#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
PSME4	23198	broad.mit.edu	37	2	54124014	54124014	+	Silent	SNP	G	G	T			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr2:54124014G>T	ENST00000404125.1	-	32	3670	c.3615C>A	c.(3613-3615)atC>atA	p.I1205I	PSME4_ENST00000421748.2_Silent_p.I349I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1205					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAACAGCTGAGATAGCCATCT	0.353																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(3613-3615)atC>atA		proteasome (prosome, macropain) activator subunit 4							165.0	171.0	169.0					2																	54124014		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54124014G>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3615C>A	2.37:g.54124014G>T						PSME4_ENST00000421748.2_Silent_p.I349I	p.I1205I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		32	3670	-			1205					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.3615C>A	CCDS33197.2																																																																																				0.353	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		33	66	1	0	4.3181e-19	1	4.60597e-19	33	66				
ZNF341	84905	broad.mit.edu	37	20	32336747	32336747	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr20:32336747G>A	ENST00000375200.1	+	4	723	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	ZNF341_ENST00000342427.2_Missense_Mutation_p.V120M	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATACATCACAGTGCCCCCGTC	0.552																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(358-360)Gtg>Atg		zinc finger protein 341							150.0	109.0	123.0					20																	32336747		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32336747G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.358G>A	20.37:g.32336747G>A	ENSP00000364346:p.Val120Met					ZNF341_ENST00000342427.2_Missense_Mutation_p.V120M	p.V120M			Q9BYN7	ZN341_HUMAN			4	723	+			120					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.358G>A		.	.	.	.	.	.	.	.	.	.	G	22.6	4.305009	0.81247	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.13538	2.83;2.58	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.01212	-1.1417	10	0.54805	T	0.06	-22.9712	20.1149	0.97924	0.0:0.0:1.0:0.0	.	61;120;120	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	M	120	ENSP00000344308:V120M;ENSP00000364346:V120M	ENSP00000344308:V120M	V	+	1	0	ZNF341	31800408	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	9.273000	0.95719	2.761000	0.94854	0.650000	0.86243	GTG		0.552	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				10	22	0	0	0	1	0	10	22				
TANK	10010	broad.mit.edu	37	2	162061273	162061273	+	Missense_Mutation	SNP	T	T	C			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr2:162061273T>C	ENST00000392749.2	+	4	535	c.296T>C	c.(295-297)aTt>aCt	p.I99T	TANK_ENST00000405852.1_Missense_Mutation_p.I99T|TANK_ENST00000403609.1_Missense_Mutation_p.I99T|TANK_ENST00000259075.2_Missense_Mutation_p.I99T|TANK_ENST00000457476.1_Missense_Mutation_p.I99T|TANK_ENST00000402568.1_Missense_Mutation_p.I158T|TANK_ENST00000406287.1_Missense_Mutation_p.I157T	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	99					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GATAAAGTGATTTCAGGAATA	0.363																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(295-297)aTt>aCt		TRAF family member-associated NFKB activator							78.0	80.0	80.0					2																	162061273		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162061273T>C	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.296T>C	2.37:g.162061273T>C	ENSP00000376505:p.Ile99Thr					TANK_ENST00000457476.1_Missense_Mutation_p.I99T|TANK_ENST00000259075.2_Missense_Mutation_p.I99T|TANK_ENST00000406287.1_Missense_Mutation_p.I157T|TANK_ENST00000405852.1_Missense_Mutation_p.I99T|TANK_ENST00000402568.1_Missense_Mutation_p.I158T|TANK_ENST00000403609.1_Missense_Mutation_p.I99T	p.I99T	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			4	535	+			99					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.296T>C	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	T	1.040	-0.679184	0.03378	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T	0.28895	2.03;2.03;1.59	5.55	4.35	0.52113	.	0.317042	0.31612	N	0.007349	T	0.15782	0.0380	N	0.08118	0	0.26606	N	0.972927	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.14420	-1.0473	10	0.34782	T	0.22	-8.8569	10.2528	0.43379	0.8324:0.0:0.0:0.1676	.	99;99	Q92844;Q7Z4J6	TANK_HUMAN;.	T	99;100;99;99;99;100;157;158;99;125;99	ENSP00000259075:I99T;ENSP00000376505:I99T;ENSP00000385487:I99T	ENSP00000259075:I99T	I	+	2	0	TANK	161769519	1.000000	0.71417	0.998000	0.56505	0.382000	0.30200	1.962000	0.40442	0.962000	0.38057	-0.503000	0.04515	ATT		0.363	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		15	30	0	0	0	1	0	15	30				
PPRC1	23082	broad.mit.edu	37	10	103904019	103904019	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr10:103904019G>A	ENST00000278070.2	+	7	3602	c.3563G>A	c.(3562-3564)tGt>tAt	p.C1188Y	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.C155Y|PPRC1_ENST00000413464.2_Missense_Mutation_p.C1188Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AAAAAGGAGTGTCCTCCTCCG	0.522																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3562-3564)tGt>tAt		peroxisome proliferator-activated receptor gamma, coactivator-related 1							93.0	87.0	89.0					10																	103904019		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103904019G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3563G>A	10.37:g.103904019G>A	ENSP00000278070:p.Cys1188Tyr					PPRC1_ENST00000370012.1_Missense_Mutation_p.C155Y|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.C1188Y	p.C1188Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	7	3602	+		Colorectal(252;0.122)	1188					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3563G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053112	0.55218	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.32753	1.82;1.82;1.44	5.25	4.28	0.50868	.	0.447688	0.25584	N	0.029676	T	0.30448	0.0765	L	0.36672	1.1	0.27522	N	0.95136	P;P;P	0.51653	0.947;0.924;0.947	P;P;P	0.51135	0.556;0.66;0.556	T	0.11518	-1.0584	10	0.56958	D	0.05	.	7.1033	0.25351	0.0917:0.2701:0.6382:0.0	.	1188;1068;1188	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Y	1188;1188;155	ENSP00000278070:C1188Y;ENSP00000399743:C1188Y;ENSP00000359029:C155Y	ENSP00000278070:C1188Y	C	+	2	0	PPRC1	103894009	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	2.711000	0.47177	2.469000	0.83416	0.491000	0.48974	TGT		0.522	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		16	29	0	0	0	1	0	16	29				
ROBO1	6091	broad.mit.edu	37	3	78719367	78719367	+	Missense_Mutation	SNP	C	C	T			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr3:78719367C>T	ENST00000464233.1	-	11	1540	c.1427G>A	c.(1426-1428)tGt>tAt	p.C476Y	ROBO1_ENST00000467549.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.C437Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	476	Ig-like C2-type 5.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTGGCCACACAGCTGAGGAC	0.517																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1309-1311)tGt>tAt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							50.0	50.0	50.0					3																	78719367		1974	4172	6146	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78719367C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1427G>A	3.37:g.78719367C>T	ENSP00000420321:p.Cys476Tyr					ROBO1_ENST00000495273.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000464233.1_Missense_Mutation_p.C476Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.C440Y	p.C437Y			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	9	2307	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	476			Ig-like C2-type 4.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.1310G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819792	0.90873	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	T;T;T;T;D	0.89123	-0.57;-0.57;-0.57;-0.57;-2.47	5.98	5.98	0.97165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	H	0.99619	4.66	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.98623	1.0668	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	440;440;476;440;440;437	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	Y	437;440;476;440;440;476;9	ENSP00000406043:C437Y;ENSP00000420321:C476Y;ENSP00000420637:C440Y;ENSP00000417992:C440Y;ENSP00000418553:C9Y	.	C	-	2	0	ROBO1	78802057	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	TGT		0.517	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		4	7	0	0	0	1	0	4	7				
PLIN4	729359	broad.mit.edu	37	19	4512008	4512008	+	Missense_Mutation	SNP	G	G	A	rs200977488		TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr19:4512008G>A	ENST00000301286.3	-	3	1921	c.1922C>T	c.(1921-1923)aCg>aTg	p.T641M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	641	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ATTTTGGGTCGTTTTCAGCCC	0.557																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1921-1923)aCg>aTg		perilipin 4		G	MET/THR	0,4132		0,0,2066	146.0	151.0	149.0		1922	4.8	0.1	19		149	1,8369		0,1,4184	yes	missense	PLIN4	NM_001080400.1	81	0,1,6250	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	641/1358	4512008	1,12501	2066	4185	6251	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4512008G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1922C>T	19.37:g.4512008G>A	ENSP00000301286:p.Thr641Met						p.T641M	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1921	-			641			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1922C>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967341	0.53507	0.0	1.19E-4	ENSG00000167676	ENST00000301286	T	0.08634	3.07	4.77	4.77	0.60923	.	0.000000	0.42053	D	0.000774	T	0.29976	0.0750	M	0.84683	2.71	0.26288	N	0.978165	D	0.89917	1.0	D	0.76071	0.987	T	0.10823	-1.0613	10	0.56958	D	0.05	-13.842	11.021	0.47718	0.0931:0.0:0.9069:0.0	.	641	Q96Q06	PLIN4_HUMAN	M	641	ENSP00000301286:T641M	ENSP00000301286:T641M	T	-	2	0	PLIN4	4463008	0.000000	0.05858	0.135000	0.22099	0.005000	0.04900	0.289000	0.18957	2.201000	0.70794	0.289000	0.19496	ACG		0.557	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		4	120	0	0	0	1	0	4	120				
ANKRD55	79722	broad.mit.edu	37	5	55407048	55407048	+	Silent	SNP	C	C	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr5:55407048C>A	ENST00000341048.4	-	10	1678	c.1527G>T	c.(1525-1527)gtG>gtT	p.V509V	ANKRD55_ENST00000504958.2_Silent_p.V466V|ANKRD55_ENST00000434982.2_Silent_p.V221V|ANKRD55_ENST00000505970.2_5'Flank	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	509										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CAGAAGAAGACACAGTCCAAA	0.453																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(1525-1527)gtG>gtT		ankyrin repeat domain 55							142.0	146.0	144.0					5																	55407048		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55407048C>A	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1527G>T	5.37:g.55407048C>A						ANKRD55_ENST00000434982.2_Silent_p.V221V|ANKRD55_ENST00000504958.2_Silent_p.V466V	p.V509V	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			10	1678	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	508					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.1527G>T	CCDS34161.1																																																																																				0.453	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		33	79	1	0	6.02846e-25	1	6.88966e-25	33	79				
JAG2	3714	broad.mit.edu	37	14	105634399	105634399	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr14:105634399G>A	ENST00000331782.3	-	2	515	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	JAG2_ENST00000347004.2_Missense_Mutation_p.R38W|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	38					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTCACGTTCCGCAGCGCGCTC	0.726																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(112-114)Cgg>Tgg		jagged 2							11.0	13.0	12.0					14																	105634399		2132	4145	6277	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105634399G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.112C>T	14.37:g.105634399G>A	ENSP00000328169:p.Arg38Trp					RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.R38W	p.R38W	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	2	515	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	38					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.112C>T	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778260	0.49786	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.97665	-4.48;-4.48	2.33	1.2	0.21068	Notch ligand, N-terminal (1);	0.448802	0.19148	U	0.121501	D	0.95806	0.8635	L	0.27053	0.805	0.31547	N	0.65922	D;D	0.76494	0.998;0.999	P;D	0.65443	0.9;0.935	D	0.93203	0.6593	10	0.87932	D	0	.	8.5247	0.33298	0.0:0.0:0.6429:0.3571	.	38;38	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	W	38	ENSP00000328169:R38W;ENSP00000328566:R38W	ENSP00000328169:R38W	R	-	1	2	JAG2	104705444	0.412000	0.25392	1.000000	0.80357	0.525000	0.34531	0.086000	0.14935	1.170000	0.42753	0.089000	0.15464	CGG		0.726	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			9	16	0	0	0	1	0	9	16				
SPDYE3	441272	broad.mit.edu	37	7	99912168	99912168	+	Missense_Mutation	SNP	T	T	G			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr7:99912168T>G	ENST00000332397.6	+	6	1180	c.996T>G	c.(994-996)gaT>gaG	p.D332E	SPDYE3_ENST00000437326.2_De_novo_Start_OutOfFrame	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	332										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CTGGGGTAGATCCCAGCCCCC	0.572																																						ENST00000437326.2																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20								speedy/RINGO cell cycle regulator family member E3																																				SO:0001583	missense	441272							g.chr7:99912168T>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.996T>G	7.37:g.99912168T>G	ENSP00000329565:p.Asp332Glu					SPDYE3_ENST00000332397.6_Missense_Mutation_p.D332E				A6NKU9	SPDE3_HUMAN			0	1180	+								Q495Y9|Q6PHC4	Translation_Start_Site	SNP	ENST00000332397.6	37		CCDS47658.2	.	.	.	.	.	.	.	.	.	.	T	1.458	-0.563169	0.03939	.	.	ENSG00000214300	ENST00000332397	.	.	.	.	.	.	.	.	.	.	.	T	0.26376	0.0644	L	0.29908	0.895	0.09310	N	0.999997	.	.	.	.	.	.	T	0.26121	-1.0112	4	0.37606	T	0.19	.	.	.	.	.	.	.	.	E	332	.	ENSP00000329565:D332E	D	+	3	2	SPDYE3	99750104	0.998000	0.40836	0.031000	0.17742	0.032000	0.12392	0.670000	0.25157	0.131000	0.18576	0.130000	0.15844	GAT		0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		17	12	0	0	0	1	0	17	12				
FAM166A	401565	broad.mit.edu	37	9	140139813	140139813	+	Silent	SNP	C	C	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr9:140139813C>A	ENST00000344774.4	-	3	522	c.468G>T	c.(466-468)ggG>ggT	p.G156G	FAM166A_ENST00000388932.2_Silent_p.G156G	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	156						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						AGGCCTCTTCCCCGTATACTG	0.657																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(466-468)ggG>ggT		family with sequence similarity 166, member A							75.0	76.0	76.0					9																	140139813		2203	4300	6503	SO:0001819	synonymous_variant	401565							g.chr9:140139813C>A	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.468G>T	9.37:g.140139813C>A						FAM166A_ENST00000388932.2_Silent_p.G156G	p.G156G	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			3	522	-			156					A6NND9|Q8N830	Silent	SNP	ENST00000344774.4	37	c.468G>T	CCDS35186.1																																																																																				0.657	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		12	32	1	0	4.3838e-07	1	4.3838e-07	12	32				
PLEKHA7	144100	broad.mit.edu	37	11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr11:16823313G>A	ENST00000355661.3	-	16	2219	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	737					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCTGGTCTCGGTACTGCTCC	0.557																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2209-2211)Cga>Tga		pleckstrin homology domain containing, family A member 7							114.0	104.0	107.0					11																	16823313		2200	4294	6494	SO:0001587	stop_gained	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16823313G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2209C>T	11.37:g.16823313G>A	ENSP00000347883:p.Arg737*					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*	p.R737*			Q6IQ23	PKHA7_HUMAN			16	2219	-			737					B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	37	c.2209C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682262	0.98431	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581	.	.	.	5.88	3.84	0.44239	.	0.164390	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-10.7591	13.1816	0.59657	0.0:0.0:0.5978:0.4022	.	.	.	.	X	737;737;737;68	.	ENSP00000347883:R737X	R	-	1	2	PLEKHA7	16779889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.648000	0.46647	0.753000	0.32945	0.555000	0.69702	CGA		0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		12	23	0	0	0	1	0	12	23				
ABCC9	10060	broad.mit.edu	37	12	22025622	22025622	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr12:22025622G>A	ENST00000261201.4	-	16	2134	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.S712F|ABCC9_ENST00000345162.2_Missense_Mutation_p.S676F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	712	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GAGAAGAGAGGACTTCCCACA	0.418																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2134-2136)tCc>tTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						250.0	241.0	244.0					12																	22025622		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22025622G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2135C>T	12.37:g.22025622G>A	ENSP00000261201:p.Ser712Phe					ABCC9_ENST00000345162.2_Missense_Mutation_p.S676F|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.S712F	p.S712F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			16	2134	-			712			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2135C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886526	0.91814	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.053864	0.85682	D	0.000000	D	0.99324	0.9763	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98607	1.0661	10	0.87932	D	0	-10.9076	19.4298	0.94759	0.0:0.0:1.0:0.0	.	712;712	O60706;O60706-2	ABCC9_HUMAN;.	F	712;339;712;676	ENSP00000261200:S712F;ENSP00000440521:S339F;ENSP00000261201:S712F;ENSP00000261202:S676F	ENSP00000261200:S712F	S	-	2	0	ABCC9	21916889	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.581000	0.98210	2.757000	0.94681	0.563000	0.77884	TCC		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		41	121	0	0	0	1	0	41	121				
MIR99AHG	388815	broad.mit.edu	37	21	17763944	17763944	+	lincRNA	SNP	T	T	A			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr21:17763944T>A	ENST00000458468.1	+	0	469					NR_027790.1																						GAGCTCTTTCTGAGATGAAGA	0.308																																						ENST00000458468.1																			0																				59.0	60.0	60.0					21																	17763944		2203	4300	6503			388815							g.chr21:17763944T>A																													21.37:g.17763944T>A								NR_027790.1						0	469	+									RNA	SNP	ENST00000458468.1	37																																																																																						0.308	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			3	51	0	0	0	1	0	3	51				
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		8	187						8	187	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35692572	35692572	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr13:35692572delC	ENST00000400445.3	+	16	2738	c.2204delC	c.(2203-2205)gccfs	p.A735fs	NBEA_ENST00000540320.1_Frame_Shift_Del_p.A735fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.A735fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.A735fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	735					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAACACCCAGCCTCAATGATA	0.333																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(2203-2205)gcfs		neurobeachin							51.0	45.0	47.0					13																	35692572		1842	4075	5917	SO:0001589	frameshift_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35692572delC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2204delC	13.37:g.35692572delC	ENSP00000383295:p.Ala735fs					NBEA_ENST00000400445.3_Frame_Shift_Del_p.A735fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.A735fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.A735fs	p.A735fs			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	16	2738	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	735					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	ENST00000400445.3	37	c.2204delC	CCDS45026.1																																																																																				0.333	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		2	4						2	4	---	---	---	---
BAHD1	22893	broad.mit.edu	37	15	40758272	40758272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr15:40758272delC	ENST00000416165.1	+	7	2357	c.2286delC	c.(2284-2286)ttcfs	p.F762fs	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Frame_Shift_Del_p.F759fs|BAHD1_ENST00000561234.1_Frame_Shift_Del_p.F761fs	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	762	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		AGCTGGTGTTCCTTTGCCGCC	0.632																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(2281-2283)ttfs		bromo adjacent homology domain containing 1							119.0	119.0	119.0					15																	40758272		2203	4300	6503	SO:0001589	frameshift_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40758272delC	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2286delC	15.37:g.40758272delC	ENSP00000396976:p.Phe762fs					BAHD1_ENST00000416165.1_Frame_Shift_Del_p.F762fs|BAHD1_ENST00000560846.1_Frame_Shift_Del_p.F759fs|RP11-64K12.8_ENST00000559730.1_RNA	p.F761fs			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	7	2542	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	762			BAH.		Q8NDF7|Q9Y2F4	Frame_Shift_Del	DEL	ENST00000416165.1	37	c.2283delC	CCDS10058.1																																																																																				0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		24	75						24	75	---	---	---	---
VTN	7448	broad.mit.edu	37	17	26699156	26699156	+	5'Flank	DEL	G	G	-			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr17:26699156delG	ENST00000226218.4	-	0	0				SARM1_ENST00000457710.3_Start_Codon_Del|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	TGGGCCAGATGGGGGCGGTGG	0.751																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12								sterile alpha and TIR motif containing 1							1.0	1.0	1.0					17																	26699156		1212	2645	3857	SO:0001631	upstream_gene_variant	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26699156delG	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699156delG	Exception_encountered					CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron		NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	0	474	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)							B2R7G0|P01141|Q9BSH7	Translation_Start_Site	DEL	ENST00000226218.4	37		CCDS11229.1																																																																																				0.751	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		2	4						2	4	---	---	---	---
