#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
MAN1B1	11253	genome.wustl.edu	37	9	140002840	140002840	+	Splice_Site	SNP	G	G	T			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr9:140002840G>T	ENST00000371589.4	+	13	1970	c.1897G>T	c.(1897-1899)Gtc>Ttc	p.V633F	MAN1B1_ENST00000474902.1_Splice_Site_p.V336F|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	633					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TGCTGCACAGGTCCCCTCGGG	0.627													ENSG00000177239																																					0													76.0	73.0	74.0					9																	140002840		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1897-1G>T	9.37:g.140002840G>T			Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.V633F	ENST00000371589.4	37	c.1897	CCDS7029.1	9	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923503	0.73213	.	.	ENSG00000177239	ENST00000371589;ENST00000474902	T;T	0.74526	-0.85;-0.85	5.44	5.44	0.79542	.	.	.	.	.	D	0.92080	0.7490	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.997;0.998	D	0.94988	0.8132	8	.	.	.	.	18.2271	0.89921	0.0:0.0:1.0:0.0	.	306;633	B3KXZ1;Q9UKM7	.;MA1B1_HUMAN	F	633;336	ENSP00000360645:V633F;ENSP00000447256:V336F	.	V	+	1	0	MAN1B1	139122661	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	9.147000	0.94646	2.561000	0.86390	0.561000	0.74099	GTC	-	MAN1B1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.627	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	0	0	0	25	25	72	0.00	0.00	G	NM_016219	Missense_Mutation	140002840	+1	8	30	10	35	tier1	no_errors	ENST00000371589	ensembl	human	known	74_37	missense	44.44	46.15	SNP	1.000	T	8	10
GATA4	2626	genome.wustl.edu	37	8	11615950	11615950	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr8:11615950T>C	ENST00000335135.4	+	7	1853	c.1295T>C	c.(1294-1296)tTg>tCg	p.L432S	GATA4_ENST00000532059.1_Missense_Mutation_p.L433S|GATA4_ENST00000528712.1_Missense_Mutation_p.L226S|C8orf49_ENST00000525043.2_5'Flank	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	432					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		AGCCTGGTCTTGGCCGACAGT	0.577													ENSG00000136574																																					0													117.0	96.0	103.0					8																	11615950		2203	4300	6503	SO:0001583	missense	0			-	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1295T>C	8.37:g.11615950T>C	ENSP00000334458:p.Leu432Ser		B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA	p.L432S	ENST00000335135.4	37	c.1295	CCDS5983.1	8	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207690	0.79240	.	.	ENSG00000136574	ENST00000528712;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D	0.99282	-5.68;-5.34;-5.35	5.18	5.18	0.71444	.	0.000000	0.51477	D	0.000100	D	0.99302	0.9756	M	0.77103	2.36	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.99056	1.0829	10	0.87932	D	0	-19.2496	14.3663	0.66807	0.0:0.0:0.0:1.0	.	433;432	B7ZKZ4;P43694	.;GATA4_HUMAN	S	226;432;431;433	ENSP00000435043:L226S;ENSP00000334458:L432S;ENSP00000435712:L433S	ENSP00000259090:L431S	L	+	2	0	GATA4	11653359	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	6.803000	0.75180	2.175000	0.68902	0.460000	0.39030	TTG	-	GATA4	-	pirsf_TF_GATA_4/5/6		0.577	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA4	HGNC	protein_coding	OTTHUMT00000207587.2	0	0	0	40	40	104	0.00	0.00	T	NM_002052		11615950	+1	19	37	25	65	tier1	no_errors	ENST00000335135	ensembl	human	known	74_37	missense	43.18	36.27	SNP	1.000	C	19	25
PSMA8	143471	genome.wustl.edu	37	18	23731924	23731924	+	Missense_Mutation	SNP	G	G	A	rs371854509		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr18:23731924G>A	ENST00000308268.6	+	3	439	c.350G>A	c.(349-351)cGc>cAc	p.R117H	PSMA8_ENST00000415576.2_Missense_Mutation_p.R111H|PSMA8_ENST00000343848.6_Missense_Mutation_p.R73H	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TACATAACTCGCTTCATAGCA	0.393													ENSG00000154611	G|||	1	0.000199681	0.0008	0.0	5008	,	,		15159	0.0		0.0	False		,,,				2504	0.0																0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	96.0	86.0	89.0		332,218,350	5.3	1.0	18		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PSMA8	NM_001025096.1,NM_001025097.1,NM_144662.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	111/251,73/213,117/257	23731924	1,13005	2203	4300	6503	SO:0001583	missense	0			-	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.350G>A	18.37:g.23731924G>A	ENSP00000311121:p.Arg117His		B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.R117H	ENST00000308268.6	37	c.350	CCDS32808.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237688	0.79800	0.0	1.16E-4	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	T;T;T	0.45668	0.89;0.89;0.89	5.34	5.34	0.76211	.	0.109676	0.64402	N	0.000005	T	0.55970	0.1954	M	0.78456	2.415	0.80722	D	1	P;D;P;B	0.53745	0.651;0.962;0.953;0.227	B;P;P;B	0.49665	0.081;0.618;0.483;0.119	T	0.62562	-0.6828	10	0.87932	D	0	-5.3374	16.5892	0.84760	0.0:0.0:1.0:0.0	.	85;117;111;73	F5GY34;Q8TAA3;Q8TAA3-5;Q8TAA3-2	.;PSA7L_HUMAN;.;.	H	117;111;73;85;73	ENSP00000311121:R117H;ENSP00000409284:R111H;ENSP00000345584:R73H	ENSP00000311121:R117H	R	+	2	0	PSMA8	21985922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.640000	0.61368	2.785000	0.95823	0.655000	0.94253	CGC	-	PSMA8	-	pfam_Proteasome_sua/b		0.393	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMA8	HGNC	protein_coding	OTTHUMT00000446255.1	0	0	0	59	59	156	0.00	0.00	G	NM_144662		23731924	+1	38	42	44	55	tier1	no_errors	ENST00000308268	ensembl	human	known	74_37	missense	46.34	43.30	SNP	1.000	A	38	44
BTBD11	121551	genome.wustl.edu	37	12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A	rs201620480		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587													ENSG00000151136																																					0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	25.0	24.0	24.0		1066,2455	5.2	1.0	12		24	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	356/642,819/1105	108013765	2,13004	2203	4300	6503	SO:0001583	missense	0			-	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2455G>A	12.37:g.108013765G>A	ENSP00000280758:p.Val819Ile		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.V819I	ENST00000280758.5	37	c.2455	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868192	0.91587	2.27E-4	1.16E-4	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.55052	0.65;0.65;0.67;0.54	5.15	5.15	0.70609	.	0.117935	0.56097	D	0.000021	T	0.72495	0.3467	M	0.70275	2.135	0.80722	D	1	D;P;D;D	0.71674	0.998;0.508;0.987;0.99	D;B;B;P	0.73708	0.981;0.073;0.403;0.496	T	0.75560	-0.3275	10	0.66056	D	0.02	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	700;356;819;819	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	819;700;819;356	ENSP00000280758:V819I;ENSP00000413889:V700I;ENSP00000447319:V819I;ENSP00000349690:V356I	ENSP00000280758:V819I	V	+	1	0	BTBD11	106537895	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.975000	0.88055	2.398000	0.81561	0.650000	0.86243	GTC	rs201620480	BTBD11	-	NULL		0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	0	0	0	20	20	74	0.00	0.00	G	NM_152322		108013765	+1	14	20	22	33	tier1	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	38.89	37.04	SNP	1.000	A	14	22
FYB	2533	genome.wustl.edu	37	5	39153561	39153561	+	Silent	SNP	C	C	T	rs115158663		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr5:39153561C>T	ENST00000351578.6	-	3	1471	c.1281G>A	c.(1279-1281)ccG>ccA	p.P427P	FYB_ENST00000505428.1_Silent_p.P427P|FYB_ENST00000512982.1_Silent_p.P427P|FYB_ENST00000540520.1_Silent_p.P437P|FYB_ENST00000515010.1_Silent_p.P427P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	427	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTAGGTCAAACGGAGGTTTAA	0.483													ENSG00000082074	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18538	0.0		0.0	False		,,,				2504	0.0																0								C	,	3,3995		0,3,1996	295.0	293.0	293.0		1281,1281	-2.4	1.0	5	dbSNP_132	293	0,8320		0,0,4160	no	coding-synonymous,coding-synonymous	FYB	NM_001465.4,NM_199335.3	,	0,3,6156	TT,TC,CC		0.0,0.075,0.0244	,	427/830,427/784	39153561	3,12315	1999	4160	6159	SO:0001819	synonymous_variant	0			GMAF=0.0005	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1281G>A	5.37:g.39153561C>T			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.P437	ENST00000351578.6	37	c.1311	CCDS47200.1	5																																																																																			rs115158663	FYB	-	NULL		0.483	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	0	0	0	81	81	105	0.00	0.00	C	NM_001465		39153561	-1	35	31	54	52	tier1	no_errors	ENST00000540520	ensembl	human	known	74_37	silent	39.33	36.90	SNP	0.790	T	35	54
PCDH12	51294	genome.wustl.edu	37	5	141334716	141334716	+	Nonsense_Mutation	SNP	G	G	A	rs142096693		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr5:141334716G>A	ENST00000231484.3	-	1	3911	c.2701C>T	c.(2701-2703)Cag>Tag	p.Q901*	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	901					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCTCTGTGGGGCTTCC	0.647													ENSG00000113555																																					0													32.0	37.0	36.0					5																	141334716		2203	4300	6503	SO:0001587	stop_gained	0			-	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2701C>T	5.37:g.141334716G>A	ENSP00000231484:p.Gln901*		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q901*	ENST00000231484.3	37	c.2701	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	G	46	12.843345	0.99700	.	.	ENSG00000113555	ENST00000231484	.	.	.	4.9	0.888	0.19206	.	1.379100	0.04361	N	0.357472	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.1948	0.31389	0.0883:0.4667:0.445:0.0	.	.	.	.	X	901	.	ENSP00000231484:Q901X	Q	-	1	0	PCDH12	141314900	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.350000	0.20079	0.047000	0.15862	0.655000	0.94253	CAG	-	PCDH12	-	NULL		0.647	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	0	0	0	59	59	25	0.00	0.00	G	NM_016580		141334716	-1	34	3	53	17	tier1	no_errors	ENST00000231484	ensembl	human	known	74_37	nonsense	39.08	15.00	SNP	0.000	A	34	53
COL4A1	1282	genome.wustl.edu	37	13	110831646	110831646	+	Silent	SNP	G	G	A	rs377593990		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr13:110831646G>A	ENST00000375820.4	-	30	2437	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	772	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGTCCGATCGCTCCAT	0.577													ENSG00000187498																																					0								G		2,4404	4.2+/-10.8	0,2,2201	88.0	93.0	91.0		2316	-7.8	0.0	13		91	0,8600		0,0,4300	no	coding-synonymous	COL4A1	NM_001845.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		772/1670	110831646	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2316C>T	13.37:g.110831646G>A			A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.I772	ENST00000375820.4	37	c.2316	CCDS9511.1	13																																																																																			-	COL4A1	-	pfam_Collagen		0.577	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	0	0	0	41	41	134	0.00	0.00	G			110831646	-1	12	50	75	83	tier1	no_errors	ENST00000375820	ensembl	human	known	74_37	silent	13.79	37.59	SNP	0.000	A	12	75
SCAF11	9169	genome.wustl.edu	37	12	46321265	46321265	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr12:46321265T>C	ENST00000369367.3	-	11	2452	c.2219A>G	c.(2218-2220)gAt>gGt	p.D740G	SCAF11_ENST00000465950.1_Missense_Mutation_p.D425G|SCAF11_ENST00000549162.1_Missense_Mutation_p.D548G|SCAF11_ENST00000419565.2_Missense_Mutation_p.D740G|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	740					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGTTTAAGATCAGCATTTAC	0.353													ENSG00000139218																																					0													133.0	128.0	130.0					12																	46321265		2203	4300	6503	SO:0001583	missense	0			-	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2219A>G	12.37:g.46321265T>C	ENSP00000358374:p.Asp740Gly		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.D740G	ENST00000369367.3	37	c.2219	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	T	13.30	2.195956	0.38806	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.49720	1.41;2.14;1.4;2.14;0.77	5.93	4.73	0.59995	.	0.259393	0.33382	N	0.004975	T	0.49762	0.1576	L	0.53249	1.67	0.28938	N	0.891168	D;P	0.56287	0.975;0.851	P;B	0.48815	0.591;0.321	T	0.54132	-0.8339	10	0.62326	D	0.03	-27.2192	11.6394	0.51224	0.0:0.0:0.1479:0.8521	.	548;740	F8VXG7;Q99590	.;SCAFB_HUMAN	G	425;740;548;740;680	ENSP00000449812:D425G;ENSP00000358374:D740G;ENSP00000448864:D548G;ENSP00000413036:D740G;ENSP00000446746:D680G	ENSP00000358374:D740G	D	-	2	0	SCAF11	44607532	0.912000	0.30974	0.897000	0.35233	0.504000	0.33889	1.236000	0.32683	2.281000	0.76405	0.533000	0.62120	GAT	-	SCAF11	-	NULL		0.353	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	0	0	0	21	21	73	0.00	0.00	T	NM_004719		46321265	-1	8	23	8	32	tier1	no_errors	ENST00000369367	ensembl	human	known	74_37	missense	50.00	41.82	SNP	0.744	C	8	8
COL4A1	1282	genome.wustl.edu	37	13	110831720	110831720	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr13:110831720G>A	ENST00000375820.4	-	30	2363	c.2242C>T	c.(2242-2244)Ccc>Tcc	p.P748S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	748	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAATGCCGGGAAGACCTGGC	0.557													ENSG00000187498																																					0													69.0	73.0	72.0					13																	110831720		2203	4300	6503	SO:0001583	missense	0			-	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2242C>T	13.37:g.110831720G>A	ENSP00000364979:p.Pro748Ser		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P748S	ENST00000375820.4	37	c.2242	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026338	0.54683	.	.	ENSG00000187498	ENST00000375820	D	0.97665	-4.48	4.7	4.7	0.59300	.	0.060648	0.64402	D	0.000003	D	0.97813	0.9282	M	0.65320	2	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.97270	0.9910	10	0.29301	T	0.29	.	18.0343	0.89294	0.0:0.0:1.0:0.0	.	748	P02462	CO4A1_HUMAN	S	748	ENSP00000364979:P748S	ENSP00000364979:P748S	P	-	1	0	COL4A1	109629721	1.000000	0.71417	0.116000	0.21606	0.008000	0.06430	5.714000	0.68422	2.328000	0.79073	0.655000	0.94253	CCC	-	COL4A1	-	pfam_Collagen		0.557	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	0	0	0	53	53	142	0.00	0.00	G			110831720	-1	20	46	56	118	tier1	no_errors	ENST00000375820	ensembl	human	known	74_37	missense	26.32	28.05	SNP	0.891	A	20	56
MIR143HG	728264	genome.wustl.edu	37	5	148810071	148810072	+	lincRNA	INS	-	-	C			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr5:148810071_148810072insC	ENST00000602964.1	+	0	16796				MIR145_ENST00000384967.1_lincRNA|MIR143_ENST00000385300.1_RNA					MIR143 host gene (non-protein coding)																		CGGTCACTACTCCCCCCCAGAG	0.599											OREG0016915	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000269936																																					0																																												0						5q32	2013-02-13			ENSG00000249669	ENSG00000249669		"""Long non-coding RNAs"""	42872	non-coding RNA	RNA, long non-coding							Standard	NR_105059		Approved				OTTHUMG00000163464		5.37:g.148810078_148810078dupC		1720		R	INS	-	NULL	ENST00000602964.1	37	NULL		5																																																																																				MIR145	-	-		0.599	MIR143HG-009	KNOWN	basic	lincRNA	MIR145	HGNC	lincRNA	OTTHUMT00000468028.1	0	0	0	8	8	120	0.00	0.00	-			148810072	+1	5	59	7	55	tier1	no_errors	ENST00000602315	ensembl	human	known	74_37	rna	41.67	51.75	INS	0.001:0.002	C	5	7
MAGEA1	4100	genome.wustl.edu	37	X	152482246	152482246	+	Silent	SNP	C	C	T			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chrX:152482246C>T	ENST00000356661.5	-	3	983	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	255	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATCACTGTCCGGCACCTGCC	0.557													ENSG00000198681																																					0													95.0	91.0	92.0					X																	152482246		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.765G>A	X.37:g.152482246C>T			B2RC81|O00346	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P255	ENST00000356661.5	37	c.765	CCDS14720.1	X																																																																																			-	MAGEA1	-	pfam_MAGE,pfscan_MAGE		0.557	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA1	HGNC	protein_coding	OTTHUMT00000060940.1	0	0	0	93	93	15	0.00	0.00	C	NM_004988		152482246	-1	47	9	76	6	tier1	no_errors	ENST00000356661	ensembl	human	known	74_37	silent	38.21	60.00	SNP	0.000	T	47	76
AGAP1	116987	genome.wustl.edu	37	2	236877223	236877223	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr2:236877223G>C	ENST00000304032.8	+	13	2181	c.1601G>C	c.(1600-1602)aGc>aCc	p.S534T	AGAP1_ENST00000428334.2_Missense_Mutation_p.S373T|AGAP1_ENST00000409538.1_Missense_Mutation_p.S746T|AGAP1_ENST00000336665.5_Missense_Mutation_p.S481T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	534	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGAAGAAAAGCACTAGCAAC	0.597													ENSG00000157985																																					0													48.0	60.0	56.0					2																	236877223		2203	4300	6503	SO:0001583	missense	0			-	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1601G>C	2.37:g.236877223G>C	ENSP00000307634:p.Ser534Thr		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.S534T	ENST00000304032.8	37	c.1601	CCDS33408.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.41|11.41	1.631222|1.631222	0.28978|0.28978	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000448025;ENST00000418654|ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T|T;T;T;T	0.60171|0.78816	0.21;2.01|-0.63;-1.21;-1.21;0.43	5.09|5.09	4.21|4.21	0.49690|0.49690	.|Pleckstrin homology domain (3);	.|0.191754	.|0.53938	.|D	.|0.000055	T|T	0.78419|0.78419	0.4280|0.4280	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|B;P	.|0.40578	.|0.447;0.722	.|B;P	.|0.45913	.|0.125;0.497	T|T	0.77070|0.77070	-0.2724|-0.2724	7|10	0.34782|0.39692	T|T	0.22|0.17	.|.	13.5513|13.5513	0.61734|0.61734	0.0752:0.0:0.9248:0.0|0.0752:0.0:0.9248:0.0	.|.	.|481;534	.|Q9UPQ3-2;Q9UPQ3	.|.;AGAP1_HUMAN	N|T	167;61|534;481;746;373	ENSP00000403482:K167N;ENSP00000393838:K61N|ENSP00000307634:S534T;ENSP00000338378:S481T;ENSP00000386897:S746T;ENSP00000411824:S373T	ENSP00000393838:K61N|ENSP00000307634:S534T	K|S	+|+	3|2	2|0	AGAP1|AGAP1	236541962|236541962	1.000000|1.000000	0.71417|0.71417	0.910000|0.910000	0.35882|0.35882	0.336000|0.336000	0.28762|0.28762	9.751000|9.751000	0.98889|0.98889	1.140000|1.140000	0.42260|0.42260	-0.145000|-0.145000	0.13849|0.13849	AAG|AGC	-	AGAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	0	0	1	55	55	30	0.00	3.03	G	NM_014914		236877223	+1	26	9	50	15	tier1	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	34.21	36.00	SNP	1.000	C	26	50
TMEM88B	643965	genome.wustl.edu	37	1	1361531	1361533	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr1:1361531_1361533delGGA	ENST00000378821.3	+	1	24_26	c.24_26delGGA	c.(22-27)acggag>acg	p.E12del		NM_001146685.1	NP_001140157.1	A6NKF7	TM88B_HUMAN	transmembrane protein 88B	12	Poly-Glu.					integral component of membrane (GO:0016021)											GGAGGGAGACGGAGGAGGAGGAG	0.7													ENSG00000205116																																					0										16,8,2634		2,0,12,2,4,1309						-1.9	0.0			23	1,9,5546		0,0,1,1,7,2769	no	codingComplex	TMEM88B	NM_001146685.1		2,0,13,3,11,4078	A1A1,A1A2,A1R,A2A2,A2R,RR		0.18,0.9029,0.4139				17,17,8180				SO:0001651	inframe_deletion	0					CCDS57964.1	1p36.33	2013-01-16			ENSG00000205116	ENSG00000205116			37099	protein-coding gene	gene with protein product							Standard	NM_001146685		Approved		uc010nyp.2	A6NKF7	OTTHUMG00000153395	ENST00000378821.3:c.24_26delGGA	1.37:g.1361540_1361542delGGA	ENSP00000455099:p.Glu12del			In_Frame_Del	DEL	NULL	p.E12in_frame_del	ENST00000378821.3	37	c.24_26	CCDS57964.1	1																																																																																				TMEM88B	-	NULL		0.700	TMEM88B-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM88B	HGNC	protein_coding	OTTHUMT00000331012.2	0	0	0	11	11	5	0.00	0.00	GGA	NM_001146685		1361533	+1	3	0	6	3	tier1	no_errors	ENST00000378821	ensembl	human	novel	74_37	in_frame_del	33.33	0.00	DEL	0.001:0.809:0.920	-	3	6
PCDHB3	56132	genome.wustl.edu	37	5	140482187	140482187	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr5:140482187C>T	ENST00000231130.2	+	1	1954	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCCTCCGCGCTCGGCCAC	0.711													ENSG00000113205																																					0													20.0	24.0	23.0					5																	140482187		2031	3972	6003	SO:0001583	missense	0			-	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1954C>T	5.37:g.140482187C>T	ENSP00000231130:p.Arg652Cys		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R652C	ENST00000231130.2	37	c.1954	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168849	0.21621	.	.	ENSG00000113205	ENST00000231130	T	0.55234	0.53	4.38	3.47	0.39725	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56292	0.1975	M	0.78801	2.425	0.44432	D	0.997357	B	0.22800	0.075	B	0.27715	0.082	T	0.59423	-0.7457	9	0.66056	D	0.02	.	13.5398	0.61668	0.1686:0.8314:0.0:0.0	.	652	Q9Y5E6	PCDB3_HUMAN	C	652	ENSP00000231130:R652C	ENSP00000231130:R652C	R	+	1	0	PCDHB3	140462371	0.003000	0.15002	0.227000	0.23927	0.089000	0.18198	2.015000	0.40961	0.875000	0.35847	0.556000	0.70494	CGC	-	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	0	0	0	65	65	0	0.00	0.00	C	NM_018937		140482187	+1	23	0	40	1	tier1	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	36.51	0.00	SNP	0.752	T	23	40
BPTF	2186	genome.wustl.edu	37	17	65955758	65955759	+	In_Frame_Ins	INS	-	-	CCTCCAGCC	rs139709271|rs202116659		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr17:65955758_65955759insCCTCCAGCC	ENST00000321892.4	+	26	8467_8468	c.8406_8407insCCTCCAGCC	c.(8407-8409)cct>CCTCCAGCCcct	p.2803_2803P>PPAP	BPTF_ENST00000335221.5_In_Frame_Ins_p.2660_2660P>PPAP|BPTF_ENST00000306378.6_In_Frame_Ins_p.2677_2677P>PPAP|BPTF_ENST00000424123.3_In_Frame_Ins_p.2521_2521P>PPAP			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2803	Pro-rich.			AP -> VL (in Ref. 1; BAA89208). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A2676A(1)|p.A2659A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGACAccagctcctccagcccc	0.579													ENSG00000171634																																					2	Substitution - coding silent(2)	large_intestine(2)																																								SO:0001652	inframe_insertion	0				AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8416_8424dupCCTCCAGCC	17.37:g.65955759_65955767dupCCTCCAGCC	ENSP00000315454:p.ProAlaPro2809dup		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Ins	INS	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.2806in_frame_insPAP	ENST00000321892.4	37	c.8406_8407		17																																																																																				BPTF	-	superfamily_Bromodomain,superfamily_Adenylate_cyclase-assoc_CAP_N		0.579	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		0	0	0	40	40	40	0.00	0.00	-	NM_182641, NM_004459		65955759	+1	2	2	25	25	tier1	no_errors	ENST00000321892	ensembl	human	known	74_37	in_frame_ins	7.41	7.41	INS	0.001:0.001	CCTCCAGCC	2	25
