#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AKAP7	9465	genome.wustl.edu	37	6	131602771	131602771	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr6:131602771G>A	ENST00000431975.2	+	8	1050	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	AKAP7_ENST00000263050.3_Missense_Mutation_p.E54K|AKAP7_ENST00000368123.4_Missense_Mutation_p.E296K|AKAP7_ENST00000474850.2_Missense_Mutation_p.E74K|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000342266.4_Missense_Mutation_p.E51K	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	318	PKA-RII-alpha subunit binding domain. {ECO:0000250}.|RI-alpha-binding. {ECO:0000250}.					cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GTATCTGGAGGAAACACAGAA	0.522																																						dbGAP											0													48.0	52.0	50.0					6																	131602771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.952G>A	6.37:g.131602771G>A	ENSP00000405252:p.Glu318Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUC3|Q9HCZ8	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.E296K	ENST00000431975.2	37	c.886	CCDS5142.2	6	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690946	0.88735	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.59638	0.25;0.31	5.97	5.97	0.96955	Protein kinase A anchor protein, RI-RII subunit-binding domain (2);	0.178633	0.47455	D	0.000225	T	0.62804	0.2458	L	0.29908	0.895	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.65857	-0.6066	10	0.87932	D	0	8.0E-4	19.4161	0.94700	0.0:0.0:1.0:0.0	.	51;74;318	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	K	318;296;54;51;74	ENSP00000405252:E318K;ENSP00000357105:E296K	ENSP00000263050:E54K	E	+	1	0	AKAP7	131644464	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.539000	0.82063	2.837000	0.97791	0.655000	0.94253	GAA	AKAP7	-	pfam_Kinase-A_anchor_RI-RII-bd_dom	ENSG00000118507		0.522	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	HGNC	protein_coding	OTTHUMT00000042209.2	34	0.00	0	G	NM_004842		131602771	131602771	+1	no_errors	ENST00000368123	ensembl	human	known	69_37n	missense	18	47.06	16	SNP	1.000	A
AKR1CL1	340811	genome.wustl.edu	37	10	5200861	5200861	+	IGR	SNP	C	C	A	rs2020172	byFrequency	TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr10:5200861C>A	ENST00000334314.3	-	0	492				AKR1CL1_ENST00000465430.1_Intron			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1							cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTTGGACTTGCAGAACTCCAG	0.448													C|||	864	0.172524	0.1732	0.183	5008	,	,		17338	0.0		0.3579	False		,,,				2504	0.1513				Ovarian(129;1623 1737 25446 28757 47467)	dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213		10.37:g.5200861C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF66|Q6ZN81	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.C34F	ENST00000334314.3	37	c.101		10	440	0.20146520146520147	99	0.20121951219512196	81	0.22375690607734808	0	0.0	260	0.34300791556728233	C	19.60	3.858582	0.71834	.	.	ENSG00000196326	ENST00000473890	T	0.28454	1.61	3.73	3.73	0.42828	.	0.000000	0.64402	U	0.000012	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.31752	-0.9932	6	0.87932	D	0	.	13.7685	0.63010	0.0:1.0:0.0:0.0	rs2020172;rs2020172	.	.	.	F	34	ENSP00000417959:C34F	ENSP00000417959:C34F	C	-	2	0	AKR1CL1	5190861	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	3.694000	0.54742	2.014000	0.59158	0.484000	0.47621	TGC	AKR1CL1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000196326		0.448	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	AKR1CL1	HGNC	protein_coding		10	0.00	0	C	NR_027916		5200861	5200861	-1	no_errors	ENST00000473890	ensembl	human	novel	69_37n	missense	4	55.56	5	SNP	1.000	A
CP	1356	genome.wustl.edu	37	3	148930428	148930428	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr3:148930428C>A	ENST00000264613.6	-	2	466	c.204G>T	c.(202-204)aaG>aaT	p.K68N		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	68	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AAAGGGCCTTCTTATATAGTC	0.388																																						dbGAP											0													76.0	75.0	76.0					3																	148930428		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.204G>T	3.37:g.148930428C>A	ENSP00000264613:p.Lys68Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.K68N	ENST00000264613.6	37	c.204	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699029	0.48307	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.99105	-5.18;-5.43	5.42	1.43	0.22495	Cupredoxin (2);	0.098401	0.64402	N	0.000002	D	0.97396	0.9148	M	0.86651	2.83	0.54753	D	0.999986	B;P	0.42908	0.437;0.793	B;B	0.32864	0.072;0.154	D	0.93759	0.7065	10	0.87932	D	0	-21.8618	5.3477	0.16018	0.1304:0.5777:0.0:0.2918	.	68;68	A8K5A4;P00450	.;CERU_HUMAN	N	68;108	ENSP00000264613:K68N;ENSP00000426888:K108N	ENSP00000264613:K68N	K	-	3	2	CP	150413118	1.000000	0.71417	0.986000	0.45419	0.885000	0.51271	1.071000	0.30666	0.074000	0.16767	0.563000	0.77884	AAG	CP	-	superfamily_Cupredoxin	ENSG00000047457		0.388	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	37	0.00	0	C	NM_000096		148930428	148930428	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	1.000	A
CPE	1363	genome.wustl.edu	37	4	166403460	166403460	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr4:166403460C>T	ENST00000402744.4	+	4	1019	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	247					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCTGCCAATCTCCATGGAGG	0.398																																						dbGAP											0													169.0	149.0	156.0					4																	166403460		2203	4300	6503	-	-	-	SO:0001583	missense	0			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.739C>T	4.37:g.166403460C>T	ENSP00000386104:p.Leu247Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.L247F	ENST00000402744.4	37	c.739	CCDS3810.1	4	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717204	0.68844	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.33792	1.035	0.80722	D	1	P	0.39116	0.66	B	0.42995	0.404	T	0.01195	-1.1422	10	0.51188	T	0.08	-17.9402	19.2266	0.93820	0.0:1.0:0.0:0.0	.	247	P16870	CBPE_HUMAN	F	135;247;211;135;135	ENSP00000424830:L135F;ENSP00000386104:L247F;ENSP00000416601:L135F;ENSP00000423699:L135F	ENSP00000261510:L211F	L	+	1	0	CPE	166622910	1.000000	0.71417	0.999000	0.59377	0.380000	0.30137	4.539000	0.60657	2.531000	0.85337	0.650000	0.86243	CTC	CPE	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	ENSG00000109472		0.398	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPE	HGNC	protein_coding	OTTHUMT00000317094.2	77	0.00	0	C	NM_001873		166403460	166403460	+1	no_errors	ENST00000402744	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	T
EEF1A1	1915	genome.wustl.edu	37	6	74229730	74229730	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr6:74229730T>C	ENST00000316292.9	-	1	1011	c.20A>G	c.(19-21)cAt>cGt	p.H7R	EEF1A1_ENST00000331523.2_Missense_Mutation_p.H7R|EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.H7R	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	7	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						AATGTTGATATGAGTCTTTTC	0.423																																						dbGAP											0													48.0	49.0	49.0					6																	74229730		2203	4287	6490	-	-	-	SO:0001583	missense	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.20A>G	6.37:g.74229730T>C	ENSP00000339063:p.His7Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	p.H7R	ENST00000316292.9	37	c.20	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178979	0.57692	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.78123	0.4234	M	0.82923	2.615	0.80722	D	1	B;B;B;B;P	0.37914	0.166;0.362;0.362;0.362;0.611	B;P;P;P;P	0.53809	0.211;0.533;0.533;0.533;0.735	T	0.82354	-0.0499	10	0.87932	D	0	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	7;7;7;7;7	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	R	7	ENSP00000339063:H7R;ENSP00000339053:H7R;ENSP00000330054:H7R;ENSP00000348651:H7R;ENSP00000392366:H7R	ENSP00000339053:H7R	H	-	2	0	EEF1A1	74286451	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	7.715000	0.84713	1.874000	0.54306	0.454000	0.30748	CAT	EEF1A1	-	pfam_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000156508		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	34	0.00	0	T	NM_001402		74229730	74229730	-1	no_errors	ENST00000309268	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	1.000	C
HMCN1	83872	genome.wustl.edu	37	1	185962313	185962313	+	Splice_Site	SNP	G	G	C			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr1:185962313G>C	ENST00000271588.4	+	23	3606		c.e23-1		HMCN1_ENST00000367492.2_Splice_Site|HMCN1_ENST00000485744.1_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTCTTTTAGACACACATTC	0.393																																						dbGAP											0													144.0	138.0	140.0					1																	185962313		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3378-1G>C	1.37:g.185962313G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	-	e23-1	ENST00000271588.4	37	c.3378-1	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177721	0.78564	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184228936	1.000000	0.71417	0.999000	0.59377	0.754000	0.42855	9.126000	0.94411	2.826000	0.97356	0.655000	0.94253	.	HMCN1	-	-	ENSG00000143341		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	91	0.00	0	G	NM_031935	Intron	185962313	185962313	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	splice_site	104	20.00	26	SNP	1.000	C
ENAH	55740	genome.wustl.edu	37	1	225707102	225707102	+	Silent	SNP	C	C	T			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr1:225707102C>T	ENST00000366844.3	-	5	1051	c.600G>A	c.(598-600)cgG>cgA	p.R200R	ENAH_ENST00000366843.2_Silent_p.R200R|ENAH_ENST00000284563.6_Silent_p.R219R|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	200	9 X 5 AA tandem repeats of [LMQ]-E-[QR]- E-[QR].				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ggcgttcctgccgttccCGTT	0.577																																						dbGAP											0													71.0	63.0	66.0					1																	225707102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.600G>A	1.37:g.225707102C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.R200	ENST00000366844.3	37	c.600	CCDS31041.1	1																																																																																			ENAH	-	NULL	ENSG00000154380		0.577	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	73	0.00	0	C	NM_018212		225707102	225707102	-1	no_errors	ENST00000366844	ensembl	human	known	69_37n	silent	94	29.10	39	SNP	0.028	T
KCNK13	56659	genome.wustl.edu	37	14	90650606	90650606	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr14:90650606G>T	ENST00000282146.4	+	2	927	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	162					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGTGCCACCAGCGGCAGCTCC	0.612																																						dbGAP											0													78.0	81.0	80.0					14																	90650606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.486G>T	14.37:g.90650606G>T	ENSP00000282146:p.Gln162His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.Q162H	ENST00000282146.4	37	c.486	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600623	0.46423	.	.	ENSG00000152315	ENST00000282146	T	0.24151	1.87	5.31	4.41	0.53225	.	0.686589	0.11389	N	0.569071	T	0.24509	0.0594	L	0.44542	1.39	0.38647	D	0.951759	B	0.02656	0.0	B	0.06405	0.002	T	0.04347	-1.0958	10	0.51188	T	0.08	.	11.1533	0.48473	0.0715:0.1289:0.7996:0.0	.	162	Q9HB14	KCNKD_HUMAN	H	162	ENSP00000282146:Q162H	ENSP00000282146:Q162H	Q	+	3	2	KCNK13	89720359	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.225000	0.42954	1.214000	0.43395	0.655000	0.94253	CAG	KCNK13	-	NULL	ENSG00000152315		0.612	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1	50	0.00	0	G	NM_022054		90650606	90650606	+1	no_errors	ENST00000282146	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	1.000	T
KCNK9	51305	genome.wustl.edu	37	8	140715207	140715207	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr8:140715207G>A	ENST00000520439.1	-	1	92	c.29C>T	c.(28-30)tCc>tTc	p.S10F	KCNK9_ENST00000303015.1_Missense_Mutation_p.S10F	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	10					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GACGATGAGGGACAGAGTCCG	0.682																																						dbGAP											0													43.0	37.0	39.0					8																	140715207		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.29C>T	8.37:g.140715207G>A	ENSP00000430676:p.Ser10Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.S10F	ENST00000520439.1	37	c.29	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393558	0.62066	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.22945	1.93;1.93;1.93	3.94	3.94	0.45596	.	0.150168	0.45867	D	0.000332	T	0.25754	0.0627	M	0.64080	1.96	0.80722	D	1	B	0.15930	0.015	B	0.18263	0.021	T	0.10019	-1.0648	10	0.09338	T	0.73	.	15.2999	0.73940	0.0:0.0:1.0:0.0	.	10	Q9NPC2	KCNK9_HUMAN	F	10	ENSP00000429847:S10F;ENSP00000302166:S10F;ENSP00000430676:S10F	ENSP00000302166:S10F	S	-	2	0	KCNK9	140784389	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.415000	0.80131	1.876000	0.54355	0.555000	0.69702	TCC	KCNK9	-	pirsf_2pore_dom_K_chnl_TASK/TWIK	ENSG00000169427		0.682	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	12	0.00	0	G	NM_016601		140715207	140715207	-1	no_errors	ENST00000303015	ensembl	human	known	69_37n	missense	8	35.71	5	SNP	1.000	A
KIAA1147	57189	genome.wustl.edu	37	7	141365078	141365078	+	Silent	SNP	G	G	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr7:141365078G>A	ENST00000536163.1	-	6	860	c.861C>T	c.(859-861)ggC>ggT	p.G287G	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Silent_p.G183G	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	287										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TGCCCCCGATGCCAGGCAGTG	0.597																																						dbGAP											0													69.0	76.0	74.0					7																	141365078		2138	4228	6366	-	-	-	SO:0001819	synonymous_variant	0			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.861C>T	7.37:g.141365078G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULS3	Silent	SNP	pfam_DUF2347	p.G287	ENST00000536163.1	37	c.861	CCDS47726.1	7																																																																																			KIAA1147	-	pfam_DUF2347	ENSG00000257093		0.597	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1147	HGNC	protein_coding	OTTHUMT00000349104.1	39	0.00	0	G			141365078	141365078	-1	no_errors	ENST00000536163	ensembl	human	known	69_37n	silent	25	35.90	14	SNP	0.996	A
MCTP1	79772	genome.wustl.edu	37	5	94289001	94289001	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr5:94289001T>C	ENST00000515393.1	-	3	902	c.903A>G	c.(901-903)atA>atG	p.I301M	MCTP1_ENST00000429576.2_Missense_Mutation_p.I80M|MCTP1_ENST00000312216.8_Missense_Mutation_p.I80M|MCTP1_ENST00000505208.1_Missense_Mutation_p.I80M	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	301	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGTTCTTGTGTATTATCTTAC	0.343																																						dbGAP											0													123.0	111.0	115.0					5																	94289001		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.903A>G	5.37:g.94289001T>C	ENSP00000424126:p.Ile301Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.I301M	ENST00000515393.1	37	c.903	CCDS34203.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.24|17.24	3.338420|3.338420	0.60963|0.60963	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000415885;ENST00000507214;ENST00000514780;ENST00000510732;ENST00000505465|ENST00000503301	T;T;T;T;T;T;T;T;T|.	0.71698|.	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;0.82;-0.59|.	5.58|5.58	4.4|4.4	0.53042|0.53042	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73249|0.73249	0.3563|0.3563	M|M	0.84511|0.84511	2.7|2.7	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.69078|.	0.993;0.997;0.973|.	D;D;P|.	0.72625|.	0.978;0.943;0.805|.	T|T	0.73084|0.73084	-0.4094|-0.4094	10|5	0.56958|.	D|.	0.05|.	-11.6057|-11.6057	7.4199|7.4199	0.27065|0.27065	0.1318:0.0:0.2906:0.5776|0.1318:0.0:0.2906:0.5776	.|.	301;80;80|.	Q6DN14;Q6DN14-3;Q6DN14-2|.	MCTP1_HUMAN;.;.|.	M|A	301;80;80;80;80;42;62;61;95;80|110	ENSP00000424126:I301M;ENSP00000391639:I80M;ENSP00000308957:I80M;ENSP00000423410:I80M;ENSP00000426438:I80M;ENSP00000424936:I62M;ENSP00000421543:I61M;ENSP00000422219:I95M;ENSP00000422317:I80M|.	ENSP00000308957:I80M|.	I|T	-|-	3|1	3|0	MCTP1|MCTP1	94314757|94314757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.642000|1.642000	0.37207|0.37207	0.927000|0.927000	0.37143|0.37143	0.377000|0.377000	0.23210|0.23210	ATA|ACA	MCTP1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000175471		0.343	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3	80	0.00	0	T	NM_024717		94289001	94289001	-1	no_errors	ENST00000515393	ensembl	human	known	69_37n	missense	66	21.43	18	SNP	0.999	C
MED23	9439	genome.wustl.edu	37	6	131921249	131921249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr6:131921249G>A	ENST00000368068.3	-	18	2328	c.2149C>T	c.(2149-2151)Cag>Tag	p.Q717*	MED23_ENST00000354577.4_Nonsense_Mutation_p.Q723*|MED23_ENST00000368058.1_Nonsense_Mutation_p.Q723*|MED23_ENST00000403834.3_Nonsense_Mutation_p.Q723*|MED23_ENST00000540546.1_Nonsense_Mutation_p.Q723*|MED23_ENST00000545957.1_Nonsense_Mutation_p.Q358*|MED23_ENST00000368060.3_Nonsense_Mutation_p.Q717*|MED23_ENST00000368053.4_Nonsense_Mutation_p.Q723*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	717					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATGATGGTCTGAAGTATGTCT	0.358																																						dbGAP											0													99.0	97.0	98.0					6																	131921249		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2149C>T	6.37:g.131921249G>A	ENSP00000357047:p.Gln717*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	pfam_Mediator_Med23	p.Q723*	ENST00000368068.3	37	c.2167	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.105816	0.97286	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	.	.	.	5.69	5.69	0.88448	.	0.052006	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-1.9897	19.821	0.96592	0.0:0.0:1.0:0.0	.	.	.	.	X	723;717;723;717;106;723;358;723;723	.	ENSP00000346588:Q723X	Q	-	1	0	MED23	131962942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.683000	0.91414	0.655000	0.94253	CAG	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.358	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	43	0.00	0	G			131921249	131921249	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	nonsense	13	56.67	17	SNP	1.000	A
NCAM2	4685	genome.wustl.edu	37	21	22881175	22881175	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr21:22881175C>T	ENST00000400546.1	+	16	2330	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M	NCAM2_ENST00000284894.7_Missense_Mutation_p.T552M	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	694					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T694M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ttttAAGACACGCTGTTTAAT	0.308																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											63.0	54.0	57.0					21																	22881175		1868	4093	5961	-	-	-	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2081C>T	21.37:g.22881175C>T	ENSP00000383392:p.Thr694Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.T694M	ENST00000400546.1	37	c.2081	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790952	0.50102	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.60797	0.16;0.24	4.98	4.98	0.66077	.	0.047904	0.85682	D	0.000000	T	0.54919	0.1888	N	0.22421	0.69	0.80722	D	1	D;D	0.67145	0.99;0.996	P;P	0.50490	0.572;0.642	T	0.61691	-0.7011	10	0.87932	D	0	-23.2999	17.699	0.88289	0.0:1.0:0.0:0.0	.	552;694	B7Z5K2;O15394	.;NCAM2_HUMAN	M	694;552	ENSP00000383392:T694M;ENSP00000284894:T552M	ENSP00000284894:T552M	T	+	2	0	NCAM2	21803046	0.997000	0.39634	0.998000	0.56505	0.477000	0.33069	3.610000	0.54125	2.689000	0.91719	0.643000	0.83706	ACG	NCAM2	-	NULL	ENSG00000154654		0.308	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	32	0.00	0	C	NM_004540		22881175	22881175	+1	no_errors	ENST00000400546	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	T
NRXN2	9379	genome.wustl.edu	37	11	64457918	64457919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr11:64457918_64457919insC	ENST00000377551.1	-	4	1019_1020	c.808_809insG	c.(808-810)gccfs	p.A270fs	NRXN2_ENST00000265459.6_Frame_Shift_Ins_p.A270fs|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.A270fs			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTCTCCCGGCCCCCCCCTCG	0.634																																						dbGAP											1	Insertion - Frameshift(1)	central_nervous_system(1)							,	56,4208		0,56,2076					,	4.6	1.0			37	73,8181		0,73,4054	no	intron,frameshift	NRXN2	NM_138732.2,NM_015080.3	,	0,129,6130	A1A1,A1R,RR		0.8844,1.3133,1.0305	,	,		129,12389				-	-	-	SO:0001589	frameshift_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.809dupG	11.37:g.64457926_64457926dupC	ENSP00000366774:p.Ala270fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C1|Q9Y2D6	Frame_Shift_Ins	INS	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A270fs	ENST00000377551.1	37	c.809_808	CCDS8077.1	11																																																																																			NRXN2	-	NULL	ENSG00000110076		0.634	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	26	0.00	0	-	NM_015080		64457918	64457919	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	frame_shift_ins	16	20.00	4	INS	1.000:1.000	C
OR1J1	347168	genome.wustl.edu	37	9	125240172	125240172	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr9:125240172A>G	ENST00000259357.2	-	1	63	c.34T>C	c.(34-36)Ttc>Ctc	p.F12L	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGAGGAGGAACTCGGACACG	0.542																																						dbGAP											0													104.0	106.0	105.0					9																	125240172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.34T>C	9.37:g.125240172A>G	ENSP00000259357:p.Phe12Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F12L	ENST00000259357.2	37	c.34	CCDS35120.1	9	.	.	.	.	.	.	.	.	.	.	A	17.13	3.312019	0.60414	.	.	ENSG00000136834	ENST00000259357	T	0.04454	3.62	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000009	T	0.25531	0.0621	M	0.88906	2.99	0.40376	D	0.97939	D	0.89917	1.0	D	0.91635	0.999	T	0.08289	-1.0729	10	0.72032	D	0.01	.	13.5237	0.61582	1.0:0.0:0.0:0.0	.	12	Q8NGS3	OR1J1_HUMAN	L	12	ENSP00000259357:F12L	ENSP00000259357:F12L	F	-	1	0	OR1J1	124279993	0.999000	0.42202	0.931000	0.37212	0.562000	0.35680	6.247000	0.72411	2.105000	0.64084	0.433000	0.28618	TTC	OR1J1	-	NULL	ENSG00000136834		0.542	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	50	0.00	0	A			125240172	125240172	-1	no_errors	ENST00000259357	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	0.998	G
OR8A1	390275	genome.wustl.edu	37	11	124440230	124440230	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr11:124440230G>A	ENST00000284287.3	+	1	338	c.266G>A	c.(265-267)tGc>tAc	p.C89Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	89					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ATGGATCTCTGCTACTCCTCC	0.478																																						dbGAP											0													190.0	172.0	178.0					11																	124440230		2201	4299	6500	-	-	-	SO:0001583	missense	0			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.266G>A	11.37:g.124440230G>A	ENSP00000284287:p.Cys89Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEW7|Q96RC6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.C89Y	ENST00000284287.3	37	c.266	CCDS31712.1	11	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874981	0.51695	.	.	ENSG00000196119	ENST00000284287	T	0.01981	4.52	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.15435	0.0372	M	0.92555	3.32	0.37606	D	0.920742	D	0.67145	0.996	D	0.65010	0.931	T	0.02059	-1.1221	10	0.87932	D	0	.	12.9757	0.58537	0.0:0.0:0.8382:0.1617	.	89	Q8NGG7	OR8A1_HUMAN	Y	89	ENSP00000284287:C89Y	ENSP00000284287:C89Y	C	+	2	0	OR8A1	123945440	0.744000	0.28250	1.000000	0.80357	0.904000	0.53231	4.505000	0.60421	2.549000	0.85964	0.585000	0.79938	TGC	OR8A1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196119		0.478	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	HGNC	protein_coding	OTTHUMT00000387062.1	72	0.00	0	G	NM_001005194		124440230	124440230	+1	no_errors	ENST00000284287	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	0.999	A
PCDHGA11	56105	genome.wustl.edu	37	5	140801420	140801420	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr5:140801420A>G	ENST00000398587.2	+	1	659	c.626A>G	c.(625-627)cAc>cGc	p.H209R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.H209R|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCTGCTCACCTGCTCCTC	0.532																																						dbGAP											0													46.0	52.0	50.0					5																	140801420		2054	4210	6264	-	-	-	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.626A>G	5.37:g.140801420A>G	ENSP00000381589:p.His209Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H209R	ENST00000398587.2	37	c.626	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	a	15.13	2.740935	0.49151	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.20881	2.04;2.04	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	0.368803	0.13591	U	0.376566	T	0.61702	0.2368	H	0.98155	4.16	0.09310	N	1	D;D;D	0.69078	0.975;0.995;0.997	P;D;D	0.71184	0.781;0.965;0.972	T	0.66040	-0.6022	10	0.56958	D	0.05	.	11.3222	0.49428	0.8642:0.0:0.0:0.1358	.	209;209;209	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	R	209	ENSP00000381589:H209R;ENSP00000428333:H209R	ENSP00000381589:H209R	H	+	2	0	PCDHGA11	140781604	0.010000	0.17322	0.775000	0.31657	0.996000	0.88848	1.668000	0.37481	2.304000	0.77564	0.528000	0.53228	CAC	PCDHGA11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.532	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	16	0.00	0	A	NM_018914		140801420	140801420	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.138	G
PCNX	22990	genome.wustl.edu	37	14	71445273	71445273	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr14:71445273C>A	ENST00000304743.2	+	6	2665	c.2219C>A	c.(2218-2220)gCt>gAt	p.A740D	PCNX_ENST00000439984.3_Missense_Mutation_p.A740D|PCNX_ENST00000238570.5_Missense_Mutation_p.A740D	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	740						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTAGGACGGGCTTCCCAGTTA	0.453																																						dbGAP											0													80.0	78.0	79.0					14																	71445273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2219C>A	14.37:g.71445273C>A	ENSP00000304192:p.Ala740Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.A740D	ENST00000304743.2	37	c.2219	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128540	0.56721	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.13538	3.3;3.29;2.58	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.01743	-1.1283	10	0.16420	T	0.52	.	19.5295	0.95223	0.0:1.0:0.0:0.0	.	740;740;740	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	D	740	ENSP00000304192:A740D;ENSP00000238570:A740D;ENSP00000396617:A740D	ENSP00000238570:A740D	A	+	2	0	PCNX	70515026	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.294000	0.78760	2.612000	0.88384	0.655000	0.94253	GCT	PCNX	-	NULL	ENSG00000100731		0.453	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	29	0.00	0	C	NM_014982		71445273	71445273	+1	no_errors	ENST00000304743	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	54	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	23	41.03	16	SNP	1.000	G
PLXNA4	91584	genome.wustl.edu	37	7	132169630	132169630	+	Intron	SNP	T	T	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr7:132169630T>A	ENST00000359827.3	-	3	2334				PLXNA4_ENST00000378539.5_Missense_Mutation_p.Q505L|PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000321063.4_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGGACTCTCTGATCTGATAT	0.413																																						dbGAP											0													106.0	101.0	103.0					7																	132169630		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1371+4420A>T	7.37:g.132169630T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.Q505L	ENST00000359827.3	37	c.1514	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028144	0.35797	.	.	ENSG00000221866	ENST00000378539	T	0.02421	4.3	3.16	0.555	0.17247	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47289	-0.9129	9	0.37606	T	0.19	.	5.6453	0.17586	0.4744:0.0:0.0:0.5256	.	505	A4D1N6	.	L	505	ENSP00000367800:Q505L	ENSP00000367800:Q505L	Q	-	2	0	PLXNA4	131820170	0.061000	0.20836	0.002000	0.10522	0.816000	0.46133	0.163000	0.16520	0.103000	0.17682	0.459000	0.35465	CAG	PLXNA4	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000221866		0.413	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	39	0.00	0	T	NM_181775		132169630	132169630	-1	no_errors	ENST00000378539	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.003	A
RNF6	6049	genome.wustl.edu	37	13	26788550	26788550	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr13:26788550C>T	ENST00000381588.4	-	5	2221	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	RNF6_ENST00000399762.2_Missense_Mutation_p.G134E|RNF6_ENST00000346166.3_Missense_Mutation_p.G490E|RNF6_ENST00000381570.3_Missense_Mutation_p.G490E|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	490					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCTCCAAACCCAGTCATGAT	0.433																																						dbGAP											0													78.0	75.0	76.0					13																	26788550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1469G>A	13.37:g.26788550C>T	ENSP00000371000:p.Gly490Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G490E	ENST00000381588.4	37	c.1469	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046316	0.75846	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.19806	2.58;2.58;2.58;2.12	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.53121	-0.8483	10	0.87932	D	0	-27.1958	18.0633	0.89383	0.0:1.0:0.0:0.0	.	134;490	B4DDP0;Q9Y252	.;RNF6_HUMAN	E	490;490;490;134	ENSP00000342121:G490E;ENSP00000371000:G490E;ENSP00000370982:G490E;ENSP00000382665:G134E	ENSP00000342121:G490E	G	-	2	0	RNF6	25686550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.101000	0.76997	2.569000	0.86673	0.557000	0.71058	GGG	RNF6	-	NULL	ENSG00000127870		0.433	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	45	0.00	0	C	NM_005977		26788550	26788550	-1	no_errors	ENST00000346166	ensembl	human	known	69_37n	missense	28	46.15	24	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179446724	179446724	+	Silent	SNP	G	G	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr2:179446724G>A	ENST00000591111.1	-	265	61673	c.61449C>T	c.(61447-61449)acC>acT	p.T20483T	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.T13059T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T13251T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.T22124T|TTN_ENST00000342992.6_Silent_p.T19556T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.T13184T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20483	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ACTCATATTCGGTACCTTCTT	0.448																																						dbGAP											0													136.0	132.0	133.0					2																	179446724		1880	4111	5991	-	-	-	SO:0001819	synonymous_variant	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.61449C>T	2.37:g.179446724G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	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	Silent	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.T19556	ENST00000591111.1	37	c.58668		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	48	0.00	0	G	NM_133378		179446724	179446724	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	31	35.42	17	SNP	0.045	A
TTN	7273	genome.wustl.edu	37	2	179465819	179465819	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr2:179465819C>A	ENST00000591111.1	-	238	51113	c.50889G>T	c.(50887-50889)aaG>aaT	p.K16963N	TTN_ENST00000460472.2_Missense_Mutation_p.K9539N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K9731N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K18604N|TTN_ENST00000342992.6_Missense_Mutation_p.K16036N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K9664N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16963	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CCCCATCATTCTTCGGGGGTT	0.463																																						dbGAP											0													70.0	70.0	70.0					2																	179465819		1891	4119	6010	-	-	-	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.50889G>T	2.37:g.179465819C>A	ENSP00000465570:p.Lys16963Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	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.K16036N	ENST00000591111.1	37	c.48108		2	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097894	0.20552	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.65	2.85	0.33270	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47340	0.1440	L	0.48642	1.525	0.43308	D	0.995314	P;P;P;P	0.46784	0.467;0.467;0.467;0.884	B;B;B;B	0.38985	0.178;0.178;0.178;0.287	T	0.50701	-0.8797	9	0.87932	D	0	.	9.8143	0.40842	0.0:0.7234:0.0:0.2766	.	9539;9664;9731;16963	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	16036;9539;9731;9664;9539	ENSP00000343764:K16036N;ENSP00000434586:K9539N;ENSP00000340554:K9731N;ENSP00000352154:K9664N	ENSP00000340554:K9731N	K	-	3	2	TTN	179174064	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.891000	0.28309	0.856000	0.35383	-0.251000	0.11542	AAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	29	0.00	0	C	NM_133378		179465819	179465819	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	A
WDR4	10785	genome.wustl.edu	37	21	44282454	44282454	+	Missense_Mutation	SNP	C	C	A	rs372184333		TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr21:44282454C>A	ENST00000398208.2	-	5	563	c.504G>T	c.(502-504)aaG>aaT	p.K168N	WDR4_ENST00000330317.2_Missense_Mutation_p.K168N|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TGACTCGGATCTTCTCGTCCC	0.607																																						dbGAP											0													38.0	34.0	35.0					21																	44282454		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.504G>T	21.37:g.44282454C>A	ENSP00000381266:p.Lys168Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K168N	ENST00000398208.2	37	c.504	CCDS13691.1	21	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961016	0.74016	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.29917	1.55;1.55	4.91	2.01	0.26516	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	H	0.94264	3.515	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65417	-0.6173	10	0.54805	T	0.06	-35.0972	9.2237	0.37393	0.0:0.7408:0.0:0.2592	.	168;168	P57081-2;P57081	.;WDR4_HUMAN	N	168	ENSP00000328671:K168N;ENSP00000381266:K168N	ENSP00000328671:K168N	K	-	3	2	WDR4	43155523	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.831000	0.48144	0.585000	0.29608	0.467000	0.42956	AAG	WDR4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000160193		0.607	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	11	0.00	0	C			44282454	44282454	-1	no_errors	ENST00000330317	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	A
ZNF473	25888	genome.wustl.edu	37	19	50548576	50548576	+	Silent	SNP	T	T	C			TCGA-A2-A25C-01A-11D-A167-09	TCGA-A2-A25C-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2411fc4a-c0d7-4a60-a861-f4d954ef1ed5	68b035a9-7582-43b2-9a33-cda050ee234f	g.chr19:50548576T>C	ENST00000595661.1	+	6	1371	c.876T>C	c.(874-876)tgT>tgC	p.C292C	ZNF473_ENST00000445728.3_Silent_p.C280C|ZNF473_ENST00000391821.2_Silent_p.C292C|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Silent_p.C292C|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	292					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAAAACCATGTAAGAGTCAAG	0.433																																						dbGAP											0													89.0	92.0	91.0					19																	50548576		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.876T>C	19.37:g.50548576T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C292	ENST00000595661.1	37	c.876	CCDS33077.1	19																																																																																			ZNF473	-	NULL	ENSG00000142528		0.433	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	27	0.00	0	T	XM_046390		50548576	50548576	+1	no_errors	ENST00000270617	ensembl	human	known	69_37n	silent	16	44.83	13	SNP	0.000	C
