#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
CTNNA1	1495	genome.wustl.edu	37	5	138163321	138163321	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8DE-01A-11D-A423-09	TCGA-X7-A8DE-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5f544715-5a3a-4997-9151-5337c216d8ab	b7884a46-d16c-4a00-94f0-fa869d26c7be	g.chr5:138163321C>T	ENST00000302763.7	+	7	1066	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R326C|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R223C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	326	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCCTGCACGCGTGATGACCG	0.587																																							0											0													114.0	99.0	104.0					5																	138163321		2203	4300	6503	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.976C>T	5.37:g.138163321C>T	ENSP00000304669:p.Arg326Cys		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R326C	ENST00000302763.7	37	c.976	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475950	0.84640	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.42131	0.98;0.98;0.98	5.89	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.71533	-0.4564	10	0.66056	D	0.02	-7.1806	14.621	0.68584	0.0:0.9295:0.0:0.0705	.	326;203;326	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	C	223;326;326;311;326	ENSP00000347190:R223C;ENSP00000304669:R326C;ENSP00000427821:R326C	ENSP00000304669:R326C	R	+	1	0	CTNNA1	138191220	1.000000	0.71417	0.915000	0.36163	0.809000	0.45718	5.986000	0.70563	1.497000	0.48584	0.563000	0.77884	CGT	0	pfam_Vinculin/catenin,prints_Alpha_catenin		0.587	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	protein_coding	OTTHUMT00000373868.1	37	204	0	0.00	0	0	C	NM_001903	0	0		138163321	1	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	15	101	16.67	11.30	3	13	SNP	0.997	T
LINC00265	349114	genome.wustl.edu	37	7	39832528	39832528	+	lincRNA	SNP	A	A	G			TCGA-X7-A8DE-01A-11D-A423-09	TCGA-X7-A8DE-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f544715-5a3a-4997-9151-5337c216d8ab	b7884a46-d16c-4a00-94f0-fa869d26c7be	g.chr7:39832528A>G	ENST00000340510.4	+	0	2886					NR_026999.1				long intergenic non-protein coding RNA 265																		CCTCCCAGCAAGTAAGCAAGC	0.657																																							0											0																																												0					7p14.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000188185	ENSG00000188185		"""Long non-coding RNAs"""	28019	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 265-1"""		"""non-protein coding RNA 265"""	NCRNA00265		12477932	Standard	NR_026999		Approved	NCRNA00265-1	uc003thf.3		OTTHUMG00000155273		7.37:g.39832528A>G				RNA	SNP	0	NULL	ENST00000340510.4	37	NULL		7																																																																																			0	0		0.657	LINC00265-001	KNOWN	basic	lincRNA	LINC00265	lincRNA	OTTHUMT00000339278.1	44	19	2.22	0.00	1	0	A	NR_026999	0	0		39832528	1	no_errors	ENST00000340510	ensembl	human	known	74_37	rna	42	2	8.7	0.00	4	0	SNP	0.594	G
CBWD3	445571	genome.wustl.edu	37	9	70912543	70912543	+	Missense_Mutation	SNP	A	A	T			TCGA-X7-A8DE-01A-11D-A423-09	TCGA-X7-A8DE-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f544715-5a3a-4997-9151-5337c216d8ab	b7884a46-d16c-4a00-94f0-fa869d26c7be	g.chr9:70912543A>T	ENST00000360171.6	+	12	1415	c.864A>T	c.(862-864)gaA>gaT	p.E288D	CBWD3_ENST00000377342.5_Missense_Mutation_p.E268D	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	288	CobW C-terminal.						ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CAAAGGAAGAACATCTTAATA	0.274																																							0											0													2.0	2.0	2.0					9																	70912543		484	914	1398	SO:0001583	missense	0			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.864A>T	9.37:g.70912543A>T	ENSP00000353295:p.Glu288Asp		B4DNG9|Q6VB91	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C	p.E288D	ENST00000360171.6	37	c.864	CCDS35038.1	9	.	.	.	.	.	.	.	.	.	.	.	6.436	0.448519	0.12223	.	.	ENSG00000196873	ENST00000360171;ENST00000447896;ENST00000455820;ENST00000377344;ENST00000377342	T;T	0.18174	2.23;2.23	3.68	2.47	0.30058	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal (4);	0.205916	0.45606	D	0.000342	T	0.11623	0.0283	L	0.33710	1.025	0.25192	P	0.99012997	B;B	0.21225	0.053;0.005	B;B	0.21360	0.034;0.02	T	0.17258	-1.0375	9	0.25106	T	0.35	-1.7023	8.3665	0.32389	0.8976:0.0:0.1024:0.0	.	240;288	E7ETY5;Q5JTY5	.;CBWD3_HUMAN	D	288;269;240;252;268	ENSP00000353295:E288D;ENSP00000366559:E268D	ENSP00000353295:E288D	E	+	3	2	CBWD3	70102363	0.972000	0.33761	0.962000	0.40283	0.463000	0.32649	1.301000	0.33447	0.358000	0.24211	0.254000	0.18369	GAA	0	pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C		0.274	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD3	protein_coding	OTTHUMT00000052526.1	60	0	1.64	0.00	1	0	A	NM_201453	0	0		70912543	1	no_errors	ENST00000360171	ensembl	human	known	74_37	missense	64	0	11.11	0.00	8	0	SNP	0.9	T
GTF2I	2969	genome.wustl.edu	37	7	74149837	74149840	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-X7-A8DE-01A-11D-A423-09	TCGA-X7-A8DE-10A-01D-A426-09	AAGA	AAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f544715-5a3a-4997-9151-5337c216d8ab	b7884a46-d16c-4a00-94f0-fa869d26c7be	g.chr7:74149837_74149840delAAGA	ENST00000324896.4	+	17	1787_1790	c.1398_1401delAAGA	c.(1396-1401)ttaagafs	p.LR466fs	GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	466					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCACTAAATTAAGAAAGATGGTGG	0.275																																							0											0									,,,,	4,1578		1,2,788					,,,,	4.4	0.1			2	20,2954		3,14,1470	no	frameshift,frameshift,frameshift,frameshift,frameshift	GTF2I	NM_033001.2,NM_033000.2,NM_032999.2,NM_001518.3,NM_001163636.1	,,,,	4,16,2258	A1A1,A1R,RR		0.6725,0.2528,0.5268	,,,,	,,,,		24,4532				SO:0001589	frameshift_variant	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1398_1401delAAGA	7.37:g.74149841_74149844delAAGA	ENSP00000322542:p.Leu466fs		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Frame_Shift_Del	DEL	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.K468fs	ENST00000324896.4	37	c.1398_1401	CCDS5573.1	7																																																																																			0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.275	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	58	17	0	0.00	0	0	AAGA	NM_032999	0	0		74149840	1	no_errors	ENST00000324896	ensembl	human	known	74_37	frame_shift_del	72	7	10	0.00	8	0	DEL	0.824:0.950:0.992:0.989	0
MUC12	10071	genome.wustl.edu	37	7	100641727	100641728	+	In_Frame_Ins	INS	-	-	TGA			TCGA-X7-A8DE-01A-11D-A423-09	TCGA-X7-A8DE-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f544715-5a3a-4997-9151-5337c216d8ab	b7884a46-d16c-4a00-94f0-fa869d26c7be	g.chr7:100641727_100641728insTGA	ENST00000379442.3	+	5	8312_8313	c.8312_8313insTGA	c.(8311-8316)ggagaa>ggTGAagaa	p.2772_2773insE	MUC12_ENST00000536621.1_In_Frame_Ins_p.2629_2630insE			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2772	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TCAGGTCGTGGAGAATCTACAA	0.51																																							0											0																																										SO:0001652	inframe_insertion	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	Exception_encountered	7.37:g.100641727_100641728insTGA	ENSP00000368755:p.Glu2772_Glu2772dup		A6ND38|F5GWV9|Q9UKN0	In_Frame_Ins	INS	pfam_SEA_dom	p.2630in_frame_insE	ENST00000379442.3	37	c.7883_7884		7																																																																																			0	NULL		0.510	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	protein_coding	OTTHUMT00000347234.1	22	10	0	0.00	0	0	0	XM_379904	0	0		100641728	1	no_errors	ENST00000536621	ensembl	human	known	74_37	in_frame_ins	14	3	17.65	0.00	3	0	INS	0.002:0.002	TGA
