#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
TRAV36DV7	28646	broad.mit.edu	37	14	22695051	22695051	+	RNA	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr14:22695051G>A	ENST00000390463.3	+	0	258									T cell receptor alpha variable 36/delta variable 7																		AAGTCAGGAAGACTAAGTAGC	0.438																																						uc010ajp.1																			0											c.(241-243)aGa>aAa		SubName: Full=HADV36S1; Flags: Fragment;							20.0	22.0	22.0					14																	22695051		1908	4142	6050			0							g.chr14:22695051G>A	AE000660		14q11.2	2012-02-07			ENSG00000211815	ENSG00000211815		"""T cell receptors / TRA locus"""	12135	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV36/DV7			OTTHUMG00000170666		14.37:g.22695051G>A						TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc021rpw.1_Non-coding_Transcript	p.R81K							1	287	+									Missense_Mutation	SNP	ENST00000390463.3	37	c.242G>A																																																																																					0.438	TRAV36DV7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409914.1	NG_001332		21	36	0	0	0	1	0	21	36				
IFNL3	282617	broad.mit.edu	37	19	39734513	39734513	+	Missense_Mutation	SNP	C	C	T	rs146276429		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:39734513C>T	ENST00000413851.2	-	4	481	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	148					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GAGGCGGCCCCGGGTCCTGGG	0.692																																						uc010xut.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(442-444)cGg>cAg		Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.		T	GLN/ARG	0,4392		0,0,2196	21.0	28.0	26.0		443	-7.9	0.0	19	dbSNP_134	26	1,8539		0,1,4269	no	missense	IL28B	NM_172139.2	43	0,1,6465	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	148/197	39734513	1,12931	2196	4270	6466	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39734513C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.443G>A	19.37:g.39734513C>T	ENSP00000409000:p.Arg148Gln					IL28B_uc010xuu.2_Missense_Mutation_p.R148Q	p.R148Q	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		3	445	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		148					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.443G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	c	4.345	0.063564	0.08388	0.0	1.17E-4	ENSG00000197110	ENST00000413851	T	0.31247	1.5	3.95	-7.91	0.01165	.	1.913640	0.02255	N	0.066998	T	0.13586	0.0329	L	0.28504	0.86	0.09310	N	1	P	0.35226	0.491	B	0.19391	0.025	T	0.14587	-1.0467	10	0.20519	T	0.43	-0.2085	2.5438	0.04732	0.1054:0.2174:0.2089:0.4682	.	148	Q8IZI9	IL28B_HUMAN	Q	148	ENSP00000409000:R148Q	ENSP00000409000:R148Q	R	-	2	0	IL28B	44426353	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-2.602000	0.00891	-2.265000	0.00688	-2.559000	0.00174	CGG		0.692	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		8	58	0	0	0	1	0	8	58				
SVIL	6840	broad.mit.edu	37	10	29754571	29754571	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr10:29754571C>A	ENST00000355867.4	-	34	6838	c.6086G>T	c.(6085-6087)aGt>aTt	p.S2029I	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S943I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.S2029I|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1603I|PTCHD3P1_ENST00000413405.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2029					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCATGGAACTGACCACAGA	0.587																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6085-6087)aGt>aTt		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							43.0	46.0	45.0					10																	29754571		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29754571C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6086G>T	10.37:g.29754571C>A	ENSP00000348128:p.Ser2029Ile					LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.S943I|SVIL_uc001iuu.1_Missense_Mutation_p.S1603I	p.S2029I	NM_021738	NP_068506	O95425	SVIL_HUMAN			33	6839	-		Breast(68;0.103)	2029					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6086G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895895	0.52121	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.43688	1.88;1.88;1.88;0.94	4.72	3.69	0.42338	.	0.039425	0.85682	D	0.000000	T	0.40546	0.1121	L	0.58810	1.83	0.80722	D	1	B;B;B	0.33345	0.02;0.409;0.128	B;B;B	0.40982	0.169;0.345;0.083	T	0.35724	-0.9777	10	0.56958	D	0.05	-12.9702	4.5827	0.12266	0.0:0.2005:0.0:0.7995	.	943;1603;2029	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	I	1603;2029;2029;943	ENSP00000364549:S1603I;ENSP00000364547:S2029I;ENSP00000348128:S2029I;ENSP00000445472:S943I	ENSP00000348128:S2029I	S	-	2	0	SVIL	29794577	1.000000	0.71417	0.712000	0.30502	0.475000	0.33008	2.599000	0.46231	1.011000	0.39340	0.650000	0.86243	AGT		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	61	0	0	0	1	0	20	61				
EHMT2	10919	broad.mit.edu	37	6	31847931	31847931	+	Missense_Mutation	SNP	C	C	A	rs547088463		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31847931C>A	ENST00000375537.4	-	28	3569	c.3563G>T	c.(3562-3564)cGt>cTt	p.R1188L	SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1154L|SLC44A4_ENST00000544672.1_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.R1245L|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1211L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1188					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGGGCCAGACGGCTCTGCTC	0.612																																						uc011don.1																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3631-3633)cGt>cTt		Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a-SPI, mRNA.							55.0	50.0	52.0					6																	31847931		1510	2709	4219	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847931C>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3563G>T	6.37:g.31847931C>A	ENSP00000364687:p.Arg1188Leu					EHMT2_uc003nxx.1_Missense_Mutation_p.R386L|EHMT2_uc003nxy.1_Missense_Mutation_p.R986L|EHMT2_uc003nxz.1_Missense_Mutation_p.R1188L|EHMT2_uc003nya.1_Missense_Mutation_p.R1154L|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	p.R1211L	NM_025256	NP_079532	Q96KQ7	EHMT2_HUMAN			25	3636	-			1188					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3632G>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998547	0.93227	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70631	-0.5;-0.42;-0.36;-0.49	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	L	0.44542	1.39	0.80722	D	1	P;P;D;D	0.58620	0.913;0.948;0.983;0.97	B;P;B;P	0.44447	0.166;0.449;0.314;0.45	T	0.64571	-0.6376	10	0.52906	T	0.07	.	16.5388	0.84380	0.0:1.0:0.0:0.0	.	1211;1154;1188;1009	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1245;1211;1154;1188;1009	ENSP00000379078:R1245L;ENSP00000364678:R1211L;ENSP00000364680:R1154L;ENSP00000364687:R1188L	ENSP00000364678:R1211L	R	-	2	0	EHMT2	31955910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.623000	0.54224	2.278000	0.76064	0.561000	0.74099	CGT		0.612	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		3	45	0	0	0	1	0	3	45				
KANK3	256949	broad.mit.edu	37	19	8389408	8389408	+	Silent	SNP	G	G	A	rs529108334		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:8389408G>A	ENST00000593649.1	-	10	2372	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	KANK3_ENST00000330915.3_Silent_p.I769I			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	769										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CCTCCAGGGCGATGGCCAGGG	0.637																																						uc010dwa.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2305-2307)atC>atT		Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.							27.0	26.0	27.0					19																	8389408		2203	4300	6503	SO:0001819	synonymous_variant	256949							g.chr19:8389408G>A	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2307C>T	19.37:g.8389408G>A							p.I769I	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN			9	2373	-			769					Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2307C>T																																																																																					0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	41	0	0	0	1	0	3	41				
MTERF3	51001	broad.mit.edu	37	8	97251725	97251725	+	Silent	SNP	C	C	T	rs377656018	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr8:97251725C>T	ENST00000287025.3	-	8	1346	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	MTERFD1_ENST00000524341.1_Silent_p.T172T|MTERFD1_ENST00000522822.1_Silent_p.T295T|KB-1043D8.6_ENST00000520575.1_RNA|MTERFD1_ENST00000523821.1_3'UTR	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		416					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAATCTAAAGCGTTTTTAAGA	0.284													C|||	3	0.000599042	0.0008	0.0	5008	,	,		16285	0.0		0.0	False		,,,				2504	0.002					uc003yhs.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1246-1248)acG>acA		Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.		C		2,4398	4.2+/-10.8	0,2,2198	34.0	36.0	35.0		1248	-1.4	1.0	8		35	0,8590		0,0,4295	no	coding-synonymous	MTERFD1	NM_015942.3		0,2,6493	TT,TC,CC		0.0,0.0455,0.0154		416/418	97251725	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97251725C>T																												ENST00000287025.3:c.1248G>A	8.37:g.97251725C>T						MTERFD1_uc003yhr.1_Silent_p.T295T|MTERFD1_uc010mbd.1_3'UTR	p.T416T	NM_015942	NP_057026	Q96E29	MTER1_HUMAN			7	1326	-	Breast(36;5.16e-05)		416					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.1248G>A	CCDS6270.1																																																																																				0.284	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			12	19	0	0	0	1	0	12	19				
TFPI2	7980	broad.mit.edu	37	7	93519448	93519448	+	Splice_Site	SNP	C	C	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr7:93519448C>A	ENST00000222543.5	-	2	584		c.e2+1		GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Splice_Site	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2						blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGGGCACTTACTTTCTATCCT	0.602																																						uc003umy.1																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e2+1		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							26.0	28.0	27.0					7																	93519448		2202	4299	6501	SO:0001630	splice_region_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519448C>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.271+1G>T	7.37:g.93519448C>A						GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Splice_Site_p.K91_splice|TFPI2_uc003una.1_Splice_Site_p.K80_splice	p.K91_splice	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	346	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		91					Q66ME8|Q8NAK6|Q9UC86	Splice_Site	SNP	ENST00000222543.5	37	c.271_splice	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646382	0.29246	.	.	ENSG00000105825	ENST00000222543;ENST00000545378;ENST00000451238	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4832	0.90819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFPI2	93357384	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	4.393000	0.59665	2.538000	0.85594	0.313000	0.20887	.		0.602	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	Intron	23	32	0	0	0	1	0	23	32				
MDN1	23195	broad.mit.edu	37	6	90365677	90365677	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:90365677C>T	ENST00000369393.3	-	92	15411	c.15296G>A	c.(15295-15297)aGg>aAg	p.R5099K	MDN1_ENST00000428876.1_Missense_Mutation_p.R5099K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5099					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCAGGTTTCCTCTTAAAACT	0.468																																						uc003pnn.1																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(15295-15297)aGg>aAg		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							66.0	53.0	57.0					6																	90365677		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90365677C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15296G>A	6.37:g.90365677C>T	ENSP00000358400:p.Arg5099Lys						p.R5099K	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	91	15412	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5099					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15296G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733743	0.69189	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03181	4.02;4.02	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	M	0.65498	2.005	0.51767	D	0.999936	D	0.69078	0.997	D	0.72625	0.978	T	0.41998	-0.9477	10	0.12430	T	0.62	.	19.5538	0.95333	0.0:1.0:0.0:0.0	.	5099	Q9NU22	MDN1_HUMAN	K	5099	ENSP00000358400:R5099K;ENSP00000413970:R5099K	ENSP00000358400:R5099K	R	-	2	0	MDN1	90422398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.206000	0.77891	2.688000	0.91661	0.655000	0.94253	AGG		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	66	0	0	0	1	0	8	66				
GSTM5	2949	broad.mit.edu	37	1	110257888	110257888	+	Intron	SNP	T	T	C			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr1:110257888T>C	ENST00000256593.3	+	7	625				GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000369813.1_Missense_Mutation_p.F157S	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TCCTTTCTCTTTGATGCCCCT	0.483																																						uc010ovu.1																			0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21						c.(469-471)tTt>tCt		Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	Glutathione(DB00143)						110.0	103.0	105.0					1																	110257888		2203	4300	6503	SO:0001627	intron_variant	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110257888T>C	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.567+26T>C	1.37:g.110257888T>C						GSTM5_uc001dyn.3_Intron	p.F157S			P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	4	1389	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	0			GST C-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.470T>C	CCDS811.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878146	0.33162	.	.	ENSG00000134201	ENST00000369813	T	0.06933	3.24	4.51	3.35	0.38373	.	.	.	.	.	T	0.01558	0.0050	.	.	.	0.09310	N	0.999998	B	0.24317	0.101	B	0.16722	0.016	T	0.47623	-0.9103	7	.	.	.	.	7.9384	0.29944	0.0:0.0:0.2092:0.7908	.	157	Q5T8Q9	.	S	157	ENSP00000358828:F157S	.	F	+	2	0	GSTM5	110059411	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.050000	0.14120	0.722000	0.32252	0.487000	0.48397	TTT		0.483	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		12	103	0	0	0	1	0	12	103				
PAPSS1	9061	broad.mit.edu	37	4	108566109	108566109	+	Missense_Mutation	SNP	T	T	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:108566109T>A	ENST00000265174.4	-	10	1627	c.1355A>T	c.(1354-1356)cAc>cTc	p.H452L		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	452					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		ACCCAGAGGGTGGAGGAGGAG	0.542																																						uc003hyk.3																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1354-1356)cAc>cTc		Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.							102.0	98.0	99.0					4																	108566109		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity	g.chr4:108566109T>A	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1355A>T	4.37:g.108566109T>A	ENSP00000265174:p.His452Leu						p.H452L	NM_005443	NP_005434	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	9	1439	-		Hepatocellular(203;0.217)	452					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1355A>T	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710232	0.89018	.	.	ENSG00000138801	ENST00000265174	T	0.33865	1.39	5.22	5.22	0.72569	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	H	0.98818	4.34	0.80722	D	1	D	0.61080	0.989	D	0.68192	0.956	D	0.85959	0.1469	10	0.87932	D	0	-26.6538	15.1269	0.72489	0.0:0.0:0.0:1.0	.	452	O43252	PAPS1_HUMAN	L	452	ENSP00000265174:H452L	ENSP00000265174:H452L	H	-	2	0	PAPSS1	108785558	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.522000	0.81844	1.972000	0.57404	0.377000	0.23210	CAC		0.542	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			12	109	0	0	0	1	0	12	109				
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Silent	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:189068316C>T	ENST00000332517.3	+	6	1337	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			3	Substitution - Missense(3)	p.H399Q(6)	lung(3)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1195-1197)caC>caT		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							153.0	137.0	142.0					4																	189068316		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068316C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1197C>T	4.37:g.189068316C>T						TRIML1_uc003izn.1_Silent_p.H123H	p.H399H	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	1312	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	399			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1197C>T	CCDS3851.1																																																																																				0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		81	109	0	0	0	1	0	81	109				
PRRC2A	7916	broad.mit.edu	37	6	31595798	31595798	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31595798C>G	ENST00000376033.2	+	12	1781	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S516C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	516	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTGCCCCTTCTACCCCAGCT	0.602																																						uc003nvb.4																			0		p.A514_S516delAPS(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1546-1548)tCt>tGt		Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.							131.0	127.0	128.0					6																	31595798		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595798C>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1547C>G	6.37:g.31595798C>G	ENSP00000365201:p.Ser516Cys					PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.S516C	p.S516C	NM_080686	NP_542417	P48634	PRC2A_HUMAN			11	1796	+			516			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1547C>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287336	0.23478	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.08370	3.1;3.1	4.38	4.38	0.52667	.	0.301266	0.24063	N	0.041882	T	0.02047	0.0064	N	0.08118	0	0.29312	N	0.867938	B	0.25955	0.138	B	0.24541	0.054	T	0.40040	-0.9584	10	0.87932	D	0	0.0336	14.3081	0.66397	0.0:1.0:0.0:0.0	.	516	P48634	PRC2A_HUMAN	C	516;505;516;516	ENSP00000365175:S516C;ENSP00000365201:S516C	ENSP00000365175:S516C	S	+	2	0	PRRC2A	31703777	0.584000	0.26766	0.996000	0.52242	0.913000	0.54294	2.706000	0.47135	2.453000	0.82957	0.561000	0.74099	TCT		0.602	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		82	186	0	0	0	1	0	82	186				
PCDHGA3	56112	broad.mit.edu	37	5	140724389	140724389	+	Silent	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr5:140724389G>A	ENST00000253812.6	+	1	789	c.789G>A	c.(787-789)acG>acA	p.T263T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCTCACGGTGAATGCCA	0.478																																						uc003ljm.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(787-789)acG>acA		Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.							58.0	60.0	60.0					5																	140724389		2088	4243	6331	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724389G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.789G>A	5.37:g.140724389G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T263T	p.T263T	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	789	+			263			Cadherin 3.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.789G>A	CCDS47290.1																																																																																				0.478	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		35	52	0	0	0	1	0	35	52				
SLC29A1	2030	broad.mit.edu	37	6	44197517	44197517	+	Silent	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:44197517C>T	ENST00000393841.1	+	5	794	c.303C>T	c.(301-303)ttC>ttT	p.F101F	SLC29A1_ENST00000371731.1_Silent_p.F101F|SLC29A1_ENST00000371708.1_Silent_p.F101F|SLC29A1_ENST00000313248.7_Silent_p.F180F|SLC29A1_ENST00000393844.1_Silent_p.F101F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371724.1_Silent_p.F101F|SLC29A1_ENST00000371713.1_Silent_p.F101F|SLC29A1_ENST00000371755.3_Silent_p.F101F|SLC29A1_ENST00000371740.5_Silent_p.F101F|SLC29A1_ENST00000427851.2_Silent_p.F101F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	101					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TCAACTCCTTCCTGCATCAGA	0.592																																						uc003oww.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(538-540)ttC>ttT		Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	Troglitazone(DB00197)						122.0	112.0	116.0					6																	44197517		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197517C>T	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.303C>T	6.37:g.44197517C>T						SLC29A1_uc021yzw.1_Silent_p.F101F|SLC29A1_uc011dvp.1_Silent_p.F120F|SLC29A1_uc003owu.1_Silent_p.F101F|SLC29A1_uc003owv.1_Silent_p.F101F|SLC29A1_uc011dvq.1_Silent_p.F143F|SLC29A1_uc003owx.1_Silent_p.F101F|SLC29A1_uc003owy.1_Silent_p.F101F|SLC29A1_uc003owz.1_Silent_p.F101F|SLC29A1_uc021yzx.1_Silent_p.F101F	p.F180F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	732	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		101					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.540C>T	CCDS4908.1																																																																																				0.592	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			4	90	0	0	0	1	0	4	90				
C19orf25	148223	broad.mit.edu	37	19	1482365	1482366	+	5'Flank	DEL	CT	CT	-			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:1482365_1482366delCT	ENST00000436106.2	-	0	0				PCSK4_ENST00000300954.5_Frame_Shift_Del_p.E602fs|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACAGCCCCTCTGTGTCCCG	0.728																																						uc002ltb.1																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1804-1806)gagfs		Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.																																				SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482365_1482366delCT	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482367_1482368delCT	Exception_encountered					PCSK4_uc002lsz.2_Frame_Shift_Del_p.E89fs|PCSK4_uc002lta.2_Frame_Shift_Del_p.R372fs	p.E602fs	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1867_1868	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	602					B3KQN6|Q8N9R7|Q8WV94	Frame_Shift_Del	DEL	ENST00000436106.2	37	c.1805_1806delAG	CCDS45898.1																																																																																				0.728	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		3	3						3	3	---	---	---	---
