#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
ITGAM	3684	broad.mit.edu	37	16	31283280	31283280	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr16:31283280G>A	ENST00000287497.8	+	7	746	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	ITGAM_ENST00000544665.3_Missense_Mutation_p.R224Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	224	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGCTTGGGCGGACACACACG	0.512																																						uc002ebr.3																			0		p.G223W(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(670-672)cGg>cAg		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							94.0	92.0	92.0					16																	31283280		1984	4200	6184	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31283280G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.671G>A	16.37:g.31283280G>A	ENSP00000287497:p.Arg224Gln					ITGAM_uc002ebq.3_Missense_Mutation_p.R224Q	p.R224Q	NM_001145808	NP_001139280	P11215	ITAM_HUMAN			6	769	+			224			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.671G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971422	0.34754	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.83075	-1.68;-1.68	5.5	-8.27	0.01017	von Willebrand factor, type A (3);	.	.	.	.	T	0.65069	0.2656	L	0.37630	1.12	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.49753	-0.8906	9	0.29301	T	0.29	.	1.3602	0.02190	0.2577:0.3505:0.1255:0.2664	.	224;224	Q4VAK1;P11215	.;ITAM_HUMAN	Q	224	ENSP00000441691:R224Q;ENSP00000287497:R224Q	ENSP00000287497:R224Q	R	+	2	0	ITGAM	31190781	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.499000	0.00968	-1.091000	0.03065	0.561000	0.74099	CGG		0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		4	142	0	0	0	1	0	4	142				
ZBTB22	9278	broad.mit.edu	37	6	33283858	33283858	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:33283858G>T	ENST00000431845.2	-	2	987	c.836C>A	c.(835-837)gCt>gAt	p.A279D	TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A279D|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCGGAGCCCAGCCCCAGGAAC	0.617																																						uc003oeb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(835-837)gCt>gAt		Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.							70.0	60.0	63.0					6																	33283858		2203	4299	6502	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283858G>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.836C>A	6.37:g.33283858G>T	ENSP00000407545:p.Ala279Asp					TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.A279D|ZBTB22_uc021ywm.1_Missense_Mutation_p.A279D	p.A279D	NM_005453	NP_005444	O15209	ZBT22_HUMAN			1	988	-			279					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.836C>A	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607511	0.28623	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06849	3.25;3.25	4.12	3.24	0.37175	.	0.798338	0.10239	N	0.698680	T	0.02267	0.0070	L	0.29908	0.895	0.24621	N	0.993678	B	0.17667	0.023	B	0.15870	0.014	T	0.44283	-0.9338	10	0.34782	T	0.22	.	9.7324	0.40370	0.0:0.2107:0.7893:0.0	.	279	O15209	ZBT22_HUMAN	D	279	ENSP00000404403:A279D;ENSP00000407545:A279D	ENSP00000404403:A279D	A	-	2	0	ZBTB22	33391836	0.892000	0.30473	0.997000	0.53966	0.579000	0.36224	3.792000	0.55476	0.933000	0.37291	0.448000	0.29417	GCT		0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			24	59	0	0	0	1	0	24	59				
HGD	3081	broad.mit.edu	37	3	120389285	120389285	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr3:120389285C>G	ENST00000283871.5	-	4	730	c.271G>C	c.(271-273)Gat>Cat	p.D91H	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	91					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGGTTAGGATCAGGATCAACT	0.418																																						uc003edw.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(271-273)Gat>Cat		Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.							142.0	138.0	140.0					3																	120389285		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120389285C>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.271G>C	3.37:g.120389285C>G	ENSP00000283871:p.Asp91His						p.D91H	NM_000187	NP_000178	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	3	731	-			91					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.271G>C	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703103	0.88924	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.98968	-5.28;-5.28	6.06	6.06	0.98353	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	M	0.67953	2.075	0.80722	D	1	P	0.45176	0.852	P	0.55222	0.771	D	0.99331	1.0909	10	0.62326	D	0.03	-10.1386	18.1221	0.89574	0.0:1.0:0.0:0.0	.	91	Q93099	HGD_HUMAN	H	91;50	ENSP00000283871:D91H;ENSP00000419560:D50H	ENSP00000283871:D91H	D	-	1	0	HGD	121871975	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.498000	0.73679	2.871000	0.98454	0.655000	0.94253	GAT		0.418	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			26	72	0	0	0	1	0	26	72				
TJP1	7082	broad.mit.edu	37	15	30012630	30012630	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr15:30012630A>C	ENST00000346128.6	-	19	3169	c.2695T>G	c.(2695-2697)Tca>Gca	p.S899A	TJP1_ENST00000356107.6_Missense_Mutation_p.S899A|TJP1_ENST00000400011.2_Missense_Mutation_p.S903A|TJP1_ENST00000545208.2_Missense_Mutation_p.S899A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	899					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCTTGTGGTGAGTAAGGAGGA	0.483																																					Melanoma(77;681 1843 6309 6570)	uc010azl.3																			0		p.S886P(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2659-2661)Tca>Gca		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							201.0	199.0	200.0					15																	30012630		1993	4168	6161	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		g.chr15:30012630A>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2695T>G	15.37:g.30012630A>C	ENSP00000281537:p.Ser899Ala					TJP1_uc001zcq.3_Missense_Mutation_p.S903A|TJP1_uc001zcr.3_Missense_Mutation_p.S899A|TJP1_uc001zcs.3_Missense_Mutation_p.S899A	p.S887A	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	17	2668	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	899					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.2659T>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	A	8.796	0.931772	0.18131	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.05786	3.39;3.49;3.41;3.39	5.93	2.29	0.28610	.	0.270748	0.37577	N	0.002023	T	0.04318	0.0119	L	0.31294	0.92	0.80722	D	1	B;B;B;B	0.12630	0.002;0.006;0.002;0.001	B;B;B;B	0.13407	0.004;0.009;0.002;0.002	T	0.46789	-0.9166	9	.	.	.	.	5.7604	0.18196	0.4541:0.3283:0.2176:0.0	.	892;899;899;903	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	899;903;899;899;899	ENSP00000281537:S899A;ENSP00000382890:S903A;ENSP00000441202:S899A;ENSP00000348416:S899A	.	S	-	1	0	TJP1	27799922	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	2.957000	0.49137	0.134000	0.18681	0.533000	0.62120	TCA		0.483	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		28	78	0	0	0	1	0	28	78				
SMC3	9126	broad.mit.edu	37	10	112335096	112335096	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr10:112335096A>G	ENST00000361804.4	+	4	259	c.133A>G	c.(133-135)Att>Gtt	p.I45V	snoU13_ENST00000458966.1_RNA|SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	45					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTTCCAGCAATTCAGTTTGT	0.338																																						uc001kze.3																			0		p.A44V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(133-135)Att>Gtt		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							136.0	129.0	131.0					10																	112335096		2203	4300	6503	SO:0001583	missense	9126				DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112335096A>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.133A>G	10.37:g.112335096A>G	ENSP00000354720:p.Ile45Val						p.I45V	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	3	259	+		Breast(234;0.0848)|Lung NSC(174;0.238)	45					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.133A>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456895	0.84317	.	.	ENSG00000108055	ENST00000361804	D	0.93307	-3.2	5.49	5.49	0.81192	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	D	0.93441	0.6794	10	0.25751	T	0.34	.	15.8835	0.79222	1.0:0.0:0.0:0.0	.	45	Q9UQE7	SMC3_HUMAN	V	45	ENSP00000354720:I45V	ENSP00000354720:I45V	I	+	1	0	SMC3	112325086	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.818000	0.91991	2.212000	0.71576	0.460000	0.39030	ATT		0.338	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		17	26	0	0	0	1	0	17	26				
G6PD	2539	broad.mit.edu	37	X	153763439	153763439	+	Silent	SNP	G	G	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chrX:153763439G>C	ENST00000393564.2	-	5	541	c.429C>G	c.(427-429)ccC>ccG	p.P143P	G6PD_ENST00000393562.2_Silent_p.P173P|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Silent_p.P143P	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	143					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACGGTCGGGGGCAAGGCCA	0.627																																						uc004flx.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(517-519)ccC>ccG		Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA.							127.0	101.0	110.0					X																	153763439		2203	4300	6503	SO:0001819	synonymous_variant	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity	g.chrX:153763439G>C	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.429C>G	X.37:g.153763439G>C						G6PD_uc004fly.1_Silent_p.P143P	p.P173P	NM_000402	NP_001035810	P11413	G6PD_HUMAN			4	667	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		143					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.519C>G	CCDS44023.1																																																																																				0.627	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		4	170	0	0	0	1	0	4	170				
COL4A2	1284	broad.mit.edu	37	13	111099179	111099179	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr13:111099179C>T	ENST00000360467.5	+	18	1352	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	349	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGACTACCTGCCTACTCC	0.483																																						uc001vqx.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1045-1047)cCt>cTt		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							120.0	127.0	125.0					13																	111099179		1869	4100	5969	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111099179C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1046C>T	13.37:g.111099179C>T	ENSP00000353654:p.Pro349Leu						p.P349L	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		17	1335	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	349			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1046C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	2.456	-0.325323	0.05350	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96885	-4.16	4.95	3.21	0.36854	.	0.268126	0.26514	N	0.023948	D	0.94052	0.8094	M	0.78637	2.42	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	D	0.84626	0.0687	10	0.23302	T	0.38	.	6.5958	0.22672	0.0:0.7888:0.0:0.2112	.	349	P08572	CO4A2_HUMAN	L	349	ENSP00000353654:P349L	ENSP00000257309:P349L	P	+	2	0	COL4A2	109897180	0.008000	0.16893	0.067000	0.19924	0.370000	0.29829	1.309000	0.33539	1.086000	0.41228	0.462000	0.41574	CCT		0.483	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		5	162	0	0	0	1	0	5	162				
EGFL8	80864	broad.mit.edu	37	6	32135285	32135285	+	Silent	SNP	C	C	T	rs146401113		TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:32135285C>T	ENST00000395512.1	+	8	792	c.687C>T	c.(685-687)gcC>gcT	p.A229A	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Silent_p.A229A|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	229						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCTAGTGGGCCGGTCAGGCTG	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16238	0.0		0.0	False		,,,				2504	0.0					uc003oab.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(685-687)gcC>gcT		Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.		C		2,3016		0,2,1507	59.0	68.0	65.0		687	-11.2	0.0	6	dbSNP_134	65	0,5418		0,0,2709	no	coding-synonymous	EGFL8	NM_030652.3		0,2,4216	TT,TC,CC		0.0,0.0663,0.0237		229/294	32135285	2,8434	1509	2709	4218	SO:0001819	synonymous_variant	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32135285C>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.687C>T	6.37:g.32135285C>T						EGFL8_uc003nzy.2_Non-coding_Transcript|EGFL8_uc003oac.1_Silent_p.A229A	p.A229A	NM_030652	NP_085155	Q99944	EGFL8_HUMAN			7	794	+			229					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	ENST00000395512.1	37	c.687C>T	CCDS4743.1																																																																																				0.677	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		26	48	0	0	0	1	0	26	48				
GNG5	2787	broad.mit.edu	37	1	84967626	84967626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr1:84967626G>A	ENST00000370641.3	-	2	582	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	GNG5_ENST00000487806.1_5'UTR|GNG5_ENST00000370645.4_Nonsense_Mutation_p.Q37*			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	37					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|PDZ domain binding (GO:0030165)|signal transducer activity (GO:0004871)			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGACAGAACTGTTTCAAGTCT	0.438																																						uc001djw.4																			0		p.K36N(1)		lung(1)|skin(1)	2						c.(109-111)Cag>Tag		Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.							44.0	49.0	47.0					1																	84967626		2203	4300	6503	SO:0001587	stop_gained	2787				G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr1:84967626G>A	AF038955	CCDS696.1	1p22	2014-05-14			ENSG00000174021	ENSG00000174021			4408	protein-coding gene	gene with protein product		600874				7606925	Standard	NM_005274		Approved		uc001djw.4	P63218	OTTHUMG00000009858	ENST00000370641.3:c.109C>T	1.37:g.84967626G>A	ENSP00000359675:p.Gln37*						p.Q37*	NM_005274	NP_005265	P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	2	463	-			37					B2R5A0|P30670|Q5VX54|Q61015	Nonsense_Mutation	SNP	ENST00000370641.3	37	c.109C>T	CCDS696.1	.	.	.	.	.	.	.	.	.	.	G	40	7.971623	0.98588	.	.	ENSG00000174021	ENST00000370645;ENST00000370641	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000359675:Q37X	Q	-	1	0	GNG5	84740214	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.174000	0.71943	2.826000	0.97356	0.655000	0.94253	CAG		0.438	GNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027240.1	NM_005274		14	34	0	0	0	1	0	14	34				
INTS1	26173	broad.mit.edu	37	7	1516466	1516466	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:1516466C>G	ENST00000404767.3	-	36	5112	c.5027G>C	c.(5026-5028)tGc>tCc	p.C1676S	INTS1_ENST00000389470.4_Missense_Mutation_p.C1875S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1676					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GACTCGGATGCACTGGTGCAG	0.652																																						uc003skn.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(5026-5028)tGc>tCc		Homo sapiens integrator complex subunit 1 (INTS1), mRNA.							61.0	74.0	70.0					7																	1516466		2082	4203	6285	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1516466C>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5027G>C	7.37:g.1516466C>G	ENSP00000385722:p.Cys1676Ser						p.C1676S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	35	5128	-		Ovarian(82;0.0253)	1676					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5027G>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319813	0.60634	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.64803	-0.12;-0.12	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	L	0.60455	1.87	0.47441	D	0.999426	P	0.36183	0.542	B	0.41202	0.35	T	0.67352	-0.5692	10	0.48119	T	0.1	.	18.5081	0.90905	0.0:1.0:0.0:0.0	.	1676	Q8N201	INT1_HUMAN	S	1676;1875	ENSP00000385722:C1676S;ENSP00000374121:C1875S	ENSP00000374121:C1875S	C	-	2	0	INTS1	1482992	1.000000	0.71417	0.798000	0.32154	0.450000	0.32258	4.713000	0.61895	2.392000	0.81423	0.561000	0.74099	TGC		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			13	27	0	0	0	1	0	13	27				
MOB4	25843	broad.mit.edu	37	2	198413081	198413081	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:198413081A>G	ENST00000323303.4	+	6	631	c.376A>G	c.(376-378)Aga>Gga	p.R126G	MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_Missense_Mutation_p.R27G|MOB4_ENST00000409360.1_Missense_Mutation_p.R94G|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.R162G|MOB4_ENST00000233892.4_Missense_Mutation_p.R94G|MOB4_ENST00000448447.2_Missense_Mutation_p.R105G	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	126					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										AGACTATACTAGACACACACT	0.323																																						uc021vum.1																			0											c.(484-486)Aga>Gga		Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.							85.0	84.0	84.0					2																	198413081		2203	4300	6503	SO:0001583	missense	100529241							g.chr2:198413081A>G	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.376A>G	2.37:g.198413081A>G	ENSP00000315702:p.Arg126Gly					HSPE1-MOB4_uc002uum.4_Missense_Mutation_p.R94G|HSPE1-MOB4_uc002uun.4_Missense_Mutation_p.R126G|HSPE1-MOB4_uc010fsn.3_Missense_Mutation_p.R105G|HSPE1-MOB4_uc010fso.3_Missense_Mutation_p.R27G|HSPE1-MOB4_uc010zgz.2_Missense_Mutation_p.R27G|HSPE1-MOB4_uc021vun.1_Missense_Mutation_p.R94G	p.R162G	NM_001202485	NP_001189414					6	924	+								B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.484A>G	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195283	0.78902	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.87547	2.89	0.80722	D	1	P;P	0.41673	0.716;0.759	B;P	0.46585	0.386;0.521	T	0.72557	-0.4257	9	0.21540	T	0.41	.	15.3602	0.74469	1.0:0.0:0.0:0.0	.	105;126	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	G	94;27;126;105;94	.	ENSP00000233892:R94G	R	+	1	2	PHOCN	198121326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.916000	0.75776	2.083000	0.62718	0.455000	0.32223	AGA		0.323	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		10	57	0	0	0	1	0	10	57				
TBL2	26608	broad.mit.edu	37	7	72992835	72992835	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:72992835C>A	ENST00000305632.5	-	1	286	c.45G>T	c.(43-45)ttG>ttT	p.L15F	TBL2_ENST00000452475.1_Missense_Mutation_p.L15F|TBL2_ENST00000432538.1_5'Flank|TBL2_ENST00000459913.1_5'Flank	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	15							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGCCCAAGCAACACCGACA	0.711																																						uc003tyh.3																			0		p.V14L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(43-45)ttG>ttT		Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.							15.0	15.0	15.0					7																	72992835		2195	4291	6486	SO:0001583	missense	26608							g.chr7:72992835C>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.45G>T	7.37:g.72992835C>A	ENSP00000307260:p.Leu15Phe					TBL2_uc011kex.2_5'Flank|TBL2_uc010lbg.3_5'UTR|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_5'UTR	p.L15F	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			0	179	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	15					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.45G>T	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345674	0.82022	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000452475	T;T	0.71461	0.07;-0.57	5.5	4.6	0.57074	.	0.000000	0.64402	D	0.000001	T	0.63908	0.2551	L	0.55481	1.735	0.46222	D	0.998937	B	0.14805	0.011	B	0.12837	0.008	T	0.58640	-0.7601	10	0.26408	T	0.33	-7.6921	11.6212	0.51119	0.1779:0.8221:0.0:0.0	.	15	Q9Y4P3	TBL2_HUMAN	F	15	ENSP00000307260:L15F;ENSP00000407371:L15F	ENSP00000307260:L15F	L	-	3	2	TBL2	72630771	0.233000	0.23772	0.997000	0.53966	0.968000	0.65278	0.293000	0.19029	1.306000	0.44926	0.555000	0.69702	TTG		0.711	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		7	14	0	0	0	1	0	7	14				
YLPM1	56252	broad.mit.edu	37	14	75230940	75230940	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr14:75230940C>T	ENST00000552421.1	+	1	872	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P250S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P250S			P49750	YLPM1_HUMAN	YLP motif containing 1	250					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCACCACCACCGTCCGCCCC	0.567																																						uc001xqj.4																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(748-750)Ccg>Tcg		Homo sapiens YLP motif containing 1 (YLPM1), mRNA.							73.0	76.0	75.0					14																	75230940		1898	4119	6017	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230940C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.748C>T	14.37:g.75230940C>T	ENSP00000447921:p.Pro250Ser						p.P250S	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	0	872	+			90					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	C	0.038	-1.296040	0.01375	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.20881	2.04;2.04;2.04	3.98	1.16	0.20824	.	0.653027	0.13367	N	0.393218	T	0.08044	0.0201	N	0.03608	-0.345	0.09310	N	0.999997	B	0.14012	0.009	B	0.10450	0.005	T	0.35871	-0.9771	10	0.27785	T	0.31	-1.0209	6.0418	0.19738	0.0:0.665:0.0:0.335	.	250	P49750-4	.	S	250	ENSP00000447921:P250S;ENSP00000324463:P250S;ENSP00000238571:P250S	ENSP00000238571:P250S	P	+	1	0	YLPM1	74300693	0.021000	0.18746	0.331000	0.25455	0.002000	0.02628	1.199000	0.32235	0.127000	0.18452	-0.140000	0.14226	CCG		0.567	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		10	39	0	0	0	1	0	10	39				
OR52R1	119695	broad.mit.edu	37	11	4825377	4825377	+	Silent	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr11:4825377G>A	ENST00000356069.2	-	1	233	c.234C>T	c.(232-234)tcC>tcT	p.S78S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Silent_p.S157S	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGAGTGGAGGAGGAGAGGA	0.488																																						uc021qcs.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(232-234)tcC>tcT		Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.							123.0	108.0	113.0					11																	4825377		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825377G>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.234C>T	11.37:g.4825377G>A							p.S78S	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	234	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	78					Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.234C>T	CCDS31360.2																																																																																				0.488	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		3	56	0	0	0	1	0	3	56				
EPPK1	83481	broad.mit.edu	37	8	144941609	144941609	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr8:144941609C>T	ENST00000525985.1	-	2	5884	c.5813G>A	c.(5812-5814)gGg>gAg	p.G1938E				P58107	EPIPL_HUMAN	epiplakin 1	1938						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGAGGAACCCGGTGGCGGC	0.652																																						uc003zaa.1																			0		p.G1938W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5812-5814)gGg>gAg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							33.0	41.0	38.0					8																	144941609		2011	4157	6168	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941609C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5813G>A	8.37:g.144941609C>T	ENSP00000436337:p.Gly1938Glu						p.G1938E	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	5826	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1938					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5813G>A		.	.	.	.	.	.	.	.	.	.	C	18.40	3.616448	0.66672	.	.	ENSG00000227184	ENST00000525985	D	0.87179	-2.22	4.73	4.73	0.59995	.	.	.	.	.	D	0.93739	0.7999	M	0.85041	2.73	0.47341	D	0.999398	D	0.89917	1.0	D	0.97110	1.0	D	0.94590	0.7787	9	0.87932	D	0	.	15.2258	0.73352	0.0:1.0:0.0:0.0	.	1938	E9PPU0	.	E	1938	ENSP00000436337:G1938E	ENSP00000436337:G1938E	G	-	2	0	EPPK1	145013597	1.000000	0.71417	0.812000	0.32479	0.029000	0.11900	7.523000	0.81856	2.459000	0.83118	0.585000	0.79938	GGG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	52	0	0	0	1	0	4	52				
ZNF260	339324	broad.mit.edu	37	19	37005674	37005674	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:37005674T>G	ENST00000523638.1	-	3	1588	c.467A>C	c.(466-468)aAa>aCa	p.K156T	ZNF260_ENST00000588993.1_Missense_Mutation_p.K156T|ZNF260_ENST00000592282.1_Missense_Mutation_p.K156T|ZNF260_ENST00000593142.1_Missense_Mutation_p.K156T	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	156					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AGTATGAATTTTCTCATGCTC	0.398																																						uc002oee.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(466-468)aAa>aCa		Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.							176.0	181.0	179.0					19																	37005674		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005674T>G	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.467A>C	19.37:g.37005674T>G	ENSP00000429803:p.Lys156Thr					ZNF260_uc010eey.2_Missense_Mutation_p.K156T|ZNF260_uc002oef.2_Missense_Mutation_p.K156T|ZNF260_uc002oed.2_Missense_Mutation_p.K156T|ZNF260_uc021uti.1_Missense_Mutation_p.K156T	p.K156T	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN			3	1389	-	Esophageal squamous(110;0.162)		156					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.467A>C	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185476	0.57909	.	.	ENSG00000254004	ENST00000523638	T	0.24908	1.83	4.69	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.59967	1.855	0.31539	N	0.660202	B	0.24043	0.096	B	0.21917	0.037	T	0.18587	-1.0332	9	0.62326	D	0.03	.	6.923	0.24399	0.0:0.3601:0.0:0.6399	.	156	Q3ZCT1	ZN260_HUMAN	T	156	ENSP00000429803:K156T	ENSP00000429803:K156T	K	-	2	0	ZNF260	41697514	0.000000	0.05858	0.970000	0.41538	0.994000	0.84299	-1.188000	0.03064	0.378000	0.24764	0.459000	0.35465	AAA		0.398	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		38	87	0	0	0	1	0	38	87				
PMS1	5378	broad.mit.edu	37	2	190732589	190732589	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:190732589A>G	ENST00000441310.2	+	11	2640	c.2407A>G	c.(2407-2409)Agt>Ggt	p.S803G	PMS1_ENST00000409823.3_Missense_Mutation_p.S764G|PMS1_ENST00000418224.3_Missense_Mutation_p.S627G|PMS1_ENST00000447232.2_Missense_Mutation_p.S641G|PMS1_ENST00000432292.3_Missense_Mutation_p.S627G	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	803					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CCAAAGATACAGTGGATCAAC	0.323			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.4			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2407-2409)Agt>Ggt	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.							118.0	116.0	117.0					2																	190732589		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190732589A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2407A>G	2.37:g.190732589A>G	ENSP00000406490:p.Ser803Gly					PMS1_uc002urk.4_Missense_Mutation_p.S764G|PMS1_uc002uri.4_Missense_Mutation_p.S641G|PMS1_uc010zgc.2_Missense_Mutation_p.S627G|PMS1_uc010zgd.2_Missense_Mutation_p.S627G|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Intron|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.S426G|PMS1_uc002urm.3_Non-coding_Transcript	p.S803G	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2936	+			803					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2407A>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625025	0.28889	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593;ENST00000452382	T;T;T;D;T;D;T	0.96745	1.76;1.76;1.76;-2.94;1.76;-4.11;1.76	5.41	-1.06	0.10002	.	0.403818	0.30401	N	0.009706	D	0.91912	0.7439	M	0.64997	1.995	0.09310	N	0.999998	B;B;B;B	0.31769	0.092;0.339;0.001;0.224	B;B;B;B	0.27500	0.02;0.08;0.002;0.08	T	0.82499	-0.0427	10	0.21540	T	0.41	-1.3414	6.3741	0.21497	0.4353:0.2318:0.3329:0.0	.	426;764;641;803	Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;PMS1_HUMAN	G	803;627;764;641;627;426;191	ENSP00000406490:S803G;ENSP00000404492:S627G;ENSP00000387125:S764G;ENSP00000401064:S641G;ENSP00000398378:S627G;ENSP00000387169:S426G;ENSP00000396232:S191G	ENSP00000387169:S426G	S	+	1	0	PMS1	190440834	0.036000	0.19791	0.035000	0.18076	0.738000	0.42128	0.533000	0.23082	-0.181000	0.10619	0.477000	0.44152	AGT		0.323	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			16	30	0	0	0	1	0	16	30				
LMX1B	4010	broad.mit.edu	37	9	129456049	129456051	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr9:129456049_129456051delCAG	ENST00000373474.4	+	6	851_853	c.844_846delCAG	c.(844-846)cagdel	p.Q285del	LMX1B_ENST00000561065.1_In_Frame_Del_p.Q262del|LMX1B_ENST00000425646.2_In_Frame_Del_p.Q262del|LMX1B_ENST00000526117.1_In_Frame_Del_p.Q285del|LMX1B_ENST00000355497.5_In_Frame_Del_p.Q285del			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	285	Poly-Gln.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGGCGGCACCAGCAGCAGCAGG	0.754									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc011maa.2																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(844-846)cagdel		Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129456049_129456051delCAG	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.844_846delCAG	9.37:g.129456058_129456060delCAG	ENSP00000362573:p.Gln285del					LMX1B_uc004bqi.3_In_Frame_Del_p.Q285del|LMX1B_uc004bqj.3_In_Frame_Del_p.Q285del	p.Q285del	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN			5	851_853	+			262					F8W7W6|O75463|Q5JU95|Q6ISC9	In_Frame_Del	DEL	ENST00000373474.4	37	c.844_846delCAG	CCDS55342.1																																																																																				0.754	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			2	4						2	4	---	---	---	---
GRIN2D	2906	broad.mit.edu	37	19	48946470	48946471	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:48946470_48946471insC	ENST00000263269.3	+	13	3375_3376	c.3287_3288insC	c.(3286-3291)tgccgcfs	p.R1097fs	GRWD1_ENST00000253237.5_5'Flank	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1097				R -> C (in Ref. 1; AAC15910). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ccgcccccgtgccgcgccgcgc	0.817																																						uc002pjc.4																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(3286-3288)tgcfs		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)																																			SO:0001589	frameshift_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48946470_48946471insC	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.3289dupC	19.37:g.48946472_48946472dupC	ENSP00000263269:p.Arg1097fs					GRIN2D_uc010elx.3_Frame_Shift_Ins_p.C331fs|GRWD1_uc002pjd.2_5'Flank	p.C1096fs	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	3375_3376	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	1096						Frame_Shift_Ins	INS	ENST00000263269.3	37	c.3287_3288insC	CCDS12719.1																																																																																				0.817	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			2	4						2	4	---	---	---	---
