#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
AADAC	13	genome.wustl.edu	37	3	151535239	151535239	+	Nonsense_Mutation	SNP	C	C	A	rs150521396		TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr3:151535239C>A	ENST00000232892.7	+	2	350	c.224C>A	c.(223-225)tCa>tAa	p.S75*	AADAC_ENST00000488869.1_Nonsense_Mutation_p.S75*|RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	75					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S75L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCACCAACCTCAGATGAAAAT	0.413																																					Ovarian(30;839 841 2699 32801 46334)	dbGAP											1	Substitution - Missense(1)	lung(1)											88.0	83.0	85.0					3																	151535239		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.224C>A	3.37:g.151535239C>A	ENSP00000232892:p.Ser75*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3L3|D3DNJ6|Q8N1A9	Nonsense_Mutation	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase	p.S75*	ENST00000232892.7	37	c.224	CCDS33877.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.508490	0.97624	.	.	ENSG00000114771	ENST00000232892;ENST00000488869	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7094	18.1908	0.89806	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000232892:S75X	S	+	2	0	AADAC	153017929	0.992000	0.36948	0.865000	0.33974	0.980000	0.70556	5.135000	0.64777	2.289000	0.77006	0.591000	0.81541	TCA	AADAC	-	pirsf_Arylacetamide_deacetylase	ENSG00000114771		0.413	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADAC	HGNC	protein_coding	OTTHUMT00000357883.2	162	0.00	0	C	NM_001086		151535239	151535239	+1	no_errors	ENST00000232892	ensembl	human	known	69_37n	nonsense	143	32.23	68	SNP	0.994	A
ADAM21	8747	genome.wustl.edu	37	14	70924450	70924450	+	Silent	SNP	C	C	T	rs58247196		TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr14:70924450C>T	ENST00000603540.1	+	2	492	c.234C>T	c.(232-234)gtC>gtT	p.V78V	ADAM21_ENST00000267499.3_Silent_p.V78V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	78					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATATGAGGGTCAAGAAGCTCT	0.512																																						dbGAP											0													105.0	108.0	107.0					14																	70924450		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.234C>T	14.37:g.70924450C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43507|Q2VPC6|Q32MR0	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V78	ENST00000603540.1	37	c.234	CCDS9804.1	14																																																																																			ADAM21	-	pfam_Peptidase_M12B_N	ENSG00000139985		0.512	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	127	0.78	1	C			70924450	70924450	+1	no_errors	ENST00000267499	ensembl	human	known	69_37n	silent	118	15.11	21	SNP	0.170	T
AKR7L	246181	genome.wustl.edu	37	1	19595111	19595111	+	RNA	SNP	C	C	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr1:19595111C>T	ENST00000429712.1	-	0	908				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGCCGAGGTCATGCTGGGAG	0.632																																						dbGAP											0													84.0	78.0	80.0					1																	19595111		2203	4300	6503	-	-	-			0					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595111C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U614	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.M85I	ENST00000429712.1	37	c.255		1	.	.	.	.	.	.	.	.	.	.	C	7.471	0.646759	0.14516	.	.	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	T	0.03982	3.74	3.73	1.82	0.25136	NADP-dependent oxidoreductase domain (3);	0.235594	0.45867	D	0.000326	T	0.03136	0.0092	.	.	.	0.23445	N	0.997663	B	0.10296	0.003	B	0.17433	0.018	T	0.46748	-0.9169	9	0.18710	T	0.47	.	8.6642	0.34110	0.0:0.8037:0.0:0.1963	.	263	Q8NHP1	ARK74_HUMAN	I	85;153;263;228	ENSP00000406430:M85I	ENSP00000373538:M228I	M	-	3	0	AKR7L	19467698	1.000000	0.71417	0.921000	0.36526	0.009000	0.06853	1.570000	0.36439	0.367000	0.24454	-0.368000	0.07277	ATG	AKR7L	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000211454		0.632	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	AKR7L	HGNC	polymorphic_pseudogene	OTTHUMT00000007163.3	49	0.00	0	C	NM_201252		19595111	19595111	-1	no_errors	ENST00000420396	ensembl	human	known	69_37n	missense	33	55.41	41	SNP	1.000	T
AQP3	360	genome.wustl.edu	37	9	33443389	33443389	+	Silent	SNP	C	C	G			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr9:33443389C>G	ENST00000297991.4	-	3	383	c.303G>C	c.(301-303)ctG>ctC	p.L101L	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	101					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		TGTAGATGGGCAGCTTGATCC	0.587																																						dbGAP											0													62.0	50.0	54.0					9																	33443389		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.303G>C	9.37:g.33443389C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_Aquaporin	p.L101	ENST00000297991.4	37	c.303	CCDS6542.1	9																																																																																			AQP3	-	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_Aquaporin	ENSG00000165272		0.587	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	AQP3	HGNC	protein_coding	OTTHUMT00000052055.1	105	0.00	0	C	NM_004925		33443389	33443389	-1	no_errors	ENST00000297991	ensembl	human	known	69_37n	silent	117	28.66	47	SNP	0.991	G
ASB15	142685	genome.wustl.edu	37	7	123269363	123269363	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr7:123269363G>A	ENST00000451558.1	+	12	1836	c.1315G>A	c.(1315-1317)Ggc>Agc	p.G439S	ASB15_ENST00000540573.1_Missense_Mutation_p.G439S|ASB15_ENST00000434204.1_Missense_Mutation_p.G439S|ASB15_ENST00000275699.3_Missense_Mutation_p.G439S|ASB15_ENST00000451215.1_Missense_Mutation_p.G439S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	439					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GCTGAATAATGGCTATCAAGT	0.428																																						dbGAP											0													202.0	185.0	191.0					7																	123269363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1315G>A	7.37:g.123269363G>A	ENSP00000397655:p.Gly439Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.G439S	ENST00000451558.1	37	c.1315	CCDS34742.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.512508	0.96402	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	6.17	6.17	0.99709	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88450	0.3048	10	0.87932	D	0	-5.3833	20.8794	0.99867	0.0:0.0:1.0:0.0	.	439	Q8WXK1	ASB15_HUMAN	S	439;439;439;439;228;439	ENSP00000397655:G439S;ENSP00000390963:G439S;ENSP00000416433:G439S;ENSP00000438643:G439S;ENSP00000275699:G439S	ENSP00000275699:G439S	G	+	1	0	ASB15	123056599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GGC	ASB15	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000146809		0.428	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	185	0.00	0	G			123269363	123269363	+1	no_errors	ENST00000275699	ensembl	human	known	69_37n	missense	216	11.48	28	SNP	1.000	A
ATP11A	23250	genome.wustl.edu	37	13	113474225	113474225	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr13:113474225G>A	ENST00000487903.1	+	8	774	c.686G>A	c.(685-687)cGc>cAc	p.R229H	ATP11A_ENST00000375630.2_Missense_Mutation_p.R229H|ATP11A_ENST00000283558.8_Missense_Mutation_p.R229H|ATP11A_ENST00000375645.3_Missense_Mutation_p.R229H			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	229					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R229L(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTCGTGGGTCGCATCAACGTT	0.622																																						dbGAP											2	Substitution - Missense(2)	central_nervous_system(2)											131.0	93.0	106.0					13																	113474225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.686G>A	13.37:g.113474225G>A	ENSP00000420387:p.Arg229His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R229H	ENST00000487903.1	37	c.686	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.471766|3.471766	0.63737|0.63737	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93	4.87|4.87	4.87|4.87	0.63330|0.63330	.|ATPase, P-type, ATPase-associated domain (1);	.|0.110716	.|0.64402	.|D	.|0.000008	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.998	.|D;D;D	.|0.76575	.|0.988;0.988;0.977	T|T	0.71137|0.71137	-0.4680|-0.4680	5|10	.|0.66056	.|D	.|0.02	.|.	13.8794|13.8794	0.63674|0.63674	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|229;229;229	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	T|H	204|229	.|ENSP00000420387:R229H;ENSP00000364781:R229H;ENSP00000364796:R229H;ENSP00000283558:R229H	.|ENSP00000283558:R229H	A|R	+|+	1|2	0|0	ATP11A|ATP11A	112522226|112522226	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.007000|0.007000	0.05969|0.05969	6.506000|6.506000	0.73712|0.73712	2.406000|2.406000	0.81754|0.81754	0.591000|0.591000	0.81541|0.81541	GCA|CGC	ATP11A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000068650		0.622	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	92	0.00	0	G	NM_015205		113474225	113474225	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	missense	56	56.25	72	SNP	1.000	A
CRLF3	51379	genome.wustl.edu	37	17	29123274	29123274	+	Silent	SNP	G	G	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr17:29123274G>A	ENST00000324238.6	-	4	631	c.507C>T	c.(505-507)gaC>gaT	p.D169D	CRLF3_ENST00000544695.1_Silent_p.D53D|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	169					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TAAAAATGTGGTCTTTCACTA	0.408																																					Pancreas(30;346 881 29244 33464 41299)	dbGAP											0													122.0	100.0	108.0					17																	29123274		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.507C>T	17.37:g.29123274G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Silent	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D169	ENST00000324238.6	37	c.507	CCDS32607.1	17																																																																																			CRLF3	-	NULL	ENSG00000176390		0.408	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF3	HGNC	protein_coding	OTTHUMT00000444354.1	167	0.00	0	G			29123274	29123274	-1	no_errors	ENST00000324238	ensembl	human	known	69_37n	silent	79	57.07	105	SNP	1.000	A
CXorf57	55086	genome.wustl.edu	37	X	105905447	105905447	+	Silent	SNP	G	G	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chrX:105905447G>A	ENST00000372548.4	+	12	2290	c.2181G>A	c.(2179-2181)gcG>gcA	p.A727A	CXorf57_ENST00000372544.2_Silent_p.A630A|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	727							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCAGCCTGCGAAATATGTAC	0.413																																						dbGAP											0													75.0	72.0	73.0					X																	105905447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.2181G>A	X.37:g.105905447G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.A727	ENST00000372548.4	37	c.2181	CCDS14519.1	X																																																																																			CXorf57	-	NULL	ENSG00000147231		0.413	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	128	0.00	0	G	NM_018015		105905447	105905447	+1	no_errors	ENST00000372548	ensembl	human	known	69_37n	silent	111	32.32	53	SNP	0.707	A
DGKB	1607	genome.wustl.edu	37	7	14797340	14797340	+	Silent	SNP	T	T	C			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr7:14797340T>C	ENST00000403951.2	-	3	506	c.87A>G	c.(85-87)ttA>ttG	p.L29L	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.L29L|DGKB_ENST00000444700.2_Silent_p.L29L|DGKB_ENST00000402815.1_Silent_p.L29L|DGKB_ENST00000399322.3_Silent_p.L29L|DGKB_ENST00000406247.3_Silent_p.L29L|DGKB_ENST00000258767.5_Silent_p.L29L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	29					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GAACATCCTTTAATTTCTTTG	0.328																																						dbGAP											0													62.0	61.0	61.0					7																	14797340		1803	4062	5865	-	-	-	SO:0001819	synonymous_variant	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.87A>G	7.37:g.14797340T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L29	ENST00000403951.2	37	c.87	CCDS47547.1	7																																																																																			DGKB	-	NULL	ENSG00000136267		0.328	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	144	0.00	0	T	NM_004080		14797340	14797340	-1	no_errors	ENST00000258767	ensembl	human	known	69_37n	silent	99	25.56	34	SNP	1.000	C
ERCC6L	54821	genome.wustl.edu	37	X	71425081	71425081	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chrX:71425081G>T	ENST00000334463.3	-	2	3671	c.3536C>A	c.(3535-3537)cCt>cAt	p.P1179H	ERCC6L_ENST00000373657.1_Missense_Mutation_p.P1056H|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1179					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACCAGACAAAGGCTCAGGGGC	0.483																																						dbGAP											0													89.0	79.0	83.0					X																	71425081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3536C>A	X.37:g.71425081G>T	ENSP00000334675:p.Pro1179His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1179H	ENST00000334463.3	37	c.3536	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756714	0.49362	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91124	-2.76;-2.79	5.49	4.59	0.56863	.	.	.	.	.	D	0.88093	0.6344	L	0.60455	1.87	0.09310	N	1	P	0.50710	0.938	B	0.43916	0.436	T	0.82204	-0.0573	9	0.59425	D	0.04	-5.8231	6.3495	0.21367	0.0959:0.0:0.7211:0.183	.	1179	Q2NKX8	ERC6L_HUMAN	H	1056;1179	ENSP00000362761:P1056H;ENSP00000334675:P1179H	ENSP00000334675:P1179H	P	-	2	0	ERCC6L	71341806	0.935000	0.31712	0.041000	0.18516	0.067000	0.16453	3.193000	0.50997	2.292000	0.77174	0.544000	0.68410	CCT	ERCC6L	-	NULL	ENSG00000186871		0.483	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	228	0.00	0	G	NM_017669		71425081	71425081	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	missense	195	32.29	93	SNP	0.007	T
FAT2	2196	genome.wustl.edu	37	5	150946518	150946518	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr5:150946518C>A	ENST00000261800.5	-	1	1987	c.1975G>T	c.(1975-1977)Gtg>Ttg	p.V659L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	659	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCCTTCACCACAGTAATA	0.413																																						dbGAP											0													98.0	95.0	96.0					5																	150946518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1975G>T	5.37:g.150946518C>A	ENSP00000261800:p.Val659Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V659L	ENST00000261800.5	37	c.1975	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716784	0.30413	.	.	ENSG00000086570	ENST00000261800	T	0.39229	1.09	5.57	5.57	0.84162	Cadherin (3);Cadherin-like (1);	0.100557	0.43579	D	0.000549	T	0.30823	0.0777	L	0.28192	0.835	0.39456	D	0.967493	B	0.19073	0.033	B	0.27608	0.081	T	0.11665	-1.0578	10	0.13853	T	0.58	.	13.1637	0.59558	0.0:0.9268:0.0:0.0732	.	659	Q9NYQ8	FAT2_HUMAN	L	659	ENSP00000261800:V659L	ENSP00000261800:V659L	V	-	1	0	FAT2	150926711	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	4.277000	0.58939	2.785000	0.95823	0.655000	0.94253	GTG	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	167	0.00	0	C	NM_001447		150946518	150946518	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	208	29.77	89	SNP	1.000	A
HIST1H2AE	3012	genome.wustl.edu	37	6	26217379	26217379	+	Silent	SNP	G	G	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr6:26217379G>T	ENST00000303910.2	+	1	215	c.177G>T	c.(175-177)ctG>ctT	p.L59L	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TGGAATATCTGACGGCCGAGA	0.627																																						dbGAP											0													51.0	52.0	52.0					6																	26217379		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.177G>T	6.37:g.26217379G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P28001|Q76P63	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L59	ENST00000303910.2	37	c.177	CCDS4595.1	6																																																																																			HIST1H2AE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000168274		0.627	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1	61	0.00	0	G	NM_021052		26217379	26217379	+1	no_errors	ENST00000303910	ensembl	human	known	69_37n	silent	88	14.56	15	SNP	1.000	T
HOOK2	29911	genome.wustl.edu	37	19	12876942	12876942	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr19:12876942G>A	ENST00000397668.3	-	15	1559	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.R496C	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	496	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AACCCGTGGCGCGCGCGGTTG	0.711											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													15.0	19.0	18.0					19																	12876942		1977	4142	6119	-	-	-	SO:0001583	missense	0			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1486C>T	19.37:g.12876942G>A	ENSP00000380785:p.Arg496Cys	Somatic	683	WXS	Illumina GAIIx	Phase_IV	O60562	Missense_Mutation	SNP	pfam_HOOK,superfamily_UBA-like	p.R496C	ENST00000397668.3	37	c.1486	CCDS42508.1	19	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506456	0.64410	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.18174	2.23;2.23	5.04	2.66	0.31614	.	0.329441	0.28659	N	0.014569	T	0.24314	0.0589	L	0.35487	1.065	0.38889	D	0.95706	D;D	0.76494	0.999;0.999	P;P	0.62885	0.851;0.908	T	0.02104	-1.1213	10	0.36615	T	0.2	-15.1885	11.5183	0.50536	0.0:0.0:0.6467:0.3533	.	496;496	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	C	496	ENSP00000380785:R496C;ENSP00000264827:R496C	ENSP00000264827:R496C	R	-	1	0	HOOK2	12737942	0.939000	0.31865	0.953000	0.39169	0.786000	0.44442	1.396000	0.34531	2.316000	0.78162	0.467000	0.42956	CGC	HOOK2	-	pfam_HOOK	ENSG00000095066		0.711	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	13	0.00	0	G	NM_013312		12876942	12876942	-1	no_errors	ENST00000397668	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.642	A
HRSP12	10247	genome.wustl.edu	37	8	99118536	99118536	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr8:99118536C>T	ENST00000254878.3	-	3	334	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	64					regulation of translational termination (GO:0006449)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deaminase activity (GO:0019239)|endonuclease activity (GO:0004519)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTCAGAATTTCACCCATGTTT	0.313																																						dbGAP											0													106.0	109.0	108.0					8																	99118536		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008418	CCDS6276.1	8q22	2014-05-09			ENSG00000132541	ENSG00000132541			16897	protein-coding gene	gene with protein product	"""translational inhibitor p14.5"""	602487				8973653, 9405234, 20817725	Standard	NM_005836		Approved	UK114, P14.5, PSP	uc003yii.1	P52758	OTTHUMG00000164670	ENST00000254878.3:c.190G>A	8.37:g.99118536C>T	ENSP00000254878:p.Glu64Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHU9|Q6IBG0	Missense_Mutation	SNP	pfam_YjgF/Yer057p/UK114,superfamily_Endoribo_LPSP/chorism_mut-like,tigrfam_YjgF-like	p.E64K	ENST00000254878.3	37	c.190	CCDS6276.1	8	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880635	0.72294	.	.	ENSG00000132541	ENST00000254878;ENST00000520989	.	.	.	5.82	5.82	0.92795	Endoribonuclease L-PSP/chorismate mutase-like (2);	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.48260	1.515	0.58432	D	0.999997	B	0.27166	0.17	B	0.26202	0.067	T	0.57493	-0.7802	9	0.59425	D	0.04	.	17.0097	0.86403	0.0:1.0:0.0:0.0	.	64	P52758	UK114_HUMAN	K	64	.	ENSP00000254878:E64K	E	-	1	0	HRSP12	99187712	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.403000	0.73264	2.756000	0.94617	0.561000	0.74099	GAA	HRSP12	-	pfam_YjgF/Yer057p/UK114,superfamily_Endoribo_LPSP/chorism_mut-like,tigrfam_YjgF-like	ENSG00000132541		0.313	HRSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRSP12	HGNC	protein_coding	OTTHUMT00000379687.1	143	0.00	0	C	NM_005836		99118536	99118536	-1	no_errors	ENST00000254878	ensembl	human	known	69_37n	missense	80	57.14	108	SNP	1.000	T
KRI1	65095	genome.wustl.edu	37	19	10670170	10670170	+	Silent	SNP	C	C	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr19:10670170C>T	ENST00000312962.6	-	12	1096	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	KRI1_ENST00000361821.5_Silent_p.L355L|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	353	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCAGGTTCTTCAGCTGCTTGA	0.602																																						dbGAP											0													109.0	98.0	102.0					19																	10670170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1077G>A	19.37:g.10670170C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	pfam_KRR1-interact_protein_1	p.L359	ENST00000312962.6	37	c.1077	CCDS12242.1	19																																																																																			KRI1	-	NULL	ENSG00000129347		0.602	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000317705.1	110	0.00	0	C	NM_023008		10670170	10670170	-1	no_errors	ENST00000312962	ensembl	human	known	69_37n	silent	189	12.50	27	SNP	0.997	T
LAMA2	3908	genome.wustl.edu	37	6	129609065	129609065	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr6:129609065C>A	ENST00000421865.2	+	19	2660	c.2611C>A	c.(2611-2613)Ctt>Att	p.L871I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	871	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAATGACAACCTTGACTTCTC	0.502																																						dbGAP											0													288.0	239.0	255.0					6																	129609065		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2611C>A	6.37:g.129609065C>A	ENSP00000400365:p.Leu871Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L871I	ENST00000421865.2	37	c.2611	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575732	0.65878	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61040	0.14	5.93	5.93	0.95920	EGF-like, laminin (3);	0.000000	0.64402	D	0.000002	T	0.22589	0.0545	N	0.00162	-1.95	0.50313	D	0.999862	D;D	0.69078	0.992;0.997	D;D	0.70227	0.95;0.968	T	0.53760	-0.8393	10	0.07644	T	0.81	.	15.7867	0.78310	0.0:0.8646:0.1354:0.0	.	871;871	A6NF00;P24043	.;LAMA2_HUMAN	I	871	ENSP00000400365:L871I	ENSP00000346769:L871I	L	+	1	0	LAMA2	129650758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.798000	0.96311	0.655000	0.94253	CTT	LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000196569		0.502	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	191	0.00	0	C			129609065	129609065	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	241	10.74	29	SNP	1.000	A
LAMB4	22798	genome.wustl.edu	37	7	107710329	107710329	+	Splice_Site	SNP	A	A	C			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr7:107710329A>C	ENST00000388781.3	-	18	2209	c.2126T>G	c.(2125-2127)cTt>cGt	p.L709R	LAMB4_ENST00000205386.4_Splice_Site_p.L709R|LAMB4_ENST00000388780.3_Splice_Site_p.L709R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	709	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AATAAGGCCAAGCTTTTGAAA	0.343																																						dbGAP											0													77.0	77.0	77.0					7																	107710329		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2125-1T>G	7.37:g.107710329A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L709R	ENST00000388781.3	37	c.2126	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132278	0.77662	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.46819	0.86;0.86;0.89	4.93	4.93	0.64822	Laminin IV (1);	0.000000	0.46758	D	0.000268	T	0.65133	0.2662	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.69617	-0.5097	10	0.87932	D	0	.	14.7458	0.69490	1.0:0.0:0.0:0.0	.	709	A4D0S4	LAMB4_HUMAN	R	709	ENSP00000205386:L709R;ENSP00000373433:L709R;ENSP00000373432:L709R	ENSP00000205386:L709R	L	-	2	0	LAMB4	107497565	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.269000	0.72558	2.069000	0.61940	0.459000	0.35465	CTT	LAMB4	-	pfscan_Laminin_IV	ENSG00000091128		0.343	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	67	0.00	0	A	XM_209857	Missense_Mutation	107710329	107710329	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	missense	68	31.00	31	SNP	1.000	C
MUC2	4583	genome.wustl.edu	37	11	1101591	1101591	+	Missense_Mutation	SNP	C	C	T	rs371632572		TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr11:1101591C>T	ENST00000441003.2	+	42	7631	c.7604C>T	c.(7603-7605)tCc>tTc	p.S2535F		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4897					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGAAGCCCTCCGTGTGCCCG	0.637																																						dbGAP											0													92.0	105.0	101.0					11																	1101591		2090	4207	6297	-	-	-	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7604C>T	11.37:g.1101591C>T	ENSP00000415183:p.Ser2535Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S2535F	ENST00000441003.2	37	c.7604		11	.	.	.	.	.	.	.	.	.	.	C	8.142	0.785488	0.16189	.	.	ENSG00000198788	ENST00000441003	T	0.12569	2.67	3.62	2.64	0.31445	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	P	0.39576	0.679	B	0.35353	0.201	T	0.25916	-1.0118	9	0.56958	D	0.05	.	11.8289	0.52283	0.0:0.8221:0.1779:0.0	.	2535	E7EUV1	.	F	2535	ENSP00000415183:S2535F	ENSP00000415183:S2535F	S	+	2	0	MUC2	1091591	0.002000	0.14202	0.002000	0.10522	0.010000	0.07245	1.320000	0.33666	1.553000	0.49476	0.491000	0.48974	TCC	MUC2	-	NULL	ENSG00000198788		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	95	0.00	0	C	NM_002457		1101591	1101591	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	66	56.58	86	SNP	0.011	T
NEK3	4752	genome.wustl.edu	37	13	52707946	52707946	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr13:52707946C>T	ENST00000400357.2	-	13	2557	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	NEK3_ENST00000339406.3_Missense_Mutation_p.E439K|NEK3_ENST00000378101.2_Missense_Mutation_p.E439K|NEK3_ENST00000452082.2_Missense_Mutation_p.E443K			P51956	NEK3_HUMAN	NIMA-related kinase 3	439					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		AAGAACCCTTCTGAACCTTCA	0.418																																						dbGAP											0													33.0	31.0	32.0					13																	52707946		1846	4096	5942	-	-	-	SO:0001583	missense	0			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1264G>A	13.37:g.52707946C>T	ENSP00000383210:p.Glu422Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E443K	ENST00000400357.2	37	c.1327	CCDS53871.1	13	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686757	0.48097	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.99	4.14	0.48551	.	0.711522	0.13990	N	0.348896	T	0.33933	0.0880	L	0.59436	1.845	0.27765	N	0.943683	P;B;B	0.38300	0.626;0.265;0.383	B;B;B	0.34991	0.193;0.126;0.167	T	0.11446	-1.0587	10	0.23302	T	0.38	.	13.6713	0.62427	0.0:0.8447:0.1553:0.0	.	439;443;416	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	K	439;439;422;443;416	ENSP00000339429:E439K;ENSP00000367341:E439K;ENSP00000383210:E422K;ENSP00000404197:E443K;ENSP00000448716:E416K	ENSP00000339429:E439K	E	-	1	0	NEK3	51605947	0.093000	0.21703	0.957000	0.39632	0.257000	0.26127	3.137000	0.50562	1.194000	0.43101	0.467000	0.42956	GAA	NEK3	-	NULL	ENSG00000136098		0.418	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NEK3	HGNC	protein_coding	OTTHUMT00000045047.3	73	0.00	0	C			52707946	52707946	-1	no_errors	ENST00000452082	ensembl	human	known	69_37n	missense	68	12.82	10	SNP	0.685	T
PCDH7	5099	genome.wustl.edu	37	4	30921826	30921826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr4:30921826C>T	ENST00000543491.1	+	2	3226	c.3226C>T	c.(3226-3228)Cag>Tag	p.Q1076*	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGACCCACATCAGGGGTCACT	0.493																																						dbGAP											0													86.0	91.0	89.0					4																	30921826		2088	4220	6308	-	-	-	SO:0001587	stop_gained	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3226C>T	4.37:g.30921826C>T	ENSP00000441802:p.Gln1076*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60246|O60247|Q4W5C4	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1076*	ENST00000543491.1	37	c.3226	CCDS54753.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.543477|10.543477	0.99424|0.99424	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000543491;ENST00000333135|ENST00000511884	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80352	.|0.4607	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77869	.|-0.2427	.|3	0.72032|.	D|.	0.01|.	.|.	20.2789|20.2789	0.98501|0.98501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1076;1029|765	.|.	ENSP00000330302:Q1029X|.	Q|S	+|+	1|2	0|0	PCDH7|PCDH7	30530924|30530924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CAG|TCA	PCDH7	-	NULL	ENSG00000169851		0.493	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH7	HGNC	protein_coding		93	0.00	0	C	NM_032457, NM_002589		30921826	30921826	+1	no_errors	ENST00000543491	ensembl	human	known	69_37n	nonsense	110	15.38	20	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	94	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	97	34.01	50	SNP	1.000	G
PIWIL1	9271	genome.wustl.edu	37	12	130834441	130834441	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr12:130834441G>A	ENST00000245255.3	+	9	1245	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	325	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TATTGACTGGGACCAGAATCC	0.403																																						dbGAP											0													96.0	96.0	96.0					12																	130834441		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.973G>A	12.37:g.130834441G>A	ENSP00000245255:p.Asp325Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.D325N	ENST00000245255.3	37	c.973	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315911	0.40996	.	.	ENSG00000125207	ENST00000245255	T	0.14516	2.5	5.57	5.57	0.84162	Argonaute/Dicer protein, PAZ (4);	0.140489	0.64402	D	0.000006	T	0.15739	0.0379	L	0.43554	1.36	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.20577	0.03;0.013	T	0.04885	-1.0920	10	0.26408	T	0.33	-14.6954	18.5299	0.90987	0.0:0.0:1.0:0.0	.	325;325	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	325	ENSP00000245255:D325N	ENSP00000245255:D325N	D	+	1	0	PIWIL1	129400394	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	5.227000	0.65305	2.608000	0.88229	0.563000	0.77884	GAC	PIWIL1	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000125207		0.403	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	80	0.00	0	G			130834441	130834441	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	missense	140	28.21	55	SNP	1.000	A
POTED	317754	genome.wustl.edu	37	21	15011930	15011930	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr21:15011930G>C	ENST00000299443.5	+	10	1556	c.1504G>C	c.(1504-1506)Gaa>Caa	p.E502Q		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	502						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AAAGCAGATAGAAGTGGCTGA	0.303																																						dbGAP											0													4.0	5.0	5.0					21																	15011930		759	2695	3454	-	-	-	SO:0001583	missense	0			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1504G>C	21.37:g.15011930G>C	ENSP00000299443:p.Glu502Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCF7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E502Q	ENST00000299443.5	37	c.1504	CCDS13562.1	21	.	.	.	.	.	.	.	.	.	.	G	7.970	0.748818	0.15710	.	.	ENSG00000166351	ENST00000299443	T	0.33216	1.42	1.86	1.86	0.25419	.	.	.	.	.	T	0.44561	0.1299	M	0.66297	2.02	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.15492	-1.0435	9	0.52906	T	0.07	.	7.264	0.26219	0.0:0.0:1.0:0.0	.	502	Q86YR6	POTED_HUMAN	Q	502	ENSP00000299443:E502Q	ENSP00000299443:E502Q	E	+	1	0	POTED	13933801	0.690000	0.27699	0.013000	0.15412	0.015000	0.08874	1.323000	0.33701	1.074000	0.40909	0.420000	0.28162	GAA	POTED	-	NULL	ENSG00000166351		0.303	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	HGNC	protein_coding	OTTHUMT00000157660.1	212	0.00	0	G	NM_174981		15011930	15011930	+1	no_errors	ENST00000299443	ensembl	human	known	69_37n	missense	190	39.68	125	SNP	0.018	C
POU6F2	11281	genome.wustl.edu	37	7	39500226	39500226	+	Missense_Mutation	SNP	C	C	T	rs368700023		TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr7:39500226C>T	ENST00000403058.1	+	10	1637	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	POU6F2_ENST00000518318.2_Missense_Mutation_p.R495C|POU6F2_ENST00000559001.1_Missense_Mutation_p.R440C	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	495	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TAAAATCCGGCGCCTGTCCCT	0.567																																						dbGAP											0													44.0	39.0	41.0					7																	39500226		2203	4300	6503	-	-	-	SO:0001583	missense	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1483C>T	7.37:g.39500226C>T	ENSP00000384004:p.Arg495Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.R495C	ENST00000403058.1	37	c.1483	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470449	0.63625	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.90197	-2.63;-2.63	5.48	5.48	0.80851	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96702	0.9519	10	0.87932	D	0	.	19.3555	0.94410	0.0:1.0:0.0:0.0	.	495	P78424	PO6F2_HUMAN	C	495	ENSP00000384004:R495C;ENSP00000430514:R495C	ENSP00000384004:R495C	R	+	1	0	POU6F2	39466751	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.805000	0.86005	2.572000	0.86782	0.511000	0.50034	CGC	POU6F2	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU	ENSG00000106536		0.567	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	51	0.00	0	C	NM_007252		39500226	39500226	+1	no_errors	ENST00000403058	ensembl	human	known	69_37n	missense	60	31.03	27	SNP	1.000	T
ARHGAP8	23779	genome.wustl.edu	37	22	45204250	45204250	+	Silent	SNP	C	C	T	rs571482121		TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr22:45204250C>T	ENST00000389774.2	+	4	372	c.231C>T	c.(229-231)taC>taT	p.Y77Y	PRR5-ARHGAP8_ENST00000361473.5_Silent_p.Y208Y|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000336963.4_Silent_p.Y77Y|ARHGAP8_ENST00000389773.5_Silent_p.Y199Y|ARHGAP8_ENST00000356099.6_Silent_p.Y77Y|ARHGAP8_ENST00000517296.3_Intron	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	77	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		ATTTCCACTACGGGCTGAACA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18808	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													76.0	70.0	72.0					22																	45204250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.231C>T	22.37:g.45204250C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom	p.T131M	ENST00000389774.2	37	c.392	CCDS33664.1	22	.	.	.	.	.	.	.	.	.	.	C	4.595	0.110483	0.08780	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.43	-1.68	0.08212	.	.	.	.	.	T	0.55178	0.1904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52026	-0.8630	4	.	.	.	.	9.8183	0.40867	0.0:0.3702:0.0:0.6298	.	.	.	.	M	131	.	.	T	+	2	0	PRR5-ARHGAP8	43582914	0.045000	0.20229	0.929000	0.37066	0.382000	0.30200	-0.727000	0.04931	-0.097000	0.12307	0.655000	0.94253	ACG	PRR5-ARHGAP8	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000248405		0.502	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRR5-ARHGAP8	HGNC	protein_coding	OTTHUMT00000075088.4	88	0.00	0	C	NM_017701		45204250	45204250	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000515632	ensembl	human	putative	69_37n	missense	131	10.27	15	SNP	0.996	T
PSMG2	56984	genome.wustl.edu	37	18	12706699	12706699	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr18:12706699G>A	ENST00000317615.6	+	2	890	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	PSMG2_ENST00000590217.1_Missense_Mutation_p.E70K|PSMG2_ENST00000585331.2_Missense_Mutation_p.E39K	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2											lung(1)|prostate(2)|skin(1)	4						AAATTCAACAGAACTTAGCAT	0.328																																						dbGAP											0													118.0	110.0	113.0					18																	12706699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"""hepatocellular carcinoma susceptibility protein"", ""CD40 ligand-activated specific transcript 3"""	609702	"""tumor necrosis factor superfamily, member 5-induced protein 1"""	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.208G>A	18.37:g.12706699G>A	ENSP00000325919:p.Glu70Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk	p.E70K	ENST00000317615.6	37	c.208	CCDS11862.1	18	.	.	.	.	.	.	.	.	.	.	g	19.31	3.803149	0.70682	.	.	ENSG00000128789	ENST00000317615;ENST00000539202	.	.	.	5.79	5.79	0.91817	.	0.093232	0.64402	D	0.000001	T	0.63438	0.2511	M	0.70787	2.145	0.80722	D	1	B;P	0.37207	0.304;0.587	B;B	0.39027	0.077;0.288	T	0.61352	-0.7080	9	0.07325	T	0.83	-5.6037	20.074	0.97736	0.0:0.0:1.0:0.0	.	70;62	Q969U7;Q9P1R6	PSMG2_HUMAN;.	K	70;52	.	ENSP00000325919:E70K	E	+	1	0	PSMG2	12696699	1.000000	0.71417	0.970000	0.41538	0.865000	0.49528	6.735000	0.74806	2.748000	0.94277	0.552000	0.68991	GAA	PSMG2	-	pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk	ENSG00000128789		0.328	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG2	HGNC	protein_coding	OTTHUMT00000254615.1	191	0.00	0	G	NM_020232		12706699	12706699	+1	no_errors	ENST00000317615	ensembl	human	known	69_37n	missense	226	16.91	46	SNP	1.000	A
RAPGEF6	51735	genome.wustl.edu	37	5	130834231	130834231	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr5:130834231C>G	ENST00000509018.1	-	12	1529	c.1324G>C	c.(1324-1326)Gat>Cat	p.D442H	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.D442H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.D157H|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.D442H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D442H|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D492H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D442H|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D442H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	442	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATAGAAAATCTTCTATATAA	0.358																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											0													75.0	79.0	78.0					5																	130834231		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1324G>C	5.37:g.130834231C>G	ENSP00000421684:p.Asp442His	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D442H	ENST00000509018.1	37	c.1324	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697202	0.88830	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.46	5.46	0.80206	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.78324	-0.2248	10	0.87932	D	0	.	19.3031	0.94150	0.0:1.0:0.0:0.0	.	442;442;442;157;492;442;442	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	H	442;442;442;442;442;157;442;442;492	ENSP00000421684:D442H;ENSP00000309298:D442H;ENSP00000426081:D442H;ENSP00000296859:D442H;ENSP00000426910:D157H;ENSP00000311419:D442H;ENSP00000425389:D442H;ENSP00000426948:D492H	ENSP00000426948:D492H	D	-	1	0	RAPGEF6;FNIP1	130862130	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.524000	0.85096	0.655000	0.94253	GAT	RAPGEF6	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000158987		0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	159	0.00	0	C	NM_016340		130834231	130834231	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	missense	77	70.50	184	SNP	1.000	G
TBP	6908	genome.wustl.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724|rs369312237		TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572																																						dbGAP											0													14.0	18.0	17.0					6																	170871055		1934	3804	5738	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.231G>A	6.37:g.170871055G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q77	ENST00000392092.2	37	c.231	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	26	0.00	0	G	NM_003194		170871055	170871055	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	26	20.59	7	SNP	0.993	A
TEP1	7011	genome.wustl.edu	37	14	20863645	20863645	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr14:20863645T>G	ENST00000262715.5	-	12	1932	c.1892A>C	c.(1891-1893)cAg>cCg	p.Q631P	TEP1_ENST00000556935.1_Missense_Mutation_p.Q523P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	631	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTCTTGAGCTGCTCATACAA	0.537																																						dbGAP											0													160.0	127.0	138.0					14																	20863645		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1892A>C	14.37:g.20863645T>G	ENSP00000262715:p.Gln631Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q631P	ENST00000262715.5	37	c.1892	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	T	10.84	1.465040	0.26335	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.50001	0.79;0.76	5.59	4.45	0.53987	TROVE (2);	0.652343	0.16286	N	0.221105	T	0.50377	0.1612	L	0.59436	1.845	0.58432	D	0.999992	P;P	0.48998	0.899;0.918	P;P	0.49140	0.466;0.601	T	0.44375	-0.9332	10	0.45353	T	0.12	-3.0E-4	8.523	0.33287	0.0:0.0878:0.0:0.9122	.	523;631	G3V5X7;Q99973	.;TEP1_HUMAN	P	631;631;523	ENSP00000262715:Q631P;ENSP00000452574:Q523P	ENSP00000262715:Q631P	Q	-	2	0	TEP1	19933485	0.465000	0.25815	0.874000	0.34290	0.004000	0.04260	1.488000	0.35551	0.949000	0.37715	-0.264000	0.10439	CAG	TEP1	-	pfam_TROVE,pfscan_TROVE	ENSG00000129566		0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	167	0.00	0	T	NM_007110		20863645	20863645	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	126	37.13	75	SNP	0.774	G
TET2	54790	genome.wustl.edu	37	4	106190828	106190828	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr4:106190828C>T	ENST00000540549.1	+	9	4966	c.4106C>T	c.(4105-4107)tCa>tTa	p.S1369L	TET2_ENST00000513237.1_Missense_Mutation_p.S1390L|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Missense_Mutation_p.S1369L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1369					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.S1369*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CGTCCATTCTCAGGGGTCACT	0.478			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											124.0	107.0	112.0					4																	106190828		692	1591	2283	-	-	-	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4106C>T	4.37:g.106190828C>T	ENSP00000442788:p.Ser1369Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.S1369L	ENST00000540549.1	37	c.4106	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.605843	0.96626	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.14266	2.52;2.52;2.52	5.72	5.72	0.89469	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.45736	0.1357	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.47873	-0.9083	9	0.87932	D	0	-9.4227	19.8861	0.96913	0.0:1.0:0.0:0.0	.	1390;1369	E7EQS8;Q6N021	.;TET2_HUMAN	L	1369;1390;1369	ENSP00000442788:S1369L;ENSP00000425443:S1390L;ENSP00000369351:S1369L	ENSP00000369351:S1369L	S	+	2	0	TET2	106410277	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.674000	0.83992	2.711000	0.92665	0.655000	0.94253	TCA	TET2	-	NULL	ENSG00000168769		0.478	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	116	0.00	0	C	NM_017628		106190828	106190828	+1	no_errors	ENST00000380013	ensembl	human	known	69_37n	missense	51	54.46	61	SNP	1.000	T
UBC	7316	genome.wustl.edu	37	12	125396964	125396964	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr12:125396964G>A	ENST00000536769.1	-	1	2930	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.R452C|UBC_ENST00000546120.1_Missense_Mutation_p.R376C|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	452	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTCTAAGACGGAGCACCAGG	0.522																																						dbGAP											0													7.0	9.0	8.0					12																	125396964		1966	3809	5775	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1354C>T	12.37:g.125396964G>A	ENSP00000441543:p.Arg452Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.R452C	ENST00000536769.1	37	c.1354	CCDS9260.1	12	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199422	0.58126	.	.	ENSG00000150991	ENST00000536769;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.77229	-1.08;-1.08;-1.08	3.59	3.59	0.41128	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.50627	U	0.000115	D	0.88636	0.6490	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90883	0.4755	10	0.87932	D	0	.	13.9637	0.64196	0.0:0.0:1.0:0.0	.	452	P0CG48	UBC_HUMAN	C	452;376;452;376	ENSP00000441543:R452C;ENSP00000344818:R452C;ENSP00000438394:R376C	ENSP00000344818:R452C	R	-	1	0	UBC	123962917	1.000000	0.71417	0.203000	0.23512	0.894000	0.52154	5.045000	0.64220	1.844000	0.53588	0.511000	0.50034	CGT	UBC	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	85	0.00	0	G	NM_021009		125396964	125396964	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	111	29.75	47	SNP	1.000	A
USP8	9101	genome.wustl.edu	37	15	50782646	50782646	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr15:50782646C>G	ENST00000396444.3	+	14	2496	c.2158C>G	c.(2158-2160)Cca>Gca	p.P720A	USP8_ENST00000307179.4_Missense_Mutation_p.P720A|USP8_ENST00000433963.1_Missense_Mutation_p.P720A|USP8_ENST00000425032.3_Missense_Mutation_p.P614A	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	720					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTACTCCTCCCCAGATATAAC	0.473																																						dbGAP											0													114.0	114.0	114.0					15																	50782646		2196	4294	6490	-	-	-	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2158C>G	15.37:g.50782646C>G	ENSP00000379721:p.Pro720Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.P720A	ENST00000396444.3	37	c.2158	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000850	0.93227	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.02085	4.46;4.46;4.46;4.46	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.997;0.997	P;D	0.70716	0.889;0.97	T	0.18335	-1.0340	10	0.49607	T	0.09	-13.2942	19.9733	0.97292	0.0:1.0:0.0:0.0	.	614;720	B4DKA8;P40818	.;UBP8_HUMAN	A	720;720;720;614	ENSP00000379721:P720A;ENSP00000405537:P720A;ENSP00000302239:P720A;ENSP00000412682:P614A	ENSP00000302239:P720A	P	+	1	0	USP8	48569938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.790000	0.95986	0.650000	0.86243	CCA	USP8	-	NULL	ENSG00000138592		0.473	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	157	0.00	0	C	NM_005154		50782646	50782646	+1	no_errors	ENST00000307179	ensembl	human	known	69_37n	missense	93	48.33	87	SNP	1.000	G
VPS13A	23230	genome.wustl.edu	37	9	79931137	79931137	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr9:79931137A>G	ENST00000360280.3	+	39	4938	c.4678A>G	c.(4678-4680)Aat>Gat	p.N1560D	VPS13A_ENST00000376634.4_Missense_Mutation_p.N1560D|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1560D|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1521D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1560					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATTATTAAAAATCCTGAAAT	0.264																																						dbGAP											0													57.0	60.0	59.0					9																	79931137		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4678A>G	9.37:g.79931137A>G	ENSP00000353422:p.Asn1560Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.N1560D	ENST00000360280.3	37	c.4678	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	A	11.82	1.752149	0.31046	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	N	0.25060	0.705	0.80722	D	1	B;D;D;D	0.89917	0.178;1.0;1.0;1.0	B;D;D;D	0.85130	0.076;0.997;0.981;0.981	T	0.49588	-0.8924	10	0.02654	T	1	.	15.6052	0.76664	1.0:0.0:0.0:0.0	.	1521;1560;1560;1560	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	D	1560;1521;1560;1560	ENSP00000365821:N1560D;ENSP00000365823:N1521D;ENSP00000353422:N1560D;ENSP00000349985:N1560D	ENSP00000349985:N1560D	N	+	1	0	VPS13A	79120957	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.519000	0.90563	2.095000	0.63458	0.460000	0.39030	AAT	VPS13A	-	NULL	ENSG00000197969		0.264	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	52	0.00	0	A	NM_015186		79931137	79931137	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	79	21.78	22	SNP	1.000	G
WDFY3	23001	genome.wustl.edu	37	4	85657344	85657347	+	Frame_Shift_Del	DEL	ATTA	ATTA	-			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	ATTA	ATTA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr4:85657344_85657347delATTA	ENST00000295888.4	-	42	7298_7301	c.6891_6894delTAAT	c.(6889-6894)cttaatfs	p.LN2297fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.LN2297fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2297	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GACTGTGTTTATTAAGACCACTTT	0.373																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6891_6894delTAAT	4.37:g.85657344_85657347delATTA	ENSP00000295888:p.Leu2297fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K2299fs	ENST00000295888.4	37	c.6894_6891	CCDS3609.1	4																																																																																			WDFY3	-	NULL	ENSG00000163625		0.373	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	471	0.00	0	ATTA	NM_014991		85657344	85657347	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	frame_shift_del	343	31.04	158	DEL	0.710:0.668:0.549:0.236	-
ZBTB3	79842	genome.wustl.edu	37	11	62520584	62520584	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr11:62520584C>T	ENST00000394807.3	-	2	828	c.703G>A	c.(703-705)Gat>Aat	p.D235N		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	235	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GGTGGCTCATCTGGAGGACGG	0.587																																						dbGAP											0													111.0	93.0	99.0					11																	62520584		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.703G>A	11.37:g.62520584C>T	ENSP00000378286:p.Asp235Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D235N	ENST00000394807.3	37	c.703	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642076	0.47153	.	.	ENSG00000185670	ENST00000394807	T	0.12774	2.65	5.04	4.13	0.48395	.	0.603260	0.16111	N	0.229108	T	0.09379	0.0231	N	0.24115	0.695	0.27261	N	0.958631	B	0.15930	0.015	B	0.14578	0.011	T	0.22836	-1.0205	10	0.27785	T	0.31	.	9.5336	0.39209	0.0:0.9048:0.0:0.0952	.	235	Q9H5J0	ZBTB3_HUMAN	N	235	ENSP00000378286:D235N	ENSP00000378286:D235N	D	-	1	0	ZBTB3	62277160	0.993000	0.37304	1.000000	0.80357	0.914000	0.54420	2.700000	0.47085	1.334000	0.45468	0.561000	0.74099	GAT	ZBTB3	-	NULL	ENSG00000185670		0.587	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	HGNC	protein_coding	OTTHUMT00000395342.1	100	0.00	0	C	NM_024784		62520584	62520584	-1	no_errors	ENST00000394807	ensembl	human	known	69_37n	missense	126	30.77	56	SNP	0.983	T
ZNF563	147837	genome.wustl.edu	37	19	12432110	12432110	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr19:12432110T>C	ENST00000293725.5	-	3	372	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	ZNF563_ENST00000595977.1_Missense_Mutation_p.Y56C	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGATTTTTGTACTGATCTTC	0.299																																					GBM(39;623 795 5132 29510 31476)	dbGAP											0													71.0	65.0	67.0					19																	12432110		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.167A>G	19.37:g.12432110T>C	ENSP00000293725:p.Tyr56Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E7|Q8NAT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y56C	ENST00000293725.5	37	c.167	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	T	2.406	-0.336510	0.05278	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.00808	5.67	0.715	0.715	0.18186	Krueppel-associated box (3);	.	.	.	.	T	0.00666	0.0022	N	0.12746	0.255	0.09310	N	0.999998	B;B	0.14805	0.001;0.011	B;B	0.09377	0.003;0.004	T	0.46105	-0.9215	8	0.32370	T	0.25	.	.	.	.	.	56;56	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	C	56	ENSP00000293725:Y56C	ENSP00000293725:Y56C	Y	-	2	0	ZNF563	12293110	0.074000	0.21230	0.044000	0.18714	0.022000	0.10575	0.603000	0.24149	0.554000	0.29061	0.254000	0.18369	TAC	ZNF563	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000188868		0.299	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	213	0.00	0	T	NM_145276		12432110	12432110	-1	no_errors	ENST00000293725	ensembl	human	known	69_37n	missense	183	37.11	108	SNP	0.371	C
ZNF85	7639	genome.wustl.edu	37	19	21131813	21131813	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr19:21131813G>C	ENST00000328178.8	+	4	606	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	ZNF85_ENST00000345030.6_Missense_Mutation_p.E132Q|ZNF85_ENST00000601023.1_Missense_Mutation_p.E106Q	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	165					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAACAGACATGAGATAAGACA	0.318																																						dbGAP											0													51.0	58.0	56.0					19																	21131813		2198	4297	6495	-	-	-	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.493G>C	19.37:g.21131813G>C	ENSP00000329793:p.Glu165Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E165Q	ENST00000328178.8	37	c.493	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	0.063	-1.219333	0.01542	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.17691	2.26;2.26	0.781	-0.428	0.12306	.	.	.	.	.	T	0.05364	0.0142	N	0.05078	-0.115	0.21184	N	0.999766	B;B;B	0.29835	0.004;0.258;0.003	B;B;B	0.29077	0.025;0.098;0.012	T	0.36212	-0.9757	9	0.07482	T	0.82	.	2.2092	0.03944	0.4329:0.3168:0.2503:0.0	.	132;106;165	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	Q	165;132;40	ENSP00000329793:E165Q;ENSP00000342340:E132Q	ENSP00000329793:E165Q	E	+	1	0	ZNF85	20923653	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.650000	0.00858	-0.274000	0.09232	-0.611000	0.04053	GAG	ZNF85	-	NULL	ENSG00000105750		0.318	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	49	0.00	0	G	NM_003429		21131813	21131813	+1	no_errors	ENST00000328178	ensembl	human	known	69_37n	missense	49	47.31	44	SNP	0.033	C
ZNF571	51276	genome.wustl.edu	37	19	38055672	38055672	+	Missense_Mutation	SNP	G	G	T	rs371620240		TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr19:38055672G>T	ENST00000328550.2	-	4	1757	c.1658C>A	c.(1657-1659)aCt>aAt	p.T553N	ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.T553N|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.T553N|ZNF571_ENST00000451802.2_Missense_Mutation_p.T553N			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTCTCCAGTATGAGTTCT	0.433																																						dbGAP											0													93.0	92.0	92.0					19																	38055672		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1658C>A	19.37:g.38055672G>T	ENSP00000333660:p.Thr553Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T553N	ENST00000328550.2	37	c.1658	CCDS12505.1	19	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330463	0.60743	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.26067	1.76;1.76;1.76	3.52	2.46	0.29980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40719	0.1128	L	0.49126	1.545	0.26361	N	0.977047	P	0.45768	0.866	P	0.60173	0.87	T	0.18053	-1.0349	9	0.72032	D	0.01	.	11.1155	0.48258	0.0:0.0:0.8137:0.1863	.	553	Q7Z3V5	ZN571_HUMAN	N	553	ENSP00000333660:T553N;ENSP00000392638:T553N;ENSP00000351594:T553N	ENSP00000333660:T553N	T	-	2	0	ZNF571	42747512	0.070000	0.21116	0.219000	0.23793	0.984000	0.73092	0.919000	0.28692	0.651000	0.30788	0.460000	0.39030	ACT	ZNF571	-	pfscan_Znf_C2H2	ENSG00000180479		0.433	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1	124	0.00	0	G	NM_016536		38055672	38055672	-1	no_errors	ENST00000328550	ensembl	human	known	69_37n	missense	137	39.38	89	SNP	0.994	T
ZNF525	170958	genome.wustl.edu	37	19	53884186	53884186	+	5'Flank	SNP	A	A	G			TCGA-E2-A10B-01A-11D-A10M-09	TCGA-E2-A10B-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9d712002-74cb-459a-b350-e9a4b49aac13	814d30f1-0842-4ace-86c2-fb1c50013484	g.chr19:53884186A>G	ENST00000355326.3	+	0	0				ZNF525_ENST00000467003.1_Silent_p.K82K|ZNF525_ENST00000474037.1_Silent_p.K118K|ZNF525_ENST00000600148.1_3'UTR|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						AAATCAAAAAATTGATGGGTA	0.378																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884186A>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TF23	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K118	ENST00000355326.3	37	c.354		19																																																																																			ZNF525	-	NULL	ENSG00000203326		0.378	ZNF525-201	KNOWN	basic	protein_coding	ZNF525	HGNC	protein_coding		91	0.00	0	A	NR_003699		53884186	53884186	+1	no_errors	ENST00000474037	ensembl	human	putative	69_37n	silent	242	15.97	46	SNP	0.001	G
