#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
ADAMTS13	11093	genome.wustl.edu	37	9	136291344	136291344	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr9:136291344A>T	ENST00000371929.3	+	6	1009	c.565A>T	c.(565-567)Aac>Tac	p.N189Y	ADAMTS13_ENST00000371911.3_Missense_Mutation_p.N189Y|ADAMTS13_ENST00000371916.1_Missense_Mutation_p.N189Y|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.N189Y|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.N189Y|ADAMTS13_ENST00000536611.1_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	189	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCTGATGGTAACCGGCAGGT	0.627																																						dbGAP											0													77.0	70.0	73.0					9																	136291344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.565A>T	9.37:g.136291344A>T	ENSP00000360997:p.Asn189Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N189Y	ENST00000371929.3	37	c.565	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573249	0.65765	.	.	ENSG00000160323	ENST00000371929;ENST00000371916;ENST00000355699;ENST00000356589;ENST00000371911;ENST00000338351	T;D;T;T;T	0.82081	-0.07;-1.57;-0.07;-0.07;-0.07	4.69	2.31	0.28768	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.89339	0.6687	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.995;0.995;0.994	D	0.87152	0.2209	9	0.72032	D	0.01	.	8.1968	0.31400	0.8322:0.0:0.1678:0.0	.	189;189;189;189	Q76LX8;Q76LX8-3;Q76LX8-2;E7EV88	ATS13_HUMAN;.;.;.	Y	189;189;189;189;189;59	ENSP00000360997:N189Y;ENSP00000360984:N189Y;ENSP00000347927:N189Y;ENSP00000348997:N189Y;ENSP00000360979:N189Y	ENSP00000345120:N59Y	N	+	1	0	ADAMTS13	135281165	0.998000	0.40836	0.518000	0.27811	0.901000	0.52897	3.971000	0.56831	0.196000	0.20367	-0.263000	0.10527	AAC	ADAMTS13	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000160323		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	36	0.00	0	A	NM_139025		136291344	136291344	+1	no_errors	ENST00000371929	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	0.991	T
ATP13A4	84239	genome.wustl.edu	37	3	193220428	193220428	+	Splice_Site	SNP	C	C	A	rs146415399	byFrequency	TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr3:193220428C>A	ENST00000342695.4	-	3	557	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	ATP13A4_ENST00000392443.3_Splice_Site_p.D79Y|ATP13A4_ENST00000295548.3_Splice_Site_p.D79Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	79						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGGAATTCATCCTGAGGAGAT	0.393																																						dbGAP											0													79.0	75.0	76.0					3																	193220428		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.235-1G>T	3.37:g.193220428C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.D79Y	ENST00000342695.4	37	c.235	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552412	0.65311	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.56941	0.43;0.43;0.43	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000009	T	0.74935	0.3782	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76321	-0.3002	10	0.52906	T	0.07	-8.2413	18.1389	0.89631	0.0:1.0:0.0:0.0	.	79;79	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	Y	79	ENSP00000376238:D79Y;ENSP00000339182:D79Y;ENSP00000295548:D79Y	ENSP00000295548:D79Y	D	-	1	0	ATP13A4	194703122	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	3.345000	0.52182	2.642000	0.89623	0.561000	0.74099	GAT	ATP13A4	-	tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000127249		0.393	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	44	0.00	0	C	NM_032279	Missense_Mutation	193220428	193220428	-1	no_errors	ENST00000342695	ensembl	human	known	69_37n	missense	21	66.67	42	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	16	88620345	88620345	+	IGR	SNP	A	A	C	rs28424075	byFrequency	TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr16:88620345A>C								ZFPM1 (16921 upstream) : ZC3H18 (16443 downstream)																							GGCGGGACGCACGCAGTGCAG	0.647																																						dbGAP											0													61.0	62.0	62.0					16																	88620345		2198	4300	6498	-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.88620345A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.R95		37	c.285		16																																																																																			C16orf85	-	NULL	ENSG00000205036	0	0.647					C16orf85	HGNC			26	0.00	0	A			88620345	88620345	-1	no_errors	ENST00000378416	ensembl	human	known	69_37n	silent	46	13.21	7	SNP	0.001	C
COL18A1	80781	genome.wustl.edu	37	21	46875483	46875483	+	Silent	SNP	G	G	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr21:46875483G>A	ENST00000359759.4	+	1	60	c.39G>A	c.(37-39)ctG>ctA	p.L13L	COL18A1_ENST00000355480.5_Silent_p.L13L|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	13					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCTGCTGCTGCTCTTCTGCT	0.657																																						dbGAP											0													33.0	43.0	40.0					21																	46875483		2094	4218	6312	-	-	-	SO:0001819	synonymous_variant	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.39G>A	21.37:g.46875483G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.L13	ENST00000359759.4	37	c.39		21																																																																																			COL18A1	-	pfam_DUF959_COL18_N	ENSG00000182871		0.657	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	25	0.00	0	G			46875483	46875483	+1	no_errors	ENST00000359759	ensembl	human	known	69_37n	silent	20	30.00	9	SNP	0.999	A
COL4A4	1286	genome.wustl.edu	37	2	227979409	227979409	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr2:227979409G>A	ENST00000396625.3	-	8	700	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	COL4A4_ENST00000329662.7_Missense_Mutation_p.H165Y	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	165	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCCAGGATGGCCCTGAAAA	0.289																																						dbGAP											0													99.0	89.0	92.0					2																	227979409		1800	4075	5875	-	-	-	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.493C>T	2.37:g.227979409G>A	ENSP00000379866:p.His165Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.H165Y	ENST00000396625.3	37	c.493	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	4.927	0.172301	0.09391	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93247	-3.19;-3.19	5.51	0.536	0.17138	.	.	.	.	.	T	0.81856	0.4911	N	0.08118	0	0.20074	N	0.999932	B	0.02656	0.0	B	0.04013	0.001	T	0.67639	-0.5619	9	0.17832	T	0.49	.	6.2914	0.21061	0.3076:0.1285:0.5639:0.0	.	165	P53420	CO4A4_HUMAN	Y	165	ENSP00000379866:H165Y;ENSP00000328553:H165Y	ENSP00000328553:H165Y	H	-	1	0	COL4A4	227687653	0.860000	0.29831	0.872000	0.34217	0.969000	0.65631	0.197000	0.17197	0.096000	0.17463	-0.136000	0.14681	CAT	COL4A4	-	pfam_Collagen	ENSG00000081052		0.289	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	81	0.00	0	G	NM_000092		227979409	227979409	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	missense	74	22.11	21	SNP	0.846	A
CROCCP2	84809	genome.wustl.edu	37	1	16950261	16950261	+	lincRNA	SNP	G	G	C	rs11260845	byFrequency	TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr1:16950261G>C	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											aggccagccagactcctactc	0.572																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950261G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.572	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	15	0.00	0	G	NR_026752.1		16950261	16950261	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	12	36.84	7	SNP	0.687	C
CXorf40A	91966	genome.wustl.edu	37	X	148628334	148628334	+	Silent	SNP	C	C	G			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chrX:148628334C>G	ENST00000441248.1	+	4	1890	c.303C>G	c.(301-303)ccC>ccG	p.P101P	CXorf40A_ENST00000359293.5_Silent_p.P101P|CXorf40A_ENST00000434353.2_Silent_p.P101P|CXorf40A_ENST00000450602.2_Silent_p.P101P|CXorf40A_ENST00000423540.2_Silent_p.P101P|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000423421.1_Silent_p.P101P|CXorf40A_ENST00000514208.1_Silent_p.P101P|CXorf40A_ENST00000393985.3_Silent_p.P101P|CXorf40A_ENST00000422892.2_Silent_p.P101P|CXorf40A_ENST00000428236.1_Silent_p.P39P			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	101										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACTTAACTCCCGATGAGGTTG	0.468																																						dbGAP											0													112.0	81.0	92.0					X																	148628334		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.303C>G	X.37:g.148628334C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Silent	SNP	superfamily_PUA-like_domain	p.P101	ENST00000441248.1	37	c.303	CCDS14687.1	X																																																																																			CXorf40A	-	superfamily_PUA-like_domain	ENSG00000197620		0.468	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40A	HGNC	protein_coding	OTTHUMT00000058699.3	84	0.00	0	C	NM_178124		148628334	148628334	+1	no_errors	ENST00000359293	ensembl	human	known	69_37n	silent	87	26.89	32	SNP	0.000	G
DEFB131	644414	genome.wustl.edu	37	4	9446286	9446286	+	Silent	SNP	A	A	C			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr4:9446286A>C	ENST00000334879.1	+	1	27	c.27A>C	c.(25-27)ggA>ggC	p.G9G		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	9					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				lung(2)	2						TTGTCTTTGGAGTCCTTTCCT	0.368																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"""Defensins, beta"""	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.27A>C	4.37:g.9446286A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.G9	ENST00000334879.1	37	c.27	CCDS43213.1	4																																																																																			DEFB131	-	NULL	ENSG00000186146		0.368	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB131	HGNC	protein_coding	OTTHUMT00000359607.1	120	0.00	0	A	NM_001040448		9446286	9446286	+1	no_errors	ENST00000334879	ensembl	human	known	69_37n	silent	84	32.26	40	SNP	0.021	C
DNAH11	8701	genome.wustl.edu	37	7	21698446	21698446	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr7:21698446A>C	ENST00000409508.3	+	30	5156	c.5125A>C	c.(5125-5127)Act>Cct	p.T1709P	DNAH11_ENST00000328843.6_Missense_Mutation_p.T1714P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1714	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTGAACAGACTATGCAAGA	0.433									Kartagener syndrome																													dbGAP											0													42.0	40.0	41.0					7																	21698446		1885	4106	5991	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5125A>C	7.37:g.21698446A>C	ENSP00000475939:p.Thr1709Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T1714P	ENST00000409508.3	37	c.5140		7	.	.	.	.	.	.	.	.	.	.	A	14.41	2.528594	0.44969	.	.	ENSG00000105877	ENST00000328843	T	0.55052	0.54	5.92	0.918	0.19386	Dynein heavy chain, domain-2 (1);	0.422462	0.28161	N	0.016362	T	0.53061	0.1773	.	.	.	0.34132	D	0.665421	P	0.48911	0.917	P	0.51701	0.677	T	0.61287	-0.7093	9	0.33940	T	0.23	.	9.6865	0.40103	0.7381:0.0:0.2619:0.0	.	1714	Q96DT5	DYH11_HUMAN	P	1714	ENSP00000330671:T1714P	ENSP00000330671:T1714P	T	+	1	0	DNAH11	21664971	0.985000	0.35326	0.997000	0.53966	0.880000	0.50808	1.429000	0.34903	0.178000	0.19917	0.491000	0.48974	ACT	DNAH11	-	pfam_Dynein_heavy_dom-2	ENSG00000105877		0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	41	0.00	0	A	NM_003777		21698446	21698446	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	39	29.09	16	SNP	0.863	C
DNAH12	201625	genome.wustl.edu	37	3	57388140	57388140	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr3:57388140G>A	ENST00000351747.2	-	44	7088	c.6908C>T	c.(6907-6909)cCg>cTg	p.P2303L	DNAH12_ENST00000344804.4_5'Flank	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2303	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTTGGTCACCGGGACAGCAAT	0.408																																						dbGAP											0													137.0	119.0	125.0					3																	57388140		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.6908C>T	3.37:g.57388140G>A	ENSP00000295937:p.Pro2303Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.P2303L	ENST00000351747.2	37	c.6908		3	.	.	.	.	.	.	.	.	.	.	G	1.745	-0.490642	0.04322	.	.	ENSG00000174844	ENST00000351747	T	0.53857	0.6	3.48	0.712	0.18167	.	.	.	.	.	T	0.24928	0.0605	N	0.08118	0	0.09310	N	1	B	0.32203	0.36	B	0.19666	0.026	T	0.09997	-1.0649	9	0.38643	T	0.18	.	5.4352	0.16478	0.3702:0.0:0.6298:0.0	.	2303	Q6ZR08	DYH12_HUMAN	L	2303	ENSP00000295937:P2303L	ENSP00000295937:P2303L	P	-	2	0	DNAH12	57363180	0.011000	0.17503	0.000000	0.03702	0.043000	0.13939	0.216000	0.17585	0.159000	0.19401	-0.244000	0.11960	CCG	DNAH12	-	NULL	ENSG00000174844		0.408	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		43	0.00	0	G	NM_178504		57388140	57388140	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	36	36.84	21	SNP	0.000	A
ERCC6L	54821	genome.wustl.edu	37	X	71426994	71426994	+	Silent	SNP	G	G	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chrX:71426994G>A	ENST00000334463.3	-	2	1758	c.1623C>T	c.(1621-1623)gtC>gtT	p.V541V	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Silent_p.V418V	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	541	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATGTTAAACCGACACCACCTA	0.398																																						dbGAP											0													79.0	68.0	72.0					X																	71426994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1623C>T	X.37:g.71426994G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V541	ENST00000334463.3	37	c.1623	CCDS35329.1	X																																																																																			ERCC6L	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000186871		0.398	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	46	0.00	0	G	NM_017669		71426994	71426994	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	silent	32	38.46	20	SNP	0.960	A
GINS3	64785	genome.wustl.edu	37	16	58438557	58438557	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr16:58438557G>T	ENST00000318129.5	+	3	783	c.575G>T	c.(574-576)gGg>gTg	p.G192V	GINS3_ENST00000426538.2_Missense_Mutation_p.G231V|GINS3_ENST00000328514.7_Missense_Mutation_p.G114V	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	192					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGGGAGAAGGGGCAGGCTTCT	0.478																																						dbGAP											0													88.0	81.0	83.0					16																	58438557		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.575G>T	16.37:g.58438557G>T	ENSP00000318196:p.Gly192Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	pfam_GINS_complex	p.G231V	ENST00000318129.5	37	c.692	CCDS10796.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996407	0.93167	.	.	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T;T;T	0.14893	2.47;2.47;2.47	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.97110	1.0;1.0;0.86	T	0.07635	-1.0762	10	0.52906	T	0.07	-7.5219	19.3813	0.94536	0.0:0.0:1.0:0.0	.	231;114;192	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	V	231;114;192	ENSP00000401018:G231V;ENSP00000327449:G114V;ENSP00000318196:G192V	ENSP00000318196:G192V	G	+	2	0	GINS3	56996058	1.000000	0.71417	0.973000	0.42090	0.990000	0.78478	9.581000	0.98210	2.824000	0.97209	0.655000	0.94253	GGG	GINS3	-	NULL	ENSG00000181938		0.478	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS3	HGNC	protein_coding	OTTHUMT00000257384.2	44	0.00	0	G	NM_022770		58438557	58438557	+1	no_errors	ENST00000426538	ensembl	human	known	69_37n	missense	45	27.42	17	SNP	1.000	T
GPR148	344561	genome.wustl.edu	37	2	131486925	131486925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr2:131486925delC	ENST00000309926.4	+	1	283	c.201delC	c.(199-201)agcfs	p.S67fs		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGGCTGTCAGCCCCCTGCTGC	0.627																																						dbGAP											0													55.0	54.0	54.0					2																	131486925		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.201delC	2.37:g.131486925delC	ENSP00000308908:p.Ser67fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M369|Q86SP7|Q86U87	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L69fs	ENST00000309926.4	37	c.201	CCDS2163.1	2																																																																																			GPR148	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173302		0.627	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR148	HGNC	protein_coding	OTTHUMT00000254552.3	29	0.00	0	C	XM_293092		131486925	131486925	+1	no_errors	ENST00000309926	ensembl	human	known	69_37n	frame_shift_del	36	21.74	10	DEL	0.992	-
IDE	3416	genome.wustl.edu	37	10	94235707	94235707	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr10:94235707C>G	ENST00000265986.6	-	16	1985	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.K88N	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	643					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	CAATAATCTTCTTTAGTAAAA	0.299																																						dbGAP											0													30.0	28.0	29.0					10																	94235707		2192	4281	6473	-	-	-	SO:0001583	missense	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1929G>C	10.37:g.94235707C>G	ENSP00000265986:p.Lys643Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.K643N	ENST00000265986.6	37	c.1929	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889317	0.72524	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.43294	0.95;0.95	5.73	5.73	0.89815	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.111890	0.64402	D	0.000013	T	0.30230	0.0758	N	0.12961	0.28	0.80722	D	1	B;B	0.18013	0.019;0.025	B;B	0.16289	0.008;0.015	T	0.04607	-1.0939	10	0.40728	T	0.16	-16.1112	17.6832	0.88249	0.0:1.0:0.0:0.0	.	643;88	P14735;B3KSB8	IDE_HUMAN;.	N	643;88	ENSP00000265986:K643N;ENSP00000360637:K88N	ENSP00000265986:K643N	K	-	3	2	IDE	94225687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.991000	0.70602	2.704000	0.92352	0.650000	0.86243	AAG	IDE	-	superfamily_Metalloenz_metal-bd	ENSG00000119912		0.299	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	45	0.00	0	C	NM_004969		94235707	94235707	-1	no_errors	ENST00000265986	ensembl	human	known	69_37n	missense	52	15.62	10	SNP	1.000	G
IKBKAP	8518	genome.wustl.edu	37	9	111674571	111674572	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr9:111674571_111674572delAG	ENST00000374647.5	-	11	1468_1469	c.1161_1162delCT	c.(1159-1164)gacttgfs	p.L388fs	IKBKAP_ENST00000537196.1_Frame_Shift_Del_p.L39fs	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	388					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACATTGGACAAGTCACTTGAAT	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1161_1162delCT	9.37:g.111674571_111674572delAG	ENSP00000363779:p.Leu388fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Frame_Shift_Del	DEL	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.L388fs	ENST00000374647.5	37	c.1162_1161	CCDS6773.1	9																																																																																			IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.550	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	21	0.00	0	AG			111674571	111674572	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	frame_shift_del	19	34.48	10	DEL	0.949:1.000	-
INHA	3623	genome.wustl.edu	37	2	220437229	220437229	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr2:220437229G>A	ENST00000243786.2	+	1	313	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	OBSL1_ENST00000265318.4_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000373876.1_5'Flank|OBSL1_ENST00000373873.4_5'Flank|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000404537.1_5'Flank|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000289656.3_5'Flank	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	45					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGGCCCCCCGCGGTGACCAG	0.687											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.133G>A	2.37:g.220437229G>A	ENSP00000243786:p.Ala45Thr	Somatic	2266	WXS	Illumina GAIIx	Phase_IV	A8K8H5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu	p.A45T	ENST00000243786.2	37	c.133	CCDS2444.1	2	.	.	.	.	.	.	.	.	.	.	G	0.443	-0.897397	0.02472	.	.	ENSG00000123999	ENST00000243786	D	0.84730	-1.89	5.52	0.939	0.19506	.	0.763220	0.12519	N	0.461823	T	0.78534	0.4298	L	0.54323	1.7	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.58493	-0.7627	10	0.09084	T	0.74	-0.5705	11.4606	0.50208	0.1131:0.5004:0.3865:0.0	.	45	P05111	INHA_HUMAN	T	45	ENSP00000243786:A45T	ENSP00000243786:A45T	A	+	1	0	INHA	220145473	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.007000	0.13174	0.257000	0.21650	0.555000	0.69702	GCG	INHA	-	pirsf_Inhibin_asu_subgr	ENSG00000123999		0.687	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHA	HGNC	protein_coding	OTTHUMT00000131425.1	14	0.00	0	G			220437229	220437229	+1	no_errors	ENST00000243786	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	0.000	A
LAP3	51056	genome.wustl.edu	37	4	17585198	17585198	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr4:17585198G>C	ENST00000226299.4	+	5	746	c.472G>C	c.(472-474)Ggt>Cgt	p.G158R	LAP3_ENST00000606142.1_Missense_Mutation_p.G127R	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	158					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AGCGGTGCTTGGTCTCTATGA	0.532																																						dbGAP											0													104.0	107.0	106.0					4																	17585198		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.472G>C	4.37:g.17585198G>C	ENSP00000226299:p.Gly158Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.G158R	ENST00000226299.4	37	c.472	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530580	0.85706	.	.	ENSG00000002549	ENST00000226299	T	0.51817	0.69	5.43	5.43	0.79202	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80011	-0.1561	10	0.87932	D	0	-26.3628	19.5984	0.95549	0.0:0.0:1.0:0.0	.	158	P28838	AMPL_HUMAN	R	158	ENSP00000226299:G158R	ENSP00000226299:G158R	G	+	1	0	LAP3	17194296	1.000000	0.71417	0.374000	0.26016	0.646000	0.38490	9.673000	0.98631	2.694000	0.91930	0.655000	0.94253	GGT	LAP3	-	pfam_Peptidase_M17_N	ENSG00000002549		0.532	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	61	0.00	0	G			17585198	17585198	+1	no_errors	ENST00000226299	ensembl	human	known	69_37n	missense	51	36.25	29	SNP	0.999	C
MANEA	79694	genome.wustl.edu	37	6	96053674	96053674	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr6:96053674C>T	ENST00000358812.4	+	5	916	c.782C>T	c.(781-783)gCt>gTt	p.A261V	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	261	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACTGGCAATGCTCTTCCTATG	0.373																																						dbGAP											0													115.0	111.0	112.0					6																	96053674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.782C>T	6.37:g.96053674C>T	ENSP00000351669:p.Ala261Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.A261V	ENST00000358812.4	37	c.782	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	C	4.056	0.008035	0.07912	.	.	ENSG00000172469	ENST00000358812	D	0.91464	-2.85	6.16	1.82	0.25136	.	0.647392	0.17731	N	0.163915	T	0.67683	0.2919	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58595	-0.7609	10	0.30854	T	0.27	-4.057	6.0353	0.19704	0.3423:0.4778:0.0:0.1798	.	261	Q5SRI9	MANEA_HUMAN	V	261	ENSP00000351669:A261V	ENSP00000351669:A261V	A	+	2	0	MANEA	96160395	0.001000	0.12720	0.022000	0.16811	0.226000	0.24999	1.367000	0.34204	0.448000	0.26722	-0.188000	0.12872	GCT	MANEA	-	NULL	ENSG00000172469		0.373	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1	84	0.00	0	C	NM_024641		96053674	96053674	+1	no_errors	ENST00000358812	ensembl	human	known	69_37n	missense	93	14.68	16	SNP	0.000	T
MAP4K1	11184	genome.wustl.edu	37	19	39087977	39087977	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr19:39087977G>A	ENST00000591517.1	-	24	1854	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	MAP4K1_ENST00000589130.1_Missense_Mutation_p.A605V|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.A609V|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	609	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACACAGCACGCCCGGCAGCC	0.597																																						dbGAP											0													151.0	167.0	162.0					19																	39087977		2107	4223	6330	-	-	-	SO:0001583	missense	0			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1826C>T	19.37:g.39087977G>A	ENSP00000465039:p.Ala609Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A609V	ENST00000591517.1	37	c.1826	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851333	0.71719	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.04862	3.54	5.25	3.13	0.36017	Citron-like (3);	0.273598	0.36002	N	0.002855	T	0.05456	0.0144	L	0.44542	1.39	0.19775	N	0.99996	B;B	0.31413	0.176;0.322	B;B	0.19148	0.014;0.024	T	0.32455	-0.9906	10	0.72032	D	0.01	.	7.5471	0.27772	0.085:0.3196:0.5954:0.0	.	609;609	Q92918-2;Q92918	.;M4K1_HUMAN	V	609	ENSP00000380066:A609V	ENSP00000221409:A609V	A	-	2	0	MAP4K1	43779817	0.523000	0.26274	0.599000	0.28851	0.992000	0.81027	3.029000	0.49712	0.806000	0.34183	0.555000	0.69702	GCG	MAP4K1	-	pfam_Citron,smart_Citron	ENSG00000104814		0.597	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	24	0.00	0	G	NM_001042600		39087977	39087977	-1	no_errors	ENST00000591517	ensembl	human	known	69_37n	missense	42	19.23	10	SNP	0.039	A
MED20	9477	genome.wustl.edu	37	6	41874991	41874991	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr6:41874991C>T	ENST00000265350.4	-	4	538	c.458G>A	c.(457-459)tGc>tAc	p.C153Y	MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	153					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGACTCCAGCAGTCACTAGC	0.542																																						dbGAP											0													45.0	41.0	42.0					6																	41874991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.458G>A	6.37:g.41874991C>T	ENSP00000265350:p.Cys153Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE08|O95821|Q5T8J4|Q9Y429	Missense_Mutation	SNP	pfam_Mediator_Med20	p.C153Y	ENST00000265350.4	37	c.458	CCDS4862.1	6	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990725	0.93106	.	.	ENSG00000124641	ENST00000265350	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.84814	0.0792	9	0.87932	D	0	-17.7817	19.6358	0.95733	0.0:1.0:0.0:0.0	.	153	Q9H944	MED20_HUMAN	Y	153	.	ENSP00000265350:C153Y	C	-	2	0	MED20	41982969	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.601000	0.82783	2.746000	0.94184	0.561000	0.74099	TGC	MED20	-	pfam_Mediator_Med20	ENSG00000124641		0.542	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED20	HGNC	protein_coding	OTTHUMT00000040539.1	33	0.00	0	C	NM_004275		41874991	41874991	-1	no_errors	ENST00000265350	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	1.000	T
MYH8	4626	genome.wustl.edu	37	17	10318441	10318441	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr17:10318441A>G	ENST00000403437.2	-	9	891	c.797T>C	c.(796-798)aTa>aCa	p.I266T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	266	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACATGTTTCTATATCAGCAGA	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											0													148.0	158.0	155.0					17																	10318441		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.797T>C	17.37:g.10318441A>G	ENSP00000384330:p.Ile266Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I266T	ENST00000403437.2	37	c.797	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569535	0.65765	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91351	-2.83	4.29	4.29	0.51040	Myosin head, motor domain (2);	0.000000	0.42420	U	0.000701	D	0.96658	0.8909	H	0.96142	3.775	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97760	1.0220	10	0.87932	D	0	.	13.8611	0.63561	1.0:0.0:0.0:0.0	.	266	P13535	MYH8_HUMAN	T	266	ENSP00000384330:I266T	ENSP00000252173:I266T	I	-	2	0	MYH8	10259166	1.000000	0.71417	0.915000	0.36163	0.973000	0.67179	8.981000	0.93465	1.935000	0.56089	0.482000	0.46254	ATA	MYH8	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133020		0.378	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	78	0.00	0	A	NM_002472		10318441	10318441	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	39	35.00	21	SNP	1.000	G
MYO3A	53904	genome.wustl.edu	37	10	26459429	26459429	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr10:26459429A>C	ENST00000265944.5	+	29	3525	c.3359A>C	c.(3358-3360)gAt>gCt	p.D1120A	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1120					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAACTTCTGATCAGGAATTC	0.343																																						dbGAP											0													67.0	62.0	64.0					10																	26459429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3359A>C	10.37:g.26459429A>C	ENSP00000265944:p.Asp1120Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.D1120A	ENST00000265944.5	37	c.3359	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.146286	0.00328	.	.	ENSG00000095777	ENST00000265944	T	0.76448	-1.02	5.03	2.7	0.31948	.	0.340681	0.34986	N	0.003526	T	0.59770	0.2218	L	0.29908	0.895	0.09310	N	0.999999	B	0.22480	0.07	B	0.22753	0.041	T	0.38824	-0.9643	10	0.15952	T	0.53	.	5.0416	0.14462	0.7137:0.0:0.1513:0.1349	.	1120	Q8NEV4	MYO3A_HUMAN	A	1120	ENSP00000265944:D1120A	ENSP00000265944:D1120A	D	+	2	0	MYO3A	26499435	0.031000	0.19500	0.055000	0.19348	0.055000	0.15305	1.245000	0.32790	0.397000	0.25310	0.533000	0.62120	GAT	MYO3A	-	NULL	ENSG00000095777		0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	46	0.00	0	A	NM_017433		26459429	26459429	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.056	C
NEK5	341676	genome.wustl.edu	37	13	52693487	52693487	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr13:52693487G>A	ENST00000355568.4	-	4	321	c.182C>T	c.(181-183)cCc>cTc	p.P61L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TACAATGTTGGGATGTTTCAT	0.299																																						dbGAP											0													96.0	99.0	98.0					13																	52693487		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.182C>T	13.37:g.52693487G>A	ENSP00000347767:p.Pro61Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P61L	ENST00000355568.4	37	c.182	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745248	0.89663	.	.	ENSG00000197168	ENST00000355568	T	0.33216	1.42	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.180918	0.37857	N	0.001918	T	0.70544	0.3236	H	0.96576	3.845	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.82063	-0.0643	10	0.87932	D	0	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	61	Q6P3R8	NEK5_HUMAN	L	61	ENSP00000347767:P61L	ENSP00000347767:P61L	P	-	2	0	NEK5	51591488	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.720000	0.91442	2.466000	0.83321	0.655000	0.94253	CCC	NEK5	-	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	ENSG00000197168		0.299	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	97	0.00	0	G	NM_199289		52693487	52693487	-1	no_errors	ENST00000355568	ensembl	human	known	69_37n	missense	33	48.44	31	SNP	1.000	A
NFXL1	152518	genome.wustl.edu	37	4	47877233	47877233	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr4:47877233C>A	ENST00000507489.1	-	18	2333	c.2157G>T	c.(2155-2157)ttG>ttT	p.L719F	NFXL1_ENST00000381538.3_Missense_Mutation_p.L719F	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	719						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GGTGACATCGCAAAATACATG	0.448																																						dbGAP											0													131.0	110.0	117.0					4																	47877233		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2157G>T	4.37:g.47877233C>A	ENSP00000422037:p.Leu719Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.L719F	ENST00000507489.1	37	c.2157	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702258	0.48307	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.29655	1.56;1.56	5.94	3.31	0.37934	Zinc finger, NF-X1-type (1);	0.101652	0.38720	N	0.001584	T	0.33847	0.0877	M	0.70787	2.145	0.80722	D	1	B	0.32010	0.351	B	0.36186	0.219	T	0.06972	-1.0797	10	0.45353	T	0.12	-6.5728	9.2475	0.37536	0.0:0.6597:0.0:0.3403	.	719	Q6ZNB6	NFXL1_HUMAN	F	719	ENSP00000370949:L719F;ENSP00000422037:L719F	ENSP00000370949:L719F	L	-	3	2	NFXL1	47571990	1.000000	0.71417	0.985000	0.45067	0.658000	0.38924	0.751000	0.26348	0.428000	0.26173	-0.350000	0.07774	TTG	NFXL1	-	smart_Znf_NFX1	ENSG00000170448		0.448	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	74	0.00	0	C	NM_152995		47877233	47877233	-1	no_errors	ENST00000381538	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	A
NLK	51701	genome.wustl.edu	37	17	26370124	26370124	+	Silent	SNP	C	C	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr17:26370124C>T	ENST00000407008.3	+	1	943	c.225C>T	c.(223-225)gcC>gcT	p.A75A	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Silent_p.A75A	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	75	Poly-Ala.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ctgcggcagccgcagcagcgg	0.637																																						dbGAP											0													39.0	28.0	32.0					17																	26370124		2140	4161	6301	-	-	-	SO:0001819	synonymous_variant	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.225C>T	17.37:g.26370124C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCX1|Q2PNI9|Q6P2A3	Silent	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.A75	ENST00000407008.3	37	c.225	CCDS11224.2	17																																																																																			NLK	-	NULL	ENSG00000087095		0.637	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	HGNC	protein_coding	OTTHUMT00000255607.3	54	0.00	0	C	NM_016231		26370124	26370124	+1	no_errors	ENST00000407008	ensembl	human	known	69_37n	silent	29	30.95	13	SNP	1.000	T
PCNXL2	80003	genome.wustl.edu	37	1	233190018	233190018	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr1:233190018G>T	ENST00000258229.9	-	25	4581	c.4347C>A	c.(4345-4347)ttC>ttA	p.F1449L	PCNXL2_ENST00000344698.2_Missense_Mutation_p.F101L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1449						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCTTACCTCGGAATTCCAGTC	0.373																																						dbGAP											0													61.0	58.0	59.0					1																	233190018		1855	4093	5948	-	-	-	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4347C>A	1.37:g.233190018G>T	ENSP00000258229:p.Phe1449Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.F1449L	ENST00000258229.9	37	c.4347	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949969	0.73787	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.29142	1.58;2.61	5.12	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.85462	2.755	0.80722	D	1	P;P	0.51537	0.946;0.885	D;P	0.64506	0.926;0.58	T	0.51616	-0.8683	10	0.87932	D	0	.	6.9333	0.24453	0.5081:0.0:0.4919:0.0	.	1449;101	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	L	101;1449	ENSP00000340759:F101L;ENSP00000258229:F1449L	ENSP00000258229:F1449L	F	-	3	2	PCNXL2	231256641	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.474000	0.45154	0.436000	0.26393	0.655000	0.94253	TTC	PCNXL2	-	NULL	ENSG00000135749		0.373	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	36	0.00	0	G	NM_014801		233190018	233190018	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	T
PDE3A	5139	genome.wustl.edu	37	12	20801709	20801709	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr12:20801709T>A	ENST00000359062.3	+	13	2693	c.2653T>A	c.(2653-2655)Ttc>Atc	p.F885I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	885	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGAGTATAACTTCTTAATTAA	0.423																																						dbGAP											0													154.0	144.0	148.0					12																	20801709		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2653T>A	12.37:g.20801709T>A	ENSP00000351957:p.Phe885Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.F885I	ENST00000359062.3	37	c.2653	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341050	0.81911	.	.	ENSG00000172572	ENST00000359062	T	0.72615	-0.67	5.76	5.76	0.90799	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.046078	0.85682	D	0.000000	T	0.73521	0.3597	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69296	-0.5182	10	0.15952	T	0.53	.	16.0709	0.80928	0.0:0.0:0.0:1.0	.	885	Q14432	PDE3A_HUMAN	I	885	ENSP00000351957:F885I	ENSP00000351957:F885I	F	+	1	0	PDE3A	20692976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.198000	0.70561	0.528000	0.53228	TTC	PDE3A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000172572		0.423	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	71	0.00	0	T			20801709	20801709	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	64	44.83	52	SNP	1.000	A
PLXNB1	5364	genome.wustl.edu	37	3	48459737	48459737	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr3:48459737A>T	ENST00000358536.4	-	15	3354	c.3085T>A	c.(3085-3087)Tgc>Agc	p.C1029S	PLXNB1_ENST00000358459.4_Missense_Mutation_p.C846S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.C1029S|PLXNB1_ENST00000456774.1_Missense_Mutation_p.C846S|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1029					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCGGCTGCAGTCTCCATGT	0.642																																						dbGAP											0													73.0	64.0	67.0					3																	48459737		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3085T>A	3.37:g.48459737A>T	ENSP00000351338:p.Cys1029Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.C1029S	ENST00000358536.4	37	c.3085	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	A	30	5.052435	0.93793	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.14893	2.47;2.63;2.47;2.63	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.83275	0.82;0.996	T	0.12066	-1.0562	10	0.87932	D	0	.	14.9509	0.71074	1.0:0.0:0.0:0.0	.	1029;846	O43157;O43157-2	PLXB1_HUMAN;.	S	1029;846;1029;846	ENSP00000296440:C1029S;ENSP00000351242:C846S;ENSP00000351338:C1029S;ENSP00000414199:C846S	ENSP00000296440:C1029S	C	-	1	0	PLXNB1	48434741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.774000	0.91767	2.135000	0.66039	0.459000	0.35465	TGC	PLXNB1	-	superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000164050		0.642	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	22	0.00	0	A	NM_002673		48459737	48459737	-1	no_errors	ENST00000296440	ensembl	human	known	69_37n	missense	0	100.00	10	SNP	1.000	T
PTPRB	5787	genome.wustl.edu	37	12	70946687	70946687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr12:70946687C>A	ENST00000261266.5	-	19	4632	c.4603G>T	c.(4603-4605)Gaa>Taa	p.E1535*	PTPRB_ENST00000538708.1_Nonsense_Mutation_p.E1445*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.E1753*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.E1445*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.E1445*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.E1665*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1535	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTAGGATTTTCGGCACATTTG	0.468																																						dbGAP											0													121.0	116.0	117.0					12																	70946687		1899	4126	6025	-	-	-	SO:0001587	stop_gained	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4603G>T	12.37:g.70946687C>A	ENSP00000261266:p.Glu1535*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E1753*	ENST00000261266.5	37	c.5257	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	43	10.449793	0.99407	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.76	5.76	0.90799	.	0.096519	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	19.9635	0.97259	0.0:1.0:0.0:0.0	.	.	.	.	X	1753;1445;1665;1445;1445;1535	.	ENSP00000261266:E1535X	E	-	1	0	PTPRB	69232954	1.000000	0.71417	0.980000	0.43619	0.607000	0.37147	4.586000	0.60984	2.714000	0.92807	0.591000	0.81541	GAA	PTPRB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000127329		0.468	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	69	0.00	0	C			70946687	70946687	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	nonsense	71	27.55	27	SNP	1.000	A
RBBP4	5928	genome.wustl.edu	37	1	33117549	33117549	+	Silent	SNP	C	C	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr1:33117549C>T	ENST00000373493.5	+	2	210	c.51C>T	c.(49-51)atC>atT	p.I17I	ZBTB8OS_ENST00000373501.2_5'Flank|ZBTB8OS_ENST00000492007.1_5'Flank|ZBTB8OS_ENST00000341885.5_5'Flank|RBBP4_ENST00000414241.3_Silent_p.I16I|RBBP4_ENST00000458695.2_5'UTR|ZBTB8OS_ENST00000468695.1_5'Flank|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000373485.1_Silent_p.I17I	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	17					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AACGAGTGATCAACGAGGAAT	0.433																																						dbGAP											0													67.0	69.0	68.0					1																	33117549		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.51C>T	1.37:g.33117549C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I17	ENST00000373493.5	37	c.51	CCDS366.1	1																																																																																			RBBP4	-	NULL	ENSG00000162521		0.433	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	HGNC	protein_coding	OTTHUMT00000021957.3	57	0.00	0	C	NM_005610		33117549	33117549	+1	no_errors	ENST00000373493	ensembl	human	known	69_37n	silent	94	19.66	23	SNP	1.000	T
RGPD3	653489	genome.wustl.edu	37	2	107032319	107032319	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr2:107032319A>T	ENST00000409886.3	-	21	5138	c.5051T>A	c.(5050-5052)aTg>aAg	p.M1684K	RGPD3_ENST00000304514.7_Missense_Mutation_p.M1684K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1684					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AATTTGCTCCATAAGGACTGC	0.423																																						dbGAP											0													87.0	75.0	78.0					2																	107032319		692	1585	2277	-	-	-	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.5051T>A	2.37:g.107032319A>T	ENSP00000386588:p.Met1684Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.M1684K	ENST00000409886.3	37	c.5051	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	5.551	0.286527	0.10513	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.39056	1.1;1.1	0.701	0.701	0.18104	.	.	.	.	.	T	0.27313	0.0670	L	0.51422	1.61	0.30811	N	0.738844	P	0.47604	0.898	B	0.31686	0.134	T	0.38564	-0.9655	9	0.87932	D	0	-4.5621	5.6646	0.17689	1.0:0.0:0.0:0.0	.	1684	A6NKT7	RGPD3_HUMAN	K	58;1684;1051;1684	ENSP00000386588:M1684K;ENSP00000303659:M1684K	ENSP00000303659:M1684K	M	-	2	0	RGPD3	106398751	1.000000	0.71417	0.988000	0.46212	0.159000	0.22180	6.784000	0.75084	0.561000	0.29186	0.138000	0.15974	ATG	RGPD3	-	NULL	ENSG00000153165		0.423	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	165	0.00	0	A	XM_929931		107032319	107032319	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	missense	169	24.22	54	SNP	1.000	T
SCN1A	6323	genome.wustl.edu	37	2	166909415	166909415	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr2:166909415G>T	ENST00000303395.4	-	5	640	c.641C>A	c.(640-642)gCa>gAa	p.A214E	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A214E|SCN1A_ENST00000409050.1_Missense_Mutation_p.A214E|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.A214E|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	214					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTTCTCAATGCCGAGACATT	0.448																																						dbGAP											0													98.0	80.0	86.0					2																	166909415		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.641C>A	2.37:g.166909415G>T	ENSP00000303540:p.Ala214Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.A214E	ENST00000303395.4	37	c.641	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.378145	0.95945	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99515	0.9827	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.969;0.999;0.999	D	0.98245	1.0490	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	214;214;214	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	E	214	ENSP00000407030:A214E;ENSP00000303540:A214E;ENSP00000364554:A214E;ENSP00000386312:A214E	ENSP00000303540:A214E	A	-	2	0	SCN1A	166617661	1.000000	0.71417	0.968000	0.41197	0.974000	0.67602	9.748000	0.98867	2.885000	0.99019	0.655000	0.94253	GCA	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	44	0.00	0	G	NM_006920		166909415	166909415	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	67	20.24	17	SNP	1.000	T
SKIL	6498	genome.wustl.edu	37	3	170078924	170078924	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr3:170078924C>G	ENST00000458537.3	+	1	1514	c.805C>G	c.(805-807)Cta>Gta	p.L269V	SKIL_ENST00000426052.2_Missense_Mutation_p.L249V|SKIL_ENST00000413427.2_Missense_Mutation_p.L269V|SKIL_ENST00000259119.4_Missense_Mutation_p.L269V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	269					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCATGAATGCCTAGGCAAATG	0.468																																						dbGAP											0													153.0	135.0	141.0					3																	170078924		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.805C>G	3.37:g.170078924C>G	ENSP00000415243:p.Leu269Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.L269V	ENST00000458537.3	37	c.805	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676271	0.29783	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91631	-2.88;-2.87;-2.85;-2.88	5.51	-1.4	0.08968	SAND domain-like (2);c-SKI Smad4-binding (1);	0.069409	0.53938	D	0.000053	D	0.92996	0.7771	L	0.51422	1.61	0.35931	D	0.832493	D;D	0.89917	0.998;1.0	D;D	0.91635	0.936;0.999	D	0.91940	0.5562	10	0.54805	T	0.06	-7.0832	11.1689	0.48560	0.0:0.4386:0.0:0.5614	.	269;269	P12757-3;P12757	.;SKIL_HUMAN	V	269;249;269;269	ENSP00000259119:L269V;ENSP00000406520:L249V;ENSP00000400193:L269V;ENSP00000415243:L269V	ENSP00000259119:L269V	L	+	1	2	SKIL	171561618	0.949000	0.32298	0.980000	0.43619	0.140000	0.21249	0.319000	0.19522	-0.152000	0.11156	-1.148000	0.01847	CTA	SKIL	-	pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like	ENSG00000136603		0.468	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	68	0.00	0	C	NM_005414		170078924	170078924	+1	no_errors	ENST00000259119	ensembl	human	known	69_37n	missense	62	29.55	26	SNP	0.932	G
STOX1	219736	genome.wustl.edu	37	10	70644582	70644582	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr10:70644582G>C	ENST00000298596.6	+	3	1113	c.1030G>C	c.(1030-1032)Gtc>Ctc	p.V344L	STOX1_ENST00000399169.4_Missense_Mutation_p.V344L|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.V234L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	344						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAATGGCCCGTCCGAGATGA	0.418																																						dbGAP											0													103.0	101.0	102.0					10																	70644582		1902	4124	6026	-	-	-	SO:0001583	missense	0			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1030G>C	10.37:g.70644582G>C	ENSP00000298596:p.Val344Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.V344L	ENST00000298596.6	37	c.1030	CCDS41535.1	10	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046077	0.93740	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.76839	-1.05;-1.05;-0.72	6.08	6.08	0.98989	.	0.000000	0.64402	U	0.000003	D	0.85609	0.5736	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84890	0.0836	10	0.59425	D	0.04	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	344	Q6ZVD7	STOX1_HUMAN	L	344;344;234	ENSP00000382121:V344L;ENSP00000298596:V344L;ENSP00000394509:V234L	ENSP00000298596:V344L	V	+	1	0	STOX1	70314588	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.909000	0.87444	2.894000	0.99253	0.591000	0.81541	GTC	STOX1	-	NULL	ENSG00000165730		0.418	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX1	HGNC	protein_coding	OTTHUMT00000276849.3	43	0.00	0	G	NM_152709		70644582	70644582	+1	no_errors	ENST00000298596	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	1.000	C
TPTE	7179	genome.wustl.edu	37	21	10951293	10951293	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr21:10951293T>C	ENST00000361285.4	-	10	748	c.419A>G	c.(418-420)gAt>gGt	p.D140G	TPTE_ENST00000342420.5_Missense_Mutation_p.D102G|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.D122G	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	140					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGAAGAACATCCATGAGAAA	0.343																																						dbGAP											0													65.0	72.0	69.0					21																	10951293		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.419A>G	21.37:g.10951293T>C	ENSP00000355208:p.Asp140Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D140G	ENST00000361285.4	37	c.419	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	10.90	1.480183	0.26598	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.98150	-4.75;-4.75;-4.75	1.8	1.8	0.24995	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.97692	0.9243	M	0.67397	2.05	0.52501	D	0.999957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.993;0.996	D	0.96535	0.9396	10	0.87932	D	0	-19.8518	5.6804	0.17771	0.0:0.0:0.0:1.0	.	102;122;140	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	G	122;140;102;122	ENSP00000298232:D122G;ENSP00000355208:D140G;ENSP00000344441:D102G	ENSP00000298232:D122G	D	-	2	0	TPTE	9973164	1.000000	0.71417	0.334000	0.25495	0.146000	0.21551	4.788000	0.62439	1.084000	0.41184	0.163000	0.16589	GAT	TPTE	-	pfam_Ion_trans_dom	ENSG00000166157		0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	57	0.00	0	T			10951293	10951293	-1	no_errors	ENST00000361285	ensembl	human	known	69_37n	missense	59	21.33	16	SNP	0.997	C
TTC7A	57217	genome.wustl.edu	37	2	47202156	47202156	+	Missense_Mutation	SNP	C	C	T	rs544316606		TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr2:47202156C>T	ENST00000319190.5	+	4	930	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	TTC7A_ENST00000409245.1_Missense_Mutation_p.R154C|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.R188C|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	188					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTCCCGCTTCCGCCTGACAGA	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18164	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													94.0	88.0	90.0					2																	47202156		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.562C>T	2.37:g.47202156C>T	ENSP00000316699:p.Arg188Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R188C	ENST00000319190.5	37	c.562	CCDS33193.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223976	0.79576	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850	T;T;T	0.33654	1.83;1.82;1.4	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.917;1.0;0.962	T	0.56147	-0.8027	10	0.59425	D	0.04	-25.3998	13.9529	0.64129	0.152:0.848:0.0:0.0	.	188;154;188;154	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	C	154;188;188	ENSP00000386307:R154C;ENSP00000316699:R188C;ENSP00000378320:R188C	ENSP00000316699:R188C	R	+	1	0	TTC7A	47055660	0.997000	0.39634	0.999000	0.59377	0.883000	0.51084	3.041000	0.49807	2.798000	0.96311	0.650000	0.86243	CGC	TTC7A	-	NULL	ENSG00000068724		0.607	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7A	HGNC	protein_coding	OTTHUMT00000329667.2	30	0.00	0	C	XM_372927		47202156	47202156	+1	no_errors	ENST00000319190	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	0.995	T
TTN	7273	genome.wustl.edu	37	2	179448488	179448488	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr2:179448488G>C	ENST00000591111.1	-	262	60722	c.60498C>G	c.(60496-60498)tgC>tgG	p.C20166W	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C12934W|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C12867W|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C19239W|TTN_ENST00000589042.1_Missense_Mutation_p.C21807W|TTN_ENST00000460472.2_Missense_Mutation_p.C12742W|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20166	Fibronectin type-III 46. {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)			GTGCAGTATTGCACCGTACCC	0.463																																						dbGAP											0													69.0	65.0	66.0					2																	179448488		1885	4109	5994	-	-	-	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.60498C>G	2.37:g.179448488G>C	ENSP00000465570:p.Cys20166Trp	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.C19239W	ENST00000591111.1	37	c.57717		2	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984050	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.02	2.22	0.28083	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70055	0.3180	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.985;0.985;0.985;0.985	T	0.71781	-0.4489	9	0.87932	D	0	.	10.8732	0.46896	0.2558:0.0:0.7442:0.0	.	12742;12867;12934;20166	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	19239;12742;12934;12867;12740	ENSP00000343764:C19239W;ENSP00000434586:C12742W;ENSP00000340554:C12934W;ENSP00000352154:C12867W	ENSP00000340554:C12934W	C	-	3	2	TTN	179156734	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.408000	0.44574	0.443000	0.26582	-0.140000	0.14226	TGC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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	40	0.00	0	G	NM_133378		179448488	179448488	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	1.000	C
ZNF425	155054	genome.wustl.edu	37	7	148801215	148801215	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr7:148801215G>T	ENST00000378061.2	-	4	1880	c.1748C>A	c.(1747-1749)gCg>gAg	p.A583E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	583					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCACCGCACGCGAAGGGCTT	0.602																																						dbGAP											0													79.0	66.0	70.0					7																	148801215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1748C>A	7.37:g.148801215G>T	ENSP00000367300:p.Ala583Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPM1|Q08AG3	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,pfscan_Krueppel-associated_box-rel	p.A583E	ENST00000378061.2	37	c.1748	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	G	5.380	0.255398	0.10185	.	.	ENSG00000204947	ENST00000378061	T	0.08193	3.12	3.11	0.0219	0.14131	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45687	-0.9244	9	0.07482	T	0.82	.	0.7437	0.00978	0.2333:0.2085:0.3754:0.1828	.	583	Q6IV72	ZN425_HUMAN	E	583	ENSP00000367300:A583E	ENSP00000367300:A583E	A	-	2	0	ZNF425	148432148	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.740000	0.00191	-0.133000	0.11537	-1.114000	0.02060	GCG	ZNF425	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.602	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	18	0.00	0	G	XM_088140		148801215	148801215	-1	no_errors	ENST00000378061	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	0.000	T
ZNF425	155054	genome.wustl.edu	37	7	148802311	148802311	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr7:148802311A>C	ENST00000378061.2	-	4	784	c.652T>G	c.(652-654)Tgc>Ggc	p.C218G		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	218					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGGTATCTGCAGAGCTGGCTC	0.522																																						dbGAP											0													72.0	76.0	75.0					7																	148802311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.652T>G	7.37:g.148802311A>C	ENSP00000367300:p.Cys218Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPM1|Q08AG3	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,pfscan_Krueppel-associated_box-rel	p.C218G	ENST00000378061.2	37	c.652	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	A	2.438	-0.329187	0.05314	.	.	ENSG00000204947	ENST00000378061	T	0.08102	3.13	2.62	-0.128	0.13506	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.15870	0.014	T	0.39014	-0.9634	9	0.72032	D	0.01	.	7.8767	0.29597	0.7691:0.0:0.2309:0.0	.	218	Q6IV72	ZN425_HUMAN	G	218	ENSP00000367300:C218G	ENSP00000367300:C218G	C	-	1	0	ZNF425	148433244	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.228000	0.09114	-0.551000	0.06175	-1.139000	0.01908	TGC	ZNF425	-	NULL	ENSG00000204947		0.522	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	57	0.00	0	A	XM_088140		148802311	148802311	-1	no_errors	ENST00000378061	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	0.000	C
ZNF496	84838	genome.wustl.edu	37	1	247492666	247492666	+	Missense_Mutation	SNP	C	C	A	rs146923642	byFrequency	TCGA-AR-A24Z-01A-11D-A167-09	TCGA-AR-A24Z-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c11f2060-d3fb-4e3d-8058-b8cce44af519	e7976863-3bbf-42ac-b272-ccd7ca5bf679	g.chr1:247492666C>A	ENST00000294753.4	-	3	679	c.215G>T	c.(214-216)cGg>cTg	p.R72L	ZNF496_ENST00000366498.2_Missense_Mutation_p.R72L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	72	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CCTCTCAGGCCGCAGCCAGCC	0.706																																						dbGAP											0													20.0	25.0	23.0					1																	247492666		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.215G>T	1.37:g.247492666C>A	ENSP00000294753:p.Arg72Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R72L	ENST00000294753.4	37	c.215	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065040	0.76187	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06371	3.31;3.31	4.27	3.35	0.38373	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.45867	D	0.000327	T	0.24736	0.0600	H	0.97365	3.99	0.27435	N	0.953895	P;P	0.52170	0.773;0.951	B;P	0.50537	0.357;0.643	T	0.37384	-0.9708	9	.	.	.	-29.6142	8.1686	0.31241	0.0:0.8894:0.0:0.1106	.	72;72	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	L	72	ENSP00000294753:R72L;ENSP00000355454:R72L	.	R	-	2	0	ZNF496	245559289	0.934000	0.31675	0.657000	0.29651	0.986000	0.74619	1.079000	0.30766	1.158000	0.42547	0.561000	0.74099	CGG	ZNF496	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000162714		0.706	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	37	0.00	0	C	NM_032752		247492666	247492666	-1	no_errors	ENST00000366498	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	0.677	A
