#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
ABO	28	genome.wustl.edu	37	9	136131416	136131416	+	RNA	SNP	G	G	A			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr9:136131416G>A	ENST00000453660.2	-	0	712				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CGTAGAAGCCGGGGTGCAGGG	0.652																																						dbGAP											0													22.0	27.0	25.0					9																	136131416		2074	4183	6257	-	-	-			0			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131416G>A			B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	-	NULL	ENST00000453660.2	37	NULL		9																																																																																			ABO	-	-	ENSG00000175164		0.652	ABO-001	KNOWN	basic	processed_transcript	ABO	HGNC	processed_transcript	OTTHUMT00000054907.4	15	0.00	0	G	NM_020469		136131416	136131416	-1	no_errors	ENST00000453660	ensembl	human	known	69_37n	rna	8	52.94	9	SNP	0.004	A
ARHGAP15	55843	genome.wustl.edu	37	2	144525681	144525681	+	Silent	SNP	C	C	T	rs373251922		TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr2:144525681C>T	ENST00000295095.6	+	14	1535	c.1368C>T	c.(1366-1368)aaC>aaT	p.N456N	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	456	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCTACCAGAACCAGATAGCTG	0.473																																						dbGAP											0													141.0	125.0	131.0					2																	144525681		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1368C>T	2.37:g.144525681C>T			Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.N456	ENST00000295095.6	37	c.1368	CCDS2184.1	2																																																																																			ARHGAP15	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000075884		0.473	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	170	0.00	0	C	NM_018460		144525681	144525681	+1	no_errors	ENST00000295095	ensembl	human	known	69_37n	silent	78	19.59	19	SNP	1.000	T
BPHL	670	genome.wustl.edu	37	6	3119540	3119540	+	Intron	SNP	C	C	A			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr6:3119540C>A	ENST00000380379.5	+	1	156				BPHL_ENST00000380368.2_5'UTR|BPHL_ENST00000380375.3_5'UTR|BPHL_ENST00000434640.1_5'UTR	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)						cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGCCTGAGTACCGCTAAGGCT	0.458																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.107+459C>A	6.37:g.3119540C>A			Q00306|Q13855|Q3KP51	Nonsense_Mutation	SNP	NULL	p.Y43*	ENST00000380379.5	37	c.129	CCDS4483.2	6																																																																																			BPHL	-	NULL	ENSG00000137274		0.458	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPHL	HGNC	protein_coding	OTTHUMT00000039670.5	43	0.00	0	C			3119540	3119540	+1	no_errors	ENST00000424847	ensembl	human	known	69_37n	nonsense	36	11.90	5	SNP	0.001	A
CHRNA3	1136	genome.wustl.edu	37	15	78894311	78894311	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr15:78894311C>T	ENST00000326828.5	-	5	1057	c.673G>A	c.(673-675)Gag>Aag	p.E225K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.E225K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	225					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	TAGATCTCCTCGCAGCAGTTG	0.547																																						dbGAP											0													198.0	165.0	176.0					15																	78894311		2196	4293	6489	-	-	-	SO:0001583	missense	0				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.673G>A	15.37:g.78894311C>T	ENSP00000315602:p.Glu225Lys		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E225K	ENST00000326828.5	37	c.673	CCDS10305.1	15	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970158	0.92855	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.78707	-1.2;-1.2	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046962	0.85682	D	0.000000	D	0.82688	0.5091	L	0.48642	1.525	0.80722	D	1	D;D	0.65815	0.993;0.995	P;P	0.56700	0.804;0.771	T	0.80160	-0.1498	10	0.37606	T	0.19	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	225;225	P32297;P32297-3	ACHA3_HUMAN;.	K	225;225;89	ENSP00000267951:E225K;ENSP00000315602:E225K	ENSP00000315602:E225K	E	-	1	0	CHRNA3	76681366	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.811000	0.86092	2.793000	0.96121	0.655000	0.94253	GAG	CHRNA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000080644		0.547	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA3	HGNC	protein_coding	OTTHUMT00000290111.3	476	0.00	0	C			78894311	78894311	-1	no_errors	ENST00000326828	ensembl	human	known	69_37n	missense	258	17.25	54	SNP	1.000	T
ERCC8	1161	genome.wustl.edu	37	5	60199504	60199504	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr5:60199504T>C	ENST00000265038.5	-	6	563	c.521A>G	c.(520-522)aAg>aGg	p.K174R	ERCC8_ENST00000543101.1_Missense_Mutation_p.K21R|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Missense_Mutation_p.K116R	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	174					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				GGATCCAGACTTCAAGTCACA	0.333																																						dbGAP											0													74.0	78.0	77.0					5																	60199504		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.521A>G	5.37:g.60199504T>C	ENSP00000265038:p.Lys174Arg		B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K174R	ENST00000265038.5	37	c.521	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850831	0.32699	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596;ENST00000439176	T;T;T;T	0.79845	-1.31;-1.31;-1.31;0.2	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044183	0.85682	D	0.000000	T	0.64159	0.2573	N	0.05534	-0.03	0.58432	D	0.999997	B;B;B	0.24721	0.11;0.0;0.0	B;B;B	0.20955	0.032;0.001;0.001	T	0.61710	-0.7007	10	0.21540	T	0.41	-22.2035	15.1312	0.72527	0.0:0.0:0.0:1.0	.	21;174;174	B4DGZ9;Q13216-2;Q13216	.;.;ERCC8_HUMAN	R	116;174;21;173;116	ENSP00000400110:K116R;ENSP00000265038:K174R;ENSP00000441732:K21R;ENSP00000408344:K116R	ENSP00000265038:K174R	K	-	2	0	ERCC8	60235261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.054000	0.64275	2.313000	0.78055	0.454000	0.30748	AAG	ERCC8	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000049167		0.333	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	150	0.00	0	T	NM_000082		60199504	60199504	-1	no_errors	ENST00000265038	ensembl	human	known	69_37n	missense	100	15.97	19	SNP	1.000	C
FSCN1	6624	genome.wustl.edu	37	7	5644991	5644991	+	Silent	SNP	C	C	T	rs550354749	byFrequency	TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr7:5644991C>T	ENST00000382361.3	+	5	1482	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	FSCN1_ENST00000340250.6_Silent_p.C435C	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	456					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCGAGTTCTGCGACTATAACA	0.642													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16859	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													61.0	56.0	58.0					7																	5644991		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1368C>T	7.37:g.5644991C>T			A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.C456	ENST00000382361.3	37	c.1368	CCDS5342.1	7																																																																																			FSCN1	-	pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000075618		0.642	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	55	0.00	0	C	NM_003088		5644991	5644991	+1	no_errors	ENST00000382361	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	0.999	T
FUNDC1	139341	genome.wustl.edu	37	X	44386496	44386498	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chrX:44386496_44386498delTTG	ENST00000378045.4	-	4	543_545	c.375_377delCAA	c.(373-378)aacaat>aat	p.125_126NN>N	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	125					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TTCAATTAAATTGTTGATTTCAG	0.34																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.375_377delCAA	X.37:g.44386499_44386501delTTG	ENSP00000367284:p.Asn126del			In_Frame_Del	DEL	pfam_FUN14	p.N126in_frame_del	ENST00000378045.4	37	c.377_375	CCDS14263.1	X																																																																																			FUNDC1	-	pfam_FUN14	ENSG00000069509		0.340	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC1	HGNC	protein_coding	OTTHUMT00000056320.1	642	0.00	0	TTG	NM_173794		44386496	44386498	-1	no_errors	ENST00000378045	ensembl	human	known	69_37n	in_frame_del	192	24.12	62	DEL	0.997:1.000:1.000	-
GOLGA6L17P	642402	genome.wustl.edu	37	15	85053219	85053219	+	RNA	SNP	C	C	T			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr15:85053219C>T	ENST00000414190.2	-	0	233					NR_003246.2																						TGCAGCCTCTCCTGCTCCTCC	0.522																																						dbGAP											0																																										-	-	-			0																															15.37:g.85053219C>T				RNA	SNP	-	NULL	ENST00000414190.2	37	NULL		15																																																																																			GOLGA6L5	-	-	ENSG00000230373		0.522	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	GOLGA6L5	HGNC	pseudogene	OTTHUMT00000418579.1	10	0.00	0	C			85053219	85053219	-1	no_errors	ENST00000414190	ensembl	human	known	69_37n	rna	12	45.45	10	SNP	0.073	T
HGF	3082	genome.wustl.edu	37	7	81392029	81392029	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr7:81392029G>C	ENST00000222390.5	-	2	474	c.248C>G	c.(247-249)aCt>aGt	p.T83S	HGF_ENST00000354224.6_Missense_Mutation_p.T83S|HGF_ENST00000444829.2_Missense_Mutation_p.T83S|HGF_ENST00000457544.2_Missense_Mutation_p.T83S|HGF_ENST00000423064.2_Missense_Mutation_p.T83S|HGF_ENST00000453411.1_Missense_Mutation_p.T83S|HGF_ENST00000453018.1_5'UTR	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	83	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTACTTGCAAGTGAATGGAAG	0.308																																						dbGAP											0													166.0	152.0	157.0					7																	81392029		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.248C>G	7.37:g.81392029G>C	ENSP00000222390:p.Thr83Ser		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T83S	ENST00000222390.5	37	c.248	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734725	0.30774	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.72	5.72	0.89469	PAN-1 domain (1);Apple-like (2);	0.302465	0.40302	N	0.001139	D	0.83229	0.5209	L	0.28740	0.885	0.54753	D	0.999989	B;B;B;B;B	0.31752	0.338;0.001;0.002;0.003;0.004	B;B;B;B;B	0.28139	0.086;0.004;0.004;0.002;0.004	T	0.79533	-0.1764	10	0.17832	T	0.49	.	19.8968	0.96969	0.0:0.0:1.0:0.0	.	118;83;83;83;83	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	S	83	ENSP00000222390:T83S;ENSP00000391238:T83S;ENSP00000389854:T83S;ENSP00000408270:T83S;ENSP00000413829:T83S;ENSP00000346164:T83S;ENSP00000396307:T83S;ENSP00000388592:T83S	ENSP00000222390:T83S	T	-	2	0	HGF	81229965	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.473000	0.73572	2.691000	0.91804	0.655000	0.94253	ACT	HGF	-	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app	ENSG00000019991		0.308	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	550	0.00	0	G	NM_000601		81392029	81392029	-1	no_errors	ENST00000222390	ensembl	human	known	69_37n	missense	272	15.79	51	SNP	1.000	C
HSP90AA1	3320	genome.wustl.edu	37	14	102551267	102551269	+	In_Frame_Del	DEL	TTC	TTC	-	rs3208444		TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr14:102551267_102551269delTTC	ENST00000216281.8	-	5	935_937	c.730_732delGAA	c.(730-732)gaadel	p.E244del	HSP90AA1_ENST00000441629.2_In_Frame_Del_p.E65del|HSP90AA1_ENST00000334701.7_In_Frame_Del_p.E366del	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	244					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.E366fs*72(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ctttttctttttcttcttctttg	0.384																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001651	inframe_deletion	0			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.730_732delGAA	14.37:g.102551273_102551275delTTC	ENSP00000216281:p.Glu244del		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	In_Frame_Del	DEL	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.E366in_frame_del	ENST00000216281.8	37	c.1098_1096	CCDS9967.1	14																																																																																			HSP90AA1	-	pirsf_Hsp90,pfam_Hsp90	ENSG00000080824		0.384	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	463	0.00	0	TTC	NM_005348		102551267	102551269	-1	no_errors	ENST00000334701	ensembl	human	known	69_37n	in_frame_del	190	12.39	27	DEL	0.047:0.981:0.982	-
KLHL30	377007	genome.wustl.edu	37	2	239057685	239057685	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr2:239057685G>T	ENST00000409223.1	+	7	1484	c.1377G>T	c.(1375-1377)aaG>aaT	p.K459N	KLHL30_ENST00000305959.4_Missense_Mutation_p.K441N			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	459										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCCTGCCCAAGTACCTGTCCT	0.642																																						dbGAP											0													76.0	91.0	86.0					2																	239057685		2164	4245	6409	-	-	-	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1377G>T	2.37:g.239057685G>T	ENSP00000386389:p.Lys459Asn		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K459N	ENST00000409223.1	37	c.1377	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	18.60	3.660029	0.67586	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.66460	-0.21;-0.21	4.58	4.58	0.56647	Kelch-type beta propeller (1);	0.055638	0.64402	D	0.000002	T	0.72724	0.3496	L	0.48642	1.525	0.51767	D	0.99993	D	0.76494	0.999	D	0.68353	0.957	T	0.70769	-0.4782	10	0.37606	T	0.19	.	10.5551	0.45112	0.094:0.0:0.906:0.0	.	459	Q0D2K2	KLH30_HUMAN	N	459;441	ENSP00000386389:K459N;ENSP00000302386:K441N	ENSP00000302386:K441N	K	+	3	2	KLHL30	238722424	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.016000	0.49607	2.374000	0.81015	0.561000	0.74099	AAG	KLHL30	-	pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.642	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	62	0.00	0	G	NM_198582		239057685	239057685	+1	no_errors	ENST00000409223	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	T
KRT27	342574	genome.wustl.edu	37	17	38935976	38935976	+	Silent	SNP	G	G	A			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr17:38935976G>A	ENST00000301656.3	-	4	862	c.822C>T	c.(820-822)gaC>gaT	p.D274D	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGGCCTCCGCGTCCCTGCGGT	0.647																																						dbGAP											0													38.0	37.0	37.0					17																	38935976		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.822C>T	17.37:g.38935976G>A				Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.D274	ENST00000301656.3	37	c.822	CCDS11375.1	17																																																																																			KRT27	-	pfam_F,superfamily_Prefoldin	ENSG00000171446		0.647	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	88	0.00	0	G	NM_181537		38935976	38935976	-1	no_errors	ENST00000301656	ensembl	human	known	69_37n	silent	43	24.56	14	SNP	0.018	A
L1TD1	54596	genome.wustl.edu	37	1	62673212	62673212	+	Silent	SNP	C	C	T			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr1:62673212C>T	ENST00000498273.1	+	3	1207	c.912C>T	c.(910-912)agC>agT	p.S304S		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	304										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aatttgccagccaaaaatctt	0.308																																						dbGAP											0													26.0	27.0	27.0					1																	62673212		1543	2698	4241	-	-	-	SO:0001819	synonymous_variant	0			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.912C>T	1.37:g.62673212C>T			Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.S304	ENST00000498273.1	37	c.912	CCDS619.1	1																																																																																			L1TD1	-	pfam_Transposase_22	ENSG00000240563		0.308	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1	189	0.53	1	C	NM_019079		62673212	62673212	+1	no_errors	ENST00000498273	ensembl	human	known	69_37n	silent	97	19.83	24	SNP	0.024	T
MAML2	84441	genome.wustl.edu	37	11	95825407	95825407	+	Silent	SNP	C	C	T	rs61901862		TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr11:95825407C>T	ENST00000524717.1	-	2	3072	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	596					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q596Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgtt	0.532			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	dbGAP		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	kidney(1)											28.0	35.0	33.0					11																	95825407		2119	4148	6267	-	-	-	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1788G>A	11.37:g.95825407C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q596	ENST00000524717.1	37	c.1788	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	196	0.51	1	C			95825407	95825407	-1	no_errors	ENST00000440572	ensembl	human	known	69_37n	silent	189	19.15	45	SNP	0.003	T
MTERF1	7978	genome.wustl.edu	37	7	91503433	91503433	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr7:91503433C>G	ENST00000351870.3	-	3	768	c.675G>C	c.(673-675)ttG>ttC	p.L225F	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000419292.1_Missense_Mutation_p.L205F|MTERF_ENST00000406735.2_Missense_Mutation_p.L205F	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		225					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CATTGTGACCCAATGACAAAC	0.403																																						dbGAP											0													47.0	50.0	49.0					7																	91503433		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000351870.3:c.675G>C	7.37:g.91503433C>G	ENSP00000248643:p.Leu225Phe		A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.L225F	ENST00000351870.3	37	c.675	CCDS5621.1	7	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340251	0.41398	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.12039	2.72;2.72;2.72	4.98	0.244	0.15507	.	0.095859	0.41823	D	0.000801	T	0.15132	0.0365	M	0.68952	2.095	0.35226	D	0.776485	D	0.54772	0.968	P	0.44597	0.454	T	0.26883	-1.0090	10	0.33940	T	0.23	-7.3371	8.9293	0.35661	0.0:0.5189:0.0:0.4811	.	225	Q99551	MTERF_HUMAN	F	205;225;205	ENSP00000414116:L205F;ENSP00000248643:L225F;ENSP00000384986:L205F	ENSP00000248643:L225F	L	-	3	2	MTERF	91341369	0.929000	0.31497	0.620000	0.29132	0.712000	0.41017	-0.049000	0.11924	-0.073000	0.12842	0.585000	0.79938	TTG	MTERF	-	pfam_Mit_transcrip_term-rel	ENSG00000127989		0.403	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	HGNC	protein_coding	OTTHUMT00000342896.1	139	0.00	0	C			91503433	91503433	-1	no_errors	ENST00000351870	ensembl	human	known	69_37n	missense	65	21.69	18	SNP	0.947	G
MYH7B	57644	genome.wustl.edu	37	20	33581196	33581196	+	Silent	SNP	C	C	T			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr20:33581196C>T	ENST00000262873.7	+	24	2585	c.2493C>T	c.(2491-2493)gcC>gcT	p.A831A	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	789						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCGCCTGGCCAAGGTGCTGA	0.672																																						dbGAP											0													28.0	32.0	31.0					20																	33581196		2015	4188	6203	-	-	-	SO:0001819	synonymous_variant	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2493C>T	20.37:g.33581196C>T			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A831	ENST00000262873.7	37	c.2493	CCDS42869.1	20																																																																																			MYH7B	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000078814		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	51	0.00	0	C	NM_020884		33581196	33581196	+1	no_errors	ENST00000262873	ensembl	human	novel	69_37n	silent	40	25.45	14	SNP	0.989	T
MYBL2	4605	genome.wustl.edu	37	20	42311462	42311462	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr20:42311462G>A	ENST00000217026.4	+	4	342	c.215G>A	c.(214-216)aGg>aAg	p.R72K	MYBL2_ENST00000396863.4_Missense_Mutation_p.R48K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	72	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGCCAGTACAGGTGGCTGAGA	0.522																																						dbGAP											0													229.0	222.0	225.0					20																	42311462		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.215G>A	20.37:g.42311462G>A	ENSP00000217026:p.Arg72Lys		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R72K	ENST00000217026.4	37	c.215	CCDS13322.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.625569	0.96671	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.19938	2.31;2.11	5.3	5.3	0.74995	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	T	0.79155	-0.1920	10	0.87932	D	0	-39.1379	18.1122	0.89539	0.0:0.0:1.0:0.0	.	48;72	F8W6N6;P10244	.;MYBB_HUMAN	K	48;72	ENSP00000380072:R48K;ENSP00000217026:R72K	ENSP00000217026:R72K	R	+	2	0	MYBL2	41744876	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.652000	0.98499	2.661000	0.90470	0.650000	0.86243	AGG	MYBL2	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000101057		0.522	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	HGNC	protein_coding	OTTHUMT00000080408.1	159	0.00	0	G	NM_002466		42311462	42311462	+1	no_errors	ENST00000217026	ensembl	human	known	69_37n	missense	86	32.81	42	SNP	1.000	A
NUP153	9972	genome.wustl.edu	37	6	17669532	17669532	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr6:17669532G>C	ENST00000262077.2	-	7	1005	c.1006C>G	c.(1006-1008)Ctg>Gtg	p.L336V	NUP153_ENST00000537253.1_Missense_Mutation_p.L336V	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	336					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACAGAATTCAGAGGAGAAGAA	0.333																																						dbGAP											0													51.0	56.0	54.0					6																	17669532		2202	4297	6499	-	-	-	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1006C>G	6.37:g.17669532G>C	ENSP00000262077:p.Leu336Val		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.L336V	ENST00000262077.2	37	c.1006	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249541	0.22880	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.35973	1.28;1.28	4.98	0.845	0.18950	Nucleoporin, Nup153-like (1);	0.364316	0.19778	N	0.106292	T	0.22742	0.0549	M	0.76002	2.32	0.58432	D	0.999996	B;P;B	0.42556	0.126;0.783;0.23	B;P;B	0.46796	0.082;0.527;0.065	T	0.08806	-1.0704	10	0.42905	T	0.14	-0.0137	1.5526	0.02578	0.3197:0.1297:0.4179:0.1327	.	336;358;336	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	V	336;358;336	ENSP00000262077:L336V;ENSP00000444029:L336V	ENSP00000262077:L336V	L	-	1	2	NUP153	17777511	0.000000	0.05858	0.966000	0.40874	0.988000	0.76386	-0.241000	0.08940	0.094000	0.17404	0.462000	0.41574	CTG	NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.333	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	148	0.00	0	G			17669532	17669532	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	missense	87	20.91	23	SNP	0.038	C
PAN2	9924	genome.wustl.edu	37	12	56721335	56721335	+	Silent	SNP	C	C	A			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr12:56721335C>A	ENST00000425394.2	-	6	1108	c.732G>T	c.(730-732)gtG>gtT	p.V244V	PAN2_ENST00000257931.5_Silent_p.V244V|PAN2_ENST00000548043.1_Silent_p.V244V|PAN2_ENST00000440411.3_Silent_p.V244V	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GGTTGCCATGCACATCAAAGT	0.502																																						dbGAP											0													83.0	81.0	82.0					12																	56721335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.732G>T	12.37:g.56721335C>A				Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.V244	ENST00000425394.2	37	c.732	CCDS44922.1	12																																																																																			PAN2	-	superfamily_WD40_repeat_dom	ENSG00000135473		0.502	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	97	0.00	0	C	NM_014871		56721335	56721335	-1	no_errors	ENST00000425394	ensembl	human	known	69_37n	silent	65	21.69	18	SNP	0.998	A
PHKA1	5255	genome.wustl.edu	37	X	71813106	71813106	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chrX:71813106T>A	ENST00000373542.4	-	29	3250	c.3091A>T	c.(3091-3093)Act>Tct	p.T1031S	PHKA1_ENST00000373539.3_Missense_Mutation_p.T1048S|PHKA1_ENST00000541944.1_Missense_Mutation_p.T959S|PHKA1_ENST00000373545.3_Missense_Mutation_p.T989S|PHKA1_ENST00000339490.3_Missense_Mutation_p.T1018S	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1031					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CTACTTGGAGTCATAGAGGTT	0.413																																						dbGAP											0													74.0	65.0	68.0					X																	71813106		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3091A>T	X.37:g.71813106T>A	ENSP00000362643:p.Thr1031Ser		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T1048S	ENST00000373542.4	37	c.3142	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	T	0.732	-0.779412	0.02929	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90444	-2.64;-2.66;-2.65;-2.67;-2.64	5.05	-3.18	0.05186	.	0.937877	0.08957	N	0.869182	T	0.67059	0.2853	N	0.01505	-0.83	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.61123	-0.7126	10	0.05833	T	0.94	-0.0335	4.6209	0.12449	0.2716:0.4042:0.0:0.3242	.	959;989;1018;1031	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	S	989;1031;959;1018;1048	ENSP00000362646:T989S;ENSP00000362643:T1031S;ENSP00000441251:T959S;ENSP00000342469:T1018S;ENSP00000362640:T1048S	ENSP00000342469:T1018S	T	-	1	0	PHKA1	71729831	0.000000	0.05858	0.004000	0.12327	0.924000	0.55760	-0.679000	0.05203	-1.104000	0.03015	0.481000	0.45027	ACT	PHKA1	-	NULL	ENSG00000067177		0.413	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	282	0.00	0	T			71813106	71813106	-1	no_errors	ENST00000373539	ensembl	human	known	69_37n	missense	102	28.17	40	SNP	0.000	A
PHLDB1	23187	genome.wustl.edu	37	11	118486917	118486917	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr11:118486917C>A	ENST00000361417.2	+	5	757	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	PHLDB1_ENST00000356063.5_Missense_Mutation_p.L116I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	116	FHA.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCCTACCCGGCTCACTCAGGG	0.602																																						dbGAP											0													67.0	65.0	66.0					11																	118486917		2200	4295	6495	-	-	-	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.346C>A	11.37:g.118486917C>A	ENSP00000354498:p.Leu116Ile		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L116I	ENST00000361417.2	37	c.346	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.132598	0.94473	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.76060	-0.96;-0.99	5.76	5.76	0.90799	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.141222	0.48767	D	0.000168	D	0.87022	0.6074	M	0.79614	2.46	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.993	D;D;D	0.91635	0.999;0.996;0.987	D	0.87233	0.2261	10	0.66056	D	0.02	-26.6925	18.9015	0.92444	0.0:1.0:0.0:0.0	.	116;116;116	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	I	116	ENSP00000354498:L116I;ENSP00000348359:L116I	ENSP00000348359:L116I	L	+	1	0	PHLDB1	117992127	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.256000	0.78350	2.882000	0.98803	0.655000	0.94253	CTC	PHLDB1	-	superfamily_SMAD_FHA_domain	ENSG00000019144		0.602	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	24	0.00	0	C	NM_015157		118486917	118486917	+1	no_errors	ENST00000361417	ensembl	human	known	69_37n	missense	18	29.63	8	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345K(44)		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)	CCTACGTGAATGTAAATATTC	0.308		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"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		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.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	108	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	64	20.73	17	SNP	1.000	A
PINK1	65018	genome.wustl.edu	37	1	20964471	20964471	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr1:20964471T>C	ENST00000321556.4	+	2	618	c.524T>C	c.(523-525)aTg>aCg	p.M175T		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAGCCACCATGCCTACATTG	0.592																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	dbGAP											0													91.0	86.0	87.0					1																	20964471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.524T>C	1.37:g.20964471T>C	ENSP00000364204:p.Met175Thr		Q8N6T9|Q8NBU3|Q96DE4	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.M175T	ENST00000321556.4	37	c.524	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	T	4.811	0.150783	0.09185	.	.	ENSG00000158828	ENST00000321556	T	0.73363	-0.74	5.48	3.16	0.36331	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.670270	0.17288	N	0.179765	T	0.63034	0.2477	L	0.47716	1.5	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.47736	-0.9094	10	0.22109	T	0.4	-0.3896	7.4449	0.27205	0.0:0.1738:0.0:0.8262	.	175	Q9BXM7	PINK1_HUMAN	T	175	ENSP00000364204:M175T	ENSP00000364204:M175T	M	+	2	0	PINK1	20837058	0.991000	0.36638	0.041000	0.18516	0.272000	0.26649	2.397000	0.44477	0.461000	0.27071	-0.421000	0.06004	ATG	PINK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000158828		0.592	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	86	0.00	0	T	NM_032409		20964471	20964471	+1	no_errors	ENST00000321556	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	0.297	C
POLDIP2	26073	genome.wustl.edu	37	17	26680331	26680331	+	Silent	SNP	A	A	C			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr17:26680331A>C	ENST00000540200.1	-	6	446	c.447T>G	c.(445-447)tcT>tcG	p.S149S	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	150					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTTCTGTCTGAGATCTCTGAG	0.473																																						dbGAP											0													64.0	58.0	60.0					17																	26680331		1971	4159	6130	-	-	-	SO:0001819	synonymous_variant	0			AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.447T>G	17.37:g.26680331A>C			B2R846|Q96JE4	RNA	SNP	-	NULL	ENST00000540200.1	37	NULL		17																																																																																			POLDIP2	-	-	ENSG00000004142		0.473	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	POLDIP2	HGNC	protein_coding		122	0.00	0	A	NM_015584		26680331	26680331	-1	no_errors	ENST00000003607	ensembl	human	known	69_37n	rna	84	21.50	23	SNP	0.998	C
PPP2R5D	5528	genome.wustl.edu	37	6	42976144	42976144	+	Silent	SNP	C	C	T			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr6:42976144C>T	ENST00000485511.1	+	9	1136	c.957C>T	c.(955-957)caC>caT	p.H319H	PPP2R5D_ENST00000394110.3_Silent_p.H287H|PPP2R5D_ENST00000472118.1_Silent_p.H311H|PPP2R5D_ENST00000461010.1_Silent_p.H213H	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	319					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AAGAAGAGCACAAGATGTTCC	0.488																																					Melanoma(63;587 1613 29742 31770)	dbGAP											0													141.0	120.0	127.0					6																	42976144		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.957C>T	6.37:g.42976144C>T			A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Nonsense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.Q239*	ENST00000485511.1	37	c.715	CCDS4878.1	6	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593179	0.13875	.	.	ENSG00000112640	ENST00000470467	.	.	.	6.17	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.7079	10.063	0.42286	0.0:0.7148:0.0:0.2852	.	.	.	.	X	239	.	.	Q	+	1	0	PPP2R5D	43084122	0.995000	0.38212	0.998000	0.56505	0.994000	0.84299	0.525000	0.22956	0.087000	0.17167	0.655000	0.94253	CAA	PPP2R5D	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000112640		0.488	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5D	HGNC	protein_coding	OTTHUMT00000040573.3	116	0.00	0	C	NM_006245		42976144	42976144	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000470467	ensembl	human	novel	69_37n	nonsense	75	25.00	25	SNP	1.000	T
RPGR	6103	genome.wustl.edu	37	X	38145532	38145534	+	Intron	DEL	TCC	TCC	-			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chrX:38145532_38145534delTCC	ENST00000339363.3	-	14	2688				RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_In_Frame_Del_p.906_907EE>E|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccttctccttcctcttctccct	0.591																																						dbGAP											0									,	108,2863		1,93,13,1241,288					,	0.4	0.0			6	280,4582		10,196,64,1673,1040	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	11,289,77,2914,1328	A1A1,A1R,A1,RR,R		5.7589,3.6351,4.9534	,	,		388,7445				-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+812GGA>-	X.37:g.38145532_38145534delTCC			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Del	DEL	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E907in_frame_del	ENST00000339363.3	37	c.2720_2718		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.591	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		12	0.00	0	TCC	NM_000328		38145532	38145534	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	in_frame_del	5	44.44	4	DEL	0.994:0.977:0.978	-
RTN2	6253	genome.wustl.edu	37	19	45997923	45997923	+	Silent	SNP	C	C	T			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr19:45997923C>T	ENST00000245923.4	-	3	655	c.420G>A	c.(418-420)ctG>ctA	p.L140L	PPM1N_ENST00000396737.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.L140L	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	140					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACCGAAGCCTCAGGTCTTCCA	0.667																																						dbGAP											0													51.0	59.0	56.0					19																	45997923		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.420G>A	19.37:g.45997923C>T			O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	pfam_Reticulon,pfscan_Reticulon	p.L140	ENST00000245923.4	37	c.420	CCDS12665.1	19																																																																																			RTN2	-	NULL	ENSG00000125744		0.667	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	98	0.00	0	C	NM_005619		45997923	45997923	-1	no_errors	ENST00000245923	ensembl	human	known	69_37n	silent	61	19.74	15	SNP	0.983	T
SRF	6722	genome.wustl.edu	37	6	43141698	43141698	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr6:43141698G>C	ENST00000265354.4	+	2	985	c.627G>C	c.(625-627)gaG>gaC	p.E209D	SRF_ENST00000457278.2_Missense_Mutation_p.E5D	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	209	Involved in dimerization.				angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCACCAGTGAGACCGGCAAGG	0.572																																						dbGAP											0													176.0	134.0	149.0					6																	43141698		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.627G>C	6.37:g.43141698G>C	ENSP00000265354:p.Glu209Asp		Q5T648	Missense_Mutation	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.E209D	ENST00000265354.4	37	c.627	CCDS4889.1	6	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910382	0.52439	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.84800	-1.9	5.38	1.48	0.22813	Transcription factor, MADS-box (1);	0.099894	0.64402	N	0.000002	T	0.72260	0.3438	L	0.51914	1.62	0.58432	D	0.999999	B	0.29115	0.233	B	0.38264	0.269	T	0.67933	-0.5542	10	0.62326	D	0.03	-16.1423	6.8653	0.24091	0.0653:0.2273:0.586:0.1215	.	209	P11831	SRF_HUMAN	D	209;5	ENSP00000265354:E209D	ENSP00000265354:E209D	E	+	3	2	SRF	43249676	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	2.200000	0.42724	-0.016000	0.14127	-0.254000	0.11334	GAG	SRF	-	superfamily_TF_MADSbox	ENSG00000112658		0.572	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRF	HGNC	protein_coding	OTTHUMT00000040581.1	154	0.00	0	G	NM_003131		43141698	43141698	+1	no_errors	ENST00000265354	ensembl	human	known	69_37n	missense	102	18.40	23	SNP	1.000	C
TMEM247	388946	genome.wustl.edu	37	2	46707888	46707888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr2:46707888delG	ENST00000434431.1	+	2	462	c.462delG	c.(460-462)gagfs	p.E154fs		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	154						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TGCAGCAAGAGGCGGCGCCCC	0.682																																						dbGAP											0										59,2867		9,41,1413	15.0	19.0	18.0			1.5	0.0	2	dbSNP_130	19	233,5079		9,215,2432	no	frameshift	LOC388946	NM_001145051.2		18,256,3845	A1A1,A1R,RR		4.3863,2.0164,3.5445			46707888	292,7946	690	1589	2279	-	-	-	SO:0001589	frameshift_variant	0				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.462delG	2.37:g.46707888delG	ENSP00000388684:p.Glu154fs			Frame_Shift_Del	DEL	NULL	p.A155fs	ENST00000434431.1	37	c.462	CCDS56117.1	2																																																																																			TMEM247	-	NULL	ENSG00000187600		0.682	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	TMEM247	HGNC	protein_coding	OTTHUMT00000329726.1	19	0.00	0	G	NM_001145051		46707888	46707888	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000434431	ensembl	human	known	69_37n	frame_shift_del	9	25.00	3	DEL	0.083	-
TRPM5	29850	genome.wustl.edu	37	11	2434145	2434145	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr11:2434145C>T	ENST00000155858.6	-	15	2202	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	TRPM5_ENST00000533060.1_Missense_Mutation_p.V732M|TRPM5_ENST00000528453.1_Missense_Mutation_p.V732M|TRPM5_ENST00000452833.1_Missense_Mutation_p.V734M	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AACACAGTCACGGGAGCGCCC	0.657																																					NSCLC(1;49 61 17205 18850 43201)	dbGAP											0													45.0	42.0	43.0					11																	2434145		2188	4292	6480	-	-	-	SO:0001583	missense	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2194G>A	11.37:g.2434145C>T	ENSP00000155858:p.Val732Met			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.V734M	ENST00000155858.6	37	c.2200	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553312	0.65425	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	4.12	4.12	0.48240	.	0.074828	0.52532	D	0.000064	D	0.93635	0.7967	M	0.80616	2.505	0.49915	D	0.999837	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.989	D	0.94088	0.7350	10	0.87932	D	0	-27.526	11.4903	0.50377	0.0:0.9061:0.0:0.0939	.	732;734;732	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	M	726;732;734;732;732;732	ENSP00000434383:V726M;ENSP00000155858:V732M;ENSP00000387965:V734M;ENSP00000434121:V732M;ENSP00000436809:V732M	ENSP00000155858:V732M	V	-	1	0	TRPM5	2390721	1.000000	0.71417	0.978000	0.43139	0.816000	0.46133	4.536000	0.60636	2.015000	0.59207	0.313000	0.20887	GTG	TRPM5	-	NULL	ENSG00000070985		0.657	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	15	0.00	0	C	NM_014555		2434145	2434145	-1	no_errors	ENST00000452833	ensembl	human	known	69_37n	missense	16	22.73	5	SNP	0.998	T
TTN	7273	genome.wustl.edu	37	2	179647587	179647587	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr2:179647587T>C	ENST00000591111.1	-	18	3270	c.3046A>G	c.(3046-3048)Agt>Ggt	p.S1016G	TTN_ENST00000589042.1_Missense_Mutation_p.S1016G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S1016G|TTN_ENST00000342175.6_Missense_Mutation_p.S970G|TTN_ENST00000342992.6_Missense_Mutation_p.S1016G|TTN_ENST00000359218.5_Missense_Mutation_p.S970G|TTN_ENST00000460472.2_Missense_Mutation_p.S970G			Q8WZ42	TITIN_HUMAN	titin	32569	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACAGCACTGCAAGTAAAT	0.498																																						dbGAP											0													93.0	80.0	85.0					2																	179647587		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3046A>G	2.37:g.179647587T>C	ENSP00000465570:p.Ser1016Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S1016G	ENST00000591111.1	37	c.3046		2	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418541	0.42918	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69369	0.3103	M	0.81179	2.53	0.32283	N	0.567342	B;B;B;B;P	0.35272	0.052;0.052;0.052;0.052;0.493	B;B;B;B;B	0.29942	0.055;0.055;0.055;0.055;0.109	T	0.78881	-0.2029	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	970;970;970;1016;1016	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	1016;970;970;970;970;1016	ENSP00000343764:S1016G;ENSP00000434586:S970G;ENSP00000340554:S970G;ENSP00000352154:S970G;ENSP00000354117:S1016G	ENSP00000340554:S970G	S	-	1	0	TTN	179355832	1.000000	0.71417	0.998000	0.56505	0.423000	0.31445	6.272000	0.72575	2.371000	0.80710	0.533000	0.62120	AGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.498	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	87	0.00	0	T	NM_133378		179647587	179647587	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	1.000	C
ZNF208	7757	genome.wustl.edu	37	19	22170078	22170078	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BF-01A-21D-A12Q-09	TCGA-BH-A0BF-11A-31D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39221056-704b-4a23-9b8d-3178dd9e790d	df0f49fe-e68c-42d3-8dbf-fc08672ac4fb	g.chr19:22170078G>C	ENST00000397126.4	-	3	314	c.166C>G	c.(166-168)Ctg>Gtg	p.L56V	ZNF208_ENST00000597040.1_Missense_Mutation_p.L24V|ZNF208_ENST00000599916.1_Missense_Mutation_p.L56V|ZNF208_ENST00000601773.1_Missense_Mutation_p.L56V	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTTCCTCCAGAAAAATGATC	0.408																																						dbGAP											0													74.0	76.0	75.0					19																	22170078		2192	4298	6490	-	-	-	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.166C>G	19.37:g.22170078G>C	ENSP00000380315:p.Leu56Val			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.L56V	ENST00000397126.4	37	c.166	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	G	7.252	0.603417	0.14002	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.00958	5.5	0.207	0.207	0.15214	Krueppel-associated box (3);	.	.	.	.	T	0.01489	0.0048	.	.	.	0.09310	N	1	D;B	0.61697	0.99;0.383	P;B	0.51615	0.675;0.237	T	0.54417	-0.8297	7	0.33940	T	0.23	.	.	.	.	.	56;56	O43345;F8WEA0	ZN208_HUMAN;.	V	56	ENSP00000380315:L56V	ENSP00000380315:L56V	L	-	1	2	ZNF208	21961918	0.029000	0.19370	0.007000	0.13788	0.007000	0.05969	-0.055000	0.11807	0.284000	0.22305	0.289000	0.19496	CTG	ZNF208	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000160321		0.408	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	637	0.00	0	G	NM_007153		22170078	22170078	-1	no_errors	ENST00000397126	ensembl	human	known	69_37n	missense	184	18.94	43	SNP	0.007	C
