#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
TSIX	9383	genome.wustl.edu	37	X	73047593	73047593	+	lincRNA	SNP	C	C	T			TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chrX:73047593C>T	ENST00000604411.1	+	0	35554				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TGAAATAAAGCGTGAAAGAAG	0.398																																							0											0													30.0	26.0	27.0					X																	73047593		873	1983	2856			0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047593C>T				RNA	SNP	0	NULL	ENST00000604411.1	37	NULL		X																																																																																			0	0		0.398	TSIX-001	KNOWN	basic	lincRNA	XIST	lincRNA	OTTHUMT00000469120.1	37	112	0	0.00	0	0	C	NR_003255	0	0		73047593	-1	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	36	68	10	10.53	4	8	SNP	0.002	T
WDR48	57599	genome.wustl.edu	37	3	39126157	39126157	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr3:39126157G>A	ENST00000302313.5	+	13	1331	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	WDR48_ENST00000396258.3_Missense_Mutation_p.E353K|WDR48_ENST00000544962.1_Missense_Mutation_p.E160K|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	435					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACTTTGGATGAAAGTGATTG	0.358																																							0											0													89.0	88.0	88.0					3																	39126157		2203	4300	6503	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1303G>A	3.37:g.39126157G>A	ENSP00000307491:p.Glu435Lys		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E435K	ENST00000302313.5	37	c.1303	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.696380	0.96802	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.90069	0.98;-2.61;0.71	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95043	0.8395	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.974;0.995;0.999;1.0	D;D;D;D	0.73708	0.953;0.928;0.968;0.981	D	0.94354	0.7582	10	0.52906	T	0.07	-13.3985	20.2985	0.98592	0.0:0.0:1.0:0.0	.	160;353;426;435	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	K	435;160;353	ENSP00000307491:E435K;ENSP00000445187:E160K;ENSP00000379557:E353K	ENSP00000307491:E435K	E	+	1	0	WDR48	39101161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.823000	0.99369	2.793000	0.96121	0.655000	0.94253	GAA	0	pfam_DUF3337		0.358	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	protein_coding	OTTHUMT00000342529.1	117	297	0	0.00	0	0	G	NM_020839	0	0		39126157	1	no_errors	ENST00000302313	ensembl	human	known	74_37	missense	46	157	9.8	5.39	5	9	SNP	1	A
HIST1H2AC	8334	genome.wustl.edu	37	6	26124472	26124472	+	Silent	SNP	T	T	C			TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr6:26124472T>C	ENST00000602637.1	+	1	42	c.12T>C	c.(10-12)cgT>cgC	p.R4R	HIST1H2AC_ENST00000377791.2_Silent_p.R4R|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	4						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TGTCTGGACGTGGTAAGCAAG	0.512																																							0											0													49.0	50.0	50.0					6																	26124472		2203	4300	6503	SO:0001819	synonymous_variant	0			Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.12T>C	6.37:g.26124472T>C			B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R4	ENST00000602637.1	37	c.12	CCDS4585.1	6																																																																																			0	superfamily_Histone-fold,smart_Histone_H2A		0.512	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AC	protein_coding	OTTHUMT00000468023.1	65	248	0	0.00	0	0	T	NM_003512	0	0		26124472	1	no_errors	ENST00000314088	ensembl	human	known	74_37	silent	65	142	8.45	4.05	6	6	SNP	0.001	C
CIRBP	1153	genome.wustl.edu	37	19	1270978	1270978	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr19:1270978G>A	ENST00000588030.1	+	2	306	c.46G>A	c.(46-48)Gac>Aac	p.D16N	CIRBP_ENST00000587323.1_Missense_Mutation_p.D16N|CIRBP_ENST00000589686.1_Missense_Mutation_p.D16N|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000591935.1_Missense_Mutation_p.D16N|CIRBP_ENST00000589660.1_Missense_Mutation_p.D16N|CIRBP_ENST00000588230.1_Missense_Mutation_p.D16N|CIRBP_ENST00000588090.1_Missense_Mutation_p.D16N|CIRBP_ENST00000587896.1_Missense_Mutation_p.D16N|CIRBP_ENST00000589235.1_Missense_Mutation_p.D16N|CIRBP_ENST00000413636.2_Missense_Mutation_p.D16N|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000444172.2_5'UTR|CIRBP_ENST00000586472.1_Missense_Mutation_p.D16N|CIRBP_ENST00000320936.5_Missense_Mutation_p.D16N|CIRBP_ENST00000586773.1_Missense_Mutation_p.D16N|CIRBP_ENST00000589710.1_Missense_Mutation_p.D16N|CIRBP_ENST00000585630.1_Missense_Mutation_p.D16N			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	16	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		gctgagttttgacaccaatga	0.577																																							0											0													183.0	189.0	187.0					19																	1270978		2203	4300	6503	SO:0001583	missense	0			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.46G>A	19.37:g.1270978G>A	ENSP00000468788:p.Asp16Asn		B3KT17|B4E2X2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.D16N	ENST00000588030.1	37	c.46	CCDS12059.1	19	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869215	0.32977	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	D;D	0.85861	-2.04;-2.04	4.6	3.57	0.40892	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.121135	0.53938	U	0.000044	T	0.77745	0.4176	N	0.25647	0.755	0.80722	D	1	B;B;B	0.34103	0.127;0.392;0.437	B;B;B	0.40982	0.19;0.345;0.241	T	0.69910	-0.5017	10	0.19147	T	0.46	-1.2837	10.9496	0.47321	0.0924:0.0:0.9076:0.0	.	16;16;16	B4E2X2;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	N	16	ENSP00000322887:D16N;ENSP00000412831:D16N	ENSP00000322887:D16N	D	+	1	0	CIRBP	1221978	1.000000	0.71417	0.205000	0.23548	0.057000	0.15508	9.664000	0.98607	0.929000	0.37192	0.563000	0.77884	GAC	0	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.577	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	protein_coding	OTTHUMT00000449969.1	20	213	0	0.00	0	0	G	NM_001280	0	0		1270978	1	no_errors	ENST00000585914	ensembl	human	known	74_37	missense	16	153	11.11	6.13	2	10	SNP	1	A
CSPG4P5	114817	genome.wustl.edu	37	15	84959378	84959378	+	RNA	SNP	C	C	T	rs201410532	byFrequency	TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr15:84959378C>T	ENST00000558801.1	-	0	5351									DNM1 pseudogene 51																		CCCTCACAGGCAGAGTCCAGG	0.622																																							0											0																																												0					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84959378C>T				RNA	SNP	0	NULL	ENST00000558801.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	.	1.604	-0.525771	0.04141	.	.	ENSG00000235370	ENST00000456932	.	.	.	.	.	.	.	0.594802	0.16639	N	0.205730	T	0.28433	0.0703	.	.	.	.	.	.	.	.	.	.	.	.	T	0.25152	-1.0140	4	0.26408	T	0.33	.	3.6294	0.08126	2.0E-4:0.5041:0.4955:2.0E-4	.	.	.	.	T	94	.	ENSP00000389645:A94T	A	-	1	0	CSPG4P5	82750382	0.000000	0.05858	0.255000	0.24374	0.257000	0.26127	-1.293000	0.02770	0.107000	0.17824	0.109000	0.15622	GCC	0	0		0.622	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	pseudogene	OTTHUMT00000471721.1	20	0	0	0.00	0	0	C		rs201410532	C->T		84959378	-1	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	21	0	22.22	0.00	6	0	SNP	0.65	T
HOXA11	3207	genome.wustl.edu	37	7	27224167	27224169	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr7:27224167_27224169delGCC	ENST00000006015.3	-	1	666_668	c.595_597delGGC	c.(595-597)ggcdel	p.G199del	HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	199	Poly-Gly.				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						tctcccggcagccgccgccgccg	0.768			T	NUP98	CML																																		0		Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0										7,485		3,1,242						2.0	1.0			1	20,1804		4,12,896	no	coding	HOXA11	NM_005523.5		7,13,1138	A1A1,A1R,RR		1.0965,1.4228,1.1658				27,2289				SO:0001651	inframe_deletion	0				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.595_597delGGC	7.37:g.27224176_27224178delGCC	ENSP00000006015:p.Gly199del		A4D190	In_Frame_Del	DEL	pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G199in_frame_del	ENST00000006015.3	37	c.597_595	CCDS5411.1	7																																																																																			0	NULL		0.768	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA11	protein_coding	OTTHUMT00000358754.1	10	15	0	0.00	0	0	GCC		0	0		27224169	-1	no_errors	ENST00000006015	ensembl	human	known	74_37	in_frame_del	11	9	15.38	0.00	2	0	DEL	0.999:1.000:1.000	0
