#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_ORegAnno_bin	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
A2M	2	genome.wustl.edu	37	12	9220358	9220359	+	3'UTR	INS	-	-	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr12:9220358_9220359insT	ENST00000318602.7	-	0	4792_4793				LINC00612_ENST00000538094.1_RNA|A2M-AS1_ENST00000499762.1_RNA	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	ACAAAAACACGTGTCTTCTGTG	0.366																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.*61->A	12.37:g.9220359_9220359dupT			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Frame_Shift_Ins	INS	pfam_Macroglobln_a2,pfam_SV_autoAg	p.R167fs	ENST00000318602.7	37	c.502_501	CCDS44827.1	12																																																																																			A2M	-	NULL	ENSG00000175899		0.366	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	37	0.00	0	-	NM_000014		9220358	9220359	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000543436	ensembl	human	putative	69_37n	frame_shift_ins	15	50.00	15	INS	0.000:0.000	T
ABR	29	genome.wustl.edu	37	17	909373	909374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr17:909373_909374insG	ENST00000302538.5	-	23	2672_2673	c.2526_2527insC	c.(2524-2529)cccattfs	p.I843fs	ABR_ENST00000544583.2_Frame_Shift_Ins_p.I797fs|ABR_ENST00000536794.2_Frame_Shift_Ins_p.I625fs|ABR_ENST00000291107.2_Frame_Shift_Ins_p.I806fs|ABR_ENST00000574437.1_Frame_Shift_Ins_p.I797fs|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Frame_Shift_Ins_p.I294fs	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	843	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I843fs*>18(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCGAAGGAAATGGGGGGGTGCT	0.644																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											1	Insertion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2527dupC	17.37:g.909380_909380dupG	ENSP00000303909:p.Ile843fs		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.I842fs	ENST00000302538.5	37	c.2527_2526	CCDS10999.1	17																																																																																			ABR	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	ENSG00000159842		0.644	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	27	0.00	0	-			909373	909374	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	frame_shift_ins	37	11.90	5	INS	1.000:1.000	G
ALDH1A1	216	genome.wustl.edu	37	9	75540496	75540496	+	Silent	SNP	C	C	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr9:75540496C>T	ENST00000297785.3	-	6	591	c.537G>A	c.(535-537)aaG>aaA	p.K179K	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Silent_p.K179K	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	179					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CAGGCCCTATCTTCCAAATGA	0.413																																						dbGAP											0													103.0	88.0	93.0					9																	75540496		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.537G>A	9.37:g.75540496C>T			O00768|Q5SYR1	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.K179	ENST00000297785.3	37	c.537	CCDS6644.1	9																																																																																			ALDH1A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.413	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	104	0.00	0	C			75540496	75540496	-1	no_errors	ENST00000297785	ensembl	human	known	69_37n	silent	78	40.91	54	SNP	1.000	T
ANO8	57719	genome.wustl.edu	37	19	17436073	17436074	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr19:17436073_17436074delCT	ENST00000159087.4	-	17	2941_2942	c.2783_2784delAG	c.(2782-2784)gagfs	p.E929fs		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	929					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCCTCGCCTCCTCTCGGCCACC	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2783_2784delAG	19.37:g.17436075_17436076delCT	ENSP00000159087:p.Glu929fs		A6NIJ0	Frame_Shift_Del	DEL	pfam_Anoctamin	p.E928fs	ENST00000159087.4	37	c.2784_2783	CCDS32949.1	19																																																																																			ANO8	-	NULL	ENSG00000074855		0.703	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	19	0.00	0	CT	XM_050644		17436073	17436074	-1	no_errors	ENST00000159087	ensembl	human	known	69_37n	frame_shift_del	1	66.67	2	DEL	0.975:0.978	-
ARHGAP35	2909	genome.wustl.edu	37	19	47492897	47492897	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr19:47492897C>T	ENST00000404338.3	+	4	4001	c.4001C>T	c.(4000-4002)cCg>cTg	p.P1334L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1334	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCCCTGGTCCCGTATAACATG	0.542																																						dbGAP											0													156.0	155.0	156.0					19																	47492897		1988	4157	6145	-	-	-	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4001C>T	19.37:g.47492897C>T	ENSP00000385720:p.Pro1334Leu		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P1334L	ENST00000404338.3	37	c.4001	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	30	5.051195	0.93740	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.50813	0.73	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77726	-0.2480	10	0.87932	D	0	-22.436	18.1907	0.89806	0.0:1.0:0.0:0.0	.	1334	Q9NRY4-2	.	L	1334	ENSP00000385720:P1334L	ENSP00000324820:P1334L	P	+	2	0	ARHGAP35	52184737	1.000000	0.71417	0.944000	0.38274	0.928000	0.56348	7.337000	0.79256	2.604000	0.88044	0.655000	0.94253	CCG	ARHGAP35	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000160007		0.542	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	99	0.00	0	C	NM_004491		47492897	47492897	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	missense	35	31.37	16	SNP	1.000	T
BDP1	55814	genome.wustl.edu	37	5	70793174	70793174	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr5:70793174C>T	ENST00000358731.4	+	13	2140	c.1877C>T	c.(1876-1878)gCt>gTt	p.A626V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	626					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTGTCAAGGGCTGGGAAGAAA	0.353																																						dbGAP											0													93.0	87.0	89.0					5																	70793174		1827	4088	5915	-	-	-	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1877C>T	5.37:g.70793174C>T	ENSP00000351575:p.Ala626Val		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.A626V	ENST00000358731.4	37	c.1877	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317435	0.81469	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.20332	2.08	5.05	5.05	0.67936	.	0.455903	0.23766	N	0.044768	T	0.45756	0.1358	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.85130	0.947;0.997;0.943	T	0.40794	-0.9544	10	0.66056	D	0.02	.	14.2512	0.66021	0.0:1.0:0.0:0.0	.	626;626;626	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	626;626;206;626	ENSP00000351575:A626V	ENSP00000351575:A626V	A	+	2	0	BDP1	70828930	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	3.677000	0.54619	2.504000	0.84457	0.591000	0.81541	GCT	BDP1	-	NULL	ENSG00000145734		0.353	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	91	0.00	0	C	NM_018429		70793174	70793174	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	missense	157	13.26	24	SNP	1.000	T
CEP350	9857	genome.wustl.edu	37	1	180047729	180047729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:180047729delG	ENST00000367607.3	+	29	6317	c.5899delG	c.(5899-5901)gggfs	p.G1967fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1967					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGAGCAGCCAGGGAGTCCAGA	0.398																																						dbGAP											0													59.0	59.0	59.0					1																	180047729		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5899delG	1.37:g.180047729delG	ENSP00000356579:p.Gly1967fs		O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.S1968fs	ENST00000367607.3	37	c.5899	CCDS1336.1	1																																																																																			CEP350	-	NULL	ENSG00000135837		0.398	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	132	0.00	0	G	NM_014810		180047729	180047729	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	frame_shift_del	135	41.67	100	DEL	0.704	-
CROT	54677	genome.wustl.edu	37	7	86988539	86988539	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr7:86988539C>G	ENST00000331536.3	+	4	318	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	CROT_ENST00000412227.2_Missense_Mutation_p.Q45E|CROT_ENST00000442291.1_Missense_Mutation_p.Q45E|CROT_ENST00000419147.2_Missense_Mutation_p.Q73E	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	45					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATTTGCAAATCAAGAAGAATA	0.308																																						dbGAP											0													57.0	66.0	63.0					7																	86988539		2202	4284	6486	-	-	-	SO:0001583	missense	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.133C>G	7.37:g.86988539C>G	ENSP00000331981:p.Gln45Glu		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.Q45E	ENST00000331536.3	37	c.133	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	C	1.006	-0.689308	0.03328	.	.	ENSG00000005469	ENST00000419147;ENST00000412227;ENST00000331536;ENST00000442291	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.78	1.43	0.22495	.	0.333498	0.34986	N	0.003529	T	0.50343	0.1610	N	0.00214	-1.84	0.26882	N	0.967525	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.57963	-0.7720	10	0.02654	T	1	-13.7223	6.5293	0.22318	0.2602:0.3558:0.384:0.0	.	73;45;45	E7EQF2;Q9UKG9;Q86V17	.;OCTC_HUMAN;.	E	73;45;45;45	ENSP00000413575:Q73E;ENSP00000404867:Q45E;ENSP00000331981:Q45E;ENSP00000411983:Q45E	ENSP00000331981:Q45E	Q	+	1	0	CROT	86826475	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	1.354000	0.34056	0.283000	0.22279	-0.203000	0.12734	CAA	CROT	-	pfam_Carn_acyl_trans	ENSG00000005469		0.308	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	79	0.00	0	C	NM_021151		86988539	86988539	+1	no_errors	ENST00000331536	ensembl	human	known	69_37n	missense	67	57.59	91	SNP	0.999	G
DNAH3	55567	genome.wustl.edu	37	16	21115812	21115812	+	Silent	SNP	T	T	C			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr16:21115812T>C	ENST00000261383.3	-	16	2345	c.2346A>G	c.(2344-2346)gcA>gcG	p.A782A	DNAH3_ENST00000415178.1_Silent_p.A782A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	782	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCCATTTCTGCCTGATCCC	0.473																																						dbGAP											0													241.0	219.0	227.0					16																	21115812		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2346A>G	16.37:g.21115812T>C			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.A782	ENST00000261383.3	37	c.2346	CCDS10594.1	16																																																																																			DNAH3	-	NULL	ENSG00000158486		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	155	0.00	0	T	NM_017539		21115812	21115812	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	silent	266	33.17	132	SNP	0.995	C
UGT1A6	54578	genome.wustl.edu	37	2	234652187	234652188	+	Intron	INS	-	-	C	rs544018510	byFrequency	TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr2:234652187_234652188insC	ENST00000305139.6	+	2	1000				UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A5_ENST00000373414.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AGTTCCTCTGACCCCCCCAAAA	0.54													cccccc|CCCCCCC|CCCCCCCC|cryptic_indel	31	0.0061901	0.0212	0.0043	5008	,	,		16507	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23492->C	2.37:g.234652194_234652194dupC			A6NKK6|B8K289|Q96TE7	RNA	INS	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			DNAJB3	-	-	ENSG00000227802		0.540	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	HGNC	protein_coding	OTTHUMT00000130988.1	62	0.00	0	-	NM_205862		234652187	234652188	-1	no_errors	ENST00000449667	ensembl	human	known	69_37n	rna	31	13.89	5	INS	0.050:0.014	C
DSCAM	1826	genome.wustl.edu	37	21	41427655	41427655	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr21:41427655T>C	ENST00000400454.1	-	29	5509	c.5032A>G	c.(5032-5034)Att>Gtt	p.I1678V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1678					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTTACCAATGGTCTCCATC	0.493																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													145.0	146.0	145.0					21																	41427655		1946	4141	6087	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5032A>G	21.37:g.41427655T>C	ENSP00000383303:p.Ile1678Val		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1678V	ENST00000400454.1	37	c.5032	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876600	0.33162	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.58652	0.32;0.41	5.37	5.37	0.77165	.	0.119914	0.56097	D	0.000029	T	0.41442	0.1159	N	0.12746	0.255	0.32454	N	0.54501	B	0.02656	0.0	B	0.04013	0.001	T	0.49523	-0.8931	10	0.45353	T	0.12	.	15.3358	0.74250	0.0:0.0:0.0:1.0	.	1678	O60469	DSCAM_HUMAN	V	1678;1430	ENSP00000383303:I1678V;ENSP00000385342:I1430V	ENSP00000383303:I1678V	I	-	1	0	DSCAM	40349525	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	2.648000	0.46647	2.164000	0.68074	0.533000	0.62120	ATT	DSCAM	-	NULL	ENSG00000171587		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	162	0.00	0	T	NM_001389		41427655	41427655	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	83	35.16	45	SNP	0.999	C
DUSP16	80824	genome.wustl.edu	37	12	12630859	12630860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr12:12630859_12630860insG	ENST00000228862.2	-	7	1536_1537	c.905_906insC	c.(904-906)actfs	p.T302fs	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	302					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTGATGCTCCAGTCTGGTTCTT	0.47																																					Ovarian(158;443 1896 15437 36069 46477)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.906dupC	12.37:g.12630860_12630860dupG	ENSP00000228862:p.Thr302fs		Q547C7|Q96QS2|Q9C0G3	Frame_Shift_Ins	INS	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.G303fs	ENST00000228862.2	37	c.906_905	CCDS8650.1	12																																																																																			DUSP16	-	NULL	ENSG00000111266		0.470	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP16	HGNC	protein_coding	OTTHUMT00000400311.1	55	0.00	0	-	NM_030640		12630859	12630860	-1	no_errors	ENST00000228862	ensembl	human	known	69_37n	frame_shift_ins	24	40.00	16	INS	0.737:0.915	G
EDC4	23644	genome.wustl.edu	37	16	67917529	67917529	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr16:67917529delC	ENST00000358933.5	+	28	4147	c.3908delC	c.(3907-3909)gccfs	p.A1303fs	NRN1L_ENST00000339176.3_5'Flank|NRN1L_ENST00000576147.1_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1303					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGGACCCAGCCCAGGTTTTT	0.557											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													155.0	163.0	161.0					16																	67917529		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3908delC	16.37:g.67917529delC	ENSP00000351811:p.Ala1303fs	1103	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1304fs	ENST00000358933.5	37	c.3908	CCDS10849.1	16																																																																																			EDC4	-	NULL	ENSG00000038358		0.557	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	65	0.00	0	C	NM_014329		67917529	67917529	+1	no_errors	ENST00000358933	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	1.000	-
FASTKD5	60493	genome.wustl.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						dbGAP											0									,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				-	-	-	SO:0001589	frameshift_variant	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs		Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.P572fs	ENST00000380266.3	37	c.1717_1716	CCDS13048.1	20																																																																																			FASTKD5	-	pfam_FAST_2	ENSG00000215251		0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	54	0.00	0	-	NM_021826		3128000	3128001	-1	no_errors	ENST00000380266	ensembl	human	known	69_37n	frame_shift_ins	64	12.33	9	INS	1.000:0.997	C
FCRL1	115350	genome.wustl.edu	37	1	157767580	157767580	+	Intron	SNP	C	C	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:157767580C>T	ENST00000368176.3	-	9	1254				FCRL1_ENST00000491942.1_Intron|FCRL1_ENST00000358292.3_Missense_Mutation_p.G343D|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGTTGTCTGCCATGCACAGC	0.507																																					GBM(54;482 1003 11223 30131 35730)	dbGAP											0													188.0	166.0	172.0					1																	157767580		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1186+77G>A	1.37:g.157767580C>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G343D	ENST00000368176.3	37	c.1028	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644788	0.14451	.	.	ENSG00000163534	ENST00000358292	T	0.44881	0.91	4.18	0.244	0.15507	.	.	.	.	.	T	0.05777	0.0151	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.40459	-0.9562	8	0.10902	T	0.67	.	3.2922	0.06953	0.1829:0.5183:0.0:0.2988	.	343	Q96LA6-3	.	D	343	ENSP00000351039:G343D	ENSP00000351039:G343D	G	-	2	0	FCRL1	156034204	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.324000	0.07986	0.052000	0.16007	-0.152000	0.13540	GGC	FCRL1	-	NULL	ENSG00000163534		0.507	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	203	0.00	0	C	NM_052938		157767580	157767580	-1	no_errors	ENST00000358292	ensembl	human	known	69_37n	missense	96	49.21	93	SNP	0.000	T
FRMPD4	9758	genome.wustl.edu	37	X	12734333	12734333	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chrX:12734333C>A	ENST00000380682.1	+	15	2261	c.1755C>A	c.(1753-1755)agC>agA	p.S585R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	585					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCACAGACAGCACCATGTGTC	0.502																																						dbGAP											0													128.0	112.0	118.0					X																	12734333		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1755C>A	X.37:g.12734333C>A	ENSP00000370057:p.Ser585Arg		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.S585R	ENST00000380682.1	37	c.1755	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267631	0.23136	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.25749	1.78	5.47	2.29	0.28610	.	0.315870	0.36101	N	0.002799	T	0.19805	0.0476	L	0.54323	1.7	0.09310	N	1	P;B	0.36330	0.548;0.001	B;B	0.34180	0.177;0.003	T	0.10823	-1.0613	10	0.26408	T	0.33	.	7.0273	0.24946	0.0:0.4783:0.0:0.5217	.	577;585	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	R	585;576;574	ENSP00000370057:S585R	ENSP00000304583:S574R	S	+	3	2	FRMPD4	12644254	0.995000	0.38212	0.379000	0.26080	0.733000	0.41908	0.805000	0.27112	0.505000	0.28104	-0.344000	0.07964	AGC	FRMPD4	-	NULL	ENSG00000169933		0.502	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	131	0.00	0	C	XM_045712		12734333	12734333	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	55	42.71	41	SNP	0.016	A
ITPKB	3707	genome.wustl.edu	37	1	226924456	226924456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:226924456delG	ENST00000272117.3	-	1	703	c.704delC	c.(703-705)ccafs	p.P236fs	ITPKB_ENST00000366784.1_Frame_Shift_Del_p.P236fs|ITPKB_ENST00000429204.1_Frame_Shift_Del_p.P236fs			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	236					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGGAAGAGGTGGCATTCCTTT	0.607																																					Colon(84;110 1851 5306 33547)	dbGAP											0													62.0	67.0	65.0					1																	226924456		2202	4295	6497	-	-	-	SO:0001589	frameshift_variant	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.704delC	1.37:g.226924456delG	ENSP00000272117:p.Pro236fs		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Frame_Shift_Del	DEL	pfam_IPK	p.P235fs	ENST00000272117.3	37	c.704	CCDS1555.1	1																																																																																			ITPKB	-	NULL	ENSG00000143772		0.607	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	14	0.00	0	G	NM_002221		226924456	226924456	-1	no_errors	ENST00000272117	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.014	-
KL	9365	genome.wustl.edu	37	13	33629465	33629465	+	Intron	SNP	A	A	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr13:33629465A>T	ENST00000380099.3	+	3	1607				KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.T231S	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho						acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAGTCAGCTGACAAAACCAAT	0.458																																						dbGAP											0													43.0	47.0	46.0					13																	33629465		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1599+13A>T	13.37:g.33629465A>T			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T231S	ENST00000380099.3	37	c.691	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	A	7.024	0.559313	0.13436	.	.	ENSG00000133116	ENST00000426690	T	0.29397	1.57	5.76	-1.7	0.08159	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.49389	D	0.999785	B	0.20261	0.043	B	0.19946	0.027	T	0.15809	-1.0424	7	.	.	.	.	3.6849	0.08324	0.5556:0.0949:0.2479:0.1015	.	231	B3KUJ4	.	S	231	ENSP00000399513:T231S	.	T	+	1	0	KL	32527465	0.989000	0.36119	0.904000	0.35570	0.518000	0.34316	0.374000	0.20501	-0.137000	0.11455	-1.139000	0.01908	ACA	KL	-	NULL	ENSG00000133116		0.458	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	65	0.00	0	A			33629465	33629465	+1	no_errors	ENST00000426690	ensembl	human	known	69_37n	missense	35	26.53	13	SNP	0.249	T
KRT1	3848	genome.wustl.edu	37	12	53070227	53070227	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr12:53070227G>A	ENST00000252244.3	-	7	1365	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	436	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ATCCTTGAGGGCATTCTCGCC	0.547																																						dbGAP											0													80.0	73.0	76.0					12																	53070227		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1307C>T	12.37:g.53070227G>A	ENSP00000252244:p.Ala436Val		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.A436V	ENST00000252244.3	37	c.1307	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213276	0.79352	.	.	ENSG00000167768	ENST00000252244	T	0.75589	-0.95	5.03	5.03	0.67393	Prefoldin (1);Filament (1);	.	.	.	.	D	0.89753	0.6806	M	0.92833	3.35	0.43047	D	0.994648	D	0.89917	1.0	D	0.91635	0.999	D	0.92381	0.5913	9	0.87932	D	0	.	18.7384	0.91764	0.0:0.0:1.0:0.0	.	436	P04264	K2C1_HUMAN	V	436	ENSP00000252244:A436V	ENSP00000252244:A436V	A	-	2	0	KRT1	51356494	1.000000	0.71417	0.927000	0.36925	0.595000	0.36748	6.486000	0.73629	2.502000	0.84385	0.462000	0.41574	GCC	KRT1	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II	ENSG00000167768		0.547	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	115	0.00	0	G	NM_006121		53070227	53070227	-1	no_errors	ENST00000252244	ensembl	human	known	69_37n	missense	44	42.11	32	SNP	1.000	A
LMOD1	25802	genome.wustl.edu	37	1	201869751	201869751	+	Silent	SNP	T	T	C			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:201869751T>C	ENST00000367288.4	-	2	636	c.390A>G	c.(388-390)ttA>ttG	p.L130L	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	130					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCTTTTCTTTAAACCACCCC	0.552																																						dbGAP											0													111.0	114.0	113.0					1																	201869751		1907	4126	6033	-	-	-	SO:0001819	synonymous_variant	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.390A>G	1.37:g.201869751T>C			B1APV6|C4AMB1|Q68EN2	Silent	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.L130	ENST00000367288.4	37	c.390	CCDS53457.1	1																																																																																			LMOD1	-	NULL	ENSG00000163431		0.552	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	144	0.00	0	T			201869751	201869751	-1	no_errors	ENST00000367288	ensembl	human	known	69_37n	silent	58	44.23	46	SNP	0.034	C
MAP3K4	4216	genome.wustl.edu	37	6	161470644	161470644	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr6:161470644C>T	ENST00000392142.4	+	3	1488	c.1340C>T	c.(1339-1341)aCa>aTa	p.T447I	MAP3K4_ENST00000366919.2_Missense_Mutation_p.T447I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.T447I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T447I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	447					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTGATGACACAGAAGGAGAA	0.453																																						dbGAP											0													88.0	85.0	86.0					6																	161470644		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1340C>T	6.37:g.161470644C>T	ENSP00000375986:p.Thr447Ile		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T447I	ENST00000392142.4	37	c.1340	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277117	0.23307	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.6	2.89	0.33648	.	0.750628	0.12848	N	0.434238	T	0.03739	0.0106	N	0.14661	0.345	0.09310	N	0.999999	P;B	0.34757	0.467;0.393	B;B	0.34779	0.176;0.189	T	0.37798	-0.9690	10	0.37606	T	0.19	-0.4426	5.5475	0.17071	0.0:0.5169:0.1742:0.3089	.	447;447	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	I	447	ENSP00000355886:T447I;ENSP00000375986:T447I;ENSP00000355887:T447I;ENSP00000297332:T447I	ENSP00000297332:T447I	T	+	2	0	MAP3K4	161390634	0.658000	0.27402	0.002000	0.10522	0.957000	0.61999	1.267000	0.33050	0.328000	0.23435	0.650000	0.86243	ACA	MAP3K4	-	NULL	ENSG00000085511		0.453	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	172	0.00	0	C			161470644	161470644	+1	no_errors	ENST00000392142	ensembl	human	known	69_37n	missense	164	21.90	46	SNP	0.039	T
MFN2	9927	genome.wustl.edu	37	1	12062055	12062055	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:12062055C>A	ENST00000235329.5	+	11	1377	c.1055C>A	c.(1054-1056)tCt>tAt	p.S352Y	MFN2_ENST00000444836.1_Missense_Mutation_p.S352Y	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	352					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATCTCCCAGTCTGCAGTGAAG	0.617																																						dbGAP											0													131.0	135.0	134.0					1																	12062055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1055C>A	1.37:g.12062055C>A	ENSP00000235329:p.Ser352Tyr		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.S352Y	ENST00000235329.5	37	c.1055	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864569	0.91511	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.95821	-3.82;-3.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98325	1.0530	10	0.62326	D	0.03	-15.4642	18.6765	0.91529	0.0:1.0:0.0:0.0	.	352	O95140	MFN2_HUMAN	Y	352;352;50	ENSP00000416338:S352Y;ENSP00000235329:S352Y	ENSP00000235329:S352Y	S	+	2	0	MFN2	11984642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.778000	0.68940	2.655000	0.90218	0.650000	0.86243	TCT	MFN2	-	NULL	ENSG00000116688		0.617	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	140	0.00	0	C	NM_014874		12062055	12062055	+1	no_errors	ENST00000235329	ensembl	human	known	69_37n	missense	25	50.00	25	SNP	1.000	A
GPRC5A	9052	genome.wustl.edu	37	12	13068851	13068852	+	3'UTR	DNP	GC	GC	AA			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr12:13068851_13068852GC>AA	ENST00000014914.5	+	0	5342_5343				MIR614_ENST00000385082.1_RNA	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A						signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GAAGGTTGCTGCTCATTTGAGC	0.52																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		Exception_encountered	12.37:g.13068851_13068852delinsAA			B3KV45|O95357	RNA	SNP	-	NULL	ENST00000014914.5	37	NULL	CCDS8657.1	12																																																																																			MIR614	-	-	ENSG00000207817		0.520	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR614	HGNC	protein_coding	OTTHUMT00000400682.1	184|183	0.00	0	G|C			13068851|13068852	13068851|13068852	+1	no_errors	ENST00000385082	ensembl	human	known	69_37n	rna	73	54.37|54.66	87|88	SNP	0.000	A
NAA10	8260	genome.wustl.edu	37	X	153197829	153197829	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chrX:153197829G>T	ENST00000464845.1	-	5	599	c.281C>A	c.(280-282)gCc>gAc	p.A94D	NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370015.4_Missense_Mutation_p.A94D|NAA10_ENST00000370009.1_Missense_Mutation_p.A94D|NAA10_ENST00000393712.3_Missense_Mutation_p.A94D	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	94	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GGCTCGAGAGGCCTGGTCCAT	0.587																																					Ovarian(94;1099 1433 38814 45882 51063)	dbGAP											0													59.0	54.0	56.0					X																	153197829		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.281C>A	X.37:g.153197829G>T	ENSP00000417763:p.Ala94Asp		A6NM98	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.A94D	ENST00000464845.1	37	c.281	CCDS14737.1	X	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975216	0.92919	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000545734;ENST00000370011;ENST00000432089	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.04	5.04	0.67666	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	H	0.97635	4.045	0.80722	D	1	P;P;D	0.63880	0.766;0.919;0.993	P;D;D	0.64877	0.598;0.93;0.93	T	0.82014	-0.0667	10	0.87932	D	0	-33.1405	16.2163	0.82224	0.0:0.0:1.0:0.0	.	94;94;94	B7Z9N2;A6NM98;P41227	.;.;NAA10_HUMAN	D	94;94;94;94;94;88;88	ENSP00000417763:A94D;ENSP00000359032:A94D;ENSP00000377315:A94D;ENSP00000359026:A94D;ENSP00000359028:A88D;ENSP00000413668:A88D	ENSP00000359026:A94D	A	-	2	0	NAA10	152851023	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.425000	0.80255	2.080000	0.62538	0.525000	0.51046	GCC	NAA10	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000102030		0.587	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA10	HGNC	protein_coding	OTTHUMT00000061108.2	64	0.00	0	G	NM_003491		153197829	153197829	-1	no_errors	ENST00000464845	ensembl	human	known	69_37n	missense	20	48.72	19	SNP	1.000	T
NACAD	23148	genome.wustl.edu	37	7	45120356	45120357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr7:45120356_45120357insC	ENST00000490531.2	-	7	4575_4576	c.4556_4557insG	c.(4555-4557)gacfs	p.D1519fs		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1519					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GCCCCGCCTCGTCCACCTGGAG	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4556_4557insG	7.37:g.45120356_45120357insC	ENSP00000420477:p.Asp1519fs			Frame_Shift_Ins	INS	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.D1519fs	ENST00000490531.2	37	c.4557_4556	CCDS47582.1	7																																																																																			NACAD	-	NULL	ENSG00000136274		0.663	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	101	0.00	0	-	NM_001146334		45120356	45120357	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	frame_shift_ins	11	21.43	3	INS	0.941:1.000	C
NLGN3	54413	genome.wustl.edu	37	X	70389734	70389735	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chrX:70389734_70389735insC	ENST00000358741.3	+	8	2637_2638	c.2334_2335insC	c.(2335-2337)cccfs	p.P779fs	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Frame_Shift_Ins_p.P759fs|NLGN3_ENST00000536169.1_Frame_Shift_Ins_p.P739fs	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	779					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GTGAGGCCGGTCCCCCCCATGA	0.678																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2341dupC	X.37:g.70389741_70389741dupC	ENSP00000351591:p.Pro779fs		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.H780fs	ENST00000358741.3	37	c.2334_2335	CCDS55441.1	X																																																																																			NLGN3	-	NULL	ENSG00000196338		0.678	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	148	0.67	1	-	NM_018977		70389734	70389735	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	frame_shift_ins	73	12.05	10	INS	0.004:0.347	C
OBSCN	84033	genome.wustl.edu	37	1	228471278	228471278	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:228471278delA	ENST00000422127.1	+	33	8856	c.8812delA	c.(8812-8814)aagfs	p.K2938fs	OBSCN_ENST00000366707.4_Frame_Shift_Del_p.K57fs|OBSCN_ENST00000359599.6_Frame_Shift_Del_p.K1785fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.K57fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.K2938fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.K3367fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2938	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTCACGTGCAAGACGGAGCA	0.622																																						dbGAP											0													40.0	45.0	43.0					1																	228471278		2130	4235	6365	-	-	-	SO:0001589	frameshift_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8812delA	1.37:g.228471278delA	ENSP00000409493:p.Lys2938fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.K2938fs	ENST00000422127.1	37	c.8812	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000154358		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		64	0.00	0	A	NM_052843		228471278	228471278	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.956	-
OLFM4	10562	genome.wustl.edu	37	13	53624378	53624378	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr13:53624378C>A	ENST00000219022.2	+	5	1083	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	335	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CAGTTTACAACAACAACATGT	0.433																																						dbGAP											0													169.0	137.0	148.0					13																	53624378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1005C>A	13.37:g.53624378C>A	ENSP00000219022:p.Asn335Lys		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.N335K	ENST00000219022.2	37	c.1005	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	C	9.214	1.031571	0.19590	.	.	ENSG00000102837	ENST00000219022	T	0.13089	2.62	5.92	-10.3	0.00346	Olfactomedin-like (3);	0.594602	0.19836	N	0.104969	T	0.04907	0.0132	N	0.17872	0.535	0.28090	N	0.931831	B	0.11235	0.004	B	0.20384	0.029	T	0.12041	-1.0563	10	0.27785	T	0.31	.	4.9227	0.13878	0.5635:0.1501:0.1404:0.146	.	335	Q6UX06	OLFM4_HUMAN	K	335	ENSP00000219022:N335K	ENSP00000219022:N335K	N	+	3	2	OLFM4	52522379	0.000000	0.05858	0.030000	0.17652	0.890000	0.51754	-2.511000	0.00958	-1.847000	0.01173	-0.175000	0.13238	AAC	OLFM4	-	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	ENSG00000102837		0.433	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2	127	0.00	0	C	NM_006418		53624378	53624378	+1	no_errors	ENST00000219022	ensembl	human	known	69_37n	missense	84	40.85	58	SNP	0.006	A
PCDH15	65217	genome.wustl.edu	37	10	55912885	55912885	+	Missense_Mutation	SNP	C	C	A	rs377756993		TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr10:55912885C>A	ENST00000320301.6	-	14	2153	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y	PCDH15_ENST00000395438.1_Missense_Mutation_p.D587Y|PCDH15_ENST00000373957.3_Missense_Mutation_p.D565Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.D198Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D587Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D587Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D594Y|PCDH15_ENST00000373965.2_Missense_Mutation_p.D594Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D592Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D587Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D587Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D565Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D587Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D550Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	587	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAGCATTATCCGCTGCTTGG	0.478										HNSCC(58;0.16)																												dbGAP											0													111.0	98.0	103.0					10																	55912885		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1759G>T	10.37:g.55912885C>A	ENSP00000322604:p.Asp587Tyr		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D587Y	ENST00000320301.6	37	c.1759	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754571	0.89843	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.83	5.83	0.93111	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.94810	0.8324	H	0.99143	4.445	0.53688	D	0.999974	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96599	0.9443	9	0.87932	D	0	.	19.7294	0.96176	0.0:1.0:0.0:0.0	.	565;587;587;592;587;550;587;587;594;594;587;592;587;565;587	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	594;592;587;587;198;594;587;550;587;565;565;587;587;592;587;587	ENSP00000363076:D594Y;ENSP00000410304:D592Y;ENSP00000378826:D587Y;ENSP00000386693:D198Y;ENSP00000378832:D594Y;ENSP00000378833:D587Y;ENSP00000378820:D550Y;ENSP00000354950:D587Y;ENSP00000378821:D565Y;ENSP00000363068:D565Y;ENSP00000322604:D587Y;ENSP00000378818:D587Y;ENSP00000412628:D587Y;ENSP00000363066:D587Y	ENSP00000322604:D587Y	D	-	1	0	PCDH15	55582891	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.304000	0.78882	2.764000	0.94973	0.650000	0.86243	GAT	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.478	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	172	0.00	0	C	NM_033056		55912885	55912885	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	125	25.60	43	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	83	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	101	41.62	72	SNP	1.000	A
PRPF3	9129	genome.wustl.edu	37	1	150307447	150307447	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:150307447T>C	ENST00000324862.6	+	7	935	c.770T>C	c.(769-771)aTc>aCc	p.I257T	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.I208T|PRPF3_ENST00000543398.1_Missense_Mutation_p.I122T	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	257					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACACCACTGATCCTGGATGAG	0.458																																					Ovarian(168;1070 2670 5178 20729)	dbGAP											0													83.0	72.0	76.0					1																	150307447		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.770T>C	1.37:g.150307447T>C	ENSP00000315379:p.Ile257Thr		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI	p.I257T	ENST00000324862.6	37	c.770	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430494	0.83776	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.78924	-1.22;-1.18	6.08	6.08	0.98989	.	0.093589	0.64402	D	0.000001	T	0.82125	0.4969	M	0.79123	2.44	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.54664	0.758;0.642	D	0.83633	0.0146	10	0.51188	T	0.08	-8.3255	16.6438	0.85155	0.0:0.0:0.0:1.0	.	208;257	E7EVD1;O43395	.;PRPF3_HUMAN	T	257;208;122	ENSP00000315379:I257T;ENSP00000387844:I208T	ENSP00000315379:I257T	I	+	2	0	PRPF3	148574071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.798000	0.85924	2.333000	0.79357	0.533000	0.62120	ATC	PRPF3	-	NULL	ENSG00000117360		0.458	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	94	0.00	0	T	NM_004698		150307447	150307447	+1	no_errors	ENST00000324862	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	1.000	C
RNF123	63891	genome.wustl.edu	37	3	49750025	49750025	+	Silent	SNP	C	C	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr3:49750025C>A	ENST00000327697.6	+	27	2754	c.2610C>A	c.(2608-2610)gcC>gcA	p.A870A	RNF123_ENST00000433785.1_5'Flank|RNF123_ENST00000432042.1_Silent_p.A724A	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	870					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGAGCGTGGCCATCAACAGCT	0.557																																						dbGAP											0													157.0	125.0	136.0					3																	49750025		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2610C>A	3.37:g.49750025C>A			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.A870	ENST00000327697.6	37	c.2610	CCDS33758.1	3																																																																																			RNF123	-	NULL	ENSG00000164068		0.557	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	90	0.00	0	C	NM_022064		49750025	49750025	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	silent	15	44.44	12	SNP	1.000	A
SATB2	23314	genome.wustl.edu	37	2	200137254	200137254	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr2:200137254T>A	ENST00000417098.1	-	11	2698	c.1882A>T	c.(1882-1884)Atc>Ttc	p.I628F	SATB2_ENST00000443023.1_Missense_Mutation_p.I569F|SATB2_ENST00000428695.1_Missense_Mutation_p.I510F|SATB2_ENST00000457245.1_Missense_Mutation_p.I628F|SATB2_ENST00000260926.5_Missense_Mutation_p.I628F	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	628					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTTGGAGGATCCCCAGGGCT	0.547																																					Colon(30;262 767 11040 24421 36230)	dbGAP											0													77.0	78.0	77.0					2																	200137254		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1882A>T	2.37:g.200137254T>A	ENSP00000401112:p.Ile628Phe		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.I628F	ENST00000417098.1	37	c.1882	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338961	0.81911	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.982;0.997	P;D	0.79108	0.746;0.992	D	0.97705	1.0187	10	0.87932	D	0	-16.4518	15.9017	0.79384	0.0:0.0:0.0:1.0	.	510;628	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	F	628;569;628;510;628	ENSP00000401112:I628F;ENSP00000388764:I569F;ENSP00000260926:I628F;ENSP00000388581:I510F;ENSP00000405420:I628F	ENSP00000260926:I628F	I	-	1	0	SATB2	199845499	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.997000	0.88414	2.213000	0.71641	0.528000	0.53228	ATC	SATB2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000119042		0.547	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	103	0.00	0	T	NM_015265		200137254	200137254	-1	no_errors	ENST00000260926	ensembl	human	known	69_37n	missense	69	49.64	69	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	4011199	4011199	+	Splice_Site	SNP	C	C	T	rs555051428	byFrequency	TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr7:4011199C>T	ENST00000404826.2	+	12	1955	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	SDK1_ENST00000389531.3_Splice_Site_p.R606C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	606	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGTTTCACTCCGGTCAGCACA	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		18764	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													68.0	56.0	60.0					7																	4011199		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1817+1C>T	7.37:g.4011199C>T			Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R606C	ENST00000404826.2	37	c.1816	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137592	0.37728	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.68025	-0.3;-0.3	5.39	3.36	0.38483	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068961	0.52532	D	0.000068	D	0.82706	0.5095	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85397	0.1129	10	0.87932	D	0	.	11.1601	0.48509	0.5807:0.4193:0.0:0.0	.	606	Q7Z5N4	SDK1_HUMAN	C	606	ENSP00000385899:R606C;ENSP00000374182:R606C	ENSP00000374182:R606C	R	+	1	0	SDK1	3977725	1.000000	0.71417	0.998000	0.56505	0.178000	0.23041	2.290000	0.43531	1.212000	0.43366	-0.274000	0.10170	CGC	SDK1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000146555		0.527	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	108	0.00	0	C	NM_152744	Missense_Mutation	4011199	4011199	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	66	28.26	26	SNP	1.000	T
SLC10A6	345274	genome.wustl.edu	37	4	87770240	87770240	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr4:87770240G>A	ENST00000273905.6	-	1	176	c.29C>T	c.(28-30)gCc>gTc	p.A10V	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	10					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GGCAGGGCAGGCTGAGCTGCT	0.542																																						dbGAP											0													76.0	73.0	74.0					4																	87770240		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.29C>T	4.37:g.87770240G>A	ENSP00000273905:p.Ala10Val		Q70EX7	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.A10V	ENST00000273905.6	37	c.29	CCDS3614.1	4	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011032	0.54361	.	.	ENSG00000145283	ENST00000273905	T	0.07327	3.2	5.85	3.96	0.45880	.	0.546330	0.18732	N	0.132701	T	0.04952	0.0133	N	0.19112	0.55	0.24986	N	0.991566	B	0.18310	0.027	B	0.17433	0.018	T	0.40664	-0.9551	10	0.17832	T	0.49	-14.5612	6.3379	0.21306	0.1035:0.184:0.7125:0.0	.	10	Q3KNW5	SOAT_HUMAN	V	10	ENSP00000273905:A10V	ENSP00000273905:A10V	A	-	2	0	SLC10A6	87989264	0.640000	0.27243	0.983000	0.44433	0.870000	0.49936	1.448000	0.35112	1.395000	0.46643	0.655000	0.94253	GCC	SLC10A6	-	tigrfam_Bil_ac_transpt	ENSG00000145283		0.542	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A6	HGNC	protein_coding	OTTHUMT00000253043.2	54	0.00	0	G	NM_197965		87770240	87770240	-1	no_errors	ENST00000273905	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.991	A
SLC13A2	9058	genome.wustl.edu	37	17	26817851	26817851	+	Silent	SNP	C	C	T	rs192486018	byFrequency	TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr17:26817851C>T	ENST00000314669.5	+	4	921	c.501C>T	c.(499-501)aaC>aaT	p.N167N	SLC13A2_ENST00000537681.1_Silent_p.N96N|SLC13A2_ENST00000444914.3_Silent_p.N216N|SLC13A2_ENST00000545060.1_Silent_p.N124N	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	167					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGCAGCAACGTCGAGGAGG	0.592													c|||	2	0.000399361	0.0008	0.0	5008	,	,		18913	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													68.0	59.0	62.0					17																	26817851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.501C>T	17.37:g.26817851C>T			B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.N216	ENST00000314669.5	37	c.648	CCDS11231.1	17																																																																																			SLC13A2	-	pfam_Na/sul_symport	ENSG00000007216		0.592	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1	175	0.00	0	C	NM_003984		26817851	26817851	+1	no_errors	ENST00000444914	ensembl	human	known	69_37n	silent	29	42.00	21	SNP	0.000	T
SLC5A12	159963	genome.wustl.edu	37	11	26725447	26725447	+	Silent	SNP	G	G	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr11:26725447G>A	ENST00000396005.3	-	5	882	c.573C>T	c.(571-573)gtC>gtT	p.V191V	SLC5A12_ENST00000280467.6_Silent_p.V191V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	191					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCACAATCATGACAACCATCT	0.413																																						dbGAP											0													233.0	209.0	217.0					11																	26725447		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.573C>T	11.37:g.26725447G>A			Q86UC7	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V191	ENST00000396005.3	37	c.573	CCDS7860.2	11																																																																																			SLC5A12	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000148942		0.413	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	189	0.00	0	G	NM_178498		26725447	26725447	-1	no_errors	ENST00000396005	ensembl	human	known	69_37n	silent	112	27.74	43	SNP	0.994	A
SMCR8	140775	genome.wustl.edu	37	17	18220579	18220579	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr17:18220579C>A	ENST00000406438.3	+	1	1956	c.1476C>A	c.(1474-1476)agC>agA	p.S492R	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	492						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCCAGGCAAGCCTCACAGTAC	0.517																																						dbGAP											0													58.0	61.0	60.0					17																	18220579		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1476C>A	17.37:g.18220579C>A	ENSP00000385025:p.Ser492Arg		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.S492R	ENST00000406438.3	37	c.1476	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912653	0.33721	.	.	ENSG00000176994	ENST00000406438	T	0.25085	1.82	5.73	4.74	0.60224	.	0.154165	0.56097	N	0.000021	T	0.17066	0.0410	L	0.29908	0.895	0.35995	D	0.836945	B	0.13145	0.007	B	0.08055	0.003	T	0.11131	-1.0600	10	0.52906	T	0.07	-59.7657	5.9725	0.19361	0.1431:0.6478:0.1377:0.0714	.	492	Q8TEV9	SMCR8_HUMAN	R	492	ENSP00000385025:S492R	ENSP00000385025:S492R	S	+	3	2	SMCR8	18161304	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.498000	0.35660	1.377000	0.46286	0.655000	0.94253	AGC	SMCR8	-	NULL	ENSG00000176994		0.517	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	30	0.00	0	C	NM_144775		18220579	18220579	+1	no_errors	ENST00000406438	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	1.000	A
SMG5	23381	genome.wustl.edu	37	1	156252453	156252454	+	Frame_Shift_Ins	INS	-	-	G	rs140385195	byFrequency	TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:156252453_156252454insG	ENST00000361813.5	-	1	162_163	c.18_19insC	c.(16-21)cccacafs	p.T7fs	TMEM79_ENST00000357501.2_5'Flank|TMEM79_ENST00000405535.2_5'Flank|SMG5_ENST00000368267.5_Frame_Shift_Ins_p.T7fs|TMEM79_ENST00000295694.5_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	7					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CTCTCCCCTGTGGGGGGGCCTT	0.693																																						dbGAP											0										12,4250		0,12,2119						-10.1	0.0			20	13,8237		0,13,4112	no	frameshift	SMG5	NM_015327.2		0,25,6231	A1A1,A1R,RR		0.1576,0.2816,0.1998				25,12487				-	-	-	SO:0001589	frameshift_variant	0			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.19dupC	1.37:g.156252460_156252460dupG	ENSP00000355261:p.Thr7fs		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Frame_Shift_Ins	INS	pfam_EST1,smart_PINc_nuc-bd	p.T6fs	ENST00000361813.5	37	c.19_18	CCDS1137.1	1																																																																																			SMG5	-	NULL	ENSG00000198952		0.693	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	33	0.00	0	-	NM_015327		156252453	156252454	-1	no_errors	ENST00000361813	ensembl	human	known	69_37n	frame_shift_ins	26	13.33	4	INS	0.004:0.011	G
STARD8	9754	genome.wustl.edu	37	X	67937329	67937329	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chrX:67937329G>T	ENST00000252336.6	+	5	705	c.333G>T	c.(331-333)caG>caT	p.Q111H	STARD8_ENST00000374597.3_Missense_Mutation_p.Q111H|STARD8_ENST00000374599.3_Missense_Mutation_p.Q191H	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	111					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCCCCACCCAGGGCCAGGAGG	0.637																																						dbGAP											0													47.0	45.0	46.0					X																	67937329		2202	4299	6501	-	-	-	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.333G>T	X.37:g.67937329G>T	ENSP00000252336:p.Gln111His		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.Q191H	ENST00000252336.6	37	c.573	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	g	0.710	-0.787693	0.02884	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07908	3.15;3.15;3.15	4.39	-2.6	0.06190	.	2.219660	0.01851	N	0.035918	T	0.06462	0.0166	L	0.37630	1.12	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.34725	-0.9817	10	0.31617	T	0.26	.	0.8219	0.01113	0.309:0.2975:0.2407:0.1528	.	191;111	Q92502-2;Q92502	.;STAR8_HUMAN	H	111;191;111	ENSP00000252336:Q111H;ENSP00000363727:Q191H;ENSP00000363725:Q111H	ENSP00000252336:Q111H	Q	+	3	2	STARD8	67854054	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-1.395000	0.02516	-0.279000	0.09167	0.597000	0.82753	CAG	STARD8	-	NULL	ENSG00000130052		0.637	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	74	0.00	0	G	NM_014725		67937329	67937329	+1	no_errors	ENST00000374599	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	0.000	T
TIMMDC1	51300	genome.wustl.edu	37	3	119236093	119236093	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr3:119236093C>G	ENST00000494664.1	+	6	840	c.638C>G	c.(637-639)tCt>tGt	p.S213C	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.S79C	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	213				S -> A (in Ref. 4; AAQ88996). {ECO:0000305}.		integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAGAAGTACTCTGGTGAGACT	0.463																																						dbGAP											0													122.0	126.0	125.0					3																	119236093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.638C>G	3.37:g.119236093C>G	ENSP00000418803:p.Ser213Cys		D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.S213C	ENST00000494664.1	37	c.638	CCDS33831.1	3	.	.	.	.	.	.	.	.	.	.	C	4.242	0.043875	0.08196	.	.	ENSG00000113845	ENST00000494664;ENST00000493694;ENST00000466984	T;T;T	0.46063	1.44;0.94;0.88	5.28	-10.6	0.00265	.	1.413230	0.04211	N	0.331657	T	0.16342	0.0393	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24476	-1.0159	10	0.41790	T	0.15	3.3584	5.6714	0.17725	0.1291:0.2691:0.508:0.0938	.	213	Q9NPL8	TIDC1_HUMAN	C	213;79;128	ENSP00000418803:S213C;ENSP00000419510:S79C;ENSP00000420122:S128C	ENSP00000420122:S128C	S	+	2	0	TIMMDC1	120718783	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-2.431000	0.01023	-2.878000	0.00320	-0.256000	0.11100	TCT	TIMMDC1	-	NULL	ENSG00000113845		0.463	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMMDC1	HGNC	protein_coding	OTTHUMT00000355077.3	124	0.00	0	C	NM_016589		119236093	119236093	+1	no_errors	ENST00000494664	ensembl	human	known	69_37n	missense	125	47.70	114	SNP	0.000	G
TMC8	147138	genome.wustl.edu	37	17	76128557	76128558	+	Frame_Shift_Ins	INS	-	-	C	rs549283975		TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr17:76128557_76128558insC	ENST00000318430.5	+	4	790_791	c.416_417insC	c.(415-420)cgccccfs	p.RP139fs	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	139					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GTCTGGCTCCGCCCCCCTGACC	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.422dupC	17.37:g.76128563_76128563dupC	ENSP00000325561:p.Arg139fs		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Frame_Shift_Ins	INS	pfam_TMC	p.D142fs	ENST00000318430.5	37	c.416_417	CCDS32749.1	17																																																																																			TMC8	-	NULL	ENSG00000167895		0.668	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	20	0.00	0	-			76128557	76128558	+1	no_errors	ENST00000318430	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.060:0.060	C
TTL	150465	genome.wustl.edu	37	2	113277954	113277954	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr2:113277954A>G	ENST00000233336.6	+	6	1162	c.971A>G	c.(970-972)gAg>gGg	p.E324G		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	324	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTCGATGAGGAGCTGAAGGTG	0.532			T	ETV6	ALL																																	dbGAP		Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0													133.0	112.0	119.0					2																	113277954		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.971A>G	2.37:g.113277954A>G	ENSP00000233336:p.Glu324Gly		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E324G	ENST00000233336.6	37	c.971	CCDS2096.1	2	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414803	0.42817	.	.	ENSG00000114999	ENST00000233336	T	0.07688	3.17	5.58	4.42	0.53409	ATP-grasp fold, subdomain 2 (1);	0.641258	0.18008	N	0.154663	T	0.07052	0.0179	L	0.27053	0.805	0.36761	D	0.883262	B	0.20164	0.042	B	0.19666	0.026	T	0.28004	-1.0057	10	0.23891	T	0.37	.	12.2196	0.54428	0.8573:0.1427:0.0:0.0	.	324	Q8NG68	TTL_HUMAN	G	324	ENSP00000233336:E324G	ENSP00000233336:E324G	E	+	2	0	TTL	112994425	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.093000	0.50217	1.037000	0.40024	0.459000	0.35465	GAG	TTL	-	pfam_Tub_tyr_ligase	ENSG00000114999		0.532	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	187	0.00	0	A	NM_153712		113277954	113277954	+1	no_errors	ENST00000233336	ensembl	human	known	69_37n	missense	80	52.38	88	SNP	1.000	G
WSCD2	9671	genome.wustl.edu	37	12	108642028	108642028	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr12:108642028C>A	ENST00000332082.4	+	10	2424	c.1606C>A	c.(1606-1608)Cag>Aag	p.Q536K	WSCD2_ENST00000549903.1_Missense_Mutation_p.Q556K|WSCD2_ENST00000547525.1_Missense_Mutation_p.Q536K|WSCD2_ENST00000261400.3_Missense_Mutation_p.Q556K			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	536						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCGGACATGCAGAAGACCAT	0.572																																						dbGAP											0													61.0	66.0	64.0					12																	108642028		2027	4191	6218	-	-	-	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1606C>A	12.37:g.108642028C>A	ENSP00000331933:p.Gln536Lys		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.Q556K	ENST00000332082.4	37	c.1666	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	C	4.237	0.042873	0.08196	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.26660	1.72;4.76;1.72;4.76	4.78	3.82	0.43975	.	0.130635	0.48767	D	0.000179	T	0.09423	0.0232	N	0.04090	-0.28	0.34804	D	0.73707	B;B	0.22683	0.073;0.005	B;B	0.17979	0.02;0.006	T	0.18335	-1.0340	10	0.05525	T	0.97	-12.9035	10.1967	0.43058	0.3737:0.6263:0.0:0.0	.	556;536	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	K	536;556;536;556	ENSP00000448047:Q536K;ENSP00000261400:Q556K;ENSP00000331933:Q536K;ENSP00000447272:Q556K	ENSP00000261400:Q556K	Q	+	1	0	WSCD2	107166158	1.000000	0.71417	0.956000	0.39512	0.924000	0.55760	1.444000	0.35068	2.205000	0.71048	0.655000	0.94253	CAG	WSCD2	-	NULL	ENSG00000075035		0.572	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	105	0.00	0	C	NM_014653		108642028	108642028	+1	no_errors	ENST00000261400	ensembl	human	known	69_37n	missense	22	52.17	24	SNP	1.000	A
ZCCHC6	79670	genome.wustl.edu	37	9	88961242	88961242	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr9:88961242T>G	ENST00000375963.3	-	3	846	c.674A>C	c.(673-675)aAg>aCg	p.K225T	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.K225T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.K225T|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.K58T	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	225					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GCAGTCTCTCTTCAGTCTCTC	0.418																																						dbGAP											0													231.0	214.0	220.0					9																	88961242		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.674A>C	9.37:g.88961242T>G	ENSP00000365130:p.Lys225Thr		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.K225T	ENST00000375963.3	37	c.674	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861560	0.51482	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.29	0.269	0.15631	.	0.317275	0.37012	N	0.002285	T	0.35970	0.0950	L	0.51422	1.61	0.23210	N	0.998113	P;P;P;B	0.46512	0.726;0.675;0.879;0.361	P;B;P;B	0.48270	0.461;0.381;0.572;0.134	T	0.24190	-1.0167	10	0.62326	D	0.03	-7.9957	8.9376	0.35708	0.0:0.3092:0.0:0.6908	.	225;225;225;225	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	T	225;225;225;58;58	ENSP00000365127:K225T;ENSP00000365128:K225T;ENSP00000365130:K225T;ENSP00000365114:K58T	ENSP00000365114:K58T	K	-	2	0	ZCCHC6	88151062	0.464000	0.25807	0.149000	0.22428	0.485000	0.33311	0.315000	0.19451	-0.095000	0.12351	0.397000	0.26171	AAG	ZCCHC6	-	NULL	ENSG00000083223		0.418	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	397	0.00	0	T	NM_024617		88961242	88961242	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	missense	280	35.03	151	SNP	0.429	G
ZFYVE9	9372	genome.wustl.edu	37	1	52704506	52704509	+	Frame_Shift_Del	DEL	TATC	TATC	-			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	TATC	TATC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr1:52704506_52704509delTATC	ENST00000371591.1	+	3	1548_1551	c.1417_1420delTATC	c.(1417-1422)tatctafs	p.YL473fs	ZFYVE9_ENST00000357206.2_Frame_Shift_Del_p.YL473fs|ZFYVE9_ENST00000287727.3_Frame_Shift_Del_p.YL473fs	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	473					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGCAGCAAATTATCTATCTAATGG	0.377																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1417_1420delTATC	1.37:g.52704510_52704513delTATC	ENSP00000360647:p.Tyr473fs		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Frame_Shift_Del	DEL	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.S475fs	ENST00000371591.1	37	c.1417_1420	CCDS563.1	1																																																																																			ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.377	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	110	0.00	0	TATC	NM_007324		52704506	52704509	+1	no_errors	ENST00000287727	ensembl	human	known	69_37n	frame_shift_del	73	36.21	42	DEL	0.923:0.916:0.906:0.903	-
ZNF354C	30832	genome.wustl.edu	37	5	178503490	178503490	+	Silent	SNP	C	C	T			TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr5:178503490C>T	ENST00000315475.6	+	3	378	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	24	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAGCCAGGACGAGTGGTTGC	0.537																																						dbGAP											0													166.0	148.0	154.0					5																	178503490		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.72C>T	5.37:g.178503490C>T			Q6P4P9|Q8NFX1	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.D24	ENST00000315475.6	37	c.72	CCDS4443.1	5																																																																																			ZNF354C	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000177932		0.537	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	262	0.00	0	C			178503490	178503490	+1	no_errors	ENST00000315475	ensembl	human	known	69_37n	silent	270	23.30	82	SNP	0.590	T
ZNF74	7625	genome.wustl.edu	37	22	20759967	20759967	+	Missense_Mutation	SNP	C	C	G	rs200970807		TCGA-B6-A0IC-01A-11W-A050-09	TCGA-B6-A0IC-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f23fd730-0a18-4e3b-a2ed-f1a4231c2b53	4882294f-dbab-4a58-a2b9-aa53b02158f7	g.chr22:20759967C>G	ENST00000400451.2	+	5	1158	c.644C>G	c.(643-645)gCg>gGg	p.A215G	ZNF74_ENST00000405993.1_Missense_Mutation_p.A183G|ZNF74_ENST00000356671.5_Missense_Mutation_p.A215G|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	215					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAGGCCCCCGCGAGACTGTGT	0.687																																						dbGAP											0													19.0	26.0	24.0					22																	20759967		2013	4163	6176	-	-	-	SO:0001583	missense	0			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.644C>G	22.37:g.20759967C>G	ENSP00000383301:p.Ala215Gly		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	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.A215G	ENST00000400451.2	37	c.644	CCDS42982.1	22	.	.	.	.	.	.	.	.	.	.	C	3.031	-0.199601	0.06219	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.06142	3.44;3.44;3.34	1.52	-3.05	0.05396	.	4.909620	0.00659	N	0.000591	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38607	-0.9653	10	0.37606	T	0.19	-0.0348	4.5898	0.12301	0.3571:0.4429:0.2:0.0	.	215	Q16587	ZNF74_HUMAN	G	215;215;183	ENSP00000383301:A215G;ENSP00000349098:A215G;ENSP00000385855:A183G	ENSP00000349098:A215G	A	+	2	0	ZNF74	19089967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.137000	0.03219	-0.782000	0.04541	0.563000	0.77884	GCG	ZNF74	-	NULL	ENSG00000185252		0.687	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF74	HGNC	protein_coding	OTTHUMT00000319648.2	47	0.00	0	C	NM_003426		20759967	20759967	+1	no_errors	ENST00000356671	ensembl	human	known	69_37n	missense	6	62.50	10	SNP	0.000	G
