#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_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_Chromosome_hg18	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_End_position_hg18	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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	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_reference	i_refseq_mrna_id	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_type	i_ucsc_cons	i_variant
MYBPH	4608	genome.wustl.edu	37	1	203139507	203139507	+	Silent	SNP	C	C	T			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr1:203139507C>T	ENST00000255416.4	-	7	1062	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	335	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGAAGGAGTACGAGTTGCCGA	0.597																																					NSCLC(32;174 1025 14462 23899 42933)	dbGAP											0			1											171.0	163.0	166.0					1																	203139507		2203	4300	6503	201406130	SO:0001819	synonymous_variant	0			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1005G>A	1.37:g.203139507C>T		Somatic	168	0.58	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	201406130	78	37.30	47	Q16886|Q86YC5	Silent	SNP	HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726	p.S335	ENST00000255416.4	37	c.1005	CCDS30975.1	1																																																																																			-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.597	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	protein_coding	OTTHUMT00000100264.1	C	NM_004997		201406130	-1	no_errors	NM_004997.2	genbank	human	validated	54_36p	silent	SNP	0.810	T
ARF1	375	genome.wustl.edu	37	1	228285059	228285059	+	Silent	SNP	C	C	T	rs552986915		TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr1:228285059C>T	ENST00000541182.1	+	3	427	c.165C>T	c.(163-165)acC>acT	p.T55T	ARF1_ENST00000272102.5_Silent_p.T55T|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Silent_p.T55T	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	55					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				ACGTGGAAACCGTGGAGTACA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18595	0.001		0.0	False		,,,				2504	0.0					dbGAP											0			1											87.0	86.0	86.0					1																	228285059		2203	4300	6503	226351682	SO:0001819	synonymous_variant	0			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.165C>T	1.37:g.228285059C>T		Somatic	38	0.00	0		208	47.74	190	WXS	Illumina HiSeq	Phase_IV	226351682	57	33.71	30	P10947|P32889	Silent	SNP	HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T55	ENST00000541182.1	37	c.165	CCDS1565.1	1																																																																																			-	HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.612	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	protein_coding	OTTHUMT00000091650.1	C	NM_001024227		226351682	+1	no_errors	NM_001024226.1	genbank	human	reviewed	54_36p	silent	SNP	0.940	T
LRP1B	53353	genome.wustl.edu	37	2	141474288	141474288	+	Silent	SNP	C	C	T			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr2:141474288C>T	ENST00000389484.3	-	36	6827	c.5856G>A	c.(5854-5856)ttG>ttA	p.L1952L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1952					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACTCTTCCCAAGCCATTGG	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0			2											149.0	134.0	139.0					2																	141474288		2203	4300	6503	141190758	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5856G>A	2.37:g.141474288C>T		Somatic	219	1.35	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	141190758	300	36.08	175	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	HMMPfam_Ldl_recept_b,HMMSmart_LY,PatternScan_ASX_HYDROXYL,HMMPfam_NHL,HMMSmart_EGF_CA,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825	p.L1952	ENST00000389484.3	37	c.5856	CCDS2182.1	2																																																																																			-	HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141190758	-1	no_errors	NM_018557.2	genbank	human	validated	54_36p	silent	SNP	1.000	T
CSRNP1	64651	genome.wustl.edu	37	3	39186566	39186566	+	Silent	SNP	C	C	T	rs201759916		TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr3:39186566C>T	ENST00000273153.5	-	3	564	c.387G>A	c.(385-387)gcG>gcA	p.A129A	CSRNP1_ENST00000514182.1_Silent_p.A129A	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	129					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTTGCTCCTGCGCAAACTCAG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16804	0.001		0.0	False		,,,				2504	0.0					dbGAP											0			3						C		1,4405	2.1+/-5.4	0,1,2202	69.0	59.0	63.0		387	-10.3	0.0	3		63	0,8600		0,0,4300	no	coding-synonymous	CSRNP1	NM_033027.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		129/590	39186566	1,13005	2203	4300	6503	39161570	SO:0001819	synonymous_variant	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.387G>A	3.37:g.39186566C>T		Somatic	141	1.37	2		30	30.23	13	WXS	Illumina HiSeq	Phase_IV	39161570	60	35.11	33	Q69YY5	Silent	SNP	NULL	p.A129	ENST00000273153.5	37	c.387	CCDS2682.1	3																																																																																			-	NULL		0.612	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AXUD1	protein_coding	OTTHUMT00000254061.1	C	NM_033027		39161570	-1	no_errors	NM_033027.3	genbank	human	reviewed	54_36p	silent	SNP	0.036	T
ADAMTS16	170690	genome.wustl.edu	37	5	5239824	5239824	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr5:5239824G>A	ENST00000274181.7	+	16	2447	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	770	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G770V(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTCCTTCTGGAGCCCGGAGT	0.473																																						dbGAP											2	Substitution - Missense(2)	lung(2)	5											159.0	148.0	151.0					5																	5239824		1870	4112	5982	5292824	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2309G>A	5.37:g.5239824G>A	ENSP00000274181:p.Gly770Glu	Somatic	152	1.29	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	5292824	221	32.73	108	C6G490|Q8IVE2	Missense_Mutation	SNP	"HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases (""zincins"") catalytic domain"	p.G770E	ENST00000274181.7	37	c.2309	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979496	0.92982	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.73681	-0.77	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	D	0.90700	0.7082	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93120	0.6524	10	0.87932	D	0	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	770;770	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	E	770	ENSP00000274181:G770E	ENSP00000274181:G770E	G	+	2	0	ADAMTS16	5292824	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	8.985000	0.93487	2.615000	0.88500	0.655000	0.94253	GGA	-	HMMPfam_ADAM_spacer1		0.473	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5292824	+1	no_errors	NM_139056.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZBED9	114821	genome.wustl.edu	37	6	28543694	28543694	+	Missense_Mutation	SNP	G	G	A	rs373418471		TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr6:28543694G>A	ENST00000452236.2	-	3	1405	c.788C>T	c.(787-789)gCg>gTg	p.A263V	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTCCTTTTTCGCCTTAGCTTT	0.358																																						dbGAP											0			6											185.0	180.0	182.0					6																	28543694		2203	4300	6503	28651673	SO:0001583	missense	0																														ENST00000452236.2:c.788C>T	6.37:g.28543694G>A	ENSP00000395259:p.Ala263Val	Somatic	143	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	28651673	116	34.76	65		Missense_Mutation	SNP	HMMPfam_rve,HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_hATC,superfamily_RNaseH_fold	p.A263V	ENST00000452236.2	37	c.788	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878774	0.33162	.	.	ENSG00000232040	ENST00000452236	T	0.01438	4.89	2.46	1.56	0.23342	.	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.23010	N	0.99843	P	0.34837	0.472	B	0.27887	0.084	T	0.45571	-0.9252	9	0.42905	T	0.14	.	6.4235	0.21756	0.0:0.0:0.709:0.291	.	263	Q6R2W3	SCND3_HUMAN	V	263	ENSP00000395259:A263V	ENSP00000395259:A263V	A	-	2	0	SCAND3	28651673	0.853000	0.29707	0.998000	0.56505	0.989000	0.77384	0.813000	0.27225	0.582000	0.29556	0.585000	0.79938	GCG	-	NULL		0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	G			28651673	-1	no_errors	NM_052923.1	genbank	human	provisional	54_36p	missense	SNP	0.948	A
OR2AG1	144125	genome.wustl.edu	37	11	6806660	6806660	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr11:6806660C>A	ENST00000307401.4	+	1	413	c.392C>A	c.(391-393)aCa>aAa	p.T131K		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATCCTCTGACATACATGACC	0.532																																						dbGAP											0			11											108.0	97.0	101.0					11																	6806660		2201	4296	6497	6763236	SO:0001583	missense	0			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.392C>A	11.37:g.6806660C>A	ENSP00000307447:p.Thr131Lys	Somatic	188	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	6763236	160	33.20	82	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like	p.T131K	ENST00000307401.4	37	c.392	CCDS31414.1	11	.	.	.	.	.	.	.	.	.	.	c	5.147	0.212688	0.09757	.	.	ENSG00000170803	ENST00000307401	T	0.01388	4.95	3.89	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.367913	0.23209	N	0.050698	T	0.00998	0.0033	N	0.14661	0.345	0.21445	N	0.999683	B	0.02656	0.0	B	0.04013	0.001	T	0.48043	-0.9069	10	0.56958	D	0.05	.	4.8236	0.13405	0.5093:0.3885:0.1023:0.0	.	131	Q9H205	O2AG1_HUMAN	K	131	ENSP00000307447:T131K	ENSP00000307447:T131K	T	+	2	0	OR2AG1	6763236	0.000000	0.05858	0.999000	0.59377	0.157000	0.22087	-0.317000	0.08060	0.174000	0.19809	-0.339000	0.08088	ACA	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.532	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG1	protein_coding	OTTHUMT00000385980.1	C	NM_001004489		6763236	+1	no_errors	NM_001004489.1	genbank	human	provisional	54_36p	missense	SNP	0.977	A
ACSM2A	123876	genome.wustl.edu	37	16	20482538	20482538	+	Splice_Site	SNP	G	G	A			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr16:20482538G>A	ENST00000573854.1	+	5	854	c.740G>A	c.(739-741)gGt>gAt	p.G247D	ACSM2A_ENST00000219054.6_Splice_Site_p.G247D|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Splice_Site_p.G168D|ACSM2A_ENST00000536134.1_Splice_Site_p.G19D|ACSM2A_ENST00000396104.2_Splice_Site_p.G247D|ACSM2A_ENST00000575690.1_Splice_Site_p.G247D	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	247					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATGGATGCTGGGTAAGCTGAG	0.483																																						dbGAP											0			16											70.0	68.0	69.0					16																	20482538		2203	4300	6503	20390039	SO:0001630	splice_region_variant	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.740+1G>A	16.37:g.20482538G>A		Somatic	233	0.42	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	20390039	214	37.36	130	B3KTT9|O75202	Missense_Mutation	SNP	HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like	p.G247D	ENST00000573854.1	37	c.740	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794919	0.16327	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.47177	1.1;1.1;0.85;1.1	4.04	-2.62	0.06152	AMP-dependent synthetase/ligase (1);	2.480540	0.01759	N	0.030413	T	0.27832	0.0685	N	0.13299	0.325	0.80722	D	1	B;B	0.31837	0.219;0.342	B;B	0.31547	0.132;0.132	T	0.14062	-1.0486	10	0.59425	D	0.04	-0.6841	1.3649	0.02199	0.2685:0.1432:0.4417:0.1466	.	168;247	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	D	168;247;19;247	ENSP00000392169:G168D;ENSP00000219054:G247D;ENSP00000445082:G19D;ENSP00000379411:G247D	ENSP00000219054:G247D	G	+	2	0	ACSM2A	20390039	0.962000	0.33011	0.069000	0.20011	0.302000	0.27658	0.889000	0.28282	-0.403000	0.07622	0.298000	0.19748	GGT	-	HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like		0.483	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	protein_coding	OTTHUMT00000436764.1	G	NM_001010845	Missense_Mutation	20390039	+1	no_errors	NM_001010845.2	genbank	human	validated	54_36p	missense	SNP	0.999	A
SLC12A3	6559	genome.wustl.edu	37	16	56933508	56933508	+	Silent	SNP	C	C	T			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr16:56933508C>T	ENST00000563236.1	+	23	2725	c.2700C>T	c.(2698-2700)aaC>aaT	p.N900N	SLC12A3_ENST00000262502.5_Silent_p.N899N|SLC12A3_ENST00000438926.2_Silent_p.N909N|SLC12A3_ENST00000566786.1_Silent_p.N908N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	900					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGACATCAACCAGAACCCTC	0.537																																						dbGAP											0			16											133.0	121.0	125.0					16																	56933508		2198	4300	6498	55491009	SO:0001819	synonymous_variant	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2700C>T	16.37:g.56933508C>T		Somatic	316	0.93	3		2	0.00	0	WXS	Illumina HiSeq	Phase_IV	55491009	164	30.38	72	A8MSJ2|C9JNN9	Silent	SNP	HMMPfam_AA_permease,HMMPfam_AA_permease_N	p.N909	ENST00000563236.1	37	c.2727	CCDS58464.1	16																																																																																			-	NULL		0.537	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	C			55491009	+1	no_errors	NM_000339.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	21						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	43397525	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	Somatic	74	2.60	2		64	56.76	84	WXS	Illumina HiSeq	Phase_IV	43397525	45	27.42	17	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	G	NM_006758		43397525	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CRIPAK	285464	genome.wustl.edu	37	4	1388345	1388346	+	Frame_Shift_Del	DEL	CA	CA	-	rs575561207	byFrequency	TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	CA	CA	CA	-	CA	CA	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr4:1388345_1388346delCA	ENST00000324803.4	+	1	3006_3007	c.46_47delCA	c.(46-48)cacfs	p.H16fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	16					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.584														189	0.0377396	0.0545	0.0317	5008	,	,		18966	0.0308		0.0	False		,,,				2504	0.0654					dbGAP											0			4																																								1378346	SO:0001589	frameshift_variant	0			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.46_47delCA	4.37:g.1388347_1388348delCA	ENSP00000323978:p.His16fs	Somatic	0	0.00	0		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	1378345	0	12.50	5	Q8NB03	Frame_Shift_Del	DEL	HMMSmart_PostSET	p.T17fs	ENST00000324803.4	37	c.46_47	CCDS3349.1	4																																																																																			-	NULL		0.584	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	protein_coding	OTTHUMT00000241607.2	CA	NM_175918		1378346	+1	no_errors	NM_175918.3	genbank	human	validated	54_36p	frame_shift_del	DEL	0.758:0.787	-
