#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_BAM_File	i_CAF	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
UPRT	139596	genome.wustl.edu	37	X	74494112	74494112	+	Missense_Mutation	SNP	C	C	T			TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chrX:74494112C>T	ENST00000373383.4	+	1	190	c.23C>T	c.(22-24)cCg>cTg	p.P8L	UPRT_ENST00000373379.1_Missense_Mutation_p.P8L|UPRT_ENST00000530743.1_5'Flank|UPRT_ENST00000531704.1_3'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	8					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						TTACAGTGTCCGGACTCCATG	0.582																																							0											0													42.0	37.0	39.0					X																	74494112		2203	4300	6503	SO:0001583	missense	0			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.23C>T	X.37:g.74494112C>T	ENSP00000362481:p.Pro8Leu		Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	pfam_PRibTrfase_dom	p.P8L	ENST00000373383.4	37	c.23	CCDS14429.1	X	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401600	0.11696	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	.	.	.	4.97	-0.304	0.12788	.	1.118190	0.06799	N	0.788338	T	0.15998	0.0385	N	0.14661	0.345	0.09310	N	0.999994	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.002	T	0.23797	-1.0178	9	0.02654	T	1	0.0014	3.8845	0.09093	0.165:0.4106:0.0:0.4244	.	8;8;8	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	L	8	.	ENSP00000362471:P8L	P	+	2	0	UPRT	74410837	0.001000	0.12720	0.003000	0.11579	0.034000	0.12701	-0.574000	0.05868	-0.134000	0.11516	-0.380000	0.06706	CCG	0	NULL		0.582	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPRT	protein_coding	OTTHUMT00000057278.1	69	188	0	0.00	0	0	C	NM_145052	0	0		74494112	1	no_errors	ENST00000373383	ensembl	human	known	74_37	missense	86	181	8.51	4.19	8	8	SNP	0.002	T
CYB5RL	606495	genome.wustl.edu	37	1	54649868	54649868	+	Missense_Mutation	SNP	C	C	T			TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chr1:54649868C>T	ENST00000534324.1	-	4	505	c.506G>A	c.(505-507)gGa>gAa	p.G169E	MRPL37_ENST00000487096.1_3'UTR|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G169E|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G21E|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G169E|RP11-446E24.4_ENST00000311841.7_3'UTR|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G169E|CYB5RL_ENST00000419823.2_Missense_Mutation_p.G169E			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	169	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.						cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCCGAAAGGTCCTCGCCAGAA	0.512																																							0											0													67.0	68.0	67.0					1																	54649868		2004	4168	6172	SO:0001583	missense	0				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.506G>A	1.37:g.54649868C>T	ENSP00000434343:p.Gly169Glu		B7ZBS4|Q8NF25	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	p.G169E	ENST00000534324.1	37	c.506	CCDS44151.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152642	0.78001	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208;ENST00000493530	D;D;D;D;D;D;D	0.97232	-3.15;-4.3;-3.15;-3.15;-3.15;-3.15;-2.54	4.71	4.71	0.59529	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.000000	0.31450	U	0.007637	D	0.98689	0.9560	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99560	1.0968	10	0.72032	D	0.01	-7.1576	16.0123	0.80411	0.0:1.0:0.0:0.0	.	169	Q6IPT4	NB5R5_HUMAN	E	169;21;169;169;169;169;83	ENSP00000409075:G169E;ENSP00000383825:G21E;ENSP00000434343:G169E;ENSP00000287899:G169E;ENSP00000438151:G169E;ENSP00000443797:G169E;ENSP00000434606:G83E	ENSP00000287899:G169E	G	-	2	0	CYB5RL	54422456	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.062000	0.64326	2.425000	0.82216	0.555000	0.69702	GGA	0	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase		0.512	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	protein_coding	OTTHUMT00000388318.1	59	250	0	0.00	0	0	C	NM_001031672	0	0		54649868	-1	no_errors	ENST00000419823	ensembl	human	known	74_37	missense	60	202	7.69	4.72	5	10	SNP	1	T
MUC16	94025	genome.wustl.edu	37	19	9091798	9091798	+	Missense_Mutation	SNP	C	C	T	rs374211611		TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chr19:9091798C>T	ENST00000397910.4	-	1	220	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGGAAGGCCTGAGGGTTT	0.557																																							0											0								C	ASP/GLY	0,3952		0,0,1976	58.0	55.0	56.0		17	0.3	0.0	19		56	1,8303		0,1,4151	no	missense	MUC16	NM_024690.2	94	0,1,6127	TT,TC,CC		0.012,0.0,0.0082	benign	6/14508	9091798	1,12255	1976	4152	6128	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17G>A	19.37:g.9091798C>T	ENSP00000381008:p.Gly6Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.G6D	ENST00000397910.4	37	c.17	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	2.643	-0.283785	0.05642	0.0	1.2E-4	ENSG00000181143	ENST00000397910	T	0.03553	3.89	1.35	0.283	0.15696	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	.	.	.	B	0.34255	0.445	B	0.27170	0.077	T	0.43130	-0.9410	8	0.87932	D	0	.	3.5745	0.07929	0.0:0.7373:0.0:0.2627	.	6	B5ME49	.	D	6	ENSP00000381008:G6D	ENSP00000381008:G6D	G	-	2	0	MUC16	8952798	0.060000	0.20803	0.006000	0.13384	0.091000	0.18340	0.238000	0.18004	0.151000	0.19162	0.313000	0.20887	GGC	0	NULL		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	44	159	0	0.00	0	0	C	NM_024690	rs374211611	C->T		9091798	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	48	144	11.11	4.61	6	7	SNP	0.006	T
TMTC1	83857	genome.wustl.edu	37	12	29936577	29936577	+	Silent	SNP	T	T	C			TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chr12:29936577T>C	ENST00000539277.1	-	1	166	c.108A>G	c.(106-108)gcA>gcG	p.A36A	TMTC1_ENST00000552618.1_Silent_p.A36A|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000551659.1_Silent_p.A36A|TMTC1_ENST00000381224.2_Intron	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	36						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACAGGCAGCTTGCCCCGGCCA	0.781																																							0											0																																										SO:0001819	synonymous_variant	0				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.108A>G	12.37:g.29936577T>C			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A36	ENST00000539277.1	37	c.108	CCDS53772.1	12																																																																																			0	NULL		0.781	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	protein_coding	OTTHUMT00000403509.1	22	2	0	0.00	0	0	T	NM_031920	0	0		29936577	-1	no_errors	ENST00000539277	ensembl	human	putative	74_37	silent	25	3	13.79	0.00	4	0	SNP	0.995	C
KIR2DL3	3804	genome.wustl.edu	37	19	55255454	55255454	+	Silent	SNP	A	A	G	rs201431907	byFrequency	TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chr19:55255454A>G	ENST00000342376.3	+	4	613	c.582A>G	c.(580-582)ggA>ggG	p.G194G	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.G194G|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	194	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCCACGGAGGAACCTACAGAT	0.577																																							0											0													4.0	5.0	5.0					19																	55255454		803	1807	2610	SO:0001819	synonymous_variant	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.582A>G	19.37:g.55255454A>G			O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.G194	ENST00000342376.3	37	c.582	CCDS33107.1	19																																																																																			0	pfam_Immunoglobulin,smart_Ig_sub		0.577	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	protein_coding	OTTHUMT00000141150.1	14	0	0	0.00	0	0	A		rs201431907	A->G		55255454	1	no_errors	ENST00000434419	ensembl	human	known	74_37	silent	13	0	38.1	0.00	8	0	SNP	0	G
