#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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTB	60	genome.wustl.edu	37	7	5567503	5567503	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr7:5567503C>G	ENST00000331789.5	-	6	1195	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	335					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGAGTACTTGCGCTCAGGAGG	0.627																																						dbGAP											0													84.0	84.0	84.0					7																	5567503		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1004G>C	7.37:g.5567503C>G	ENSP00000349960:p.Arg335Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R335P	ENST00000331789.5	37	c.1004	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	C	12.51	1.961080	0.34565	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95949	-3.86	5.55	4.67	0.58626	.	0.000000	0.64402	D	0.000012	D	0.98745	0.9578	H	0.99357	4.53	0.48901	D	0.999722	P	0.50443	0.935	D	0.72625	0.978	D	0.98874	1.0767	10	0.87932	D	0	.	13.5147	0.61533	0.0:0.925:0.0:0.075	.	335	P60709	ACTB_HUMAN	P	335;311;307;254	ENSP00000349960:R335P	ENSP00000440549:R254P	R	-	2	0	ACTB	5534029	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.533000	0.81994	1.358000	0.45922	-0.141000	0.14075	CGC	ACTB	-	pfam_Actin-like,smart_Actin-like	ENSG00000075624		0.627	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	35	0.00	0	C	NM_001101		5567503	5567503	-1	no_errors	ENST00000331789	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	G
ACTG2	72	genome.wustl.edu	37	2	74146651	74146651	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr2:74146651G>T	ENST00000409624.1	+	10	1723	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	ACTG2_ENST00000345517.3_Missense_Mutation_p.K360N|ACTG2_ENST00000409731.3_Missense_Mutation_p.K317N			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	360					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						GGATCAGCAAGCCTGAGTATG	0.537																																						dbGAP											0													80.0	79.0	79.0					2																	74146651		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1080G>T	2.37:g.74146651G>T	ENSP00000386857:p.Lys360Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.K360N	ENST00000409624.1	37	c.1080	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389650	0.42410	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.96774	-4.12;-4.12;-4.12	4.8	3.0	0.34707	Actin, conserved site (1);	0.676690	0.12979	N	0.423417	D	0.98532	0.9510	H	0.98238	4.18	0.38510	D	0.948448	D;D	0.69078	0.997;0.98	D;D	0.75484	0.984;0.986	D	0.97570	1.0104	10	0.87932	D	0	.	5.2999	0.15772	0.3546:0.0:0.6454:0.0	.	317;360	E9PG30;P63267	.;ACTH_HUMAN	N	317;360;360	ENSP00000386929:K317N;ENSP00000295137:K360N;ENSP00000386857:K360N	ENSP00000295137:K360N	K	+	3	2	ACTG2	74000159	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.298000	0.33412	1.386000	0.46466	-0.218000	0.12543	AAG	ACTG2	-	pfam_Actin-like,smart_Actin-like	ENSG00000163017		0.537	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1	193	0.00	0	G	NM_001615		74146651	74146651	+1	no_errors	ENST00000345517	ensembl	human	known	69_37n	missense	128	26.01	45	SNP	1.000	T
BAX	581	genome.wustl.edu	37	19	49458970	49458971	+	Frame_Shift_Ins	INS	-	-	G	rs141306106|rs398122842|rs398122841|rs398122840		TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr19:49458970_49458971insG	ENST00000345358.7	+	3	165_166	c.113_114insG	c.(112-117)atggggfs	p.MG38fs	BAX_ENST00000539787.1_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000415969.2_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000293288.8_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000391871.3_Frame_Shift_Ins_p.W21fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)							,,,	38,4226		0,38,2094					,,,	4.0	0.3			58	42,8212		0,42,4085	no	frameshift,intron,frameshift,frameshift	BAX	NM_138764.4,NM_138763.3,NM_138761.3,NM_004324.3	,,,	0,80,6179	A1A1,A1R,RR		0.5088,0.8912,0.6391	,,,	,,,		80,12438				-	-	-	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.121dupG	19.37:g.49458978_49458978dupG	ENSP00000263262:p.Met38fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Ins	INS	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.E41fs	ENST00000345358.7	37	c.113_114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.594	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	27	0.00	0	-	NM_138763		49458970	49458971	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	0.585:0.588	G
C10orf71	118461	genome.wustl.edu	37	10	50532174	50532174	+	Silent	SNP	A	A	G			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr10:50532174A>G	ENST00000374144.3	+	3	1872	c.1584A>G	c.(1582-1584)agA>agG	p.R528R	C10orf71_ENST00000323868.4_Silent_p.R528R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	528										endometrium(1)	1						AGAAAACTAGAGGTAAGGTTG	0.502																																						dbGAP											0													71.0	75.0	74.0					10																	50532174		2026	4175	6201	-	-	-	SO:0001819	synonymous_variant	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1584A>G	10.37:g.50532174A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL8	Silent	SNP	NULL	p.R528	ENST00000374144.3	37	c.1584	CCDS44387.1	10																																																																																			C10orf71	-	NULL	ENSG00000177354		0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	177	0.00	0	A	NM_199459		50532174	50532174	+1	no_errors	ENST00000374144	ensembl	human	known	69_37n	silent	79	22.55	23	SNP	0.000	G
CNOT3	4849	genome.wustl.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.P244fs	ENST00000406403.1	37	c.724_725	CCDS12880.1	19																																																																																			CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	23	0.00	0	-	NM_014516		54649666	54649667	+1	no_errors	ENST00000221232	ensembl	human	known	69_37n	frame_shift_ins	52	10.34	6	INS	1.000:1.000	C
CPT1C	126129	genome.wustl.edu	37	19	50208555	50208555	+	Splice_Site	SNP	G	G	T			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr19:50208555G>T	ENST00000392518.4	+	10	1336	c.964G>T	c.(964-966)Gac>Tac	p.D322Y	CPT1C_ENST00000598293.1_Splice_Site_p.D322Y|CPT1C_ENST00000354199.5_Splice_Site_p.D322Y|CPT1C_ENST00000405931.2_Splice_Site_p.D311Y|CPT1C_ENST00000323446.5_Splice_Site_p.D322Y	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	322					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGTCCAAAAAGGTGAGACCCT	0.537																																						dbGAP											0													131.0	118.0	122.0					19																	50208555		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.964+1G>T	19.37:g.50208555G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.D322Y	ENST00000392518.4	37	c.964	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979411	0.74360	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	4.24	4.24	0.50183	.	0.000000	0.51477	D	0.000090	D	0.97427	0.9158	M	0.93016	3.37	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.939;0.996;0.998	D	0.97585	1.0113	10	0.87932	D	0	-24.7484	9.9389	0.41567	0.1001:0.0:0.8999:0.0	.	193;322;311;322	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	Y	322;322;311;322;193	ENSP00000376303:D322Y;ENSP00000346138:D322Y;ENSP00000384465:D311Y;ENSP00000319343:D322Y	ENSP00000295404:D193Y	D	+	1	0	CPT1C	54900367	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.617000	0.74210	2.203000	0.70933	0.561000	0.74099	GAC	CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.537	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	48	0.00	0	G	NM_152359	Missense_Mutation	50208555	50208555	+1	no_errors	ENST00000323446	ensembl	human	known	69_37n	missense	49	28.99	20	SNP	1.000	T
ERBB2IP	55914	genome.wustl.edu	37	5	65370946	65370946	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr5:65370946A>T	ENST00000284037.5	+	23	4240	c.3851A>T	c.(3850-3852)cAt>cTt	p.H1284L	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H1243L|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H1243L|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H1243L|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H1239L|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H1291L|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H1232L|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.H482L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1284					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTGGCAAGGCATCCCTCTAGA	0.488																																						dbGAP											0													116.0	118.0	117.0					5																	65370946		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3851A>T	5.37:g.65370946A>T	ENSP00000284037:p.His1284Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.H1284L	ENST00000284037.5	37	c.3851	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863045	0.71949	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	T;T;T;T;T;T;T;T	0.38401	1.32;1.37;1.34;1.27;1.24;1.14;1.37;1.31	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	L	0.49126	1.545	0.80722	D	1	D;D;P;P;B;D;D	0.89917	0.995;1.0;0.679;0.822;0.181;0.999;1.0	D;D;B;B;B;D;D	0.91635	0.979;0.999;0.331;0.411;0.136;0.991;0.996	T	0.56414	-0.7983	10	0.62326	D	0.03	.	16.3492	0.83195	1.0:0.0:0.0:0.0	.	482;1243;1291;1291;1239;1284;1243	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.	L	1284;1243;482;1232;1243;1243;1239;1291;121	ENSP00000284037:H1284L;ENSP00000370330:H1243L;ENSP00000397833:H482L;ENSP00000370326:H1232L;ENSP00000370323:H1243L;ENSP00000370325:H1243L;ENSP00000422766:H1239L;ENSP00000426632:H1291L	ENSP00000284037:H1284L	H	+	2	0	ERBB2IP	65406702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.546000	0.90661	2.266000	0.75297	0.528000	0.53228	CAT	ERBB2IP	-	NULL	ENSG00000112851		0.488	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	388	0.00	0	A	NM_018695		65370946	65370946	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	missense	176	22.27	51	SNP	1.000	T
LRP4	4038	genome.wustl.edu	37	11	46917494	46917495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr11:46917494_46917495insC	ENST00000378623.1	-	10	1365_1366	c.1123_1124insG	c.(1123-1125)gcafs	p.A375fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	375	EGF-like 1; calcium-binding. {ECO:0000255}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACACTGCACTGCCCCCCGCACC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1124dupG	11.37:g.46917500_46917500dupC	ENSP00000367888:p.Ala375fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A375fs	ENST00000378623.1	37	c.1124_1123	CCDS31478.1	11																																																																																			LRP4	-	superfamily_Growth_fac_rcpt,smart_EGF-like	ENSG00000134569		0.629	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	39	0.00	0	-	NM_002334		46917494	46917495	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	frame_shift_ins	26	13.33	4	INS	0.850:0.844	C
MERTK	10461	genome.wustl.edu	37	2	112786351	112786351	+	Silent	SNP	C	C	T			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr2:112786351C>T	ENST00000295408.4	+	19	3167	c.2910C>T	c.(2908-2910)tcC>tcT	p.S970S	MERTK_ENST00000409780.1_Silent_p.S794S|MERTK_ENST00000421804.2_Silent_p.S970S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	970					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCTCCTGGTCCCATTCGAGCA	0.527																																						dbGAP											0													49.0	45.0	47.0					2																	112786351		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2910C>T	2.37:g.112786351C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBB4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S970	ENST00000295408.4	37	c.2910	CCDS2094.1	2																																																																																			MERTK	-	NULL	ENSG00000153208		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	102	0.00	0	C			112786351	112786351	+1	no_errors	ENST00000295408	ensembl	human	known	69_37n	silent	33	31.25	15	SNP	0.348	T
PADI3	51702	genome.wustl.edu	37	1	17609568	17609568	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr1:17609568delG	ENST00000375460.3	+	16	2029	c.1989delG	c.(1987-1989)gtgfs	p.V663fs		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	663					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAACATGGTGCCCTGAGACA	0.572																																						dbGAP											0													90.0	74.0	79.0					1																	17609568		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1989delG	1.37:g.17609568delG	ENSP00000364609:p.Val663fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q58EY7|Q70SX5	Frame_Shift_Del	DEL	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.*665fs	ENST00000375460.3	37	c.1989	CCDS179.1	1																																																																																			PADI3	-	NULL	ENSG00000142619		0.572	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	46	0.00	0	G			17609568	17609568	+1	no_errors	ENST00000375460	ensembl	human	known	69_37n	frame_shift_del	24	31.43	11	DEL	0.996	-
SRXN1	140809	genome.wustl.edu	37	20	629434	629434	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr20:629434A>T	ENST00000381962.3	-	2	522	c.338T>A	c.(337-339)aTc>aAc	p.I113N	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	113					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						CTTGGCGGGGATGGTCTCTCG	0.602																																						dbGAP											0													122.0	117.0	119.0					20																	629434		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.338T>A	20.37:g.629434A>T	ENSP00000371388:p.Ile113Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R543|Q8NDM3|Q96AK6	Missense_Mutation	SNP	pfam_ParBc,superfamily_ParBc,smart_ParBc,pirsf_Sulfiredoxin	p.I113N	ENST00000381962.3	37	c.338	CCDS13005.1	20	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600828	0.87055	.	.	ENSG00000172070	ENST00000381962	.	.	.	5.45	5.45	0.79879	ParB-like nuclease (1);	0.084266	0.45606	U	0.000352	D	0.84620	0.5512	M	0.91561	3.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87905	0.2693	9	0.87932	D	0	-15.487	12.9091	0.58171	1.0:0.0:0.0:0.0	.	113	Q9BYN0	SRXN1_HUMAN	N	113	.	ENSP00000371388:I113N	I	-	2	0	SRXN1	577434	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.658000	0.74407	2.088000	0.63022	0.528000	0.53228	ATC	SRXN1	-	pfam_ParBc,superfamily_ParBc,smart_ParBc,pirsf_Sulfiredoxin	ENSG00000172070		0.602	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRXN1	HGNC	protein_coding	OTTHUMT00000077479.2	16	0.00	0	A	NM_080725		629434	629434	-1	no_errors	ENST00000381962	ensembl	human	known	69_37n	missense	3	50.00	4	SNP	1.000	T
STK32B	55351	genome.wustl.edu	37	4	5399971	5399971	+	Splice_Site	SNP	G	G	A			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr4:5399971G>A	ENST00000282908.5	+	5	894	c.472G>A	c.(472-474)Gga>Aga	p.G158R	STK32B_ENST00000510398.1_Splice_Site_p.G111R|STK32B_ENST00000512636.1_Splice_Site_p.A111T	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GGATGAACACGGTAAGCCTGC	0.488																																						dbGAP											0													134.0	126.0	129.0					4																	5399971		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.472+1G>A	4.37:g.5399971G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G158R	ENST00000282908.5	37	c.472	CCDS3380.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.455618|3.455618	0.63401|0.63401	.|.	.|.	ENSG00000152953|ENSG00000152953	ENST00000512636|ENST00000282908;ENST00000510398	T|T;T	0.53423|0.31247	0.62|1.5;1.5	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.39475	.|U	.|0.001358	T|T	0.58061|0.58061	0.2096|0.2096	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.64635|0.64635	-0.6361|-0.6361	7|10	0.56958|0.87932	D|D	0.05|0	.|.	12.6557|12.6557	0.56786|0.56786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158	.|Q9NY57	.|ST32B_HUMAN	T|R	111|158;111	ENSP00000423209:A111T|ENSP00000282908:G158R;ENSP00000420984:G111R	ENSP00000423209:A111T|ENSP00000282908:G158R	A|G	+|+	1|1	0|0	STK32B|STK32B	5450872|5450872	0.997000|0.997000	0.39634|0.39634	0.988000|0.988000	0.46212|0.46212	0.563000|0.563000	0.35712|0.35712	3.880000|3.880000	0.56145|0.56145	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	GCT|GGA	STK32B	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000152953		0.488	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	153	0.00	0	G	NM_018401	Missense_Mutation	5399971	5399971	+1	no_errors	ENST00000282908	ensembl	human	known	69_37n	missense	51	25.00	17	SNP	0.995	A
SYPL2	284612	genome.wustl.edu	37	1	110020512	110020512	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr1:110020512G>A	ENST00000369872.3	+	5	745	c.529G>A	c.(529-531)Gat>Aat	p.D177N	SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	177	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGCCTGACCGATGTCAAGGG	0.607																																						dbGAP											0													67.0	68.0	67.0					1																	110020512		2114	4238	6352	-	-	-	SO:0001583	missense	0			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.529G>A	1.37:g.110020512G>A	ENSP00000358888:p.Asp177Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.D177N	ENST00000369872.3	37	c.529	CCDS41365.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.634498	0.96682	.	.	ENSG00000143028	ENST00000369872	T	0.27104	1.69	5.74	5.74	0.90152	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.26430	-1.0103	10	0.59425	D	0.04	.	19.0529	0.93053	0.0:0.0:1.0:0.0	.	85;177;177	Q14DL7;Q5VXT5;Q5VXT5-2	.;SYPL2_HUMAN;.	N	177	ENSP00000358888:D177N	ENSP00000358888:D177N	D	+	1	0	SYPL2	109822035	1.000000	0.71417	0.607000	0.28956	0.935000	0.57460	9.628000	0.98415	2.873000	0.98535	0.561000	0.74099	GAT	SYPL2	-	pfam_MARVEL-like_dom	ENSG00000143028		0.607	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYPL2	HGNC	protein_coding	OTTHUMT00000030191.1	27	0.00	0	G	NM_001006603		110020512	110020512	+1	no_errors	ENST00000369872	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	1.000	A
TAF1	6872	genome.wustl.edu	37	X	70678132	70678132	+	Silent	SNP	T	T	A			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chrX:70678132T>A	ENST00000373790.4	+	35	5028	c.4977T>A	c.(4975-4977)tcT>tcA	p.S1659S	TAF1_ENST00000423759.1_Silent_p.S1682S|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Silent_p.S1680S|TAF1_ENST00000449580.1_Silent_p.S1659S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1659	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCAGTATGTCTCGAGATGCCT	0.403																																						dbGAP											0													240.0	207.0	218.0					X																	70678132		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4977T>A	X.37:g.70678132T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.L316H	ENST00000373790.4	37	c.947	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	T	8.340	0.828568	0.16749	.	.	ENSG00000147133	ENST00000437147	.	.	.	5.38	2.98	0.34508	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29027	-1.0025	4	.	.	.	.	4.2805	0.10831	0.1448:0.2958:0.0:0.5595	.	.	.	.	H	314	.	.	L	+	2	0	TAF1	70594857	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.424000	0.21330	0.323000	0.23307	-0.314000	0.08810	CTC	TAF1	-	NULL	ENSG00000147133		0.403	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	91	0.00	0	T	NM_004606		70678132	70678132	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000373775	ensembl	human	known	69_37n	missense	98	20.97	26	SNP	0.999	A
UNC13C	440279	genome.wustl.edu	37	15	54825146	54825146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0JJ-01A-11W-A071-09	TCGA-AO-A0JJ-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	812191d1-6711-4efd-8932-c76159b60ffb	a4271b11-cdc6-4a9f-a5bf-0fe7d3b3f52e	g.chr15:54825146C>T	ENST00000260323.11	+	25	5578	c.5578C>T	c.(5578-5580)Cag>Tag	p.Q1860*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q1858*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.Q1860*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1860					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGTATAAAACAGATGAGTTT	0.318																																						dbGAP											0													64.0	60.0	61.0					15																	54825146		1803	4068	5871	-	-	-	SO:0001587	stop_gained	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5578C>T	15.37:g.54825146C>T	ENSP00000260323:p.Gln1860*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Q1860*	ENST00000260323.11	37	c.5578	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008788	0.93346	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.59	5.59	0.84812	.	0.121627	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	18.5841	0.91182	0.0:1.0:0.0:0.0	.	.	.	.	X	1860;1860;1858	.	ENSP00000260323:Q1860X	Q	+	1	0	UNC13C	52612438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.620000	0.74224	2.631000	0.89168	0.561000	0.74099	CAG	UNC13C	-	NULL	ENSG00000137766		0.318	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	83	0.00	0	C	NM_173166		54825146	54825146	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	nonsense	49	31.94	23	SNP	1.000	T
