.0	58.0	58.0					11																	100179204		1862	4096	5958	SO:0001627	intron_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100179204T>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2730+4T>C	11.37:g.100179204T>C			Somatic				CNTN5_ENST00000528682.1_Intron|CNTN5_ENST00000524871.1_Intron|CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000279463.3_Intron|CNTN5_ENST00000418526.2_Intron	p.*912R	NM_001243271.1	NP_001230200.1	WXS	Illumina GAIIx	Phase_I	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	21	3073	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	0			Fibronectin type-III 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonstop_Mutation	SNP	ENST00000524871.1	37	c.2734T>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490807	0.44249	.	.	ENSG00000149972	ENST00000527185	.	.	.	5.49	3.02	0.34903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8452	0.52381	0.0:0.0:0.4309:0.5691	.	.	.	.	R	912	.	.	X	+	1	0	CNTN5	99684414	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	1.738000	0.38207	0.393000	0.25203	0.482000	0.46254	TGA		0.393	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		10	19	0	0	0	1	0	10	19				
HERC2P3	283755	broad.mit.edu	37	15	20644684	20644684	+	RNA	SNP	G	G	C			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr15:20644684G>C	ENST00000428453.1	-	0	3187							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACAGGGAAGGGAGACGGCCAC	0.632																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20644684G>C	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644684G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	3187	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.632	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		2	4	0	0	0	1	0	2	4				
