#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AADAC	13	genome.wustl.edu	37	3	151545656	151545656	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr3:151545656A>G	ENST00000232892.7	+	5	1022	c.896A>G	c.(895-897)aAt>aGt	p.N299S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	299					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTTTATAACAATCCAAATTAT	0.413																																					Ovarian(30;839 841 2699 32801 46334)	dbGAP											0													46.0	48.0	48.0					3																	151545656		2203	4298	6501	-	-	-	SO:0001583	missense	0			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.896A>G	3.37:g.151545656A>G	ENSP00000232892:p.Asn299Ser		A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase	p.N299S	ENST00000232892.7	37	c.896	CCDS33877.1	3	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.446353	0.01089	.	.	ENSG00000114771	ENST00000232892	T	0.61510	0.1	4.81	-6.71	0.01760	.	0.765033	0.13439	N	0.387835	T	0.23572	0.0570	N	0.05230	-0.09	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35251	-0.9796	10	0.09843	T	0.71	-13.9991	7.2829	0.26322	0.2826:0.3387:0.3788:0.0	.	299	P22760	AAAD_HUMAN	S	299	ENSP00000232892:N299S	ENSP00000232892:N299S	N	+	2	0	AADAC	153028346	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.674000	0.05233	-0.791000	0.04486	0.482000	0.46254	AAT	AADAC	-	pirsf_Arylacetamide_deacetylase	ENSG00000114771		0.413	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADAC	HGNC	protein_coding	OTTHUMT00000357883.2	153	0.00	0	A	NM_001086		151545656	151545656	+1	no_errors	ENST00000232892	ensembl	human	known	69_37n	missense	149	19.02	35	SNP	0.000	G
ABCG1	9619	genome.wustl.edu	37	21	43645875	43645875	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr21:43645875C>T	ENST00000361802.2	+	2	282	c.137C>T	c.(136-138)aCg>aTg	p.T46M	ABCG1_ENST00000343687.3_Missense_Mutation_p.T57M|ABCG1_ENST00000398449.3_Missense_Mutation_p.T46M|ABCG1_ENST00000347800.2_Missense_Mutation_p.T43M|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.T48M	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	46					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCCACTGAGACGGACCTGCTG	0.527																																						dbGAP											0													126.0	114.0	118.0					21																	43645875		2203	4300	6503	-	-	-	SO:0001583	missense	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.137C>T	21.37:g.43645875C>T	ENSP00000354995:p.Thr46Met		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.T46M	ENST00000361802.2	37	c.137	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822502	0.32237	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687	D;D;D;D;D;D	0.85258	-1.95;-1.96;-1.7;-1.94;-1.9;-1.96	4.99	2.13	0.27403	.	.	.	.	.	T	0.76456	0.3990	L	0.41236	1.265	0.80722	D	1	P;P;P;P;P;B	0.44659	0.646;0.84;0.654;0.84;0.84;0.001	B;B;B;B;B;B	0.42555	0.186;0.391;0.201;0.277;0.391;0.002	T	0.67856	-0.5562	8	.	.	.	.	4.7244	0.12935	0.2897:0.5184:0.0:0.1919	.	57;57;46;46;43;48	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	M	48;43;46;46;46;57	ENSP00000381475:T48M;ENSP00000291524:T43M;ENSP00000414541:T46M;ENSP00000381467:T46M;ENSP00000354995:T46M;ENSP00000339744:T57M	.	T	+	2	0	ABCG1	42518944	0.383000	0.25156	0.895000	0.35142	0.641000	0.38312	0.989000	0.29629	0.217000	0.20800	0.561000	0.74099	ACG	ABCG1	-	NULL	ENSG00000160179		0.527	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	74	0.00	0	C	NM_207174		43645875	43645875	+1	no_errors	ENST00000361802	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	0.946	T
ADAM29	11086	genome.wustl.edu	37	4	175896776	175896776	+	Missense_Mutation	SNP	G	G	T	rs373362630		TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr4:175896776G>T	ENST00000359240.3	+	5	770	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	ADAM29_ENST00000445694.1_Missense_Mutation_p.V34L|ADAM29_ENST00000514159.1_Missense_Mutation_p.V34L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.V34L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	34					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCCGGATGTGGTGATTCCTGT	0.527																																					Ovarian(140;1727 1835 21805 25838 41440)	dbGAP											0													81.0	79.0	80.0					4																	175896776		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.100G>T	4.37:g.175896776G>T	ENSP00000352177:p.Val34Leu		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V34L	ENST00000359240.3	37	c.100	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673800	0.29693	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000502305;ENST00000404450;ENST00000514159	T;T;T;T;T;T	0.68479	2.98;2.98;2.98;-0.33;2.98;2.98	4.36	4.36	0.52297	Peptidase M12B, propeptide (1);	0.000000	0.32655	U	0.005818	D	0.85860	0.5795	H	0.95539	3.685	0.25042	N	0.9912	D	0.89917	1.0	D	0.97110	1.0	T	0.79729	-0.1681	9	.	.	.	.	12.587	0.56423	0.0:0.0:1.0:0.0	.	34	Q9UKF5	ADA29_HUMAN	L	34	ENSP00000352177:V34L;ENSP00000414544:V34L;ENSP00000427674:V34L;ENSP00000422537:V34L;ENSP00000384229:V34L;ENSP00000423517:V34L	.	V	+	1	0	ADAM29	176133351	0.933000	0.31639	0.862000	0.33874	0.051000	0.14879	1.671000	0.37513	2.427000	0.82271	0.637000	0.83480	GTG	ADAM29	-	pfam_Peptidase_M12B_N	ENSG00000168594		0.527	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		88	0.00	0	G			175896776	175896776	+1	no_errors	ENST00000359240	ensembl	human	known	69_37n	missense	60	42.31	44	SNP	0.994	T
AMDHD1	144193	genome.wustl.edu	37	12	96360235	96360235	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr12:96360235G>C	ENST00000266736.2	+	8	1248	c.1142G>C	c.(1141-1143)gGa>gCa	p.G381A		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	381					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CACACACACGGATCGTTGGAA	0.473																																						dbGAP											0													237.0	214.0	222.0					12																	96360235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.1142G>C	12.37:g.96360235G>C	ENSP00000266736:p.Gly381Ala		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.G381A	ENST00000266736.2	37	c.1142	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.084725	0.94100	.	.	ENSG00000139344	ENST00000266736	D	0.92911	-3.13	5.82	5.82	0.92795	Amidohydrolase 3 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98581	1.0650	10	0.87932	D	0	1.8377	20.093	0.97828	0.0:0.0:1.0:0.0	.	381	Q96NU7	HUTI_HUMAN	A	381	ENSP00000266736:G381A	ENSP00000266736:G381A	G	+	2	0	AMDHD1	94884366	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	GGA	AMDHD1	-	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	ENSG00000139344		0.473	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	138	0.00	0	G	NM_152435		96360235	96360235	+1	no_errors	ENST00000266736	ensembl	human	known	69_37n	missense	157	13.19	24	SNP	1.000	C
CHSY3	337876	genome.wustl.edu	37	5	129243980	129243980	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr5:129243980C>A	ENST00000305031.4	+	2	1371	c.1013C>A	c.(1012-1014)aCg>aAg	p.T338K	CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	338					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.T338M(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAAATGTACACGACTCATGAG	0.483																																						dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											173.0	144.0	154.0					5																	129243980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1013C>A	5.37:g.129243980C>A	ENSP00000302629:p.Thr338Lys		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.T338K	ENST00000305031.4	37	c.1013	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807721	0.90623	.	.	ENSG00000198108	ENST00000305031	T	0.18502	2.21	4.33	4.33	0.51752	.	0.000000	0.38548	N	0.001652	T	0.45155	0.1328	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.44314	-0.9336	9	.	.	.	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	338	Q70JA7	CHSS3_HUMAN	K	338	ENSP00000302629:T338K	.	T	+	2	0	CHSY3	129271879	1.000000	0.71417	0.961000	0.40146	0.975000	0.68041	7.609000	0.82925	2.690000	0.91761	0.591000	0.81541	ACG	CHSY3	-	pfam_Chond_GalNAc,pfam_Fringe-like	ENSG00000198108		0.483	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	43	0.00	0	C	NM_175856		129243980	129243980	+1	no_errors	ENST00000305031	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	A
CNTN1	1272	genome.wustl.edu	37	12	41352942	41352942	+	Silent	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr12:41352942C>T	ENST00000551295.2	+	15	1827	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	CNTN1_ENST00000360099.3_Silent_p.I570I|CNTN1_ENST00000348761.2_Silent_p.I559I|CNTN1_ENST00000547702.1_Silent_p.I570I|CNTN1_ENST00000347616.1_Silent_p.I570I|CNTN1_ENST00000547849.1_Silent_p.I570I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	570	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AATTACTAATCCGAAATGCGC	0.408																																						dbGAP											0													93.0	85.0	88.0					12																	41352942		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1710C>T	12.37:g.41352942C>T			A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I570	ENST00000551295.2	37	c.1710	CCDS8737.1	12																																																																																			CNTN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000018236		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	136	0.00	0	C	NM_001843		41352942	41352942	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	silent	210	12.50	30	SNP	0.993	T
CTSA	5476	genome.wustl.edu	37	20	44521044	44521044	+	Missense_Mutation	SNP	A	A	T	rs199735882		TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr20:44521044A>T	ENST00000372459.2	+	4	558	c.365A>T	c.(364-366)aAt>aTt	p.N122I	CTSA_ENST00000354880.5_Missense_Mutation_p.N123I|CTSA_ENST00000191018.5_Missense_Mutation_p.N122I|CTSA_ENST00000372484.3_Missense_Mutation_p.N140I|RP3-337O18.9_ENST00000607703.1_RNA|NEURL2_ENST00000372518.4_5'Flank			P10619	PPGB_HUMAN	cathepsin A	122					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TAGATTGCCAATGTGTTATAC	0.512																																						dbGAP											0													169.0	166.0	167.0					20																	44521044		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.365A>T	20.37:g.44521044A>T	ENSP00000361537:p.Asn122Ile		B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.N140I	ENST00000372459.2	37	c.419	CCDS46609.1	20	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465171	0.84425	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	6.03	4.94	0.65067	.	0.040549	0.85682	D	0.000000	D	0.97945	0.9324	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.98262	1.0499	10	0.87932	D	0	-13.0318	10.8905	0.46992	0.9275:0.0:0.0725:0.0	.	122;122;139	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	I	123;140;122;105;122	ENSP00000346952:N123I;ENSP00000361562:N140I;ENSP00000191018:N122I;ENSP00000408533:N105I;ENSP00000361537:N122I	ENSP00000191018:N122I	N	+	2	0	CTSA	43954451	0.847000	0.29606	0.919000	0.36401	0.851000	0.48451	1.699000	0.37804	2.308000	0.77769	0.533000	0.62120	AAT	CTSA	-	pfam_Peptidase_S10,prints_Peptidase_S10	ENSG00000064601		0.512	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CTSA	HGNC	protein_coding	OTTHUMT00000471297.2	91	0.00	0	A	NM_000308		44521044	44521044	+1	no_errors	ENST00000372484	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	0.987	T
DCAF12L1	139170	genome.wustl.edu	37	X	125685532	125685532	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chrX:125685532G>A	ENST00000371126.1	-	1	1302	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	354										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTCAGCGACCGCACGCCTGTG	0.622																																						dbGAP											0													33.0	34.0	33.0					X																	125685532		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1060C>T	X.37:g.125685532G>A	ENSP00000360167:p.Arg354Trp		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R354W	ENST00000371126.1	37	c.1060	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282061	0.40394	.	.	ENSG00000198889	ENST00000371126	T	0.63913	-0.07	3.64	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36409	N	0.002616	T	0.73892	0.3645	M	0.83774	2.66	0.36501	D	0.869021	D	0.76494	0.999	P	0.61722	0.893	T	0.77395	-0.2604	10	0.42905	T	0.14	.	8.4392	0.32805	0.1222:0.0:0.8778:0.0	.	354	Q5VU92	DC121_HUMAN	W	354	ENSP00000360167:R354W	ENSP00000360167:R354W	R	-	1	2	DCAF12L1	125513213	1.000000	0.71417	0.005000	0.12908	0.147000	0.21601	6.103000	0.71492	0.920000	0.36970	0.429000	0.28392	CGG	DCAF12L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198889		0.622	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	35	0.00	0	G	NM_178470		125685532	125685532	-1	no_errors	ENST00000371126	ensembl	human	known	69_37n	missense	36	33.33	18	SNP	0.945	A
DCT	1638	genome.wustl.edu	37	13	95118847	95118847	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr13:95118847G>A	ENST00000377028.5	-	3	1074	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	DCT_ENST00000446125.1_Missense_Mutation_p.R221W|AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	221					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAATGGTACCGGTGCCAGGTA	0.383																																						dbGAP											0													65.0	67.0	66.0					13																	95118847		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.661C>T	13.37:g.95118847G>A	ENSP00000366227:p.Arg221Trp		Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.R221W	ENST00000377028.5	37	c.661	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459048	0.63401	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99930	-8.15;-8.15	5.64	1.23	0.21249	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.045100	0.85682	D	0.000000	D	0.99937	0.9972	H	0.96365	3.81	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96383	0.9283	10	0.87932	D	0	-24.1295	16.4493	0.83974	0.0:0.0:0.4685:0.5315	.	221;221	Q09GT4;P40126	.;TYRP2_HUMAN	W	221	ENSP00000366227:R221W;ENSP00000392762:R221W	ENSP00000366227:R221W	R	-	1	2	DCT	93916848	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	0.464000	0.21988	0.016000	0.14998	-1.367000	0.01198	CGG	DCT	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	ENSG00000080166		0.383	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	156	0.00	0	G			95118847	95118847	-1	no_errors	ENST00000446125	ensembl	human	known	69_37n	missense	72	24.21	23	SNP	0.992	A
DMRT3	58524	genome.wustl.edu	37	9	990144	990144	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr9:990144T>A	ENST00000190165.2	+	2	596	c.558T>A	c.(556-558)agT>agA	p.S186R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	186					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGGCAAAGAGTAAGGGCTGCT	0.557																																						dbGAP											0													62.0	65.0	64.0					9																	990144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.558T>A	9.37:g.990144T>A	ENSP00000190165:p.Ser186Arg		Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S186R	ENST00000190165.2	37	c.558	CCDS6443.1	9	.	.	.	.	.	.	.	.	.	.	T	7.755	0.704259	0.15172	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.30448	1.53;1.53	4.93	-2.22	0.06952	.	0.509489	0.22285	N	0.062072	T	0.19725	0.0474	L	0.47716	1.5	0.28572	N	0.910581	P	0.34462	0.454	B	0.29663	0.105	T	0.13656	-1.0501	10	0.30078	T	0.28	-15.5358	9.1253	0.36812	0.1436:0.6381:0.0:0.2183	.	186	Q9NQL9	DMRT3_HUMAN	R	186;49	ENSP00000190165:S186R;ENSP00000387472:S49R	ENSP00000190165:S186R	S	+	3	2	DMRT3	980144	0.001000	0.12720	0.448000	0.26945	0.459000	0.32528	-0.605000	0.05661	-0.425000	0.07371	0.455000	0.32223	AGT	DMRT3	-	NULL	ENSG00000064218		0.557	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT3	HGNC	protein_coding	OTTHUMT00000051490.1	68	0.00	0	T	NM_021240		990144	990144	+1	no_errors	ENST00000190165	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	0.862	A
EIF2B3	8891	genome.wustl.edu	37	1	45363093	45363093	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr1:45363093G>A	ENST00000360403.2	-	6	716	c.590C>T	c.(589-591)aCg>aTg	p.T197M	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T197M	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	197					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CACAAGACCCGTGTGGAAACG	0.388																																					Colon(26;357 658 2581 11857 12657)	dbGAP											0													56.0	53.0	54.0					1																	45363093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.590C>T	1.37:g.45363093G>A	ENSP00000353575:p.Thr197Met		B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	pfam_NTP_transferase	p.T197M	ENST00000360403.2	37	c.590	CCDS517.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.93|15.93	2.977667|2.977667	0.53720|0.53720	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000439363|ENST00000360403;ENST00000372183	.|D;D	.|0.88354	.|-2.37;-2.37	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.050426	.|0.85682	.|D	.|0.000000	D|D	0.90573|0.90573	0.7045|0.7045	M|M	0.64080|0.64080	1.96|1.96	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.61080	.|0.976;0.989;0.959	.|P;P;B	.|0.51101	.|0.659;0.568;0.379	D|D	0.91452|0.91452	0.5182|0.5182	5|10	.|0.62326	.|D	.|0.03	-20.9596|-20.9596	15.6741|15.6741	0.77300|0.77300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|197;197;197	.|Q9NR50-2;Q9NR50-3;Q9NR50	.|.;.;EI2BG_HUMAN	W|M	18|197	.|ENSP00000353575:T197M;ENSP00000361257:T197M	.|ENSP00000353575:T197M	R|T	-|-	1|2	2|0	EIF2B3|EIF2B3	45135680|45135680	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.421000|0.421000	0.31385|0.31385	7.240000|7.240000	0.78192|0.78192	2.439000|2.439000	0.82584|0.82584	0.467000|0.467000	0.42956|0.42956	CGG|ACG	EIF2B3	-	NULL	ENSG00000070785		0.388	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	HGNC	protein_coding	OTTHUMT00000023724.1	52	0.00	0	G	NM_020365		45363093	45363093	-1	no_errors	ENST00000360403	ensembl	human	known	69_37n	missense	38	18.75	9	SNP	1.000	A
DOCK7	85440	genome.wustl.edu	37	1	63084424	63084424	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr1:63084424G>C	ENST00000340370.5	-	14	1652	c.1635C>G	c.(1633-1635)atC>atG	p.I545M	DOCK7_ENST00000251157.5_Missense_Mutation_p.I545M|DOCK7_ENST00000404627.2_Missense_Mutation_p.I545M	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	545					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAACTCTAAGATTTCTCTGG	0.393																																						dbGAP											0													97.0	103.0	101.0					1																	63084424		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1635C>G	1.37:g.63084424G>C	ENSP00000340742:p.Ile545Met		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.I545M	ENST00000340370.5	37	c.1635	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732403	0.48939	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.43294	0.95;0.95;0.95	5.35	1.6	0.23607	.	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	M	0.73430	2.235	0.51767	D	0.999935	P;P;P;B;P	0.51147	0.942;0.548;0.548;0.199;0.516	P;B;B;B;B	0.46389	0.515;0.328;0.328;0.14;0.328	T	0.10109	-1.0644	10	0.59425	D	0.04	.	3.103	0.06333	0.4016:0.0:0.3928:0.2056	.	545;545;545;545;545	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	M	545	ENSP00000251157:I545M;ENSP00000340742:I545M;ENSP00000384446:I545M	ENSP00000251157:I545M	I	-	3	3	DOCK7	62857012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.491000	0.35583	0.496000	0.27904	-0.300000	0.09419	ATC	DOCK7	-	NULL	ENSG00000116641		0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	149	0.00	0	G	NM_033407		63084424	63084424	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	missense	101	40.24	68	SNP	1.000	C
FAM149A	25854	genome.wustl.edu	37	4	187074851	187074851	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr4:187074851C>A	ENST00000356371.5	+	5	1012	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K	FAM149A_ENST00000503432.1_Missense_Mutation_p.Q47K|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.Q47K|FAM149A_ENST00000502970.1_Missense_Mutation_p.Q47K|FAM149A_ENST00000389354.5_Missense_Mutation_p.Q47K|FAM149A_ENST00000514153.1_Missense_Mutation_p.Q47K			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	338										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCAGCATTTCCAGGGCAGCAC	0.517																																						dbGAP											0													121.0	130.0	127.0					4																	187074851		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1012C>A	4.37:g.187074851C>A	ENSP00000348732:p.Gln338Lys		B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	pfam_DUF3719	p.Q338K	ENST00000356371.5	37	c.1012		4	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757106	0.49468	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000504330;ENST00000510790;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.45	5.45	0.79879	.	0.282570	0.29745	N	0.011309	T	0.59729	0.2215	M	0.72118	2.19	0.33315	D	0.566525	P;D;D	0.54964	0.794;0.969;0.961	P;P;P	0.56127	0.487;0.792;0.757	T	0.68629	-0.5358	10	0.48119	T	0.1	-8.164	18.4853	0.90827	0.0:1.0:0.0:0.0	.	338;338;47	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	K	47;338;47;47;47;47;47;47	ENSP00000426835:Q47K;ENSP00000348732:Q338K;ENSP00000422330:Q47K;ENSP00000421713:Q47K;ENSP00000227065:Q47K;ENSP00000427155:Q47K;ENSP00000424380:Q47K;ENSP00000374005:Q47K	ENSP00000227065:Q47K	Q	+	1	0	FAM149A	187311845	0.999000	0.42202	0.794000	0.32065	0.010000	0.07245	3.240000	0.51368	2.742000	0.94016	0.650000	0.86243	CAG	FAM149A	-	pfam_DUF3719	ENSG00000109794		0.517	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding		212	0.00	0	C	NM_001006655		187074851	187074851	+1	no_errors	ENST00000356371	ensembl	human	known	69_37n	missense	127	15.33	23	SNP	0.993	A
FMNL2	114793	genome.wustl.edu	37	2	153504368	153504368	+	Silent	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr2:153504368C>T	ENST00000288670.9	+	26	3595	c.3228C>T	c.(3226-3228)cgC>cgT	p.R1076R	FMNL2_ENST00000475377.2_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	0	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCAGGCGGCGCTTTGATGATC	0.488																																						dbGAP											0													183.0	189.0	187.0					2																	153504368		2007	4168	6175	-	-	-	SO:0001819	synonymous_variant	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.3228C>T	2.37:g.153504368C>T			B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour	p.R1076	ENST00000288670.9	37	c.3228	CCDS46429.1	2																																																																																			FMNL2	-	NULL	ENSG00000157827		0.488	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333582.2	210	0.00	0	C	NM_052905		153504368	153504368	+1	no_errors	ENST00000288670	ensembl	human	known	69_37n	silent	118	15.00	21	SNP	1.000	T
FOXA1	3169	genome.wustl.edu	37	14	38061410	38061410	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr14:38061410delC	ENST00000250448.2	-	2	640	c.579delG	c.(577-579)ctgfs	p.L193fs	FOXA1_ENST00000540786.1_Frame_Shift_Del_p.L160fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	193					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGATCTCGCTCAGCGTGAGCA	0.592																																						dbGAP											0													106.0	97.0	100.0					14																	38061410		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.579delG	14.37:g.38061410delC	ENSP00000250448:p.Leu193fs		B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S194fs	ENST00000250448.2	37	c.579	CCDS9665.1	14																																																																																			FOXA1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000129514		0.592	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	31	0.00	0	C			38061410	38061410	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	frame_shift_del	12	33.33	6	DEL	0.998	-
GBP4	115361	genome.wustl.edu	37	1	89651075	89651075	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr1:89651075T>G	ENST00000355754.6	-	11	1882	c.1785A>C	c.(1783-1785)gaA>gaC	p.E595D	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	595						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TTTCAATTTTTTCTTTCAGTT	0.343																																						dbGAP											0													115.0	102.0	107.0					1																	89651075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1785A>C	1.37:g.89651075T>G	ENSP00000359490:p.Glu595Asp		B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.E595D	ENST00000355754.6	37	c.1785	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297249	0.23650	.	.	ENSG00000162654	ENST00000355754	T	0.54675	0.56	4.54	-1.27	0.09347	Guanylate-binding protein, C-terminal (1);	0.723385	0.13086	N	0.414928	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.30736	-0.9968	10	0.33940	T	0.23	.	5.5879	0.17285	0.2711:0.0:0.2803:0.4486	.	595	Q96PP9	GBP4_HUMAN	D	595	ENSP00000359490:E595D	ENSP00000359490:E595D	E	-	3	2	GBP4	89423663	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.440000	0.21592	-0.050000	0.13356	-0.323000	0.08544	GAA	GBP4	-	superfamily_Guanylate-bd_C	ENSG00000162654		0.343	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	HGNC	protein_coding	OTTHUMT00000029409.1	229	0.00	0	T	NM_052941		89651075	89651075	-1	no_errors	ENST00000355754	ensembl	human	known	69_37n	missense	153	18.62	35	SNP	0.000	G
GRIK1	2897	genome.wustl.edu	37	21	31023551	31023551	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr21:31023551G>A	ENST00000399907.1	-	6	1252	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	GRIK1_ENST00000389124.2_Missense_Mutation_p.R281W|GRIK1_ENST00000309434.7_Missense_Mutation_p.R281W|GRIK1_ENST00000327783.4_Missense_Mutation_p.R281W|GRIK1_ENST00000389125.3_Missense_Mutation_p.R281W|GRIK1_ENST00000399913.1_Missense_Mutation_p.R281W|GRIK1_ENST00000535441.1_Missense_Mutation_p.R281W|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.R281W|GRIK1_ENST00000399914.1_Missense_Mutation_p.R281W	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	281				R -> G (in Ref. 2; AAA95961). {ECO:0000305}.	adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTAAGCAGCCGAAACCCGGTC	0.473																																						dbGAP											0													79.0	65.0	70.0					21																	31023551		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.841C>T	21.37:g.31023551G>A	ENSP00000382791:p.Arg281Trp		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R281W	ENST00000399907.1	37	c.841	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853705	0.51270	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.11	4.22	0.49857	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93383	0.7890	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94797	0.7967	10	0.87932	D	0	.	15.0684	0.72014	0.0:0.0:0.8569:0.1431	.	281;281;281;281;281;281	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	W	281;281;281;281;281;225;281;281;281;281	ENSP00000327687:R281W;ENSP00000373777:R281W;ENSP00000382797:R281W;ENSP00000382798:R281W;ENSP00000446326:R281W;ENSP00000373776:R281W;ENSP00000382791:R281W;ENSP00000382793:R281W;ENSP00000311646:R281W	ENSP00000311646:R281W	R	-	1	2	GRIK1	29945422	1.000000	0.71417	0.999000	0.59377	0.095000	0.18619	4.733000	0.62036	1.487000	0.48415	0.655000	0.94253	CGG	GRIK1	-	pfam_ANF_lig-bd_rcpt	ENSG00000171189		0.473	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	68	0.00	0	G			31023551	31023551	-1	no_errors	ENST00000535441	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	A
HEG1	57493	genome.wustl.edu	37	3	124746052	124746052	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr3:124746052A>G	ENST00000311127.4	-	3	977	c.910T>C	c.(910-912)Tca>Cca	p.S304P		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	304					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CACTCACATGAGGAAAGGTCT	0.468																																						dbGAP											0													40.0	43.0	42.0					3																	124746052		1984	4150	6134	-	-	-	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.910T>C	3.37:g.124746052A>G	ENSP00000311502:p.Ser304Pro		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.S304P	ENST00000311127.4	37	c.910	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916479	0.52546	.	.	ENSG00000173706	ENST00000311127	T	0.47177	0.85	4.78	-7.56	0.01322	.	.	.	.	.	T	0.34745	0.0908	L	0.56769	1.78	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.16722	0.016;0.007	T	0.43245	-0.9403	9	0.72032	D	0.01	.	2.8948	0.05687	0.3968:0.3644:0.0751:0.1636	.	304;304	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	P	304	ENSP00000311502:S304P	ENSP00000311502:S304P	S	-	1	0	HEG1	126228742	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-1.485000	0.02314	-1.507000	0.01803	0.528000	0.53228	TCA	HEG1	-	NULL	ENSG00000173706		0.468	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	69	0.00	0	A	XM_087386		124746052	124746052	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	missense	24	60.00	36	SNP	0.000	G
IGSF1	3547	genome.wustl.edu	37	X	130409529	130409529	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chrX:130409529T>C	ENST00000361420.3	-	16	3186	c.3107A>G	c.(3106-3108)tAc>tGc	p.Y1036C	IGSF1_ENST00000370904.1_Missense_Mutation_p.Y1027C|IGSF1_ENST00000370903.3_Missense_Mutation_p.Y1041C|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.Y1027C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1036	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.Y1036C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCAGCAGCTGTAACGCCCCAT	0.517																																						dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											158.0	131.0	140.0					X																	130409529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3107A>G	X.37:g.130409529T>C	ENSP00000355010:p.Tyr1036Cys		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y1041C	ENST00000361420.3	37	c.3122	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699232	0.48307	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.06142	3.34;3.34;3.34;3.34	4.67	4.67	0.58626	Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000713	T	0.34019	0.0883	H	0.96365	3.81	0.44762	D	0.997766	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.41016	-0.9532	10	0.87932	D	0	.	9.4089	0.38480	0.0:0.0:0.0:1.0	.	1027;480;1036	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	1027;1036;1027;1041	ENSP00000359947:Y1027C;ENSP00000355010:Y1036C;ENSP00000359941:Y1027C;ENSP00000359940:Y1041C	ENSP00000355010:Y1036C	Y	-	2	0	IGSF1	130237210	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.834000	0.55798	2.045000	0.60652	0.486000	0.48141	TAC	IGSF1	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000147255		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	345	0.00	0	T			130409529	130409529	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	227	15.87	43	SNP	1.000	C
IL10RA	3587	genome.wustl.edu	37	11	117864082	117864082	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr11:117864082G>A	ENST00000227752.3	+	4	614	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	IL10RA_ENST00000541785.1_Missense_Mutation_p.R145Q|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.R16Q	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	165					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AGTCACTTCCGAGAGTATGAG	0.557																																						dbGAP											0													92.0	82.0	85.0					11																	117864082		2200	4296	6496	-	-	-	SO:0001583	missense	0			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.494G>A	11.37:g.117864082G>A	ENSP00000227752:p.Arg165Gln		A8K6I0|B0YJ27	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.R165Q	ENST00000227752.3	37	c.494	CCDS8388.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.602191	0.96614	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.59364	0.27;0.27;0.27	5.73	5.73	0.89815	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.322553	0.30611	N	0.009246	T	0.73118	0.3546	M	0.71581	2.175	0.36140	D	0.846746	D;D	0.89917	1.0;1.0	D;P	0.64877	0.93;0.853	T	0.78425	-0.2209	10	0.49607	T	0.09	-32.1779	15.3949	0.74784	0.0:0.0:1.0:0.0	.	145;165	F5GYV8;Q13651	.;I10R1_HUMAN	Q	165;145;16;145	ENSP00000227752:R165Q;ENSP00000441397:R145Q;ENSP00000443019:R16Q	ENSP00000227752:R165Q	R	+	2	0	IL10RA	117369292	0.999000	0.42202	0.848000	0.33437	0.993000	0.82548	4.480000	0.60243	2.699000	0.92147	0.655000	0.94253	CGA	IL10RA	-	superfamily_Fibronectin_type3	ENSG00000110324		0.557	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	HGNC	protein_coding	OTTHUMT00000390167.1	52	0.00	0	G			117864082	117864082	+1	no_errors	ENST00000227752	ensembl	human	known	69_37n	missense	17	52.78	19	SNP	0.978	A
MAP3K1	4214	genome.wustl.edu	37	5	56160679	56160680	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr5:56160679_56160680insA	ENST00000399503.3	+	4	953_954	c.953_954insA	c.(952-957)ttactgfs	p.L319fs	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	319					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.L155*(1)|p.L318*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACTGTACTTACTGCAGCAGA	0.51																																						dbGAP											2	Substitution - Nonsense(2)	kidney(2)																																								-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.954dupA	5.37:g.56160680_56160680dupA	ENSP00000382423:p.Leu319fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.L319fs	ENST00000399503.3	37	c.953_954	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.510	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	99	0.00	0	-	XM_042066		56160679	56160680	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	55	46.60	48	INS	0.965:0.937	A
MAP3K1	4214	genome.wustl.edu	37	5	56181765	56181765	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr5:56181765C>G	ENST00000399503.3	+	17	3989	c.3989C>G	c.(3988-3990)tCg>tGg	p.S1330W		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343																																						dbGAP											0													76.0	70.0	72.0					5																	56181765		1823	4067	5890	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3989C>G	5.37:g.56181765C>G	ENSP00000382423:p.Ser1330Trp			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.S1330W	ENST00000399503.3	37	c.3989	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153404	0.78114	.	.	ENSG00000095015	ENST00000399503	T	0.31247	1.5	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82954	-0.0201	10	0.87932	D	0	.	19.414	0.94688	0.0:1.0:0.0:0.0	.	1330	Q13233	M3K1_HUMAN	W	1330	ENSP00000382423:S1330W	ENSP00000382423:S1330W	S	+	2	0	MAP3K1	56217522	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.743000	0.62110	2.591000	0.87537	0.655000	0.94253	TCG	MAP3K1	-	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	ENSG00000095015		0.343	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	136	0.00	0	C	XM_042066		56181765	56181765	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	101	32.21	48	SNP	1.000	G
MARC1	64757	genome.wustl.edu	37	1	220986672	220986672	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr1:220986672G>A	ENST00000366910.5	+	7	1112	c.926G>A	c.(925-927)gGa>gAa	p.G309E	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	309	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										AAGTTATATGGAAAATCACCA	0.488																																						dbGAP											0													209.0	200.0	203.0					1																	220986672		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.926G>A	1.37:g.220986672G>A	ENSP00000355877:p.Gly309Glu		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Nonsense_Mutation	SNP	pfam_MoCF_Sase_C,pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom	p.W234*	ENST00000366910.5	37	c.702	CCDS1526.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.185263|3.185263	0.57909|0.57909	.|.	.|.	ENSG00000186205|ENSG00000186205	ENST00000366910|ENST00000407981	T|.	0.21734|.	1.99|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);|.	0.473347|.	0.20048|.	N|.	0.100380|.	T|.	0.64416|.	0.2596|.	M|M	0.86420|0.86420	2.815|2.815	0.22185|0.22185	N|N	0.999303|0.999303	P;P|.	0.36789|.	0.57;0.475|.	B;P|.	0.47251|.	0.295;0.542|.	T|.	0.62840|.	-0.6769|.	10|.	0.37606|.	T|.	0.19|.	-10.256|-10.256	9.3127|9.3127	0.37915|0.37915	0.1264:0.0:0.8736:0.0|0.1264:0.0:0.8736:0.0	.|.	326;309|.	Q5VT66-2;Q5VT66|.	.;MOSC1_HUMAN|.	E|X	309|234	ENSP00000355877:G309E|.	ENSP00000355877:G309E|.	G|W	+|+	2|3	0|0	MOSC1|MOSC1	219053295|219053295	1.000000|1.000000	0.71417|0.71417	0.214000|0.214000	0.23707|0.23707	0.992000|0.992000	0.81027|0.81027	4.787000|4.787000	0.62432|0.62432	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GGA|TGG	MARC1	-	pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom	ENSG00000186205		0.488	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARC1	HGNC	protein_coding	OTTHUMT00000090904.1	257	0.00	0	G	NM_022746		220986672	220986672	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000407981	ensembl	human	putative	69_37n	nonsense	148	24.87	49	SNP	0.433	A
MUC16	94025	genome.wustl.edu	37	19	9066848	9066848	+	Silent	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr19:9066848C>T	ENST00000397910.4	-	3	20801	c.20598G>A	c.(20596-20598)gaG>gaA	p.E6866E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6868	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCAGTATCTCATGTGAGG	0.498																																						dbGAP											0													183.0	171.0	175.0					19																	9066848		2068	4220	6288	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20598G>A	19.37:g.9066848C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E6866	ENST00000397910.4	37	c.20598	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	447	0.22	1	C	NM_024690		9066848	9066848	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	296	26.73	108	SNP	0.000	T
OR4A5	81318	genome.wustl.edu	37	11	51412164	51412164	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr11:51412164T>G	ENST00000319760.6	-	1	284	c.232A>C	c.(232-234)Aag>Cag	p.K78Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAATTAACTTGGGAGAAATG	0.428																																						dbGAP											0													57.0	59.0	58.0					11																	51412164		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.232A>C	11.37:g.51412164T>G	ENSP00000367664:p.Lys78Gln		Q6IF84	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K78Q	ENST00000319760.6	37	c.232	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	10.19	1.282919	0.23392	.	.	ENSG00000221840	ENST00000319760	T	0.05649	3.41	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.561121	0.15684	N	0.249785	T	0.14570	0.0352	M	0.63843	1.955	0.20403	N	0.99991	P	0.45176	0.852	P	0.55345	0.774	T	0.02654	-1.1128	10	0.87932	D	0	.	7.8263	0.29318	0.0:0.0:0.0:1.0	.	78	Q8NH83	OR4A5_HUMAN	Q	78	ENSP00000367664:K78Q	ENSP00000367664:K78Q	K	-	1	0	OR4A5	51268740	0.053000	0.20554	0.500000	0.27589	0.011000	0.07611	1.845000	0.39279	1.143000	0.42306	0.136000	0.15936	AAG	OR4A5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000221840		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	200	0.50	1	T	NM_001005272		51412164	51412164	-1	no_errors	ENST00000319760	ensembl	human	known	69_37n	missense	278	16.96	57	SNP	0.627	G
PCDHA5	56143	genome.wustl.edu	37	5	140201481	140201481	+	Missense_Mutation	SNP	G	G	A	rs267600387		TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr5:140201481G>A	ENST00000529859.1	+	1	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G41R|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G41R|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAACACGGAACCTTCGT	0.667																																						dbGAP											0													55.0	62.0	60.0					5																	140201481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.121G>A	5.37:g.140201481G>A	ENSP00000436557:p.Gly41Arg		O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G41R	ENST00000529859.1	37	c.121	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293597	0.80914	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52754	0.65;0.65;0.65	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.78935	0.4362	H	0.96833	3.89	0.48901	D	0.999722	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.87480	0.2420	9	0.87932	D	0	.	16.1697	0.81793	0.0:0.0:1.0:0.0	.	41;41;41	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	R	41	ENSP00000433416:G41R;ENSP00000436557:G41R;ENSP00000367366:G41R	ENSP00000367366:G41R	G	+	1	0	PCDHA5	140181665	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.836000	0.99456	1.858000	0.53909	0.585000	0.79938	GGA	PCDHA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000204965		0.667	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	39	0.00	0	G	NM_018908		140201481	140201481	+1	no_errors	ENST00000529859	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	A
PCDHB7	56129	genome.wustl.edu	37	5	140554089	140554089	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr5:140554089C>T	ENST00000231137.3	+	1	1847	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGACAACTCGCCCTTCGTG	0.726																																						dbGAP											0													26.0	31.0	30.0					5																	140554089		2184	4279	6463	-	-	-	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1673C>T	5.37:g.140554089C>T	ENSP00000231137:p.Ser558Leu		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S558L	ENST00000231137.3	37	c.1673	CCDS4249.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.70|15.70	2.910817|2.910817	0.52439|0.52439	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000543636|ENST00000231137	.|T	.|0.01821	.|4.62	3.88|3.88	2.89|2.89	0.33648|0.33648	.|Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.02156|0.02156	0.0067|0.0067	L|L	0.48642|0.48642	1.525|1.525	0.24767|0.24767	N|N	0.992898|0.992898	.|P	.|0.43857	.|0.819	.|B	.|0.33121	.|0.158	T|T	0.47156|0.47156	-0.9139|-0.9139	6|9	0.87932|0.87932	D|D	0|0	.|.	13.1834|13.1834	0.59668|0.59668	0.0:0.8379:0.1621:0.0|0.0:0.8379:0.1621:0.0	.|.	.|558	.|Q9Y5E2	.|PCDB7_HUMAN	C|L	341|558	.|ENSP00000231137:S558L	ENSP00000440828:R341C|ENSP00000231137:S558L	R|S	+|+	1|2	0|0	PCDHB7|PCDHB7	140534273|140534273	0.000000|0.000000	0.05858|0.05858	0.993000|0.993000	0.49108|0.49108	0.978000|0.978000	0.69477|0.69477	0.956000|0.956000	0.29202|0.29202	2.099000|2.099000	0.63709|0.63709	0.449000|0.449000	0.29647|0.29647	CGC|TCG	PCDHB7	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113212		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	70	0.00	0	C	NM_018940		140554089	140554089	+1	no_errors	ENST00000231137	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	0.993	T
PKHD1	5314	genome.wustl.edu	37	6	51524257	51524257	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr6:51524257C>T	ENST00000371117.3	-	61	10942	c.10667G>A	c.(10666-10668)cGc>cAc	p.R3556H		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3556					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACACCTGAGCGTATTTCAAT	0.408																																						dbGAP											0													72.0	71.0	71.0					6																	51524257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10667G>A	6.37:g.51524257C>T	ENSP00000360158:p.Arg3556His		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.R3556H	ENST00000371117.3	37	c.10667	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	7.100	0.573918	0.13623	.	.	ENSG00000170927	ENST00000371117	D	0.86164	-2.08	5.93	-2.16	0.07080	.	0.902932	0.09578	N	0.783258	T	0.47673	0.1458	N	0.04508	-0.205	0.24072	N	0.99597	B	0.10296	0.003	B	0.04013	0.001	T	0.41179	-0.9523	10	0.29301	T	0.29	.	6.2911	0.21061	0.1989:0.4084:0.0:0.3927	.	3556	P08F94	PKHD1_HUMAN	H	3556	ENSP00000360158:R3556H	ENSP00000360158:R3556H	R	-	2	0	PKHD1	51632216	0.000000	0.05858	0.019000	0.16419	0.941000	0.58515	-0.696000	0.05104	-0.331000	0.08501	0.655000	0.94253	CGC	PKHD1	-	NULL	ENSG00000170927		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	164	0.00	0	C	NM_138694		51524257	51524257	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	156	16.13	30	SNP	0.001	T
PRKG2	5593	genome.wustl.edu	37	4	82056310	82056310	+	Splice_Site	SNP	A	A	G			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr4:82056310A>G	ENST00000395578.1	-	14	1891	c.1775T>C	c.(1774-1776)tTg>tCg	p.L592S	PRKG2_ENST00000418486.2_Splice_Site_p.L563S|PRKG2_ENST00000264399.1_Splice_Site_p.L592S|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Splice_Site_p.L172S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	592	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTGTCTTACCAATTTAAGGTA	0.358																																						dbGAP											0													120.0	120.0	120.0					4																	82056310		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1776+1T>C	4.37:g.82056310A>G			B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.L592S	ENST00000395578.1	37	c.1775	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950876	0.73787	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.996;0.997	T	0.76274	-0.3019	10	0.87932	D	0	-15.5075	15.7554	0.78018	1.0:0.0:0.0:0.0	.	563;592	E7EPE6;Q13237	.;KGP2_HUMAN	S	592;592;563;172	ENSP00000378945:L592S;ENSP00000264399:L592S;ENSP00000389038:L563S;ENSP00000439967:L172S	ENSP00000264399:L592S	L	-	2	0	PRKG2	82275334	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	9.273000	0.95719	2.197000	0.70478	0.528000	0.53228	TTG	PRKG2	-	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,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000138669		0.358	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	185	0.54	1	A	NM_006259	Missense_Mutation	82056310	82056310	-1	no_errors	ENST00000264399	ensembl	human	known	69_37n	missense	177	21.33	48	SNP	1.000	G
PTPN13	5783	genome.wustl.edu	37	4	87607896	87607897	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr4:87607896_87607897insG	ENST00000411767.2	+	4	391_392	c.328_329insG	c.(328-330)tggfs	p.W110fs	PTPN13_ENST00000436978.1_Frame_Shift_Ins_p.W110fs|PTPN13_ENST00000316707.6_Frame_Shift_Ins_p.W110fs|PTPN13_ENST00000427191.2_Frame_Shift_Ins_p.W110fs|PTPN13_ENST00000502971.1_Frame_Shift_Ins_p.W110fs|PTPN13_ENST00000511467.1_Frame_Shift_Ins_p.W110fs			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	110	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GACACTGTATTGGGGGGCTGAT	0.292																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.334dupG	4.37:g.87607902_87607902dupG	ENSP00000407249:p.Trp110fs		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Frame_Shift_Ins	INS	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A112fs	ENST00000411767.2	37	c.328_329	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PAZ,smart_KIND	ENSG00000163629		0.292	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	21	0.00	0	-			87607896	87607897	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	1.000:1.000	G
SIN3B	23309	genome.wustl.edu	37	19	16976371	16976372	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr19:16976371_16976372insTT	ENST00000248054.5	+	11	1555_1556	c.1534_1535insTT	c.(1534-1536)attfs	p.I512fs	SIN3B_ENST00000595541.1_Frame_Shift_Ins_p.I102fs|SIN3B_ENST00000379803.1_Frame_Shift_Ins_p.I544fs					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCGCCGTGCCATTTATCGCATC	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1535_1536dupTT	19.37:g.16976372_16976373dupTT	ENSP00000248054:p.Ile512fs			Frame_Shift_Ins	INS	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.Y545fs	ENST00000248054.5	37	c.1630_1631		19																																																																																			SIN3B	-	NULL	ENSG00000127511		0.604	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	24	0.00	0	-	NM_015260		16976371	16976372	+1	no_errors	ENST00000379803	ensembl	human	known	69_37n	frame_shift_ins	11	31.25	5	INS	0.991:1.000	TT
SIPA1L3	23094	genome.wustl.edu	37	19	38631959	38631959	+	Silent	SNP	A	A	G	rs573298532		TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr19:38631959A>G	ENST00000222345.6	+	11	3788	c.3279A>G	c.(3277-3279)ctA>ctG	p.L1093L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1093					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATAACTCTCTACCAGCCTCCA	0.672																																						dbGAP											0													54.0	58.0	57.0					19																	38631959		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3279A>G	19.37:g.38631959A>G			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L1093	ENST00000222345.6	37	c.3279	CCDS33007.1	19																																																																																			SIPA1L3	-	NULL	ENSG00000105738		0.672	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	107	0.00	0	A	XM_032278		38631959	38631959	+1	no_errors	ENST00000222345	ensembl	human	known	69_37n	silent	65	17.86	15	SNP	0.037	G
PTPRH	5794	genome.wustl.edu	37	19	55693164	55693164	+	Silent	SNP	G	G	A			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr19:55693164G>A	ENST00000376350.3	-	20	3328	c.3306C>T	c.(3304-3306)taC>taT	p.Y1102Y	SYT5_ENST00000354308.3_5'Flank|SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000537500.1_5'Flank|PTPRH_ENST00000263434.5_Silent_p.Y924Y	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1102					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCACGTTCTCGTAGATGAGGT	0.592																																						dbGAP											0													138.0	129.0	132.0					19																	55693164		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3306C>T	19.37:g.55693164G>A			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Y1102	ENST00000376350.3	37	c.3306	CCDS33110.1	19																																																																																			PTPRH	-	NULL	ENSG00000080031		0.592	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	110	0.00	0	G			55693164	55693164	-1	no_errors	ENST00000376350	ensembl	human	known	69_37n	silent	42	19.23	10	SNP	0.433	A
STRC	161497	genome.wustl.edu	37	15	43893206	43893206	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr15:43893206T>C	ENST00000450892.2	-	25	4785	c.4708A>G	c.(4708-4710)Att>Gtt	p.I1570V	STRC_ENST00000541030.1_Missense_Mutation_p.I797V|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1570					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GAGACCACAATGCGGAGCTGG	0.532																																						dbGAP											0													12.0	16.0	15.0					15																	43893206		1832	3876	5708	-	-	-	SO:0001583	missense	0			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4708A>G	15.37:g.43893206T>C	ENSP00000401513:p.Ile1570Val			Missense_Mutation	SNP	NULL	p.I1570V	ENST00000450892.2	37	c.4708	CCDS10098.1	15	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.790708	0.00623	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.76060	-0.99;-0.99	4.37	0.117	0.14652	.	0.952864	0.08660	N	0.912629	T	0.51873	0.1700	N	0.12182	0.205	0.09310	N	1	B;B	0.17268	0.021;0.0	B;B	0.14023	0.01;0.0	T	0.32587	-0.9901	10	0.20519	T	0.43	-0.0092	6.204	0.20591	0.0:0.4792:0.0:0.5208	.	797;1570	F5GXA4;Q7RTU9	.;STRC_HUMAN	V	1570;1570;797	ENSP00000401513:I1570V;ENSP00000440413:I797V	ENSP00000299992:I1570V	I	-	1	0	STRC	41680498	0.001000	0.12720	0.110000	0.21437	0.591000	0.36615	0.731000	0.26058	0.175000	0.19841	-0.762000	0.03455	ATT	STRC	-	NULL	ENSG00000242866		0.532	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	HGNC	protein_coding	OTTHUMT00000133140.1	123	0.00	0	T	NM_153700		43893206	43893206	-1	no_errors	ENST00000450892	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	0.047	C
TNFAIP3	7128	genome.wustl.edu	37	6	138200082	138200082	+	Silent	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr6:138200082C>T	ENST00000237289.4	+	7	1566	c.1500C>T	c.(1498-1500)aaC>aaT	p.N500N		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	500	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GTTGCCACAACGCCCGGCAAC	0.567			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	dbGAP		Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											46.0	49.0	48.0					6																	138200082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1500C>T	6.37:g.138200082C>T			B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.N500	ENST00000237289.4	37	c.1500	CCDS5187.1	6																																																																																			TNFAIP3	-	pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20	ENSG00000118503		0.567	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	54	0.00	0	C			138200082	138200082	+1	no_errors	ENST00000237289	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	0.044	T
UBR4	23352	genome.wustl.edu	37	1	19504222	19504222	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr1:19504222C>T	ENST00000375254.3	-	19	2397	c.2370G>A	c.(2368-2370)atG>atA	p.M790I	UBR4_ENST00000375226.2_Missense_Mutation_p.M790I|UBR4_ENST00000375267.2_Missense_Mutation_p.M790I|UBR4_ENST00000375217.2_Missense_Mutation_p.M790I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	790					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATTCTGCTTCATTGTAGACA	0.438																																						dbGAP											0													54.0	55.0	55.0					1																	19504222		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2370G>A	1.37:g.19504222C>T	ENSP00000364403:p.Met790Ile		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.M790I	ENST00000375254.3	37	c.2370	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687152	0.68157	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.72	5.72	0.89469	.	0.060876	0.64402	D	0.000001	T	0.53270	0.1786	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43988	-0.9357	10	0.42905	T	0.14	.	19.4596	0.94912	0.0:1.0:0.0:0.0	.	790	Q5T4S7	UBR4_HUMAN	I	790;790;790;790;6	ENSP00000364403:M790I;ENSP00000364416:M790I;ENSP00000364365:M790I;ENSP00000364374:M790I	ENSP00000364365:M790I	M	-	3	0	UBR4	19376809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.459000	0.60102	2.708000	0.92522	0.650000	0.86243	ATG	UBR4	-	NULL	ENSG00000127481		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	221	0.00	0	C	NM_020765		19504222	19504222	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	149	13.37	23	SNP	1.000	T
VPS13C	54832	genome.wustl.edu	37	15	62161736	62161736	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr15:62161736C>T	ENST00000261517.5	-	80	10784	c.10711G>A	c.(10711-10713)Gta>Ata	p.V3571I	VPS13C_ENST00000395896.4_Missense_Mutation_p.V3571I|VPS13C_ENST00000395898.3_Missense_Mutation_p.V3528I|VPS13C_ENST00000249837.3_Missense_Mutation_p.V3528I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCCATATCTACGATTCCACCA	0.438																																						dbGAP											0													143.0	131.0	135.0					15																	62161736		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10711G>A	15.37:g.62161736C>T	ENSP00000261517:p.Val3571Ile			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.V3571I	ENST00000261517.5	37	c.10711	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	6.019	0.371936	0.11409	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.41758	0.99;0.99;1.18	5.83	2.36	0.29203	Autophagy-related, C-terminal (1);	0.196824	0.44902	N	0.000413	T	0.13884	0.0336	N	0.03000	-0.44	0.47123	D	0.999322	B;B;B;B	0.15141	0.005;0.006;0.005;0.012	B;B;B;B	0.16289	0.007;0.013;0.009;0.015	T	0.23084	-1.0198	10	0.02654	T	1	.	6.7422	0.23443	0.0:0.4552:0.0:0.5448	.	3528;3571;3528;3571	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	3528;3571;3571;3571	ENSP00000249837:V3528I;ENSP00000261517:V3571I;ENSP00000379233:V3571I	ENSP00000249837:V3528I	V	-	1	0	VPS13C	59949028	0.997000	0.39634	0.997000	0.53966	0.991000	0.79684	0.452000	0.21795	0.496000	0.27904	-0.238000	0.12139	GTA	VPS13C	-	pfam_Autophagy-rel_C	ENSG00000129003		0.438	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	184	0.00	0	C	NM_017684		62161736	62161736	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	225	19.35	54	SNP	0.996	T
ZBTB22	9278	genome.wustl.edu	37	6	33284663	33284663	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr6:33284663delC	ENST00000431845.2	-	2	182	c.31delG	c.(31-33)gcafs	p.A12fs	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.A12fs|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGAAGTGCTGCCCCACTGGGA	0.652																																						dbGAP											0													20.0	23.0	22.0					6																	33284663		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.31delG	6.37:g.33284663delC	ENSP00000407545:p.Ala12fs		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A11fs	ENST00000431845.2	37	c.31	CCDS4775.1	6																																																																																			ZBTB22	-	NULL	ENSG00000236104		0.652	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	25	0.00	0	C			33284663	33284663	-1	no_errors	ENST00000418724	ensembl	human	known	69_37n	frame_shift_del	11	33.33	6	DEL	1.000	-
ZNF559	84527	genome.wustl.edu	37	19	9453596	9453596	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr19:9453596A>C	ENST00000393883.2	+	6	2117	c.1469A>C	c.(1468-1470)gAa>gCa	p.E490A	ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.E554A|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.E410A|ZNF559_ENST00000603380.1_Missense_Mutation_p.E490A|ZNF177_ENST00000541595.2_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CACACTGGTGAACGGCCCTTT	0.433																																						dbGAP											0													90.0	81.0	84.0					19																	9453596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1469A>C	19.37:g.9453596A>C	ENSP00000377461:p.Glu490Ala		K7EMG6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E490A	ENST00000393883.2	37	c.1469	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237953	0.58886	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.27557	1.66;1.66	2.22	-0.00857	0.14005	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47266	0.1436	M	0.76002	2.32	0.09310	N	1	P;D;P	0.76494	0.813;0.999;0.898	B;D;P	0.77557	0.392;0.99;0.546	T	0.31052	-0.9957	9	0.87932	D	0	.	3.0547	0.06180	0.6515:0.0:0.1369:0.2116	.	490;490;410	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	A	490;410;490	ENSP00000442832:E410A;ENSP00000377461:E490A	ENSP00000325393:E490A	E	+	2	0	ZNF559	9314596	0.987000	0.35691	0.000000	0.03702	0.578000	0.36192	2.945000	0.49043	-0.084000	0.12595	0.260000	0.18958	GAA	ZNF559	-	pfscan_Znf_C2H2	ENSG00000188321		0.433	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	168	0.00	0	A	NM_032497		9453596	9453596	+1	no_errors	ENST00000393883	ensembl	human	known	69_37n	missense	150	27.54	57	SNP	0.006	C
ZNF592	9640	genome.wustl.edu	37	15	85345429	85345429	+	Silent	SNP	G	G	A	rs546308037		TCGA-A2-A0EU-01A-22W-A071-09	TCGA-A2-A0EU-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	de30da8f-903f-428e-a63d-59625fc858a9	1583a7c5-c835-44fa-918a-1448abf6533d	g.chr15:85345429G>A	ENST00000560079.2	+	11	3897	c.3609G>A	c.(3607-3609)gaG>gaA	p.E1203E	ZNF592_ENST00000299927.3_Silent_p.E1203E	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1203					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCCAGAGGAGGGCTCCGGGG	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18513	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													15.0	19.0	18.0					15																	85345429		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3609G>A	15.37:g.85345429G>A			Q2M1T2|Q504Y9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1203	ENST00000560079.2	37	c.3609	CCDS32317.1	15																																																																																			ZNF592	-	NULL	ENSG00000166716		0.617	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	37	0.00	0	G	NM_014630		85345429	85345429	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	silent	16	36.00	9	SNP	0.253	A
