#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_ ensembl_gene_id	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_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_GMAF	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_dbSNP	i_default_gene_name	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_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
MFRP	83552	genome.wustl.edu	37	11	119216560	119216560	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr11:119216560G>T	ENST00000530681.1	-	4	494	c.350C>A	c.(349-351)cCc>cAc	p.P117H	MFRP_ENST00000449574.2_Missense_Mutation_p.P117H|MFRP_ENST00000360167.4_Missense_Mutation_p.P117H|MFRP_ENST00000529147.1_5'UTR|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.P117H	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	117	Poly-Thr.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ggtgatggtgggggtggtggt	0.657													ENSG00000235718																																					0													47.0	53.0	51.0					11																	119216560		2199	4295	6494	SO:0001583	missense	0			-	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.350C>A	11.37:g.119216560G>T	ENSP00000456533:p.Pro117His		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.P117H	ENST00000530681.1	37	c.350	CCDS8421.1	11	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679321	0.29783	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.68765	-0.35;-0.35;1.69	4.15	1.07	0.20283	.	1.069120	0.07247	N	0.865284	T	0.52075	0.1712	L	0.34521	1.04	0.09310	N	1	P;B	0.40619	0.724;0.289	B;B	0.40901	0.343;0.06	T	0.34601	-0.9822	10	0.15499	T	0.54	-0.3369	4.9736	0.14129	0.2048:0.1883:0.6069:0.0	.	117;117	B4DHN8;Q9BY79	.;MFRP_HUMAN	H	117	ENSP00000450509:P117H;ENSP00000391664:P117H;ENSP00000353291:P117H	ENSP00000353291:P117H	P	-	2	0	MFRP	118721770	0.001000	0.12720	0.000000	0.03702	0.269000	0.26545	0.125000	0.15749	0.116000	0.18110	-0.311000	0.09066	CCC	-	MFRP	-	NULL		0.657	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	HGNC	protein_coding	OTTHUMT00000415179.1	0	0	0	28	28	33	0.00	0.00	G	NM_031433		119216560	-1	32	3	25	11	tier1	no_errors	ENST00000449574	ensembl	human	known	74_37	missense	56.14	21.43	SNP	0.000	T	32	25
PPARA	5465	genome.wustl.edu	37	22	46594478	46594478	+	Silent	SNP	G	G	C	rs369963518		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr22:46594478G>C	ENST00000396000.2	+	3	463	c.198G>C	c.(196-198)tcG>tcC	p.S66S	PPARA_ENST00000402126.1_Silent_p.S66S|PPARA_ENST00000262735.5_Silent_p.S66S|PPARA_ENST00000434345.2_Silent_p.S66S|PPARA_ENST00000407236.1_Silent_p.S66S			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	66					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CAGATGGCTCGGTCATCACGG	0.403													ENSG00000186951																																					0													63.0	67.0	66.0					22																	46594478		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.198G>C	22.37:g.46594478G>C			B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S66	ENST00000396000.2	37	c.198	CCDS33669.1	22																																																																																			-	PPARA	-	prints_1Cnucl_rcpt_A		0.403	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	HGNC	protein_coding	OTTHUMT00000318129.3	0	0	0	51	51	92	0.00	0.00	G	NM_001001928		46594478	+1	10	13	23	58	tier1	no_errors	ENST00000262735	ensembl	human	known	74_37	silent	30.30	18.31	SNP	0.032	C	10	23
COL5A3	50509	genome.wustl.edu	37	19	10091766	10091766	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:10091766G>C	ENST00000264828.3	-	33	2588	c.2503C>G	c.(2503-2505)Cca>Gca	p.P835A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	835	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTTCTTACTGGTGGTCCCCGC	0.542													ENSG00000080573																																					0													109.0	89.0	96.0					19																	10091766		2203	4300	6503	SO:0001583	missense	0			-	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2503C>G	19.37:g.10091766G>C	ENSP00000264828:p.Pro835Ala		Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P835A	ENST00000264828.3	37	c.2503	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367498	0.24771	.	.	ENSG00000080573	ENST00000264828	D	0.83335	-1.71	4.81	3.7	0.42460	.	0.262006	0.31989	N	0.006759	T	0.79137	0.4395	L	0.38733	1.17	0.34653	D	0.72185	D	0.55605	0.972	P	0.51615	0.675	T	0.80339	-0.1424	10	0.25106	T	0.35	.	9.5791	0.39477	0.0:0.0:0.6611:0.3389	.	835	P25940	CO5A3_HUMAN	A	835	ENSP00000264828:P835A	ENSP00000264828:P835A	P	-	1	0	COL5A3	9952766	1.000000	0.71417	0.911000	0.35937	0.823000	0.46562	3.637000	0.54324	2.220000	0.72140	0.313000	0.20887	CCA	-	COL5A3	-	NULL		0.542	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	0	0	0	36	36	63	0.00	0.00	G	NM_015719		10091766	-1	5	11	26	51	tier1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	16.13	17.74	SNP	0.997	C	5	26
TRPV4	59341	genome.wustl.edu	37	12	110224582	110224582	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr12:110224582G>A	ENST00000418703.2	-	13	2363	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	TRPV4_ENST00000544971.1_Missense_Mutation_p.R650C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	757					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCCCAGAGCGGAAGGCCTTC	0.662													ENSG00000111199																																					0													90.0	66.0	74.0					12																	110224582		2203	4300	6503	SO:0001583	missense	0			-	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2269C>T	12.37:g.110224582G>A	ENSP00000406191:p.Arg757Cys		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.R757C	ENST00000418703.2	37	c.2269	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870825	0.91587	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.996;0.997	D	0.95905	0.8918	10	0.87932	D	0	-31.3539	16.8762	0.86052	0.0:0.0:1.0:0.0	.	697;757;650;710;723	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	757;757;710;697;650;697;710;723	ENSP00000406191:R757C;ENSP00000261740:R757C;ENSP00000376480:R710C;ENSP00000319003:R697C;ENSP00000443611:R650C;ENSP00000442738:R697C;ENSP00000442167:R710C;ENSP00000444336:R723C	ENSP00000261740:R757C	R	-	1	0	TRPV4	108708965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.827000	0.69300	2.645000	0.89757	0.655000	0.94253	CGC	-	TRPV4	-	tigrfam_TRP_channel		0.662	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	0	0	0	58	58	26	0.00	0.00	G	NM_021625		110224582	-1	13	2	49	18	tier1	no_errors	ENST00000261740	ensembl	human	known	74_37	missense	20.63	10.00	SNP	1.000	A	13	49
SATB2	23314	genome.wustl.edu	37	2	200213845	200213845	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:200213845C>T	ENST00000417098.1	-	7	1568	c.752G>A	c.(751-753)cGt>cAt	p.R251H	SATB2_ENST00000260926.5_Missense_Mutation_p.R251H|SATB2_ENST00000457245.1_Missense_Mutation_p.R251H|SATB2_ENST00000428695.1_Missense_Mutation_p.R133H|SATB2_ENST00000443023.1_Missense_Mutation_p.R192H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	251					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATGCATTGGACGCTGGCCCAG	0.413													ENSG00000119042																									Colon(30;262 767 11040 24421 36230)												0													138.0	124.0	129.0					2																	200213845		2203	4300	6503	SO:0001583	missense	0			-	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.752G>A	2.37:g.200213845C>T	ENSP00000401112:p.Arg251His		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R251H	ENST00000417098.1	37	c.752	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869393	0.51588	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.47	5.47	0.80525	.	0.143132	0.46442	D	0.000290	T	0.44685	0.1305	N	0.08118	0	0.38184	D	0.939698	B;D	0.69078	0.291;0.997	B;P	0.56865	0.02;0.808	T	0.46721	-0.9171	10	0.23891	T	0.37	-9.9323	19.692	0.96007	0.0:1.0:0.0:0.0	.	133;251	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	H	251;192;251;133;251	ENSP00000401112:R251H;ENSP00000388764:R192H;ENSP00000260926:R251H;ENSP00000388581:R133H;ENSP00000405420:R251H	ENSP00000260926:R251H	R	-	2	0	SATB2	199922090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.850000	0.62889	2.735000	0.93741	0.655000	0.94253	CGT	-	SATB2	-	NULL		0.413	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	0	0	0	116	116	96	0.00	0.00	C	NM_015265		200213845	-1	21	26	94	60	tier1	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	18.26	30.23	SNP	1.000	T	21	94
AP2A1	160	genome.wustl.edu	37	19	50303239	50303239	+	Silent	SNP	C	C	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:50303239C>T	ENST00000359032.5	+	11	1287	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	AP2A1_ENST00000354293.5_Silent_p.A429A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	429					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGAAGGTGGCCATCCTGGCCG	0.627													ENSG00000196961																																					0													68.0	75.0	72.0					19																	50303239		2120	4238	6358	SO:0001819	synonymous_variant	0			-	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1287C>T	19.37:g.50303239C>T			Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.A429	ENST00000359032.5	37	c.1287	CCDS46148.1	19																																																																																			-	AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.627	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	0	0	0	40	40	77	0.00	0.00	C			50303239	+1	6	6	42	36	tier1	no_errors	ENST00000354293	ensembl	human	known	74_37	silent	12.50	14.29	SNP	1.000	T	6	42
KLHL6	89857	genome.wustl.edu	37	3	183211912	183211912	+	Silent	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr3:183211912G>A	ENST00000341319.3	-	5	1340	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	435					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.I435I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCACATTGTTGATTCTCTGTA	0.453													ENSG00000172578																																					1	Substitution - coding silent(1)	kidney(1)											256.0	239.0	245.0					3																	183211912		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1305C>T	3.37:g.183211912G>A			B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I435	ENST00000341319.3	37	c.1305	CCDS3245.2	3																																																																																			-	KLHL6	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.453	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	0	0	0	51	51	76	0.00	0.00	G	NM_130446		183211912	-1	13	30	32	92	tier1	no_errors	ENST00000341319	ensembl	human	known	74_37	silent	28.89	24.59	SNP	1.000	A	13	32
RBMXL3	139804	genome.wustl.edu	37	X	114425571	114425571	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:114425571G>A	ENST00000424776.3	+	1	1609	c.1567G>A	c.(1567-1569)Gga>Aga	p.G523R	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	523	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						TGCCAACAGCGGAGGCCGTTC	0.627													ENSG00000175718																																					0													32.0	35.0	34.0					X																	114425571		692	1591	2283	SO:0001583	missense	0			-	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1567G>A	X.37:g.114425571G>A	ENSP00000417451:p.Gly523Arg		B4DXC0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G523R	ENST00000424776.3	37	c.1567	CCDS55478.1	X	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680722	0.29872	.	.	ENSG00000175718	ENST00000424776	T	0.07800	3.16	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.21553	N	0.999645	D	0.89917	1.0	D	0.83275	0.996	T	0.27673	-1.0067	9	0.87932	D	0	.	3.6466	0.08187	2.0E-4:0.4946:0.505:2.0E-4	.	523	Q8N7X1	RMXL3_HUMAN	R	523	ENSP00000417451:G523R	ENSP00000417451:G523R	G	+	1	0	RBMXL3	114331827	0.010000	0.17322	0.039000	0.18376	0.039000	0.13416	0.581000	0.23819	0.122000	0.18314	0.124000	0.15798	GGA	-	RBMXL3	-	NULL		0.627	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	0	0	0	98	98	53	0.00	0.00	G	NM_001145346		114425571	+1	28	10	81	30	tier1	no_errors	ENST00000424776	ensembl	human	known	74_37	missense	25.69	25.00	SNP	0.935	A	28	81
SREBF1	6720	genome.wustl.edu	37	17	17722392	17722392	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr17:17722392A>G	ENST00000261646.5	-	5	1187	c.1003T>C	c.(1003-1005)Tac>Cac	p.Y335H	SREBF1_ENST00000435530.2_Missense_Mutation_p.Y335H|SREBF1_ENST00000355815.4_Missense_Mutation_p.Y365H|SREBF1_ENST00000395757.1_Missense_Mutation_p.Y81H|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.Y335H	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	335	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GAGGAGCGGTAGCGCTTCTCA	0.617													ENSG00000072310																																					0													98.0	91.0	93.0					17																	17722392		2203	4300	6503	SO:0001583	missense	0			-	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1003T>C	17.37:g.17722392A>G	ENSP00000261646:p.Tyr335His		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Y365H	ENST00000261646.5	37	c.1093	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.96|14.96	2.690747|2.690747	0.48097|0.48097	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|D;D;D;D;D	.|0.98178	.|-4.77;-4.77;-4.77;-4.77;-4.77	4.62|4.62	4.62|4.62	0.57501|0.57501	.|Helix-loop-helix DNA-binding (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99180|0.99180	0.9716|0.9716	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.999	D|D	0.99164|0.99164	1.0862|1.0862	5|10	.|0.87932	.|D	.|0	-5.6582|-5.6582	13.6947|13.6947	0.62569|0.62569	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|335;311;335;365	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	P|H	342|335;365;335;81;172;261;335	.|ENSP00000345822:Y335H;ENSP00000348069:Y365H;ENSP00000261646:Y335H;ENSP00000379106:Y81H;ENSP00000413389:Y335H	.|ENSP00000261646:Y335H	L|Y	-|-	2|1	0|0	SREBF1|SREBF1	17663117|17663117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.134000|9.134000	0.94467|0.94467	1.707000|1.707000	0.51288|0.51288	0.459000|0.459000	0.35465|0.35465	CTA|TAC	-	SREBF1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.617	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	0	0	0	58	58	33	0.00	0.00	A	NM_004176		17722392	-1	15	11	52	32	tier1	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	22.39	25.58	SNP	1.000	G	15	52
B4GALNT1	2583	genome.wustl.edu	37	12	58022646	58022646	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr12:58022646C>A	ENST00000341156.4	-	8	1436	c.852G>T	c.(850-852)aaG>aaT	p.K284N	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.K229N|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.K251N|B4GALNT1_ENST00000550943.1_5'Flank	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	284					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGAAGGTCTTGGTGGCAA	0.577													ENSG00000135454																																					0													84.0	77.0	80.0					12																	58022646		2203	4300	6503	SO:0001583	missense	0			-	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.852G>T	12.37:g.58022646C>A	ENSP00000341562:p.Lys284Asn		B4DE26|Q8N636	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.K284N	ENST00000341156.4	37	c.852	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	24.3	4.518128	0.85495	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.61274	0.12;0.12	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.051303	0.85682	D	0.000000	T	0.79028	0.4377	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.97110	0.975;0.911;1.0	T	0.82462	-0.0445	10	0.72032	D	0.01	-12.1872	10.8265	0.46635	0.0:0.9128:0.0:0.0872	.	251;229;284	B4DSP5;B4DE26;Q00973	.;.;B4GN1_HUMAN	N	284;229	ENSP00000341562:K284N;ENSP00000401601:K229N	ENSP00000341562:K284N	K	-	3	2	B4GALNT1	56308913	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.282000	0.33226	2.640000	0.89533	0.655000	0.94253	AAG	-	B4GALNT1	-	pfam_Glyco_trans_2,pirsf_GM2_synthase		0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	0	0	0	80	80	106	0.00	0.00	C	NM_001478		58022646	-1	60	90	658	637	tier1	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	8.34	12.38	SNP	1.000	A	60	658
ZNF479	90827	genome.wustl.edu	37	7	57188683	57188683	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr7:57188683G>T	ENST00000331162.4	-	5	709	c.439C>A	c.(439-441)Caa>Aaa	p.Q147K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GACAAACATTGGTTAACTTCA	0.303													ENSG00000185177																																					0													91.0	85.0	87.0					7																	57188683		1857	4112	5969	SO:0001583	missense	0			-	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.439C>A	7.37:g.57188683G>T	ENSP00000333776:p.Gln147Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q147K	ENST00000331162.4	37	c.439	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	11.38	1.622934	0.28889	.	.	ENSG00000185177	ENST00000331162	T	0.37584	1.19	1.6	1.6	0.23607	.	.	.	.	.	T	0.44726	0.1307	L	0.45137	1.4	0.09310	N	1	D	0.54964	0.969	D	0.64877	0.93	T	0.16041	-1.0416	9	0.51188	T	0.08	.	6.5504	0.22431	0.0:0.0:1.0:0.0	.	147	Q96JC4	ZN479_HUMAN	K	147	ENSP00000333776:Q147K	ENSP00000333776:Q147K	Q	-	1	0	ZNF479	57192625	0.000000	0.05858	0.017000	0.16124	0.019000	0.09904	-0.180000	0.09754	0.867000	0.35654	0.400000	0.26472	CAA	-	ZNF479	-	NULL		0.303	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	0	0	0	119	119	56	0.00	0.00	G	XM_291202		57188683	-1	32	10	83	50	tier1	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	27.83	16.67	SNP	0.046	T	32	83
CEPT1	10390	genome.wustl.edu	37	1	111703576	111703576	+	Intron	DEL	A	A	-	rs571497696	byFrequency	TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr1:111703576delA	ENST00000545121.1	+	4	695				CEPT1_ENST00000357172.4_Intron	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GTGATTTGGTAAAAAAAAAAA	0.299													ENSG00000134255	|||unknown(HR)	1547	0.308906	0.3056	0.3242	5008	,	,		16440	0.3393		0.3181	False		,,,				2504	0.2618																0																																										SO:0001627	intron_variant	0				AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.488-201A>-	1.37:g.111703576delA			Q69YJ9|Q9P0Y8	R	DEL	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																				CEPT1	-	-		0.299	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	0	0	0	21	21	24	0.00	0.00	A	NM_006090		111703576	+1	3	3	11	22	tier1	no_errors	ENST00000480324	ensembl	human	known	74_37	rna	21.43	12.00	DEL	0.207	-	3	11
PDLIM5	10611	genome.wustl.edu	37	4	95504021	95504022	+	Intron	INS	-	-	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr4:95504021_95504022insT	ENST00000317968.4	+	6	846				PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000542407.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CATAAGAAGCATTTTTTTTTAT	0.282													ENSG00000163110																																					0																																										SO:0001627	intron_variant	0				AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.711-2694->T	4.37:g.95504030_95504030dupT			A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	R	INS	-	NULL	ENST00000317968.4	37	NULL	CCDS3641.1	4																																																																																				PDLIM5	-	-		0.282	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	0	0	0	32	32	59	0.00	0.00	-			95504022	+1	4	7	22	44	tier1	no_errors	ENST00000508531	ensembl	human	known	74_37	rna	15.38	13.73	INS	0.000:0.018	T	4	22
ZNF880	400713	genome.wustl.edu	37	19	52887558	52887558	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:52887558G>A	ENST00000422689.2	+	4	740	c.725G>A	c.(724-726)tGt>tAt	p.C242Y		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	242					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CCTTACAAGTGTCATGAATGT	0.388													ENSG00000221923																																					0													39.0	37.0	37.0					19																	52887558		1568	3582	5150	SO:0001583	missense	0			-	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.725G>A	19.37:g.52887558G>A	ENSP00000406318:p.Cys242Tyr		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C242Y	ENST00000422689.2	37	c.725	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	9.260	1.042884	0.19748	.	.	ENSG00000221923	ENST00000422689	D	0.85088	-1.94	2.03	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94105	0.8110	H	0.96015	3.755	0.27972	N	0.936389	D	0.89917	1.0	D	0.97110	1.0	D	0.86479	0.1790	8	.	.	.	.	11.0678	0.47985	0.0:0.0:1.0:0.0	.	242	Q6PDB4	ZN880_HUMAN	Y	242	ENSP00000406318:C242Y	.	C	+	2	0	ZNF880	57579370	1.000000	0.71417	0.052000	0.19188	0.115000	0.19883	7.322000	0.79097	1.110000	0.41699	0.551000	0.68910	TGT	-	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	0	0	0	32	32	18	0.00	0.00	G	NM_001145434		52887558	+1	4	6	20	6	tier1	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	16.67	50.00	SNP	0.735	A	4	20
RP11-640M9.2	0	genome.wustl.edu	37	1	144598744	144598744	+	RNA	SNP	C	C	T	rs372140203	byFrequency	TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr1:144598744C>T	ENST00000419820.1	+	0	672																											CAACCTCACACGGTGTGGGCC	0.542													ENSG00000225241	.|||	3	0.000599042	0.0008	0.0	5008	,	,		51340	0.002		0.0	False		,,,				2504	0.0																0																																												0			-																													1.37:g.144598744C>T				R	SNP	-	NULL	ENST00000419820.1	37	NULL		1																																																																																			-	RP11-640M9.2	-	-		0.542	RP11-640M9.2-011	KNOWN	basic	processed_transcript	ENSG00000225241	Clone_based_vega_gene	pseudogene	OTTHUMT00000038365.1	0	0	0	42	42	131	0.00	0.00	C			144598744	+1	5	6	38	104	tier1	no_errors	ENST00000419820	ensembl	human	known	74_37	rna	11.63	5.41	SNP	0.001	T	5	38
DNM1P47	100216544	genome.wustl.edu	37	15	102297549	102297549	+	RNA	SNP	A	A	C	rs71260650		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr15:102297549A>C	ENST00000561463.1	+	0	5595									DNM1 pseudogene 47																		CGGAACCTGCAGACACTCGTG	0.572													ENSG00000259660																																					0																																												0			-	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102297549A>C				R	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			rs71260650	DNM1P47	-	-		0.572	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	0	0	0	12	12	0	0.00	0.00	A	NG_009149		102297549	+1	11	0	10	0	tier1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	52.38	0.00	SNP	0.917	C	11	10
TEX13A	56157	genome.wustl.edu	37	X	104464405	104464405	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:104464405C>T	ENST00000413579.1	-	3	584	c.473G>A	c.(472-474)gGg>gAg	p.G158E	TEX13A_ENST00000372578.3_Missense_Mutation_p.G158E|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G158E			Q9BXU3	TX13A_HUMAN	testis expressed 13A	158							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCTGGCCACCCTGCCCCCTG	0.652													ENSG00000133149																																					0													18.0	21.0	20.0					X																	104464405		2009	4027	6036	SO:0001583	missense	0			-	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.473G>A	X.37:g.104464405C>T	ENSP00000399753:p.Gly158Glu		B1B1G8|Q32NB6	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.G158E	ENST00000413579.1	37	c.473		X	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.899462	0.00517	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.89	-5.78	0.02362	.	2.680480	0.01965	N	0.043616	T	0.09158	0.0226	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.23619	-1.0183	8	0.02654	T	1	.	1.0845	0.01650	0.1727:0.2947:0.3272:0.2054	.	158;158	C9JWK0;Q9BXU3	.;TX13A_HUMAN	E	158	.	ENSP00000361656:G158E	G	-	2	0	TEX13A	104351061	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.679000	0.05203	-1.507000	0.01803	-0.558000	0.04189	GGG	-	TEX13A	-	NULL		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding		0	0	0	27	27	2	0.00	0.00	C	NM_031274		104464405	-1	13	0	17	2	tier1	no_errors	ENST00000413579	ensembl	human	known	74_37	missense	43.33	0.00	SNP	0.000	T	13	17
PNCK	139728	genome.wustl.edu	37	X	152938410	152938411	+	Intron	DEL	AC	AC	-	rs201978519|rs10542443		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:152938410_152938411delAC	ENST00000370150.1	-	2	247				PNCK_ENST00000370145.4_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370142.1_Intron|PNCK_ENST00000393831.2_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000475172.1_Intron			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					tcacacaggtacacacacacac	0.55													ENSG00000130822																																					0																																										SO:0001627	intron_variant	0				BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.68+52GT>-	X.37:g.152938420_152938421delAC			B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	R	DEL	-	NULL	ENST00000370150.1	37	NULL		X																																																																																				PNCK	-	-		0.550	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	HGNC	protein_coding	OTTHUMT00000061044.2	0	0	0	27	27	1	0.00	0.00	AC	NM_198452		152938411	-1	9	0	40	5	tier1	no_errors	ENST00000462280	ensembl	human	putative	74_37	rna	18.37	0.00	DEL	0.001:0.002	-	9	40
OPN1MW2	728458	genome.wustl.edu	37	X	153492789	153492789	+	Missense_Mutation	SNP	G	G	T	rs139163406		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:153492789G>T	ENST00000369929.4	+	3	598	c.538G>T	c.(538-540)Gct>Tct	p.A180S	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	180					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGATCTGGGCTGCTGTGTG	0.567													ENSG00000166160																																					0													1.0	1.0	1.0					X																	153492789		575	867	1442	SO:0001583	missense	0			-		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.538G>T	X.37:g.153492789G>T	ENSP00000358945:p.Ala180Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.A180S	ENST00000369929.4	37	c.538	CCDS35447.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.004|0.004	-2.252386|-2.252386	0.00268|0.00268	.|.	.|.	ENSG00000166160|ENSG00000166160	ENST00000369929|ENST00000430419	T|.	0.34667|.	1.35|.	2.65|2.65	0.698|0.698	0.18087|0.18087	.|.	0.388144|.	0.28349|.	N|.	0.015679|.	T|T	0.56891|0.56891	0.2016|0.2016	.|.	.|.	.|.	0.48236|0.48236	D|D	0.999611|0.999611	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47873|0.47873	-0.9083|-0.9083	7|4	0.22109|.	T|.	0.4|.	.|.	9.0731|9.0731	0.36504|0.36504	0.0:0.0:0.4436:0.5564|0.0:0.0:0.4436:0.5564	.|.	.|.	.|.	.|.	S|V	180|42	ENSP00000358945:A180S|.	ENSP00000358945:A180S|.	A|G	+|+	1|2	0|0	OPN1MW2|OPN1MW2	153145983|153145983	0.000000|0.000000	0.05858|0.05858	0.956000|0.956000	0.39512|0.39512	0.016000|0.016000	0.09150|0.09150	-3.673000|-3.673000	0.00397|0.00397	-0.164000|-0.164000	0.10927|0.10927	-1.182000|-1.182000	0.01712|0.01712	GCT|GGC	rs139163406	OPN1MW2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW2	HGNC	protein_coding	OTTHUMT00000061149.2	0	0	0	11	11	0	0.00	0.00	G	NM_001048181		153492789	+1	5	0	3	0	tier1	no_errors	ENST00000369929	ensembl	human	known	74_37	missense	62.50	0.00	SNP	0.989	T	5	3
WASH3P	374666	genome.wustl.edu	37	15	102506815	102506816	+	RNA	DEL	CC	CC	-	rs151176585		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr15:102506815_102506816delCC	ENST00000557932.1	+	0	172							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						tacctctccacctggagcgcac	0.421													ENSG00000185596																																					0																																												0						15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506815_102506816delCC				R	DEL	-	NULL	ENST00000557932.1	37	NULL		15																																																																																				WASH3P	-	-		0.421	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1	0	0	0	11	11	0	0.00	0.00	CC	NM_199163		102506816	+1	4	0	5	0	tier1	no_errors	ENST00000559884	ensembl	human	known	74_37	rna	44.44	0.00	DEL	0.000:0.000	-	4	5
RAB9B	51209	genome.wustl.edu	37	X	103080614	103080614	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:103080614G>T	ENST00000243298.2	-	3	385	c.101C>A	c.(100-102)tCc>tAc	p.S34Y		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	34					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						AAAAGCCTGGGAGTCAAATTT	0.473													ENSG00000123570																																					0													116.0	107.0	110.0					X																	103080614		2203	4300	6503	SO:0001583	missense	0			-	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.101C>A	X.37:g.103080614G>T	ENSP00000243298:p.Ser34Tyr		B2R8M0|Q52LX2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S34Y	ENST00000243298.2	37	c.101	CCDS14515.1	X	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891399	0.72524	.	.	ENSG00000123570	ENST00000243298	T	0.78003	-1.14	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	L	0.35793	1.09	0.80722	D	1	D	0.53745	0.962	P	0.59424	0.857	T	0.83259	-0.0049	10	0.72032	D	0.01	-23.3812	16.5572	0.84488	0.0:0.0:1.0:0.0	.	34	Q9NP90	RAB9B_HUMAN	Y	34	ENSP00000243298:S34Y	ENSP00000243298:S34Y	S	-	2	0	RAB9B	102967270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.518000	0.84900	0.600000	0.82982	TCC	-	RAB9B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.473	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9B	HGNC	protein_coding	OTTHUMT00000057746.1	0	0	0	36	36	121	0.00	0.00	G			103080614	-1	4	2	37	111	tier1	no_errors	ENST00000243298	ensembl	human	known	74_37	missense	9.76	1.77	SNP	1.000	T	4	37
